| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31773212_31774154delinsTGGTGA | CA2580100588 | DMD | c.2194_2388+748delinsTCACCA c.-33_162+748delinsTCACCA n.1009_1203+748delinsTCACCA n.931_1125+748delinsTCACCA n.840_1034+748delinsTCACCA c.7348_7542+748delinsTCACCA c.3316_3510+748delinsTCACCA c.337_531+748delinsTCACCA c.436_630+748delinsTCACCA c.7336_7530+748delinsTCACCA c.105_299+748delinsTCACCA c.7333_7527+748delinsTCACCA c.7345_7539+748delinsTCACCA c.7324_7518+748delinsTCACCA c.6979_7173+748delinsTCACCA c.3325_3519+748delinsTCACCA c.7219_7413+748delinsTCACCA c.7210_7404+748delinsTCACCA c.7225_7419+748delinsTCACCA c.1522_1716+748delinsTCACCA | ClinVar |
| X | g.31773952dup | CA10378262 | DMD | c.2388+13dup (n.2388+13dup) c.162+13dup (n.162+13dup) n.1203+13dup n.1125+13dup n.1034+13dup c.7542+13dup (n.7542+13dup) c.3510+13dup (n.3510+13dup) c.531+13dup (n.531+13dup) c.630+13dup (n.630+13dup) c.7530+13dup (n.7530+13dup) c.299+13dup (n.299+13dup) c.7527+13dup (n.7527+13dup) c.7539+13dup (n.7539+13dup) c.7518+13dup (n.7518+13dup) c.7173+13dup (n.7173+13dup) c.3519+13dup (n.3519+13dup) c.7413+13dup (n.7413+13dup) c.7404+13dup (n.7404+13dup) c.7419+13dup (n.7419+13dup) c.1716+13dup (n.1716+13dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31773952del | CA2740092083 | DMD | c.2388+13del (n.2388+13del) c.162+13del (n.162+13del) n.1203+13del n.1125+13del n.1034+13del c.7542+13del (n.7542+13del) c.3510+13del (n.3510+13del) c.531+13del (n.531+13del) c.630+13del (n.630+13del) c.7530+13del (n.7530+13del) c.299+13del (n.299+13del) c.7527+13del (n.7527+13del) c.7539+13del (n.7539+13del) c.7518+13del (n.7518+13del) c.7173+13del (n.7173+13del) c.3519+13del (n.3519+13del) c.7413+13del (n.7413+13del) c.7404+13del (n.7404+13del) c.7419+13del (n.7419+13del) c.1716+13del (n.1716+13del) | ClinVar |
| X | g.31773950T>C | CA222493 | DMD | c.2388+10A>G (n.2388+10A>G) c.162+10A>G (n.162+10A>G) n.1203+10A>G n.1125+10A>G n.1034+10A>G c.7542+10A>G (n.7542+10A>G) c.3510+10A>G (n.3510+10A>G) c.531+10A>G (n.531+10A>G) c.630+10A>G (n.630+10A>G) c.7530+10A>G (n.7530+10A>G) c.299+10A>G (n.299+10A>G) c.7527+10A>G (n.7527+10A>G) c.7539+10A>G (n.7539+10A>G) c.7518+10A>G (n.7518+10A>G) c.7173+10A>G (n.7173+10A>G) c.3519+10A>G (n.3519+10A>G) c.7413+10A>G (n.7413+10A>G) c.7404+10A>G (n.7404+10A>G) c.7419+10A>G (n.7419+10A>G) c.1716+10A>G (n.1716+10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31773950T= | CA2422548599 | DMD | c.2388+10A= (n.2388+10A=) c.162+10A= (n.162+10A=) n.1203+10A= n.1125+10A= n.1034+10A= c.7542+10A= (n.7542+10A=) c.3510+10A= (n.3510+10A=) c.531+10A= (n.531+10A=) c.630+10A= (n.630+10A=) c.7530+10A= (n.7530+10A=) c.299+10A= (n.299+10A=) c.7527+10A= (n.7527+10A=) c.7539+10A= (n.7539+10A=) c.7518+10A= (n.7518+10A=) c.7173+10A= (n.7173+10A=) c.3519+10A= (n.3519+10A=) c.7413+10A= (n.7413+10A=) c.7404+10A= (n.7404+10A=) c.7419+10A= (n.7419+10A=) c.1716+10A= (n.1716+10A=) | |
| X | g.31773952T>C | CA2566156077 | DMD | c.2388+8A>G (n.2388+8A>G) c.162+8A>G (n.162+8A>G) n.1203+8A>G n.1125+8A>G n.1034+8A>G c.7542+8A>G (n.7542+8A>G) c.3510+8A>G (n.3510+8A>G) c.531+8A>G (n.531+8A>G) c.630+8A>G (n.630+8A>G) c.7530+8A>G (n.7530+8A>G) c.299+8A>G (n.299+8A>G) c.7527+8A>G (n.7527+8A>G) c.7539+8A>G (n.7539+8A>G) c.7518+8A>G (n.7518+8A>G) c.7173+8A>G (n.7173+8A>G) c.3519+8A>G (n.3519+8A>G) c.7413+8A>G (n.7413+8A>G) c.7404+8A>G (n.7404+8A>G) c.7419+8A>G (n.7419+8A>G) c.1716+8A>G (n.1716+8A>G) | |
| X | g.31773952T= | CA2422548600 | DMD | c.2388+8A= (n.2388+8A=) c.162+8A= (n.162+8A=) n.1203+8A= n.1125+8A= n.1034+8A= c.7542+8A= (n.7542+8A=) c.3510+8A= (n.3510+8A=) c.531+8A= (n.531+8A=) c.630+8A= (n.630+8A=) c.7530+8A= (n.7530+8A=) c.299+8A= (n.299+8A=) c.7527+8A= (n.7527+8A=) c.7539+8A= (n.7539+8A=) c.7518+8A= (n.7518+8A=) c.7173+8A= (n.7173+8A=) c.3519+8A= (n.3519+8A=) c.7413+8A= (n.7413+8A=) c.7404+8A= (n.7404+8A=) c.7419+8A= (n.7419+8A=) c.1716+8A= (n.1716+8A=) | |
