UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31819943G>A | CA2693390445 | DMD | c.2155+32C>T (n.2155+32C>T) c.-72+32C>T (n.-72+32C>T) n.970+32C>T n.892+32C>T n.801+32C>T c.7309+32C>T (n.7309+32C>T) c.3277+32C>T (n.3277+32C>T) c.298+32C>T (n.298+32C>T) c.397+32C>T (n.397+32C>T) c.7297+32C>T (n.7297+32C>T) c.66+16775C>T (n.66+16775C>T) c.7294+32C>T (n.7294+32C>T) c.7306+32C>T (n.7306+32C>T) c.7285+32C>T (n.7285+32C>T) c.6940+32C>T (n.6940+32C>T) c.3286+32C>T (n.3286+32C>T) c.7180+32C>T (n.7180+32C>T) c.7171+32C>T (n.7171+32C>T) c.7186+32C>T (n.7186+32C>T) c.1483+32C>T (n.1483+32C>T) | gnomAD v4 |
| X | g.31819943G>C | CA10378299 | DMD | c.2155+32C>G (n.2155+32C>G) c.-72+32C>G (n.-72+32C>G) n.970+32C>G n.892+32C>G n.801+32C>G c.7309+32C>G (n.7309+32C>G) c.3277+32C>G (n.3277+32C>G) c.298+32C>G (n.298+32C>G) c.397+32C>G (n.397+32C>G) c.7297+32C>G (n.7297+32C>G) c.66+16775C>G (n.66+16775C>G) c.7294+32C>G (n.7294+32C>G) c.7306+32C>G (n.7306+32C>G) c.7285+32C>G (n.7285+32C>G) c.6940+32C>G (n.6940+32C>G) c.3286+32C>G (n.3286+32C>G) c.7180+32C>G (n.7180+32C>G) c.7171+32C>G (n.7171+32C>G) c.7186+32C>G (n.7186+32C>G) c.1483+32C>G (n.1483+32C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31819943G= | CA2422564552 | DMD | c.2155+32C= (n.2155+32C=) c.-72+32C= (n.-72+32C=) n.970+32C= n.892+32C= n.801+32C= c.7309+32C= (n.7309+32C=) c.3277+32C= (n.3277+32C=) c.298+32C= (n.298+32C=) c.397+32C= (n.397+32C=) c.7297+32C= (n.7297+32C=) c.66+16775C= (n.66+16775C=) c.7294+32C= (n.7294+32C=) c.7306+32C= (n.7306+32C=) c.7285+32C= (n.7285+32C=) c.6940+32C= (n.6940+32C=) c.3286+32C= (n.3286+32C=) c.7180+32C= (n.7180+32C=) c.7171+32C= (n.7171+32C=) c.7186+32C= (n.7186+32C=) c.1483+32C= (n.1483+32C=) | |
| X | g.31819945G>A | CA2693390446 | DMD | c.2155+30C>T (n.2155+30C>T) c.-72+30C>T (n.-72+30C>T) n.970+30C>T n.892+30C>T n.801+30C>T c.7309+30C>T (n.7309+30C>T) c.3277+30C>T (n.3277+30C>T) c.298+30C>T (n.298+30C>T) c.397+30C>T (n.397+30C>T) c.7297+30C>T (n.7297+30C>T) c.66+16773C>T (n.66+16773C>T) c.7294+30C>T (n.7294+30C>T) c.7306+30C>T (n.7306+30C>T) c.7285+30C>T (n.7285+30C>T) c.6940+30C>T (n.6940+30C>T) c.3286+30C>T (n.3286+30C>T) c.7180+30C>T (n.7180+30C>T) c.7171+30C>T (n.7171+30C>T) c.7186+30C>T (n.7186+30C>T) c.1483+30C>T (n.1483+30C>T) | gnomAD v4 |
| X | g.31819945G>T | CA2579579137 | DMD | c.2155+30C>A (n.2155+30C>A) c.-72+30C>A (n.-72+30C>A) n.970+30C>A n.892+30C>A n.801+30C>A c.7309+30C>A (n.7309+30C>A) c.3277+30C>A (n.3277+30C>A) c.298+30C>A (n.298+30C>A) c.397+30C>A (n.397+30C>A) c.7297+30C>A (n.7297+30C>A) c.66+16773C>A (n.66+16773C>A) c.7294+30C>A (n.7294+30C>A) c.7306+30C>A (n.7306+30C>A) c.7285+30C>A (n.7285+30C>A) c.6940+30C>A (n.6940+30C>A) c.3286+30C>A (n.3286+30C>A) c.7180+30C>A (n.7180+30C>A) c.7171+30C>A (n.7171+30C>A) c.7186+30C>A (n.7186+30C>A) c.1483+30C>A (n.1483+30C>A) | |
| X | g.31819947C>G | CA2741740972 | DMD | c.2155+28G>C (n.2155+28G>C) c.-72+28G>C (n.-72+28G>C) n.970+28G>C n.892+28G>C n.801+28G>C c.7309+28G>C (n.7309+28G>C) c.3277+28G>C (n.3277+28G>C) c.298+28G>C (n.298+28G>C) c.397+28G>C (n.397+28G>C) c.7297+28G>C (n.7297+28G>C) c.66+16771G>C (n.66+16771G>C) c.7294+28G>C (n.7294+28G>C) c.7306+28G>C (n.7306+28G>C) c.7285+28G>C (n.7285+28G>C) c.6940+28G>C (n.6940+28G>C) c.3286+28G>C (n.3286+28G>C) c.7180+28G>C (n.7180+28G>C) c.7171+28G>C (n.7171+28G>C) c.7186+28G>C (n.7186+28G>C) c.1483+28G>C (n.1483+28G>C) | |
| X | g.31819950A>C | CA2693390447 | DMD | c.2155+25T>G (n.2155+25T>G) c.-72+25T>G (n.-72+25T>G) n.970+25T>G n.892+25T>G n.801+25T>G c.7309+25T>G (n.7309+25T>G) c.3277+25T>G (n.3277+25T>G) c.298+25T>G (n.298+25T>G) c.397+25T>G (n.397+25T>G) c.7297+25T>G (n.7297+25T>G) c.66+16768T>G (n.66+16768T>G) c.7294+25T>G (n.7294+25T>G) c.7306+25T>G (n.7306+25T>G) c.7285+25T>G (n.7285+25T>G) c.6940+25T>G (n.6940+25T>G) c.3286+25T>G (n.3286+25T>G) c.7180+25T>G (n.7180+25T>G) c.7171+25T>G (n.7171+25T>G) c.7186+25T>G (n.7186+25T>G) c.1483+25T>G (n.1483+25T>G) | gnomAD v4 |
| X | g.31819951G= | CA2422564553 | DMD | c.2155+24C= (n.2155+24C=) c.-72+24C= (n.-72+24C=) n.970+24C= n.892+24C= n.801+24C= c.7309+24C= (n.7309+24C=) c.3277+24C= (n.3277+24C=) c.298+24C= (n.298+24C=) c.397+24C= (n.397+24C=) c.7297+24C= (n.7297+24C=) c.66+16767C= (n.66+16767C=) c.7294+24C= (n.7294+24C=) c.7306+24C= (n.7306+24C=) c.7285+24C= (n.7285+24C=) c.6940+24C= (n.6940+24C=) c.3286+24C= (n.3286+24C=) c.7180+24C= (n.7180+24C=) c.7171+24C= (n.7171+24C=) c.7186+24C= (n.7186+24C=) c.1483+24C= (n.1483+24C=) | |
| X | g.31819951G>T | CA641205846 | DMD | c.2155+24C>A (n.2155+24C>A) c.-72+24C>A (n.-72+24C>A) n.970+24C>A n.892+24C>A n.801+24C>A c.7309+24C>A (n.7309+24C>A) c.3277+24C>A (n.3277+24C>A) c.298+24C>A (n.298+24C>A) c.397+24C>A (n.397+24C>A) c.7297+24C>A (n.7297+24C>A) c.66+16767C>A (n.66+16767C>A) c.7294+24C>A (n.7294+24C>A) c.7306+24C>A (n.7306+24C>A) c.7285+24C>A (n.7285+24C>A) c.6940+24C>A (n.6940+24C>A) c.3286+24C>A (n.3286+24C>A) c.7180+24C>A (n.7180+24C>A) c.7171+24C>A (n.7171+24C>A) c.7186+24C>A (n.7186+24C>A) c.1483+24C>A (n.1483+24C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31819952A>C | CA657798812 | DMD | c.2155+23T>G (n.2155+23T>G) c.-72+23T>G (n.-72+23T>G) n.970+23T>G n.892+23T>G n.801+23T>G c.7309+23T>G (n.7309+23T>G) c.3277+23T>G (n.3277+23T>G) c.298+23T>G (n.298+23T>G) c.397+23T>G (n.397+23T>G) c.7297+23T>G (n.7297+23T>G) c.66+16766T>G (n.66+16766T>G) c.7294+23T>G (n.7294+23T>G) c.7306+23T>G (n.7306+23T>G) c.7285+23T>G (n.7285+23T>G) c.6940+23T>G (n.6940+23T>G) c.3286+23T>G (n.3286+23T>G) c.7180+23T>G (n.7180+23T>G) c.7171+23T>G (n.7171+23T>G) c.7186+23T>G (n.7186+23T>G) c.1483+23T>G (n.1483+23T>G) | COSMIC |
| X | g.31819952A>G | CA2592953138 | DMD | c.2155+23T>C (n.2155+23T>C) c.-72+23T>C (n.-72+23T>C) n.970+23T>C n.892+23T>C n.801+23T>C c.7309+23T>C (n.7309+23T>C) c.3277+23T>C (n.3277+23T>C) c.298+23T>C (n.298+23T>C) c.397+23T>C (n.397+23T>C) c.7297+23T>C (n.7297+23T>C) c.66+16766T>C (n.66+16766T>C) c.7294+23T>C (n.7294+23T>C) c.7306+23T>C (n.7306+23T>C) c.7285+23T>C (n.7285+23T>C) c.6940+23T>C (n.6940+23T>C) c.3286+23T>C (n.3286+23T>C) c.7180+23T>C (n.7180+23T>C) c.7171+23T>C (n.7171+23T>C) c.7186+23T>C (n.7186+23T>C) c.1483+23T>C (n.1483+23T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31819953G>A | CA2422564555 | DMD | c.2155+22C>T (n.2155+22C>T) c.-72+22C>T (n.-72+22C>T) n.970+22C>T n.892+22C>T n.801+22C>T c.7309+22C>T (n.7309+22C>T) c.3277+22C>T (n.3277+22C>T) c.298+22C>T (n.298+22C>T) c.397+22C>T (n.397+22C>T) c.7297+22C>T (n.7297+22C>T) c.66+16765C>T (n.66+16765C>T) c.7294+22C>T (n.7294+22C>T) c.7306+22C>T (n.7306+22C>T) c.7285+22C>T (n.7285+22C>T) c.6940+22C>T (n.6940+22C>T) c.3286+22C>T (n.3286+22C>T) c.7180+22C>T (n.7180+22C>T) c.7171+22C>T (n.7171+22C>T) c.7186+22C>T (n.7186+22C>T) c.1483+22C>T (n.1483+22C>T) | dbSNP |
| X | g.31819953G= | CA2422564554 | DMD | c.2155+22C= (n.2155+22C=) c.-72+22C= (n.-72+22C=) n.970+22C= n.892+22C= n.801+22C= c.7309+22C= (n.7309+22C=) c.3277+22C= (n.3277+22C=) c.298+22C= (n.298+22C=) c.397+22C= (n.397+22C=) c.7297+22C= (n.7297+22C=) c.66+16765C= (n.66+16765C=) c.7294+22C= (n.7294+22C=) c.7306+22C= (n.7306+22C=) c.7285+22C= (n.7285+22C=) c.6940+22C= (n.6940+22C=) c.3286+22C= (n.3286+22C=) c.7180+22C= (n.7180+22C=) c.7171+22C= (n.7171+22C=) c.7186+22C= (n.7186+22C=) c.1483+22C= (n.1483+22C=) | |
| X | g.31819953G>T | CA2693390448 | DMD | c.2155+22C>A (n.2155+22C>A) c.-72+22C>A (n.-72+22C>A) n.970+22C>A n.892+22C>A n.801+22C>A c.7309+22C>A (n.7309+22C>A) c.3277+22C>A (n.3277+22C>A) c.298+22C>A (n.298+22C>A) c.397+22C>A (n.397+22C>A) c.7297+22C>A (n.7297+22C>A) c.66+16765C>A (n.66+16765C>A) c.7294+22C>A (n.7294+22C>A) c.7306+22C>A (n.7306+22C>A) c.7285+22C>A (n.7285+22C>A) c.6940+22C>A (n.6940+22C>A) c.3286+22C>A (n.3286+22C>A) c.7180+22C>A (n.7180+22C>A) c.7171+22C>A (n.7171+22C>A) c.7186+22C>A (n.7186+22C>A) c.1483+22C>A (n.1483+22C>A) | gnomAD v4 |
| X | g.31819954A>G | CA2693390449 | DMD | c.2155+21T>C (n.2155+21T>C) c.-72+21T>C (n.-72+21T>C) n.970+21T>C n.892+21T>C n.801+21T>C c.7309+21T>C (n.7309+21T>C) c.3277+21T>C (n.3277+21T>C) c.298+21T>C (n.298+21T>C) c.397+21T>C (n.397+21T>C) c.7297+21T>C (n.7297+21T>C) c.66+16764T>C (n.66+16764T>C) c.7294+21T>C (n.7294+21T>C) c.7306+21T>C (n.7306+21T>C) c.7285+21T>C (n.7285+21T>C) c.6940+21T>C (n.6940+21T>C) c.3286+21T>C (n.3286+21T>C) c.7180+21T>C (n.7180+21T>C) c.7171+21T>C (n.7171+21T>C) c.7186+21T>C (n.7186+21T>C) c.1483+21T>C (n.1483+21T>C) | gnomAD v4 |
| X | g.31819957G>T | CA2579579139 | DMD | c.2155+18C>A (n.2155+18C>A) c.-72+18C>A (n.-72+18C>A) n.970+18C>A n.892+18C>A n.801+18C>A c.7309+18C>A (n.7309+18C>A) c.3277+18C>A (n.3277+18C>A) c.298+18C>A (n.298+18C>A) c.397+18C>A (n.397+18C>A) c.7297+18C>A (n.7297+18C>A) c.66+16761C>A (n.66+16761C>A) c.7294+18C>A (n.7294+18C>A) c.7306+18C>A (n.7306+18C>A) c.7285+18C>A (n.7285+18C>A) c.6940+18C>A (n.6940+18C>A) c.3286+18C>A (n.3286+18C>A) c.7180+18C>A (n.7180+18C>A) c.7171+18C>A (n.7171+18C>A) c.7186+18C>A (n.7186+18C>A) c.1483+18C>A (n.1483+18C>A) | gnomAD v4 |
| X | g.31819958G>T | CA2693390450 | DMD | c.2155+17C>A (n.2155+17C>A) c.-72+17C>A (n.-72+17C>A) n.970+17C>A n.892+17C>A n.801+17C>A c.7309+17C>A (n.7309+17C>A) c.3277+17C>A (n.3277+17C>A) c.298+17C>A (n.298+17C>A) c.397+17C>A (n.397+17C>A) c.7297+17C>A (n.7297+17C>A) c.66+16760C>A (n.66+16760C>A) c.7294+17C>A (n.7294+17C>A) c.7306+17C>A (n.7306+17C>A) c.7285+17C>A (n.7285+17C>A) c.6940+17C>A (n.6940+17C>A) c.3286+17C>A (n.3286+17C>A) c.7180+17C>A (n.7180+17C>A) c.7171+17C>A (n.7171+17C>A) c.7186+17C>A (n.7186+17C>A) c.1483+17C>A (n.1483+17C>A) | gnomAD v4 |
| X | g.31819959G>A | CA2422564557 | DMD | c.2155+16C>T (n.2155+16C>T) c.-72+16C>T (n.-72+16C>T) n.970+16C>T n.892+16C>T n.801+16C>T c.7309+16C>T (n.7309+16C>T) c.3277+16C>T (n.3277+16C>T) c.298+16C>T (n.298+16C>T) c.397+16C>T (n.397+16C>T) c.7297+16C>T (n.7297+16C>T) c.66+16759C>T (n.66+16759C>T) c.7294+16C>T (n.7294+16C>T) c.7306+16C>T (n.7306+16C>T) c.7285+16C>T (n.7285+16C>T) c.6940+16C>T (n.6940+16C>T) c.3286+16C>T (n.3286+16C>T) c.7180+16C>T (n.7180+16C>T) c.7171+16C>T (n.7171+16C>T) c.7186+16C>T (n.7186+16C>T) c.1483+16C>T (n.1483+16C>T) | dbSNP |
| X | g.31819959G= | CA2422564556 | DMD | c.2155+16C= (n.2155+16C=) c.-72+16C= (n.-72+16C=) n.970+16C= n.892+16C= n.801+16C= c.7309+16C= (n.7309+16C=) c.3277+16C= (n.3277+16C=) c.298+16C= (n.298+16C=) c.397+16C= (n.397+16C=) c.7297+16C= (n.7297+16C=) c.66+16759C= (n.66+16759C=) c.7294+16C= (n.7294+16C=) c.7306+16C= (n.7306+16C=) c.7285+16C= (n.7285+16C=) c.6940+16C= (n.6940+16C=) c.3286+16C= (n.3286+16C=) c.7180+16C= (n.7180+16C=) c.7171+16C= (n.7171+16C=) c.7186+16C= (n.7186+16C=) c.1483+16C= (n.1483+16C=) | |
| X | g.31819959G>T | CA2693390451 | DMD | c.2155+16C>A (n.2155+16C>A) c.-72+16C>A (n.-72+16C>A) n.970+16C>A n.892+16C>A n.801+16C>A c.7309+16C>A (n.7309+16C>A) c.3277+16C>A (n.3277+16C>A) c.298+16C>A (n.298+16C>A) c.397+16C>A (n.397+16C>A) c.7297+16C>A (n.7297+16C>A) c.66+16759C>A (n.66+16759C>A) c.7294+16C>A (n.7294+16C>A) c.7306+16C>A (n.7306+16C>A) c.7285+16C>A (n.7285+16C>A) c.6940+16C>A (n.6940+16C>A) c.3286+16C>A (n.3286+16C>A) c.7180+16C>A (n.7180+16C>A) c.7171+16C>A (n.7171+16C>A) c.7186+16C>A (n.7186+16C>A) c.1483+16C>A (n.1483+16C>A) | gnomAD v4 |
| X | g.31819960A>G | CA2693390452 | DMD | c.2155+15T>C (n.2155+15T>C) c.-72+15T>C (n.-72+15T>C) n.970+15T>C n.892+15T>C n.801+15T>C c.7309+15T>C (n.7309+15T>C) c.3277+15T>C (n.3277+15T>C) c.298+15T>C (n.298+15T>C) c.397+15T>C (n.397+15T>C) c.7297+15T>C (n.7297+15T>C) c.66+16758T>C (n.66+16758T>C) c.7294+15T>C (n.7294+15T>C) c.7306+15T>C (n.7306+15T>C) c.7285+15T>C (n.7285+15T>C) c.6940+15T>C (n.6940+15T>C) c.3286+15T>C (n.3286+15T>C) c.7180+15T>C (n.7180+15T>C) c.7171+15T>C (n.7171+15T>C) c.7186+15T>C (n.7186+15T>C) c.1483+15T>C (n.1483+15T>C) | gnomAD v4 |
| X | g.31819961_31819962insATGGGGAGTGTTCTCTGGAGATA | CA2570891364 | DMD | c.2155+13_2155+14insTATCTCCAGAGAACACTCCCCAT (n.2155+13_2155+14insTATCTCCAGAGAACACTCCCCAT) c.-72+13_-72+14insTATCTCCAGAGAACACTCCCCAT (n.-72+13_-72+14insTATCTCCAGAGAACACTCCCCAT) n.970+13_970+14insTATCTCCAGAGAACACTCCCCAT n.892+13_892+14insTATCTCCAGAGAACACTCCCCAT n.801+13_801+14insTATCTCCAGAGAACACTCCCCAT c.7309+13_7309+14insTATCTCCAGAGAACACTCCCCAT (n.7309+13_7309+14insTATCTCCAGAGAACACTCCCCAT) c.3277+13_3277+14insTATCTCCAGAGAACACTCCCCAT (n.3277+13_3277+14insTATCTCCAGAGAACACTCCCCAT) c.298+13_298+14insTATCTCCAGAGAACACTCCCCAT (n.298+13_298+14insTATCTCCAGAGAACACTCCCCAT) c.397+13_397+14insTATCTCCAGAGAACACTCCCCAT (n.397+13_397+14insTATCTCCAGAGAACACTCCCCAT) c.7297+13_7297+14insTATCTCCAGAGAACACTCCCCAT (n.7297+13_7297+14insTATCTCCAGAGAACACTCCCCAT) c.66+16756_66+16757insTATCTCCAGAGAACACTCCCCAT (n.66+16756_66+16757insTATCTCCAGAGAACACTCCCCAT) c.7294+13_7294+14insTATCTCCAGAGAACACTCCCCAT (n.7294+13_7294+14insTATCTCCAGAGAACACTCCCCAT) c.7306+13_7306+14insTATCTCCAGAGAACACTCCCCAT (n.7306+13_7306+14insTATCTCCAGAGAACACTCCCCAT) c.7285+13_7285+14insTATCTCCAGAGAACACTCCCCAT (n.7285+13_7285+14insTATCTCCAGAGAACACTCCCCAT) c.6940+13_6940+14insTATCTCCAGAGAACACTCCCCAT (n.6940+13_6940+14insTATCTCCAGAGAACACTCCCCAT) c.3286+13_3286+14insTATCTCCAGAGAACACTCCCCAT (n.3286+13_3286+14insTATCTCCAGAGAACACTCCCCAT) c.7180+13_7180+14insTATCTCCAGAGAACACTCCCCAT (n.7180+13_7180+14insTATCTCCAGAGAACACTCCCCAT) c.7171+13_7171+14insTATCTCCAGAGAACACTCCCCAT (n.7171+13_7171+14insTATCTCCAGAGAACACTCCCCAT) c.7186+13_7186+14insTATCTCCAGAGAACACTCCCCAT (n.7186+13_7186+14insTATCTCCAGAGAACACTCCCCAT) c.1483+13_1483+14insTATCTCCAGAGAACACTCCCCAT (n.1483+13_1483+14insTATCTCCAGAGAACACTCCCCAT) | |
| X | g.31819962C>T | CA2693390453 | DMD | c.2155+13G>A (n.2155+13G>A) c.-72+13G>A (n.-72+13G>A) n.970+13G>A n.892+13G>A n.801+13G>A c.7309+13G>A (n.7309+13G>A) c.3277+13G>A (n.3277+13G>A) c.298+13G>A (n.298+13G>A) c.397+13G>A (n.397+13G>A) c.7297+13G>A (n.7297+13G>A) c.66+16756G>A (n.66+16756G>A) c.7294+13G>A (n.7294+13G>A) c.7306+13G>A (n.7306+13G>A) c.7285+13G>A (n.7285+13G>A) c.6940+13G>A (n.6940+13G>A) c.3286+13G>A (n.3286+13G>A) c.7180+13G>A (n.7180+13G>A) c.7171+13G>A (n.7171+13G>A) c.7186+13G>A (n.7186+13G>A) c.1483+13G>A (n.1483+13G>A) | gnomAD v4 |
| X | g.31819965G>A | CA2573158641 | DMD | c.2155+10C>T (n.2155+10C>T) c.-72+10C>T (n.-72+10C>T) n.970+10C>T n.892+10C>T n.801+10C>T c.7309+10C>T (n.7309+10C>T) c.3277+10C>T (n.3277+10C>T) c.298+10C>T (n.298+10C>T) c.397+10C>T (n.397+10C>T) c.7297+10C>T (n.7297+10C>T) c.66+16753C>T (n.66+16753C>T) c.7294+10C>T (n.7294+10C>T) c.7306+10C>T (n.7306+10C>T) c.7285+10C>T (n.7285+10C>T) c.6940+10C>T (n.6940+10C>T) c.3286+10C>T (n.3286+10C>T) c.7180+10C>T (n.7180+10C>T) c.7171+10C>T (n.7171+10C>T) c.7186+10C>T (n.7186+10C>T) c.1483+10C>T (n.1483+10C>T) | ClinVar dbSNP |
| X | g.31819965G= | CA2422564558 | DMD | c.2155+10C= (n.2155+10C=) c.-72+10C= (n.-72+10C=) n.970+10C= n.892+10C= n.801+10C= c.7309+10C= (n.7309+10C=) c.3277+10C= (n.3277+10C=) c.298+10C= (n.298+10C=) c.397+10C= (n.397+10C=) c.7297+10C= (n.7297+10C=) c.66+16753C= (n.66+16753C=) c.7294+10C= (n.7294+10C=) c.7306+10C= (n.7306+10C=) c.7285+10C= (n.7285+10C=) c.6940+10C= (n.6940+10C=) c.3286+10C= (n.3286+10C=) c.7180+10C= (n.7180+10C=) c.7171+10C= (n.7171+10C=) c.7186+10C= (n.7186+10C=) c.1483+10C= (n.1483+10C=) | |
| X | g.31819965G>T | CA2422564559 | DMD | c.2155+10C>A (n.2155+10C>A) c.-72+10C>A (n.-72+10C>A) n.970+10C>A n.892+10C>A n.801+10C>A c.7309+10C>A (n.7309+10C>A) c.3277+10C>A (n.3277+10C>A) c.298+10C>A (n.298+10C>A) c.397+10C>A (n.397+10C>A) c.7297+10C>A (n.7297+10C>A) c.66+16753C>A (n.66+16753C>A) c.7294+10C>A (n.7294+10C>A) c.7306+10C>A (n.7306+10C>A) c.7285+10C>A (n.7285+10C>A) c.6940+10C>A (n.6940+10C>A) c.3286+10C>A (n.3286+10C>A) c.7180+10C>A (n.7180+10C>A) c.7171+10C>A (n.7171+10C>A) c.7186+10C>A (n.7186+10C>A) c.1483+10C>A (n.1483+10C>A) | ClinVar dbSNP gnomAD v4 |
| X | g.31819966T>C | CA10378300 | DMD | c.2155+9A>G (n.2155+9A>G) c.-72+9A>G (n.-72+9A>G) n.970+9A>G n.892+9A>G n.801+9A>G c.7309+9A>G (n.7309+9A>G) c.3277+9A>G (n.3277+9A>G) c.298+9A>G (n.298+9A>G) c.397+9A>G (n.397+9A>G) c.7297+9A>G (n.7297+9A>G) c.66+16752A>G (n.66+16752A>G) c.7294+9A>G (n.7294+9A>G) c.7306+9A>G (n.7306+9A>G) c.7285+9A>G (n.7285+9A>G) c.6940+9A>G (n.6940+9A>G) c.3286+9A>G (n.3286+9A>G) c.7180+9A>G (n.7180+9A>G) c.7171+9A>G (n.7171+9A>G) c.7186+9A>G (n.7186+9A>G) c.1483+9A>G (n.1483+9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.31819966T= | CA2422564560 | DMD | c.2155+9A= (n.2155+9A=) c.-72+9A= (n.-72+9A=) n.970+9A= n.892+9A= n.801+9A= c.7309+9A= (n.7309+9A=) c.3277+9A= (n.3277+9A=) c.298+9A= (n.298+9A=) c.397+9A= (n.397+9A=) c.7297+9A= (n.7297+9A=) c.66+16752A= (n.66+16752A=) c.7294+9A= (n.7294+9A=) c.7306+9A= (n.7306+9A=) c.7285+9A= (n.7285+9A=) c.6940+9A= (n.6940+9A=) c.3286+9A= (n.3286+9A=) c.7180+9A= (n.7180+9A=) c.7171+9A= (n.7171+9A=) c.7186+9A= (n.7186+9A=) c.1483+9A= (n.1483+9A=) | |
| X | g.31819967A= | CA2422564561 | DMD | c.2155+8T= (n.2155+8T=) c.-72+8T= (n.-72+8T=) n.970+8T= n.892+8T= n.801+8T= c.7309+8T= (n.7309+8T=) c.3277+8T= (n.3277+8T=) c.298+8T= (n.298+8T=) c.397+8T= (n.397+8T=) c.7297+8T= (n.7297+8T=) c.66+16751T= (n.66+16751T=) c.7294+8T= (n.7294+8T=) c.7306+8T= (n.7306+8T=) c.7285+8T= (n.7285+8T=) c.6940+8T= (n.6940+8T=) c.3286+8T= (n.3286+8T=) c.7180+8T= (n.7180+8T=) c.7171+8T= (n.7171+8T=) c.7186+8T= (n.7186+8T=) c.1483+8T= (n.1483+8T=) | |
| X | g.31819967A>G | CA10378301 | DMD | c.2155+8T>C (n.2155+8T>C) c.-72+8T>C (n.-72+8T>C) n.970+8T>C n.892+8T>C n.801+8T>C c.7309+8T>C (n.7309+8T>C) c.3277+8T>C (n.3277+8T>C) c.298+8T>C (n.298+8T>C) c.397+8T>C (n.397+8T>C) c.7297+8T>C (n.7297+8T>C) c.66+16751T>C (n.66+16751T>C) c.7294+8T>C (n.7294+8T>C) c.7306+8T>C (n.7306+8T>C) c.7285+8T>C (n.7285+8T>C) c.6940+8T>C (n.6940+8T>C) c.3286+8T>C (n.3286+8T>C) c.7180+8T>C (n.7180+8T>C) c.7171+8T>C (n.7171+8T>C) c.7186+8T>C (n.7186+8T>C) c.1483+8T>C (n.1483+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31819968T>C | CA2422564563 | DMD | c.2155+7A>G (n.2155+7A>G) c.-72+7A>G (n.-72+7A>G) n.970+7A>G n.892+7A>G n.801+7A>G c.7309+7A>G (n.7309+7A>G) c.3277+7A>G (n.3277+7A>G) c.298+7A>G (n.298+7A>G) c.397+7A>G (n.397+7A>G) c.7297+7A>G (n.7297+7A>G) c.66+16750A>G (n.66+16750A>G) c.7294+7A>G (n.7294+7A>G) c.7306+7A>G (n.7306+7A>G) c.7285+7A>G (n.7285+7A>G) c.6940+7A>G (n.6940+7A>G) c.3286+7A>G (n.3286+7A>G) c.7180+7A>G (n.7180+7A>G) c.7171+7A>G (n.7171+7A>G) c.7186+7A>G (n.7186+7A>G) c.1483+7A>G (n.1483+7A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.31819968T= | CA2422564562 | DMD | c.2155+7A= (n.2155+7A=) c.-72+7A= (n.-72+7A=) n.970+7A= n.892+7A= n.801+7A= c.7309+7A= (n.7309+7A=) c.3277+7A= (n.3277+7A=) c.298+7A= (n.298+7A=) c.397+7A= (n.397+7A=) c.7297+7A= (n.7297+7A=) c.66+16750A= (n.66+16750A=) c.7294+7A= (n.7294+7A=) c.7306+7A= (n.7306+7A=) c.7285+7A= (n.7285+7A=) c.6940+7A= (n.6940+7A=) c.3286+7A= (n.3286+7A=) c.7180+7A= (n.7180+7A=) c.7171+7A= (n.7171+7A=) c.7186+7A= (n.7186+7A=) c.1483+7A= (n.1483+7A=) | |
