Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32454659_32454662delinsTACC | CA2422811181 | DMD | n.3810_3810+3delinsGGTA c.3603_3603+3delinsGGTA c.3591_3591+3delinsGGTA c.94-89463_94-89460delinsGGTA (n.94-89463_94-89460delinsGGTA) c.94-89952_94-89949delinsGGTA (n.94-89952_94-89949delinsGGTA) n.336-237599_336-237596delinsGGTA c.3579_3579+3delinsGGTA c.3234_3234+3delinsGGTA c.3474_3474+3delinsGGTA | |
X | g.32454660_32454661del | CA1132139952 | DMD | n.3810+1_3810+2del c.3603+1_3603+2del (n.3603+1_3603+2del) c.3591+1_3591+2del (n.3591+1_3591+2del) c.94-89462_94-89461del (n.94-89462_94-89461del) c.94-89951_94-89950del (n.94-89951_94-89950del) n.336-237598_336-237597del c.3579+1_3579+2del (n.3579+1_3579+2del) c.3234+1_3234+2del (n.3234+1_3234+2del) c.3474+1_3474+2del (n.3474+1_3474+2del) | gnomAD v3 gnomAD v4 |
X | g.32454660_32454662del | CA641364240 | DMD | n.3810_3810+2del c.3603_3603+2del c.3591_3591+2del c.94-89463_94-89461del (n.94-89463_94-89461del) c.94-89952_94-89950del (n.94-89952_94-89950del) n.336-237599_336-237597del c.3579_3579+2del c.3234_3234+2del c.3474_3474+2del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454661C>A | CA412662828 | DMD | n.3810+1G>T c.3603+1G>T (n.3603+1G>T) c.3591+1G>T (n.3591+1G>T) c.94-89462G>T (n.94-89462G>T) c.94-89951G>T (n.94-89951G>T) n.336-237598G>T c.3579+1G>T (n.3579+1G>T) c.3234+1G>T (n.3234+1G>T) c.3474+1G>T (n.3474+1G>T) | ClinVar dbSNP gnomAD v4 |
X | g.32454661C= | CA2422811183 | DMD | n.3810+1G= c.3603+1G= (n.3603+1G=) c.3591+1G= (n.3591+1G=) c.94-89462G= (n.94-89462G=) c.94-89951G= (n.94-89951G=) n.336-237598G= c.3579+1G= (n.3579+1G=) c.3234+1G= (n.3234+1G=) c.3474+1G= (n.3474+1G=) | |
X | g.32454661C>G | CA412662829 | DMD | n.3810+1G>C c.3603+1G>C (n.3603+1G>C) c.3591+1G>C (n.3591+1G>C) c.94-89462G>C (n.94-89462G>C) c.94-89951G>C (n.94-89951G>C) n.336-237598G>C c.3579+1G>C (n.3579+1G>C) c.3234+1G>C (n.3234+1G>C) c.3474+1G>C (n.3474+1G>C) | |
X | g.32454661C>T | CA412662830 | DMD | n.3810+1G>A c.3603+1G>A (n.3603+1G>A) c.3591+1G>A (n.3591+1G>A) c.94-89462G>A (n.94-89462G>A) c.94-89951G>A (n.94-89951G>A) n.336-237598G>A c.3579+1G>A (n.3579+1G>A) c.3234+1G>A (n.3234+1G>A) c.3474+1G>A (n.3474+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454661_32454662del | CA2693396075 | DMD | n.3810_3810+1del c.3603_3603+1del c.3591_3591+1del c.94-89463_94-89462del (n.94-89463_94-89462del) c.94-89952_94-89951del (n.94-89952_94-89951del) n.336-237599_336-237598del c.3579_3579+1del c.3234_3234+1del c.3474_3474+1del | gnomAD v4 |
X | g.32454661_32454662insTTT | CA1132139958 | DMD | n.3810_3810+1insAAA c.3603_3603+1insAAA (n.3603_3603+1insAAA) c.3591_3591+1insAAA (n.3591_3591+1insAAA) c.94-89463_94-89462insAAA (n.94-89463_94-89462insAAA) c.94-89952_94-89951insAAA (n.94-89952_94-89951insAAA) n.336-237599_336-237598insAAA c.3579_3579+1insAAA (n.3579_3579+1insAAA) c.3234_3234+1insAAA (n.3234_3234+1insAAA) c.3474_3474+1insAAA (n.3474_3474+1insAAA) | gnomAD v3 gnomAD v4 |
X | g.32454662C>A | CA412662831 | DMD | n.3810G>T c.3603G>T (p.Lys1201Asn) c.3591G>T (p.Lys1197Asn) c.94-89463G>T (n.94-89463G>T) c.94-89952G>T (n.94-89952G>T) n.336-237599G>T c.3579G>T (p.Lys1193Asn) c.3234G>T (p.Lys1078Asn) c.3474G>T (p.Lys1158Asn) | ClinVar dbSNP gnomAD v4 |
X | g.32454662C= | CA2422811184 | DMD | n.3810G= c.3603G= (p.Lys1201=) c.3591G= (p.Lys1197=) c.94-89463G= (n.94-89463G=) c.94-89952G= (n.94-89952G=) n.336-237599G= c.3579G= (p.Lys1193=) c.3234G= (p.Lys1078=) c.3474G= (p.Lys1158=) | |
X | g.32454662C>G | CA412662832 | DMD | n.3810G>C c.3603G>C (p.Lys1201Asn) c.3591G>C (p.Lys1197Asn) c.94-89463G>C (n.94-89463G>C) c.94-89952G>C (n.94-89952G>C) n.336-237599G>C c.3579G>C (p.Lys1193Asn) c.3234G>C (p.Lys1078Asn) c.3474G>C (p.Lys1158Asn) | |
X | g.32454662C>T | CA515715221 | DMD | n.3810G>A c.3603G>A (p.Lys1201=) c.3591G>A (p.Lys1197=) c.94-89463G>A (n.94-89463G>A) c.94-89952G>A (n.94-89952G>A) n.336-237599G>A c.3579G>A (p.Lys1193=) c.3234G>A (p.Lys1078=) c.3474G>A (p.Lys1158=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454663T>A | CA412662833 | DMD | n.3809A>T c.3602A>T (p.Lys1201Met) c.3590A>T (p.Lys1197Met) c.94-89464A>T (n.94-89464A>T) c.94-89953A>T (n.94-89953A>T) n.336-237600A>T c.3578A>T (p.Lys1193Met) c.3233A>T (p.Lys1078Met) c.3473A>T (p.Lys1158Met) | gnomAD v4 |
X | g.32454663T>C | CA412662834 | DMD | n.3809A>G c.3602A>G (p.Lys1201Arg) c.3590A>G (p.Lys1197Arg) c.94-89464A>G (n.94-89464A>G) c.94-89953A>G (n.94-89953A>G) n.336-237600A>G c.3578A>G (p.Lys1193Arg) c.3233A>G (p.Lys1078Arg) c.3473A>G (p.Lys1158Arg) | gnomAD v4 |
X | g.32454663T>G | CA412662835 | DMD | n.3809A>C c.3602A>C (p.Lys1201Thr) c.3590A>C (p.Lys1197Thr) c.94-89464A>C (n.94-89464A>C) c.94-89953A>C (n.94-89953A>C) n.336-237600A>C c.3578A>C (p.Lys1193Thr) c.3233A>C (p.Lys1078Thr) c.3473A>C (p.Lys1158Thr) | gnomAD v4 |
X | g.32454664_32454665insTTTT | CA641364241 | DMD | n.3809_3810insAAAA c.3602_3603insAAAA (p.Arg1202LysfsTer4) c.3590_3591insAAAA (p.Arg1198LysfsTer4) c.94-89464_94-89463insAAAA (n.94-89464_94-89463insAAAA) c.94-89953_94-89952insAAAA (n.94-89953_94-89952insAAAA) n.336-237600_336-237599insAAAA c.3578_3579insAAAA (p.Arg1194LysfsTer4) c.3233_3234insAAAA (p.Arg1079LysfsTer4) c.3473_3474insAAAA (p.Arg1159LysfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454664del | CA2517840573 | DMD | n.3809del c.3602del (p.Lys1201ArgfsTer14) c.3590del (p.Lys1197ArgfsTer14) c.94-89464del (n.94-89464del) c.94-89953del (n.94-89953del) n.336-237600del c.3578del (p.Lys1193ArgfsTer14) c.3233del (p.Lys1078ArgfsTer14) c.3473del (p.Lys1158ArgfsTer14) | |
X | g.32454664T>A | CA412662836 | DMD | n.3808A>T c.3601A>T (p.Lys1201Ter) c.3589A>T (p.Lys1197Ter) c.94-89465A>T (n.94-89465A>T) c.94-89954A>T (n.94-89954A>T) n.336-237601A>T c.3577A>T (p.Lys1193Ter) c.3232A>T (p.Lys1078Ter) c.3472A>T (p.Lys1158Ter) | gnomAD v4 |
X | g.32454664T>C | CA412662838 | DMD | n.3808A>G c.3601A>G (p.Lys1201Glu) c.3589A>G (p.Lys1197Glu) c.94-89465A>G (n.94-89465A>G) c.94-89954A>G (n.94-89954A>G) n.336-237601A>G c.3577A>G (p.Lys1193Glu) c.3232A>G (p.Lys1078Glu) c.3472A>G (p.Lys1158Glu) | gnomAD v4 |
X | g.32454664T>G | CA412662839 | DMD | n.3808A>C c.3601A>C (p.Lys1201Gln) c.3589A>C (p.Lys1197Gln) c.94-89465A>C (n.94-89465A>C) c.94-89954A>C (n.94-89954A>C) n.336-237601A>C c.3577A>C (p.Lys1193Gln) c.3232A>C (p.Lys1078Gln) c.3472A>C (p.Lys1158Gln) | dbSNP gnomAD v3 gnomAD v4 |
X | g.32454664T= | CA2422811185 | DMD | n.3808A= c.3601A= (p.Lys1201=) c.3589A= (p.Lys1197=) c.94-89465A= (n.94-89465A=) c.94-89954A= (n.94-89954A=) n.336-237601A= c.3577A= (p.Lys1193=) c.3232A= (p.Lys1078=) c.3472A= (p.Lys1158=) | |
X | g.32454666_32454670del | CA2697552971 | DMD | n.3804_3808del c.3597_3601del (p.Met1200GlufsTer3) c.3585_3589del (p.Met1196GlufsTer3) c.94-89469_94-89465del (n.94-89469_94-89465del) c.94-89958_94-89954del (n.94-89958_94-89954del) n.336-237605_336-237601del c.3573_3577del (p.Met1192GlufsTer3) c.3228_3232del (p.Met1077GlufsTer3) c.3468_3472del (p.Met1157GlufsTer3) | ClinVar |
X | g.32454665C>A | CA412662841 | DMD | n.3807G>T c.3600G>T (p.Met1200Ile) c.3588G>T (p.Met1196Ile) c.94-89466G>T (n.94-89466G>T) c.94-89955G>T (n.94-89955G>T) n.336-237602G>T c.3576G>T (p.Met1192Ile) c.3231G>T (p.Met1077Ile) c.3471G>T (p.Met1157Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.32454665C= | CA2422811186 | DMD | n.3807G= c.3600G= (p.Met1200=) c.3588G= (p.Met1196=) c.94-89466G= (n.94-89466G=) c.94-89955G= (n.94-89955G=) n.336-237602G= c.3576G= (p.Met1192=) c.3231G= (p.Met1077=) c.3471G= (p.Met1157=) | |
X | g.32454665C>G | CA412662842 | DMD | n.3807G>C c.3600G>C (p.Met1200Ile) c.3588G>C (p.Met1196Ile) c.94-89466G>C (n.94-89466G>C) c.94-89955G>C (n.94-89955G>C) n.336-237602G>C c.3576G>C (p.Met1192Ile) c.3231G>C (p.Met1077Ile) c.3471G>C (p.Met1157Ile) | |
X | g.32454665C>T | CA412662840 | DMD | n.3807G>A c.3600G>A (p.Met1200Ile) c.3588G>A (p.Met1196Ile) c.94-89466G>A (n.94-89466G>A) c.94-89955G>A (n.94-89955G>A) n.336-237602G>A c.3576G>A (p.Met1192Ile) c.3231G>A (p.Met1077Ile) c.3471G>A (p.Met1157Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32454665_32454666del | CA1132139960 | DMD | n.3806_3807del c.3599_3600del (p.Met1200LysfsTer4) c.3587_3588del (p.Met1196LysfsTer4) c.94-89467_94-89466del (n.94-89467_94-89466del) c.94-89956_94-89955del (n.94-89956_94-89955del) n.336-237603_336-237602del c.3575_3576del (p.Met1192LysfsTer4) c.3230_3231del (p.Met1077LysfsTer4) c.3470_3471del (p.Met1157LysfsTer4) | gnomAD v3 gnomAD v4 |
X | g.32454665_32454666insTTTT | CA1132139962 | DMD | n.3806_3807insAAAA c.3599_3600insAAAA (p.Met1200IlefsTer6) c.3587_3588insAAAA (p.Met1196IlefsTer6) c.94-89467_94-89466insAAAA (n.94-89467_94-89466insAAAA) c.94-89956_94-89955insAAAA (n.94-89956_94-89955insAAAA) n.336-237603_336-237602insAAAA c.3575_3576insAAAA (p.Met1192IlefsTer6) c.3230_3231insAAAA (p.Met1077IlefsTer6) c.3470_3471insAAAA (p.Met1157IlefsTer6) | gnomAD v3 gnomAD v4 |
X | g.32454666A>C | CA412662843 | DMD | n.3806T>G c.3599T>G (p.Met1200Arg) c.3587T>G (p.Met1196Arg) c.94-89467T>G (n.94-89467T>G) c.94-89956T>G (n.94-89956T>G) n.336-237603T>G c.3575T>G (p.Met1192Arg) c.3230T>G (p.Met1077Arg) c.3470T>G (p.Met1157Arg) | gnomAD v3 gnomAD v4 |
X | g.32454666A>G | CA412662844 | DMD | n.3806T>C c.3599T>C (p.Met1200Thr) c.3587T>C (p.Met1196Thr) c.94-89467T>C (n.94-89467T>C) c.94-89956T>C (n.94-89956T>C) n.336-237603T>C c.3575T>C (p.Met1192Thr) c.3230T>C (p.Met1077Thr) c.3470T>C (p.Met1157Thr) | gnomAD v4 |
X | g.32454666A>T | CA412662845 | DMD | n.3806T>A c.3599T>A (p.Met1200Lys) c.3587T>A (p.Met1196Lys) c.94-89467T>A (n.94-89467T>A) c.94-89956T>A (n.94-89956T>A) n.336-237603T>A c.3575T>A (p.Met1192Lys) c.3230T>A (p.Met1077Lys) c.3470T>A (p.Met1157Lys) | gnomAD v3 gnomAD v4 |
X | g.32454667T>A | CA412662846 | DMD | n.3805A>T c.3598A>T (p.Met1200Leu) c.3586A>T (p.Met1196Leu) c.94-89468A>T (n.94-89468A>T) c.94-89957A>T (n.94-89957A>T) n.336-237604A>T c.3574A>T (p.Met1192Leu) c.3229A>T (p.Met1077Leu) c.3469A>T (p.Met1157Leu) | gnomAD v4 |
X | g.32454667T>C | CA412662847 | DMD | n.3805A>G c.3598A>G (p.Met1200Val) c.3586A>G (p.Met1196Val) c.94-89468A>G (n.94-89468A>G) c.94-89957A>G (n.94-89957A>G) n.336-237604A>G c.3574A>G (p.Met1192Val) c.3229A>G (p.Met1077Val) c.3469A>G (p.Met1157Val) | gnomAD v4 |
X | g.32454667T>G | CA412662848 | DMD | n.3805A>C c.3598A>C (p.Met1200Leu) c.3586A>C (p.Met1196Leu) c.94-89468A>C (n.94-89468A>C) c.94-89957A>C (n.94-89957A>C) n.336-237604A>C c.3574A>C (p.Met1192Leu) c.3229A>C (p.Met1077Leu) c.3469A>C (p.Met1157Leu) | |
X | g.32454667_32454668insTTTTTT | CA1132139965 | DMD | n.3805_3806insAAAAAA c.3598_3599insAAAAAA (p.Glu1199_Met1200insLysLys) c.3586_3587insAAAAAA (p.Glu1195_Met1196insLysLys) c.94-89468_94-89467insAAAAAA (n.94-89468_94-89467insAAAAAA) c.94-89957_94-89956insAAAAAA (n.94-89957_94-89956insAAAAAA) n.336-237604_336-237603insAAAAAA c.3574_3575insAAAAAA (p.Glu1191_Met1192insLysLys) c.3229_3230insAAAAAA (p.Glu1076_Met1077insLysLys) c.3469_3470insAAAAAA (p.Glu1156_Met1157insLysLys) | gnomAD v3 gnomAD v4 |