| X | g.31773953C= | CA2422548601 | DMD | c.2388+7G= (n.2388+7G=) c.162+7G= (n.162+7G=) n.1203+7G= n.1125+7G= n.1034+7G= c.7542+7G= (n.7542+7G=) c.3510+7G= (n.3510+7G=) c.531+7G= (n.531+7G=) c.630+7G= (n.630+7G=) c.7530+7G= (n.7530+7G=) c.299+7G= (n.299+7G=) c.7527+7G= (n.7527+7G=) c.7539+7G= (n.7539+7G=) c.7518+7G= (n.7518+7G=) c.7173+7G= (n.7173+7G=) c.3519+7G= (n.3519+7G=) c.7413+7G= (n.7413+7G=) c.7404+7G= (n.7404+7G=) c.7419+7G= (n.7419+7G=) c.1716+7G= (n.1716+7G=) | |
| X | g.31773953C>T | CA222494 | DMD | c.2388+7G>A (n.2388+7G>A) c.162+7G>A (n.162+7G>A) n.1203+7G>A n.1125+7G>A n.1034+7G>A c.7542+7G>A (n.7542+7G>A) c.3510+7G>A (n.3510+7G>A) c.531+7G>A (n.531+7G>A) c.630+7G>A (n.630+7G>A) c.7530+7G>A (n.7530+7G>A) c.299+7G>A (n.299+7G>A) c.7527+7G>A (n.7527+7G>A) c.7539+7G>A (n.7539+7G>A) c.7518+7G>A (n.7518+7G>A) c.7173+7G>A (n.7173+7G>A) c.3519+7G>A (n.3519+7G>A) c.7413+7G>A (n.7413+7G>A) c.7404+7G>A (n.7404+7G>A) c.7419+7G>A (n.7419+7G>A) c.1716+7G>A (n.1716+7G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.31773953dup | CA10378263 | DMD | c.2388+7dup (n.2388+7dup) c.162+7dup (n.162+7dup) n.1203+7dup n.1125+7dup n.1034+7dup c.7542+7dup (n.7542+7dup) c.3510+7dup (n.3510+7dup) c.531+7dup (n.531+7dup) c.630+7dup (n.630+7dup) c.7530+7dup (n.7530+7dup) c.299+7dup (n.299+7dup) c.7527+7dup (n.7527+7dup) c.7539+7dup (n.7539+7dup) c.7518+7dup (n.7518+7dup) c.7173+7dup (n.7173+7dup) c.3519+7dup (n.3519+7dup) c.7413+7dup (n.7413+7dup) c.7404+7dup (n.7404+7dup) c.7419+7dup (n.7419+7dup) c.1716+7dup (n.1716+7dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31773954T>C | CA2521751809 | DMD | c.2388+6A>G (n.2388+6A>G) c.162+6A>G (n.162+6A>G) n.1203+6A>G n.1125+6A>G n.1034+6A>G c.7542+6A>G (n.7542+6A>G) c.3510+6A>G (n.3510+6A>G) c.531+6A>G (n.531+6A>G) c.630+6A>G (n.630+6A>G) c.7530+6A>G (n.7530+6A>G) c.299+6A>G (n.299+6A>G) c.7527+6A>G (n.7527+6A>G) c.7539+6A>G (n.7539+6A>G) c.7518+6A>G (n.7518+6A>G) c.7173+6A>G (n.7173+6A>G) c.3519+6A>G (n.3519+6A>G) c.7413+6A>G (n.7413+6A>G) c.7404+6A>G (n.7404+6A>G) c.7419+6A>G (n.7419+6A>G) c.1716+6A>G (n.1716+6A>G) | |
| X | g.31773955C= | CA2422548602 | DMD | c.2388+5G= (n.2388+5G=) c.162+5G= (n.162+5G=) n.1203+5G= n.1125+5G= n.1034+5G= c.7542+5G= (n.7542+5G=) c.3510+5G= (n.3510+5G=) c.531+5G= (n.531+5G=) c.630+5G= (n.630+5G=) c.7530+5G= (n.7530+5G=) c.299+5G= (n.299+5G=) c.7527+5G= (n.7527+5G=) c.7539+5G= (n.7539+5G=) c.7518+5G= (n.7518+5G=) c.7173+5G= (n.7173+5G=) c.3519+5G= (n.3519+5G=) c.7413+5G= (n.7413+5G=) c.7404+5G= (n.7404+5G=) c.7419+5G= (n.7419+5G=) c.1716+5G= (n.1716+5G=) | |
| X | g.31773955C>G | CA874637294 | DMD | c.2388+5G>C (n.2388+5G>C) c.162+5G>C (n.162+5G>C) n.1203+5G>C n.1125+5G>C n.1034+5G>C c.7542+5G>C (n.7542+5G>C) c.3510+5G>C (n.3510+5G>C) c.531+5G>C (n.531+5G>C) c.630+5G>C (n.630+5G>C) c.7530+5G>C (n.7530+5G>C) c.299+5G>C (n.299+5G>C) c.7527+5G>C (n.7527+5G>C) c.7539+5G>C (n.7539+5G>C) c.7518+5G>C (n.7518+5G>C) c.7173+5G>C (n.7173+5G>C) c.3519+5G>C (n.3519+5G>C) c.7413+5G>C (n.7413+5G>C) c.7404+5G>C (n.7404+5G>C) c.7419+5G>C (n.7419+5G>C) c.1716+5G>C (n.1716+5G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31773955C>T | CA645605607 | DMD | c.2388+5G>A (n.2388+5G>A) c.162+5G>A (n.162+5G>A) n.1203+5G>A n.1125+5G>A n.1034+5G>A c.7542+5G>A (n.7542+5G>A) c.3510+5G>A (n.3510+5G>A) c.531+5G>A (n.531+5G>A) c.630+5G>A (n.630+5G>A) c.7530+5G>A (n.7530+5G>A) c.299+5G>A (n.299+5G>A) c.7527+5G>A (n.7527+5G>A) c.7539+5G>A (n.7539+5G>A) c.7518+5G>A (n.7518+5G>A) c.7173+5G>A (n.7173+5G>A) c.3519+5G>A (n.3519+5G>A) c.7413+5G>A (n.7413+5G>A) c.7404+5G>A (n.7404+5G>A) c.7419+5G>A (n.7419+5G>A) c.1716+5G>A (n.1716+5G>A) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31773956A= | CA2422548603 | DMD | c.2388+4T= (n.2388+4T=) c.162+4T= (n.162+4T=) n.1203+4T= n.1125+4T= n.1034+4T= c.7542+4T= (n.7542+4T=) c.3510+4T= (n.3510+4T=) c.531+4T= (n.531+4T=) c.630+4T= (n.630+4T=) c.7530+4T= (n.7530+4T=) c.299+4T= (n.299+4T=) c.7527+4T= (n.7527+4T=) c.7539+4T= (n.7539+4T=) c.7518+4T= (n.7518+4T=) c.7173+4T= (n.7173+4T=) c.3519+4T= (n.3519+4T=) c.7413+4T= (n.7413+4T=) c.7404+4T= (n.7404+4T=) c.7419+4T= (n.7419+4T=) c.1716+4T= (n.1716+4T=) | |