| X | g.31819970C>G | CA2695233103 | DMD | c.2155+5G>C (n.2155+5G>C) c.-72+5G>C (n.-72+5G>C) n.970+5G>C n.892+5G>C n.801+5G>C c.7309+5G>C (n.7309+5G>C) c.3277+5G>C (n.3277+5G>C) c.298+5G>C (n.298+5G>C) c.397+5G>C (n.397+5G>C) c.7297+5G>C (n.7297+5G>C) c.66+16748G>C (n.66+16748G>C) c.7294+5G>C (n.7294+5G>C) c.7306+5G>C (n.7306+5G>C) c.7285+5G>C (n.7285+5G>C) c.6940+5G>C (n.6940+5G>C) c.3286+5G>C (n.3286+5G>C) c.7180+5G>C (n.7180+5G>C) c.7171+5G>C (n.7171+5G>C) c.7186+5G>C (n.7186+5G>C) c.1483+5G>C (n.1483+5G>C) | |
| X | g.31819970C>T | CA2695233102 | DMD | c.2155+5G>A (n.2155+5G>A) c.-72+5G>A (n.-72+5G>A) n.970+5G>A n.892+5G>A n.801+5G>A c.7309+5G>A (n.7309+5G>A) c.3277+5G>A (n.3277+5G>A) c.298+5G>A (n.298+5G>A) c.397+5G>A (n.397+5G>A) c.7297+5G>A (n.7297+5G>A) c.66+16748G>A (n.66+16748G>A) c.7294+5G>A (n.7294+5G>A) c.7306+5G>A (n.7306+5G>A) c.7285+5G>A (n.7285+5G>A) c.6940+5G>A (n.6940+5G>A) c.3286+5G>A (n.3286+5G>A) c.7180+5G>A (n.7180+5G>A) c.7171+5G>A (n.7171+5G>A) c.7186+5G>A (n.7186+5G>A) c.1483+5G>A (n.1483+5G>A) | ClinVar |
| X | g.31819972del | CA2573158642 | DMD | c.2155+4del (n.2155+4del) c.-72+4del (n.-72+4del) n.970+4del n.892+4del n.801+4del c.7309+4del (n.7309+4del) c.3277+4del (n.3277+4del) c.298+4del (n.298+4del) c.397+4del (n.397+4del) c.7297+4del (n.7297+4del) c.66+16747del (n.66+16747del) c.7294+4del (n.7294+4del) c.7306+4del (n.7306+4del) c.7285+4del (n.7285+4del) c.6940+4del (n.6940+4del) c.3286+4del (n.3286+4del) c.7180+4del (n.7180+4del) c.7171+4del (n.7171+4del) c.7186+4del (n.7186+4del) c.1483+4del (n.1483+4del) | ClinVar dbSNP |
| X | g.31819973A>C | CA412658445 | DMD | c.2155+2T>G (n.2155+2T>G) c.-72+2T>G (n.-72+2T>G) n.970+2T>G n.892+2T>G n.801+2T>G c.7309+2T>G (n.7309+2T>G) c.3277+2T>G (n.3277+2T>G) c.298+2T>G (n.298+2T>G) c.397+2T>G (n.397+2T>G) c.7297+2T>G (n.7297+2T>G) c.66+16745T>G (n.66+16745T>G) c.7294+2T>G (n.7294+2T>G) c.7306+2T>G (n.7306+2T>G) c.7285+2T>G (n.7285+2T>G) c.6940+2T>G (n.6940+2T>G) c.3286+2T>G (n.3286+2T>G) c.7180+2T>G (n.7180+2T>G) c.7171+2T>G (n.7171+2T>G) c.7186+2T>G (n.7186+2T>G) c.1483+2T>G (n.1483+2T>G) | |
| X | g.31819973A>G | CA412658443 | DMD | c.2155+2T>C (n.2155+2T>C) c.-72+2T>C (n.-72+2T>C) n.970+2T>C n.892+2T>C n.801+2T>C c.7309+2T>C (n.7309+2T>C) c.3277+2T>C (n.3277+2T>C) c.298+2T>C (n.298+2T>C) c.397+2T>C (n.397+2T>C) c.7297+2T>C (n.7297+2T>C) c.66+16745T>C (n.66+16745T>C) c.7294+2T>C (n.7294+2T>C) c.7306+2T>C (n.7306+2T>C) c.7285+2T>C (n.7285+2T>C) c.6940+2T>C (n.6940+2T>C) c.3286+2T>C (n.3286+2T>C) c.7180+2T>C (n.7180+2T>C) c.7171+2T>C (n.7171+2T>C) c.7186+2T>C (n.7186+2T>C) c.1483+2T>C (n.1483+2T>C) | |
| X | g.31819973A>T | CA412658444 | DMD | c.2155+2T>A (n.2155+2T>A) c.-72+2T>A (n.-72+2T>A) n.970+2T>A n.892+2T>A n.801+2T>A c.7309+2T>A (n.7309+2T>A) c.3277+2T>A (n.3277+2T>A) c.298+2T>A (n.298+2T>A) c.397+2T>A (n.397+2T>A) c.7297+2T>A (n.7297+2T>A) c.66+16745T>A (n.66+16745T>A) c.7294+2T>A (n.7294+2T>A) c.7306+2T>A (n.7306+2T>A) c.7285+2T>A (n.7285+2T>A) c.6940+2T>A (n.6940+2T>A) c.3286+2T>A (n.3286+2T>A) c.7180+2T>A (n.7180+2T>A) c.7171+2T>A (n.7171+2T>A) c.7186+2T>A (n.7186+2T>A) c.1483+2T>A (n.1483+2T>A) | |
| X | g.31819973_31819974insGCA | CA2695233106 | DMD | c.2155+2_2155+3insGCT (n.2155+2_2155+3insGCT) c.-72+2_-72+3insGCT (n.-72+2_-72+3insGCT) n.970+2_970+3insGCT n.892+2_892+3insGCT n.801+2_801+3insGCT c.7309+2_7309+3insGCT (n.7309+2_7309+3insGCT) c.3277+2_3277+3insGCT (n.3277+2_3277+3insGCT) c.298+2_298+3insGCT (n.298+2_298+3insGCT) c.397+2_397+3insGCT (n.397+2_397+3insGCT) c.7297+2_7297+3insGCT (n.7297+2_7297+3insGCT) c.66+16745_66+16746insGCT (n.66+16745_66+16746insGCT) c.7294+2_7294+3insGCT (n.7294+2_7294+3insGCT) c.7306+2_7306+3insGCT (n.7306+2_7306+3insGCT) c.7285+2_7285+3insGCT (n.7285+2_7285+3insGCT) c.6940+2_6940+3insGCT (n.6940+2_6940+3insGCT) c.3286+2_3286+3insGCT (n.3286+2_3286+3insGCT) c.7180+2_7180+3insGCT (n.7180+2_7180+3insGCT) c.7171+2_7171+3insGCT (n.7171+2_7171+3insGCT) c.7186+2_7186+3insGCT (n.7186+2_7186+3insGCT) c.1483+2_1483+3insGCT (n.1483+2_1483+3insGCT) | |
| X | g.31819973dup | CA2580100754 | DMD | c.2155+2dup (n.2155+2dup) c.-72+2dup (n.-72+2dup) n.970+2dup n.892+2dup n.801+2dup c.7309+2dup (n.7309+2dup) c.3277+2dup (n.3277+2dup) c.298+2dup (n.298+2dup) c.397+2dup (n.397+2dup) c.7297+2dup (n.7297+2dup) c.66+16745dup (n.66+16745dup) c.7294+2dup (n.7294+2dup) c.7306+2dup (n.7306+2dup) c.7285+2dup (n.7285+2dup) c.6940+2dup (n.6940+2dup) c.3286+2dup (n.3286+2dup) c.7180+2dup (n.7180+2dup) c.7171+2dup (n.7171+2dup) c.7186+2dup (n.7186+2dup) c.1483+2dup (n.1483+2dup) | ClinVar |
| X | g.31819974C>A | CA412658446 | DMD | c.2155+1G>T (n.2155+1G>T) c.-72+1G>T (n.-72+1G>T) n.970+1G>T n.892+1G>T n.801+1G>T c.7309+1G>T (n.7309+1G>T) c.3277+1G>T (n.3277+1G>T) c.298+1G>T (n.298+1G>T) c.397+1G>T (n.397+1G>T) c.7297+1G>T (n.7297+1G>T) c.66+16744G>T (n.66+16744G>T) c.7294+1G>T (n.7294+1G>T) c.7306+1G>T (n.7306+1G>T) c.7285+1G>T (n.7285+1G>T) c.6940+1G>T (n.6940+1G>T) c.3286+1G>T (n.3286+1G>T) c.7180+1G>T (n.7180+1G>T) c.7171+1G>T (n.7171+1G>T) c.7186+1G>T (n.7186+1G>T) c.1483+1G>T (n.1483+1G>T) | ClinVar dbSNP COSMIC COSMIC |
| X | g.31819974C= | CA2422564564 | DMD | c.2155+1G= (n.2155+1G=) c.-72+1G= (n.-72+1G=) n.970+1G= n.892+1G= n.801+1G= c.7309+1G= (n.7309+1G=) c.3277+1G= (n.3277+1G=) c.298+1G= (n.298+1G=) c.397+1G= (n.397+1G=) c.7297+1G= (n.7297+1G=) c.66+16744G= (n.66+16744G=) c.7294+1G= (n.7294+1G=) c.7306+1G= (n.7306+1G=) c.7285+1G= (n.7285+1G=) c.6940+1G= (n.6940+1G=) c.3286+1G= (n.3286+1G=) c.7180+1G= (n.7180+1G=) c.7171+1G= (n.7171+1G=) c.7186+1G= (n.7186+1G=) c.1483+1G= (n.1483+1G=) | |
| X | g.31819974C>G | CA412658447 | DMD | c.2155+1G>C (n.2155+1G>C) c.-72+1G>C (n.-72+1G>C) n.970+1G>C n.892+1G>C n.801+1G>C c.7309+1G>C (n.7309+1G>C) c.3277+1G>C (n.3277+1G>C) c.298+1G>C (n.298+1G>C) c.397+1G>C (n.397+1G>C) c.7297+1G>C (n.7297+1G>C) c.66+16744G>C (n.66+16744G>C) c.7294+1G>C (n.7294+1G>C) c.7306+1G>C (n.7306+1G>C) c.7285+1G>C (n.7285+1G>C) c.6940+1G>C (n.6940+1G>C) c.3286+1G>C (n.3286+1G>C) c.7180+1G>C (n.7180+1G>C) c.7171+1G>C (n.7171+1G>C) c.7186+1G>C (n.7186+1G>C) c.1483+1G>C (n.1483+1G>C) | ClinVar dbSNP |
| X | g.31819974C>T | CA267133 | DMD | c.2155+1G>A (n.2155+1G>A) c.-72+1G>A (n.-72+1G>A) n.970+1G>A n.892+1G>A n.801+1G>A c.7309+1G>A (n.7309+1G>A) c.3277+1G>A (n.3277+1G>A) c.298+1G>A (n.298+1G>A) c.397+1G>A (n.397+1G>A) c.7297+1G>A (n.7297+1G>A) c.66+16744G>A (n.66+16744G>A) c.7294+1G>A (n.7294+1G>A) c.7306+1G>A (n.7306+1G>A) c.7285+1G>A (n.7285+1G>A) c.6940+1G>A (n.6940+1G>A) c.3286+1G>A (n.3286+1G>A) c.7180+1G>A (n.7180+1G>A) c.7171+1G>A (n.7171+1G>A) c.7186+1G>A (n.7186+1G>A) c.1483+1G>A (n.1483+1G>A) | ClinVar dbSNP |
| X | g.31819975A>C | CA412658448 | DMD | c.2155T>G (p.Ser719Ala) c.-72T>G (n.-72T>G) n.970T>G n.892T>G n.801T>G c.7309T>G (p.Ser2437Ala) c.3277T>G (p.Ser1093Ala) c.298T>G (p.Ser100Ala) c.397T>G (p.Ser133Ala) c.7297T>G (p.Ser2433Ala) c.66+16743T>G (n.66+16743T>G) c.7294T>G (p.Ser2432Ala) c.7306T>G (p.Ser2436Ala) c.7285T>G (p.Ser2429Ala) c.6940T>G (p.Ser2314Ala) c.3286T>G (p.Ser1096Ala) c.7180T>G (p.Ser2394Ala) c.7171T>G (p.Ser2391Ala) c.7186T>G (p.Ser2396Ala) c.1483T>G (p.Ser495Ala) | |
| X | g.31819975A>G | CA412658449 | DMD | c.2155T>C (p.Ser719Pro) c.-72T>C (n.-72T>C) n.970T>C n.892T>C n.801T>C c.7309T>C (p.Ser2437Pro) c.3277T>C (p.Ser1093Pro) c.298T>C (p.Ser100Pro) c.397T>C (p.Ser133Pro) c.7297T>C (p.Ser2433Pro) c.66+16743T>C (n.66+16743T>C) c.7294T>C (p.Ser2432Pro) c.7306T>C (p.Ser2436Pro) c.7285T>C (p.Ser2429Pro) c.6940T>C (p.Ser2314Pro) c.3286T>C (p.Ser1096Pro) c.7180T>C (p.Ser2394Pro) c.7171T>C (p.Ser2391Pro) c.7186T>C (p.Ser2396Pro) c.1483T>C (p.Ser495Pro) | gnomAD v4 |
| X | g.31819975A>T | CA412658450 | DMD | c.2155T>A (p.Ser719Thr) c.-72T>A (n.-72T>A) n.970T>A n.892T>A n.801T>A c.7309T>A (p.Ser2437Thr) c.3277T>A (p.Ser1093Thr) c.298T>A (p.Ser100Thr) c.397T>A (p.Ser133Thr) c.7297T>A (p.Ser2433Thr) c.66+16743T>A (n.66+16743T>A) c.7294T>A (p.Ser2432Thr) c.7306T>A (p.Ser2436Thr) c.7285T>A (p.Ser2429Thr) c.6940T>A (p.Ser2314Thr) c.3286T>A (p.Ser1096Thr) c.7180T>A (p.Ser2394Thr) c.7171T>A (p.Ser2391Thr) c.7186T>A (p.Ser2396Thr) c.1483T>A (p.Ser495Thr) | |
| X | g.31819977_31819986del | CA2738515237 | DMD | c.2146_2155del (p.Ile716LeufsTer9) c.-81_-72del (n.-81_-72del) n.961_970del n.883_892del n.792_801del c.7300_7309del (p.Ile2434LeufsTer9) c.3268_3277del (p.Ile1090LeufsTer9) c.289_298del (p.Ile97LeufsTer9) c.388_397del (p.Ile130LeufsTer9) c.7288_7297del (p.Ile2430LeufsTer9) c.66+16734_66+16743del (n.66+16734_66+16743del) c.7285_7294del (p.Ile2429LeufsTer9) c.7297_7306del (p.Ile2433LeufsTer9) c.7276_7285del (p.Ile2426LeufsTer9) c.6931_6940del (p.Ile2311LeufsTer9) c.3277_3286del (p.Ile1093LeufsTer9) c.7171_7180del (p.Ile2391LeufsTer9) c.7162_7171del (p.Ile2388LeufsTer9) c.7177_7186del (p.Ile2393LeufsTer9) c.1474_1483del (p.Ile492LeufsTer9) | dbSNP |
| X | g.31819976G>A | CA515859886 | DMD | c.2154C>T (p.Ala718=) c.-73C>T (n.-73C>T) n.969C>T n.891C>T n.800C>T c.7308C>T (p.Ala2436=) c.3276C>T (p.Ala1092=) c.297C>T (p.Ala99=) c.396C>T (p.Ala132=) c.7296C>T (p.Ala2432=) c.66+16742C>T (n.66+16742C>T) c.7293C>T (p.Ala2431=) c.7305C>T (p.Ala2435=) c.7284C>T (p.Ala2428=) c.6939C>T (p.Ala2313=) c.3285C>T (p.Ala1095=) c.7179C>T (p.Ala2393=) c.7170C>T (p.Ala2390=) c.7185C>T (p.Ala2395=) c.1482C>T (p.Ala494=) | |
| X | g.31819976G>C | CA10378302 | DMD | c.2154C>G (p.Ala718=) c.-73C>G (n.-73C>G) n.969C>G n.891C>G n.800C>G c.7308C>G (p.Ala2436=) c.3276C>G (p.Ala1092=) c.297C>G (p.Ala99=) c.396C>G (p.Ala132=) c.7296C>G (p.Ala2432=) c.66+16742C>G (n.66+16742C>G) c.7293C>G (p.Ala2431=) c.7305C>G (p.Ala2435=) c.7284C>G (p.Ala2428=) c.6939C>G (p.Ala2313=) c.3285C>G (p.Ala1095=) c.7179C>G (p.Ala2393=) c.7170C>G (p.Ala2390=) c.7185C>G (p.Ala2395=) c.1482C>G (p.Ala494=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31819976G= | CA2422564565 | DMD | c.2154C= (p.Ala718=) c.-73C= (n.-73C=) n.969C= n.891C= n.800C= c.7308C= (p.Ala2436=) c.3276C= (p.Ala1092=) c.297C= (p.Ala99=) c.396C= (p.Ala132=) c.7296C= (p.Ala2432=) c.66+16742C= (n.66+16742C=) c.7293C= (p.Ala2431=) c.7305C= (p.Ala2435=) c.7284C= (p.Ala2428=) c.6939C= (p.Ala2313=) c.3285C= (p.Ala1095=) c.7179C= (p.Ala2393=) c.7170C= (p.Ala2390=) c.7185C= (p.Ala2395=) c.1482C= (p.Ala494=) | |
| X | g.31819976G>T | CA515859887 | DMD | c.2154C>A (p.Ala718=) c.-73C>A (n.-73C>A) n.969C>A n.891C>A n.800C>A c.7308C>A (p.Ala2436=) c.3276C>A (p.Ala1092=) c.297C>A (p.Ala99=) c.396C>A (p.Ala132=) c.7296C>A (p.Ala2432=) c.66+16742C>A (n.66+16742C>A) c.7293C>A (p.Ala2431=) c.7305C>A (p.Ala2435=) c.7284C>A (p.Ala2428=) c.6939C>A (p.Ala2313=) c.3285C>A (p.Ala1095=) c.7179C>A (p.Ala2393=) c.7170C>A (p.Ala2390=) c.7185C>A (p.Ala2395=) c.1482C>A (p.Ala494=) | |
| X | g.31819977G>A | CA412658451 | DMD | c.2153C>T (p.Ala718Val) c.-74C>T (n.-74C>T) n.968C>T n.890C>T n.799C>T c.7307C>T (p.Ala2436Val) c.3275C>T (p.Ala1092Val) c.296C>T (p.Ala99Val) c.395C>T (p.Ala132Val) c.7295C>T (p.Ala2432Val) c.66+16741C>T (n.66+16741C>T) c.7292C>T (p.Ala2431Val) c.7304C>T (p.Ala2435Val) c.7283C>T (p.Ala2428Val) c.6938C>T (p.Ala2313Val) c.3284C>T (p.Ala1095Val) c.7178C>T (p.Ala2393Val) c.7169C>T (p.Ala2390Val) c.7184C>T (p.Ala2395Val) c.1481C>T (p.Ala494Val) | gnomAD v4 |
| X | g.31819977G>C | CA412658452 | DMD | c.2153C>G (p.Ala718Gly) c.-74C>G (n.-74C>G) n.968C>G n.890C>G n.799C>G c.7307C>G (p.Ala2436Gly) c.3275C>G (p.Ala1092Gly) c.296C>G (p.Ala99Gly) c.395C>G (p.Ala132Gly) c.7295C>G (p.Ala2432Gly) c.66+16741C>G (n.66+16741C>G) c.7292C>G (p.Ala2431Gly) c.7304C>G (p.Ala2435Gly) c.7283C>G (p.Ala2428Gly) c.6938C>G (p.Ala2313Gly) c.3284C>G (p.Ala1095Gly) c.7178C>G (p.Ala2393Gly) c.7169C>G (p.Ala2390Gly) c.7184C>G (p.Ala2395Gly) c.1481C>G (p.Ala494Gly) | ClinVar gnomAD v4 |
| X | g.31819977G>T | CA412658453 | DMD | c.2153C>A (p.Ala718Asp) c.-74C>A (n.-74C>A) n.968C>A n.890C>A n.799C>A c.7307C>A (p.Ala2436Asp) c.3275C>A (p.Ala1092Asp) c.296C>A (p.Ala99Asp) c.395C>A (p.Ala132Asp) c.7295C>A (p.Ala2432Asp) c.66+16741C>A (n.66+16741C>A) c.7292C>A (p.Ala2431Asp) c.7304C>A (p.Ala2435Asp) c.7283C>A (p.Ala2428Asp) c.6938C>A (p.Ala2313Asp) c.3284C>A (p.Ala1095Asp) c.7178C>A (p.Ala2393Asp) c.7169C>A (p.Ala2390Asp) c.7184C>A (p.Ala2395Asp) c.1481C>A (p.Ala494Asp) | |
| X | g.31819978C>A | CA412658454 | DMD | c.2152G>T (p.Ala718Ser) c.-75G>T (n.-75G>T) n.967G>T n.889G>T n.798G>T c.7306G>T (p.Ala2436Ser) c.3274G>T (p.Ala1092Ser) c.295G>T (p.Ala99Ser) c.394G>T (p.Ala132Ser) c.7294G>T (p.Ala2432Ser) c.66+16740G>T (n.66+16740G>T) c.7291G>T (p.Ala2431Ser) c.7303G>T (p.Ala2435Ser) c.7282G>T (p.Ala2428Ser) c.6937G>T (p.Ala2313Ser) c.3283G>T (p.Ala1095Ser) c.7177G>T (p.Ala2393Ser) c.7168G>T (p.Ala2390Ser) c.7183G>T (p.Ala2395Ser) c.1480G>T (p.Ala494Ser) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.31819978C>G | CA412658455 | DMD | c.2152G>C (p.Ala718Pro) c.-75G>C (n.-75G>C) n.967G>C n.889G>C n.798G>C c.7306G>C (p.Ala2436Pro) c.3274G>C (p.Ala1092Pro) c.295G>C (p.Ala99Pro) c.394G>C (p.Ala132Pro) c.7294G>C (p.Ala2432Pro) c.66+16740G>C (n.66+16740G>C) c.7291G>C (p.Ala2431Pro) c.7303G>C (p.Ala2435Pro) c.7282G>C (p.Ala2428Pro) c.6937G>C (p.Ala2313Pro) c.3283G>C (p.Ala1095Pro) c.7177G>C (p.Ala2393Pro) c.7168G>C (p.Ala2390Pro) c.7183G>C (p.Ala2395Pro) c.1480G>C (p.Ala494Pro) | |
| X | g.31819978C>T | CA412658456 | DMD | c.2152G>A (p.Ala718Thr) c.-75G>A (n.-75G>A) n.967G>A n.889G>A n.798G>A c.7306G>A (p.Ala2436Thr) c.3274G>A (p.Ala1092Thr) c.295G>A (p.Ala99Thr) c.394G>A (p.Ala132Thr) c.7294G>A (p.Ala2432Thr) c.66+16740G>A (n.66+16740G>A) c.7291G>A (p.Ala2431Thr) c.7303G>A (p.Ala2435Thr) c.7282G>A (p.Ala2428Thr) c.6937G>A (p.Ala2313Thr) c.3283G>A (p.Ala1095Thr) c.7177G>A (p.Ala2393Thr) c.7168G>A (p.Ala2390Thr) c.7183G>A (p.Ala2395Thr) c.1480G>A (p.Ala494Thr) | gnomAD v4 |
| X | g.31819979T>A | CA515859890 | DMD | c.2151A>T (p.Gly717=) c.-76A>T (n.-76A>T) n.966A>T n.888A>T n.797A>T c.7305A>T (p.Gly2435=) c.3273A>T (p.Gly1091=) c.294A>T (p.Gly98=) c.393A>T (p.Gly131=) c.7293A>T (p.Gly2431=) c.66+16739A>T (n.66+16739A>T) c.7290A>T (p.Gly2430=) c.7302A>T (p.Gly2434=) c.7281A>T (p.Gly2427=) c.6936A>T (p.Gly2312=) c.3282A>T (p.Gly1094=) c.7176A>T (p.Gly2392=) c.7167A>T (p.Gly2389=) c.7182A>T (p.Gly2394=) c.1479A>T (p.Gly493=) | ClinVar gnomAD v4 |
| X | g.31819979T>C | CA515859889 | DMD | c.2151A>G (p.Gly717=) c.-76A>G (n.-76A>G) n.966A>G n.888A>G n.797A>G c.7305A>G (p.Gly2435=) c.3273A>G (p.Gly1091=) c.294A>G (p.Gly98=) c.393A>G (p.Gly131=) c.7293A>G (p.Gly2431=) c.66+16739A>G (n.66+16739A>G) c.7290A>G (p.Gly2430=) c.7302A>G (p.Gly2434=) c.7281A>G (p.Gly2427=) c.6936A>G (p.Gly2312=) c.3282A>G (p.Gly1094=) c.7176A>G (p.Gly2392=) c.7167A>G (p.Gly2389=) c.7182A>G (p.Gly2394=) c.1479A>G (p.Gly493=) | |
| X | g.31819979T>G | CA515859888 | DMD | c.2151A>C (p.Gly717=) c.-76A>C (n.-76A>C) n.966A>C n.888A>C n.797A>C c.7305A>C (p.Gly2435=) c.3273A>C (p.Gly1091=) c.294A>C (p.Gly98=) c.393A>C (p.Gly131=) c.7293A>C (p.Gly2431=) c.66+16739A>C (n.66+16739A>C) c.7290A>C (p.Gly2430=) c.7302A>C (p.Gly2434=) c.7281A>C (p.Gly2427=) c.6936A>C (p.Gly2312=) c.3282A>C (p.Gly1094=) c.7176A>C (p.Gly2392=) c.7167A>C (p.Gly2389=) c.7182A>C (p.Gly2394=) c.1479A>C (p.Gly493=) | |
| X | g.31819980C>A | CA10378303 | DMD | c.2150G>T (p.Gly717Val) c.-77G>T (n.-77G>T) n.965G>T n.887G>T n.796G>T c.7304G>T (p.Gly2435Val) c.3272G>T (p.Gly1091Val) c.293G>T (p.Gly98Val) c.392G>T (p.Gly131Val) c.7292G>T (p.Gly2431Val) c.66+16738G>T (n.66+16738G>T) c.7289G>T (p.Gly2430Val) c.7301G>T (p.Gly2434Val) c.7280G>T (p.Gly2427Val) c.6935G>T (p.Gly2312Val) c.3281G>T (p.Gly1094Val) c.7175G>T (p.Gly2392Val) c.7166G>T (p.Gly2389Val) c.7181G>T (p.Gly2394Val) c.1478G>T (p.Gly493Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31819980C= | CA2422564566 | DMD | c.2150G= (p.Gly717=) c.-77G= (n.-77G=) n.965G= n.887G= n.796G= c.7304G= (p.Gly2435=) c.3272G= (p.Gly1091=) c.293G= (p.Gly98=) c.392G= (p.Gly131=) c.7292G= (p.Gly2431=) c.66+16738G= (n.66+16738G=) c.7289G= (p.Gly2430=) c.7301G= (p.Gly2434=) c.7280G= (p.Gly2427=) c.6935G= (p.Gly2312=) c.3281G= (p.Gly1094=) c.7175G= (p.Gly2392=) c.7166G= (p.Gly2389=) c.7181G= (p.Gly2394=) c.1478G= (p.Gly493=) | |
| X | g.31819980C>G | CA412658458 | DMD | c.2150G>C (p.Gly717Ala) c.-77G>C (n.-77G>C) n.965G>C n.887G>C n.796G>C c.7304G>C (p.Gly2435Ala) c.3272G>C (p.Gly1091Ala) c.293G>C (p.Gly98Ala) c.392G>C (p.Gly131Ala) c.7292G>C (p.Gly2431Ala) c.66+16738G>C (n.66+16738G>C) c.7289G>C (p.Gly2430Ala) c.7301G>C (p.Gly2434Ala) c.7280G>C (p.Gly2427Ala) c.6935G>C (p.Gly2312Ala) c.3281G>C (p.Gly1094Ala) c.7175G>C (p.Gly2392Ala) c.7166G>C (p.Gly2389Ala) c.7181G>C (p.Gly2394Ala) c.1478G>C (p.Gly493Ala) | |
| X | g.31819980C>T | CA412658457 | DMD | c.2150G>A (p.Gly717Glu) c.-77G>A (n.-77G>A) n.965G>A n.887G>A n.796G>A c.7304G>A (p.Gly2435Glu) c.3272G>A (p.Gly1091Glu) c.293G>A (p.Gly98Glu) c.392G>A (p.Gly131Glu) c.7292G>A (p.Gly2431Glu) c.66+16738G>A (n.66+16738G>A) c.7289G>A (p.Gly2430Glu) c.7301G>A (p.Gly2434Glu) c.7280G>A (p.Gly2427Glu) c.6935G>A (p.Gly2312Glu) c.3281G>A (p.Gly1094Glu) c.7175G>A (p.Gly2392Glu) c.7166G>A (p.Gly2389Glu) c.7181G>A (p.Gly2394Glu) c.1478G>A (p.Gly493Glu) | gnomAD v4 |
| X | g.31819981C>A | CA412658459 | DMD | c.2149G>T (p.Gly717Ter) c.-78G>T (n.-78G>T) n.964G>T n.886G>T n.795G>T c.7303G>T (p.Gly2435Ter) c.3271G>T (p.Gly1091Ter) c.292G>T (p.Gly98Ter) c.391G>T (p.Gly131Ter) c.7291G>T (p.Gly2431Ter) c.66+16737G>T (n.66+16737G>T) c.7288G>T (p.Gly2430Ter) c.7300G>T (p.Gly2434Ter) c.7279G>T (p.Gly2427Ter) c.6934G>T (p.Gly2312Ter) c.3280G>T (p.Gly1094Ter) c.7174G>T (p.Gly2392Ter) c.7165G>T (p.Gly2389Ter) c.7180G>T (p.Gly2394Ter) c.1477G>T (p.Gly493Ter) | |