X | g.32454668C>A | CA412662849 | DMD | n.3804G>T c.3597G>T (p.Glu1199Asp) c.3585G>T (p.Glu1195Asp) c.94-89469G>T (n.94-89469G>T) c.94-89958G>T (n.94-89958G>T) n.336-237605G>T c.3573G>T (p.Glu1191Asp) c.3228G>T (p.Glu1076Asp) c.3468G>T (p.Glu1156Asp) | gnomAD v4 |
X | g.32454668C>G | CA412662850 | DMD | n.3804G>C c.3597G>C (p.Glu1199Asp) c.3585G>C (p.Glu1195Asp) c.94-89469G>C (n.94-89469G>C) c.94-89958G>C (n.94-89958G>C) n.336-237605G>C c.3573G>C (p.Glu1191Asp) c.3228G>C (p.Glu1076Asp) c.3468G>C (p.Glu1156Asp) | |
X | g.32454668C>T | CA515715227 | DMD | n.3804G>A c.3597G>A (p.Glu1199=) c.3585G>A (p.Glu1195=) c.94-89469G>A (n.94-89469G>A) c.94-89958G>A (n.94-89958G>A) n.336-237605G>A c.3573G>A (p.Glu1191=) c.3228G>A (p.Glu1076=) c.3468G>A (p.Glu1156=) | gnomAD v3 gnomAD v4 |
X | g.32454669T>A | CA412662851 | DMD | n.3803A>T c.3596A>T (p.Glu1199Val) c.3584A>T (p.Glu1195Val) c.94-89470A>T (n.94-89470A>T) c.94-89959A>T (n.94-89959A>T) n.336-237606A>T c.3572A>T (p.Glu1191Val) c.3227A>T (p.Glu1076Val) c.3467A>T (p.Glu1156Val) | gnomAD v4 |
X | g.32454669T>C | CA412662852 | DMD | n.3803A>G c.3596A>G (p.Glu1199Gly) c.3584A>G (p.Glu1195Gly) c.94-89470A>G (n.94-89470A>G) c.94-89959A>G (n.94-89959A>G) n.336-237606A>G c.3572A>G (p.Glu1191Gly) c.3227A>G (p.Glu1076Gly) c.3467A>G (p.Glu1156Gly) | gnomAD v4 |
X | g.32454669T>G | CA412662853 | DMD | n.3803A>C c.3596A>C (p.Glu1199Ala) c.3584A>C (p.Glu1195Ala) c.94-89470A>C (n.94-89470A>C) c.94-89959A>C (n.94-89959A>C) n.336-237606A>C c.3572A>C (p.Glu1191Ala) c.3227A>C (p.Glu1076Ala) c.3467A>C (p.Glu1156Ala) | |
X | g.32454670C>A | CA412662854 | DMD | n.3802G>T c.3595G>T (p.Glu1199Ter) c.3583G>T (p.Glu1195Ter) c.94-89471G>T (n.94-89471G>T) c.94-89960G>T (n.94-89960G>T) n.336-237607G>T c.3571G>T (p.Glu1191Ter) c.3226G>T (p.Glu1076Ter) c.3466G>T (p.Glu1156Ter) | gnomAD v4 |
X | g.32454670C>G | CA412662855 | DMD | n.3802G>C c.3595G>C (p.Glu1199Gln) c.3583G>C (p.Glu1195Gln) c.94-89471G>C (n.94-89471G>C) c.94-89960G>C (n.94-89960G>C) n.336-237607G>C c.3571G>C (p.Glu1191Gln) c.3226G>C (p.Glu1076Gln) c.3466G>C (p.Glu1156Gln) | gnomAD v4 |
X | g.32454670C>T | CA412662856 | DMD | n.3802G>A c.3595G>A (p.Glu1199Lys) c.3583G>A (p.Glu1195Lys) c.94-89471G>A (n.94-89471G>A) c.94-89960G>A (n.94-89960G>A) n.336-237607G>A c.3571G>A (p.Glu1191Lys) c.3226G>A (p.Glu1076Lys) c.3466G>A (p.Glu1156Lys) | gnomAD v3 gnomAD v4 |
X | g.32454671T>A | CA412662857 | DMD | n.3801A>T c.3594A>T (p.Glu1198Asp) c.3582A>T (p.Glu1194Asp) c.94-89472A>T (n.94-89472A>T) c.94-89961A>T (n.94-89961A>T) n.336-237608A>T c.3570A>T (p.Glu1190Asp) c.3225A>T (p.Glu1075Asp) c.3465A>T (p.Glu1155Asp) | |
X | g.32454671T>C | CA515715229 | DMD | n.3801A>G c.3594A>G (p.Glu1198=) c.3582A>G (p.Glu1194=) c.94-89472A>G (n.94-89472A>G) c.94-89961A>G (n.94-89961A>G) n.336-237608A>G c.3570A>G (p.Glu1190=) c.3225A>G (p.Glu1075=) c.3465A>G (p.Glu1155=) | gnomAD v4 |
X | g.32454671T>G | CA412662858 | DMD | n.3801A>C c.3594A>C (p.Glu1198Asp) c.3582A>C (p.Glu1194Asp) c.94-89472A>C (n.94-89472A>C) c.94-89961A>C (n.94-89961A>C) n.336-237608A>C c.3570A>C (p.Glu1190Asp) c.3225A>C (p.Glu1075Asp) c.3465A>C (p.Glu1155Asp) | |
X | g.32454672del | CA2579579881 | DMD | n.3801del c.3594del (p.Glu1199ArgfsTer2) c.3582del (p.Glu1195ArgfsTer2) c.94-89472del (n.94-89472del) c.94-89961del (n.94-89961del) n.336-237608del c.3570del (p.Glu1191ArgfsTer2) c.3225del (p.Glu1076ArgfsTer2) c.3465del (p.Glu1156ArgfsTer2) | |
X | g.32454672T>A | CA412662859 | DMD | n.3800A>T c.3593A>T (p.Glu1198Val) c.3581A>T (p.Glu1194Val) c.94-89473A>T (n.94-89473A>T) c.94-89962A>T (n.94-89962A>T) n.336-237609A>T c.3569A>T (p.Glu1190Val) c.3224A>T (p.Glu1075Val) c.3464A>T (p.Glu1155Val) | |
X | g.32454672T>C | CA412662860 | DMD | n.3800A>G c.3593A>G (p.Glu1198Gly) c.3581A>G (p.Glu1194Gly) c.94-89473A>G (n.94-89473A>G) c.94-89962A>G (n.94-89962A>G) n.336-237609A>G c.3569A>G (p.Glu1190Gly) c.3224A>G (p.Glu1075Gly) c.3464A>G (p.Glu1155Gly) | |
X | g.32454672T>G | CA412662861 | DMD | n.3800A>C c.3593A>C (p.Glu1198Ala) c.3581A>C (p.Glu1194Ala) c.94-89473A>C (n.94-89473A>C) c.94-89962A>C (n.94-89962A>C) n.336-237609A>C c.3569A>C (p.Glu1190Ala) c.3224A>C (p.Glu1075Ala) c.3464A>C (p.Glu1155Ala) | |
X | g.32454673C>A | CA412662862 | DMD | n.3799G>T c.3592G>T (p.Glu1198Ter) c.3580G>T (p.Glu1194Ter) c.94-89474G>T (n.94-89474G>T) c.94-89963G>T (n.94-89963G>T) n.336-237610G>T c.3568G>T (p.Glu1190Ter) c.3223G>T (p.Glu1075Ter) c.3463G>T (p.Glu1155Ter) | dbSNP gnomAD v4 |
X | g.32454673C= | CA2422811187 | DMD | n.3799G= c.3592G= (p.Glu1198=) c.3580G= (p.Glu1194=) c.94-89474G= (n.94-89474G=) c.94-89963G= (n.94-89963G=) n.336-237610G= c.3568G= (p.Glu1190=) c.3223G= (p.Glu1075=) c.3463G= (p.Glu1155=) | |
X | g.32454673C>G | CA412662863 | DMD | n.3799G>C c.3592G>C (p.Glu1198Gln) c.3580G>C (p.Glu1194Gln) c.94-89474G>C (n.94-89474G>C) c.94-89963G>C (n.94-89963G>C) n.336-237610G>C c.3568G>C (p.Glu1190Gln) c.3223G>C (p.Glu1075Gln) c.3463G>C (p.Glu1155Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454673C>T | CA10379239 | DMD | n.3799G>A c.3592G>A (p.Glu1198Lys) c.3580G>A (p.Glu1194Lys) c.94-89474G>A (n.94-89474G>A) c.94-89963G>A (n.94-89963G>A) n.336-237610G>A c.3568G>A (p.Glu1190Lys) c.3223G>A (p.Glu1075Lys) c.3463G>A (p.Glu1155Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454673_32454676del | CA2820327610 | DMD | n.3796_3799del c.3589_3592del (p.Val1197LysfsTer3) c.3577_3580del (p.Val1193LysfsTer3) c.94-89477_94-89474del (n.94-89477_94-89474del) c.94-89966_94-89963del (n.94-89966_94-89963del) n.336-237613_336-237610del c.3565_3568del (p.Val1189LysfsTer3) c.3220_3223del (p.Val1074LysfsTer3) c.3460_3463del (p.Val1154LysfsTer3) | |
X | g.32454674A>C | CA515715230 | DMD | n.3798T>G c.3591T>G (p.Val1197=) c.3579T>G (p.Val1193=) c.94-89475T>G (n.94-89475T>G) c.94-89964T>G (n.94-89964T>G) n.336-237611T>G c.3567T>G (p.Val1189=) c.3222T>G (p.Val1074=) c.3462T>G (p.Val1154=) | |
X | g.32454674A>G | CA515715231 | DMD | n.3798T>C c.3591T>C (p.Val1197=) c.3579T>C (p.Val1193=) c.94-89475T>C (n.94-89475T>C) c.94-89964T>C (n.94-89964T>C) n.336-237611T>C c.3567T>C (p.Val1189=) c.3222T>C (p.Val1074=) c.3462T>C (p.Val1154=) | gnomAD v4 |
X | g.32454674A>T | CA515715232 | DMD | n.3798T>A c.3591T>A (p.Val1197=) c.3579T>A (p.Val1193=) c.94-89475T>A (n.94-89475T>A) c.94-89964T>A (n.94-89964T>A) n.336-237611T>A c.3567T>A (p.Val1189=) c.3222T>A (p.Val1074=) c.3462T>A (p.Val1154=) | gnomAD v3 gnomAD v4 |
X | g.32454675A= | CA2422811188 | DMD | n.3797T= c.3590T= (p.Val1197=) c.3578T= (p.Val1193=) c.94-89476T= (n.94-89476T=) c.94-89965T= (n.94-89965T=) n.336-237612T= c.3566T= (p.Val1189=) c.3221T= (p.Val1074=) c.3461T= (p.Val1154=) | |
X | g.32454675A>C | CA412662864 | DMD | n.3797T>G c.3590T>G (p.Val1197Gly) c.3578T>G (p.Val1193Gly) c.94-89476T>G (n.94-89476T>G) c.94-89965T>G (n.94-89965T>G) n.336-237612T>G c.3566T>G (p.Val1189Gly) c.3221T>G (p.Val1074Gly) c.3461T>G (p.Val1154Gly) | |
X | g.32454675A>G | CA10379240 | DMD | n.3797T>C c.3590T>C (p.Val1197Ala) c.3578T>C (p.Val1193Ala) c.94-89476T>C (n.94-89476T>C) c.94-89965T>C (n.94-89965T>C) n.336-237612T>C c.3566T>C (p.Val1189Ala) c.3221T>C (p.Val1074Ala) c.3461T>C (p.Val1154Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454675A>T | CA412662865 | DMD | n.3797T>A c.3590T>A (p.Val1197Asp) c.3578T>A (p.Val1193Asp) c.94-89476T>A (n.94-89476T>A) c.94-89965T>A (n.94-89965T>A) n.336-237612T>A c.3566T>A (p.Val1189Asp) c.3221T>A (p.Val1074Asp) c.3461T>A (p.Val1154Asp) | gnomAD v3 gnomAD v4 |
X | g.32454676C>A | CA327996937 | DMD | n.3796G>T c.3589G>T (p.Val1197Phe) c.3577G>T (p.Val1193Phe) c.94-89477G>T (n.94-89477G>T) c.94-89966G>T (n.94-89966G>T) n.336-237613G>T c.3565G>T (p.Val1189Phe) c.3220G>T (p.Val1074Phe) c.3460G>T (p.Val1154Phe) | dbSNP gnomAD v4 |
X | g.32454676C= | CA2422811189 | DMD | n.3796G= c.3589G= (p.Val1197=) c.3577G= (p.Val1193=) c.94-89477G= (n.94-89477G=) c.94-89966G= (n.94-89966G=) n.336-237613G= c.3565G= (p.Val1189=) c.3220G= (p.Val1074=) c.3460G= (p.Val1154=) | |
X | g.32454676C>G | CA10379241 | DMD | n.3796G>C c.3589G>C (p.Val1197Leu) c.3577G>C (p.Val1193Leu) c.94-89477G>C (n.94-89477G>C) c.94-89966G>C (n.94-89966G>C) n.336-237613G>C c.3565G>C (p.Val1189Leu) c.3220G>C (p.Val1074Leu) c.3460G>C (p.Val1154Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454676C>T | CA412662866 | DMD | n.3796G>A c.3589G>A (p.Val1197Ile) c.3577G>A (p.Val1193Ile) c.94-89477G>A (n.94-89477G>A) c.94-89966G>A (n.94-89966G>A) n.336-237613G>A c.3565G>A (p.Val1189Ile) c.3220G>A (p.Val1074Ile) c.3460G>A (p.Val1154Ile) | gnomAD v3 gnomAD v4 |
X | g.32454677T>A | CA515715236 | DMD | n.3795A>T c.3588A>T (p.Ala1196=) c.3576A>T (p.Ala1192=) c.94-89478A>T (n.94-89478A>T) c.94-89967A>T (n.94-89967A>T) n.336-237614A>T c.3564A>T (p.Ala1188=) c.3219A>T (p.Ala1073=) c.3459A>T (p.Ala1153=) | |
X | g.32454677T>C | CA515715235 | DMD | n.3795A>G c.3588A>G (p.Ala1196=) c.3576A>G (p.Ala1192=) c.94-89478A>G (n.94-89478A>G) c.94-89967A>G (n.94-89967A>G) n.336-237614A>G c.3564A>G (p.Ala1188=) c.3219A>G (p.Ala1073=) c.3459A>G (p.Ala1153=) | ClinVar |
X | g.32454677T>G | CA515715233 | DMD | n.3795A>C c.3588A>C (p.Ala1196=) c.3576A>C (p.Ala1192=) c.94-89478A>C (n.94-89478A>C) c.94-89967A>C (n.94-89967A>C) n.336-237614A>C c.3564A>C (p.Ala1188=) c.3219A>C (p.Ala1073=) c.3459A>C (p.Ala1153=) | |
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=) | |
X | g.32454692A>C | CA412662909 | DMD | n.3780T>G c.3573T>G (p.Asp1191Glu) c.3561T>G (p.Asp1187Glu) c.94-89493T>G (n.94-89493T>G) c.94-89982T>G (n.94-89982T>G) n.336-237629T>G c.3549T>G (p.Asp1183Glu) c.3204T>G (p.Asp1068Glu) c.3444T>G (p.Asp1148Glu) | ClinVar dbSNP gnomAD v4 |
X | g.32454692A>G | CA515715251 | DMD | n.3780T>C c.3573T>C (p.Asp1191=) c.3561T>C (p.Asp1187=) c.94-89493T>C (n.94-89493T>C) c.94-89982T>C (n.94-89982T>C) n.336-237629T>C c.3549T>C (p.Asp1183=) c.3204T>C (p.Asp1068=) c.3444T>C (p.Asp1148=) | gnomAD v4 |
X | g.32454692A>T | CA412662911 | DMD | n.3780T>A c.3573T>A (p.Asp1191Glu) c.3561T>A (p.Asp1187Glu) c.94-89493T>A (n.94-89493T>A) c.94-89982T>A (n.94-89982T>A) n.336-237629T>A c.3549T>A (p.Asp1183Glu) c.3204T>A (p.Asp1068Glu) c.3444T>A (p.Asp1148Glu) | gnomAD v3 gnomAD v4 |
X | g.32454693T>A | CA412662914 | DMD | n.3779A>T c.3572A>T (p.Asp1191Val) c.3560A>T (p.Asp1187Val) c.94-89494A>T (n.94-89494A>T) c.94-89983A>T (n.94-89983A>T) n.336-237630A>T c.3548A>T (p.Asp1183Val) c.3203A>T (p.Asp1068Val) c.3443A>T (p.Asp1148Val) | |