| X | g.31773956A>G | CA641365345 | DMD | c.2388+4T>C (n.2388+4T>C) c.162+4T>C (n.162+4T>C) n.1203+4T>C n.1125+4T>C n.1034+4T>C c.7542+4T>C (n.7542+4T>C) c.3510+4T>C (n.3510+4T>C) c.531+4T>C (n.531+4T>C) c.630+4T>C (n.630+4T>C) c.7530+4T>C (n.7530+4T>C) c.299+4T>C (n.299+4T>C) c.7527+4T>C (n.7527+4T>C) c.7539+4T>C (n.7539+4T>C) c.7518+4T>C (n.7518+4T>C) c.7173+4T>C (n.7173+4T>C) c.3519+4T>C (n.3519+4T>C) c.7413+4T>C (n.7413+4T>C) c.7404+4T>C (n.7404+4T>C) c.7419+4T>C (n.7419+4T>C) c.1716+4T>C (n.1716+4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31773958A>C | CA412658560 | DMD | c.2388+2T>G (n.2388+2T>G) c.162+2T>G (n.162+2T>G) n.1203+2T>G n.1125+2T>G n.1034+2T>G c.7542+2T>G (n.7542+2T>G) c.3510+2T>G (n.3510+2T>G) c.531+2T>G (n.531+2T>G) c.630+2T>G (n.630+2T>G) c.7530+2T>G (n.7530+2T>G) c.299+2T>G (n.299+2T>G) c.7527+2T>G (n.7527+2T>G) c.7539+2T>G (n.7539+2T>G) c.7518+2T>G (n.7518+2T>G) c.7173+2T>G (n.7173+2T>G) c.3519+2T>G (n.3519+2T>G) c.7413+2T>G (n.7413+2T>G) c.7404+2T>G (n.7404+2T>G) c.7419+2T>G (n.7419+2T>G) c.1716+2T>G (n.1716+2T>G) | |
| X | g.31773958A>G | CA412658564 | DMD | c.2388+2T>C (n.2388+2T>C) c.162+2T>C (n.162+2T>C) n.1203+2T>C n.1125+2T>C n.1034+2T>C c.7542+2T>C (n.7542+2T>C) c.3510+2T>C (n.3510+2T>C) c.531+2T>C (n.531+2T>C) c.630+2T>C (n.630+2T>C) c.7530+2T>C (n.7530+2T>C) c.299+2T>C (n.299+2T>C) c.7527+2T>C (n.7527+2T>C) c.7539+2T>C (n.7539+2T>C) c.7518+2T>C (n.7518+2T>C) c.7173+2T>C (n.7173+2T>C) c.3519+2T>C (n.3519+2T>C) c.7413+2T>C (n.7413+2T>C) c.7404+2T>C (n.7404+2T>C) c.7419+2T>C (n.7419+2T>C) c.1716+2T>C (n.1716+2T>C) | |
| X | g.31773958A>T | CA412658562 | DMD | c.2388+2T>A (n.2388+2T>A) c.162+2T>A (n.162+2T>A) n.1203+2T>A n.1125+2T>A n.1034+2T>A c.7542+2T>A (n.7542+2T>A) c.3510+2T>A (n.3510+2T>A) c.531+2T>A (n.531+2T>A) c.630+2T>A (n.630+2T>A) c.7530+2T>A (n.7530+2T>A) c.299+2T>A (n.299+2T>A) c.7527+2T>A (n.7527+2T>A) c.7539+2T>A (n.7539+2T>A) c.7518+2T>A (n.7518+2T>A) c.7173+2T>A (n.7173+2T>A) c.3519+2T>A (n.3519+2T>A) c.7413+2T>A (n.7413+2T>A) c.7404+2T>A (n.7404+2T>A) c.7419+2T>A (n.7419+2T>A) c.1716+2T>A (n.1716+2T>A) | |
| X | g.31773959C>A | CA412658566 | DMD | c.2388+1G>T (n.2388+1G>T) c.162+1G>T (n.162+1G>T) n.1203+1G>T n.1125+1G>T n.1034+1G>T c.7542+1G>T (n.7542+1G>T) c.3510+1G>T (n.3510+1G>T) c.531+1G>T (n.531+1G>T) c.630+1G>T (n.630+1G>T) c.7530+1G>T (n.7530+1G>T) c.299+1G>T (n.299+1G>T) c.7527+1G>T (n.7527+1G>T) c.7539+1G>T (n.7539+1G>T) c.7518+1G>T (n.7518+1G>T) c.7173+1G>T (n.7173+1G>T) c.3519+1G>T (n.3519+1G>T) c.7413+1G>T (n.7413+1G>T) c.7404+1G>T (n.7404+1G>T) c.7419+1G>T (n.7419+1G>T) c.1716+1G>T (n.1716+1G>T) | |
| X | g.31773959C>G | CA412658568 | DMD | c.2388+1G>C (n.2388+1G>C) c.162+1G>C (n.162+1G>C) n.1203+1G>C n.1125+1G>C n.1034+1G>C c.7542+1G>C (n.7542+1G>C) c.3510+1G>C (n.3510+1G>C) c.531+1G>C (n.531+1G>C) c.630+1G>C (n.630+1G>C) c.7530+1G>C (n.7530+1G>C) c.299+1G>C (n.299+1G>C) c.7527+1G>C (n.7527+1G>C) c.7539+1G>C (n.7539+1G>C) c.7518+1G>C (n.7518+1G>C) c.7173+1G>C (n.7173+1G>C) c.3519+1G>C (n.3519+1G>C) c.7413+1G>C (n.7413+1G>C) c.7404+1G>C (n.7404+1G>C) c.7419+1G>C (n.7419+1G>C) c.1716+1G>C (n.1716+1G>C) | |