| X | g.31819981C>G | CA412658460 | DMD | c.2149G>C (p.Gly717Arg) c.-78G>C (n.-78G>C) n.964G>C n.886G>C n.795G>C c.7303G>C (p.Gly2435Arg) c.3271G>C (p.Gly1091Arg) c.292G>C (p.Gly98Arg) c.391G>C (p.Gly131Arg) c.7291G>C (p.Gly2431Arg) c.66+16737G>C (n.66+16737G>C) c.7288G>C (p.Gly2430Arg) c.7300G>C (p.Gly2434Arg) c.7279G>C (p.Gly2427Arg) c.6934G>C (p.Gly2312Arg) c.3280G>C (p.Gly1094Arg) c.7174G>C (p.Gly2392Arg) c.7165G>C (p.Gly2389Arg) c.7180G>C (p.Gly2394Arg) c.1477G>C (p.Gly493Arg) | |
| X | g.31819981C>T | CA412658461 | DMD | c.2149G>A (p.Gly717Arg) c.-78G>A (n.-78G>A) n.964G>A n.886G>A n.795G>A c.7303G>A (p.Gly2435Arg) c.3271G>A (p.Gly1091Arg) c.292G>A (p.Gly98Arg) c.391G>A (p.Gly131Arg) c.7291G>A (p.Gly2431Arg) c.66+16737G>A (n.66+16737G>A) c.7288G>A (p.Gly2430Arg) c.7300G>A (p.Gly2434Arg) c.7279G>A (p.Gly2427Arg) c.6934G>A (p.Gly2312Arg) c.3280G>A (p.Gly1094Arg) c.7174G>A (p.Gly2392Arg) c.7165G>A (p.Gly2389Arg) c.7180G>A (p.Gly2394Arg) c.1477G>A (p.Gly493Arg) | |
| X | g.31819982A>C | CA412658462 | DMD | c.2148T>G (p.Ile716Met) c.-79T>G (n.-79T>G) n.963T>G n.885T>G n.794T>G c.7302T>G (p.Ile2434Met) c.3270T>G (p.Ile1090Met) c.291T>G (p.Ile97Met) c.390T>G (p.Ile130Met) c.7290T>G (p.Ile2430Met) c.66+16736T>G (n.66+16736T>G) c.7287T>G (p.Ile2429Met) c.7299T>G (p.Ile2433Met) c.7278T>G (p.Ile2426Met) c.6933T>G (p.Ile2311Met) c.3279T>G (p.Ile1093Met) c.7173T>G (p.Ile2391Met) c.7164T>G (p.Ile2388Met) c.7179T>G (p.Ile2393Met) c.1476T>G (p.Ile492Met) | |
| X | g.31819982A>G | CA515859894 | DMD | c.2148T>C (p.Ile716=) c.-79T>C (n.-79T>C) n.963T>C n.885T>C n.794T>C c.7302T>C (p.Ile2434=) c.3270T>C (p.Ile1090=) c.291T>C (p.Ile97=) c.390T>C (p.Ile130=) c.7290T>C (p.Ile2430=) c.66+16736T>C (n.66+16736T>C) c.7287T>C (p.Ile2429=) c.7299T>C (p.Ile2433=) c.7278T>C (p.Ile2426=) c.6933T>C (p.Ile2311=) c.3279T>C (p.Ile1093=) c.7173T>C (p.Ile2391=) c.7164T>C (p.Ile2388=) c.7179T>C (p.Ile2393=) c.1476T>C (p.Ile492=) | |
| X | g.31819982A>T | CA515859893 | DMD | c.2148T>A (p.Ile716=) c.-79T>A (n.-79T>A) n.963T>A n.885T>A n.794T>A c.7302T>A (p.Ile2434=) c.3270T>A (p.Ile1090=) c.291T>A (p.Ile97=) c.390T>A (p.Ile130=) c.7290T>A (p.Ile2430=) c.66+16736T>A (n.66+16736T>A) c.7287T>A (p.Ile2429=) c.7299T>A (p.Ile2433=) c.7278T>A (p.Ile2426=) c.6933T>A (p.Ile2311=) c.3279T>A (p.Ile1093=) c.7173T>A (p.Ile2391=) c.7164T>A (p.Ile2388=) c.7179T>A (p.Ile2393=) c.1476T>A (p.Ile492=) | |
| X | g.31819983A= | CA2422564567 | DMD | c.2147T= (p.Ile716=) c.-80T= (n.-80T=) n.962T= n.884T= n.793T= c.7301T= (p.Ile2434=) c.3269T= (p.Ile1090=) c.290T= (p.Ile97=) c.389T= (p.Ile130=) c.7289T= (p.Ile2430=) c.66+16735T= (n.66+16735T=) c.7286T= (p.Ile2429=) c.7298T= (p.Ile2433=) c.7277T= (p.Ile2426=) c.6932T= (p.Ile2311=) c.3278T= (p.Ile1093=) c.7172T= (p.Ile2391=) c.7163T= (p.Ile2388=) c.7178T= (p.Ile2393=) c.1475T= (p.Ile492=) | |
| X | g.31819983A>C | CA412658463 | DMD | c.2147T>G (p.Ile716Ser) c.-80T>G (n.-80T>G) n.962T>G n.884T>G n.793T>G c.7301T>G (p.Ile2434Ser) c.3269T>G (p.Ile1090Ser) c.290T>G (p.Ile97Ser) c.389T>G (p.Ile130Ser) c.7289T>G (p.Ile2430Ser) c.66+16735T>G (n.66+16735T>G) c.7286T>G (p.Ile2429Ser) c.7298T>G (p.Ile2433Ser) c.7277T>G (p.Ile2426Ser) c.6932T>G (p.Ile2311Ser) c.3278T>G (p.Ile1093Ser) c.7172T>G (p.Ile2391Ser) c.7163T>G (p.Ile2388Ser) c.7178T>G (p.Ile2393Ser) c.1475T>G (p.Ile492Ser) | |
| X | g.31819983A>G | CA10378304 | DMD | c.2147T>C (p.Ile716Thr) c.-80T>C (n.-80T>C) n.962T>C n.884T>C n.793T>C c.7301T>C (p.Ile2434Thr) c.3269T>C (p.Ile1090Thr) c.290T>C (p.Ile97Thr) c.389T>C (p.Ile130Thr) c.7289T>C (p.Ile2430Thr) c.66+16735T>C (n.66+16735T>C) c.7286T>C (p.Ile2429Thr) c.7298T>C (p.Ile2433Thr) c.7277T>C (p.Ile2426Thr) c.6932T>C (p.Ile2311Thr) c.3278T>C (p.Ile1093Thr) c.7172T>C (p.Ile2391Thr) c.7163T>C (p.Ile2388Thr) c.7178T>C (p.Ile2393Thr) c.1475T>C (p.Ile492Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31819983A>T | CA412658464 | DMD | c.2147T>A (p.Ile716Asn) c.-80T>A (n.-80T>A) n.962T>A n.884T>A n.793T>A c.7301T>A (p.Ile2434Asn) c.3269T>A (p.Ile1090Asn) c.290T>A (p.Ile97Asn) c.389T>A (p.Ile130Asn) c.7289T>A (p.Ile2430Asn) c.66+16735T>A (n.66+16735T>A) c.7286T>A (p.Ile2429Asn) c.7298T>A (p.Ile2433Asn) c.7277T>A (p.Ile2426Asn) c.6932T>A (p.Ile2311Asn) c.3278T>A (p.Ile1093Asn) c.7172T>A (p.Ile2391Asn) c.7163T>A (p.Ile2388Asn) c.7178T>A (p.Ile2393Asn) c.1475T>A (p.Ile492Asn) | |
| X | g.31819984T>A | CA412658465 | DMD | c.2146A>T (p.Ile716Phe) c.-81A>T (n.-81A>T) n.961A>T n.883A>T n.792A>T c.7300A>T (p.Ile2434Phe) c.3268A>T (p.Ile1090Phe) c.289A>T (p.Ile97Phe) c.388A>T (p.Ile130Phe) c.7288A>T (p.Ile2430Phe) c.66+16734A>T (n.66+16734A>T) c.7285A>T (p.Ile2429Phe) c.7297A>T (p.Ile2433Phe) c.7276A>T (p.Ile2426Phe) c.6931A>T (p.Ile2311Phe) c.3277A>T (p.Ile1093Phe) c.7171A>T (p.Ile2391Phe) c.7162A>T (p.Ile2388Phe) c.7177A>T (p.Ile2393Phe) c.1474A>T (p.Ile492Phe) | gnomAD v4 |
| X | g.31819984T>C | CA328476079 | DMD | c.2146A>G (p.Ile716Val) c.-81A>G (n.-81A>G) n.961A>G n.883A>G n.792A>G c.7300A>G (p.Ile2434Val) c.3268A>G (p.Ile1090Val) c.289A>G (p.Ile97Val) c.388A>G (p.Ile130Val) c.7288A>G (p.Ile2430Val) c.66+16734A>G (n.66+16734A>G) c.7285A>G (p.Ile2429Val) c.7297A>G (p.Ile2433Val) c.7276A>G (p.Ile2426Val) c.6931A>G (p.Ile2311Val) c.3277A>G (p.Ile1093Val) c.7171A>G (p.Ile2391Val) c.7162A>G (p.Ile2388Val) c.7177A>G (p.Ile2393Val) c.1474A>G (p.Ile492Val) | ClinVar dbSNP gnomAD v4 |
| X | g.31819984T>G | CA412658466 | DMD | c.2146A>C (p.Ile716Leu) c.-81A>C (n.-81A>C) n.961A>C n.883A>C n.792A>C c.7300A>C (p.Ile2434Leu) c.3268A>C (p.Ile1090Leu) c.289A>C (p.Ile97Leu) c.388A>C (p.Ile130Leu) c.7288A>C (p.Ile2430Leu) c.66+16734A>C (n.66+16734A>C) c.7285A>C (p.Ile2429Leu) c.7297A>C (p.Ile2433Leu) c.7276A>C (p.Ile2426Leu) c.6931A>C (p.Ile2311Leu) c.3277A>C (p.Ile1093Leu) c.7171A>C (p.Ile2391Leu) c.7162A>C (p.Ile2388Leu) c.7177A>C (p.Ile2393Leu) c.1474A>C (p.Ile492Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31819984T= | CA2422564568 | DMD | c.2146A= (p.Ile716=) c.-81A= (n.-81A=) n.961A= n.883A= n.792A= c.7300A= (p.Ile2434=) c.3268A= (p.Ile1090=) c.289A= (p.Ile97=) c.388A= (p.Ile130=) c.7288A= (p.Ile2430=) c.66+16734A= (n.66+16734A=) c.7285A= (p.Ile2429=) c.7297A= (p.Ile2433=) c.7276A= (p.Ile2426=) c.6931A= (p.Ile2311=) c.3277A= (p.Ile1093=) c.7171A= (p.Ile2391=) c.7162A= (p.Ile2388=) c.7177A= (p.Ile2393=) c.1474A= (p.Ile492=) | |
| X | g.31819985A>C | CA515859895 | DMD | c.2145T>G (p.Thr715=) c.-82T>G (n.-82T>G) n.960T>G n.882T>G n.791T>G c.7299T>G (p.Thr2433=) c.3267T>G (p.Thr1089=) c.288T>G (p.Thr96=) c.387T>G (p.Thr129=) c.7287T>G (p.Thr2429=) c.66+16733T>G (n.66+16733T>G) c.7284T>G (p.Thr2428=) c.7296T>G (p.Thr2432=) c.7275T>G (p.Thr2425=) c.6930T>G (p.Thr2310=) c.3276T>G (p.Thr1092=) c.7170T>G (p.Thr2390=) c.7161T>G (p.Thr2387=) c.7176T>G (p.Thr2392=) c.1473T>G (p.Thr491=) | COSMIC COSMIC COSMIC |
| X | g.31819985A>G | CA515859896 | DMD | c.2145T>C (p.Thr715=) c.-82T>C (n.-82T>C) n.960T>C n.882T>C n.791T>C c.7299T>C (p.Thr2433=) c.3267T>C (p.Thr1089=) c.288T>C (p.Thr96=) c.387T>C (p.Thr129=) c.7287T>C (p.Thr2429=) c.66+16733T>C (n.66+16733T>C) c.7284T>C (p.Thr2428=) c.7296T>C (p.Thr2432=) c.7275T>C (p.Thr2425=) c.6930T>C (p.Thr2310=) c.3276T>C (p.Thr1092=) c.7170T>C (p.Thr2390=) c.7161T>C (p.Thr2387=) c.7176T>C (p.Thr2392=) c.1473T>C (p.Thr491=) | |
| X | g.31819985A>T | CA515859897 | DMD | c.2145T>A (p.Thr715=) c.-82T>A (n.-82T>A) n.960T>A n.882T>A n.791T>A c.7299T>A (p.Thr2433=) c.3267T>A (p.Thr1089=) c.288T>A (p.Thr96=) c.387T>A (p.Thr129=) c.7287T>A (p.Thr2429=) c.66+16733T>A (n.66+16733T>A) c.7284T>A (p.Thr2428=) c.7296T>A (p.Thr2432=) c.7275T>A (p.Thr2425=) c.6930T>A (p.Thr2310=) c.3276T>A (p.Thr1092=) c.7170T>A (p.Thr2390=) c.7161T>A (p.Thr2387=) c.7176T>A (p.Thr2392=) c.1473T>A (p.Thr491=) | |
| X | g.31819986G>A | CA412658467 | DMD | c.2144C>T (p.Thr715Ile) c.-83C>T (n.-83C>T) n.959C>T n.881C>T n.790C>T c.7298C>T (p.Thr2433Ile) c.3266C>T (p.Thr1089Ile) c.287C>T (p.Thr96Ile) c.386C>T (p.Thr129Ile) c.7286C>T (p.Thr2429Ile) c.66+16732C>T (n.66+16732C>T) c.7283C>T (p.Thr2428Ile) c.7295C>T (p.Thr2432Ile) c.7274C>T (p.Thr2425Ile) c.6929C>T (p.Thr2310Ile) c.3275C>T (p.Thr1092Ile) c.7169C>T (p.Thr2390Ile) c.7160C>T (p.Thr2387Ile) c.7175C>T (p.Thr2392Ile) c.1472C>T (p.Thr491Ile) | gnomAD v4 |
| X | g.31819986G>C | CA412658468 | DMD | c.2144C>G (p.Thr715Ser) c.-83C>G (n.-83C>G) n.959C>G n.881C>G n.790C>G c.7298C>G (p.Thr2433Ser) c.3266C>G (p.Thr1089Ser) c.287C>G (p.Thr96Ser) c.386C>G (p.Thr129Ser) c.7286C>G (p.Thr2429Ser) c.66+16732C>G (n.66+16732C>G) c.7283C>G (p.Thr2428Ser) c.7295C>G (p.Thr2432Ser) c.7274C>G (p.Thr2425Ser) c.6929C>G (p.Thr2310Ser) c.3275C>G (p.Thr1092Ser) c.7169C>G (p.Thr2390Ser) c.7160C>G (p.Thr2387Ser) c.7175C>G (p.Thr2392Ser) c.1472C>G (p.Thr491Ser) | |
| X | g.31819986G>T | CA412658469 | DMD | c.2144C>A (p.Thr715Asn) c.-83C>A (n.-83C>A) n.959C>A n.881C>A n.790C>A c.7298C>A (p.Thr2433Asn) c.3266C>A (p.Thr1089Asn) c.287C>A (p.Thr96Asn) c.386C>A (p.Thr129Asn) c.7286C>A (p.Thr2429Asn) c.66+16732C>A (n.66+16732C>A) c.7283C>A (p.Thr2428Asn) c.7295C>A (p.Thr2432Asn) c.7274C>A (p.Thr2425Asn) c.6929C>A (p.Thr2310Asn) c.3275C>A (p.Thr1092Asn) c.7169C>A (p.Thr2390Asn) c.7160C>A (p.Thr2387Asn) c.7175C>A (p.Thr2392Asn) c.1472C>A (p.Thr491Asn) | |
| X | g.31819987T>A | CA412658472 | DMD | c.2143A>T (p.Thr715Ser) c.-84A>T (n.-84A>T) n.958A>T n.880A>T n.789A>T c.7297A>T (p.Thr2433Ser) c.3265A>T (p.Thr1089Ser) c.286A>T (p.Thr96Ser) c.385A>T (p.Thr129Ser) c.7285A>T (p.Thr2429Ser) c.66+16731A>T (n.66+16731A>T) c.7282A>T (p.Thr2428Ser) c.7294A>T (p.Thr2432Ser) c.7273A>T (p.Thr2425Ser) c.6928A>T (p.Thr2310Ser) c.3274A>T (p.Thr1092Ser) c.7168A>T (p.Thr2390Ser) c.7159A>T (p.Thr2387Ser) c.7174A>T (p.Thr2392Ser) c.1471A>T (p.Thr491Ser) | |
| X | g.31819987T>C | CA412658471 | DMD | c.2143A>G (p.Thr715Ala) c.-84A>G (n.-84A>G) n.958A>G n.880A>G n.789A>G c.7297A>G (p.Thr2433Ala) c.3265A>G (p.Thr1089Ala) c.286A>G (p.Thr96Ala) c.385A>G (p.Thr129Ala) c.7285A>G (p.Thr2429Ala) c.66+16731A>G (n.66+16731A>G) c.7282A>G (p.Thr2428Ala) c.7294A>G (p.Thr2432Ala) c.7273A>G (p.Thr2425Ala) c.6928A>G (p.Thr2310Ala) c.3274A>G (p.Thr1092Ala) c.7168A>G (p.Thr2390Ala) c.7159A>G (p.Thr2387Ala) c.7174A>G (p.Thr2392Ala) c.1471A>G (p.Thr491Ala) | gnomAD v4 |
| X | g.31819987T>G | CA412658470 | DMD | c.2143A>C (p.Thr715Pro) c.-84A>C (n.-84A>C) n.958A>C n.880A>C n.789A>C c.7297A>C (p.Thr2433Pro) c.3265A>C (p.Thr1089Pro) c.286A>C (p.Thr96Pro) c.385A>C (p.Thr129Pro) c.7285A>C (p.Thr2429Pro) c.66+16731A>C (n.66+16731A>C) c.7282A>C (p.Thr2428Pro) c.7294A>C (p.Thr2432Pro) c.7273A>C (p.Thr2425Pro) c.6928A>C (p.Thr2310Pro) c.3274A>C (p.Thr1092Pro) c.7168A>C (p.Thr2390Pro) c.7159A>C (p.Thr2387Pro) c.7174A>C (p.Thr2392Pro) c.1471A>C (p.Thr491Pro) | |
| X | g.31819987_31819989delinsTGG | CA2422564569 | DMD | c.2141_2143delinsCCA (p.Thr714=) c.-86_-84delinsCCA (n.-86_-84delinsCCA) n.956_958delinsCCA n.878_880delinsCCA n.787_789delinsCCA c.7295_7297delinsCCA (p.Thr2432=) c.3263_3265delinsCCA (p.Thr1088=) c.284_286delinsCCA (p.Thr95=) c.383_385delinsCCA (p.Thr128=) c.7283_7285delinsCCA (p.Thr2428=) c.66+16729_66+16731delinsCCA (n.66+16729_66+16731delinsCCA) c.7280_7282delinsCCA (p.Thr2427=) c.7292_7294delinsCCA (p.Thr2431=) c.7271_7273delinsCCA (p.Thr2424=) c.6926_6928delinsCCA (p.Thr2309=) c.3272_3274delinsCCA (p.Thr1091=) c.7166_7168delinsCCA (p.Thr2389=) c.7157_7159delinsCCA (p.Thr2386=) c.7172_7174delinsCCA (p.Thr2391=) c.1469_1471delinsCCA (p.Thr490=) | |
| X | g.31819988G>A | CA515859898 | DMD | c.2142C>T (p.Thr714=) c.-85C>T (n.-85C>T) n.957C>T n.879C>T n.788C>T c.7296C>T (p.Thr2432=) c.3264C>T (p.Thr1088=) c.285C>T (p.Thr95=) c.384C>T (p.Thr128=) c.7284C>T (p.Thr2428=) c.66+16730C>T (n.66+16730C>T) c.7281C>T (p.Thr2427=) c.7293C>T (p.Thr2431=) c.7272C>T (p.Thr2424=) c.6927C>T (p.Thr2309=) c.3273C>T (p.Thr1091=) c.7167C>T (p.Thr2389=) c.7158C>T (p.Thr2386=) c.7173C>T (p.Thr2391=) c.1470C>T (p.Thr490=) | gnomAD v4 |
| X | g.31819988G>C | CA515859899 | DMD | c.2142C>G (p.Thr714=) c.-85C>G (n.-85C>G) n.957C>G n.879C>G n.788C>G c.7296C>G (p.Thr2432=) c.3264C>G (p.Thr1088=) c.285C>G (p.Thr95=) c.384C>G (p.Thr128=) c.7284C>G (p.Thr2428=) c.66+16730C>G (n.66+16730C>G) c.7281C>G (p.Thr2427=) c.7293C>G (p.Thr2431=) c.7272C>G (p.Thr2424=) c.6927C>G (p.Thr2309=) c.3273C>G (p.Thr1091=) c.7167C>G (p.Thr2389=) c.7158C>G (p.Thr2386=) c.7173C>G (p.Thr2391=) c.1470C>G (p.Thr490=) | |
| X | g.31819988G>T | CA515859900 | DMD | c.2142C>A (p.Thr714=) c.-85C>A (n.-85C>A) n.957C>A n.879C>A n.788C>A c.7296C>A (p.Thr2432=) c.3264C>A (p.Thr1088=) c.285C>A (p.Thr95=) c.384C>A (p.Thr128=) c.7284C>A (p.Thr2428=) c.66+16730C>A (n.66+16730C>A) c.7281C>A (p.Thr2427=) c.7293C>A (p.Thr2431=) c.7272C>A (p.Thr2424=) c.6927C>A (p.Thr2309=) c.3273C>A (p.Thr1091=) c.7167C>A (p.Thr2389=) c.7158C>A (p.Thr2386=) c.7173C>A (p.Thr2391=) c.1470C>A (p.Thr490=) | gnomAD v4 |
| X | g.31819988_31819989del | CA275313 | DMD | c.2141_2142del (p.Thr714AsnfsTer20) c.-86_-85del (n.-86_-85del) n.956_957del n.878_879del n.787_788del c.7295_7296del (p.Thr2432AsnfsTer20) c.3263_3264del (p.Thr1088AsnfsTer20) c.284_285del (p.Thr95AsnfsTer20) c.383_384del (p.Thr128AsnfsTer20) c.7283_7284del (p.Thr2428AsnfsTer20) c.66+16729_66+16730del (n.66+16729_66+16730del) c.7280_7281del (p.Thr2427AsnfsTer20) c.7292_7293del (p.Thr2431AsnfsTer20) c.7271_7272del (p.Thr2424AsnfsTer20) c.6926_6927del (p.Thr2309AsnfsTer20) c.3272_3273del (p.Thr1091AsnfsTer20) c.7166_7167del (p.Thr2389AsnfsTer20) c.7157_7158del (p.Thr2386AsnfsTer20) c.7172_7173del (p.Thr2391AsnfsTer20) c.1469_1470del (p.Thr490AsnfsTer20) | ClinVar dbSNP |
| X | g.31819989del | CA2579579155 | DMD | c.2142del (p.Thr715LeufsTer13) c.-85del (n.-85del) n.957del n.879del n.788del c.7296del (p.Thr2433LeufsTer13) c.3264del (p.Thr1089LeufsTer13) c.285del (p.Thr96LeufsTer13) c.384del (p.Thr129LeufsTer13) c.7284del (p.Thr2429LeufsTer13) c.66+16730del (n.66+16730del) c.7281del (p.Thr2428LeufsTer13) c.7293del (p.Thr2432LeufsTer13) c.7272del (p.Thr2425LeufsTer13) c.6927del (p.Thr2310LeufsTer13) c.3273del (p.Thr1092LeufsTer13) c.7167del (p.Thr2390LeufsTer13) c.7158del (p.Thr2387LeufsTer13) c.7173del (p.Thr2392LeufsTer13) c.1470del (p.Thr491LeufsTer13) | |
| X | g.31819989_31819993del | CA2695233114 | DMD | c.2138_2142del (p.Leu713HisfsTer20) c.-89_-85del (n.-89_-85del) n.953_957del n.875_879del n.784_788del c.7292_7296del (p.Leu2431HisfsTer20) c.3260_3264del (p.Leu1087HisfsTer20) c.281_285del (p.Leu94HisfsTer20) c.380_384del (p.Leu127HisfsTer20) c.7280_7284del (p.Leu2427HisfsTer20) c.66+16726_66+16730del (n.66+16726_66+16730del) c.7277_7281del (p.Leu2426HisfsTer20) c.7289_7293del (p.Leu2430HisfsTer20) c.7268_7272del (p.Leu2423HisfsTer20) c.6923_6927del (p.Leu2308HisfsTer20) c.3269_3273del (p.Leu1090HisfsTer20) c.7163_7167del (p.Leu2388HisfsTer20) c.7154_7158del (p.Leu2385HisfsTer20) c.7169_7173del (p.Leu2390HisfsTer20) c.1466_1470del (p.Leu489HisfsTer20) | |
| X | g.31819989G>A | CA412658475 | DMD | c.2141C>T (p.Thr714Ile) c.-86C>T (n.-86C>T) n.956C>T n.878C>T n.787C>T c.7295C>T (p.Thr2432Ile) c.3263C>T (p.Thr1088Ile) c.284C>T (p.Thr95Ile) c.383C>T (p.Thr128Ile) c.7283C>T (p.Thr2428Ile) c.66+16729C>T (n.66+16729C>T) c.7280C>T (p.Thr2427Ile) c.7292C>T (p.Thr2431Ile) c.7271C>T (p.Thr2424Ile) c.6926C>T (p.Thr2309Ile) c.3272C>T (p.Thr1091Ile) c.7166C>T (p.Thr2389Ile) c.7157C>T (p.Thr2386Ile) c.7172C>T (p.Thr2391Ile) c.1469C>T (p.Thr490Ile) | COSMIC COSMIC COSMIC COSMIC |
| X | g.31819989G>C | CA412658473 | DMD | c.2141C>G (p.Thr714Ser) c.-86C>G (n.-86C>G) n.956C>G n.878C>G n.787C>G c.7295C>G (p.Thr2432Ser) c.3263C>G (p.Thr1088Ser) c.284C>G (p.Thr95Ser) c.383C>G (p.Thr128Ser) c.7283C>G (p.Thr2428Ser) c.66+16729C>G (n.66+16729C>G) c.7280C>G (p.Thr2427Ser) c.7292C>G (p.Thr2431Ser) c.7271C>G (p.Thr2424Ser) c.6926C>G (p.Thr2309Ser) c.3272C>G (p.Thr1091Ser) c.7166C>G (p.Thr2389Ser) c.7157C>G (p.Thr2386Ser) c.7172C>G (p.Thr2391Ser) c.1469C>G (p.Thr490Ser) | |
| X | g.31819989G>T | CA412658474 | DMD | c.2141C>A (p.Thr714Asn) c.-86C>A (n.-86C>A) n.956C>A n.878C>A n.787C>A c.7295C>A (p.Thr2432Asn) c.3263C>A (p.Thr1088Asn) c.284C>A (p.Thr95Asn) c.383C>A (p.Thr128Asn) c.7283C>A (p.Thr2428Asn) c.66+16729C>A (n.66+16729C>A) c.7280C>A (p.Thr2427Asn) c.7292C>A (p.Thr2431Asn) c.7271C>A (p.Thr2424Asn) c.6926C>A (p.Thr2309Asn) c.3272C>A (p.Thr1091Asn) c.7166C>A (p.Thr2389Asn) c.7157C>A (p.Thr2386Asn) c.7172C>A (p.Thr2391Asn) c.1469C>A (p.Thr490Asn) | |
| X | g.31819990T>A | CA412658476 | DMD | c.2140A>T (p.Thr714Ser) c.-87A>T (n.-87A>T) n.955A>T n.877A>T n.786A>T c.7294A>T (p.Thr2432Ser) c.3262A>T (p.Thr1088Ser) c.283A>T (p.Thr95Ser) c.382A>T (p.Thr128Ser) c.7282A>T (p.Thr2428Ser) c.66+16728A>T (n.66+16728A>T) c.7279A>T (p.Thr2427Ser) c.7291A>T (p.Thr2431Ser) c.7270A>T (p.Thr2424Ser) c.6925A>T (p.Thr2309Ser) c.3271A>T (p.Thr1091Ser) c.7165A>T (p.Thr2389Ser) c.7156A>T (p.Thr2386Ser) c.7171A>T (p.Thr2391Ser) c.1468A>T (p.Thr490Ser) | |
| X | g.31819990T>C | CA412658477 | DMD | c.2140A>G (p.Thr714Ala) c.-87A>G (n.-87A>G) n.955A>G n.877A>G n.786A>G c.7294A>G (p.Thr2432Ala) c.3262A>G (p.Thr1088Ala) c.283A>G (p.Thr95Ala) c.382A>G (p.Thr128Ala) c.7282A>G (p.Thr2428Ala) c.66+16728A>G (n.66+16728A>G) c.7279A>G (p.Thr2427Ala) c.7291A>G (p.Thr2431Ala) c.7270A>G (p.Thr2424Ala) c.6925A>G (p.Thr2309Ala) c.3271A>G (p.Thr1091Ala) c.7165A>G (p.Thr2389Ala) c.7156A>G (p.Thr2386Ala) c.7171A>G (p.Thr2391Ala) c.1468A>G (p.Thr490Ala) | |
| X | g.31819990T>G | CA412658478 | DMD | c.2140A>C (p.Thr714Pro) c.-87A>C (n.-87A>C) n.955A>C n.877A>C n.786A>C c.7294A>C (p.Thr2432Pro) c.3262A>C (p.Thr1088Pro) c.283A>C (p.Thr95Pro) c.382A>C (p.Thr128Pro) c.7282A>C (p.Thr2428Pro) c.66+16728A>C (n.66+16728A>C) c.7279A>C (p.Thr2427Pro) c.7291A>C (p.Thr2431Pro) c.7270A>C (p.Thr2424Pro) c.6925A>C (p.Thr2309Pro) c.3271A>C (p.Thr1091Pro) c.7165A>C (p.Thr2389Pro) c.7156A>C (p.Thr2386Pro) c.7171A>C (p.Thr2391Pro) c.1468A>C (p.Thr490Pro) | |
| X | g.31819991C>A | CA515859901 | DMD | c.2139G>T (p.Leu713=) c.-88G>T (n.-88G>T) n.954G>T n.876G>T n.785G>T c.7293G>T (p.Leu2431=) c.3261G>T (p.Leu1087=) c.282G>T (p.Leu94=) c.381G>T (p.Leu127=) c.7281G>T (p.Leu2427=) c.66+16727G>T (n.66+16727G>T) c.7278G>T (p.Leu2426=) c.7290G>T (p.Leu2430=) c.7269G>T (p.Leu2423=) c.6924G>T (p.Leu2308=) c.3270G>T (p.Leu1090=) c.7164G>T (p.Leu2388=) c.7155G>T (p.Leu2385=) c.7170G>T (p.Leu2390=) c.1467G>T (p.Leu489=) | |