X | g.32454693T>C | CA10379244 | DMD | n.3779A>G c.3572A>G (p.Asp1191Gly) c.3560A>G (p.Asp1187Gly) c.94-89494A>G (n.94-89494A>G) c.94-89983A>G (n.94-89983A>G) n.336-237630A>G c.3548A>G (p.Asp1183Gly) c.3203A>G (p.Asp1068Gly) c.3443A>G (p.Asp1148Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.32454693T>G | CA412662917 | DMD | n.3779A>C c.3572A>C (p.Asp1191Ala) c.3560A>C (p.Asp1187Ala) c.94-89494A>C (n.94-89494A>C) c.94-89983A>C (n.94-89983A>C) n.336-237630A>C c.3548A>C (p.Asp1183Ala) c.3203A>C (p.Asp1068Ala) c.3443A>C (p.Asp1148Ala) | |
X | g.32454693T= | CA2422811196 | DMD | n.3779A= c.3572A= (p.Asp1191=) c.3560A= (p.Asp1187=) c.94-89494A= (n.94-89494A=) c.94-89983A= (n.94-89983A=) n.336-237630A= c.3548A= (p.Asp1183=) c.3203A= (p.Asp1068=) c.3443A= (p.Asp1148=) | |
X | g.32454694C>A | CA412662920 | DMD | n.3778G>T c.3571G>T (p.Asp1191Tyr) c.3559G>T (p.Asp1187Tyr) c.94-89495G>T (n.94-89495G>T) c.94-89984G>T (n.94-89984G>T) n.336-237631G>T c.3547G>T (p.Asp1183Tyr) c.3202G>T (p.Asp1068Tyr) c.3442G>T (p.Asp1148Tyr) | |
X | g.32454694C= | CA2422811197 | DMD | n.3778G= c.3571G= (p.Asp1191=) c.3559G= (p.Asp1187=) c.94-89495G= (n.94-89495G=) c.94-89984G= (n.94-89984G=) n.336-237631G= c.3547G= (p.Asp1183=) c.3202G= (p.Asp1068=) c.3442G= (p.Asp1148=) | |
X | g.32454694C>G | CA412662922 | DMD | n.3778G>C c.3571G>C (p.Asp1191His) c.3559G>C (p.Asp1187His) c.94-89495G>C (n.94-89495G>C) c.94-89984G>C (n.94-89984G>C) n.336-237631G>C c.3547G>C (p.Asp1183His) c.3202G>C (p.Asp1068His) c.3442G>C (p.Asp1148His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32454694C>T | CA412662925 | DMD | n.3778G>A c.3571G>A (p.Asp1191Asn) c.3559G>A (p.Asp1187Asn) c.94-89495G>A (n.94-89495G>A) c.94-89984G>A (n.94-89984G>A) n.336-237631G>A c.3547G>A (p.Asp1183Asn) c.3202G>A (p.Asp1068Asn) c.3442G>A (p.Asp1148Asn) | gnomAD v3 gnomAD v4 |
X | g.32454695T>A | CA515715255 | DMD | n.3777A>T c.3570A>T (p.Pro1190=) c.3558A>T (p.Pro1186=) c.94-89496A>T (n.94-89496A>T) c.94-89985A>T (n.94-89985A>T) n.336-237632A>T c.3546A>T (p.Pro1182=) c.3201A>T (p.Pro1067=) c.3441A>T (p.Pro1147=) | |
X | g.32454695T>C | CA515715256 | DMD | n.3777A>G c.3570A>G (p.Pro1190=) c.3558A>G (p.Pro1186=) c.94-89496A>G (n.94-89496A>G) c.94-89985A>G (n.94-89985A>G) n.336-237632A>G c.3546A>G (p.Pro1182=) c.3201A>G (p.Pro1067=) c.3441A>G (p.Pro1147=) | ClinVar gnomAD v4 |
X | g.32454695T>G | CA515715257 | DMD | n.3777A>C c.3570A>C (p.Pro1190=) c.3558A>C (p.Pro1186=) c.94-89496A>C (n.94-89496A>C) c.94-89985A>C (n.94-89985A>C) n.336-237632A>C c.3546A>C (p.Pro1182=) c.3201A>C (p.Pro1067=) c.3441A>C (p.Pro1147=) | ClinVar |
X | g.32454696G>A | CA412662927 | DMD | n.3776C>T c.3569C>T (p.Pro1190Leu) c.3557C>T (p.Pro1186Leu) c.94-89497C>T (n.94-89497C>T) c.94-89986C>T (n.94-89986C>T) n.336-237633C>T c.3545C>T (p.Pro1182Leu) c.3200C>T (p.Pro1067Leu) c.3440C>T (p.Pro1147Leu) | |
X | g.32454696G>C | CA412662929 | DMD | n.3776C>G c.3569C>G (p.Pro1190Arg) c.3557C>G (p.Pro1186Arg) c.94-89497C>G (n.94-89497C>G) c.94-89986C>G (n.94-89986C>G) n.336-237633C>G c.3545C>G (p.Pro1182Arg) c.3200C>G (p.Pro1067Arg) c.3440C>G (p.Pro1147Arg) | |
X | g.32454696G= | CA2422811198 | DMD | n.3776C= c.3569C= (p.Pro1190=) c.3557C= (p.Pro1186=) c.94-89497C= (n.94-89497C=) c.94-89986C= (n.94-89986C=) n.336-237633C= c.3545C= (p.Pro1182=) c.3200C= (p.Pro1067=) c.3440C= (p.Pro1147=) | |
X | g.32454696G>T | CA327996959 | DMD | n.3776C>A c.3569C>A (p.Pro1190Gln) c.3557C>A (p.Pro1186Gln) c.94-89497C>A (n.94-89497C>A) c.94-89986C>A (n.94-89986C>A) n.336-237633C>A c.3545C>A (p.Pro1182Gln) c.3200C>A (p.Pro1067Gln) c.3440C>A (p.Pro1147Gln) | dbSNP gnomAD v3 gnomAD v4 |
X | g.32454697del | CA2579579889 | DMD | n.3776del c.3569del (p.Pro1190GlnfsTer11) c.3557del (p.Pro1186GlnfsTer11) c.94-89497del (n.94-89497del) c.94-89986del (n.94-89986del) n.336-237633del c.3545del (p.Pro1182GlnfsTer11) c.3200del (p.Pro1067GlnfsTer11) c.3440del (p.Pro1147GlnfsTer11) | |
X | g.32454697G>A | CA412662935 | DMD | n.3775C>T c.3568C>T (p.Pro1190Ser) c.3556C>T (p.Pro1186Ser) c.94-89498C>T (n.94-89498C>T) c.94-89987C>T (n.94-89987C>T) n.336-237634C>T c.3544C>T (p.Pro1182Ser) c.3199C>T (p.Pro1067Ser) c.3439C>T (p.Pro1147Ser) | gnomAD v4 |
X | g.32454697G>C | CA412662936 | DMD | n.3775C>G c.3568C>G (p.Pro1190Ala) c.3556C>G (p.Pro1186Ala) c.94-89498C>G (n.94-89498C>G) c.94-89987C>G (n.94-89987C>G) n.336-237634C>G c.3544C>G (p.Pro1182Ala) c.3199C>G (p.Pro1067Ala) c.3439C>G (p.Pro1147Ala) | gnomAD v4 |
X | g.32454697G>T | CA412662933 | DMD | n.3775C>A c.3568C>A (p.Pro1190Thr) c.3556C>A (p.Pro1186Thr) c.94-89498C>A (n.94-89498C>A) c.94-89987C>A (n.94-89987C>A) n.336-237634C>A c.3544C>A (p.Pro1182Thr) c.3199C>A (p.Pro1067Thr) c.3439C>A (p.Pro1147Thr) | gnomAD v3 gnomAD v4 |
X | g.32454698A= | CA2422811199 | DMD | n.3774T= c.3567T= (p.Thr1189=) c.3555T= (p.Thr1185=) c.94-89499T= (n.94-89499T=) c.94-89988T= (n.94-89988T=) n.336-237635T= c.3543T= (p.Thr1181=) c.3198T= (p.Thr1066=) c.3438T= (p.Thr1146=) | |
X | g.32454698A>C | CA515715258 | DMD | n.3774T>G c.3567T>G (p.Thr1189=) c.3555T>G (p.Thr1185=) c.94-89499T>G (n.94-89499T>G) c.94-89988T>G (n.94-89988T>G) n.336-237635T>G c.3543T>G (p.Thr1181=) c.3198T>G (p.Thr1066=) c.3438T>G (p.Thr1146=) | |
X | g.32454698A>G | CA327996962 | DMD | n.3774T>C c.3567T>C (p.Thr1189=) c.3555T>C (p.Thr1185=) c.94-89499T>C (n.94-89499T>C) c.94-89988T>C (n.94-89988T>C) n.336-237635T>C c.3543T>C (p.Thr1181=) c.3198T>C (p.Thr1066=) c.3438T>C (p.Thr1146=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32454698A>T | CA10379245 | DMD | n.3774T>A c.3567T>A (p.Thr1189=) c.3555T>A (p.Thr1185=) c.94-89499T>A (n.94-89499T>A) c.94-89988T>A (n.94-89988T>A) n.336-237635T>A c.3543T>A (p.Thr1181=) c.3198T>A (p.Thr1066=) c.3438T>A (p.Thr1146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454699G>A | CA412662941 | DMD | n.3773C>T c.3566C>T (p.Thr1189Ile) c.3554C>T (p.Thr1185Ile) c.94-89500C>T (n.94-89500C>T) c.94-89989C>T (n.94-89989C>T) n.336-237636C>T c.3542C>T (p.Thr1181Ile) c.3197C>T (p.Thr1066Ile) c.3437C>T (p.Thr1146Ile) | |
X | g.32454699G>C | CA412662943 | DMD | n.3773C>G c.3566C>G (p.Thr1189Ser) c.3554C>G (p.Thr1185Ser) c.94-89500C>G (n.94-89500C>G) c.94-89989C>G (n.94-89989C>G) n.336-237636C>G c.3542C>G (p.Thr1181Ser) c.3197C>G (p.Thr1066Ser) c.3437C>G (p.Thr1146Ser) | |
X | g.32454699G>T | CA412662945 | DMD | n.3773C>A c.3566C>A (p.Thr1189Asn) c.3554C>A (p.Thr1185Asn) c.94-89500C>A (n.94-89500C>A) c.94-89989C>A (n.94-89989C>A) n.336-237636C>A c.3542C>A (p.Thr1181Asn) c.3197C>A (p.Thr1066Asn) c.3437C>A (p.Thr1146Asn) | gnomAD v3 gnomAD v4 |
X | g.32454700T>A | CA412662952 | DMD | n.3772A>T c.3565A>T (p.Thr1189Ser) c.3553A>T (p.Thr1185Ser) c.94-89501A>T (n.94-89501A>T) c.94-89990A>T (n.94-89990A>T) n.336-237637A>T c.3541A>T (p.Thr1181Ser) c.3196A>T (p.Thr1066Ser) c.3436A>T (p.Thr1146Ser) | |
X | g.32454700T>C | CA412662948 | DMD | n.3772A>G c.3565A>G (p.Thr1189Ala) c.3553A>G (p.Thr1185Ala) c.94-89501A>G (n.94-89501A>G) c.94-89990A>G (n.94-89990A>G) n.336-237637A>G c.3541A>G (p.Thr1181Ala) c.3196A>G (p.Thr1066Ala) c.3436A>G (p.Thr1146Ala) | |
X | g.32454700T>G | CA412662950 | DMD | n.3772A>C c.3565A>C (p.Thr1189Pro) c.3553A>C (p.Thr1185Pro) c.94-89501A>C (n.94-89501A>C) c.94-89990A>C (n.94-89990A>C) n.336-237637A>C c.3541A>C (p.Thr1181Pro) c.3196A>C (p.Thr1066Pro) c.3436A>C (p.Thr1146Pro) | |
X | g.32454703dup | CA2695231950 | DMD | n.3772dup c.3565dup (p.Thr1189AsnfsTer4) c.3553dup (p.Thr1185AsnfsTer4) c.94-89501dup (n.94-89501dup) c.94-89990dup (n.94-89990dup) n.336-237637dup c.3541dup (p.Thr1181AsnfsTer4) c.3196dup (p.Thr1066AsnfsTer4) c.3436dup (p.Thr1146AsnfsTer4) | |
X | g.32454703del | CA2573158577 | DMD | n.3772del c.3565del (p.Thr1189LeufsTer12) c.3553del (p.Thr1185LeufsTer12) c.94-89501del (n.94-89501del) c.94-89990del (n.94-89990del) n.336-237637del c.3541del (p.Thr1181LeufsTer12) c.3196del (p.Thr1066LeufsTer12) c.3436del (p.Thr1146LeufsTer12) | ClinVar dbSNP |
X | g.32454701T>A | CA412662956 | DMD | n.3771A>T c.3564A>T (p.Lys1188Asn) c.3552A>T (p.Lys1184Asn) c.94-89502A>T (n.94-89502A>T) c.94-89991A>T (n.94-89991A>T) n.336-237638A>T c.3540A>T (p.Lys1180Asn) c.3195A>T (p.Lys1065Asn) c.3435A>T (p.Lys1145Asn) | |
X | g.32454701T>C | CA515715260 | DMD | n.3771A>G c.3564A>G (p.Lys1188=) c.3552A>G (p.Lys1184=) c.94-89502A>G (n.94-89502A>G) c.94-89991A>G (n.94-89991A>G) n.336-237638A>G c.3540A>G (p.Lys1180=) c.3195A>G (p.Lys1065=) c.3435A>G (p.Lys1145=) | |
X | g.32454701T>G | CA412662958 | DMD | n.3771A>C c.3564A>C (p.Lys1188Asn) c.3552A>C (p.Lys1184Asn) c.94-89502A>C (n.94-89502A>C) c.94-89991A>C (n.94-89991A>C) n.336-237638A>C c.3540A>C (p.Lys1180Asn) c.3195A>C (p.Lys1065Asn) c.3435A>C (p.Lys1145Asn) | |
X | g.32454702T>A | CA412662960 | DMD | n.3770A>T c.3563A>T (p.Lys1188Ile) c.3551A>T (p.Lys1184Ile) c.94-89503A>T (n.94-89503A>T) c.94-89992A>T (n.94-89992A>T) n.336-237639A>T c.3539A>T (p.Lys1180Ile) c.3194A>T (p.Lys1065Ile) c.3434A>T (p.Lys1145Ile) | gnomAD v4 |
X | g.32454702T>C | CA412662963 | DMD | n.3770A>G c.3563A>G (p.Lys1188Arg) c.3551A>G (p.Lys1184Arg) c.94-89503A>G (n.94-89503A>G) c.94-89992A>G (n.94-89992A>G) n.336-237639A>G c.3539A>G (p.Lys1180Arg) c.3194A>G (p.Lys1065Arg) c.3434A>G (p.Lys1145Arg) | |
X | g.32454702T>G | CA412662965 | DMD | n.3770A>C c.3563A>C (p.Lys1188Thr) c.3551A>C (p.Lys1184Thr) c.94-89503A>C (n.94-89503A>C) c.94-89992A>C (n.94-89992A>C) n.336-237639A>C c.3539A>C (p.Lys1180Thr) c.3194A>C (p.Lys1065Thr) c.3434A>C (p.Lys1145Thr) | |
X | g.32454703T>A | CA412662972 | DMD | n.3769A>T c.3562A>T (p.Lys1188Ter) c.3550A>T (p.Lys1184Ter) c.94-89504A>T (n.94-89504A>T) c.94-89993A>T (n.94-89993A>T) n.336-237640A>T c.3538A>T (p.Lys1180Ter) c.3193A>T (p.Lys1065Ter) c.3433A>T (p.Lys1145Ter) | ClinVar dbSNP |
X | g.32454703T>C | CA412662971 | DMD | n.3769A>G c.3562A>G (p.Lys1188Glu) c.3550A>G (p.Lys1184Glu) c.94-89504A>G (n.94-89504A>G) c.94-89993A>G (n.94-89993A>G) n.336-237640A>G c.3538A>G (p.Lys1180Glu) c.3193A>G (p.Lys1065Glu) c.3433A>G (p.Lys1145Glu) | ClinVar dbSNP |
X | g.32454703T>G | CA412662968 | DMD | n.3769A>C c.3562A>C (p.Lys1188Gln) c.3550A>C (p.Lys1184Gln) c.94-89504A>C (n.94-89504A>C) c.94-89993A>C (n.94-89993A>C) n.336-237640A>C c.3538A>C (p.Lys1180Gln) c.3193A>C (p.Lys1065Gln) c.3433A>C (p.Lys1145Gln) | |
X | g.32454704A= | CA2422811200 | DMD | n.3768T= c.3561T= (p.Tyr1187=) c.3549T= (p.Tyr1183=) c.94-89505T= (n.94-89505T=) c.94-89994T= (n.94-89994T=) n.336-237641T= c.3537T= (p.Tyr1179=) c.3192T= (p.Tyr1064=) c.3432T= (p.Tyr1144=) | |
X | g.32454704A>C | CA412662976 | DMD | n.3768T>G c.3561T>G (p.Tyr1187Ter) c.3549T>G (p.Tyr1183Ter) c.94-89505T>G (n.94-89505T>G) c.94-89994T>G (n.94-89994T>G) n.336-237641T>G c.3537T>G (p.Tyr1179Ter) c.3192T>G (p.Tyr1064Ter) c.3432T>G (p.Tyr1144Ter) | |
X | g.32454704A>G | CA10379246 | DMD | n.3768T>C c.3561T>C (p.Tyr1187=) c.3549T>C (p.Tyr1183=) c.94-89505T>C (n.94-89505T>C) c.94-89994T>C (n.94-89994T>C) n.336-237641T>C c.3537T>C (p.Tyr1179=) c.3192T>C (p.Tyr1064=) c.3432T>C (p.Tyr1144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454704A>T | CA412662977 | DMD | n.3768T>A c.3561T>A (p.Tyr1187Ter) c.3549T>A (p.Tyr1183Ter) c.94-89505T>A (n.94-89505T>A) c.94-89994T>A (n.94-89994T>A) n.336-237641T>A c.3537T>A (p.Tyr1179Ter) c.3192T>A (p.Tyr1064Ter) c.3432T>A (p.Tyr1144Ter) | gnomAD v3 gnomAD v4 |