| X | g.31773959C>T | CA412658570 | DMD | c.2388+1G>A (n.2388+1G>A) c.162+1G>A (n.162+1G>A) n.1203+1G>A n.1125+1G>A n.1034+1G>A c.7542+1G>A (n.7542+1G>A) c.3510+1G>A (n.3510+1G>A) c.531+1G>A (n.531+1G>A) c.630+1G>A (n.630+1G>A) c.7530+1G>A (n.7530+1G>A) c.299+1G>A (n.299+1G>A) c.7527+1G>A (n.7527+1G>A) c.7539+1G>A (n.7539+1G>A) c.7518+1G>A (n.7518+1G>A) c.7173+1G>A (n.7173+1G>A) c.3519+1G>A (n.3519+1G>A) c.7413+1G>A (n.7413+1G>A) c.7404+1G>A (n.7404+1G>A) c.7419+1G>A (n.7419+1G>A) c.1716+1G>A (n.1716+1G>A) | ClinVar dbSNP |
| X | g.31773960C>A | CA412658572 | DMD | c.2388G>T (p.Lys796Asn) c.162G>T (p.Lys54Asn) n.1203G>T n.1125G>T n.1034G>T c.7542G>T (p.Lys2514Asn) c.3510G>T (p.Lys1170Asn) c.531G>T (p.Lys177Asn) c.630G>T (p.Lys210Asn) c.7530G>T (p.Lys2510Asn) c.299G>T (n.299G>T) c.7527G>T (p.Lys2509Asn) c.7539G>T (p.Lys2513Asn) c.7518G>T (p.Lys2506Asn) c.7173G>T (p.Lys2391Asn) c.3519G>T (p.Lys1173Asn) c.7413G>T (p.Lys2471Asn) c.7404G>T (p.Lys2468Asn) c.7419G>T (p.Lys2473Asn) c.1716G>T (p.Lys572Asn) | |
| X | g.31773960C>G | CA412658574 | DMD | c.2388G>C (p.Lys796Asn) c.162G>C (p.Lys54Asn) n.1203G>C n.1125G>C n.1034G>C c.7542G>C (p.Lys2514Asn) c.3510G>C (p.Lys1170Asn) c.531G>C (p.Lys177Asn) c.630G>C (p.Lys210Asn) c.7530G>C (p.Lys2510Asn) c.299G>C (n.299G>C) c.7527G>C (p.Lys2509Asn) c.7539G>C (p.Lys2513Asn) c.7518G>C (p.Lys2506Asn) c.7173G>C (p.Lys2391Asn) c.3519G>C (p.Lys1173Asn) c.7413G>C (p.Lys2471Asn) c.7404G>C (p.Lys2468Asn) c.7419G>C (p.Lys2473Asn) c.1716G>C (p.Lys572Asn) | |
| X | g.31773960C>T | CA515859289 | DMD | c.2388G>A (p.Lys796=) c.162G>A (p.Lys54=) n.1203G>A n.1125G>A n.1034G>A c.7542G>A (p.Lys2514=) c.3510G>A (p.Lys1170=) c.531G>A (p.Lys177=) c.630G>A (p.Lys210=) c.7530G>A (p.Lys2510=) c.299G>A (n.299G>A) c.7527G>A (p.Lys2509=) c.7539G>A (p.Lys2513=) c.7518G>A (p.Lys2506=) c.7173G>A (p.Lys2391=) c.3519G>A (p.Lys1173=) c.7413G>A (p.Lys2471=) c.7404G>A (p.Lys2468=) c.7419G>A (p.Lys2473=) c.1716G>A (p.Lys572=) | |
| X | g.31773961T>A | CA412658576 | DMD | c.2387A>T (p.Lys796Met) c.161A>T (p.Lys54Met) n.1202A>T n.1124A>T n.1033A>T c.7541A>T (p.Lys2514Met) c.3509A>T (p.Lys1170Met) c.530A>T (p.Lys177Met) c.629A>T (p.Lys210Met) c.7529A>T (p.Lys2510Met) c.298A>T (n.298A>T) c.7526A>T (p.Lys2509Met) c.7538A>T (p.Lys2513Met) c.7517A>T (p.Lys2506Met) c.7172A>T (p.Lys2391Met) c.3518A>T (p.Lys1173Met) c.7412A>T (p.Lys2471Met) c.7403A>T (p.Lys2468Met) c.7418A>T (p.Lys2473Met) c.1715A>T (p.Lys572Met) | |
| X | g.31773961T>C | CA412658581 | DMD | c.2387A>G (p.Lys796Arg) c.161A>G (p.Lys54Arg) n.1202A>G n.1124A>G n.1033A>G c.7541A>G (p.Lys2514Arg) c.3509A>G (p.Lys1170Arg) c.530A>G (p.Lys177Arg) c.629A>G (p.Lys210Arg) c.7529A>G (p.Lys2510Arg) c.298A>G (n.298A>G) c.7526A>G (p.Lys2509Arg) c.7538A>G (p.Lys2513Arg) c.7517A>G (p.Lys2506Arg) c.7172A>G (p.Lys2391Arg) c.3518A>G (p.Lys1173Arg) c.7412A>G (p.Lys2471Arg) c.7403A>G (p.Lys2468Arg) c.7418A>G (p.Lys2473Arg) c.1715A>G (p.Lys572Arg) | |
| X | g.31773961T>G | CA412658583 | DMD | c.2387A>C (p.Lys796Thr) c.161A>C (p.Lys54Thr) n.1202A>C n.1124A>C n.1033A>C c.7541A>C (p.Lys2514Thr) c.3509A>C (p.Lys1170Thr) c.530A>C (p.Lys177Thr) c.629A>C (p.Lys210Thr) c.7529A>C (p.Lys2510Thr) c.298A>C (n.298A>C) c.7526A>C (p.Lys2509Thr) c.7538A>C (p.Lys2513Thr) c.7517A>C (p.Lys2506Thr) c.7172A>C (p.Lys2391Thr) c.3518A>C (p.Lys1173Thr) c.7412A>C (p.Lys2471Thr) c.7403A>C (p.Lys2468Thr) c.7418A>C (p.Lys2473Thr) c.1715A>C (p.Lys572Thr) | |
| X | g.31773962T>A | CA412658586 | DMD | c.2386A>T (p.Lys796Ter) c.160A>T (p.Lys54Ter) n.1201A>T n.1123A>T n.1032A>T c.7540A>T (p.Lys2514Ter) c.3508A>T (p.Lys1170Ter) c.529A>T (p.Lys177Ter) c.628A>T (p.Lys210Ter) c.7528A>T (p.Lys2510Ter) c.297A>T (n.297A>T) c.7525A>T (p.Lys2509Ter) c.7537A>T (p.Lys2513Ter) c.7516A>T (p.Lys2506Ter) c.7171A>T (p.Lys2391Ter) c.3517A>T (p.Lys1173Ter) c.7411A>T (p.Lys2471Ter) c.7402A>T (p.Lys2468Ter) c.7417A>T (p.Lys2473Ter) c.1714A>T (p.Lys572Ter) | |