| X | g.31819991C>G | CA515859902 | DMD | c.2139G>C (p.Leu713=) c.-88G>C (n.-88G>C) n.954G>C n.876G>C n.785G>C c.7293G>C (p.Leu2431=) c.3261G>C (p.Leu1087=) c.282G>C (p.Leu94=) c.381G>C (p.Leu127=) c.7281G>C (p.Leu2427=) c.66+16727G>C (n.66+16727G>C) c.7278G>C (p.Leu2426=) c.7290G>C (p.Leu2430=) c.7269G>C (p.Leu2423=) c.6924G>C (p.Leu2308=) c.3270G>C (p.Leu1090=) c.7164G>C (p.Leu2388=) c.7155G>C (p.Leu2385=) c.7170G>C (p.Leu2390=) c.1467G>C (p.Leu489=) | |
| X | g.31819991C>T | CA515859903 | DMD | c.2139G>A (p.Leu713=) c.-88G>A (n.-88G>A) n.954G>A n.876G>A n.785G>A c.7293G>A (p.Leu2431=) c.3261G>A (p.Leu1087=) c.282G>A (p.Leu94=) c.381G>A (p.Leu127=) c.7281G>A (p.Leu2427=) c.66+16727G>A (n.66+16727G>A) c.7278G>A (p.Leu2426=) c.7290G>A (p.Leu2430=) c.7269G>A (p.Leu2423=) c.6924G>A (p.Leu2308=) c.3270G>A (p.Leu1090=) c.7164G>A (p.Leu2388=) c.7155G>A (p.Leu2385=) c.7170G>A (p.Leu2390=) c.1467G>A (p.Leu489=) | |
| X | g.31819992A>C | CA412658479 | DMD | c.2138T>G (p.Leu713Arg) c.-89T>G (n.-89T>G) n.953T>G n.875T>G n.784T>G c.7292T>G (p.Leu2431Arg) c.3260T>G (p.Leu1087Arg) c.281T>G (p.Leu94Arg) c.380T>G (p.Leu127Arg) c.7280T>G (p.Leu2427Arg) c.66+16726T>G (n.66+16726T>G) c.7277T>G (p.Leu2426Arg) c.7289T>G (p.Leu2430Arg) c.7268T>G (p.Leu2423Arg) c.6923T>G (p.Leu2308Arg) c.3269T>G (p.Leu1090Arg) c.7163T>G (p.Leu2388Arg) c.7154T>G (p.Leu2385Arg) c.7169T>G (p.Leu2390Arg) c.1466T>G (p.Leu489Arg) | |
| X | g.31819992A>G | CA412658480 | DMD | c.2138T>C (p.Leu713Pro) c.-89T>C (n.-89T>C) n.953T>C n.875T>C n.784T>C c.7292T>C (p.Leu2431Pro) c.3260T>C (p.Leu1087Pro) c.281T>C (p.Leu94Pro) c.380T>C (p.Leu127Pro) c.7280T>C (p.Leu2427Pro) c.66+16726T>C (n.66+16726T>C) c.7277T>C (p.Leu2426Pro) c.7289T>C (p.Leu2430Pro) c.7268T>C (p.Leu2423Pro) c.6923T>C (p.Leu2308Pro) c.3269T>C (p.Leu1090Pro) c.7163T>C (p.Leu2388Pro) c.7154T>C (p.Leu2385Pro) c.7169T>C (p.Leu2390Pro) c.1466T>C (p.Leu489Pro) | ClinVar |
| X | g.31819992A>T | CA412658481 | DMD | c.2138T>A (p.Leu713Gln) c.-89T>A (n.-89T>A) n.953T>A n.875T>A n.784T>A c.7292T>A (p.Leu2431Gln) c.3260T>A (p.Leu1087Gln) c.281T>A (p.Leu94Gln) c.380T>A (p.Leu127Gln) c.7280T>A (p.Leu2427Gln) c.66+16726T>A (n.66+16726T>A) c.7277T>A (p.Leu2426Gln) c.7289T>A (p.Leu2430Gln) c.7268T>A (p.Leu2423Gln) c.6923T>A (p.Leu2308Gln) c.3269T>A (p.Leu1090Gln) c.7163T>A (p.Leu2388Gln) c.7154T>A (p.Leu2385Gln) c.7169T>A (p.Leu2390Gln) c.1466T>A (p.Leu489Gln) | |
| X | g.31819993G>A | CA515859904 | DMD | c.2137C>T (p.Leu713=) c.-90C>T (n.-90C>T) n.952C>T n.874C>T n.783C>T c.7291C>T (p.Leu2431=) c.3259C>T (p.Leu1087=) c.280C>T (p.Leu94=) c.379C>T (p.Leu127=) c.7279C>T (p.Leu2427=) c.66+16725C>T (n.66+16725C>T) c.7276C>T (p.Leu2426=) c.7288C>T (p.Leu2430=) c.7267C>T (p.Leu2423=) c.6922C>T (p.Leu2308=) c.3268C>T (p.Leu1090=) c.7162C>T (p.Leu2388=) c.7153C>T (p.Leu2385=) c.7168C>T (p.Leu2390=) c.1465C>T (p.Leu489=) | dbSNP |
| X | g.31819993G>C | CA412658482 | DMD | c.2137C>G (p.Leu713Val) c.-90C>G (n.-90C>G) n.952C>G n.874C>G n.783C>G c.7291C>G (p.Leu2431Val) c.3259C>G (p.Leu1087Val) c.280C>G (p.Leu94Val) c.379C>G (p.Leu127Val) c.7279C>G (p.Leu2427Val) c.66+16725C>G (n.66+16725C>G) c.7276C>G (p.Leu2426Val) c.7288C>G (p.Leu2430Val) c.7267C>G (p.Leu2423Val) c.6922C>G (p.Leu2308Val) c.3268C>G (p.Leu1090Val) c.7162C>G (p.Leu2388Val) c.7153C>G (p.Leu2385Val) c.7168C>G (p.Leu2390Val) c.1465C>G (p.Leu489Val) | |
| X | g.31819993G= | CA2422564570 | DMD | c.2137C= (p.Leu713=) c.-90C= (n.-90C=) n.952C= n.874C= n.783C= c.7291C= (p.Leu2431=) c.3259C= (p.Leu1087=) c.280C= (p.Leu94=) c.379C= (p.Leu127=) c.7279C= (p.Leu2427=) c.66+16725C= (n.66+16725C=) c.7276C= (p.Leu2426=) c.7288C= (p.Leu2430=) c.7267C= (p.Leu2423=) c.6922C= (p.Leu2308=) c.3268C= (p.Leu1090=) c.7162C= (p.Leu2388=) c.7153C= (p.Leu2385=) c.7168C= (p.Leu2390=) c.1465C= (p.Leu489=) | |
| X | g.31819993G>T | CA412658483 | DMD | c.2137C>A (p.Leu713Met) c.-90C>A (n.-90C>A) n.952C>A n.874C>A n.783C>A c.7291C>A (p.Leu2431Met) c.3259C>A (p.Leu1087Met) c.280C>A (p.Leu94Met) c.379C>A (p.Leu127Met) c.7279C>A (p.Leu2427Met) c.66+16725C>A (n.66+16725C>A) c.7276C>A (p.Leu2426Met) c.7288C>A (p.Leu2430Met) c.7267C>A (p.Leu2423Met) c.6922C>A (p.Leu2308Met) c.3268C>A (p.Leu1090Met) c.7162C>A (p.Leu2388Met) c.7153C>A (p.Leu2385Met) c.7168C>A (p.Leu2390Met) c.1465C>A (p.Leu489Met) | |
| X | g.31819994T>A | CA515859905 | DMD | c.2136A>T (p.Gly712=) c.-91A>T (n.-91A>T) n.951A>T n.873A>T n.782A>T c.7290A>T (p.Gly2430=) c.3258A>T (p.Gly1086=) c.279A>T (p.Gly93=) c.378A>T (p.Gly126=) c.7278A>T (p.Gly2426=) c.66+16724A>T (n.66+16724A>T) c.7275A>T (p.Gly2425=) c.7287A>T (p.Gly2429=) c.7266A>T (p.Gly2422=) c.6921A>T (p.Gly2307=) c.3267A>T (p.Gly1089=) c.7161A>T (p.Gly2387=) c.7152A>T (p.Gly2384=) c.7167A>T (p.Gly2389=) c.1464A>T (p.Gly488=) | |
| X | g.31819994T>C | CA515859906 | DMD | c.2136A>G (p.Gly712=) c.-91A>G (n.-91A>G) n.951A>G n.873A>G n.782A>G c.7290A>G (p.Gly2430=) c.3258A>G (p.Gly1086=) c.279A>G (p.Gly93=) c.378A>G (p.Gly126=) c.7278A>G (p.Gly2426=) c.66+16724A>G (n.66+16724A>G) c.7275A>G (p.Gly2425=) c.7287A>G (p.Gly2429=) c.7266A>G (p.Gly2422=) c.6921A>G (p.Gly2307=) c.3267A>G (p.Gly1089=) c.7161A>G (p.Gly2387=) c.7152A>G (p.Gly2384=) c.7167A>G (p.Gly2389=) c.1464A>G (p.Gly488=) | ClinVar dbSNP gnomAD v4 |
| X | g.31819994T>G | CA515859907 | DMD | c.2136A>C (p.Gly712=) c.-91A>C (n.-91A>C) n.951A>C n.873A>C n.782A>C c.7290A>C (p.Gly2430=) c.3258A>C (p.Gly1086=) c.279A>C (p.Gly93=) c.378A>C (p.Gly126=) c.7278A>C (p.Gly2426=) c.66+16724A>C (n.66+16724A>C) c.7275A>C (p.Gly2425=) c.7287A>C (p.Gly2429=) c.7266A>C (p.Gly2422=) c.6921A>C (p.Gly2307=) c.3267A>C (p.Gly1089=) c.7161A>C (p.Gly2387=) c.7152A>C (p.Gly2384=) c.7167A>C (p.Gly2389=) c.1464A>C (p.Gly488=) | |
| X | g.31819994T= | CA2422564571 | DMD | c.2136A= (p.Gly712=) c.-91A= (n.-91A=) n.951A= n.873A= n.782A= c.7290A= (p.Gly2430=) c.3258A= (p.Gly1086=) c.279A= (p.Gly93=) c.378A= (p.Gly126=) c.7278A= (p.Gly2426=) c.66+16724A= (n.66+16724A=) c.7275A= (p.Gly2425=) c.7287A= (p.Gly2429=) c.7266A= (p.Gly2422=) c.6921A= (p.Gly2307=) c.3267A= (p.Gly1089=) c.7161A= (p.Gly2387=) c.7152A= (p.Gly2384=) c.7167A= (p.Gly2389=) c.1464A= (p.Gly488=) | |
| X | g.31819995C>A | CA412658484 | DMD | c.2135G>T (p.Gly712Val) c.-92G>T (n.-92G>T) n.950G>T n.872G>T n.781G>T c.7289G>T (p.Gly2430Val) c.3257G>T (p.Gly1086Val) c.278G>T (p.Gly93Val) c.377G>T (p.Gly126Val) c.7277G>T (p.Gly2426Val) c.66+16723G>T (n.66+16723G>T) c.7274G>T (p.Gly2425Val) c.7286G>T (p.Gly2429Val) c.7265G>T (p.Gly2422Val) c.6920G>T (p.Gly2307Val) c.3266G>T (p.Gly1089Val) c.7160G>T (p.Gly2387Val) c.7151G>T (p.Gly2384Val) c.7166G>T (p.Gly2389Val) c.1463G>T (p.Gly488Val) | |
| X | g.31819995C= | CA2422564572 | DMD | c.2135G= (p.Gly712=) c.-92G= (n.-92G=) n.950G= n.872G= n.781G= c.7289G= (p.Gly2430=) c.3257G= (p.Gly1086=) c.278G= (p.Gly93=) c.377G= (p.Gly126=) c.7277G= (p.Gly2426=) c.66+16723G= (n.66+16723G=) c.7274G= (p.Gly2425=) c.7286G= (p.Gly2429=) c.7265G= (p.Gly2422=) c.6920G= (p.Gly2307=) c.3266G= (p.Gly1089=) c.7160G= (p.Gly2387=) c.7151G= (p.Gly2384=) c.7166G= (p.Gly2389=) c.1463G= (p.Gly488=) | |
| X | g.31819995C>G | CA412658485 | DMD | c.2135G>C (p.Gly712Ala) c.-92G>C (n.-92G>C) n.950G>C n.872G>C n.781G>C c.7289G>C (p.Gly2430Ala) c.3257G>C (p.Gly1086Ala) c.278G>C (p.Gly93Ala) c.377G>C (p.Gly126Ala) c.7277G>C (p.Gly2426Ala) c.66+16723G>C (n.66+16723G>C) c.7274G>C (p.Gly2425Ala) c.7286G>C (p.Gly2429Ala) c.7265G>C (p.Gly2422Ala) c.6920G>C (p.Gly2307Ala) c.3266G>C (p.Gly1089Ala) c.7160G>C (p.Gly2387Ala) c.7151G>C (p.Gly2384Ala) c.7166G>C (p.Gly2389Ala) c.1463G>C (p.Gly488Ala) | dbSNP |
| X | g.31819995C>T | CA412658486 | DMD | c.2135G>A (p.Gly712Glu) c.-92G>A (n.-92G>A) n.950G>A n.872G>A n.781G>A c.7289G>A (p.Gly2430Glu) c.3257G>A (p.Gly1086Glu) c.278G>A (p.Gly93Glu) c.377G>A (p.Gly126Glu) c.7277G>A (p.Gly2426Glu) c.66+16723G>A (n.66+16723G>A) c.7274G>A (p.Gly2425Glu) c.7286G>A (p.Gly2429Glu) c.7265G>A (p.Gly2422Glu) c.6920G>A (p.Gly2307Glu) c.3266G>A (p.Gly1089Glu) c.7160G>A (p.Gly2387Glu) c.7151G>A (p.Gly2384Glu) c.7166G>A (p.Gly2389Glu) c.1463G>A (p.Gly488Glu) | |
| X | g.31819996C>A | CA412658488 | DMD | c.2134G>T (p.Gly712Ter) c.-93G>T (n.-93G>T) n.949G>T n.871G>T n.780G>T c.7288G>T (p.Gly2430Ter) c.3256G>T (p.Gly1086Ter) c.277G>T (p.Gly93Ter) c.376G>T (p.Gly126Ter) c.7276G>T (p.Gly2426Ter) c.66+16722G>T (n.66+16722G>T) c.7273G>T (p.Gly2425Ter) c.7285G>T (p.Gly2429Ter) c.7264G>T (p.Gly2422Ter) c.6919G>T (p.Gly2307Ter) c.3265G>T (p.Gly1089Ter) c.7159G>T (p.Gly2387Ter) c.7150G>T (p.Gly2384Ter) c.7165G>T (p.Gly2389Ter) c.1462G>T (p.Gly488Ter) | dbSNP |
| X | g.31819996C= | CA2422564573 | DMD | c.2134G= (p.Gly712=) c.-93G= (n.-93G=) n.949G= n.871G= n.780G= c.7288G= (p.Gly2430=) c.3256G= (p.Gly1086=) c.277G= (p.Gly93=) c.376G= (p.Gly126=) c.7276G= (p.Gly2426=) c.66+16722G= (n.66+16722G=) c.7273G= (p.Gly2425=) c.7285G= (p.Gly2429=) c.7264G= (p.Gly2422=) c.6919G= (p.Gly2307=) c.3265G= (p.Gly1089=) c.7159G= (p.Gly2387=) c.7150G= (p.Gly2384=) c.7165G= (p.Gly2389=) c.1462G= (p.Gly488=) | |
| X | g.31819996C>G | CA10604576 | DMD | c.2134G>C (p.Gly712Arg) c.-93G>C (n.-93G>C) n.949G>C n.871G>C n.780G>C c.7288G>C (p.Gly2430Arg) c.3256G>C (p.Gly1086Arg) c.277G>C (p.Gly93Arg) c.376G>C (p.Gly126Arg) c.7276G>C (p.Gly2426Arg) c.66+16722G>C (n.66+16722G>C) c.7273G>C (p.Gly2425Arg) c.7285G>C (p.Gly2429Arg) c.7264G>C (p.Gly2422Arg) c.6919G>C (p.Gly2307Arg) c.3265G>C (p.Gly1089Arg) c.7159G>C (p.Gly2387Arg) c.7150G>C (p.Gly2384Arg) c.7165G>C (p.Gly2389Arg) c.1462G>C (p.Gly488Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.31819996C>T | CA412658487 | DMD | c.2134G>A (p.Gly712Arg) c.-93G>A (n.-93G>A) n.949G>A n.871G>A n.780G>A c.7288G>A (p.Gly2430Arg) c.3256G>A (p.Gly1086Arg) c.277G>A (p.Gly93Arg) c.376G>A (p.Gly126Arg) c.7276G>A (p.Gly2426Arg) c.66+16722G>A (n.66+16722G>A) c.7273G>A (p.Gly2425Arg) c.7285G>A (p.Gly2429Arg) c.7264G>A (p.Gly2422Arg) c.6919G>A (p.Gly2307Arg) c.3265G>A (p.Gly1089Arg) c.7159G>A (p.Gly2387Arg) c.7150G>A (p.Gly2384Arg) c.7165G>A (p.Gly2389Arg) c.1462G>A (p.Gly488Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31819997A= | CA2422564574 | DMD | c.2133T= (p.Pro711=) c.-94T= (n.-94T=) n.948T= n.870T= n.779T= c.7287T= (p.Pro2429=) c.3255T= (p.Pro1085=) c.276T= (p.Pro92=) c.375T= (p.Pro125=) c.7275T= (p.Pro2425=) c.66+16721T= (n.66+16721T=) c.7272T= (p.Pro2424=) c.7284T= (p.Pro2428=) c.7263T= (p.Pro2421=) c.6918T= (p.Pro2306=) c.3264T= (p.Pro1088=) c.7158T= (p.Pro2386=) c.7149T= (p.Pro2383=) c.7164T= (p.Pro2388=) c.1461T= (p.Pro487=) | |
| X | g.31819997A>C | CA515859908 | DMD | c.2133T>G (p.Pro711=) c.-94T>G (n.-94T>G) n.948T>G n.870T>G n.779T>G c.7287T>G (p.Pro2429=) c.3255T>G (p.Pro1085=) c.276T>G (p.Pro92=) c.375T>G (p.Pro125=) c.7275T>G (p.Pro2425=) c.66+16721T>G (n.66+16721T>G) c.7272T>G (p.Pro2424=) c.7284T>G (p.Pro2428=) c.7263T>G (p.Pro2421=) c.6918T>G (p.Pro2306=) c.3264T>G (p.Pro1088=) c.7158T>G (p.Pro2386=) c.7149T>G (p.Pro2383=) c.7164T>G (p.Pro2388=) c.1461T>G (p.Pro487=) | |
| X | g.31819997A>G | CA515859909 | DMD | c.2133T>C (p.Pro711=) c.-94T>C (n.-94T>C) n.948T>C n.870T>C n.779T>C c.7287T>C (p.Pro2429=) c.3255T>C (p.Pro1085=) c.276T>C (p.Pro92=) c.375T>C (p.Pro125=) c.7275T>C (p.Pro2425=) c.66+16721T>C (n.66+16721T>C) c.7272T>C (p.Pro2424=) c.7284T>C (p.Pro2428=) c.7263T>C (p.Pro2421=) c.6918T>C (p.Pro2306=) c.3264T>C (p.Pro1088=) c.7158T>C (p.Pro2386=) c.7149T>C (p.Pro2383=) c.7164T>C (p.Pro2388=) c.1461T>C (p.Pro487=) | |
| X | g.31819997A>T | CA10378305 | DMD | c.2133T>A (p.Pro711=) c.-94T>A (n.-94T>A) n.948T>A n.870T>A n.779T>A c.7287T>A (p.Pro2429=) c.3255T>A (p.Pro1085=) c.276T>A (p.Pro92=) c.375T>A (p.Pro125=) c.7275T>A (p.Pro2425=) c.66+16721T>A (n.66+16721T>A) c.7272T>A (p.Pro2424=) c.7284T>A (p.Pro2428=) c.7263T>A (p.Pro2421=) c.6918T>A (p.Pro2306=) c.3264T>A (p.Pro1088=) c.7158T>A (p.Pro2386=) c.7149T>A (p.Pro2383=) c.7164T>A (p.Pro2388=) c.1461T>A (p.Pro487=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31819998G>A | CA412658489 | DMD | c.2132C>T (p.Pro711Leu) c.-95C>T (n.-95C>T) n.947C>T n.869C>T n.778C>T c.7286C>T (p.Pro2429Leu) c.3254C>T (p.Pro1085Leu) c.275C>T (p.Pro92Leu) c.374C>T (p.Pro125Leu) c.7274C>T (p.Pro2425Leu) c.66+16720C>T (n.66+16720C>T) c.7271C>T (p.Pro2424Leu) c.7283C>T (p.Pro2428Leu) c.7262C>T (p.Pro2421Leu) c.6917C>T (p.Pro2306Leu) c.3263C>T (p.Pro1088Leu) c.7157C>T (p.Pro2386Leu) c.7148C>T (p.Pro2383Leu) c.7163C>T (p.Pro2388Leu) c.1460C>T (p.Pro487Leu) | |
| X | g.31819998G>C | CA412658490 | DMD | c.2132C>G (p.Pro711Arg) c.-95C>G (n.-95C>G) n.947C>G n.869C>G n.778C>G c.7286C>G (p.Pro2429Arg) c.3254C>G (p.Pro1085Arg) c.275C>G (p.Pro92Arg) c.374C>G (p.Pro125Arg) c.7274C>G (p.Pro2425Arg) c.66+16720C>G (n.66+16720C>G) c.7271C>G (p.Pro2424Arg) c.7283C>G (p.Pro2428Arg) c.7262C>G (p.Pro2421Arg) c.6917C>G (p.Pro2306Arg) c.3263C>G (p.Pro1088Arg) c.7157C>G (p.Pro2386Arg) c.7148C>G (p.Pro2383Arg) c.7163C>G (p.Pro2388Arg) c.1460C>G (p.Pro487Arg) | gnomAD v4 |
| X | g.31819998G>T | CA412658491 | DMD | c.2132C>A (p.Pro711His) c.-95C>A (n.-95C>A) n.947C>A n.869C>A n.778C>A c.7286C>A (p.Pro2429His) c.3254C>A (p.Pro1085His) c.275C>A (p.Pro92His) c.374C>A (p.Pro125His) c.7274C>A (p.Pro2425His) c.66+16720C>A (n.66+16720C>A) c.7271C>A (p.Pro2424His) c.7283C>A (p.Pro2428His) c.7262C>A (p.Pro2421His) c.6917C>A (p.Pro2306His) c.3263C>A (p.Pro1088His) c.7157C>A (p.Pro2386His) c.7148C>A (p.Pro2383His) c.7163C>A (p.Pro2388His) c.1460C>A (p.Pro487His) | |
| X | g.31819999G>A | CA412658492 | DMD | c.2131C>T (p.Pro711Ser) c.-96C>T (n.-96C>T) n.946C>T n.868C>T n.777C>T c.7285C>T (p.Pro2429Ser) c.3253C>T (p.Pro1085Ser) c.274C>T (p.Pro92Ser) c.373C>T (p.Pro125Ser) c.7273C>T (p.Pro2425Ser) c.66+16719C>T (n.66+16719C>T) c.7270C>T (p.Pro2424Ser) c.7282C>T (p.Pro2428Ser) c.7261C>T (p.Pro2421Ser) c.6916C>T (p.Pro2306Ser) c.3262C>T (p.Pro1088Ser) c.7156C>T (p.Pro2386Ser) c.7147C>T (p.Pro2383Ser) c.7162C>T (p.Pro2388Ser) c.1459C>T (p.Pro487Ser) | |
| X | g.31819999G>C | CA412658493 | DMD | c.2131C>G (p.Pro711Ala) c.-96C>G (n.-96C>G) n.946C>G n.868C>G n.777C>G c.7285C>G (p.Pro2429Ala) c.3253C>G (p.Pro1085Ala) c.274C>G (p.Pro92Ala) c.373C>G (p.Pro125Ala) c.7273C>G (p.Pro2425Ala) c.66+16719C>G (n.66+16719C>G) c.7270C>G (p.Pro2424Ala) c.7282C>G (p.Pro2428Ala) c.7261C>G (p.Pro2421Ala) c.6916C>G (p.Pro2306Ala) c.3262C>G (p.Pro1088Ala) c.7156C>G (p.Pro2386Ala) c.7147C>G (p.Pro2383Ala) c.7162C>G (p.Pro2388Ala) c.1459C>G (p.Pro487Ala) | gnomAD v4 |
| X | g.31819999G>T | CA412658494 | DMD | c.2131C>A (p.Pro711Thr) c.-96C>A (n.-96C>A) n.946C>A n.868C>A n.777C>A c.7285C>A (p.Pro2429Thr) c.3253C>A (p.Pro1085Thr) c.274C>A (p.Pro92Thr) c.373C>A (p.Pro125Thr) c.7273C>A (p.Pro2425Thr) c.66+16719C>A (n.66+16719C>A) c.7270C>A (p.Pro2424Thr) c.7282C>A (p.Pro2428Thr) c.7261C>A (p.Pro2421Thr) c.6916C>A (p.Pro2306Thr) c.3262C>A (p.Pro1088Thr) c.7156C>A (p.Pro2386Thr) c.7147C>A (p.Pro2383Thr) c.7162C>A (p.Pro2388Thr) c.1459C>A (p.Pro487Thr) | |
| X | g.31820000A>C | CA515859910 | DMD | c.2130T>G (p.Ala710=) c.-97T>G (n.-97T>G) n.945T>G n.867T>G n.776T>G c.7284T>G (p.Ala2428=) c.3252T>G (p.Ala1084=) c.273T>G (p.Ala91=) c.372T>G (p.Ala124=) c.7272T>G (p.Ala2424=) c.66+16718T>G (n.66+16718T>G) c.7269T>G (p.Ala2423=) c.7281T>G (p.Ala2427=) c.7260T>G (p.Ala2420=) c.6915T>G (p.Ala2305=) c.3261T>G (p.Ala1087=) c.7155T>G (p.Ala2385=) c.7146T>G (p.Ala2382=) c.7161T>G (p.Ala2387=) c.1458T>G (p.Ala486=) | |
| X | g.31820000A>G | CA515859911 | DMD | c.2130T>C (p.Ala710=) c.-97T>C (n.-97T>C) n.945T>C n.867T>C n.776T>C c.7284T>C (p.Ala2428=) c.3252T>C (p.Ala1084=) c.273T>C (p.Ala91=) c.372T>C (p.Ala124=) c.7272T>C (p.Ala2424=) c.66+16718T>C (n.66+16718T>C) c.7269T>C (p.Ala2423=) c.7281T>C (p.Ala2427=) c.7260T>C (p.Ala2420=) c.6915T>C (p.Ala2305=) c.3261T>C (p.Ala1087=) c.7155T>C (p.Ala2385=) c.7146T>C (p.Ala2382=) c.7161T>C (p.Ala2387=) c.1458T>C (p.Ala486=) | |
| X | g.31820000A>T | CA515859912 | DMD | c.2130T>A (p.Ala710=) c.-97T>A (n.-97T>A) n.945T>A n.867T>A n.776T>A c.7284T>A (p.Ala2428=) c.3252T>A (p.Ala1084=) c.273T>A (p.Ala91=) c.372T>A (p.Ala124=) c.7272T>A (p.Ala2424=) c.66+16718T>A (n.66+16718T>A) c.7269T>A (p.Ala2423=) c.7281T>A (p.Ala2427=) c.7260T>A (p.Ala2420=) c.6915T>A (p.Ala2305=) c.3261T>A (p.Ala1087=) c.7155T>A (p.Ala2385=) c.7146T>A (p.Ala2382=) c.7161T>A (p.Ala2387=) c.1458T>A (p.Ala486=) | |
| X | g.31820001G>A | CA412658495 | DMD | c.2129C>T (p.Ala710Val) c.-98C>T (n.-98C>T) n.944C>T n.866C>T n.775C>T c.7283C>T (p.Ala2428Val) c.3251C>T (p.Ala1084Val) c.272C>T (p.Ala91Val) c.371C>T (p.Ala124Val) c.7271C>T (p.Ala2424Val) c.66+16717C>T (n.66+16717C>T) c.7268C>T (p.Ala2423Val) c.7280C>T (p.Ala2427Val) c.7259C>T (p.Ala2420Val) c.6914C>T (p.Ala2305Val) c.3260C>T (p.Ala1087Val) c.7154C>T (p.Ala2385Val) c.7145C>T (p.Ala2382Val) c.7160C>T (p.Ala2387Val) c.1457C>T (p.Ala486Val) | ClinVar |
| X | g.31820001G>C | CA412658496 | DMD | c.2129C>G (p.Ala710Gly) c.-98C>G (n.-98C>G) n.944C>G n.866C>G n.775C>G c.7283C>G (p.Ala2428Gly) c.3251C>G (p.Ala1084Gly) c.272C>G (p.Ala91Gly) c.371C>G (p.Ala124Gly) c.7271C>G (p.Ala2424Gly) c.66+16717C>G (n.66+16717C>G) c.7268C>G (p.Ala2423Gly) c.7280C>G (p.Ala2427Gly) c.7259C>G (p.Ala2420Gly) c.6914C>G (p.Ala2305Gly) c.3260C>G (p.Ala1087Gly) c.7154C>G (p.Ala2385Gly) c.7145C>G (p.Ala2382Gly) c.7160C>G (p.Ala2387Gly) c.1457C>G (p.Ala486Gly) | |
| X | g.31820001G= | CA2422564575 | DMD | c.2129C= (p.Ala710=) c.-98C= (n.-98C=) n.944C= n.866C= n.775C= c.7283C= (p.Ala2428=) c.3251C= (p.Ala1084=) c.272C= (p.Ala91=) c.371C= (p.Ala124=) c.7271C= (p.Ala2424=) c.66+16717C= (n.66+16717C=) c.7268C= (p.Ala2423=) c.7280C= (p.Ala2427=) c.7259C= (p.Ala2420=) c.6914C= (p.Ala2305=) c.3260C= (p.Ala1087=) c.7154C= (p.Ala2385=) c.7145C= (p.Ala2382=) c.7160C= (p.Ala2387=) c.1457C= (p.Ala486=) | |