X | g.32454705T>A | CA412662981 | DMD | n.3767A>T c.3560A>T (p.Tyr1187Phe) c.3548A>T (p.Tyr1183Phe) c.94-89506A>T (n.94-89506A>T) c.94-89995A>T (n.94-89995A>T) n.336-237642A>T c.3536A>T (p.Tyr1179Phe) c.3191A>T (p.Tyr1064Phe) c.3431A>T (p.Tyr1144Phe) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32454705T>C | CA10379247 | DMD | n.3767A>G c.3560A>G (p.Tyr1187Cys) c.3548A>G (p.Tyr1183Cys) c.94-89506A>G (n.94-89506A>G) c.94-89995A>G (n.94-89995A>G) n.336-237642A>G c.3536A>G (p.Tyr1179Cys) c.3191A>G (p.Tyr1064Cys) c.3431A>G (p.Tyr1144Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454705T>G | CA412662983 | DMD | n.3767A>C c.3560A>C (p.Tyr1187Ser) c.3548A>C (p.Tyr1183Ser) c.94-89506A>C (n.94-89506A>C) c.94-89995A>C (n.94-89995A>C) n.336-237642A>C c.3536A>C (p.Tyr1179Ser) c.3191A>C (p.Tyr1064Ser) c.3431A>C (p.Tyr1144Ser) | |
X | g.32454705T= | CA2422811201 | DMD | n.3767A= c.3560A= (p.Tyr1187=) c.3548A= (p.Tyr1183=) c.94-89506A= (n.94-89506A=) c.94-89995A= (n.94-89995A=) n.336-237642A= c.3536A= (p.Tyr1179=) c.3191A= (p.Tyr1064=) c.3431A= (p.Tyr1144=) | |
X | g.32454706A= | CA2422811202 | DMD | n.3766T= c.3559T= (p.Tyr1187=) c.3547T= (p.Tyr1183=) c.94-89507T= (n.94-89507T=) c.94-89996T= (n.94-89996T=) n.336-237643T= c.3535T= (p.Tyr1179=) c.3190T= (p.Tyr1064=) c.3430T= (p.Tyr1144=) | |
X | g.32454706A>C | CA412662986 | DMD | n.3766T>G c.3559T>G (p.Tyr1187Asp) c.3547T>G (p.Tyr1183Asp) c.94-89507T>G (n.94-89507T>G) c.94-89996T>G (n.94-89996T>G) n.336-237643T>G c.3535T>G (p.Tyr1179Asp) c.3190T>G (p.Tyr1064Asp) c.3430T>G (p.Tyr1144Asp) | |
X | g.32454706A>G | CA412662987 | DMD | n.3766T>C c.3559T>C (p.Tyr1187His) c.3547T>C (p.Tyr1183His) c.94-89507T>C (n.94-89507T>C) c.94-89996T>C (n.94-89996T>C) n.336-237643T>C c.3535T>C (p.Tyr1179His) c.3190T>C (p.Tyr1064His) c.3430T>C (p.Tyr1144His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32454706A>T | CA412662990 | DMD | n.3766T>A c.3559T>A (p.Tyr1187Asn) c.3547T>A (p.Tyr1183Asn) c.94-89507T>A (n.94-89507T>A) c.94-89996T>A (n.94-89996T>A) n.336-237643T>A c.3535T>A (p.Tyr1179Asn) c.3190T>A (p.Tyr1064Asn) c.3430T>A (p.Tyr1144Asn) | |
X | g.32454707T>A | CA412662993 | DMD | n.3765A>T c.3558A>T (p.Glu1186Asp) c.3546A>T (p.Glu1182Asp) c.94-89508A>T (n.94-89508A>T) c.94-89997A>T (n.94-89997A>T) n.336-237644A>T c.3534A>T (p.Glu1178Asp) c.3189A>T (p.Glu1063Asp) c.3429A>T (p.Glu1143Asp) | |
X | g.32454707T>C | CA515715264 | DMD | n.3765A>G c.3558A>G (p.Glu1186=) c.3546A>G (p.Glu1182=) c.94-89508A>G (n.94-89508A>G) c.94-89997A>G (n.94-89997A>G) n.336-237644A>G c.3534A>G (p.Glu1178=) c.3189A>G (p.Glu1063=) c.3429A>G (p.Glu1143=) | |
X | g.32454707T>G | CA412662995 | DMD | n.3765A>C c.3558A>C (p.Glu1186Asp) c.3546A>C (p.Glu1182Asp) c.94-89508A>C (n.94-89508A>C) c.94-89997A>C (n.94-89997A>C) n.336-237644A>C c.3534A>C (p.Glu1178Asp) c.3189A>C (p.Glu1063Asp) c.3429A>C (p.Glu1143Asp) | |
X | g.32454708T>A | CA327996966 | DMD | n.3764A>T c.3557A>T (p.Glu1186Val) c.3545A>T (p.Glu1182Val) c.94-89509A>T (n.94-89509A>T) c.94-89998A>T (n.94-89998A>T) n.336-237645A>T c.3533A>T (p.Glu1178Val) c.3188A>T (p.Glu1063Val) c.3428A>T (p.Glu1143Val) | ClinVar dbSNP gnomAD v4 |
X | g.32454708T>C | CA412662998 | DMD | n.3764A>G c.3557A>G (p.Glu1186Gly) c.3545A>G (p.Glu1182Gly) c.94-89509A>G (n.94-89509A>G) c.94-89998A>G (n.94-89998A>G) n.336-237645A>G c.3533A>G (p.Glu1178Gly) c.3188A>G (p.Glu1063Gly) c.3428A>G (p.Glu1143Gly) | |
X | g.32454708T>G | CA412663000 | DMD | n.3764A>C c.3557A>C (p.Glu1186Ala) c.3545A>C (p.Glu1182Ala) c.94-89509A>C (n.94-89509A>C) c.94-89998A>C (n.94-89998A>C) n.336-237645A>C c.3533A>C (p.Glu1178Ala) c.3188A>C (p.Glu1063Ala) c.3428A>C (p.Glu1143Ala) | |
X | g.32454708T= | CA2422811203 | DMD | n.3764A= c.3557A= (p.Glu1186=) c.3545A= (p.Glu1182=) c.94-89509A= (n.94-89509A=) c.94-89998A= (n.94-89998A=) n.336-237645A= c.3533A= (p.Glu1178=) c.3188A= (p.Glu1063=) c.3428A= (p.Glu1143=) | |
X | g.32454709C>A | CA327996980 | DMD | n.3763G>T c.3556G>T (p.Glu1186Ter) c.3544G>T (p.Glu1182Ter) c.94-89510G>T (n.94-89510G>T) c.94-89999G>T (n.94-89999G>T) n.336-237646G>T c.3532G>T (p.Glu1178Ter) c.3187G>T (p.Glu1063Ter) c.3427G>T (p.Glu1143Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
X | g.32454709C= | CA2422811204 | DMD | n.3763G= c.3556G= (p.Glu1186=) c.3544G= (p.Glu1182=) c.94-89510G= (n.94-89510G=) c.94-89999G= (n.94-89999G=) n.336-237646G= c.3532G= (p.Glu1178=) c.3187G= (p.Glu1063=) c.3427G= (p.Glu1143=) | |
X | g.32454709C>G | CA412663001 | DMD | n.3763G>C c.3556G>C (p.Glu1186Gln) c.3544G>C (p.Glu1182Gln) c.94-89510G>C (n.94-89510G>C) c.94-89999G>C (n.94-89999G>C) n.336-237646G>C c.3532G>C (p.Glu1178Gln) c.3187G>C (p.Glu1063Gln) c.3427G>C (p.Glu1143Gln) | COSMIC COSMIC COSMIC |
X | g.32454709C>T | CA412663003 | DMD | n.3763G>A c.3556G>A (p.Glu1186Lys) c.3544G>A (p.Glu1182Lys) c.94-89510G>A (n.94-89510G>A) c.94-89999G>A (n.94-89999G>A) n.336-237646G>A c.3532G>A (p.Glu1178Lys) c.3187G>A (p.Glu1063Lys) c.3427G>A (p.Glu1143Lys) | |
X | g.32454710A>C | CA412663007 | DMD | n.3762T>G c.3555T>G (p.Phe1185Leu) c.3543T>G (p.Phe1181Leu) c.94-89511T>G (n.94-89511T>G) c.94-90000T>G (n.94-90000T>G) n.336-237647T>G c.3531T>G (p.Phe1177Leu) c.3186T>G (p.Phe1062Leu) c.3426T>G (p.Phe1142Leu) | |
X | g.32454710A>G | CA515715266 | DMD | n.3762T>C c.3555T>C (p.Phe1185=) c.3543T>C (p.Phe1181=) c.94-89511T>C (n.94-89511T>C) c.94-90000T>C (n.94-90000T>C) n.336-237647T>C c.3531T>C (p.Phe1177=) c.3186T>C (p.Phe1062=) c.3426T>C (p.Phe1142=) | |
X | g.32454710A>T | CA412663009 | DMD | n.3762T>A c.3555T>A (p.Phe1185Leu) c.3543T>A (p.Phe1181Leu) c.94-89511T>A (n.94-89511T>A) c.94-90000T>A (n.94-90000T>A) n.336-237647T>A c.3531T>A (p.Phe1177Leu) c.3186T>A (p.Phe1062Leu) c.3426T>A (p.Phe1142Leu) | |
X | g.32454711A>C | CA412663012 | DMD | n.3761T>G c.3554T>G (p.Phe1185Cys) c.3542T>G (p.Phe1181Cys) c.94-89512T>G (n.94-89512T>G) c.94-90001T>G (n.94-90001T>G) n.336-237648T>G c.3530T>G (p.Phe1177Cys) c.3185T>G (p.Phe1062Cys) c.3425T>G (p.Phe1142Cys) | |
X | g.32454711A>G | CA412663014 | DMD | n.3761T>C c.3554T>C (p.Phe1185Ser) c.3542T>C (p.Phe1181Ser) c.94-89512T>C (n.94-89512T>C) c.94-90001T>C (n.94-90001T>C) n.336-237648T>C c.3530T>C (p.Phe1177Ser) c.3185T>C (p.Phe1062Ser) c.3425T>C (p.Phe1142Ser) | COSMIC COSMIC |
X | g.32454711A>T | CA412663016 | DMD | n.3761T>A c.3554T>A (p.Phe1185Tyr) c.3542T>A (p.Phe1181Tyr) c.94-89512T>A (n.94-89512T>A) c.94-90001T>A (n.94-90001T>A) n.336-237648T>A c.3530T>A (p.Phe1177Tyr) c.3185T>A (p.Phe1062Tyr) c.3425T>A (p.Phe1142Tyr) | |
X | g.32454712A>C | CA412663018 | DMD | n.3760T>G c.3553T>G (p.Phe1185Val) c.3541T>G (p.Phe1181Val) c.94-89513T>G (n.94-89513T>G) c.94-90002T>G (n.94-90002T>G) n.336-237649T>G c.3529T>G (p.Phe1177Val) c.3184T>G (p.Phe1062Val) c.3424T>G (p.Phe1142Val) | |
X | g.32454712A>G | CA412663019 | DMD | n.3760T>C c.3553T>C (p.Phe1185Leu) c.3541T>C (p.Phe1181Leu) c.94-89513T>C (n.94-89513T>C) c.94-90002T>C (n.94-90002T>C) n.336-237649T>C c.3529T>C (p.Phe1177Leu) c.3184T>C (p.Phe1062Leu) c.3424T>C (p.Phe1142Leu) | |
X | g.32454712A>T | CA412663020 | DMD | n.3760T>A c.3553T>A (p.Phe1185Ile) c.3541T>A (p.Phe1181Ile) c.94-89513T>A (n.94-89513T>A) c.94-90002T>A (n.94-90002T>A) n.336-237649T>A c.3529T>A (p.Phe1177Ile) c.3184T>A (p.Phe1062Ile) c.3424T>A (p.Phe1142Ile) | |
X | g.32454713A= | CA2422811205 | DMD | n.3759T= c.3552T= (p.Asp1184=) c.3540T= (p.Asp1180=) c.94-89514T= (n.94-89514T=) c.94-90003T= (n.94-90003T=) n.336-237650T= c.3528T= (p.Asp1176=) c.3183T= (p.Asp1061=) c.3423T= (p.Asp1141=) | |
X | g.32454713A>C | CA412663021 | DMD | n.3759T>G c.3552T>G (p.Asp1184Glu) c.3540T>G (p.Asp1180Glu) c.94-89514T>G (n.94-89514T>G) c.94-90003T>G (n.94-90003T>G) n.336-237650T>G c.3528T>G (p.Asp1176Glu) c.3183T>G (p.Asp1061Glu) c.3423T>G (p.Asp1141Glu) | |
X | g.32454713A>G | CA515715267 | DMD | n.3759T>C c.3552T>C (p.Asp1184=) c.3540T>C (p.Asp1180=) c.94-89514T>C (n.94-89514T>C) c.94-90003T>C (n.94-90003T>C) n.336-237650T>C c.3528T>C (p.Asp1176=) c.3183T>C (p.Asp1061=) c.3423T>C (p.Asp1141=) | |
X | g.32454713A>T | CA10379248 | DMD | n.3759T>A c.3552T>A (p.Asp1184Glu) c.3540T>A (p.Asp1180Glu) c.94-89514T>A (n.94-89514T>A) c.94-90003T>A (n.94-90003T>A) n.336-237650T>A c.3528T>A (p.Asp1176Glu) c.3183T>A (p.Asp1061Glu) c.3423T>A (p.Asp1141Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454714T>A | CA412663027 | DMD | n.3758A>T c.3551A>T (p.Asp1184Val) c.3539A>T (p.Asp1180Val) c.94-89515A>T (n.94-89515A>T) c.94-90004A>T (n.94-90004A>T) n.336-237651A>T c.3527A>T (p.Asp1176Val) c.3182A>T (p.Asp1061Val) c.3422A>T (p.Asp1141Val) | |
X | g.32454714T>C | CA412663029 | DMD | n.3758A>G c.3551A>G (p.Asp1184Gly) c.3539A>G (p.Asp1180Gly) c.94-89515A>G (n.94-89515A>G) c.94-90004A>G (n.94-90004A>G) n.336-237651A>G c.3527A>G (p.Asp1176Gly) c.3182A>G (p.Asp1061Gly) c.3422A>G (p.Asp1141Gly) | gnomAD v4 |
X | g.32454714T>G | CA412663025 | DMD | n.3758A>C c.3551A>C (p.Asp1184Ala) c.3539A>C (p.Asp1180Ala) c.94-89515A>C (n.94-89515A>C) c.94-90004A>C (n.94-90004A>C) n.336-237651A>C c.3527A>C (p.Asp1176Ala) c.3182A>C (p.Asp1061Ala) c.3422A>C (p.Asp1141Ala) | |
X | g.32454720_32454721del | CA2695231952 | DMD | n.3757_3758del c.3550_3551del (p.Asp1184PhefsTer2) c.3538_3539del (p.Asp1180PhefsTer2) c.94-89516_94-89515del (n.94-89516_94-89515del) c.94-90005_94-90004del (n.94-90005_94-90004del) n.336-237652_336-237651del c.3526_3527del (p.Asp1176PhefsTer2) c.3181_3182del (p.Asp1061PhefsTer2) c.3421_3422del (p.Asp1141PhefsTer2) | |
X | g.32454715C>A | CA412663031 | DMD | n.3757G>T c.3550G>T (p.Asp1184Tyr) c.3538G>T (p.Asp1180Tyr) c.94-89516G>T (n.94-89516G>T) c.94-90005G>T (n.94-90005G>T) n.336-237652G>T c.3526G>T (p.Asp1176Tyr) c.3181G>T (p.Asp1061Tyr) c.3421G>T (p.Asp1141Tyr) | |
X | g.32454715C>G | CA412663033 | DMD | n.3757G>C c.3550G>C (p.Asp1184His) c.3538G>C (p.Asp1180His) c.94-89516G>C (n.94-89516G>C) c.94-90005G>C (n.94-90005G>C) n.336-237652G>C c.3526G>C (p.Asp1176His) c.3181G>C (p.Asp1061His) c.3421G>C (p.Asp1141His) | |
X | g.32454715C>T | CA412663035 | DMD | n.3757G>A c.3550G>A (p.Asp1184Asn) c.3538G>A (p.Asp1180Asn) c.94-89516G>A (n.94-89516G>A) c.94-90005G>A (n.94-90005G>A) n.336-237652G>A c.3526G>A (p.Asp1176Asn) c.3181G>A (p.Asp1061Asn) c.3421G>A (p.Asp1141Asn) | |
X | g.32454716T>A | CA412663037 | DMD | n.3756A>T c.3549A>T (p.Arg1183Ser) c.3537A>T (p.Arg1179Ser) c.94-89517A>T (n.94-89517A>T) c.94-90006A>T (n.94-90006A>T) n.336-237653A>T c.3525A>T (p.Arg1175Ser) c.3180A>T (p.Arg1060Ser) c.3420A>T (p.Arg1140Ser) | |