| X | g.31773962T>C | CA412658587 | DMD | c.2386A>G (p.Lys796Glu) c.160A>G (p.Lys54Glu) n.1201A>G n.1123A>G n.1032A>G c.7540A>G (p.Lys2514Glu) c.3508A>G (p.Lys1170Glu) c.529A>G (p.Lys177Glu) c.628A>G (p.Lys210Glu) c.7528A>G (p.Lys2510Glu) c.297A>G (n.297A>G) c.7525A>G (p.Lys2509Glu) c.7537A>G (p.Lys2513Glu) c.7516A>G (p.Lys2506Glu) c.7171A>G (p.Lys2391Glu) c.3517A>G (p.Lys1173Glu) c.7411A>G (p.Lys2471Glu) c.7402A>G (p.Lys2468Glu) c.7417A>G (p.Lys2473Glu) c.1714A>G (p.Lys572Glu) | |
| X | g.31773962T>G | CA412658590 | DMD | c.2386A>C (p.Lys796Gln) c.160A>C (p.Lys54Gln) n.1201A>C n.1123A>C n.1032A>C c.7540A>C (p.Lys2514Gln) c.3508A>C (p.Lys1170Gln) c.529A>C (p.Lys177Gln) c.628A>C (p.Lys210Gln) c.7528A>C (p.Lys2510Gln) c.297A>C (n.297A>C) c.7525A>C (p.Lys2509Gln) c.7537A>C (p.Lys2513Gln) c.7516A>C (p.Lys2506Gln) c.7171A>C (p.Lys2391Gln) c.3517A>C (p.Lys1173Gln) c.7411A>C (p.Lys2471Gln) c.7402A>C (p.Lys2468Gln) c.7417A>C (p.Lys2473Gln) c.1714A>C (p.Lys572Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31773962T= | CA2422548604 | DMD | c.2386A= (p.Lys796=) c.160A= (p.Lys54=) n.1201A= n.1123A= n.1032A= c.7540A= (p.Lys2514=) c.3508A= (p.Lys1170=) c.529A= (p.Lys177=) c.628A= (p.Lys210=) c.7528A= (p.Lys2510=) c.297A= (n.297A=) c.7525A= (p.Lys2509=) c.7537A= (p.Lys2513=) c.7516A= (p.Lys2506=) c.7171A= (p.Lys2391=) c.3517A= (p.Lys1173=) c.7411A= (p.Lys2471=) c.7402A= (p.Lys2468=) c.7417A= (p.Lys2473=) c.1714A= (p.Lys572=) | |
| X | g.31773963C>A | CA412658591 | DMD | c.2385G>T (p.Gln795His) c.159G>T (p.Gln53His) n.1200G>T n.1122G>T n.1031G>T c.7539G>T (p.Gln2513His) c.3507G>T (p.Gln1169His) c.528G>T (p.Gln176His) c.627G>T (p.Gln209His) c.7527G>T (p.Gln2509His) c.296G>T (n.296G>T) c.7524G>T (p.Gln2508His) c.7536G>T (p.Gln2512His) c.7515G>T (p.Gln2505His) c.7170G>T (p.Gln2390His) c.3516G>T (p.Gln1172His) c.7410G>T (p.Gln2470His) c.7401G>T (p.Gln2467His) c.7416G>T (p.Gln2472His) c.1713G>T (p.Gln571His) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31773963C>G | CA412658593 | DMD | c.2385G>C (p.Gln795His) c.159G>C (p.Gln53His) n.1200G>C n.1122G>C n.1031G>C c.7539G>C (p.Gln2513His) c.3507G>C (p.Gln1169His) c.528G>C (p.Gln176His) c.627G>C (p.Gln209His) c.7527G>C (p.Gln2509His) c.296G>C (n.296G>C) c.7524G>C (p.Gln2508His) c.7536G>C (p.Gln2512His) c.7515G>C (p.Gln2505His) c.7170G>C (p.Gln2390His) c.3516G>C (p.Gln1172His) c.7410G>C (p.Gln2470His) c.7401G>C (p.Gln2467His) c.7416G>C (p.Gln2472His) c.1713G>C (p.Gln571His) | |
| X | g.31773963C>T | CA515859290 | DMD | c.2385G>A (p.Gln795=) c.159G>A (p.Gln53=) n.1200G>A n.1122G>A n.1031G>A c.7539G>A (p.Gln2513=) c.3507G>A (p.Gln1169=) c.528G>A (p.Gln176=) c.627G>A (p.Gln209=) c.7527G>A (p.Gln2509=) c.296G>A (n.296G>A) c.7524G>A (p.Gln2508=) c.7536G>A (p.Gln2512=) c.7515G>A (p.Gln2505=) c.7170G>A (p.Gln2390=) c.3516G>A (p.Gln1172=) c.7410G>A (p.Gln2470=) c.7401G>A (p.Gln2467=) c.7416G>A (p.Gln2472=) c.1713G>A (p.Gln571=) | |
| X | g.31773964T>A | CA412658595 | DMD | c.2384A>T (p.Gln795Leu) c.158A>T (p.Gln53Leu) n.1199A>T n.1121A>T n.1030A>T c.7538A>T (p.Gln2513Leu) c.3506A>T (p.Gln1169Leu) c.527A>T (p.Gln176Leu) c.626A>T (p.Gln209Leu) c.7526A>T (p.Gln2509Leu) c.295A>T (n.295A>T) c.7523A>T (p.Gln2508Leu) c.7535A>T (p.Gln2512Leu) c.7514A>T (p.Gln2505Leu) c.7169A>T (p.Gln2390Leu) c.3515A>T (p.Gln1172Leu) c.7409A>T (p.Gln2470Leu) c.7400A>T (p.Gln2467Leu) c.7415A>T (p.Gln2472Leu) c.1712A>T (p.Gln571Leu) | |
| X | g.31773964T>C | CA412658598 | DMD | c.2384A>G (p.Gln795Arg) c.158A>G (p.Gln53Arg) n.1199A>G n.1121A>G n.1030A>G c.7538A>G (p.Gln2513Arg) c.3506A>G (p.Gln1169Arg) c.527A>G (p.Gln176Arg) c.626A>G (p.Gln209Arg) c.7526A>G (p.Gln2509Arg) c.295A>G (n.295A>G) c.7523A>G (p.Gln2508Arg) c.7535A>G (p.Gln2512Arg) c.7514A>G (p.Gln2505Arg) c.7169A>G (p.Gln2390Arg) c.3515A>G (p.Gln1172Arg) c.7409A>G (p.Gln2470Arg) c.7400A>G (p.Gln2467Arg) c.7415A>G (p.Gln2472Arg) c.1712A>G (p.Gln571Arg) | |