| X | g.31820001G>T | CA10378306 | DMD | c.2129C>A (p.Ala710Asp) c.-98C>A (n.-98C>A) n.944C>A n.866C>A n.775C>A c.7283C>A (p.Ala2428Asp) c.3251C>A (p.Ala1084Asp) c.272C>A (p.Ala91Asp) c.371C>A (p.Ala124Asp) c.7271C>A (p.Ala2424Asp) c.66+16717C>A (n.66+16717C>A) c.7268C>A (p.Ala2423Asp) c.7280C>A (p.Ala2427Asp) c.7259C>A (p.Ala2420Asp) c.6914C>A (p.Ala2305Asp) c.3260C>A (p.Ala1087Asp) c.7154C>A (p.Ala2385Asp) c.7145C>A (p.Ala2382Asp) c.7160C>A (p.Ala2387Asp) c.1457C>A (p.Ala486Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31820002C>A | CA412658497 | DMD | c.2128G>T (p.Ala710Ser) c.-99G>T (n.-99G>T) n.943G>T n.865G>T n.774G>T c.7282G>T (p.Ala2428Ser) c.3250G>T (p.Ala1084Ser) c.271G>T (p.Ala91Ser) c.370G>T (p.Ala124Ser) c.7270G>T (p.Ala2424Ser) c.66+16716G>T (n.66+16716G>T) c.7267G>T (p.Ala2423Ser) c.7279G>T (p.Ala2427Ser) c.7258G>T (p.Ala2420Ser) c.6913G>T (p.Ala2305Ser) c.3259G>T (p.Ala1087Ser) c.7153G>T (p.Ala2385Ser) c.7144G>T (p.Ala2382Ser) c.7159G>T (p.Ala2387Ser) c.1456G>T (p.Ala486Ser) | |
| X | g.31820002C= | CA2422564576 | DMD | c.2128G= (p.Ala710=) c.-99G= (n.-99G=) n.943G= n.865G= n.774G= c.7282G= (p.Ala2428=) c.3250G= (p.Ala1084=) c.271G= (p.Ala91=) c.370G= (p.Ala124=) c.7270G= (p.Ala2424=) c.66+16716G= (n.66+16716G=) c.7267G= (p.Ala2423=) c.7279G= (p.Ala2427=) c.7258G= (p.Ala2420=) c.6913G= (p.Ala2305=) c.3259G= (p.Ala1087=) c.7153G= (p.Ala2385=) c.7144G= (p.Ala2382=) c.7159G= (p.Ala2387=) c.1456G= (p.Ala486=) | |
| X | g.31820002C>G | CA412658498 | DMD | c.2128G>C (p.Ala710Pro) c.-99G>C (n.-99G>C) n.943G>C n.865G>C n.774G>C c.7282G>C (p.Ala2428Pro) c.3250G>C (p.Ala1084Pro) c.271G>C (p.Ala91Pro) c.370G>C (p.Ala124Pro) c.7270G>C (p.Ala2424Pro) c.66+16716G>C (n.66+16716G>C) c.7267G>C (p.Ala2423Pro) c.7279G>C (p.Ala2427Pro) c.7258G>C (p.Ala2420Pro) c.6913G>C (p.Ala2305Pro) c.3259G>C (p.Ala1087Pro) c.7153G>C (p.Ala2385Pro) c.7144G>C (p.Ala2382Pro) c.7159G>C (p.Ala2387Pro) c.1456G>C (p.Ala486Pro) | COSMIC COSMIC COSMIC COSMIC |
| X | g.31820002C>T | CA412658499 | DMD | c.2128G>A (p.Ala710Thr) c.-99G>A (n.-99G>A) n.943G>A n.865G>A n.774G>A c.7282G>A (p.Ala2428Thr) c.3250G>A (p.Ala1084Thr) c.271G>A (p.Ala91Thr) c.370G>A (p.Ala124Thr) c.7270G>A (p.Ala2424Thr) c.66+16716G>A (n.66+16716G>A) c.7267G>A (p.Ala2423Thr) c.7279G>A (p.Ala2427Thr) c.7258G>A (p.Ala2420Thr) c.6913G>A (p.Ala2305Thr) c.3259G>A (p.Ala1087Thr) c.7153G>A (p.Ala2385Thr) c.7144G>A (p.Ala2382Thr) c.7159G>A (p.Ala2387Thr) c.1456G>A (p.Ala486Thr) | dbSNP gnomAD v4 |
| X | g.31820003T>A | CA515859913 | DMD | c.2127A>T (p.Leu709=) c.-100A>T (n.-100A>T) n.942A>T n.864A>T n.773A>T c.7281A>T (p.Leu2427=) c.3249A>T (p.Leu1083=) c.270A>T (p.Leu90=) c.369A>T (p.Leu123=) c.7269A>T (p.Leu2423=) c.66+16715A>T (n.66+16715A>T) c.7266A>T (p.Leu2422=) c.7278A>T (p.Leu2426=) c.7257A>T (p.Leu2419=) c.6912A>T (p.Leu2304=) c.3258A>T (p.Leu1086=) c.7152A>T (p.Leu2384=) c.7143A>T (p.Leu2381=) c.7158A>T (p.Leu2386=) c.1455A>T (p.Leu485=) | ClinVar dbSNP gnomAD v4 |
| X | g.31820003T>C | CA10587976 | DMD | c.2127A>G (p.Leu709=) c.-100A>G (n.-100A>G) n.942A>G n.864A>G n.773A>G c.7281A>G (p.Leu2427=) c.3249A>G (p.Leu1083=) c.270A>G (p.Leu90=) c.369A>G (p.Leu123=) c.7269A>G (p.Leu2423=) c.66+16715A>G (n.66+16715A>G) c.7266A>G (p.Leu2422=) c.7278A>G (p.Leu2426=) c.7257A>G (p.Leu2419=) c.6912A>G (p.Leu2304=) c.3258A>G (p.Leu1086=) c.7152A>G (p.Leu2384=) c.7143A>G (p.Leu2381=) c.7158A>G (p.Leu2386=) c.1455A>G (p.Leu485=) | ClinVar dbSNP |
| X | g.31820003T>G | CA515859914 | DMD | c.2127A>C (p.Leu709=) c.-100A>C (n.-100A>C) n.942A>C n.864A>C n.773A>C c.7281A>C (p.Leu2427=) c.3249A>C (p.Leu1083=) c.270A>C (p.Leu90=) c.369A>C (p.Leu123=) c.7269A>C (p.Leu2423=) c.66+16715A>C (n.66+16715A>C) c.7266A>C (p.Leu2422=) c.7278A>C (p.Leu2426=) c.7257A>C (p.Leu2419=) c.6912A>C (p.Leu2304=) c.3258A>C (p.Leu1086=) c.7152A>C (p.Leu2384=) c.7143A>C (p.Leu2381=) c.7158A>C (p.Leu2386=) c.1455A>C (p.Leu485=) | |
| X | g.31820003T= | CA2422564577 | DMD | c.2127A= (p.Leu709=) c.-100A= (n.-100A=) n.942A= n.864A= n.773A= c.7281A= (p.Leu2427=) c.3249A= (p.Leu1083=) c.270A= (p.Leu90=) c.369A= (p.Leu123=) c.7269A= (p.Leu2423=) c.66+16715A= (n.66+16715A=) c.7266A= (p.Leu2422=) c.7278A= (p.Leu2426=) c.7257A= (p.Leu2419=) c.6912A= (p.Leu2304=) c.3258A= (p.Leu1086=) c.7152A= (p.Leu2384=) c.7143A= (p.Leu2381=) c.7158A= (p.Leu2386=) c.1455A= (p.Leu485=) | |
| X | g.31820004A>C | CA412658502 | DMD | c.2126T>G (p.Leu709Arg) c.-101T>G (n.-101T>G) n.941T>G n.863T>G n.772T>G c.7280T>G (p.Leu2427Arg) c.3248T>G (p.Leu1083Arg) c.269T>G (p.Leu90Arg) c.368T>G (p.Leu123Arg) c.7268T>G (p.Leu2423Arg) c.66+16714T>G (n.66+16714T>G) c.7265T>G (p.Leu2422Arg) c.7277T>G (p.Leu2426Arg) c.7256T>G (p.Leu2419Arg) c.6911T>G (p.Leu2304Arg) c.3257T>G (p.Leu1086Arg) c.7151T>G (p.Leu2384Arg) c.7142T>G (p.Leu2381Arg) c.7157T>G (p.Leu2386Arg) c.1454T>G (p.Leu485Arg) | |
| X | g.31820004A>G | CA412658500 | DMD | c.2126T>C (p.Leu709Pro) c.-101T>C (n.-101T>C) n.941T>C n.863T>C n.772T>C c.7280T>C (p.Leu2427Pro) c.3248T>C (p.Leu1083Pro) c.269T>C (p.Leu90Pro) c.368T>C (p.Leu123Pro) c.7268T>C (p.Leu2423Pro) c.66+16714T>C (n.66+16714T>C) c.7265T>C (p.Leu2422Pro) c.7277T>C (p.Leu2426Pro) c.7256T>C (p.Leu2419Pro) c.6911T>C (p.Leu2304Pro) c.3257T>C (p.Leu1086Pro) c.7151T>C (p.Leu2384Pro) c.7142T>C (p.Leu2381Pro) c.7157T>C (p.Leu2386Pro) c.1454T>C (p.Leu485Pro) | |
| X | g.31820004A>T | CA412658501 | DMD | c.2126T>A (p.Leu709Gln) c.-101T>A (n.-101T>A) n.941T>A n.863T>A n.772T>A c.7280T>A (p.Leu2427Gln) c.3248T>A (p.Leu1083Gln) c.269T>A (p.Leu90Gln) c.368T>A (p.Leu123Gln) c.7268T>A (p.Leu2423Gln) c.66+16714T>A (n.66+16714T>A) c.7265T>A (p.Leu2422Gln) c.7277T>A (p.Leu2426Gln) c.7256T>A (p.Leu2419Gln) c.6911T>A (p.Leu2304Gln) c.3257T>A (p.Leu1086Gln) c.7151T>A (p.Leu2384Gln) c.7142T>A (p.Leu2381Gln) c.7157T>A (p.Leu2386Gln) c.1454T>A (p.Leu485Gln) | |
| X | g.31820005G>A | CA515859915 | DMD | c.2125C>T (p.Leu709=) c.-102C>T (n.-102C>T) n.940C>T n.862C>T n.771C>T c.7279C>T (p.Leu2427=) c.3247C>T (p.Leu1083=) c.268C>T (p.Leu90=) c.367C>T (p.Leu123=) c.7267C>T (p.Leu2423=) c.66+16713C>T (n.66+16713C>T) c.7264C>T (p.Leu2422=) c.7276C>T (p.Leu2426=) c.7255C>T (p.Leu2419=) c.6910C>T (p.Leu2304=) c.3256C>T (p.Leu1086=) c.7150C>T (p.Leu2384=) c.7141C>T (p.Leu2381=) c.7156C>T (p.Leu2386=) c.1453C>T (p.Leu485=) | |
| X | g.31820005G>C | CA412658503 | DMD | c.2125C>G (p.Leu709Val) c.-102C>G (n.-102C>G) n.940C>G n.862C>G n.771C>G c.7279C>G (p.Leu2427Val) c.3247C>G (p.Leu1083Val) c.268C>G (p.Leu90Val) c.367C>G (p.Leu123Val) c.7267C>G (p.Leu2423Val) c.66+16713C>G (n.66+16713C>G) c.7264C>G (p.Leu2422Val) c.7276C>G (p.Leu2426Val) c.7255C>G (p.Leu2419Val) c.6910C>G (p.Leu2304Val) c.3256C>G (p.Leu1086Val) c.7150C>G (p.Leu2384Val) c.7141C>G (p.Leu2381Val) c.7156C>G (p.Leu2386Val) c.1453C>G (p.Leu485Val) | |
| X | g.31820005G>T | CA412658504 | DMD | c.2125C>A (p.Leu709Ile) c.-102C>A (n.-102C>A) n.940C>A n.862C>A n.771C>A c.7279C>A (p.Leu2427Ile) c.3247C>A (p.Leu1083Ile) c.268C>A (p.Leu90Ile) c.367C>A (p.Leu123Ile) c.7267C>A (p.Leu2423Ile) c.66+16713C>A (n.66+16713C>A) c.7264C>A (p.Leu2422Ile) c.7276C>A (p.Leu2426Ile) c.7255C>A (p.Leu2419Ile) c.6910C>A (p.Leu2304Ile) c.3256C>A (p.Leu1086Ile) c.7150C>A (p.Leu2384Ile) c.7141C>A (p.Leu2381Ile) c.7156C>A (p.Leu2386Ile) c.1453C>A (p.Leu485Ile) | |
| X | g.31820006del | CA2695233116 | DMD | c.2125del (p.Leu709Ter) c.-102del (n.-102del) n.940del n.862del n.771del c.7279del (p.Leu2427Ter) c.3247del (p.Leu1083Ter) c.268del (p.Leu90Ter) c.367del (p.Leu123Ter) c.7267del (p.Leu2423Ter) c.66+16713del (n.66+16713del) c.7264del (p.Leu2422Ter) c.7276del (p.Leu2426Ter) c.7255del (p.Leu2419Ter) c.6910del (p.Leu2304Ter) c.3256del (p.Leu1086Ter) c.7150del (p.Leu2384Ter) c.7141del (p.Leu2381Ter) c.7156del (p.Leu2386Ter) c.1453del (p.Leu485Ter) | |
| X | g.31820006G>A | CA515859916 | DMD | c.2124C>T (p.Asp708=) c.-103C>T (n.-103C>T) n.939C>T n.861C>T n.770C>T c.7278C>T (p.Asp2426=) c.3246C>T (p.Asp1082=) c.267C>T (p.Asp89=) c.366C>T (p.Asp122=) c.7266C>T (p.Asp2422=) c.66+16712C>T (n.66+16712C>T) c.7263C>T (p.Asp2421=) c.7275C>T (p.Asp2425=) c.7254C>T (p.Asp2418=) c.6909C>T (p.Asp2303=) c.3255C>T (p.Asp1085=) c.7149C>T (p.Asp2383=) c.7140C>T (p.Asp2380=) c.7155C>T (p.Asp2385=) c.1452C>T (p.Asp484=) | ClinVar gnomAD v4 |
| X | g.31820006G>C | CA412658505 | DMD | c.2124C>G (p.Asp708Glu) c.-103C>G (n.-103C>G) n.939C>G n.861C>G n.770C>G c.7278C>G (p.Asp2426Glu) c.3246C>G (p.Asp1082Glu) c.267C>G (p.Asp89Glu) c.366C>G (p.Asp122Glu) c.7266C>G (p.Asp2422Glu) c.66+16712C>G (n.66+16712C>G) c.7263C>G (p.Asp2421Glu) c.7275C>G (p.Asp2425Glu) c.7254C>G (p.Asp2418Glu) c.6909C>G (p.Asp2303Glu) c.3255C>G (p.Asp1085Glu) c.7149C>G (p.Asp2383Glu) c.7140C>G (p.Asp2380Glu) c.7155C>G (p.Asp2385Glu) c.1452C>G (p.Asp484Glu) | |
| X | g.31820006G>T | CA412658506 | DMD | c.2124C>A (p.Asp708Glu) c.-103C>A (n.-103C>A) n.939C>A n.861C>A n.770C>A c.7278C>A (p.Asp2426Glu) c.3246C>A (p.Asp1082Glu) c.267C>A (p.Asp89Glu) c.366C>A (p.Asp122Glu) c.7266C>A (p.Asp2422Glu) c.66+16712C>A (n.66+16712C>A) c.7263C>A (p.Asp2421Glu) c.7275C>A (p.Asp2425Glu) c.7254C>A (p.Asp2418Glu) c.6909C>A (p.Asp2303Glu) c.3255C>A (p.Asp1085Glu) c.7149C>A (p.Asp2383Glu) c.7140C>A (p.Asp2380Glu) c.7155C>A (p.Asp2385Glu) c.1452C>A (p.Asp484Glu) | |
| X | g.31820007T>A | CA412658507 | DMD | c.2123A>T (p.Asp708Val) c.-104A>T (n.-104A>T) n.938A>T n.860A>T n.769A>T c.7277A>T (p.Asp2426Val) c.3245A>T (p.Asp1082Val) c.266A>T (p.Asp89Val) c.365A>T (p.Asp122Val) c.7265A>T (p.Asp2422Val) c.66+16711A>T (n.66+16711A>T) c.7262A>T (p.Asp2421Val) c.7274A>T (p.Asp2425Val) c.7253A>T (p.Asp2418Val) c.6908A>T (p.Asp2303Val) c.3254A>T (p.Asp1085Val) c.7148A>T (p.Asp2383Val) c.7139A>T (p.Asp2380Val) c.7154A>T (p.Asp2385Val) c.1451A>T (p.Asp484Val) | |
| X | g.31820007T>C | CA412658508 | DMD | c.2123A>G (p.Asp708Gly) c.-104A>G (n.-104A>G) n.938A>G n.860A>G n.769A>G c.7277A>G (p.Asp2426Gly) c.3245A>G (p.Asp1082Gly) c.266A>G (p.Asp89Gly) c.365A>G (p.Asp122Gly) c.7265A>G (p.Asp2422Gly) c.66+16711A>G (n.66+16711A>G) c.7262A>G (p.Asp2421Gly) c.7274A>G (p.Asp2425Gly) c.7253A>G (p.Asp2418Gly) c.6908A>G (p.Asp2303Gly) c.3254A>G (p.Asp1085Gly) c.7148A>G (p.Asp2383Gly) c.7139A>G (p.Asp2380Gly) c.7154A>G (p.Asp2385Gly) c.1451A>G (p.Asp484Gly) | ClinVar |
| X | g.31820007T>G | CA412658509 | DMD | c.2123A>C (p.Asp708Ala) c.-104A>C (n.-104A>C) n.938A>C n.860A>C n.769A>C c.7277A>C (p.Asp2426Ala) c.3245A>C (p.Asp1082Ala) c.266A>C (p.Asp89Ala) c.365A>C (p.Asp122Ala) c.7265A>C (p.Asp2422Ala) c.66+16711A>C (n.66+16711A>C) c.7262A>C (p.Asp2421Ala) c.7274A>C (p.Asp2425Ala) c.7253A>C (p.Asp2418Ala) c.6908A>C (p.Asp2303Ala) c.3254A>C (p.Asp1085Ala) c.7148A>C (p.Asp2383Ala) c.7139A>C (p.Asp2380Ala) c.7154A>C (p.Asp2385Ala) c.1451A>C (p.Asp484Ala) | |
| X | g.31820008C>A | CA412658510 | DMD | c.2122G>T (p.Asp708Tyr) c.-105G>T (n.-105G>T) n.937G>T n.859G>T n.768G>T c.7276G>T (p.Asp2426Tyr) c.3244G>T (p.Asp1082Tyr) c.265G>T (p.Asp89Tyr) c.364G>T (p.Asp122Tyr) c.7264G>T (p.Asp2422Tyr) c.66+16710G>T (n.66+16710G>T) c.7261G>T (p.Asp2421Tyr) c.7273G>T (p.Asp2425Tyr) c.7252G>T (p.Asp2418Tyr) c.6907G>T (p.Asp2303Tyr) c.3253G>T (p.Asp1085Tyr) c.7147G>T (p.Asp2383Tyr) c.7138G>T (p.Asp2380Tyr) c.7153G>T (p.Asp2385Tyr) c.1450G>T (p.Asp484Tyr) | COSMIC COSMIC COSMIC COSMIC |
| X | g.31820008C>G | CA412658511 | DMD | c.2122G>C (p.Asp708His) c.-105G>C (n.-105G>C) n.937G>C n.859G>C n.768G>C c.7276G>C (p.Asp2426His) c.3244G>C (p.Asp1082His) c.265G>C (p.Asp89His) c.364G>C (p.Asp122His) c.7264G>C (p.Asp2422His) c.66+16710G>C (n.66+16710G>C) c.7261G>C (p.Asp2421His) c.7273G>C (p.Asp2425His) c.7252G>C (p.Asp2418His) c.6907G>C (p.Asp2303His) c.3253G>C (p.Asp1085His) c.7147G>C (p.Asp2383His) c.7138G>C (p.Asp2380His) c.7153G>C (p.Asp2385His) c.1450G>C (p.Asp484His) | |
| X | g.31820008C>T | CA412658512 | DMD | c.2122G>A (p.Asp708Asn) c.-105G>A (n.-105G>A) n.937G>A n.859G>A n.768G>A c.7276G>A (p.Asp2426Asn) c.3244G>A (p.Asp1082Asn) c.265G>A (p.Asp89Asn) c.364G>A (p.Asp122Asn) c.7264G>A (p.Asp2422Asn) c.66+16710G>A (n.66+16710G>A) c.7261G>A (p.Asp2421Asn) c.7273G>A (p.Asp2425Asn) c.7252G>A (p.Asp2418Asn) c.6907G>A (p.Asp2303Asn) c.3253G>A (p.Asp1085Asn) c.7147G>A (p.Asp2383Asn) c.7138G>A (p.Asp2380Asn) c.7153G>A (p.Asp2385Asn) c.1450G>A (p.Asp484Asn) | |
| X | g.31820009A>C | CA515859917 | DMD | c.2121T>G (p.Pro707=) c.-106T>G (n.-106T>G) n.936T>G n.858T>G n.767T>G c.7275T>G (p.Pro2425=) c.3243T>G (p.Pro1081=) c.264T>G (p.Pro88=) c.363T>G (p.Pro121=) c.7263T>G (p.Pro2421=) c.66+16709T>G (n.66+16709T>G) c.7260T>G (p.Pro2420=) c.7272T>G (p.Pro2424=) c.7251T>G (p.Pro2417=) c.6906T>G (p.Pro2302=) c.3252T>G (p.Pro1084=) c.7146T>G (p.Pro2382=) c.7137T>G (p.Pro2379=) c.7152T>G (p.Pro2384=) c.1449T>G (p.Pro483=) | |
| X | g.31820009A>G | CA515859918 | DMD | c.2121T>C (p.Pro707=) c.-106T>C (n.-106T>C) n.936T>C n.858T>C n.767T>C c.7275T>C (p.Pro2425=) c.3243T>C (p.Pro1081=) c.264T>C (p.Pro88=) c.363T>C (p.Pro121=) c.7263T>C (p.Pro2421=) c.66+16709T>C (n.66+16709T>C) c.7260T>C (p.Pro2420=) c.7272T>C (p.Pro2424=) c.7251T>C (p.Pro2417=) c.6906T>C (p.Pro2302=) c.3252T>C (p.Pro1084=) c.7146T>C (p.Pro2382=) c.7137T>C (p.Pro2379=) c.7152T>C (p.Pro2384=) c.1449T>C (p.Pro483=) | |
| X | g.31820009A>T | CA515859919 | DMD | c.2121T>A (p.Pro707=) c.-106T>A (n.-106T>A) n.936T>A n.858T>A n.767T>A c.7275T>A (p.Pro2425=) c.3243T>A (p.Pro1081=) c.264T>A (p.Pro88=) c.363T>A (p.Pro121=) c.7263T>A (p.Pro2421=) c.66+16709T>A (n.66+16709T>A) c.7260T>A (p.Pro2420=) c.7272T>A (p.Pro2424=) c.7251T>A (p.Pro2417=) c.6906T>A (p.Pro2302=) c.3252T>A (p.Pro1084=) c.7146T>A (p.Pro2382=) c.7137T>A (p.Pro2379=) c.7152T>A (p.Pro2384=) c.1449T>A (p.Pro483=) | |
| X | g.31820010G>A | CA412658514 | DMD | c.2120C>T (p.Pro707Leu) c.-107C>T (n.-107C>T) n.935C>T n.857C>T n.766C>T c.7274C>T (p.Pro2425Leu) c.3242C>T (p.Pro1081Leu) c.263C>T (p.Pro88Leu) c.362C>T (p.Pro121Leu) c.7262C>T (p.Pro2421Leu) c.66+16708C>T (n.66+16708C>T) c.7259C>T (p.Pro2420Leu) c.7271C>T (p.Pro2424Leu) c.7250C>T (p.Pro2417Leu) c.6905C>T (p.Pro2302Leu) c.3251C>T (p.Pro1084Leu) c.7145C>T (p.Pro2382Leu) c.7136C>T (p.Pro2379Leu) c.7151C>T (p.Pro2384Leu) c.1448C>T (p.Pro483Leu) | |
| X | g.31820010G>C | CA412658515 | DMD | c.2120C>G (p.Pro707Arg) c.-107C>G (n.-107C>G) n.935C>G n.857C>G n.766C>G c.7274C>G (p.Pro2425Arg) c.3242C>G (p.Pro1081Arg) c.263C>G (p.Pro88Arg) c.362C>G (p.Pro121Arg) c.7262C>G (p.Pro2421Arg) c.66+16708C>G (n.66+16708C>G) c.7259C>G (p.Pro2420Arg) c.7271C>G (p.Pro2424Arg) c.7250C>G (p.Pro2417Arg) c.6905C>G (p.Pro2302Arg) c.3251C>G (p.Pro1084Arg) c.7145C>G (p.Pro2382Arg) c.7136C>G (p.Pro2379Arg) c.7151C>G (p.Pro2384Arg) c.1448C>G (p.Pro483Arg) | gnomAD v4 |
| X | g.31820010G>T | CA412658513 | DMD | c.2120C>A (p.Pro707His) c.-107C>A (n.-107C>A) n.935C>A n.857C>A n.766C>A c.7274C>A (p.Pro2425His) c.3242C>A (p.Pro1081His) c.263C>A (p.Pro88His) c.362C>A (p.Pro121His) c.7262C>A (p.Pro2421His) c.66+16708C>A (n.66+16708C>A) c.7259C>A (p.Pro2420His) c.7271C>A (p.Pro2424His) c.7250C>A (p.Pro2417His) c.6905C>A (p.Pro2302His) c.3251C>A (p.Pro1084His) c.7145C>A (p.Pro2382His) c.7136C>A (p.Pro2379His) c.7151C>A (p.Pro2384His) c.1448C>A (p.Pro483His) | |
| X | g.31820011G>A | CA412658516 | DMD | c.2119C>T (p.Pro707Ser) c.-108C>T (n.-108C>T) n.934C>T n.856C>T n.765C>T c.7273C>T (p.Pro2425Ser) c.3241C>T (p.Pro1081Ser) c.262C>T (p.Pro88Ser) c.361C>T (p.Pro121Ser) c.7261C>T (p.Pro2421Ser) c.66+16707C>T (n.66+16707C>T) c.7258C>T (p.Pro2420Ser) c.7270C>T (p.Pro2424Ser) c.7249C>T (p.Pro2417Ser) c.6904C>T (p.Pro2302Ser) c.3250C>T (p.Pro1084Ser) c.7144C>T (p.Pro2382Ser) c.7135C>T (p.Pro2379Ser) c.7150C>T (p.Pro2384Ser) c.1447C>T (p.Pro483Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.31820011G>C | CA412658517 | DMD | c.2119C>G (p.Pro707Ala) c.-108C>G (n.-108C>G) n.934C>G n.856C>G n.765C>G c.7273C>G (p.Pro2425Ala) c.3241C>G (p.Pro1081Ala) c.262C>G (p.Pro88Ala) c.361C>G (p.Pro121Ala) c.7261C>G (p.Pro2421Ala) c.66+16707C>G (n.66+16707C>G) c.7258C>G (p.Pro2420Ala) c.7270C>G (p.Pro2424Ala) c.7249C>G (p.Pro2417Ala) c.6904C>G (p.Pro2302Ala) c.3250C>G (p.Pro1084Ala) c.7144C>G (p.Pro2382Ala) c.7135C>G (p.Pro2379Ala) c.7150C>G (p.Pro2384Ala) c.1447C>G (p.Pro483Ala) | |
| X | g.31820011G= | CA2422564578 | DMD | c.2119C= (p.Pro707=) c.-108C= (n.-108C=) n.934C= n.856C= n.765C= c.7273C= (p.Pro2425=) c.3241C= (p.Pro1081=) c.262C= (p.Pro88=) c.361C= (p.Pro121=) c.7261C= (p.Pro2421=) c.66+16707C= (n.66+16707C=) c.7258C= (p.Pro2420=) c.7270C= (p.Pro2424=) c.7249C= (p.Pro2417=) c.6904C= (p.Pro2302=) c.3250C= (p.Pro1084=) c.7144C= (p.Pro2382=) c.7135C= (p.Pro2379=) c.7150C= (p.Pro2384=) c.1447C= (p.Pro483=) | |
| X | g.31820011G>T | CA412658518 | DMD | c.2119C>A (p.Pro707Thr) c.-108C>A (n.-108C>A) n.934C>A n.856C>A n.765C>A c.7273C>A (p.Pro2425Thr) c.3241C>A (p.Pro1081Thr) c.262C>A (p.Pro88Thr) c.361C>A (p.Pro121Thr) c.7261C>A (p.Pro2421Thr) c.66+16707C>A (n.66+16707C>A) c.7258C>A (p.Pro2420Thr) c.7270C>A (p.Pro2424Thr) c.7249C>A (p.Pro2417Thr) c.6904C>A (p.Pro2302Thr) c.3250C>A (p.Pro1084Thr) c.7144C>A (p.Pro2382Thr) c.7135C>A (p.Pro2379Thr) c.7150C>A (p.Pro2384Thr) c.1447C>A (p.Pro483Thr) | |
| X | g.31820012C>A | CA412658519 | DMD | c.2118G>T (p.Gln706His) c.-109G>T (n.-109G>T) n.933G>T n.855G>T n.764G>T c.7272G>T (p.Gln2424His) c.3240G>T (p.Gln1080His) c.261G>T (p.Gln87His) c.360G>T (p.Gln120His) c.7260G>T (p.Gln2420His) c.66+16706G>T (n.66+16706G>T) c.7257G>T (p.Gln2419His) c.7269G>T (p.Gln2423His) c.7248G>T (p.Gln2416His) c.6903G>T (p.Gln2301His) c.3249G>T (p.Gln1083His) c.7143G>T (p.Gln2381His) c.7134G>T (p.Gln2378His) c.7149G>T (p.Gln2383His) c.1446G>T (p.Gln482His) | COSMIC COSMIC COSMIC COSMIC |
| X | g.31820012C= | CA2422564579 | DMD | c.2118G= (p.Gln706=) c.-109G= (n.-109G=) n.933G= n.855G= n.764G= c.7272G= (p.Gln2424=) c.3240G= (p.Gln1080=) c.261G= (p.Gln87=) c.360G= (p.Gln120=) c.7260G= (p.Gln2420=) c.66+16706G= (n.66+16706G=) c.7257G= (p.Gln2419=) c.7269G= (p.Gln2423=) c.7248G= (p.Gln2416=) c.6903G= (p.Gln2301=) c.3249G= (p.Gln1083=) c.7143G= (p.Gln2381=) c.7134G= (p.Gln2378=) c.7149G= (p.Gln2383=) c.1446G= (p.Gln482=) | |