X | g.32454716T>C | CA515715268 | DMD | n.3756A>G c.3549A>G (p.Arg1183=) c.3537A>G (p.Arg1179=) c.94-89517A>G (n.94-89517A>G) c.94-90006A>G (n.94-90006A>G) n.336-237653A>G c.3525A>G (p.Arg1175=) c.3180A>G (p.Arg1060=) c.3420A>G (p.Arg1140=) | gnomAD v4 |
X | g.32454716T>G | CA412663039 | DMD | n.3756A>C c.3549A>C (p.Arg1183Ser) c.3537A>C (p.Arg1179Ser) c.94-89517A>C (n.94-89517A>C) c.94-90006A>C (n.94-90006A>C) n.336-237653A>C c.3525A>C (p.Arg1175Ser) c.3180A>C (p.Arg1060Ser) c.3420A>C (p.Arg1140Ser) | |
X | g.32454717C>A | CA412663042 | DMD | n.3755G>T c.3548G>T (p.Arg1183Ile) c.3536G>T (p.Arg1179Ile) c.94-89518G>T (n.94-89518G>T) c.94-90007G>T (n.94-90007G>T) n.336-237654G>T c.3524G>T (p.Arg1175Ile) c.3179G>T (p.Arg1060Ile) c.3419G>T (p.Arg1140Ile) | dbSNP |
X | g.32454717C= | CA2422811206 | DMD | n.3755G= c.3548G= (p.Arg1183=) c.3536G= (p.Arg1179=) c.94-89518G= (n.94-89518G=) c.94-90007G= (n.94-90007G=) n.336-237654G= c.3524G= (p.Arg1175=) c.3179G= (p.Arg1060=) c.3419G= (p.Arg1140=) | |
X | g.32454717C>G | CA10379249 | DMD | n.3755G>C c.3548G>C (p.Arg1183Thr) c.3536G>C (p.Arg1179Thr) c.94-89518G>C (n.94-89518G>C) c.94-90007G>C (n.94-90007G>C) n.336-237654G>C c.3524G>C (p.Arg1175Thr) c.3179G>C (p.Arg1060Thr) c.3419G>C (p.Arg1140Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454717C>T | CA412663044 | DMD | n.3755G>A c.3548G>A (p.Arg1183Lys) c.3536G>A (p.Arg1179Lys) c.94-89518G>A (n.94-89518G>A) c.94-90007G>A (n.94-90007G>A) n.336-237654G>A c.3524G>A (p.Arg1175Lys) c.3179G>A (p.Arg1060Lys) c.3419G>A (p.Arg1140Lys) | |
X | g.32454718T>A | CA412663045 | DMD | n.3754A>T c.3547A>T (p.Arg1183Ter) c.3535A>T (p.Arg1179Ter) c.94-89519A>T (n.94-89519A>T) c.94-90008A>T (n.94-90008A>T) n.336-237655A>T c.3523A>T (p.Arg1175Ter) c.3178A>T (p.Arg1060Ter) c.3418A>T (p.Arg1140Ter) | |
X | g.32454718T>C | CA412663046 | DMD | n.3754A>G c.3547A>G (p.Arg1183Gly) c.3535A>G (p.Arg1179Gly) c.94-89519A>G (n.94-89519A>G) c.94-90008A>G (n.94-90008A>G) n.336-237655A>G c.3523A>G (p.Arg1175Gly) c.3178A>G (p.Arg1060Gly) c.3418A>G (p.Arg1140Gly) | ClinVar gnomAD v4 |
X | g.32454718T>G | CA515715269 | DMD | n.3754A>C c.3547A>C (p.Arg1183=) c.3535A>C (p.Arg1179=) c.94-89519A>C (n.94-89519A>C) c.94-90008A>C (n.94-90008A>C) n.336-237655A>C c.3523A>C (p.Arg1175=) c.3178A>C (p.Arg1060=) c.3418A>C (p.Arg1140=) | gnomAD v4 |
X | g.32454719C>A | CA412663048 | DMD | n.3753G>T c.3546G>T (p.Glu1182Asp) c.3534G>T (p.Glu1178Asp) c.94-89520G>T (n.94-89520G>T) c.94-90009G>T (n.94-90009G>T) n.336-237656G>T c.3522G>T (p.Glu1174Asp) c.3177G>T (p.Glu1059Asp) c.3417G>T (p.Glu1139Asp) | gnomAD v4 |
X | g.32454719C= | CA2422811207 | DMD | n.3753G= c.3546G= (p.Glu1182=) c.3534G= (p.Glu1178=) c.94-89520G= (n.94-89520G=) c.94-90009G= (n.94-90009G=) n.336-237656G= c.3522G= (p.Glu1174=) c.3177G= (p.Glu1059=) c.3417G= (p.Glu1139=) | |
X | g.32454719C>G | CA412663050 | DMD | n.3753G>C c.3546G>C (p.Glu1182Asp) c.3534G>C (p.Glu1178Asp) c.94-89520G>C (n.94-89520G>C) c.94-90009G>C (n.94-90009G>C) n.336-237656G>C c.3522G>C (p.Glu1174Asp) c.3177G>C (p.Glu1059Asp) c.3417G>C (p.Glu1139Asp) | |
X | g.32454719C>T | CA515715270 | DMD | n.3753G>A c.3546G>A (p.Glu1182=) c.3534G>A (p.Glu1178=) c.94-89520G>A (n.94-89520G>A) c.94-90009G>A (n.94-90009G>A) n.336-237656G>A c.3522G>A (p.Glu1174=) c.3177G>A (p.Glu1059=) c.3417G>A (p.Glu1139=) | ClinVar dbSNP |
X | g.32454720T>A | CA412663055 | DMD | n.3752A>T c.3545A>T (p.Glu1182Val) c.3533A>T (p.Glu1178Val) c.94-89521A>T (n.94-89521A>T) c.94-90010A>T (n.94-90010A>T) n.336-237657A>T c.3521A>T (p.Glu1174Val) c.3176A>T (p.Glu1059Val) c.3416A>T (p.Glu1139Val) | |
X | g.32454720T>C | CA412663057 | DMD | n.3752A>G c.3545A>G (p.Glu1182Gly) c.3533A>G (p.Glu1178Gly) c.94-89521A>G (n.94-89521A>G) c.94-90010A>G (n.94-90010A>G) n.336-237657A>G c.3521A>G (p.Glu1174Gly) c.3176A>G (p.Glu1059Gly) c.3416A>G (p.Glu1139Gly) | |
X | g.32454720T>G | CA412663054 | DMD | n.3752A>C c.3545A>C (p.Glu1182Ala) c.3533A>C (p.Glu1178Ala) c.94-89521A>C (n.94-89521A>C) c.94-90010A>C (n.94-90010A>C) n.336-237657A>C c.3521A>C (p.Glu1174Ala) c.3176A>C (p.Glu1059Ala) c.3416A>C (p.Glu1139Ala) | |
X | g.32454721C>A | CA412663060 | DMD | n.3751G>T c.3544G>T (p.Glu1182Ter) c.3532G>T (p.Glu1178Ter) c.94-89522G>T (n.94-89522G>T) c.94-90011G>T (n.94-90011G>T) n.336-237658G>T c.3520G>T (p.Glu1174Ter) c.3175G>T (p.Glu1059Ter) c.3415G>T (p.Glu1139Ter) | ClinVar dbSNP |
X | g.32454721C>G | CA412663062 | DMD | n.3751G>C c.3544G>C (p.Glu1182Gln) c.3532G>C (p.Glu1178Gln) c.94-89522G>C (n.94-89522G>C) c.94-90011G>C (n.94-90011G>C) n.336-237658G>C c.3520G>C (p.Glu1174Gln) c.3175G>C (p.Glu1059Gln) c.3415G>C (p.Glu1139Gln) | |
X | g.32454721C>T | CA412663064 | DMD | n.3751G>A c.3544G>A (p.Glu1182Lys) c.3532G>A (p.Glu1178Lys) c.94-89522G>A (n.94-89522G>A) c.94-90011G>A (n.94-90011G>A) n.336-237658G>A c.3520G>A (p.Glu1174Lys) c.3175G>A (p.Glu1059Lys) c.3415G>A (p.Glu1139Lys) | |
X | g.32454722A>C | CA515715273 | DMD | n.3750T>G c.3543T>G (p.Leu1181=) c.3531T>G (p.Leu1177=) c.94-89523T>G (n.94-89523T>G) c.94-90012T>G (n.94-90012T>G) n.336-237659T>G c.3519T>G (p.Leu1173=) c.3174T>G (p.Leu1058=) c.3414T>G (p.Leu1138=) | |
X | g.32454722A>G | CA515715272 | DMD | n.3750T>C c.3543T>C (p.Leu1181=) c.3531T>C (p.Leu1177=) c.94-89523T>C (n.94-89523T>C) c.94-90012T>C (n.94-90012T>C) n.336-237659T>C c.3519T>C (p.Leu1173=) c.3174T>C (p.Leu1058=) c.3414T>C (p.Leu1138=) | |
X | g.32454722A>T | CA515715271 | DMD | n.3750T>A c.3543T>A (p.Leu1181=) c.3531T>A (p.Leu1177=) c.94-89523T>A (n.94-89523T>A) c.94-90012T>A (n.94-90012T>A) n.336-237659T>A c.3519T>A (p.Leu1173=) c.3174T>A (p.Leu1058=) c.3414T>A (p.Leu1138=) | |
X | g.32454723A= | CA2422811208 | DMD | n.3749T= c.3542T= (p.Leu1181=) c.3530T= (p.Leu1177=) c.94-89524T= (n.94-89524T=) c.94-90013T= (n.94-90013T=) n.336-237660T= c.3518T= (p.Leu1173=) c.3173T= (p.Leu1058=) c.3413T= (p.Leu1138=) | |
X | g.32454723A>C | CA412663067 | DMD | n.3749T>G c.3542T>G (p.Leu1181Arg) c.3530T>G (p.Leu1177Arg) c.94-89524T>G (n.94-89524T>G) c.94-90013T>G (n.94-90013T>G) n.336-237660T>G c.3518T>G (p.Leu1173Arg) c.3173T>G (p.Leu1058Arg) c.3413T>G (p.Leu1138Arg) | dbSNP |
X | g.32454723A>G | CA412663069 | DMD | n.3749T>C c.3542T>C (p.Leu1181Pro) c.3530T>C (p.Leu1177Pro) c.94-89524T>C (n.94-89524T>C) c.94-90013T>C (n.94-90013T>C) n.336-237660T>C c.3518T>C (p.Leu1173Pro) c.3173T>C (p.Leu1058Pro) c.3413T>C (p.Leu1138Pro) | |
X | g.32454723A>T | CA412663071 | DMD | n.3749T>A c.3542T>A (p.Leu1181His) c.3530T>A (p.Leu1177His) c.94-89524T>A (n.94-89524T>A) c.94-90013T>A (n.94-90013T>A) n.336-237660T>A c.3518T>A (p.Leu1173His) c.3173T>A (p.Leu1058His) c.3413T>A (p.Leu1138His) | |
X | g.32454724G>A | CA10379250 | DMD | n.3748C>T c.3541C>T (p.Leu1181Phe) c.3529C>T (p.Leu1177Phe) c.94-89525C>T (n.94-89525C>T) c.94-90014C>T (n.94-90014C>T) n.336-237661C>T c.3517C>T (p.Leu1173Phe) c.3172C>T (p.Leu1058Phe) c.3412C>T (p.Leu1138Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454724G>C | CA412663077 | DMD | n.3748C>G c.3541C>G (p.Leu1181Val) c.3529C>G (p.Leu1177Val) c.94-89525C>G (n.94-89525C>G) c.94-90014C>G (n.94-90014C>G) n.336-237661C>G c.3517C>G (p.Leu1173Val) c.3172C>G (p.Leu1058Val) c.3412C>G (p.Leu1138Val) | |
X | g.32454724G= | CA2422811209 | DMD | n.3748C= c.3541C= (p.Leu1181=) c.3529C= (p.Leu1177=) c.94-89525C= (n.94-89525C=) c.94-90014C= (n.94-90014C=) n.336-237661C= c.3517C= (p.Leu1173=) c.3172C= (p.Leu1058=) c.3412C= (p.Leu1138=) | |
X | g.32454724G>T | CA412663075 | DMD | n.3748C>A c.3541C>A (p.Leu1181Ile) c.3529C>A (p.Leu1177Ile) c.94-89525C>A (n.94-89525C>A) c.94-90014C>A (n.94-90014C>A) n.336-237661C>A c.3517C>A (p.Leu1173Ile) c.3172C>A (p.Leu1058Ile) c.3412C>A (p.Leu1138Ile) | gnomAD v4 |
X | g.32454725A>C | CA412663080 | DMD | n.3747T>G c.3540T>G (p.Tyr1180Ter) c.3528T>G (p.Tyr1176Ter) c.94-89526T>G (n.94-89526T>G) c.94-90015T>G (n.94-90015T>G) n.336-237662T>G c.3516T>G (p.Tyr1172Ter) c.3171T>G (p.Tyr1057Ter) c.3411T>G (p.Tyr1137Ter) | |
X | g.32454725A>G | CA515715274 | DMD | n.3747T>C c.3540T>C (p.Tyr1180=) c.3528T>C (p.Tyr1176=) c.94-89526T>C (n.94-89526T>C) c.94-90015T>C (n.94-90015T>C) n.336-237662T>C c.3516T>C (p.Tyr1172=) c.3171T>C (p.Tyr1057=) c.3411T>C (p.Tyr1137=) | |
X | g.32454725A>T | CA412663082 | DMD | n.3747T>A c.3540T>A (p.Tyr1180Ter) c.3528T>A (p.Tyr1176Ter) c.94-89526T>A (n.94-89526T>A) c.94-90015T>A (n.94-90015T>A) n.336-237662T>A c.3516T>A (p.Tyr1172Ter) c.3171T>A (p.Tyr1057Ter) c.3411T>A (p.Tyr1137Ter) | COSMIC COSMIC COSMIC |
X | g.32454726T>A | CA412663085 | DMD | n.3746A>T c.3539A>T (p.Tyr1180Phe) c.3527A>T (p.Tyr1176Phe) c.94-89527A>T (n.94-89527A>T) c.94-90016A>T (n.94-90016A>T) n.336-237663A>T c.3515A>T (p.Tyr1172Phe) c.3170A>T (p.Tyr1057Phe) c.3410A>T (p.Tyr1137Phe) | |
X | g.32454726T>C | CA412663086 | DMD | n.3746A>G c.3539A>G (p.Tyr1180Cys) c.3527A>G (p.Tyr1176Cys) c.94-89527A>G (n.94-89527A>G) c.94-90016A>G (n.94-90016A>G) n.336-237663A>G c.3515A>G (p.Tyr1172Cys) c.3170A>G (p.Tyr1057Cys) c.3410A>G (p.Tyr1137Cys) | |
X | g.32454726T>G | CA412663089 | DMD | n.3746A>C c.3539A>C (p.Tyr1180Ser) c.3527A>C (p.Tyr1176Ser) c.94-89527A>C (n.94-89527A>C) c.94-90016A>C (n.94-90016A>C) n.336-237663A>C c.3515A>C (p.Tyr1172Ser) c.3170A>C (p.Tyr1057Ser) c.3410A>C (p.Tyr1137Ser) | |
X | g.32454727_32454735dup | CA2695231953 | DMD | n.3738_3746dup c.3531_3539dup (p.Tyr1180Ter) c.3519_3527dup (p.Tyr1176Ter) c.94-89535_94-89527dup (n.94-89535_94-89527dup) c.94-90024_94-90016dup (n.94-90024_94-90016dup) n.336-237671_336-237663dup c.3507_3515dup (p.Tyr1172Ter) c.3162_3170dup (p.Tyr1057Ter) c.3402_3410dup (p.Tyr1137Ter) | |
X | g.32454727A= | CA2422811210 | DMD | n.3745T= c.3538T= (p.Tyr1180=) c.3526T= (p.Tyr1176=) c.94-89528T= (n.94-89528T=) c.94-90017T= (n.94-90017T=) n.336-237664T= c.3514T= (p.Tyr1172=) c.3169T= (p.Tyr1057=) c.3409T= (p.Tyr1137=) | |
X | g.32454727A>C | CA412663092 | DMD | n.3745T>G c.3538T>G (p.Tyr1180Asp) c.3526T>G (p.Tyr1176Asp) c.94-89528T>G (n.94-89528T>G) c.94-90017T>G (n.94-90017T>G) n.336-237664T>G c.3514T>G (p.Tyr1172Asp) c.3169T>G (p.Tyr1057Asp) c.3409T>G (p.Tyr1137Asp) | |
X | g.32454727A>G | CA412663094 | DMD | n.3745T>C c.3538T>C (p.Tyr1180His) c.3526T>C (p.Tyr1176His) c.94-89528T>C (n.94-89528T>C) c.94-90017T>C (n.94-90017T>C) n.336-237664T>C c.3514T>C (p.Tyr1172His) c.3169T>C (p.Tyr1057His) c.3409T>C (p.Tyr1137His) | |
X | g.32454727A>T | CA10379251 | DMD | n.3745T>A c.3538T>A (p.Tyr1180Asn) c.3526T>A (p.Tyr1176Asn) c.94-89528T>A (n.94-89528T>A) c.94-90017T>A (n.94-90017T>A) n.336-237664T>A c.3514T>A (p.Tyr1172Asn) c.3169T>A (p.Tyr1057Asn) c.3409T>A (p.Tyr1137Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454728C>A | CA412663100 | DMD | n.3744G>T c.3537G>T (p.Glu1179Asp) c.3525G>T (p.Glu1175Asp) c.94-89529G>T (n.94-89529G>T) c.94-90018G>T (n.94-90018G>T) n.336-237665G>T c.3513G>T (p.Glu1171Asp) c.3168G>T (p.Glu1056Asp) c.3408G>T (p.Glu1136Asp) | ClinVar dbSNP gnomAD v4 |