| X | g.31773964T>G | CA412658597 | DMD | c.2384A>C (p.Gln795Pro) c.158A>C (p.Gln53Pro) n.1199A>C n.1121A>C n.1030A>C c.7538A>C (p.Gln2513Pro) c.3506A>C (p.Gln1169Pro) c.527A>C (p.Gln176Pro) c.626A>C (p.Gln209Pro) c.7526A>C (p.Gln2509Pro) c.295A>C (n.295A>C) c.7523A>C (p.Gln2508Pro) c.7535A>C (p.Gln2512Pro) c.7514A>C (p.Gln2505Pro) c.7169A>C (p.Gln2390Pro) c.3515A>C (p.Gln1172Pro) c.7409A>C (p.Gln2470Pro) c.7400A>C (p.Gln2467Pro) c.7415A>C (p.Gln2472Pro) c.1712A>C (p.Gln571Pro) | ClinVar dbSNP |
| X | g.31773964T= | CA2422548605 | DMD | c.2384A= (p.Gln795=) c.158A= (p.Gln53=) n.1199A= n.1121A= n.1030A= c.7538A= (p.Gln2513=) c.3506A= (p.Gln1169=) c.527A= (p.Gln176=) c.626A= (p.Gln209=) c.7526A= (p.Gln2509=) c.295A= (n.295A=) c.7523A= (p.Gln2508=) c.7535A= (p.Gln2512=) c.7514A= (p.Gln2505=) c.7169A= (p.Gln2390=) c.3515A= (p.Gln1172=) c.7409A= (p.Gln2470=) c.7400A= (p.Gln2467=) c.7415A= (p.Gln2472=) c.1712A= (p.Gln571=) | |
| X | g.31773964dup | CA2695232434 | DMD | c.2384dup (p.Lys796GlufsTer?) c.158dup (p.Lys54GlufsTer?) n.1199dup n.1121dup n.1030dup c.7538dup (p.Lys2514GlufsTer?) c.3506dup (p.Lys1170GlufsTer?) c.527dup (p.Lys177GlufsTer?) c.626dup (p.Lys210GlufsTer?) c.7526dup (p.Lys2510GlufsTer?) c.295dup (n.295dup) c.7523dup (p.Lys2509GlufsTer?) c.7535dup (p.Lys2513GlufsTer?) c.7514dup (p.Lys2506GlufsTer?) c.7169dup (p.Lys2391GlufsTer?) c.3515dup (p.Lys1173GlufsTer?) c.7409dup (p.Lys2471GlufsTer?) c.7400dup (p.Lys2468GlufsTer?) c.7415dup (p.Lys2473GlufsTer?) c.1712dup (p.Lys572GlufsTer?) | |
| X | g.31773965G>A | CA412658600 | DMD | c.2383C>T (p.Gln795Ter) c.157C>T (p.Gln53Ter) n.1198C>T n.1120C>T n.1029C>T c.7537C>T (p.Gln2513Ter) c.3505C>T (p.Gln1169Ter) c.526C>T (p.Gln176Ter) c.625C>T (p.Gln209Ter) c.7525C>T (p.Gln2509Ter) c.294C>T (n.294C>T) c.7522C>T (p.Gln2508Ter) c.7534C>T (p.Gln2512Ter) c.7513C>T (p.Gln2505Ter) c.7168C>T (p.Gln2390Ter) c.3514C>T (p.Gln1172Ter) c.7408C>T (p.Gln2470Ter) c.7399C>T (p.Gln2467Ter) c.7414C>T (p.Gln2472Ter) c.1711C>T (p.Gln571Ter) | dbSNP |
| X | g.31773965G>C | CA412658601 | DMD | c.2383C>G (p.Gln795Glu) c.157C>G (p.Gln53Glu) n.1198C>G n.1120C>G n.1029C>G c.7537C>G (p.Gln2513Glu) c.3505C>G (p.Gln1169Glu) c.526C>G (p.Gln176Glu) c.625C>G (p.Gln209Glu) c.7525C>G (p.Gln2509Glu) c.294C>G (n.294C>G) c.7522C>G (p.Gln2508Glu) c.7534C>G (p.Gln2512Glu) c.7513C>G (p.Gln2505Glu) c.7168C>G (p.Gln2390Glu) c.3514C>G (p.Gln1172Glu) c.7408C>G (p.Gln2470Glu) c.7399C>G (p.Gln2467Glu) c.7414C>G (p.Gln2472Glu) c.1711C>G (p.Gln571Glu) | |
| X | g.31773965G>T | CA412658603 | DMD | c.2383C>A (p.Gln795Lys) c.157C>A (p.Gln53Lys) n.1198C>A n.1120C>A n.1029C>A c.7537C>A (p.Gln2513Lys) c.3505C>A (p.Gln1169Lys) c.526C>A (p.Gln176Lys) c.625C>A (p.Gln209Lys) c.7525C>A (p.Gln2509Lys) c.294C>A (n.294C>A) c.7522C>A (p.Gln2508Lys) c.7534C>A (p.Gln2512Lys) c.7513C>A (p.Gln2505Lys) c.7168C>A (p.Gln2390Lys) c.3514C>A (p.Gln1172Lys) c.7408C>A (p.Gln2470Lys) c.7399C>A (p.Gln2467Lys) c.7414C>A (p.Gln2472Lys) c.1711C>A (p.Gln571Lys) | |
| X | g.31773966C>A | CA412658605 | DMD | c.2382G>T (p.Lys794Asn) c.156G>T (p.Lys52Asn) n.1197G>T n.1119G>T n.1028G>T c.7536G>T (p.Lys2512Asn) c.3504G>T (p.Lys1168Asn) c.525G>T (p.Lys175Asn) c.624G>T (p.Lys208Asn) c.7524G>T (p.Lys2508Asn) c.293G>T (n.293G>T) c.7521G>T (p.Lys2507Asn) c.7533G>T (p.Lys2511Asn) c.7512G>T (p.Lys2504Asn) c.7167G>T (p.Lys2389Asn) c.3513G>T (p.Lys1171Asn) c.7407G>T (p.Lys2469Asn) c.7398G>T (p.Lys2466Asn) c.7413G>T (p.Lys2471Asn) c.1710G>T (p.Lys570Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31773966C= | CA2422548606 | DMD | c.2382G= (p.Lys794=) c.156G= (p.Lys52=) n.1197G= n.1119G= n.1028G= c.7536G= (p.Lys2512=) c.3504G= (p.Lys1168=) c.525G= (p.Lys175=) c.624G= (p.Lys208=) c.7524G= (p.Lys2508=) c.293G= (n.293G=) c.7521G= (p.Lys2507=) c.7533G= (p.Lys2511=) c.7512G= (p.Lys2504=) c.7167G= (p.Lys2389=) c.3513G= (p.Lys1171=) c.7407G= (p.Lys2469=) c.7398G= (p.Lys2466=) c.7413G= (p.Lys2471=) c.1710G= (p.Lys570=) | |