| X | g.31820012C>G | CA412658520 | DMD | c.2118G>C (p.Gln706His) c.-109G>C (n.-109G>C) n.933G>C n.855G>C n.764G>C c.7272G>C (p.Gln2424His) c.3240G>C (p.Gln1080His) c.261G>C (p.Gln87His) c.360G>C (p.Gln120His) c.7260G>C (p.Gln2420His) c.66+16706G>C (n.66+16706G>C) c.7257G>C (p.Gln2419His) c.7269G>C (p.Gln2423His) c.7248G>C (p.Gln2416His) c.6903G>C (p.Gln2301His) c.3249G>C (p.Gln1083His) c.7143G>C (p.Gln2381His) c.7134G>C (p.Gln2378His) c.7149G>C (p.Gln2383His) c.1446G>C (p.Gln482His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31820012C>T | CA515859920 | DMD | c.2118G>A (p.Gln706=) c.-109G>A (n.-109G>A) n.933G>A n.855G>A n.764G>A c.7272G>A (p.Gln2424=) c.3240G>A (p.Gln1080=) c.261G>A (p.Gln87=) c.360G>A (p.Gln120=) c.7260G>A (p.Gln2420=) c.66+16706G>A (n.66+16706G>A) c.7257G>A (p.Gln2419=) c.7269G>A (p.Gln2423=) c.7248G>A (p.Gln2416=) c.6903G>A (p.Gln2301=) c.3249G>A (p.Gln1083=) c.7143G>A (p.Gln2381=) c.7134G>A (p.Gln2378=) c.7149G>A (p.Gln2383=) c.1446G>A (p.Gln482=) | |
| X | g.31820013T>A | CA412658523 | DMD | c.2117A>T (p.Gln706Leu) c.-110A>T (n.-110A>T) n.932A>T n.854A>T n.763A>T c.7271A>T (p.Gln2424Leu) c.3239A>T (p.Gln1080Leu) c.260A>T (p.Gln87Leu) c.359A>T (p.Gln120Leu) c.7259A>T (p.Gln2420Leu) c.66+16705A>T (n.66+16705A>T) c.7256A>T (p.Gln2419Leu) c.7268A>T (p.Gln2423Leu) c.7247A>T (p.Gln2416Leu) c.6902A>T (p.Gln2301Leu) c.3248A>T (p.Gln1083Leu) c.7142A>T (p.Gln2381Leu) c.7133A>T (p.Gln2378Leu) c.7148A>T (p.Gln2383Leu) c.1445A>T (p.Gln482Leu) | |
| X | g.31820013T>C | CA412658521 | DMD | c.2117A>G (p.Gln706Arg) c.-110A>G (n.-110A>G) n.932A>G n.854A>G n.763A>G c.7271A>G (p.Gln2424Arg) c.3239A>G (p.Gln1080Arg) c.260A>G (p.Gln87Arg) c.359A>G (p.Gln120Arg) c.7259A>G (p.Gln2420Arg) c.66+16705A>G (n.66+16705A>G) c.7256A>G (p.Gln2419Arg) c.7268A>G (p.Gln2423Arg) c.7247A>G (p.Gln2416Arg) c.6902A>G (p.Gln2301Arg) c.3248A>G (p.Gln1083Arg) c.7142A>G (p.Gln2381Arg) c.7133A>G (p.Gln2378Arg) c.7148A>G (p.Gln2383Arg) c.1445A>G (p.Gln482Arg) | |
| X | g.31820013T>G | CA412658522 | DMD | c.2117A>C (p.Gln706Pro) c.-110A>C (n.-110A>C) n.932A>C n.854A>C n.763A>C c.7271A>C (p.Gln2424Pro) c.3239A>C (p.Gln1080Pro) c.260A>C (p.Gln87Pro) c.359A>C (p.Gln120Pro) c.7259A>C (p.Gln2420Pro) c.66+16705A>C (n.66+16705A>C) c.7256A>C (p.Gln2419Pro) c.7268A>C (p.Gln2423Pro) c.7247A>C (p.Gln2416Pro) c.6902A>C (p.Gln2301Pro) c.3248A>C (p.Gln1083Pro) c.7142A>C (p.Gln2381Pro) c.7133A>C (p.Gln2378Pro) c.7148A>C (p.Gln2383Pro) c.1445A>C (p.Gln482Pro) | |
| X | g.31820014G>A | CA412658524 | DMD | c.2116C>T (p.Gln706Ter) c.-111C>T (n.-111C>T) n.931C>T n.853C>T n.762C>T c.7270C>T (p.Gln2424Ter) c.3238C>T (p.Gln1080Ter) c.259C>T (p.Gln87Ter) c.358C>T (p.Gln120Ter) c.7258C>T (p.Gln2420Ter) c.66+16704C>T (n.66+16704C>T) c.7255C>T (p.Gln2419Ter) c.7267C>T (p.Gln2423Ter) c.7246C>T (p.Gln2416Ter) c.6901C>T (p.Gln2301Ter) c.3247C>T (p.Gln1083Ter) c.7141C>T (p.Gln2381Ter) c.7132C>T (p.Gln2378Ter) c.7147C>T (p.Gln2383Ter) c.1444C>T (p.Gln482Ter) | |
| X | g.31820014G>C | CA412658525 | DMD | c.2116C>G (p.Gln706Glu) c.-111C>G (n.-111C>G) n.931C>G n.853C>G n.762C>G c.7270C>G (p.Gln2424Glu) c.3238C>G (p.Gln1080Glu) c.259C>G (p.Gln87Glu) c.358C>G (p.Gln120Glu) c.7258C>G (p.Gln2420Glu) c.66+16704C>G (n.66+16704C>G) c.7255C>G (p.Gln2419Glu) c.7267C>G (p.Gln2423Glu) c.7246C>G (p.Gln2416Glu) c.6901C>G (p.Gln2301Glu) c.3247C>G (p.Gln1083Glu) c.7141C>G (p.Gln2381Glu) c.7132C>G (p.Gln2378Glu) c.7147C>G (p.Gln2383Glu) c.1444C>G (p.Gln482Glu) | |
| X | g.31820014G>T | CA412658526 | DMD | c.2116C>A (p.Gln706Lys) c.-111C>A (n.-111C>A) n.931C>A n.853C>A n.762C>A c.7270C>A (p.Gln2424Lys) c.3238C>A (p.Gln1080Lys) c.259C>A (p.Gln87Lys) c.358C>A (p.Gln120Lys) c.7258C>A (p.Gln2420Lys) c.66+16704C>A (n.66+16704C>A) c.7255C>A (p.Gln2419Lys) c.7267C>A (p.Gln2423Lys) c.7246C>A (p.Gln2416Lys) c.6901C>A (p.Gln2301Lys) c.3247C>A (p.Gln1083Lys) c.7141C>A (p.Gln2381Lys) c.7132C>A (p.Gln2378Lys) c.7147C>A (p.Gln2383Lys) c.1444C>A (p.Gln482Lys) | |
| X | g.31820015C>A | CA412658527 | DMD | c.2115G>T (p.Lys705Asn) c.-112G>T (n.-112G>T) n.930G>T n.852G>T n.761G>T c.7269G>T (p.Lys2423Asn) c.3237G>T (p.Lys1079Asn) c.258G>T (p.Lys86Asn) c.357G>T (p.Lys119Asn) c.7257G>T (p.Lys2419Asn) c.66+16703G>T (n.66+16703G>T) c.7254G>T (p.Lys2418Asn) c.7266G>T (p.Lys2422Asn) c.7245G>T (p.Lys2415Asn) c.6900G>T (p.Lys2300Asn) c.3246G>T (p.Lys1082Asn) c.7140G>T (p.Lys2380Asn) c.7131G>T (p.Lys2377Asn) c.7146G>T (p.Lys2382Asn) c.1443G>T (p.Lys481Asn) | |
| X | g.31820015C>G | CA412658528 | DMD | c.2115G>C (p.Lys705Asn) c.-112G>C (n.-112G>C) n.930G>C n.852G>C n.761G>C c.7269G>C (p.Lys2423Asn) c.3237G>C (p.Lys1079Asn) c.258G>C (p.Lys86Asn) c.357G>C (p.Lys119Asn) c.7257G>C (p.Lys2419Asn) c.66+16703G>C (n.66+16703G>C) c.7254G>C (p.Lys2418Asn) c.7266G>C (p.Lys2422Asn) c.7245G>C (p.Lys2415Asn) c.6900G>C (p.Lys2300Asn) c.3246G>C (p.Lys1082Asn) c.7140G>C (p.Lys2380Asn) c.7131G>C (p.Lys2377Asn) c.7146G>C (p.Lys2382Asn) c.1443G>C (p.Lys481Asn) | |
| X | g.31820015C>T | CA515859921 | DMD | c.2115G>A (p.Lys705=) c.-112G>A (n.-112G>A) n.930G>A n.852G>A n.761G>A c.7269G>A (p.Lys2423=) c.3237G>A (p.Lys1079=) c.258G>A (p.Lys86=) c.357G>A (p.Lys119=) c.7257G>A (p.Lys2419=) c.66+16703G>A (n.66+16703G>A) c.7254G>A (p.Lys2418=) c.7266G>A (p.Lys2422=) c.7245G>A (p.Lys2415=) c.6900G>A (p.Lys2300=) c.3246G>A (p.Lys1082=) c.7140G>A (p.Lys2380=) c.7131G>A (p.Lys2377=) c.7146G>A (p.Lys2382=) c.1443G>A (p.Lys481=) | ClinVar |
| X | g.31820015_31820016delinsCT | CA2422564580 | DMD | c.2114_2115delinsAG (p.Lys705=) c.-113_-112delinsAG (n.-113_-112delinsAG) n.929_930delinsAG n.851_852delinsAG n.760_761delinsAG c.7268_7269delinsAG (p.Lys2423=) c.3236_3237delinsAG (p.Lys1079=) c.257_258delinsAG (p.Lys86=) c.356_357delinsAG (p.Lys119=) c.7256_7257delinsAG (p.Lys2419=) c.66+16702_66+16703delinsAG (n.66+16702_66+16703delinsAG) c.7253_7254delinsAG (p.Lys2418=) c.7265_7266delinsAG (p.Lys2422=) c.7244_7245delinsAG (p.Lys2415=) c.6899_6900delinsAG (p.Lys2300=) c.3245_3246delinsAG (p.Lys1082=) c.7139_7140delinsAG (p.Lys2380=) c.7130_7131delinsAG (p.Lys2377=) c.7145_7146delinsAG (p.Lys2382=) c.1442_1443delinsAG (p.Lys481=) | |
| X | g.31820016T>A | CA412658529 | DMD | c.2114A>T (p.Lys705Met) c.-113A>T (n.-113A>T) n.929A>T n.851A>T n.760A>T c.7268A>T (p.Lys2423Met) c.3236A>T (p.Lys1079Met) c.257A>T (p.Lys86Met) c.356A>T (p.Lys119Met) c.7256A>T (p.Lys2419Met) c.66+16702A>T (n.66+16702A>T) c.7253A>T (p.Lys2418Met) c.7265A>T (p.Lys2422Met) c.7244A>T (p.Lys2415Met) c.6899A>T (p.Lys2300Met) c.3245A>T (p.Lys1082Met) c.7139A>T (p.Lys2380Met) c.7130A>T (p.Lys2377Met) c.7145A>T (p.Lys2382Met) c.1442A>T (p.Lys481Met) | |
| X | g.31820016T>C | CA412658531 | DMD | c.2114A>G (p.Lys705Arg) c.-113A>G (n.-113A>G) n.929A>G n.851A>G n.760A>G c.7268A>G (p.Lys2423Arg) c.3236A>G (p.Lys1079Arg) c.257A>G (p.Lys86Arg) c.356A>G (p.Lys119Arg) c.7256A>G (p.Lys2419Arg) c.66+16702A>G (n.66+16702A>G) c.7253A>G (p.Lys2418Arg) c.7265A>G (p.Lys2422Arg) c.7244A>G (p.Lys2415Arg) c.6899A>G (p.Lys2300Arg) c.3245A>G (p.Lys1082Arg) c.7139A>G (p.Lys2380Arg) c.7130A>G (p.Lys2377Arg) c.7145A>G (p.Lys2382Arg) c.1442A>G (p.Lys481Arg) | |
| X | g.31820016T>G | CA412658530 | DMD | c.2114A>C (p.Lys705Thr) c.-113A>C (n.-113A>C) n.929A>C n.851A>C n.760A>C c.7268A>C (p.Lys2423Thr) c.3236A>C (p.Lys1079Thr) c.257A>C (p.Lys86Thr) c.356A>C (p.Lys119Thr) c.7256A>C (p.Lys2419Thr) c.66+16702A>C (n.66+16702A>C) c.7253A>C (p.Lys2418Thr) c.7265A>C (p.Lys2422Thr) c.7244A>C (p.Lys2415Thr) c.6899A>C (p.Lys2300Thr) c.3245A>C (p.Lys1082Thr) c.7139A>C (p.Lys2380Thr) c.7130A>C (p.Lys2377Thr) c.7145A>C (p.Lys2382Thr) c.1442A>C (p.Lys481Thr) | |
| X | g.31820018del | CA658658944 | DMD | c.2114del (p.Lys705SerfsTer5) c.-113del (n.-113del) n.929del n.851del n.760del c.7268del (p.Lys2423SerfsTer5) c.3236del (p.Lys1079SerfsTer5) c.257del (p.Lys86SerfsTer5) c.356del (p.Lys119SerfsTer5) c.7256del (p.Lys2419SerfsTer5) c.66+16702del (n.66+16702del) c.7253del (p.Lys2418SerfsTer5) c.7265del (p.Lys2422SerfsTer5) c.7244del (p.Lys2415SerfsTer5) c.6899del (p.Lys2300SerfsTer5) c.3245del (p.Lys1082SerfsTer5) c.7139del (p.Lys2380SerfsTer5) c.7130del (p.Lys2377SerfsTer5) c.7145del (p.Lys2382SerfsTer5) c.1442del (p.Lys481SerfsTer5) | ClinVar dbSNP |
| X | g.31820017T>A | CA412658532 | DMD | c.2113A>T (p.Lys705Ter) c.-114A>T (n.-114A>T) n.928A>T n.850A>T n.759A>T c.7267A>T (p.Lys2423Ter) c.3235A>T (p.Lys1079Ter) c.256A>T (p.Lys86Ter) c.355A>T (p.Lys119Ter) c.7255A>T (p.Lys2419Ter) c.66+16701A>T (n.66+16701A>T) c.7252A>T (p.Lys2418Ter) c.7264A>T (p.Lys2422Ter) c.7243A>T (p.Lys2415Ter) c.6898A>T (p.Lys2300Ter) c.3244A>T (p.Lys1082Ter) c.7138A>T (p.Lys2380Ter) c.7129A>T (p.Lys2377Ter) c.7144A>T (p.Lys2382Ter) c.1441A>T (p.Lys481Ter) | |
| X | g.31820017T>C | CA412658534 | DMD | c.2113A>G (p.Lys705Glu) c.-114A>G (n.-114A>G) n.928A>G n.850A>G n.759A>G c.7267A>G (p.Lys2423Glu) c.3235A>G (p.Lys1079Glu) c.256A>G (p.Lys86Glu) c.355A>G (p.Lys119Glu) c.7255A>G (p.Lys2419Glu) c.66+16701A>G (n.66+16701A>G) c.7252A>G (p.Lys2418Glu) c.7264A>G (p.Lys2422Glu) c.7243A>G (p.Lys2415Glu) c.6898A>G (p.Lys2300Glu) c.3244A>G (p.Lys1082Glu) c.7138A>G (p.Lys2380Glu) c.7129A>G (p.Lys2377Glu) c.7144A>G (p.Lys2382Glu) c.1441A>G (p.Lys481Glu) | COSMIC COSMIC COSMIC COSMIC |
| X | g.31820017T>G | CA412658533 | DMD | c.2113A>C (p.Lys705Gln) c.-114A>C (n.-114A>C) n.928A>C n.850A>C n.759A>C c.7267A>C (p.Lys2423Gln) c.3235A>C (p.Lys1079Gln) c.256A>C (p.Lys86Gln) c.355A>C (p.Lys119Gln) c.7255A>C (p.Lys2419Gln) c.66+16701A>C (n.66+16701A>C) c.7252A>C (p.Lys2418Gln) c.7264A>C (p.Lys2422Gln) c.7243A>C (p.Lys2415Gln) c.6898A>C (p.Lys2300Gln) c.3244A>C (p.Lys1082Gln) c.7138A>C (p.Lys2380Gln) c.7129A>C (p.Lys2377Gln) c.7144A>C (p.Lys2382Gln) c.1441A>C (p.Lys481Gln) | |
| X | g.31820018T>A | CA515859922 | DMD | c.2112A>T (p.Ala704=) c.-115A>T (n.-115A>T) n.927A>T n.849A>T n.758A>T c.7266A>T (p.Ala2422=) c.3234A>T (p.Ala1078=) c.255A>T (p.Ala85=) c.354A>T (p.Ala118=) c.7254A>T (p.Ala2418=) c.66+16700A>T (n.66+16700A>T) c.7251A>T (p.Ala2417=) c.7263A>T (p.Ala2421=) c.7242A>T (p.Ala2414=) c.6897A>T (p.Ala2299=) c.3243A>T (p.Ala1081=) c.7137A>T (p.Ala2379=) c.7128A>T (p.Ala2376=) c.7143A>T (p.Ala2381=) c.1440A>T (p.Ala480=) | |
| X | g.31820018T>C | CA515859924 | DMD | c.2112A>G (p.Ala704=) c.-115A>G (n.-115A>G) n.927A>G n.849A>G n.758A>G c.7266A>G (p.Ala2422=) c.3234A>G (p.Ala1078=) c.255A>G (p.Ala85=) c.354A>G (p.Ala118=) c.7254A>G (p.Ala2418=) c.66+16700A>G (n.66+16700A>G) c.7251A>G (p.Ala2417=) c.7263A>G (p.Ala2421=) c.7242A>G (p.Ala2414=) c.6897A>G (p.Ala2299=) c.3243A>G (p.Ala1081=) c.7137A>G (p.Ala2379=) c.7128A>G (p.Ala2376=) c.7143A>G (p.Ala2381=) c.1440A>G (p.Ala480=) | |
| X | g.31820018T>G | CA515859923 | DMD | c.2112A>C (p.Ala704=) c.-115A>C (n.-115A>C) n.927A>C n.849A>C n.758A>C c.7266A>C (p.Ala2422=) c.3234A>C (p.Ala1078=) c.255A>C (p.Ala85=) c.354A>C (p.Ala118=) c.7254A>C (p.Ala2418=) c.66+16700A>C (n.66+16700A>C) c.7251A>C (p.Ala2417=) c.7263A>C (p.Ala2421=) c.7242A>C (p.Ala2414=) c.6897A>C (p.Ala2299=) c.3243A>C (p.Ala1081=) c.7137A>C (p.Ala2379=) c.7128A>C (p.Ala2376=) c.7143A>C (p.Ala2381=) c.1440A>C (p.Ala480=) | |
| X | g.31820019del | CA2695233118 | DMD | c.2111del (p.Ala704GlufsTer6) c.-116del (n.-116del) n.926del n.848del n.757del c.7265del (p.Ala2422GlufsTer6) c.3233del (p.Ala1078GlufsTer6) c.254del (p.Ala85GlufsTer6) c.353del (p.Ala118GlufsTer6) c.7253del (p.Ala2418GlufsTer6) c.66+16699del (n.66+16699del) c.7250del (p.Ala2417GlufsTer6) c.7262del (p.Ala2421GlufsTer6) c.7241del (p.Ala2414GlufsTer6) c.6896del (p.Ala2299GlufsTer6) c.3242del (p.Ala1081GlufsTer6) c.7136del (p.Ala2379GlufsTer6) c.7127del (p.Ala2376GlufsTer6) c.7142del (p.Ala2381GlufsTer6) c.1439del (p.Ala480GlufsTer6) | |
| X | g.31820019G>A | CA412658535 | DMD | c.2111C>T (p.Ala704Val) c.-116C>T (n.-116C>T) n.926C>T n.848C>T n.757C>T c.7265C>T (p.Ala2422Val) c.3233C>T (p.Ala1078Val) c.254C>T (p.Ala85Val) c.353C>T (p.Ala118Val) c.7253C>T (p.Ala2418Val) c.66+16699C>T (n.66+16699C>T) c.7250C>T (p.Ala2417Val) c.7262C>T (p.Ala2421Val) c.7241C>T (p.Ala2414Val) c.6896C>T (p.Ala2299Val) c.3242C>T (p.Ala1081Val) c.7136C>T (p.Ala2379Val) c.7127C>T (p.Ala2376Val) c.7142C>T (p.Ala2381Val) c.1439C>T (p.Ala480Val) | |
| X | g.31820019G>C | CA412658536 | DMD | c.2111C>G (p.Ala704Gly) c.-116C>G (n.-116C>G) n.926C>G n.848C>G n.757C>G c.7265C>G (p.Ala2422Gly) c.3233C>G (p.Ala1078Gly) c.254C>G (p.Ala85Gly) c.353C>G (p.Ala118Gly) c.7253C>G (p.Ala2418Gly) c.66+16699C>G (n.66+16699C>G) c.7250C>G (p.Ala2417Gly) c.7262C>G (p.Ala2421Gly) c.7241C>G (p.Ala2414Gly) c.6896C>G (p.Ala2299Gly) c.3242C>G (p.Ala1081Gly) c.7136C>G (p.Ala2379Gly) c.7127C>G (p.Ala2376Gly) c.7142C>G (p.Ala2381Gly) c.1439C>G (p.Ala480Gly) | |
| X | g.31820019G>T | CA412658537 | DMD | c.2111C>A (p.Ala704Glu) c.-116C>A (n.-116C>A) n.926C>A n.848C>A n.757C>A c.7265C>A (p.Ala2422Glu) c.3233C>A (p.Ala1078Glu) c.254C>A (p.Ala85Glu) c.353C>A (p.Ala118Glu) c.7253C>A (p.Ala2418Glu) c.66+16699C>A (n.66+16699C>A) c.7250C>A (p.Ala2417Glu) c.7262C>A (p.Ala2421Glu) c.7241C>A (p.Ala2414Glu) c.6896C>A (p.Ala2299Glu) c.3242C>A (p.Ala1081Glu) c.7136C>A (p.Ala2379Glu) c.7127C>A (p.Ala2376Glu) c.7142C>A (p.Ala2381Glu) c.1439C>A (p.Ala480Glu) | |
| X | g.31820020C>A | CA412658538 | DMD | c.2110G>T (p.Ala704Ser) c.-117G>T (n.-117G>T) n.925G>T n.847G>T n.756G>T c.7264G>T (p.Ala2422Ser) c.3232G>T (p.Ala1078Ser) c.253G>T (p.Ala85Ser) c.352G>T (p.Ala118Ser) c.7252G>T (p.Ala2418Ser) c.66+16698G>T (n.66+16698G>T) c.7249G>T (p.Ala2417Ser) c.7261G>T (p.Ala2421Ser) c.7240G>T (p.Ala2414Ser) c.6895G>T (p.Ala2299Ser) c.3241G>T (p.Ala1081Ser) c.7135G>T (p.Ala2379Ser) c.7126G>T (p.Ala2376Ser) c.7141G>T (p.Ala2381Ser) c.1438G>T (p.Ala480Ser) | |
| X | g.31820020C>G | CA412658539 | DMD | c.2110G>C (p.Ala704Pro) c.-117G>C (n.-117G>C) n.925G>C n.847G>C n.756G>C c.7264G>C (p.Ala2422Pro) c.3232G>C (p.Ala1078Pro) c.253G>C (p.Ala85Pro) c.352G>C (p.Ala118Pro) c.7252G>C (p.Ala2418Pro) c.66+16698G>C (n.66+16698G>C) c.7249G>C (p.Ala2417Pro) c.7261G>C (p.Ala2421Pro) c.7240G>C (p.Ala2414Pro) c.6895G>C (p.Ala2299Pro) c.3241G>C (p.Ala1081Pro) c.7135G>C (p.Ala2379Pro) c.7126G>C (p.Ala2376Pro) c.7141G>C (p.Ala2381Pro) c.1438G>C (p.Ala480Pro) | |
| X | g.31820020C>T | CA412658540 | DMD | c.2110G>A (p.Ala704Thr) c.-117G>A (n.-117G>A) n.925G>A n.847G>A n.756G>A c.7264G>A (p.Ala2422Thr) c.3232G>A (p.Ala1078Thr) c.253G>A (p.Ala85Thr) c.352G>A (p.Ala118Thr) c.7252G>A (p.Ala2418Thr) c.66+16698G>A (n.66+16698G>A) c.7249G>A (p.Ala2417Thr) c.7261G>A (p.Ala2421Thr) c.7240G>A (p.Ala2414Thr) c.6895G>A (p.Ala2299Thr) c.3241G>A (p.Ala1081Thr) c.7135G>A (p.Ala2379Thr) c.7126G>A (p.Ala2376Thr) c.7141G>A (p.Ala2381Thr) c.1438G>A (p.Ala480Thr) | |
| X | g.31820022dup | CA2695233119 | DMD | c.2110dup (p.Ala704GlyfsTer5) c.-117dup (n.-117dup) n.925dup n.847dup n.756dup c.7264dup (p.Ala2422GlyfsTer5) c.3232dup (p.Ala1078GlyfsTer5) c.253dup (p.Ala85GlyfsTer5) c.352dup (p.Ala118GlyfsTer5) c.7252dup (p.Ala2418GlyfsTer5) c.66+16698dup (n.66+16698dup) c.7249dup (p.Ala2417GlyfsTer5) c.7261dup (p.Ala2421GlyfsTer5) c.7240dup (p.Ala2414GlyfsTer5) c.6895dup (p.Ala2299GlyfsTer5) c.3241dup (p.Ala1081GlyfsTer5) c.7135dup (p.Ala2379GlyfsTer5) c.7126dup (p.Ala2376GlyfsTer5) c.7141dup (p.Ala2381GlyfsTer5) c.1438dup (p.Ala480GlyfsTer5) | |
| X | g.31820021C>A | CA412658541 | DMD | c.2109G>T (p.Arg703Ser) c.-118G>T (n.-118G>T) n.924G>T n.846G>T n.755G>T c.7263G>T (p.Arg2421Ser) c.3231G>T (p.Arg1077Ser) c.252G>T (p.Arg84Ser) c.351G>T (p.Arg117Ser) c.7251G>T (p.Arg2417Ser) c.66+16697G>T (n.66+16697G>T) c.7248G>T (p.Arg2416Ser) c.7260G>T (p.Arg2420Ser) c.7239G>T (p.Arg2413Ser) c.6894G>T (p.Arg2298Ser) c.3240G>T (p.Arg1080Ser) c.7134G>T (p.Arg2378Ser) c.7125G>T (p.Arg2375Ser) c.7140G>T (p.Arg2380Ser) c.1437G>T (p.Arg479Ser) | |
| X | g.31820021C>G | CA412658542 | DMD | c.2109G>C (p.Arg703Ser) c.-118G>C (n.-118G>C) n.924G>C n.846G>C n.755G>C c.7263G>C (p.Arg2421Ser) c.3231G>C (p.Arg1077Ser) c.252G>C (p.Arg84Ser) c.351G>C (p.Arg117Ser) c.7251G>C (p.Arg2417Ser) c.66+16697G>C (n.66+16697G>C) c.7248G>C (p.Arg2416Ser) c.7260G>C (p.Arg2420Ser) c.7239G>C (p.Arg2413Ser) c.6894G>C (p.Arg2298Ser) c.3240G>C (p.Arg1080Ser) c.7134G>C (p.Arg2378Ser) c.7125G>C (p.Arg2375Ser) c.7140G>C (p.Arg2380Ser) c.1437G>C (p.Arg479Ser) | |
| X | g.31820021C>T | CA515859925 | DMD | c.2109G>A (p.Arg703=) c.-118G>A (n.-118G>A) n.924G>A n.846G>A n.755G>A c.7263G>A (p.Arg2421=) c.3231G>A (p.Arg1077=) c.252G>A (p.Arg84=) c.351G>A (p.Arg117=) c.7251G>A (p.Arg2417=) c.66+16697G>A (n.66+16697G>A) c.7248G>A (p.Arg2416=) c.7260G>A (p.Arg2420=) c.7239G>A (p.Arg2413=) c.6894G>A (p.Arg2298=) c.3240G>A (p.Arg1080=) c.7134G>A (p.Arg2378=) c.7125G>A (p.Arg2375=) c.7140G>A (p.Arg2380=) c.1437G>A (p.Arg479=) | ClinVar |
| X | g.31820022C>A | CA412658543 | DMD | c.2108G>T (p.Arg703Met) c.-119G>T (n.-119G>T) n.923G>T n.845G>T n.754G>T c.7262G>T (p.Arg2421Met) c.3230G>T (p.Arg1077Met) c.251G>T (p.Arg84Met) c.350G>T (p.Arg117Met) c.7250G>T (p.Arg2417Met) c.66+16696G>T (n.66+16696G>T) c.7247G>T (p.Arg2416Met) c.7259G>T (p.Arg2420Met) c.7238G>T (p.Arg2413Met) c.6893G>T (p.Arg2298Met) c.3239G>T (p.Arg1080Met) c.7133G>T (p.Arg2378Met) c.7124G>T (p.Arg2375Met) c.7139G>T (p.Arg2380Met) c.1436G>T (p.Arg479Met) | |
| X | g.31820022C>G | CA412658544 | DMD | c.2108G>C (p.Arg703Thr) c.-119G>C (n.-119G>C) n.923G>C n.845G>C n.754G>C c.7262G>C (p.Arg2421Thr) c.3230G>C (p.Arg1077Thr) c.251G>C (p.Arg84Thr) c.350G>C (p.Arg117Thr) c.7250G>C (p.Arg2417Thr) c.66+16696G>C (n.66+16696G>C) c.7247G>C (p.Arg2416Thr) c.7259G>C (p.Arg2420Thr) c.7238G>C (p.Arg2413Thr) c.6893G>C (p.Arg2298Thr) c.3239G>C (p.Arg1080Thr) c.7133G>C (p.Arg2378Thr) c.7124G>C (p.Arg2375Thr) c.7139G>C (p.Arg2380Thr) c.1436G>C (p.Arg479Thr) | |
| X | g.31820022C>T | CA412658545 | DMD | c.2108G>A (p.Arg703Lys) c.-119G>A (n.-119G>A) n.923G>A n.845G>A n.754G>A c.7262G>A (p.Arg2421Lys) c.3230G>A (p.Arg1077Lys) c.251G>A (p.Arg84Lys) c.350G>A (p.Arg117Lys) c.7250G>A (p.Arg2417Lys) c.66+16696G>A (n.66+16696G>A) c.7247G>A (p.Arg2416Lys) c.7259G>A (p.Arg2420Lys) c.7238G>A (p.Arg2413Lys) c.6893G>A (p.Arg2298Lys) c.3239G>A (p.Arg1080Lys) c.7133G>A (p.Arg2378Lys) c.7124G>A (p.Arg2375Lys) c.7139G>A (p.Arg2380Lys) c.1436G>A (p.Arg479Lys) | |
| X | g.31820023T>A | CA412658546 | DMD | c.2107A>T (p.Arg703Trp) c.-120A>T (n.-120A>T) n.922A>T n.844A>T n.753A>T c.7261A>T (p.Arg2421Trp) c.3229A>T (p.Arg1077Trp) c.250A>T (p.Arg84Trp) c.349A>T (p.Arg117Trp) c.7249A>T (p.Arg2417Trp) c.66+16695A>T (n.66+16695A>T) c.7246A>T (p.Arg2416Trp) c.7258A>T (p.Arg2420Trp) c.7237A>T (p.Arg2413Trp) c.6892A>T (p.Arg2298Trp) c.3238A>T (p.Arg1080Trp) c.7132A>T (p.Arg2378Trp) c.7123A>T (p.Arg2375Trp) c.7138A>T (p.Arg2380Trp) c.1435A>T (p.Arg479Trp) | |