X | g.32454728C= | CA2422811212 | DMD | n.3744G= c.3537G= (p.Glu1179=) c.3525G= (p.Glu1175=) c.94-89529G= (n.94-89529G=) c.94-90018G= (n.94-90018G=) n.336-237665G= c.3513G= (p.Glu1171=) c.3168G= (p.Glu1056=) c.3408G= (p.Glu1136=) | |
X | g.32454728C>G | CA412663097 | DMD | n.3744G>C c.3537G>C (p.Glu1179Asp) c.3525G>C (p.Glu1175Asp) c.94-89529G>C (n.94-89529G>C) c.94-90018G>C (n.94-90018G>C) n.336-237665G>C c.3513G>C (p.Glu1171Asp) c.3168G>C (p.Glu1056Asp) c.3408G>C (p.Glu1136Asp) | |
X | g.32454728C>T | CA515715276 | DMD | n.3744G>A c.3537G>A (p.Glu1179=) c.3525G>A (p.Glu1175=) c.94-89529G>A (n.94-89529G>A) c.94-90018G>A (n.94-90018G>A) n.336-237665G>A c.3513G>A (p.Glu1171=) c.3168G>A (p.Glu1056=) c.3408G>A (p.Glu1136=) | ClinVar dbSNP |
X | g.32454728_32454732delinsCTCTT | CA2422811211 | DMD | n.3740_3744delinsAAGAG c.3533_3537delinsAAGAG (p.Glu1178=) c.3521_3525delinsAAGAG (p.Glu1174=) c.94-89533_94-89529delinsAAGAG (n.94-89533_94-89529delinsAAGAG) c.94-90022_94-90018delinsAAGAG (n.94-90022_94-90018delinsAAGAG) n.336-237669_336-237665delinsAAGAG c.3509_3513delinsAAGAG (p.Glu1170=) c.3164_3168delinsAAGAG (p.Glu1055=) c.3404_3408delinsAAGAG (p.Glu1135=) | |
X | g.32454729T>A | CA412663107 | DMD | n.3743A>T c.3536A>T (p.Glu1179Val) c.3524A>T (p.Glu1175Val) c.94-89530A>T (n.94-89530A>T) c.94-90019A>T (n.94-90019A>T) n.336-237666A>T c.3512A>T (p.Glu1171Val) c.3167A>T (p.Glu1056Val) c.3407A>T (p.Glu1136Val) | |
X | g.32454729T>C | CA412663103 | DMD | n.3743A>G c.3536A>G (p.Glu1179Gly) c.3524A>G (p.Glu1175Gly) c.94-89530A>G (n.94-89530A>G) c.94-90019A>G (n.94-90019A>G) n.336-237666A>G c.3512A>G (p.Glu1171Gly) c.3167A>G (p.Glu1056Gly) c.3407A>G (p.Glu1136Gly) | ClinVar |
X | g.32454729T>G | CA412663105 | DMD | n.3743A>C c.3536A>C (p.Glu1179Ala) c.3524A>C (p.Glu1175Ala) c.94-89530A>C (n.94-89530A>C) c.94-90019A>C (n.94-90019A>C) n.336-237666A>C c.3512A>C (p.Glu1171Ala) c.3167A>C (p.Glu1056Ala) c.3407A>C (p.Glu1136Ala) | |
X | g.32454729_32454732del | CA915950835 | DMD | n.3740_3743del c.3533_3536del (p.Glu1178GlyfsTer22) c.3521_3524del (p.Glu1174GlyfsTer22) c.94-89533_94-89530del (n.94-89533_94-89530del) c.94-90022_94-90019del (n.94-90022_94-90019del) n.336-237669_336-237666del c.3509_3512del (p.Glu1170GlyfsTer22) c.3164_3167del (p.Glu1055GlyfsTer22) c.3404_3407del (p.Glu1135GlyfsTer22) | ClinVar dbSNP |
X | g.32454734_32454736del | CA2820327611 | DMD | n.3741_3743del c.3534_3536del (p.Glu1179del) c.3522_3524del (p.Glu1175del) c.94-89532_94-89530del (n.94-89532_94-89530del) c.94-90021_94-90019del (n.94-90021_94-90019del) n.336-237668_336-237666del c.3510_3512del (p.Glu1171del) c.3165_3167del (p.Glu1056del) c.3405_3407del (p.Glu1136del) | |
X | g.32454730C>A | CA275141 | DMD | n.3742G>T c.3535G>T (p.Glu1179Ter) c.3523G>T (p.Glu1175Ter) c.94-89531G>T (n.94-89531G>T) c.94-90020G>T (n.94-90020G>T) n.336-237667G>T c.3511G>T (p.Glu1171Ter) c.3166G>T (p.Glu1056Ter) c.3406G>T (p.Glu1136Ter) | ClinVar dbSNP |
X | g.32454730C= | CA2422811213 | DMD | n.3742G= c.3535G= (p.Glu1179=) c.3523G= (p.Glu1175=) c.94-89531G= (n.94-89531G=) c.94-90020G= (n.94-90020G=) n.336-237667G= c.3511G= (p.Glu1171=) c.3166G= (p.Glu1056=) c.3406G= (p.Glu1136=) | |
X | g.32454730C>G | CA412663110 | DMD | n.3742G>C c.3535G>C (p.Glu1179Gln) c.3523G>C (p.Glu1175Gln) c.94-89531G>C (n.94-89531G>C) c.94-90020G>C (n.94-90020G>C) n.336-237667G>C c.3511G>C (p.Glu1171Gln) c.3166G>C (p.Glu1056Gln) c.3406G>C (p.Glu1136Gln) | |
X | g.32454730C>T | CA412663112 | DMD | n.3742G>A c.3535G>A (p.Glu1179Lys) c.3523G>A (p.Glu1175Lys) c.94-89531G>A (n.94-89531G>A) c.94-90020G>A (n.94-90020G>A) n.336-237667G>A c.3511G>A (p.Glu1171Lys) c.3166G>A (p.Glu1056Lys) c.3406G>A (p.Glu1136Lys) | dbSNP |
X | g.32454731T>A | CA412663115 | DMD | n.3741A>T c.3534A>T (p.Glu1178Asp) c.3522A>T (p.Glu1174Asp) c.94-89532A>T (n.94-89532A>T) c.94-90021A>T (n.94-90021A>T) n.336-237668A>T c.3510A>T (p.Glu1170Asp) c.3165A>T (p.Glu1055Asp) c.3405A>T (p.Glu1135Asp) | |
X | g.32454731T>C | CA327997002 | DMD | n.3741A>G c.3534A>G (p.Glu1178=) c.3522A>G (p.Glu1174=) c.94-89532A>G (n.94-89532A>G) c.94-90021A>G (n.94-90021A>G) n.336-237668A>G c.3510A>G (p.Glu1170=) c.3165A>G (p.Glu1055=) c.3405A>G (p.Glu1135=) | ClinVar dbSNP |
X | g.32454731T>G | CA412663117 | DMD | n.3741A>C c.3534A>C (p.Glu1178Asp) c.3522A>C (p.Glu1174Asp) c.94-89532A>C (n.94-89532A>C) c.94-90021A>C (n.94-90021A>C) n.336-237668A>C c.3510A>C (p.Glu1170Asp) c.3165A>C (p.Glu1055Asp) c.3405A>C (p.Glu1135Asp) | |
X | g.32454731T= | CA2422811214 | DMD | n.3741A= c.3534A= (p.Glu1178=) c.3522A= (p.Glu1174=) c.94-89532A= (n.94-89532A=) c.94-90021A= (n.94-90021A=) n.336-237668A= c.3510A= (p.Glu1170=) c.3165A= (p.Glu1055=) c.3405A= (p.Glu1135=) | |
X | g.32454732T>A | CA412663118 | DMD | n.3740A>T c.3533A>T (p.Glu1178Val) c.3521A>T (p.Glu1174Val) c.94-89533A>T (n.94-89533A>T) c.94-90022A>T (n.94-90022A>T) n.336-237669A>T c.3509A>T (p.Glu1170Val) c.3164A>T (p.Glu1055Val) c.3404A>T (p.Glu1135Val) | |
X | g.32454732T>C | CA412663120 | DMD | n.3740A>G c.3533A>G (p.Glu1178Gly) c.3521A>G (p.Glu1174Gly) c.94-89533A>G (n.94-89533A>G) c.94-90022A>G (n.94-90022A>G) n.336-237669A>G c.3509A>G (p.Glu1170Gly) c.3164A>G (p.Glu1055Gly) c.3404A>G (p.Glu1135Gly) | gnomAD v4 |
X | g.32454732T>G | CA412663122 | DMD | n.3740A>C c.3533A>C (p.Glu1178Ala) c.3521A>C (p.Glu1174Ala) c.94-89533A>C (n.94-89533A>C) c.94-90022A>C (n.94-90022A>C) n.336-237669A>C c.3509A>C (p.Glu1170Ala) c.3164A>C (p.Glu1055Ala) c.3404A>C (p.Glu1135Ala) | dbSNP |
X | g.32454732T= | CA2422811215 | DMD | n.3740A= c.3533A= (p.Glu1178=) c.3521A= (p.Glu1174=) c.94-89533A= (n.94-89533A=) c.94-90022A= (n.94-90022A=) n.336-237669A= c.3509A= (p.Glu1170=) c.3164A= (p.Glu1055=) c.3404A= (p.Glu1135=) | |
X | g.32454733C>A | CA273307 | DMD | n.3739G>T c.3532G>T (p.Glu1178Ter) c.3520G>T (p.Glu1174Ter) c.94-89534G>T (n.94-89534G>T) c.94-90023G>T (n.94-90023G>T) n.336-237670G>T c.3508G>T (p.Glu1170Ter) c.3163G>T (p.Glu1055Ter) c.3403G>T (p.Glu1135Ter) | ClinVar dbSNP |
X | g.32454733C= | CA2422811216 | DMD | n.3739G= c.3532G= (p.Glu1178=) c.3520G= (p.Glu1174=) c.94-89534G= (n.94-89534G=) c.94-90023G= (n.94-90023G=) n.336-237670G= c.3508G= (p.Glu1170=) c.3163G= (p.Glu1055=) c.3403G= (p.Glu1135=) | |
X | g.32454733C>G | CA412663128 | DMD | n.3739G>C c.3532G>C (p.Glu1178Gln) c.3520G>C (p.Glu1174Gln) c.94-89534G>C (n.94-89534G>C) c.94-90023G>C (n.94-90023G>C) n.336-237670G>C c.3508G>C (p.Glu1170Gln) c.3163G>C (p.Glu1055Gln) c.3403G>C (p.Glu1135Gln) | |
X | g.32454733C>T | CA412663125 | DMD | n.3739G>A c.3532G>A (p.Glu1178Lys) c.3520G>A (p.Glu1174Lys) c.94-89534G>A (n.94-89534G>A) c.94-90023G>A (n.94-90023G>A) n.336-237670G>A c.3508G>A (p.Glu1170Lys) c.3163G>A (p.Glu1055Lys) c.3403G>A (p.Glu1135Lys) | gnomAD v4 |
X | g.32454734T>A | CA412663130 | DMD | n.3738A>T c.3531A>T (p.Glu1177Asp) c.3519A>T (p.Glu1173Asp) c.94-89535A>T (n.94-89535A>T) c.94-90024A>T (n.94-90024A>T) n.336-237671A>T c.3507A>T (p.Glu1169Asp) c.3162A>T (p.Glu1054Asp) c.3402A>T (p.Glu1134Asp) | |
X | g.32454734T>C | CA10379252 | DMD | n.3738A>G c.3531A>G (p.Glu1177=) c.3519A>G (p.Glu1173=) c.94-89535A>G (n.94-89535A>G) c.94-90024A>G (n.94-90024A>G) n.336-237671A>G c.3507A>G (p.Glu1169=) c.3162A>G (p.Glu1054=) c.3402A>G (p.Glu1134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32454734T>G | CA412663134 | DMD | n.3738A>C c.3531A>C (p.Glu1177Asp) c.3519A>C (p.Glu1173Asp) c.94-89535A>C (n.94-89535A>C) c.94-90024A>C (n.94-90024A>C) n.336-237671A>C c.3507A>C (p.Glu1169Asp) c.3162A>C (p.Glu1054Asp) c.3402A>C (p.Glu1134Asp) | |
X | g.32454734T= | CA2422811217 | DMD | n.3738A= c.3531A= (p.Glu1177=) c.3519A= (p.Glu1173=) c.94-89535A= (n.94-89535A=) c.94-90024A= (n.94-90024A=) n.336-237671A= c.3507A= (p.Glu1169=) c.3162A= (p.Glu1054=) c.3402A= (p.Glu1134=) | |
X | g.32454735T>A | CA412663136 | DMD | n.3737A>T c.3530A>T (p.Glu1177Val) c.3518A>T (p.Glu1173Val) c.94-89536A>T (n.94-89536A>T) c.94-90025A>T (n.94-90025A>T) n.336-237672A>T c.3506A>T (p.Glu1169Val) c.3161A>T (p.Glu1054Val) c.3401A>T (p.Glu1134Val) | gnomAD v4 |
X | g.32454735T>C | CA412663139 | DMD | n.3737A>G c.3530A>G (p.Glu1177Gly) c.3518A>G (p.Glu1173Gly) c.94-89536A>G (n.94-89536A>G) c.94-90025A>G (n.94-90025A>G) n.336-237672A>G c.3506A>G (p.Glu1169Gly) c.3161A>G (p.Glu1054Gly) c.3401A>G (p.Glu1134Gly) | |
X | g.32454735T>G | CA412663140 | DMD | n.3737A>C c.3530A>C (p.Glu1177Ala) c.3518A>C (p.Glu1173Ala) c.94-89536A>C (n.94-89536A>C) c.94-90025A>C (n.94-90025A>C) n.336-237672A>C c.3506A>C (p.Glu1169Ala) c.3161A>C (p.Glu1054Ala) c.3401A>C (p.Glu1134Ala) | |
X | g.32454736C>A | CA412663143 | DMD | n.3736G>T c.3529G>T (p.Glu1177Ter) c.3517G>T (p.Glu1173Ter) c.94-89537G>T (n.94-89537G>T) c.94-90026G>T (n.94-90026G>T) n.336-237673G>T c.3505G>T (p.Glu1169Ter) c.3160G>T (p.Glu1054Ter) c.3400G>T (p.Glu1134Ter) | |
X | g.32454736C>G | CA412663145 | DMD | n.3736G>C c.3529G>C (p.Glu1177Gln) c.3517G>C (p.Glu1173Gln) c.94-89537G>C (n.94-89537G>C) c.94-90026G>C (n.94-90026G>C) n.336-237673G>C c.3505G>C (p.Glu1169Gln) c.3160G>C (p.Glu1054Gln) c.3400G>C (p.Glu1134Gln) | |
X | g.32454736C>T | CA412663146 | DMD | n.3736G>A c.3529G>A (p.Glu1177Lys) c.3517G>A (p.Glu1173Lys) c.94-89537G>A (n.94-89537G>A) c.94-90026G>A (n.94-90026G>A) n.336-237673G>A c.3505G>A (p.Glu1169Lys) c.3160G>A (p.Glu1054Lys) c.3400G>A (p.Glu1134Lys) | |
X | g.32454737A>C | CA515715284 | DMD | n.3735T>G c.3528T>G (p.Ala1176=) c.3516T>G (p.Ala1172=) c.94-89538T>G (n.94-89538T>G) c.94-90027T>G (n.94-90027T>G) n.336-237674T>G c.3504T>G (p.Ala1168=) c.3159T>G (p.Ala1053=) c.3399T>G (p.Ala1133=) | |
X | g.32454737A>G | CA515715285 | DMD | n.3735T>C c.3528T>C (p.Ala1176=) c.3516T>C (p.Ala1172=) c.94-89538T>C (n.94-89538T>C) c.94-90027T>C (n.94-90027T>C) n.336-237674T>C c.3504T>C (p.Ala1168=) c.3159T>C (p.Ala1053=) c.3399T>C (p.Ala1133=) | gnomAD v4 |
X | g.32454737A>T | CA515715286 | DMD | n.3735T>A c.3528T>A (p.Ala1176=) c.3516T>A (p.Ala1172=) c.94-89538T>A (n.94-89538T>A) c.94-90027T>A (n.94-90027T>A) n.336-237674T>A c.3504T>A (p.Ala1168=) c.3159T>A (p.Ala1053=) c.3399T>A (p.Ala1133=) | |
X | g.32454738G>A | CA412663149 | DMD | n.3734C>T c.3527C>T (p.Ala1176Val) c.3515C>T (p.Ala1172Val) c.94-89539C>T (n.94-89539C>T) c.94-90028C>T (n.94-90028C>T) n.336-237675C>T c.3503C>T (p.Ala1168Val) c.3158C>T (p.Ala1053Val) c.3398C>T (p.Ala1133Val) | |
X | g.32454738G>C | CA412663150 | DMD | n.3734C>G c.3527C>G (p.Ala1176Gly) c.3515C>G (p.Ala1172Gly) c.94-89539C>G (n.94-89539C>G) c.94-90028C>G (n.94-90028C>G) n.336-237675C>G c.3503C>G (p.Ala1168Gly) c.3158C>G (p.Ala1053Gly) c.3398C>G (p.Ala1133Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.32454738G= | CA2422811218 | DMD | n.3734C= c.3527C= (p.Ala1176=) c.3515C= (p.Ala1172=) c.94-89539C= (n.94-89539C=) c.94-90028C= (n.94-90028C=) n.336-237675C= c.3503C= (p.Ala1168=) c.3158C= (p.Ala1053=) c.3398C= (p.Ala1133=) | |