| X | g.31773966C>G | CA412658607 | DMD | c.2382G>C (p.Lys794Asn) c.156G>C (p.Lys52Asn) n.1197G>C n.1119G>C n.1028G>C c.7536G>C (p.Lys2512Asn) c.3504G>C (p.Lys1168Asn) c.525G>C (p.Lys175Asn) c.624G>C (p.Lys208Asn) c.7524G>C (p.Lys2508Asn) c.293G>C (n.293G>C) c.7521G>C (p.Lys2507Asn) c.7533G>C (p.Lys2511Asn) c.7512G>C (p.Lys2504Asn) c.7167G>C (p.Lys2389Asn) c.3513G>C (p.Lys1171Asn) c.7407G>C (p.Lys2469Asn) c.7398G>C (p.Lys2466Asn) c.7413G>C (p.Lys2471Asn) c.1710G>C (p.Lys570Asn) | |
| X | g.31773966C>T | CA515859291 | DMD | c.2382G>A (p.Lys794=) c.156G>A (p.Lys52=) n.1197G>A n.1119G>A n.1028G>A c.7536G>A (p.Lys2512=) c.3504G>A (p.Lys1168=) c.525G>A (p.Lys175=) c.624G>A (p.Lys208=) c.7524G>A (p.Lys2508=) c.293G>A (n.293G>A) c.7521G>A (p.Lys2507=) c.7533G>A (p.Lys2511=) c.7512G>A (p.Lys2504=) c.7167G>A (p.Lys2389=) c.3513G>A (p.Lys1171=) c.7407G>A (p.Lys2469=) c.7398G>A (p.Lys2466=) c.7413G>A (p.Lys2471=) c.1710G>A (p.Lys570=) | ClinVar |
| X | g.31773967T>A | CA412658608 | DMD | c.2381A>T (p.Lys794Met) c.155A>T (p.Lys52Met) n.1196A>T n.1118A>T n.1027A>T c.7535A>T (p.Lys2512Met) c.3503A>T (p.Lys1168Met) c.524A>T (p.Lys175Met) c.623A>T (p.Lys208Met) c.7523A>T (p.Lys2508Met) c.292A>T (n.292A>T) c.7520A>T (p.Lys2507Met) c.7532A>T (p.Lys2511Met) c.7511A>T (p.Lys2504Met) c.7166A>T (p.Lys2389Met) c.3512A>T (p.Lys1171Met) c.7406A>T (p.Lys2469Met) c.7397A>T (p.Lys2466Met) c.7412A>T (p.Lys2471Met) c.1709A>T (p.Lys570Met) | |
| X | g.31773967T>C | CA412658609 | DMD | c.2381A>G (p.Lys794Arg) c.155A>G (p.Lys52Arg) n.1196A>G n.1118A>G n.1027A>G c.7535A>G (p.Lys2512Arg) c.3503A>G (p.Lys1168Arg) c.524A>G (p.Lys175Arg) c.623A>G (p.Lys208Arg) c.7523A>G (p.Lys2508Arg) c.292A>G (n.292A>G) c.7520A>G (p.Lys2507Arg) c.7532A>G (p.Lys2511Arg) c.7511A>G (p.Lys2504Arg) c.7166A>G (p.Lys2389Arg) c.3512A>G (p.Lys1171Arg) c.7406A>G (p.Lys2469Arg) c.7397A>G (p.Lys2466Arg) c.7412A>G (p.Lys2471Arg) c.1709A>G (p.Lys570Arg) | |
| X | g.31773967T>G | CA412658611 | DMD | c.2381A>C (p.Lys794Thr) c.155A>C (p.Lys52Thr) n.1196A>C n.1118A>C n.1027A>C c.7535A>C (p.Lys2512Thr) c.3503A>C (p.Lys1168Thr) c.524A>C (p.Lys175Thr) c.623A>C (p.Lys208Thr) c.7523A>C (p.Lys2508Thr) c.292A>C (n.292A>C) c.7520A>C (p.Lys2507Thr) c.7532A>C (p.Lys2511Thr) c.7511A>C (p.Lys2504Thr) c.7166A>C (p.Lys2389Thr) c.3512A>C (p.Lys1171Thr) c.7406A>C (p.Lys2469Thr) c.7397A>C (p.Lys2466Thr) c.7412A>C (p.Lys2471Thr) c.1709A>C (p.Lys570Thr) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31773968T>A | CA412658613 | DMD | c.2380A>T (p.Lys794Ter) c.154A>T (p.Lys52Ter) n.1195A>T n.1117A>T n.1026A>T c.7534A>T (p.Lys2512Ter) c.3502A>T (p.Lys1168Ter) c.523A>T (p.Lys175Ter) c.622A>T (p.Lys208Ter) c.7522A>T (p.Lys2508Ter) c.291A>T (n.291A>T) c.7519A>T (p.Lys2507Ter) c.7531A>T (p.Lys2511Ter) c.7510A>T (p.Lys2504Ter) c.7165A>T (p.Lys2389Ter) c.3511A>T (p.Lys1171Ter) c.7405A>T (p.Lys2469Ter) c.7396A>T (p.Lys2466Ter) c.7411A>T (p.Lys2471Ter) c.1708A>T (p.Lys570Ter) | |
| X | g.31773968T>C | CA412658614 | DMD | c.2380A>G (p.Lys794Glu) c.154A>G (p.Lys52Glu) n.1195A>G n.1117A>G n.1026A>G c.7534A>G (p.Lys2512Glu) c.3502A>G (p.Lys1168Glu) c.523A>G (p.Lys175Glu) c.622A>G (p.Lys208Glu) c.7522A>G (p.Lys2508Glu) c.291A>G (n.291A>G) c.7519A>G (p.Lys2507Glu) c.7531A>G (p.Lys2511Glu) c.7510A>G (p.Lys2504Glu) c.7165A>G (p.Lys2389Glu) c.3511A>G (p.Lys1171Glu) c.7405A>G (p.Lys2469Glu) c.7396A>G (p.Lys2466Glu) c.7411A>G (p.Lys2471Glu) c.1708A>G (p.Lys570Glu) | |