| X | g.31820023T>C | CA412658547 | DMD | c.2107A>G (p.Arg703Gly) c.-120A>G (n.-120A>G) n.922A>G n.844A>G n.753A>G c.7261A>G (p.Arg2421Gly) c.3229A>G (p.Arg1077Gly) c.250A>G (p.Arg84Gly) c.349A>G (p.Arg117Gly) c.7249A>G (p.Arg2417Gly) c.66+16695A>G (n.66+16695A>G) c.7246A>G (p.Arg2416Gly) c.7258A>G (p.Arg2420Gly) c.7237A>G (p.Arg2413Gly) c.6892A>G (p.Arg2298Gly) c.3238A>G (p.Arg1080Gly) c.7132A>G (p.Arg2378Gly) c.7123A>G (p.Arg2375Gly) c.7138A>G (p.Arg2380Gly) c.1435A>G (p.Arg479Gly) | |
| X | g.31820023T>G | CA515859926 | DMD | c.2107A>C (p.Arg703=) c.-120A>C (n.-120A>C) n.922A>C n.844A>C n.753A>C c.7261A>C (p.Arg2421=) c.3229A>C (p.Arg1077=) c.250A>C (p.Arg84=) c.349A>C (p.Arg117=) c.7249A>C (p.Arg2417=) c.66+16695A>C (n.66+16695A>C) c.7246A>C (p.Arg2416=) c.7258A>C (p.Arg2420=) c.7237A>C (p.Arg2413=) c.6892A>C (p.Arg2298=) c.3238A>C (p.Arg1080=) c.7132A>C (p.Arg2378=) c.7123A>C (p.Arg2375=) c.7138A>C (p.Arg2380=) c.1435A>C (p.Arg479=) | |
| X | g.31820024C>A | CA515859927 | DMD | c.2106G>T (p.Leu702=) c.-121G>T (n.-121G>T) n.921G>T n.843G>T n.752G>T c.7260G>T (p.Leu2420=) c.3228G>T (p.Leu1076=) c.249G>T (p.Leu83=) c.348G>T (p.Leu116=) c.7248G>T (p.Leu2416=) c.66+16694G>T (n.66+16694G>T) c.7245G>T (p.Leu2415=) c.7257G>T (p.Leu2419=) c.7236G>T (p.Leu2412=) c.6891G>T (p.Leu2297=) c.3237G>T (p.Leu1079=) c.7131G>T (p.Leu2377=) c.7122G>T (p.Leu2374=) c.7137G>T (p.Leu2379=) c.1434G>T (p.Leu478=) | |
| X | g.31820024C>G | CA515859928 | DMD | c.2106G>C (p.Leu702=) c.-121G>C (n.-121G>C) n.921G>C n.843G>C n.752G>C c.7260G>C (p.Leu2420=) c.3228G>C (p.Leu1076=) c.249G>C (p.Leu83=) c.348G>C (p.Leu116=) c.7248G>C (p.Leu2416=) c.66+16694G>C (n.66+16694G>C) c.7245G>C (p.Leu2415=) c.7257G>C (p.Leu2419=) c.7236G>C (p.Leu2412=) c.6891G>C (p.Leu2297=) c.3237G>C (p.Leu1079=) c.7131G>C (p.Leu2377=) c.7122G>C (p.Leu2374=) c.7137G>C (p.Leu2379=) c.1434G>C (p.Leu478=) | |
| X | g.31820024C>T | CA515859929 | DMD | c.2106G>A (p.Leu702=) c.-121G>A (n.-121G>A) n.921G>A n.843G>A n.752G>A c.7260G>A (p.Leu2420=) c.3228G>A (p.Leu1076=) c.249G>A (p.Leu83=) c.348G>A (p.Leu116=) c.7248G>A (p.Leu2416=) c.66+16694G>A (n.66+16694G>A) c.7245G>A (p.Leu2415=) c.7257G>A (p.Leu2419=) c.7236G>A (p.Leu2412=) c.6891G>A (p.Leu2297=) c.3237G>A (p.Leu1079=) c.7131G>A (p.Leu2377=) c.7122G>A (p.Leu2374=) c.7137G>A (p.Leu2379=) c.1434G>A (p.Leu478=) | |
| X | g.31820025A>C | CA412658550 | DMD | c.2105T>G (p.Leu702Arg) c.-122T>G (n.-122T>G) n.920T>G n.842T>G n.751T>G c.7259T>G (p.Leu2420Arg) c.3227T>G (p.Leu1076Arg) c.248T>G (p.Leu83Arg) c.347T>G (p.Leu116Arg) c.7247T>G (p.Leu2416Arg) c.66+16693T>G (n.66+16693T>G) c.7244T>G (p.Leu2415Arg) c.7256T>G (p.Leu2419Arg) c.7235T>G (p.Leu2412Arg) c.6890T>G (p.Leu2297Arg) c.3236T>G (p.Leu1079Arg) c.7130T>G (p.Leu2377Arg) c.7121T>G (p.Leu2374Arg) c.7136T>G (p.Leu2379Arg) c.1433T>G (p.Leu478Arg) | |
| X | g.31820025A>G | CA412658548 | DMD | c.2105T>C (p.Leu702Pro) c.-122T>C (n.-122T>C) n.920T>C n.842T>C n.751T>C c.7259T>C (p.Leu2420Pro) c.3227T>C (p.Leu1076Pro) c.248T>C (p.Leu83Pro) c.347T>C (p.Leu116Pro) c.7247T>C (p.Leu2416Pro) c.66+16693T>C (n.66+16693T>C) c.7244T>C (p.Leu2415Pro) c.7256T>C (p.Leu2419Pro) c.7235T>C (p.Leu2412Pro) c.6890T>C (p.Leu2297Pro) c.3236T>C (p.Leu1079Pro) c.7130T>C (p.Leu2377Pro) c.7121T>C (p.Leu2374Pro) c.7136T>C (p.Leu2379Pro) c.1433T>C (p.Leu478Pro) | |
| X | g.31820025A>T | CA412658549 | DMD | c.2105T>A (p.Leu702Gln) c.-122T>A (n.-122T>A) n.920T>A n.842T>A n.751T>A c.7259T>A (p.Leu2420Gln) c.3227T>A (p.Leu1076Gln) c.248T>A (p.Leu83Gln) c.347T>A (p.Leu116Gln) c.7247T>A (p.Leu2416Gln) c.66+16693T>A (n.66+16693T>A) c.7244T>A (p.Leu2415Gln) c.7256T>A (p.Leu2419Gln) c.7235T>A (p.Leu2412Gln) c.6890T>A (p.Leu2297Gln) c.3236T>A (p.Leu1079Gln) c.7130T>A (p.Leu2377Gln) c.7121T>A (p.Leu2374Gln) c.7136T>A (p.Leu2379Gln) c.1433T>A (p.Leu478Gln) | |
| X | g.31820026G>A | CA515859930 | DMD | c.2104C>T (p.Leu702=) c.-123C>T (n.-123C>T) n.919C>T n.841C>T n.750C>T c.7258C>T (p.Leu2420=) c.3226C>T (p.Leu1076=) c.247C>T (p.Leu83=) c.346C>T (p.Leu116=) c.7246C>T (p.Leu2416=) c.66+16692C>T (n.66+16692C>T) c.7243C>T (p.Leu2415=) c.7255C>T (p.Leu2419=) c.7234C>T (p.Leu2412=) c.6889C>T (p.Leu2297=) c.3235C>T (p.Leu1079=) c.7129C>T (p.Leu2377=) c.7120C>T (p.Leu2374=) c.7135C>T (p.Leu2379=) c.1432C>T (p.Leu478=) | |
| X | g.31820026G>C | CA412658551 | DMD | c.2104C>G (p.Leu702Val) c.-123C>G (n.-123C>G) n.919C>G n.841C>G n.750C>G c.7258C>G (p.Leu2420Val) c.3226C>G (p.Leu1076Val) c.247C>G (p.Leu83Val) c.346C>G (p.Leu116Val) c.7246C>G (p.Leu2416Val) c.66+16692C>G (n.66+16692C>G) c.7243C>G (p.Leu2415Val) c.7255C>G (p.Leu2419Val) c.7234C>G (p.Leu2412Val) c.6889C>G (p.Leu2297Val) c.3235C>G (p.Leu1079Val) c.7129C>G (p.Leu2377Val) c.7120C>G (p.Leu2374Val) c.7135C>G (p.Leu2379Val) c.1432C>G (p.Leu478Val) | |
| X | g.31820026G>T | CA412658552 | DMD | c.2104C>A (p.Leu702Met) c.-123C>A (n.-123C>A) n.919C>A n.841C>A n.750C>A c.7258C>A (p.Leu2420Met) c.3226C>A (p.Leu1076Met) c.247C>A (p.Leu83Met) c.346C>A (p.Leu116Met) c.7246C>A (p.Leu2416Met) c.66+16692C>A (n.66+16692C>A) c.7243C>A (p.Leu2415Met) c.7255C>A (p.Leu2419Met) c.7234C>A (p.Leu2412Met) c.6889C>A (p.Leu2297Met) c.3235C>A (p.Leu1079Met) c.7129C>A (p.Leu2377Met) c.7120C>A (p.Leu2374Met) c.7135C>A (p.Leu2379Met) c.1432C>A (p.Leu478Met) | |
| X | g.31820027C>A | CA412658553 | DMD | c.2103G>T (p.Glu701Asp) c.-124G>T (n.-124G>T) n.918G>T n.840G>T n.749G>T c.7257G>T (p.Glu2419Asp) c.3225G>T (p.Glu1075Asp) c.246G>T (p.Glu82Asp) c.345G>T (p.Glu115Asp) c.7245G>T (p.Glu2415Asp) c.66+16691G>T (n.66+16691G>T) c.7242G>T (p.Glu2414Asp) c.7254G>T (p.Glu2418Asp) c.7233G>T (p.Glu2411Asp) c.6888G>T (p.Glu2296Asp) c.3234G>T (p.Glu1078Asp) c.7128G>T (p.Glu2376Asp) c.7119G>T (p.Glu2373Asp) c.7134G>T (p.Glu2378Asp) c.1431G>T (p.Glu477Asp) | |
| X | g.31820027C>G | CA412658554 | DMD | c.2103G>C (p.Glu701Asp) c.-124G>C (n.-124G>C) n.918G>C n.840G>C n.749G>C c.7257G>C (p.Glu2419Asp) c.3225G>C (p.Glu1075Asp) c.246G>C (p.Glu82Asp) c.345G>C (p.Glu115Asp) c.7245G>C (p.Glu2415Asp) c.66+16691G>C (n.66+16691G>C) c.7242G>C (p.Glu2414Asp) c.7254G>C (p.Glu2418Asp) c.7233G>C (p.Glu2411Asp) c.6888G>C (p.Glu2296Asp) c.3234G>C (p.Glu1078Asp) c.7128G>C (p.Glu2376Asp) c.7119G>C (p.Glu2373Asp) c.7134G>C (p.Glu2378Asp) c.1431G>C (p.Glu477Asp) | |
| X | g.31820027C>T | CA515859931 | DMD | c.2103G>A (p.Glu701=) c.-124G>A (n.-124G>A) n.918G>A n.840G>A n.749G>A c.7257G>A (p.Glu2419=) c.3225G>A (p.Glu1075=) c.246G>A (p.Glu82=) c.345G>A (p.Glu115=) c.7245G>A (p.Glu2415=) c.66+16691G>A (n.66+16691G>A) c.7242G>A (p.Glu2414=) c.7254G>A (p.Glu2418=) c.7233G>A (p.Glu2411=) c.6888G>A (p.Glu2296=) c.3234G>A (p.Glu1078=) c.7128G>A (p.Glu2376=) c.7119G>A (p.Glu2373=) c.7134G>A (p.Glu2378=) c.1431G>A (p.Glu477=) | |
| X | g.31820028T>A | CA412658555 | DMD | c.2102A>T (p.Glu701Val) c.-125A>T (n.-125A>T) n.917A>T n.839A>T n.748A>T c.7256A>T (p.Glu2419Val) c.3224A>T (p.Glu1075Val) c.245A>T (p.Glu82Val) c.344A>T (p.Glu115Val) c.7244A>T (p.Glu2415Val) c.66+16690A>T (n.66+16690A>T) c.7241A>T (p.Glu2414Val) c.7253A>T (p.Glu2418Val) c.7232A>T (p.Glu2411Val) c.6887A>T (p.Glu2296Val) c.3233A>T (p.Glu1078Val) c.7127A>T (p.Glu2376Val) c.7118A>T (p.Glu2373Val) c.7133A>T (p.Glu2378Val) c.1430A>T (p.Glu477Val) | |
| X | g.31820028T>C | CA412658556 | DMD | c.2102A>G (p.Glu701Gly) c.-125A>G (n.-125A>G) n.917A>G n.839A>G n.748A>G c.7256A>G (p.Glu2419Gly) c.3224A>G (p.Glu1075Gly) c.245A>G (p.Glu82Gly) c.344A>G (p.Glu115Gly) c.7244A>G (p.Glu2415Gly) c.66+16690A>G (n.66+16690A>G) c.7241A>G (p.Glu2414Gly) c.7253A>G (p.Glu2418Gly) c.7232A>G (p.Glu2411Gly) c.6887A>G (p.Glu2296Gly) c.3233A>G (p.Glu1078Gly) c.7127A>G (p.Glu2376Gly) c.7118A>G (p.Glu2373Gly) c.7133A>G (p.Glu2378Gly) c.1430A>G (p.Glu477Gly) | |
| X | g.31820028T>G | CA412658557 | DMD | c.2102A>C (p.Glu701Ala) c.-125A>C (n.-125A>C) n.917A>C n.839A>C n.748A>C c.7256A>C (p.Glu2419Ala) c.3224A>C (p.Glu1075Ala) c.245A>C (p.Glu82Ala) c.344A>C (p.Glu115Ala) c.7244A>C (p.Glu2415Ala) c.66+16690A>C (n.66+16690A>C) c.7241A>C (p.Glu2414Ala) c.7253A>C (p.Glu2418Ala) c.7232A>C (p.Glu2411Ala) c.6887A>C (p.Glu2296Ala) c.3233A>C (p.Glu1078Ala) c.7127A>C (p.Glu2376Ala) c.7118A>C (p.Glu2373Ala) c.7133A>C (p.Glu2378Ala) c.1430A>C (p.Glu477Ala) | |
| X | g.31820029C>A | CA412658558 | DMD | c.2101G>T (p.Glu701Ter) c.-126G>T (n.-126G>T) n.916G>T n.838G>T n.747G>T c.7255G>T (p.Glu2419Ter) c.3223G>T (p.Glu1075Ter) c.244G>T (p.Glu82Ter) c.343G>T (p.Glu115Ter) c.7243G>T (p.Glu2415Ter) c.66+16689G>T (n.66+16689G>T) c.7240G>T (p.Glu2414Ter) c.7252G>T (p.Glu2418Ter) c.7231G>T (p.Glu2411Ter) c.6886G>T (p.Glu2296Ter) c.3232G>T (p.Glu1078Ter) c.7126G>T (p.Glu2376Ter) c.7117G>T (p.Glu2373Ter) c.7132G>T (p.Glu2378Ter) c.1429G>T (p.Glu477Ter) | dbSNP |
| X | g.31820029C>G | CA412658559 | DMD | c.2101G>C (p.Glu701Gln) c.-126G>C (n.-126G>C) n.916G>C n.838G>C n.747G>C c.7255G>C (p.Glu2419Gln) c.3223G>C (p.Glu1075Gln) c.244G>C (p.Glu82Gln) c.343G>C (p.Glu115Gln) c.7243G>C (p.Glu2415Gln) c.66+16689G>C (n.66+16689G>C) c.7240G>C (p.Glu2414Gln) c.7252G>C (p.Glu2418Gln) c.7231G>C (p.Glu2411Gln) c.6886G>C (p.Glu2296Gln) c.3232G>C (p.Glu1078Gln) c.7126G>C (p.Glu2376Gln) c.7117G>C (p.Glu2373Gln) c.7132G>C (p.Glu2378Gln) c.1429G>C (p.Glu477Gln) | gnomAD v4 |
| X | g.31820029C>T | CA412658561 | DMD | c.2101G>A (p.Glu701Lys) c.-126G>A (n.-126G>A) n.916G>A n.838G>A n.747G>A c.7255G>A (p.Glu2419Lys) c.3223G>A (p.Glu1075Lys) c.244G>A (p.Glu82Lys) c.343G>A (p.Glu115Lys) c.7243G>A (p.Glu2415Lys) c.66+16689G>A (n.66+16689G>A) c.7240G>A (p.Glu2414Lys) c.7252G>A (p.Glu2418Lys) c.7231G>A (p.Glu2411Lys) c.6886G>A (p.Glu2296Lys) c.3232G>A (p.Glu1078Lys) c.7126G>A (p.Glu2376Lys) c.7117G>A (p.Glu2373Lys) c.7132G>A (p.Glu2378Lys) c.1429G>A (p.Glu477Lys) | |
| X | g.31820030T>A | CA412658563 | DMD | c.2100A>T (p.Gln700His) c.-127A>T (n.-127A>T) n.915A>T n.837A>T n.746A>T c.7254A>T (p.Gln2418His) c.3222A>T (p.Gln1074His) c.243A>T (p.Gln81His) c.342A>T (p.Gln114His) c.7242A>T (p.Gln2414His) c.66+16688A>T (n.66+16688A>T) c.7239A>T (p.Gln2413His) c.7251A>T (p.Gln2417His) c.7230A>T (p.Gln2410His) c.6885A>T (p.Gln2295His) c.3231A>T (p.Gln1077His) c.7125A>T (p.Gln2375His) c.7116A>T (p.Gln2372His) c.7131A>T (p.Gln2377His) c.1428A>T (p.Gln476His) | |
| X | g.31820030T>C | CA515859932 | DMD | c.2100A>G (p.Gln700=) c.-127A>G (n.-127A>G) n.915A>G n.837A>G n.746A>G c.7254A>G (p.Gln2418=) c.3222A>G (p.Gln1074=) c.243A>G (p.Gln81=) c.342A>G (p.Gln114=) c.7242A>G (p.Gln2414=) c.66+16688A>G (n.66+16688A>G) c.7239A>G (p.Gln2413=) c.7251A>G (p.Gln2417=) c.7230A>G (p.Gln2410=) c.6885A>G (p.Gln2295=) c.3231A>G (p.Gln1077=) c.7125A>G (p.Gln2375=) c.7116A>G (p.Gln2372=) c.7131A>G (p.Gln2377=) c.1428A>G (p.Gln476=) | |
| X | g.31820030T>G | CA412658565 | DMD | c.2100A>C (p.Gln700His) c.-127A>C (n.-127A>C) n.915A>C n.837A>C n.746A>C c.7254A>C (p.Gln2418His) c.3222A>C (p.Gln1074His) c.243A>C (p.Gln81His) c.342A>C (p.Gln114His) c.7242A>C (p.Gln2414His) c.66+16688A>C (n.66+16688A>C) c.7239A>C (p.Gln2413His) c.7251A>C (p.Gln2417His) c.7230A>C (p.Gln2410His) c.6885A>C (p.Gln2295His) c.3231A>C (p.Gln1077His) c.7125A>C (p.Gln2375His) c.7116A>C (p.Gln2372His) c.7131A>C (p.Gln2377His) c.1428A>C (p.Gln476His) | |
| X | g.31820031T>A | CA412658567 | DMD | c.2099A>T (p.Gln700Leu) c.-128A>T (n.-128A>T) n.914A>T n.836A>T n.745A>T c.7253A>T (p.Gln2418Leu) c.3221A>T (p.Gln1074Leu) c.242A>T (p.Gln81Leu) c.341A>T (p.Gln114Leu) c.7241A>T (p.Gln2414Leu) c.66+16687A>T (n.66+16687A>T) c.7238A>T (p.Gln2413Leu) c.7250A>T (p.Gln2417Leu) c.7229A>T (p.Gln2410Leu) c.6884A>T (p.Gln2295Leu) c.3230A>T (p.Gln1077Leu) c.7124A>T (p.Gln2375Leu) c.7115A>T (p.Gln2372Leu) c.7130A>T (p.Gln2377Leu) c.1427A>T (p.Gln476Leu) | |
| X | g.31820031T>C | CA412658571 | DMD | c.2099A>G (p.Gln700Arg) c.-128A>G (n.-128A>G) n.914A>G n.836A>G n.745A>G c.7253A>G (p.Gln2418Arg) c.3221A>G (p.Gln1074Arg) c.242A>G (p.Gln81Arg) c.341A>G (p.Gln114Arg) c.7241A>G (p.Gln2414Arg) c.66+16687A>G (n.66+16687A>G) c.7238A>G (p.Gln2413Arg) c.7250A>G (p.Gln2417Arg) c.7229A>G (p.Gln2410Arg) c.6884A>G (p.Gln2295Arg) c.3230A>G (p.Gln1077Arg) c.7124A>G (p.Gln2375Arg) c.7115A>G (p.Gln2372Arg) c.7130A>G (p.Gln2377Arg) c.1427A>G (p.Gln476Arg) | |
| X | g.31820031T>G | CA412658569 | DMD | c.2099A>C (p.Gln700Pro) c.-128A>C (n.-128A>C) n.914A>C n.836A>C n.745A>C c.7253A>C (p.Gln2418Pro) c.3221A>C (p.Gln1074Pro) c.242A>C (p.Gln81Pro) c.341A>C (p.Gln114Pro) c.7241A>C (p.Gln2414Pro) c.66+16687A>C (n.66+16687A>C) c.7238A>C (p.Gln2413Pro) c.7250A>C (p.Gln2417Pro) c.7229A>C (p.Gln2410Pro) c.6884A>C (p.Gln2295Pro) c.3230A>C (p.Gln1077Pro) c.7124A>C (p.Gln2375Pro) c.7115A>C (p.Gln2372Pro) c.7130A>C (p.Gln2377Pro) c.1427A>C (p.Gln476Pro) | |
| X | g.31820032G>A | CA412658573 | DMD | c.2098C>T (p.Gln700Ter) c.-129C>T (n.-129C>T) n.913C>T n.835C>T n.744C>T c.7252C>T (p.Gln2418Ter) c.3220C>T (p.Gln1074Ter) c.241C>T (p.Gln81Ter) c.340C>T (p.Gln114Ter) c.7240C>T (p.Gln2414Ter) c.66+16686C>T (n.66+16686C>T) c.7237C>T (p.Gln2413Ter) c.7249C>T (p.Gln2417Ter) c.7228C>T (p.Gln2410Ter) c.6883C>T (p.Gln2295Ter) c.3229C>T (p.Gln1077Ter) c.7123C>T (p.Gln2375Ter) c.7114C>T (p.Gln2372Ter) c.7129C>T (p.Gln2377Ter) c.1426C>T (p.Gln476Ter) | ClinVar dbSNP |
| X | g.31820032G>C | CA412658575 | DMD | c.2098C>G (p.Gln700Glu) c.-129C>G (n.-129C>G) n.913C>G n.835C>G n.744C>G c.7252C>G (p.Gln2418Glu) c.3220C>G (p.Gln1074Glu) c.241C>G (p.Gln81Glu) c.340C>G (p.Gln114Glu) c.7240C>G (p.Gln2414Glu) c.66+16686C>G (n.66+16686C>G) c.7237C>G (p.Gln2413Glu) c.7249C>G (p.Gln2417Glu) c.7228C>G (p.Gln2410Glu) c.6883C>G (p.Gln2295Glu) c.3229C>G (p.Gln1077Glu) c.7123C>G (p.Gln2375Glu) c.7114C>G (p.Gln2372Glu) c.7129C>G (p.Gln2377Glu) c.1426C>G (p.Gln476Glu) | |
| X | g.31820032G= | CA2422564581 | DMD | c.2098C= (p.Gln700=) c.-129C= (n.-129C=) n.913C= n.835C= n.744C= c.7252C= (p.Gln2418=) c.3220C= (p.Gln1074=) c.241C= (p.Gln81=) c.340C= (p.Gln114=) c.7240C= (p.Gln2414=) c.66+16686C= (n.66+16686C=) c.7237C= (p.Gln2413=) c.7249C= (p.Gln2417=) c.7228C= (p.Gln2410=) c.6883C= (p.Gln2295=) c.3229C= (p.Gln1077=) c.7123C= (p.Gln2375=) c.7114C= (p.Gln2372=) c.7129C= (p.Gln2377=) c.1426C= (p.Gln476=) | |
| X | g.31820032G>T | CA412658577 | DMD | c.2098C>A (p.Gln700Lys) c.-129C>A (n.-129C>A) n.913C>A n.835C>A n.744C>A c.7252C>A (p.Gln2418Lys) c.3220C>A (p.Gln1074Lys) c.241C>A (p.Gln81Lys) c.340C>A (p.Gln114Lys) c.7240C>A (p.Gln2414Lys) c.66+16686C>A (n.66+16686C>A) c.7237C>A (p.Gln2413Lys) c.7249C>A (p.Gln2417Lys) c.7228C>A (p.Gln2410Lys) c.6883C>A (p.Gln2295Lys) c.3229C>A (p.Gln1077Lys) c.7123C>A (p.Gln2375Lys) c.7114C>A (p.Gln2372Lys) c.7129C>A (p.Gln2377Lys) c.1426C>A (p.Gln476Lys) | |
| X | g.31820033A>C | CA515859933 | DMD | c.2097T>G (p.Leu699=) c.-130T>G (n.-130T>G) n.912T>G n.834T>G n.743T>G c.7251T>G (p.Leu2417=) c.3219T>G (p.Leu1073=) c.240T>G (p.Leu80=) c.339T>G (p.Leu113=) c.7239T>G (p.Leu2413=) c.66+16685T>G (n.66+16685T>G) c.7236T>G (p.Leu2412=) c.7248T>G (p.Leu2416=) c.7227T>G (p.Leu2409=) c.6882T>G (p.Leu2294=) c.3228T>G (p.Leu1076=) c.7122T>G (p.Leu2374=) c.7113T>G (p.Leu2371=) c.7128T>G (p.Leu2376=) c.1425T>G (p.Leu475=) | |
| X | g.31820033A>G | CA515859934 | DMD | c.2097T>C (p.Leu699=) c.-130T>C (n.-130T>C) n.912T>C n.834T>C n.743T>C c.7251T>C (p.Leu2417=) c.3219T>C (p.Leu1073=) c.240T>C (p.Leu80=) c.339T>C (p.Leu113=) c.7239T>C (p.Leu2413=) c.66+16685T>C (n.66+16685T>C) c.7236T>C (p.Leu2412=) c.7248T>C (p.Leu2416=) c.7227T>C (p.Leu2409=) c.6882T>C (p.Leu2294=) c.3228T>C (p.Leu1076=) c.7122T>C (p.Leu2374=) c.7113T>C (p.Leu2371=) c.7128T>C (p.Leu2376=) c.1425T>C (p.Leu475=) | |
| X | g.31820033A>T | CA515859935 | DMD | c.2097T>A (p.Leu699=) c.-130T>A (n.-130T>A) n.912T>A n.834T>A n.743T>A c.7251T>A (p.Leu2417=) c.3219T>A (p.Leu1073=) c.240T>A (p.Leu80=) c.339T>A (p.Leu113=) c.7239T>A (p.Leu2413=) c.66+16685T>A (n.66+16685T>A) c.7236T>A (p.Leu2412=) c.7248T>A (p.Leu2416=) c.7227T>A (p.Leu2409=) c.6882T>A (p.Leu2294=) c.3228T>A (p.Leu1076=) c.7122T>A (p.Leu2374=) c.7113T>A (p.Leu2371=) c.7128T>A (p.Leu2376=) c.1425T>A (p.Leu475=) | |
| X | g.31820034A>C | CA412658578 | DMD | c.2096T>G (p.Leu699Arg) c.-131T>G (n.-131T>G) n.911T>G n.833T>G n.742T>G c.7250T>G (p.Leu2417Arg) c.3218T>G (p.Leu1073Arg) c.239T>G (p.Leu80Arg) c.338T>G (p.Leu113Arg) c.7238T>G (p.Leu2413Arg) c.66+16684T>G (n.66+16684T>G) c.7235T>G (p.Leu2412Arg) c.7247T>G (p.Leu2416Arg) c.7226T>G (p.Leu2409Arg) c.6881T>G (p.Leu2294Arg) c.3227T>G (p.Leu1076Arg) c.7121T>G (p.Leu2374Arg) c.7112T>G (p.Leu2371Arg) c.7127T>G (p.Leu2376Arg) c.1424T>G (p.Leu475Arg) | |
| X | g.31820034A>G | CA412658579 | DMD | c.2096T>C (p.Leu699Pro) c.-131T>C (n.-131T>C) n.911T>C n.833T>C n.742T>C c.7250T>C (p.Leu2417Pro) c.3218T>C (p.Leu1073Pro) c.239T>C (p.Leu80Pro) c.338T>C (p.Leu113Pro) c.7238T>C (p.Leu2413Pro) c.66+16684T>C (n.66+16684T>C) c.7235T>C (p.Leu2412Pro) c.7247T>C (p.Leu2416Pro) c.7226T>C (p.Leu2409Pro) c.6881T>C (p.Leu2294Pro) c.3227T>C (p.Leu1076Pro) c.7121T>C (p.Leu2374Pro) c.7112T>C (p.Leu2371Pro) c.7127T>C (p.Leu2376Pro) c.1424T>C (p.Leu475Pro) | gnomAD v4 |
| X | g.31820034A>T | CA412658580 | DMD | c.2096T>A (p.Leu699His) c.-131T>A (n.-131T>A) n.911T>A n.833T>A n.742T>A c.7250T>A (p.Leu2417His) c.3218T>A (p.Leu1073His) c.239T>A (p.Leu80His) c.338T>A (p.Leu113His) c.7238T>A (p.Leu2413His) c.66+16684T>A (n.66+16684T>A) c.7235T>A (p.Leu2412His) c.7247T>A (p.Leu2416His) c.7226T>A (p.Leu2409His) c.6881T>A (p.Leu2294His) c.3227T>A (p.Leu1076His) c.7121T>A (p.Leu2374His) c.7112T>A (p.Leu2371His) c.7127T>A (p.Leu2376His) c.1424T>A (p.Leu475His) | |
| X | g.31820035G>A | CA412658582 | DMD | c.2095C>T (p.Leu699Phe) c.-132C>T (n.-132C>T) n.910C>T n.832C>T n.741C>T c.7249C>T (p.Leu2417Phe) c.3217C>T (p.Leu1073Phe) c.238C>T (p.Leu80Phe) c.337C>T (p.Leu113Phe) c.7237C>T (p.Leu2413Phe) c.66+16683C>T (n.66+16683C>T) c.7234C>T (p.Leu2412Phe) c.7246C>T (p.Leu2416Phe) c.7225C>T (p.Leu2409Phe) c.6880C>T (p.Leu2294Phe) c.3226C>T (p.Leu1076Phe) c.7120C>T (p.Leu2374Phe) c.7111C>T (p.Leu2371Phe) c.7126C>T (p.Leu2376Phe) c.1423C>T (p.Leu475Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.31820035G>C | CA412658584 | DMD | c.2095C>G (p.Leu699Val) c.-132C>G (n.-132C>G) n.910C>G n.832C>G n.741C>G c.7249C>G (p.Leu2417Val) c.3217C>G (p.Leu1073Val) c.238C>G (p.Leu80Val) c.337C>G (p.Leu113Val) c.7237C>G (p.Leu2413Val) c.66+16683C>G (n.66+16683C>G) c.7234C>G (p.Leu2412Val) c.7246C>G (p.Leu2416Val) c.7225C>G (p.Leu2409Val) c.6880C>G (p.Leu2294Val) c.3226C>G (p.Leu1076Val) c.7120C>G (p.Leu2374Val) c.7111C>G (p.Leu2371Val) c.7126C>G (p.Leu2376Val) c.1423C>G (p.Leu475Val) | |