X | g.32454738G>T | CA412663153 | DMD | n.3734C>A c.3527C>A (p.Ala1176Asp) c.3515C>A (p.Ala1172Asp) c.94-89539C>A (n.94-89539C>A) c.94-90028C>A (n.94-90028C>A) n.336-237675C>A c.3503C>A (p.Ala1168Asp) c.3158C>A (p.Ala1053Asp) c.3398C>A (p.Ala1133Asp) | ClinVar dbSNP |
X | g.32454739C>A | CA412663159 | DMD | n.3733G>T c.3526G>T (p.Ala1176Ser) c.3514G>T (p.Ala1172Ser) c.94-89540G>T (n.94-89540G>T) c.94-90029G>T (n.94-90029G>T) n.336-237676G>T c.3502G>T (p.Ala1168Ser) c.3157G>T (p.Ala1053Ser) c.3397G>T (p.Ala1133Ser) | |
X | g.32454739C>G | CA412663161 | DMD | n.3733G>C c.3526G>C (p.Ala1176Pro) c.3514G>C (p.Ala1172Pro) c.94-89540G>C (n.94-89540G>C) c.94-90029G>C (n.94-90029G>C) n.336-237676G>C c.3502G>C (p.Ala1168Pro) c.3157G>C (p.Ala1053Pro) c.3397G>C (p.Ala1133Pro) | |
X | g.32454739C>T | CA412663157 | DMD | n.3733G>A c.3526G>A (p.Ala1176Thr) c.3514G>A (p.Ala1172Thr) c.94-89540G>A (n.94-89540G>A) c.94-90029G>A (n.94-90029G>A) n.336-237676G>A c.3502G>A (p.Ala1168Thr) c.3157G>A (p.Ala1053Thr) c.3397G>A (p.Ala1133Thr) | |
X | g.32454740T>A | CA412663164 | DMD | n.3732A>T c.3525A>T (p.Gln1175His) c.3513A>T (p.Gln1171His) c.94-89541A>T (n.94-89541A>T) c.94-90030A>T (n.94-90030A>T) n.336-237677A>T c.3501A>T (p.Gln1167His) c.3156A>T (p.Gln1052His) c.3396A>T (p.Gln1132His) | gnomAD v4 |
X | g.32454740T>C | CA515715288 | DMD | n.3732A>G c.3525A>G (p.Gln1175=) c.3513A>G (p.Gln1171=) c.94-89541A>G (n.94-89541A>G) c.94-90030A>G (n.94-90030A>G) n.336-237677A>G c.3501A>G (p.Gln1167=) c.3156A>G (p.Gln1052=) c.3396A>G (p.Gln1132=) | |
X | g.32454740T>G | CA412663166 | DMD | n.3732A>C c.3525A>C (p.Gln1175His) c.3513A>C (p.Gln1171His) c.94-89541A>C (n.94-89541A>C) c.94-90030A>C (n.94-90030A>C) n.336-237677A>C c.3501A>C (p.Gln1167His) c.3156A>C (p.Gln1052His) c.3396A>C (p.Gln1132His) | |
X | g.32454741T>A | CA412663169 | DMD | n.3731A>T c.3524A>T (p.Gln1175Leu) c.3512A>T (p.Gln1171Leu) c.94-89542A>T (n.94-89542A>T) c.94-90031A>T (n.94-90031A>T) n.336-237678A>T c.3500A>T (p.Gln1167Leu) c.3155A>T (p.Gln1052Leu) c.3395A>T (p.Gln1132Leu) | |
X | g.32454741T>C | CA412663171 | DMD | n.3731A>G c.3524A>G (p.Gln1175Arg) c.3512A>G (p.Gln1171Arg) c.94-89542A>G (n.94-89542A>G) c.94-90031A>G (n.94-90031A>G) n.336-237678A>G c.3500A>G (p.Gln1167Arg) c.3155A>G (p.Gln1052Arg) c.3395A>G (p.Gln1132Arg) | |
X | g.32454741T>G | CA412663173 | DMD | n.3731A>C c.3524A>C (p.Gln1175Pro) c.3512A>C (p.Gln1171Pro) c.94-89542A>C (n.94-89542A>C) c.94-90031A>C (n.94-90031A>C) n.336-237678A>C c.3500A>C (p.Gln1167Pro) c.3155A>C (p.Gln1052Pro) c.3395A>C (p.Gln1132Pro) | |
X | g.32454742del | CA2507591474 | DMD | n.3730del c.3523del (p.Gln1175LysfsTer26) c.3511del (p.Gln1171LysfsTer26) c.94-89543del (n.94-89543del) c.94-90032del (n.94-90032del) n.336-237679del c.3499del (p.Gln1167LysfsTer26) c.3154del (p.Gln1052LysfsTer26) c.3394del (p.Gln1132LysfsTer26) | |
X | g.32454742G>A | CA412663180 | DMD | n.3730C>T c.3523C>T (p.Gln1175Ter) c.3511C>T (p.Gln1171Ter) c.94-89543C>T (n.94-89543C>T) c.94-90032C>T (n.94-90032C>T) n.336-237679C>T c.3499C>T (p.Gln1167Ter) c.3154C>T (p.Gln1052Ter) c.3394C>T (p.Gln1132Ter) | ClinVar |
X | g.32454742G>C | CA412663178 | DMD | n.3730C>G c.3523C>G (p.Gln1175Glu) c.3511C>G (p.Gln1171Glu) c.94-89543C>G (n.94-89543C>G) c.94-90032C>G (n.94-90032C>G) n.336-237679C>G c.3499C>G (p.Gln1167Glu) c.3154C>G (p.Gln1052Glu) c.3394C>G (p.Gln1132Glu) | |
X | g.32454742G>T | CA412663176 | DMD | n.3730C>A c.3523C>A (p.Gln1175Lys) c.3511C>A (p.Gln1171Lys) c.94-89543C>A (n.94-89543C>A) c.94-90032C>A (n.94-90032C>A) n.336-237679C>A c.3499C>A (p.Gln1167Lys) c.3154C>A (p.Gln1052Lys) c.3394C>A (p.Gln1132Lys) | |
X | g.32454743T>A | CA515715291 | DMD | n.3729A>T c.3522A>T (p.Thr1174=) c.3510A>T (p.Thr1170=) c.94-89544A>T (n.94-89544A>T) c.94-90033A>T (n.94-90033A>T) n.336-237680A>T c.3498A>T (p.Thr1166=) c.3153A>T (p.Thr1051=) c.3393A>T (p.Thr1131=) | |
X | g.32454743T>C | CA515715292 | DMD | n.3729A>G c.3522A>G (p.Thr1174=) c.3510A>G (p.Thr1170=) c.94-89544A>G (n.94-89544A>G) c.94-90033A>G (n.94-90033A>G) n.336-237680A>G c.3498A>G (p.Thr1166=) c.3153A>G (p.Thr1051=) c.3393A>G (p.Thr1131=) | ClinVar |
X | g.32454743T>G | CA515715293 | DMD | n.3729A>C c.3522A>C (p.Thr1174=) c.3510A>C (p.Thr1170=) c.94-89544A>C (n.94-89544A>C) c.94-90033A>C (n.94-90033A>C) n.336-237680A>C c.3498A>C (p.Thr1166=) c.3153A>C (p.Thr1051=) c.3393A>C (p.Thr1131=) | |
X | g.32454744G>A | CA412663183 | DMD | n.3728C>T c.3521C>T (p.Thr1174Ile) c.3509C>T (p.Thr1170Ile) c.94-89545C>T (n.94-89545C>T) c.94-90034C>T (n.94-90034C>T) n.336-237681C>T c.3497C>T (p.Thr1166Ile) c.3152C>T (p.Thr1051Ile) c.3392C>T (p.Thr1131Ile) | dbSNP |
X | g.32454744G>C | CA412663185 | DMD | n.3728C>G c.3521C>G (p.Thr1174Arg) c.3509C>G (p.Thr1170Arg) c.94-89545C>G (n.94-89545C>G) c.94-90034C>G (n.94-90034C>G) n.336-237681C>G c.3497C>G (p.Thr1166Arg) c.3152C>G (p.Thr1051Arg) c.3392C>G (p.Thr1131Arg) | |
X | g.32454744G= | CA2422811219 | DMD | n.3728C= c.3521C= (p.Thr1174=) c.3509C= (p.Thr1170=) c.94-89545C= (n.94-89545C=) c.94-90034C= (n.94-90034C=) n.336-237681C= c.3497C= (p.Thr1166=) c.3152C= (p.Thr1051=) c.3392C= (p.Thr1131=) | |
X | g.32454744G>T | CA412663187 | DMD | n.3728C>A c.3521C>A (p.Thr1174Lys) c.3509C>A (p.Thr1170Lys) c.94-89545C>A (n.94-89545C>A) c.94-90034C>A (n.94-90034C>A) n.336-237681C>A c.3497C>A (p.Thr1166Lys) c.3152C>A (p.Thr1051Lys) c.3392C>A (p.Thr1131Lys) | |
X | g.32454745T>A | CA412663190 | DMD | n.3727A>T c.3520A>T (p.Thr1174Ser) c.3508A>T (p.Thr1170Ser) c.94-89546A>T (n.94-89546A>T) c.94-90035A>T (n.94-90035A>T) n.336-237682A>T c.3496A>T (p.Thr1166Ser) c.3151A>T (p.Thr1051Ser) c.3391A>T (p.Thr1131Ser) | |
X | g.32454745T>C | CA412663192 | DMD | n.3727A>G c.3520A>G (p.Thr1174Ala) c.3508A>G (p.Thr1170Ala) c.94-89546A>G (n.94-89546A>G) c.94-90035A>G (n.94-90035A>G) n.336-237682A>G c.3496A>G (p.Thr1166Ala) c.3151A>G (p.Thr1051Ala) c.3391A>G (p.Thr1131Ala) | gnomAD v4 |
X | g.32454745T>G | CA412663194 | DMD | n.3727A>C c.3520A>C (p.Thr1174Pro) c.3508A>C (p.Thr1170Pro) c.94-89546A>C (n.94-89546A>C) c.94-90035A>C (n.94-90035A>C) n.336-237682A>C c.3496A>C (p.Thr1166Pro) c.3151A>C (p.Thr1051Pro) c.3391A>C (p.Thr1131Pro) | |
X | g.32454746C>A | CA412663197 | DMD | n.3726G>T c.3519G>T (p.Met1173Ile) c.3507G>T (p.Met1169Ile) c.94-89547G>T (n.94-89547G>T) c.94-90036G>T (n.94-90036G>T) n.336-237683G>T c.3495G>T (p.Met1165Ile) c.3150G>T (p.Met1050Ile) c.3390G>T (p.Met1130Ile) | ClinVar dbSNP gnomAD v4 |
X | g.32454746C>G | CA412663201 | DMD | n.3726G>C c.3519G>C (p.Met1173Ile) c.3507G>C (p.Met1169Ile) c.94-89547G>C (n.94-89547G>C) c.94-90036G>C (n.94-90036G>C) n.336-237683G>C c.3495G>C (p.Met1165Ile) c.3150G>C (p.Met1050Ile) c.3390G>C (p.Met1130Ile) | |
X | g.32454746C>T | CA412663199 | DMD | n.3726G>A c.3519G>A (p.Met1173Ile) c.3507G>A (p.Met1169Ile) c.94-89547G>A (n.94-89547G>A) c.94-90036G>A (n.94-90036G>A) n.336-237683G>A c.3495G>A (p.Met1165Ile) c.3150G>A (p.Met1050Ile) c.3390G>A (p.Met1130Ile) | |
X | g.32454746_32454750dup | CA2573158578 | DMD | n.3722_3726dup c.3515_3519dup (p.Thr1174GlyfsTer2) c.3503_3507dup (p.Thr1170GlyfsTer2) c.94-89551_94-89547dup (n.94-89551_94-89547dup) c.94-90040_94-90036dup (n.94-90040_94-90036dup) n.336-237687_336-237683dup c.3491_3495dup (p.Thr1166GlyfsTer2) c.3146_3150dup (p.Thr1051GlyfsTer2) c.3386_3390dup (p.Thr1131GlyfsTer2) | ClinVar dbSNP |
X | g.32454747A>C | CA412663204 | DMD | n.3725T>G c.3518T>G (p.Met1173Arg) c.3506T>G (p.Met1169Arg) c.94-89548T>G (n.94-89548T>G) c.94-90037T>G (n.94-90037T>G) n.336-237684T>G c.3494T>G (p.Met1165Arg) c.3149T>G (p.Met1050Arg) c.3389T>G (p.Met1130Arg) | |
X | g.32454747A>G | CA412663206 | DMD | n.3725T>C c.3518T>C (p.Met1173Thr) c.3506T>C (p.Met1169Thr) c.94-89548T>C (n.94-89548T>C) c.94-90037T>C (n.94-90037T>C) n.336-237684T>C c.3494T>C (p.Met1165Thr) c.3149T>C (p.Met1050Thr) c.3389T>C (p.Met1130Thr) | |
X | g.32454747A>T | CA412663208 | DMD | n.3725T>A c.3518T>A (p.Met1173Lys) c.3506T>A (p.Met1169Lys) c.94-89548T>A (n.94-89548T>A) c.94-90037T>A (n.94-90037T>A) n.336-237684T>A c.3494T>A (p.Met1165Lys) c.3149T>A (p.Met1050Lys) c.3389T>A (p.Met1130Lys) | gnomAD v4 |
X | g.32454748T>A | CA412663211 | DMD | n.3724A>T c.3517A>T (p.Met1173Leu) c.3505A>T (p.Met1169Leu) c.94-89549A>T (n.94-89549A>T) c.94-90038A>T (n.94-90038A>T) n.336-237685A>T c.3493A>T (p.Met1165Leu) c.3148A>T (p.Met1050Leu) c.3388A>T (p.Met1130Leu) | |
X | g.32454748T>C | CA412663213 | DMD | n.3724A>G c.3517A>G (p.Met1173Val) c.3505A>G (p.Met1169Val) c.94-89549A>G (n.94-89549A>G) c.94-90038A>G (n.94-90038A>G) n.336-237685A>G c.3493A>G (p.Met1165Val) c.3148A>G (p.Met1050Val) c.3388A>G (p.Met1130Val) | |
X | g.32454748T>G | CA412663215 | DMD | n.3724A>C c.3517A>C (p.Met1173Leu) c.3505A>C (p.Met1169Leu) c.94-89549A>C (n.94-89549A>C) c.94-90038A>C (n.94-90038A>C) n.336-237685A>C c.3493A>C (p.Met1165Leu) c.3148A>C (p.Met1050Leu) c.3388A>C (p.Met1130Leu) | |
X | g.32454749C>A | CA327997017 | DMD | n.3723G>T c.3516G>T (p.Trp1172Cys) c.3504G>T (p.Trp1168Cys) c.94-89550G>T (n.94-89550G>T) c.94-90039G>T (n.94-90039G>T) n.336-237686G>T c.3492G>T (p.Trp1164Cys) c.3147G>T (p.Trp1049Cys) c.3387G>T (p.Trp1129Cys) | dbSNP |
X | g.32454749C= | CA2422811220 | DMD | n.3723G= c.3516G= (p.Trp1172=) c.3504G= (p.Trp1168=) c.94-89550G= (n.94-89550G=) c.94-90039G= (n.94-90039G=) n.336-237686G= c.3492G= (p.Trp1164=) c.3147G= (p.Trp1049=) c.3387G= (p.Trp1129=) | |
X | g.32454749C>G | CA412663220 | DMD | n.3723G>C c.3516G>C (p.Trp1172Cys) c.3504G>C (p.Trp1168Cys) c.94-89550G>C (n.94-89550G>C) c.94-90039G>C (n.94-90039G>C) n.336-237686G>C c.3492G>C (p.Trp1164Cys) c.3147G>C (p.Trp1049Cys) c.3387G>C (p.Trp1129Cys) | |
X | g.32454749C>T | CA412663222 | DMD | n.3723G>A c.3516G>A (p.Trp1172Ter) c.3504G>A (p.Trp1168Ter) c.94-89550G>A (n.94-89550G>A) c.94-90039G>A (n.94-90039G>A) n.336-237686G>A c.3492G>A (p.Trp1164Ter) c.3147G>A (p.Trp1049Ter) c.3387G>A (p.Trp1129Ter) | ClinVar dbSNP |
X | g.32454750C>A | CA412663225 | DMD | n.3722G>T c.3515G>T (p.Trp1172Leu) c.3503G>T (p.Trp1168Leu) c.94-89551G>T (n.94-89551G>T) c.94-90040G>T (n.94-90040G>T) n.336-237687G>T c.3491G>T (p.Trp1164Leu) c.3146G>T (p.Trp1049Leu) c.3386G>T (p.Trp1129Leu) | gnomAD v3 gnomAD v4 |
X | g.32454750C>G | CA412663227 | DMD | n.3722G>C c.3515G>C (p.Trp1172Ser) c.3503G>C (p.Trp1168Ser) c.94-89551G>C (n.94-89551G>C) c.94-90040G>C (n.94-90040G>C) n.336-237687G>C c.3491G>C (p.Trp1164Ser) c.3146G>C (p.Trp1049Ser) c.3386G>C (p.Trp1129Ser) | |
X | g.32454750C>T | CA412663229 | DMD | n.3722G>A c.3515G>A (p.Trp1172Ter) c.3503G>A (p.Trp1168Ter) c.94-89551G>A (n.94-89551G>A) c.94-90040G>A (n.94-90040G>A) n.336-237687G>A c.3491G>A (p.Trp1164Ter) c.3146G>A (p.Trp1049Ter) c.3386G>A (p.Trp1129Ter) | dbSNP COSMIC COSMIC COSMIC |
X | g.32454751A>C | CA412663231 | DMD | n.3721T>G c.3514T>G (p.Trp1172Gly) c.3502T>G (p.Trp1168Gly) c.94-89552T>G (n.94-89552T>G) c.94-90041T>G (n.94-90041T>G) n.336-237688T>G c.3490T>G (p.Trp1164Gly) c.3145T>G (p.Trp1049Gly) c.3385T>G (p.Trp1129Gly) | |
X | g.32454751A>G | CA412663232 | DMD | n.3721T>C c.3514T>C (p.Trp1172Arg) c.3502T>C (p.Trp1168Arg) c.94-89552T>C (n.94-89552T>C) c.94-90041T>C (n.94-90041T>C) n.336-237688T>C c.3490T>C (p.Trp1164Arg) c.3145T>C (p.Trp1049Arg) c.3385T>C (p.Trp1129Arg) | |
X | g.32454751A>T | CA412663230 | DMD | n.3721T>A c.3514T>A (p.Trp1172Arg) c.3502T>A (p.Trp1168Arg) c.94-89552T>A (n.94-89552T>A) c.94-90041T>A (n.94-90041T>A) n.336-237688T>A c.3490T>A (p.Trp1164Arg) c.3145T>A (p.Trp1049Arg) c.3385T>A (p.Trp1129Arg) | |
X | g.32454752T>A | CA412663234 | DMD | n.3720A>T c.3513A>T (p.Glu1171Asp) c.3501A>T (p.Glu1167Asp) c.94-89553A>T (n.94-89553A>T) c.94-90042A>T (n.94-90042A>T) n.336-237689A>T c.3489A>T (p.Glu1163Asp) c.3144A>T (p.Glu1048Asp) c.3384A>T (p.Glu1128Asp) | |
X | g.32454752T>C | CA327997021 | DMD | n.3720A>G c.3513A>G (p.Glu1171=) c.3501A>G (p.Glu1167=) c.94-89553A>G (n.94-89553A>G) c.94-90042A>G (n.94-90042A>G) n.336-237689A>G c.3489A>G (p.Glu1163=) c.3144A>G (p.Glu1048=) c.3384A>G (p.Glu1128=) | ClinVar dbSNP gnomAD v4 |
X | g.32454752T>G | CA412663233 | DMD | n.3720A>C c.3513A>C (p.Glu1171Asp) c.3501A>C (p.Glu1167Asp) c.94-89553A>C (n.94-89553A>C) c.94-90042A>C (n.94-90042A>C) n.336-237689A>C c.3489A>C (p.Glu1163Asp) c.3144A>C (p.Glu1048Asp) c.3384A>C (p.Glu1128Asp) | |
X | g.32454752T= | CA2422811221 | DMD | n.3720A= c.3513A= (p.Glu1171=) c.3501A= (p.Glu1167=) c.94-89553A= (n.94-89553A=) c.94-90042A= (n.94-90042A=) n.336-237689A= c.3489A= (p.Glu1163=) c.3144A= (p.Glu1048=) c.3384A= (p.Glu1128=) | |
X | g.32454753T>A | CA412663235 | DMD | n.3719A>T c.3512A>T (p.Glu1171Val) c.3500A>T (p.Glu1167Val) c.94-89554A>T (n.94-89554A>T) c.94-90043A>T (n.94-90043A>T) n.336-237690A>T c.3488A>T (p.Glu1163Val) c.3143A>T (p.Glu1048Val) c.3383A>T (p.Glu1128Val) | |
X | g.32454753T>C | CA412663236 | DMD | n.3719A>G c.3512A>G (p.Glu1171Gly) c.3500A>G (p.Glu1167Gly) c.94-89554A>G (n.94-89554A>G) c.94-90043A>G (n.94-90043A>G) n.336-237690A>G c.3488A>G (p.Glu1163Gly) c.3143A>G (p.Glu1048Gly) c.3383A>G (p.Glu1128Gly) | |
X | g.32454753T>G | CA412663237 | DMD | n.3719A>C c.3512A>C (p.Glu1171Ala) c.3500A>C (p.Glu1167Ala) c.94-89554A>C (n.94-89554A>C) c.94-90043A>C (n.94-90043A>C) n.336-237690A>C c.3488A>C (p.Glu1163Ala) c.3143A>C (p.Glu1048Ala) c.3383A>C (p.Glu1128Ala) | ClinVar dbSNP gnomAD v4 |
X | g.32454753T= | CA2422811222 | DMD | n.3719A= c.3512A= (p.Glu1171=) c.3500A= (p.Glu1167=) c.94-89554A= (n.94-89554A=) c.94-90043A= (n.94-90043A=) n.336-237690A= c.3488A= (p.Glu1163=) c.3143A= (p.Glu1048=) c.3383A= (p.Glu1128=) | |
X | g.32454754C>A | CA412663240 | DMD | n.3718G>T c.3511G>T (p.Glu1171Ter) c.3499G>T (p.Glu1167Ter) c.94-89555G>T (n.94-89555G>T) c.94-90044G>T (n.94-90044G>T) n.336-237691G>T c.3487G>T (p.Glu1163Ter) c.3142G>T (p.Glu1048Ter) c.3382G>T (p.Glu1128Ter) | ClinVar dbSNP |
X | g.32454754C= | CA2422811223 | DMD | n.3718G= c.3511G= (p.Glu1171=) c.3499G= (p.Glu1167=) c.94-89555G= (n.94-89555G=) c.94-90044G= (n.94-90044G=) n.336-237691G= c.3487G= (p.Glu1163=) c.3142G= (p.Glu1048=) c.3382G= (p.Glu1128=) | |
X | g.32454754C>G | CA412663239 | DMD | n.3718G>C c.3511G>C (p.Glu1171Gln) c.3499G>C (p.Glu1167Gln) c.94-89555G>C (n.94-89555G>C) c.94-90044G>C (n.94-90044G>C) n.336-237691G>C c.3487G>C (p.Glu1163Gln) c.3142G>C (p.Glu1048Gln) c.3382G>C (p.Glu1128Gln) | |
X | g.32454754C>T | CA412663238 | DMD | n.3718G>A c.3511G>A (p.Glu1171Lys) c.3499G>A (p.Glu1167Lys) c.94-89555G>A (n.94-89555G>A) c.94-90044G>A (n.94-90044G>A) n.336-237691G>A c.3487G>A (p.Glu1163Lys) c.3142G>A (p.Glu1048Lys) c.3382G>A (p.Glu1128Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.32454755G>A | CA327997022 | DMD | n.3717C>T c.3510C>T (p.His1170=) c.3498C>T (p.His1166=) c.94-89556C>T (n.94-89556C>T) c.94-90045C>T (n.94-90045C>T) n.336-237692C>T c.3486C>T (p.His1162=) c.3141C>T (p.His1047=) c.3381C>T (p.His1127=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454755G>C | CA412663241 | DMD | n.3717C>G c.3510C>G (p.His1170Gln) c.3498C>G (p.His1166Gln) c.94-89556C>G (n.94-89556C>G) c.94-90045C>G (n.94-90045C>G) n.336-237692C>G c.3486C>G (p.His1162Gln) c.3141C>G (p.His1047Gln) c.3381C>G (p.His1127Gln) | ClinVar |
X | g.32454755G= | CA2422811224 | DMD | n.3717C= c.3510C= (p.His1170=) c.3498C= (p.His1166=) c.94-89556C= (n.94-89556C=) c.94-90045C= (n.94-90045C=) n.336-237692C= c.3486C= (p.His1162=) c.3141C= (p.His1047=) c.3381C= (p.His1127=) | |
X | g.32454755G>T | CA412663242 | DMD | n.3717C>A c.3510C>A (p.His1170Gln) c.3498C>A (p.His1166Gln) c.94-89556C>A (n.94-89556C>A) c.94-90045C>A (n.94-90045C>A) n.336-237692C>A c.3486C>A (p.His1162Gln) c.3141C>A (p.His1047Gln) c.3381C>A (p.His1127Gln) | gnomAD v4 |
X | g.32454756T>A | CA412663243 | DMD | n.3716A>T c.3509A>T (p.His1170Leu) c.3497A>T (p.His1166Leu) c.94-89557A>T (n.94-89557A>T) c.94-90046A>T (n.94-90046A>T) n.336-237693A>T c.3485A>T (p.His1162Leu) c.3140A>T (p.His1047Leu) c.3380A>T (p.His1127Leu) | dbSNP |
X | g.32454756T>C | CA412663244 | DMD | n.3716A>G c.3509A>G (p.His1170Arg) c.3497A>G (p.His1166Arg) c.94-89557A>G (n.94-89557A>G) c.94-90046A>G (n.94-90046A>G) n.336-237693A>G c.3485A>G (p.His1162Arg) c.3140A>G (p.His1047Arg) c.3380A>G (p.His1127Arg) | |
X | g.32454756T>G | CA412663245 | DMD | n.3716A>C c.3509A>C (p.His1170Pro) c.3497A>C (p.His1166Pro) c.94-89557A>C (n.94-89557A>C) c.94-90046A>C (n.94-90046A>C) n.336-237693A>C c.3485A>C (p.His1162Pro) c.3140A>C (p.His1047Pro) c.3380A>C (p.His1127Pro) | |
X | g.32454757G>A | CA412663246 | DMD | n.3715C>T c.3508C>T (p.His1170Tyr) c.3496C>T (p.His1166Tyr) c.94-89558C>T (n.94-89558C>T) c.94-90047C>T (n.94-90047C>T) n.336-237694C>T c.3484C>T (p.His1162Tyr) c.3139C>T (p.His1047Tyr) c.3379C>T (p.His1127Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.32454757G>C | CA412663248 | DMD | n.3715C>G c.3508C>G (p.His1170Asp) c.3496C>G (p.His1166Asp) c.94-89558C>G (n.94-89558C>G) c.94-90047C>G (n.94-90047C>G) n.336-237694C>G c.3484C>G (p.His1162Asp) c.3139C>G (p.His1047Asp) c.3379C>G (p.His1127Asp) | |
X | g.32454757G= | CA2422811225 | DMD | n.3715C= c.3508C= (p.His1170=) c.3496C= (p.His1166=) c.94-89558C= (n.94-89558C=) c.94-90047C= (n.94-90047C=) n.336-237694C= c.3484C= (p.His1162=) c.3139C= (p.His1047=) c.3379C= (p.His1127=) | |
X | g.32454757G>T | CA412663247 | DMD | n.3715C>A c.3508C>A (p.His1170Asn) c.3496C>A (p.His1166Asn) c.94-89558C>A (n.94-89558C>A) c.94-90047C>A (n.94-90047C>A) n.336-237694C>A c.3484C>A (p.His1162Asn) c.3139C>A (p.His1047Asn) c.3379C>A (p.His1127Asn) | gnomAD v4 |
X | g.32454758C>A | CA412663249 | DMD | n.3714G>T c.3507G>T (p.Met1169Ile) c.3495G>T (p.Met1165Ile) c.94-89559G>T (n.94-89559G>T) c.94-90048G>T (n.94-90048G>T) n.336-237695G>T c.3483G>T (p.Met1161Ile) c.3138G>T (p.Met1046Ile) c.3378G>T (p.Met1126Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.32454758C= | CA2422811226 | DMD | n.3714G= c.3507G= (p.Met1169=) c.3495G= (p.Met1165=) c.94-89559G= (n.94-89559G=) c.94-90048G= (n.94-90048G=) n.336-237695G= c.3483G= (p.Met1161=) c.3138G= (p.Met1046=) c.3378G= (p.Met1126=) | |
X | g.32454758C>G | CA412663250 | DMD | n.3714G>C c.3507G>C (p.Met1169Ile) c.3495G>C (p.Met1165Ile) c.94-89559G>C (n.94-89559G>C) c.94-90048G>C (n.94-90048G>C) n.336-237695G>C c.3483G>C (p.Met1161Ile) c.3138G>C (p.Met1046Ile) c.3378G>C (p.Met1126Ile) | |
X | g.32454758C>T | CA412663251 | DMD | n.3714G>A c.3507G>A (p.Met1169Ile) c.3495G>A (p.Met1165Ile) c.94-89559G>A (n.94-89559G>A) c.94-90048G>A (n.94-90048G>A) n.336-237695G>A c.3483G>A (p.Met1161Ile) c.3138G>A (p.Met1046Ile) c.3378G>A (p.Met1126Ile) | |
X | g.32454759A>C | CA412663252 | DMD | n.3713T>G c.3506T>G (p.Met1169Arg) c.3494T>G (p.Met1165Arg) c.94-89560T>G (n.94-89560T>G) c.94-90049T>G (n.94-90049T>G) n.336-237696T>G c.3482T>G (p.Met1161Arg) c.3137T>G (p.Met1046Arg) c.3377T>G (p.Met1126Arg) | |
X | g.32454759A>G | CA412663253 | DMD | n.3713T>C c.3506T>C (p.Met1169Thr) c.3494T>C (p.Met1165Thr) c.94-89560T>C (n.94-89560T>C) c.94-90049T>C (n.94-90049T>C) n.336-237696T>C c.3482T>C (p.Met1161Thr) c.3137T>C (p.Met1046Thr) c.3377T>C (p.Met1126Thr) | |
X | g.32454759A>T | CA412663254 | DMD | n.3713T>A c.3506T>A (p.Met1169Lys) c.3494T>A (p.Met1165Lys) c.94-89560T>A (n.94-89560T>A) c.94-90049T>A (n.94-90049T>A) n.336-237696T>A c.3482T>A (p.Met1161Lys) c.3137T>A (p.Met1046Lys) c.3377T>A (p.Met1126Lys) | |
X | g.32454760T>A | CA412663255 | DMD | n.3712A>T c.3505A>T (p.Met1169Leu) c.3493A>T (p.Met1165Leu) c.94-89561A>T (n.94-89561A>T) c.94-90050A>T (n.94-90050A>T) n.336-237697A>T c.3481A>T (p.Met1161Leu) c.3136A>T (p.Met1046Leu) c.3376A>T (p.Met1126Leu) | |
X | g.32454760T>C | CA10379253 | DMD | n.3712A>G c.3505A>G (p.Met1169Val) c.3493A>G (p.Met1165Val) c.94-89561A>G (n.94-89561A>G) c.94-90050A>G (n.94-90050A>G) n.336-237697A>G c.3481A>G (p.Met1161Val) c.3136A>G (p.Met1046Val) c.3376A>G (p.Met1126Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32454760T>G | CA412663256 | DMD | n.3712A>C c.3505A>C (p.Met1169Leu) c.3493A>C (p.Met1165Leu) c.94-89561A>C (n.94-89561A>C) c.94-90050A>C (n.94-90050A>C) n.336-237697A>C c.3481A>C (p.Met1161Leu) c.3136A>C (p.Met1046Leu) c.3376A>C (p.Met1126Leu) | |
X | g.32454760T= | CA2422811227 | DMD | n.3712A= c.3505A= (p.Met1169=) c.3493A= (p.Met1165=) c.94-89561A= (n.94-89561A=) c.94-90050A= (n.94-90050A=) n.336-237697A= c.3481A= (p.Met1161=) c.3136A= (p.Met1046=) c.3376A= (p.Met1126=) | |
X | g.32454763_32454764del | CA2695231955 | DMD | n.3711_3712del c.3504_3505del (p.Glu1168AspfsTer9) c.3492_3493del (p.Glu1164AspfsTer9) c.94-89562_94-89561del (n.94-89562_94-89561del) c.94-90051_94-90050del (n.94-90051_94-90050del) n.336-237698_336-237697del c.3480_3481del (p.Glu1160AspfsTer9) c.3135_3136del (p.Glu1045AspfsTer9) c.3375_3376del (p.Glu1125AspfsTer9) | |
X | g.32454761C>A | CA412663257 | DMD | n.3711G>T c.3504G>T (p.Glu1168Asp) c.3492G>T (p.Glu1164Asp) c.94-89562G>T (n.94-89562G>T) c.94-90051G>T (n.94-90051G>T) n.336-237698G>T c.3480G>T (p.Glu1160Asp) c.3135G>T (p.Glu1045Asp) c.3375G>T (p.Glu1125Asp) | |
X | g.32454761C= | CA2422811228 | DMD | n.3711G= c.3504G= (p.Glu1168=) c.3492G= (p.Glu1164=) c.94-89562G= (n.94-89562G=) c.94-90051G= (n.94-90051G=) n.336-237698G= c.3480G= (p.Glu1160=) c.3135G= (p.Glu1045=) c.3375G= (p.Glu1125=) | |
X | g.32454761C>G | CA412663258 | DMD | n.3711G>C c.3504G>C (p.Glu1168Asp) c.3492G>C (p.Glu1164Asp) c.94-89562G>C (n.94-89562G>C) c.94-90051G>C (n.94-90051G>C) n.336-237698G>C c.3480G>C (p.Glu1160Asp) c.3135G>C (p.Glu1045Asp) c.3375G>C (p.Glu1125Asp) | |
X | g.32454761C>T | CA16608898 | DMD | n.3711G>A c.3504G>A (p.Glu1168=) c.3492G>A (p.Glu1164=) c.94-89562G>A (n.94-89562G>A) c.94-90051G>A (n.94-90051G>A) n.336-237698G>A c.3480G>A (p.Glu1160=) c.3135G>A (p.Glu1045=) c.3375G>A (p.Glu1125=) | ClinVar dbSNP |