| X | g.31820035G= | CA2422564582 | DMD | c.2095C= (p.Leu699=) c.-132C= (n.-132C=) n.910C= n.832C= n.741C= c.7249C= (p.Leu2417=) c.3217C= (p.Leu1073=) c.238C= (p.Leu80=) c.337C= (p.Leu113=) c.7237C= (p.Leu2413=) c.66+16683C= (n.66+16683C=) c.7234C= (p.Leu2412=) c.7246C= (p.Leu2416=) c.7225C= (p.Leu2409=) c.6880C= (p.Leu2294=) c.3226C= (p.Leu1076=) c.7120C= (p.Leu2374=) c.7111C= (p.Leu2371=) c.7126C= (p.Leu2376=) c.1423C= (p.Leu475=) | |
| X | g.31820035G>T | CA412658585 | DMD | c.2095C>A (p.Leu699Ile) c.-132C>A (n.-132C>A) n.910C>A n.832C>A n.741C>A c.7249C>A (p.Leu2417Ile) c.3217C>A (p.Leu1073Ile) c.238C>A (p.Leu80Ile) c.337C>A (p.Leu113Ile) c.7237C>A (p.Leu2413Ile) c.66+16683C>A (n.66+16683C>A) c.7234C>A (p.Leu2412Ile) c.7246C>A (p.Leu2416Ile) c.7225C>A (p.Leu2409Ile) c.6880C>A (p.Leu2294Ile) c.3226C>A (p.Leu1076Ile) c.7120C>A (p.Leu2374Ile) c.7111C>A (p.Leu2371Ile) c.7126C>A (p.Leu2376Ile) c.1423C>A (p.Leu475Ile) | |
| X | g.31820036T>A | CA412658588 | DMD | c.2094A>T (p.Leu698Phe) c.-133A>T (n.-133A>T) n.909A>T n.831A>T n.740A>T c.7248A>T (p.Leu2416Phe) c.3216A>T (p.Leu1072Phe) c.237A>T (p.Leu79Phe) c.336A>T (p.Leu112Phe) c.7236A>T (p.Leu2412Phe) c.66+16682A>T (n.66+16682A>T) c.7233A>T (p.Leu2411Phe) c.7245A>T (p.Leu2415Phe) c.7224A>T (p.Leu2408Phe) c.6879A>T (p.Leu2293Phe) c.3225A>T (p.Leu1075Phe) c.7119A>T (p.Leu2373Phe) c.7110A>T (p.Leu2370Phe) c.7125A>T (p.Leu2375Phe) c.1422A>T (p.Leu474Phe) | |
| X | g.31820036T>C | CA515859936 | DMD | c.2094A>G (p.Leu698=) c.-133A>G (n.-133A>G) n.909A>G n.831A>G n.740A>G c.7248A>G (p.Leu2416=) c.3216A>G (p.Leu1072=) c.237A>G (p.Leu79=) c.336A>G (p.Leu112=) c.7236A>G (p.Leu2412=) c.66+16682A>G (n.66+16682A>G) c.7233A>G (p.Leu2411=) c.7245A>G (p.Leu2415=) c.7224A>G (p.Leu2408=) c.6879A>G (p.Leu2293=) c.3225A>G (p.Leu1075=) c.7119A>G (p.Leu2373=) c.7110A>G (p.Leu2370=) c.7125A>G (p.Leu2375=) c.1422A>G (p.Leu474=) | ClinVar |
| X | g.31820036T>G | CA412658589 | DMD | c.2094A>C (p.Leu698Phe) c.-133A>C (n.-133A>C) n.909A>C n.831A>C n.740A>C c.7248A>C (p.Leu2416Phe) c.3216A>C (p.Leu1072Phe) c.237A>C (p.Leu79Phe) c.336A>C (p.Leu112Phe) c.7236A>C (p.Leu2412Phe) c.66+16682A>C (n.66+16682A>C) c.7233A>C (p.Leu2411Phe) c.7245A>C (p.Leu2415Phe) c.7224A>C (p.Leu2408Phe) c.6879A>C (p.Leu2293Phe) c.3225A>C (p.Leu1075Phe) c.7119A>C (p.Leu2373Phe) c.7110A>C (p.Leu2370Phe) c.7125A>C (p.Leu2375Phe) c.1422A>C (p.Leu474Phe) | |
| X | g.31820036T= | CA2422564583 | DMD | c.2094A= (p.Leu698=) c.-133A= (n.-133A=) n.909A= n.831A= n.740A= c.7248A= (p.Leu2416=) c.3216A= (p.Leu1072=) c.237A= (p.Leu79=) c.336A= (p.Leu112=) c.7236A= (p.Leu2412=) c.66+16682A= (n.66+16682A=) c.7233A= (p.Leu2411=) c.7245A= (p.Leu2415=) c.7224A= (p.Leu2408=) c.6879A= (p.Leu2293=) c.3225A= (p.Leu1075=) c.7119A= (p.Leu2373=) c.7110A= (p.Leu2370=) c.7125A= (p.Leu2375=) c.1422A= (p.Leu474=) | |
| X | g.31820037A= | CA2422564584 | DMD | c.2093T= (p.Leu698=) c.-134T= (n.-134T=) n.908T= n.830T= n.739T= c.7247T= (p.Leu2416=) c.3215T= (p.Leu1072=) c.236T= (p.Leu79=) c.335T= (p.Leu112=) c.7235T= (p.Leu2412=) c.66+16681T= (n.66+16681T=) c.7232T= (p.Leu2411=) c.7244T= (p.Leu2415=) c.7223T= (p.Leu2408=) c.6878T= (p.Leu2293=) c.3224T= (p.Leu1075=) c.7118T= (p.Leu2373=) c.7109T= (p.Leu2370=) c.7124T= (p.Leu2375=) c.1421T= (p.Leu474=) | |
| X | g.31820037A>C | CA412658592 | DMD | c.2093T>G (p.Leu698Ter) c.-134T>G (n.-134T>G) n.908T>G n.830T>G n.739T>G c.7247T>G (p.Leu2416Ter) c.3215T>G (p.Leu1072Ter) c.236T>G (p.Leu79Ter) c.335T>G (p.Leu112Ter) c.7235T>G (p.Leu2412Ter) c.66+16681T>G (n.66+16681T>G) c.7232T>G (p.Leu2411Ter) c.7244T>G (p.Leu2415Ter) c.7223T>G (p.Leu2408Ter) c.6878T>G (p.Leu2293Ter) c.3224T>G (p.Leu1075Ter) c.7118T>G (p.Leu2373Ter) c.7109T>G (p.Leu2370Ter) c.7124T>G (p.Leu2375Ter) c.1421T>G (p.Leu474Ter) | |
| X | g.31820037A>G | CA412658596 | DMD | c.2093T>C (p.Leu698Ser) c.-134T>C (n.-134T>C) n.908T>C n.830T>C n.739T>C c.7247T>C (p.Leu2416Ser) c.3215T>C (p.Leu1072Ser) c.236T>C (p.Leu79Ser) c.335T>C (p.Leu112Ser) c.7235T>C (p.Leu2412Ser) c.66+16681T>C (n.66+16681T>C) c.7232T>C (p.Leu2411Ser) c.7244T>C (p.Leu2415Ser) c.7223T>C (p.Leu2408Ser) c.6878T>C (p.Leu2293Ser) c.3224T>C (p.Leu1075Ser) c.7118T>C (p.Leu2373Ser) c.7109T>C (p.Leu2370Ser) c.7124T>C (p.Leu2375Ser) c.1421T>C (p.Leu474Ser) | |
| X | g.31820037A>T | CA412658594 | DMD | c.2093T>A (p.Leu698Ter) c.-134T>A (n.-134T>A) n.908T>A n.830T>A n.739T>A c.7247T>A (p.Leu2416Ter) c.3215T>A (p.Leu1072Ter) c.236T>A (p.Leu79Ter) c.335T>A (p.Leu112Ter) c.7235T>A (p.Leu2412Ter) c.66+16681T>A (n.66+16681T>A) c.7232T>A (p.Leu2411Ter) c.7244T>A (p.Leu2415Ter) c.7223T>A (p.Leu2408Ter) c.6878T>A (p.Leu2293Ter) c.3224T>A (p.Leu1075Ter) c.7118T>A (p.Leu2373Ter) c.7109T>A (p.Leu2370Ter) c.7124T>A (p.Leu2375Ter) c.1421T>A (p.Leu474Ter) | ClinVar dbSNP |
| X | g.31820039dup | CA275312 | DMD | c.2093dup (p.Leu698PhefsTer11) c.-134dup (n.-134dup) n.908dup n.830dup n.739dup c.7247dup (p.Leu2416PhefsTer11) c.3215dup (p.Leu1072PhefsTer11) c.236dup (p.Leu79PhefsTer11) c.335dup (p.Leu112PhefsTer11) c.7235dup (p.Leu2412PhefsTer11) c.66+16681dup (n.66+16681dup) c.7232dup (p.Leu2411PhefsTer11) c.7244dup (p.Leu2415PhefsTer11) c.7223dup (p.Leu2408PhefsTer11) c.6878dup (p.Leu2293PhefsTer11) c.3224dup (p.Leu1075PhefsTer11) c.7118dup (p.Leu2373PhefsTer11) c.7109dup (p.Leu2370PhefsTer11) c.7124dup (p.Leu2375PhefsTer11) c.1421dup (p.Leu474PhefsTer11) | ClinVar dbSNP |
| X | g.31820039del | CA2695233124 | DMD | c.2093del (p.Leu698TyrfsTer5) c.-134del (n.-134del) n.908del n.830del n.739del c.7247del (p.Leu2416TyrfsTer5) c.3215del (p.Leu1072TyrfsTer5) c.236del (p.Leu79TyrfsTer5) c.335del (p.Leu112TyrfsTer5) c.7235del (p.Leu2412TyrfsTer5) c.66+16681del (n.66+16681del) c.7232del (p.Leu2411TyrfsTer5) c.7244del (p.Leu2415TyrfsTer5) c.7223del (p.Leu2408TyrfsTer5) c.6878del (p.Leu2293TyrfsTer5) c.3224del (p.Leu1075TyrfsTer5) c.7118del (p.Leu2373TyrfsTer5) c.7109del (p.Leu2370TyrfsTer5) c.7124del (p.Leu2375TyrfsTer5) c.1421del (p.Leu474TyrfsTer5) | |
| X | g.31820038A>C | CA412658599 | DMD | c.2092T>G (p.Leu698Val) c.-135T>G (n.-135T>G) n.907T>G n.829T>G n.738T>G c.7246T>G (p.Leu2416Val) c.3214T>G (p.Leu1072Val) c.235T>G (p.Leu79Val) c.334T>G (p.Leu112Val) c.7234T>G (p.Leu2412Val) c.66+16680T>G (n.66+16680T>G) c.7231T>G (p.Leu2411Val) c.7243T>G (p.Leu2415Val) c.7222T>G (p.Leu2408Val) c.6877T>G (p.Leu2293Val) c.3223T>G (p.Leu1075Val) c.7117T>G (p.Leu2373Val) c.7108T>G (p.Leu2370Val) c.7123T>G (p.Leu2375Val) c.1420T>G (p.Leu474Val) | gnomAD v4 |
| X | g.31820038A>G | CA515859937 | DMD | c.2092T>C (p.Leu698=) c.-135T>C (n.-135T>C) n.907T>C n.829T>C n.738T>C c.7246T>C (p.Leu2416=) c.3214T>C (p.Leu1072=) c.235T>C (p.Leu79=) c.334T>C (p.Leu112=) c.7234T>C (p.Leu2412=) c.66+16680T>C (n.66+16680T>C) c.7231T>C (p.Leu2411=) c.7243T>C (p.Leu2415=) c.7222T>C (p.Leu2408=) c.6877T>C (p.Leu2293=) c.3223T>C (p.Leu1075=) c.7117T>C (p.Leu2373=) c.7108T>C (p.Leu2370=) c.7123T>C (p.Leu2375=) c.1420T>C (p.Leu474=) | ClinVar dbSNP |
| X | g.31820038A>T | CA412658602 | DMD | c.2092T>A (p.Leu698Ile) c.-135T>A (n.-135T>A) n.907T>A n.829T>A n.738T>A c.7246T>A (p.Leu2416Ile) c.3214T>A (p.Leu1072Ile) c.235T>A (p.Leu79Ile) c.334T>A (p.Leu112Ile) c.7234T>A (p.Leu2412Ile) c.66+16680T>A (n.66+16680T>A) c.7231T>A (p.Leu2411Ile) c.7243T>A (p.Leu2415Ile) c.7222T>A (p.Leu2408Ile) c.6877T>A (p.Leu2293Ile) c.3223T>A (p.Leu1075Ile) c.7117T>A (p.Leu2373Ile) c.7108T>A (p.Leu2370Ile) c.7123T>A (p.Leu2375Ile) c.1420T>A (p.Leu474Ile) | |
| X | g.31820039A>C | CA515859938 | DMD | c.2091T>G (p.Arg697=) c.-136T>G (n.-136T>G) n.906T>G n.828T>G n.737T>G c.7245T>G (p.Arg2415=) c.3213T>G (p.Arg1071=) c.234T>G (p.Arg78=) c.333T>G (p.Arg111=) c.7233T>G (p.Arg2411=) c.66+16679T>G (n.66+16679T>G) c.7230T>G (p.Arg2410=) c.7242T>G (p.Arg2414=) c.7221T>G (p.Arg2407=) c.6876T>G (p.Arg2292=) c.3222T>G (p.Arg1074=) c.7116T>G (p.Arg2372=) c.7107T>G (p.Arg2369=) c.7122T>G (p.Arg2374=) c.1419T>G (p.Arg473=) | |
| X | g.31820039A>G | CA515859939 | DMD | c.2091T>C (p.Arg697=) c.-136T>C (n.-136T>C) n.906T>C n.828T>C n.737T>C c.7245T>C (p.Arg2415=) c.3213T>C (p.Arg1071=) c.234T>C (p.Arg78=) c.333T>C (p.Arg111=) c.7233T>C (p.Arg2411=) c.66+16679T>C (n.66+16679T>C) c.7230T>C (p.Arg2410=) c.7242T>C (p.Arg2414=) c.7221T>C (p.Arg2407=) c.6876T>C (p.Arg2292=) c.3222T>C (p.Arg1074=) c.7116T>C (p.Arg2372=) c.7107T>C (p.Arg2369=) c.7122T>C (p.Arg2374=) c.1419T>C (p.Arg473=) | |
| X | g.31820039A>T | CA515859940 | DMD | c.2091T>A (p.Arg697=) c.-136T>A (n.-136T>A) n.906T>A n.828T>A n.737T>A c.7245T>A (p.Arg2415=) c.3213T>A (p.Arg1071=) c.234T>A (p.Arg78=) c.333T>A (p.Arg111=) c.7233T>A (p.Arg2411=) c.66+16679T>A (n.66+16679T>A) c.7230T>A (p.Arg2410=) c.7242T>A (p.Arg2414=) c.7221T>A (p.Arg2407=) c.6876T>A (p.Arg2292=) c.3222T>A (p.Arg1074=) c.7116T>A (p.Arg2372=) c.7107T>A (p.Arg2369=) c.7122T>A (p.Arg2374=) c.1419T>A (p.Arg473=) | |
| X | g.31820040C>A | CA412658604 | DMD | c.2090G>T (p.Arg697Leu) c.-137G>T (n.-137G>T) n.905G>T n.827G>T n.736G>T c.7244G>T (p.Arg2415Leu) c.3212G>T (p.Arg1071Leu) c.233G>T (p.Arg78Leu) c.332G>T (p.Arg111Leu) c.7232G>T (p.Arg2411Leu) c.66+16678G>T (n.66+16678G>T) c.7229G>T (p.Arg2410Leu) c.7241G>T (p.Arg2414Leu) c.7220G>T (p.Arg2407Leu) c.6875G>T (p.Arg2292Leu) c.3221G>T (p.Arg1074Leu) c.7115G>T (p.Arg2372Leu) c.7106G>T (p.Arg2369Leu) c.7121G>T (p.Arg2374Leu) c.1418G>T (p.Arg473Leu) | |
| X | g.31820040C= | CA2422564585 | DMD | c.2090G= (p.Arg697=) c.-137G= (n.-137G=) n.905G= n.827G= n.736G= c.7244G= (p.Arg2415=) c.3212G= (p.Arg1071=) c.233G= (p.Arg78=) c.332G= (p.Arg111=) c.7232G= (p.Arg2411=) c.66+16678G= (n.66+16678G=) c.7229G= (p.Arg2410=) c.7241G= (p.Arg2414=) c.7220G= (p.Arg2407=) c.6875G= (p.Arg2292=) c.3221G= (p.Arg1074=) c.7115G= (p.Arg2372=) c.7106G= (p.Arg2369=) c.7121G= (p.Arg2374=) c.1418G= (p.Arg473=) | |
| X | g.31820040C>G | CA412658606 | DMD | c.2090G>C (p.Arg697Pro) c.-137G>C (n.-137G>C) n.905G>C n.827G>C n.736G>C c.7244G>C (p.Arg2415Pro) c.3212G>C (p.Arg1071Pro) c.233G>C (p.Arg78Pro) c.332G>C (p.Arg111Pro) c.7232G>C (p.Arg2411Pro) c.66+16678G>C (n.66+16678G>C) c.7229G>C (p.Arg2410Pro) c.7241G>C (p.Arg2414Pro) c.7220G>C (p.Arg2407Pro) c.6875G>C (p.Arg2292Pro) c.3221G>C (p.Arg1074Pro) c.7115G>C (p.Arg2372Pro) c.7106G>C (p.Arg2369Pro) c.7121G>C (p.Arg2374Pro) c.1418G>C (p.Arg473Pro) | |
| X | g.31820040C>T | CA10378307 | DMD | c.2090G>A (p.Arg697His) c.-137G>A (n.-137G>A) n.905G>A n.827G>A n.736G>A c.7244G>A (p.Arg2415His) c.3212G>A (p.Arg1071His) c.233G>A (p.Arg78His) c.332G>A (p.Arg111His) c.7232G>A (p.Arg2411His) c.66+16678G>A (n.66+16678G>A) c.7229G>A (p.Arg2410His) c.7241G>A (p.Arg2414His) c.7220G>A (p.Arg2407His) c.6875G>A (p.Arg2292His) c.3221G>A (p.Arg1074His) c.7115G>A (p.Arg2372His) c.7106G>A (p.Arg2369His) c.7121G>A (p.Arg2374His) c.1418G>A (p.Arg473His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.31820040_31820043delinsCGGT | CA2422564586 | DMD | c.2087_2090delinsACCG (p.Asn696=) c.-140_-137delinsACCG (n.-140_-137delinsACCG) n.902_905delinsACCG n.824_827delinsACCG n.733_736delinsACCG c.7241_7244delinsACCG (p.Asn2414=) c.3209_3212delinsACCG (p.Asn1070=) c.230_233delinsACCG (p.Asn77=) c.329_332delinsACCG (p.Asn110=) c.7229_7232delinsACCG (p.Asn2410=) c.66+16675_66+16678delinsACCG (n.66+16675_66+16678delinsACCG) c.7226_7229delinsACCG (p.Asn2409=) c.7238_7241delinsACCG (p.Asn2413=) c.7217_7220delinsACCG (p.Asn2406=) c.6872_6875delinsACCG (p.Asn2291=) c.3218_3221delinsACCG (p.Asn1073=) c.7112_7115delinsACCG (p.Asn2371=) c.7103_7106delinsACCG (p.Asn2368=) c.7118_7121delinsACCG (p.Asn2373=) c.1415_1418delinsACCG (p.Asn472=) | |
| X | g.31820041G>A | CA233490 | DMD | c.2089C>T (p.Arg697Cys) c.-138C>T (n.-138C>T) n.904C>T n.826C>T n.735C>T c.7243C>T (p.Arg2415Cys) c.3211C>T (p.Arg1071Cys) c.232C>T (p.Arg78Cys) c.331C>T (p.Arg111Cys) c.7231C>T (p.Arg2411Cys) c.66+16677C>T (n.66+16677C>T) c.7228C>T (p.Arg2410Cys) c.7240C>T (p.Arg2414Cys) c.7219C>T (p.Arg2407Cys) c.6874C>T (p.Arg2292Cys) c.3220C>T (p.Arg1074Cys) c.7114C>T (p.Arg2372Cys) c.7105C>T (p.Arg2369Cys) c.7120C>T (p.Arg2374Cys) c.1417C>T (p.Arg473Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31820041G>C | CA412658610 | DMD | c.2089C>G (p.Arg697Gly) c.-138C>G (n.-138C>G) n.904C>G n.826C>G n.735C>G c.7243C>G (p.Arg2415Gly) c.3211C>G (p.Arg1071Gly) c.232C>G (p.Arg78Gly) c.331C>G (p.Arg111Gly) c.7231C>G (p.Arg2411Gly) c.66+16677C>G (n.66+16677C>G) c.7228C>G (p.Arg2410Gly) c.7240C>G (p.Arg2414Gly) c.7219C>G (p.Arg2407Gly) c.6874C>G (p.Arg2292Gly) c.3220C>G (p.Arg1074Gly) c.7114C>G (p.Arg2372Gly) c.7105C>G (p.Arg2369Gly) c.7120C>G (p.Arg2374Gly) c.1417C>G (p.Arg473Gly) | |
| X | g.31820041G= | CA2422564587 | DMD | c.2089C= (p.Arg697=) c.-138C= (n.-138C=) n.904C= n.826C= n.735C= c.7243C= (p.Arg2415=) c.3211C= (p.Arg1071=) c.232C= (p.Arg78=) c.331C= (p.Arg111=) c.7231C= (p.Arg2411=) c.66+16677C= (n.66+16677C=) c.7228C= (p.Arg2410=) c.7240C= (p.Arg2414=) c.7219C= (p.Arg2407=) c.6874C= (p.Arg2292=) c.3220C= (p.Arg1074=) c.7114C= (p.Arg2372=) c.7105C= (p.Arg2369=) c.7120C= (p.Arg2374=) c.1417C= (p.Arg473=) | |
| X | g.31820041G>T | CA412658612 | DMD | c.2089C>A (p.Arg697Ser) c.-138C>A (n.-138C>A) n.904C>A n.826C>A n.735C>A c.7243C>A (p.Arg2415Ser) c.3211C>A (p.Arg1071Ser) c.232C>A (p.Arg78Ser) c.331C>A (p.Arg111Ser) c.7231C>A (p.Arg2411Ser) c.66+16677C>A (n.66+16677C>A) c.7228C>A (p.Arg2410Ser) c.7240C>A (p.Arg2414Ser) c.7219C>A (p.Arg2407Ser) c.6874C>A (p.Arg2292Ser) c.3220C>A (p.Arg1074Ser) c.7114C>A (p.Arg2372Ser) c.7105C>A (p.Arg2369Ser) c.7120C>A (p.Arg2374Ser) c.1417C>A (p.Arg473Ser) | |
| X | g.31820041_31820043delinsAAAC | CA16616492 | DMD | c.2087_2089delinsGTTT (p.Asn696SerfsTer13) c.-140_-138delinsGTTT (n.-140_-138delinsGTTT) n.902_904delinsGTTT n.824_826delinsGTTT n.733_735delinsGTTT c.7241_7243delinsGTTT (p.Asn2414SerfsTer13) c.3209_3211delinsGTTT (p.Asn1070SerfsTer13) c.230_232delinsGTTT (p.Asn77SerfsTer13) c.329_331delinsGTTT (p.Asn110SerfsTer13) c.7229_7231delinsGTTT (p.Asn2410SerfsTer13) c.66+16675_66+16677delinsGTTT (n.66+16675_66+16677delinsGTTT) c.7226_7228delinsGTTT (p.Asn2409SerfsTer13) c.7238_7240delinsGTTT (p.Asn2413SerfsTer13) c.7217_7219delinsGTTT (p.Asn2406SerfsTer13) c.6872_6874delinsGTTT (p.Asn2291SerfsTer13) c.3218_3220delinsGTTT (p.Asn1073SerfsTer13) c.7112_7114delinsGTTT (p.Asn2371SerfsTer13) c.7103_7105delinsGTTT (p.Asn2368SerfsTer13) c.7118_7120delinsGTTT (p.Asn2373SerfsTer13) c.1415_1417delinsGTTT (p.Asn472SerfsTer13) | ClinVar dbSNP |
| X | g.31820042G>A | CA515859941 | DMD | c.2088C>T (p.Asn696=) c.-139C>T (n.-139C>T) n.903C>T n.825C>T n.734C>T c.7242C>T (p.Asn2414=) c.3210C>T (p.Asn1070=) c.231C>T (p.Asn77=) c.330C>T (p.Asn110=) c.7230C>T (p.Asn2410=) c.66+16676C>T (n.66+16676C>T) c.7227C>T (p.Asn2409=) c.7239C>T (p.Asn2413=) c.7218C>T (p.Asn2406=) c.6873C>T (p.Asn2291=) c.3219C>T (p.Asn1073=) c.7113C>T (p.Asn2371=) c.7104C>T (p.Asn2368=) c.7119C>T (p.Asn2373=) c.1416C>T (p.Asn472=) | |
| X | g.31820042G>C | CA412658615 | DMD | c.2088C>G (p.Asn696Lys) c.-139C>G (n.-139C>G) n.903C>G n.825C>G n.734C>G c.7242C>G (p.Asn2414Lys) c.3210C>G (p.Asn1070Lys) c.231C>G (p.Asn77Lys) c.330C>G (p.Asn110Lys) c.7230C>G (p.Asn2410Lys) c.66+16676C>G (n.66+16676C>G) c.7227C>G (p.Asn2409Lys) c.7239C>G (p.Asn2413Lys) c.7218C>G (p.Asn2406Lys) c.6873C>G (p.Asn2291Lys) c.3219C>G (p.Asn1073Lys) c.7113C>G (p.Asn2371Lys) c.7104C>G (p.Asn2368Lys) c.7119C>G (p.Asn2373Lys) c.1416C>G (p.Asn472Lys) | gnomAD v4 |
| X | g.31820042G>T | CA412658617 | DMD | c.2088C>A (p.Asn696Lys) c.-139C>A (n.-139C>A) n.903C>A n.825C>A n.734C>A c.7242C>A (p.Asn2414Lys) c.3210C>A (p.Asn1070Lys) c.231C>A (p.Asn77Lys) c.330C>A (p.Asn110Lys) c.7230C>A (p.Asn2410Lys) c.66+16676C>A (n.66+16676C>A) c.7227C>A (p.Asn2409Lys) c.7239C>A (p.Asn2413Lys) c.7218C>A (p.Asn2406Lys) c.6873C>A (p.Asn2291Lys) c.3219C>A (p.Asn1073Lys) c.7113C>A (p.Asn2371Lys) c.7104C>A (p.Asn2368Lys) c.7119C>A (p.Asn2373Lys) c.1416C>A (p.Asn472Lys) | |
| X | g.31820043T>A | CA412658621 | DMD | c.2087A>T (p.Asn696Ile) c.-140A>T (n.-140A>T) n.902A>T n.824A>T n.733A>T c.7241A>T (p.Asn2414Ile) c.3209A>T (p.Asn1070Ile) c.230A>T (p.Asn77Ile) c.329A>T (p.Asn110Ile) c.7229A>T (p.Asn2410Ile) c.66+16675A>T (n.66+16675A>T) c.7226A>T (p.Asn2409Ile) c.7238A>T (p.Asn2413Ile) c.7217A>T (p.Asn2406Ile) c.6872A>T (p.Asn2291Ile) c.3218A>T (p.Asn1073Ile) c.7112A>T (p.Asn2371Ile) c.7103A>T (p.Asn2368Ile) c.7118A>T (p.Asn2373Ile) c.1415A>T (p.Asn472Ile) | |
| X | g.31820043T>C | CA412658623 | DMD | c.2087A>G (p.Asn696Ser) c.-140A>G (n.-140A>G) n.902A>G n.824A>G n.733A>G c.7241A>G (p.Asn2414Ser) c.3209A>G (p.Asn1070Ser) c.230A>G (p.Asn77Ser) c.329A>G (p.Asn110Ser) c.7229A>G (p.Asn2410Ser) c.66+16675A>G (n.66+16675A>G) c.7226A>G (p.Asn2409Ser) c.7238A>G (p.Asn2413Ser) c.7217A>G (p.Asn2406Ser) c.6872A>G (p.Asn2291Ser) c.3218A>G (p.Asn1073Ser) c.7112A>G (p.Asn2371Ser) c.7103A>G (p.Asn2368Ser) c.7118A>G (p.Asn2373Ser) c.1415A>G (p.Asn472Ser) | |
| X | g.31820043T>G | CA412658619 | DMD | c.2087A>C (p.Asn696Thr) c.-140A>C (n.-140A>C) n.902A>C n.824A>C n.733A>C c.7241A>C (p.Asn2414Thr) c.3209A>C (p.Asn1070Thr) c.230A>C (p.Asn77Thr) c.329A>C (p.Asn110Thr) c.7229A>C (p.Asn2410Thr) c.66+16675A>C (n.66+16675A>C) c.7226A>C (p.Asn2409Thr) c.7238A>C (p.Asn2413Thr) c.7217A>C (p.Asn2406Thr) c.6872A>C (p.Asn2291Thr) c.3218A>C (p.Asn1073Thr) c.7112A>C (p.Asn2371Thr) c.7103A>C (p.Asn2368Thr) c.7118A>C (p.Asn2373Thr) c.1415A>C (p.Asn472Thr) | |
| X | g.31820045dup | CA2697552934 | DMD | c.2087dup (p.Asn696LysfsTer13) c.-140dup (n.-140dup) n.902dup n.824dup n.733dup c.7241dup (p.Asn2414LysfsTer13) c.3209dup (p.Asn1070LysfsTer13) c.230dup (p.Asn77LysfsTer13) c.329dup (p.Asn110LysfsTer13) c.7229dup (p.Asn2410LysfsTer13) c.66+16675dup (n.66+16675dup) c.7226dup (p.Asn2409LysfsTer13) c.7238dup (p.Asn2413LysfsTer13) c.7217dup (p.Asn2406LysfsTer13) c.6872dup (p.Asn2291LysfsTer13) c.3218dup (p.Asn1073LysfsTer13) c.7112dup (p.Asn2371LysfsTer13) c.7103dup (p.Asn2368LysfsTer13) c.7118dup (p.Asn2373LysfsTer13) c.1415dup (p.Asn472LysfsTer13) | ClinVar |