| X | g.31773968T>G | CA412658616 | DMD | c.2380A>C (p.Lys794Gln) c.154A>C (p.Lys52Gln) n.1195A>C n.1117A>C n.1026A>C c.7534A>C (p.Lys2512Gln) c.3502A>C (p.Lys1168Gln) c.523A>C (p.Lys175Gln) c.622A>C (p.Lys208Gln) c.7522A>C (p.Lys2508Gln) c.291A>C (n.291A>C) c.7519A>C (p.Lys2507Gln) c.7531A>C (p.Lys2511Gln) c.7510A>C (p.Lys2504Gln) c.7165A>C (p.Lys2389Gln) c.3511A>C (p.Lys1171Gln) c.7405A>C (p.Lys2469Gln) c.7396A>C (p.Lys2466Gln) c.7411A>C (p.Lys2471Gln) c.1708A>C (p.Lys570Gln) | |
| X | g.31773969G>A | CA515859292 | DMD | c.2379C>T (p.Ile793=) c.153C>T (p.Ile51=) n.1194C>T n.1116C>T n.1025C>T c.7533C>T (p.Ile2511=) c.3501C>T (p.Ile1167=) c.522C>T (p.Ile174=) c.621C>T (p.Ile207=) c.7521C>T (p.Ile2507=) c.290C>T (n.290C>T) c.7518C>T (p.Ile2506=) c.7530C>T (p.Ile2510=) c.7509C>T (p.Ile2503=) c.7164C>T (p.Ile2388=) c.3510C>T (p.Ile1170=) c.7404C>T (p.Ile2468=) c.7395C>T (p.Ile2465=) c.7410C>T (p.Ile2470=) c.1707C>T (p.Ile569=) | |
| X | g.31773969G>C | CA412658618 | DMD | c.2379C>G (p.Ile793Met) c.153C>G (p.Ile51Met) n.1194C>G n.1116C>G n.1025C>G c.7533C>G (p.Ile2511Met) c.3501C>G (p.Ile1167Met) c.522C>G (p.Ile174Met) c.621C>G (p.Ile207Met) c.7521C>G (p.Ile2507Met) c.290C>G (n.290C>G) c.7518C>G (p.Ile2506Met) c.7530C>G (p.Ile2510Met) c.7509C>G (p.Ile2503Met) c.7164C>G (p.Ile2388Met) c.3510C>G (p.Ile1170Met) c.7404C>G (p.Ile2468Met) c.7395C>G (p.Ile2465Met) c.7410C>G (p.Ile2470Met) c.1707C>G (p.Ile569Met) | |
| X | g.31773969G>T | CA515859293 | DMD | c.2379C>A (p.Ile793=) c.153C>A (p.Ile51=) n.1194C>A n.1116C>A n.1025C>A c.7533C>A (p.Ile2511=) c.3501C>A (p.Ile1167=) c.522C>A (p.Ile174=) c.621C>A (p.Ile207=) c.7521C>A (p.Ile2507=) c.290C>A (n.290C>A) c.7518C>A (p.Ile2506=) c.7530C>A (p.Ile2510=) c.7509C>A (p.Ile2503=) c.7164C>A (p.Ile2388=) c.3510C>A (p.Ile1170=) c.7404C>A (p.Ile2468=) c.7395C>A (p.Ile2465=) c.7410C>A (p.Ile2470=) c.1707C>A (p.Ile569=) | |
| X | g.31773970A>C | CA412658624 | DMD | c.2378T>G (p.Ile793Ser) c.152T>G (p.Ile51Ser) n.1193T>G n.1115T>G n.1024T>G c.7532T>G (p.Ile2511Ser) c.3500T>G (p.Ile1167Ser) c.521T>G (p.Ile174Ser) c.620T>G (p.Ile207Ser) c.7520T>G (p.Ile2507Ser) c.289T>G (n.289T>G) c.7517T>G (p.Ile2506Ser) c.7529T>G (p.Ile2510Ser) c.7508T>G (p.Ile2503Ser) c.7163T>G (p.Ile2388Ser) c.3509T>G (p.Ile1170Ser) c.7403T>G (p.Ile2468Ser) c.7394T>G (p.Ile2465Ser) c.7409T>G (p.Ile2470Ser) c.1706T>G (p.Ile569Ser) | |
| X | g.31773970A>G | CA412658620 | DMD | c.2378T>C (p.Ile793Thr) c.152T>C (p.Ile51Thr) n.1193T>C n.1115T>C n.1024T>C c.7532T>C (p.Ile2511Thr) c.3500T>C (p.Ile1167Thr) c.521T>C (p.Ile174Thr) c.620T>C (p.Ile207Thr) c.7520T>C (p.Ile2507Thr) c.289T>C (n.289T>C) c.7517T>C (p.Ile2506Thr) c.7529T>C (p.Ile2510Thr) c.7508T>C (p.Ile2503Thr) c.7163T>C (p.Ile2388Thr) c.3509T>C (p.Ile1170Thr) c.7403T>C (p.Ile2468Thr) c.7394T>C (p.Ile2465Thr) c.7409T>C (p.Ile2470Thr) c.1706T>C (p.Ile569Thr) | |
| X | g.31773970A>T | CA412658622 | DMD | c.2378T>A (p.Ile793Asn) c.152T>A (p.Ile51Asn) n.1193T>A n.1115T>A n.1024T>A c.7532T>A (p.Ile2511Asn) c.3500T>A (p.Ile1167Asn) c.521T>A (p.Ile174Asn) c.620T>A (p.Ile207Asn) c.7520T>A (p.Ile2507Asn) c.289T>A (n.289T>A) c.7517T>A (p.Ile2506Asn) c.7529T>A (p.Ile2510Asn) c.7508T>A (p.Ile2503Asn) c.7163T>A (p.Ile2388Asn) c.3509T>A (p.Ile1170Asn) c.7403T>A (p.Ile2468Asn) c.7394T>A (p.Ile2465Asn) c.7409T>A (p.Ile2470Asn) c.1706T>A (p.Ile569Asn) | |
| X | g.31773971T>A | CA412658626 | DMD | c.2377A>T (p.Ile793Phe) c.151A>T (p.Ile51Phe) n.1192A>T n.1114A>T n.1023A>T c.7531A>T (p.Ile2511Phe) c.3499A>T (p.Ile1167Phe) c.520A>T (p.Ile174Phe) c.619A>T (p.Ile207Phe) c.7519A>T (p.Ile2507Phe) c.288A>T (n.288A>T) c.7516A>T (p.Ile2506Phe) c.7528A>T (p.Ile2510Phe) c.7507A>T (p.Ile2503Phe) c.7162A>T (p.Ile2388Phe) c.3508A>T (p.Ile1170Phe) c.7402A>T (p.Ile2468Phe) c.7393A>T (p.Ile2465Phe) c.7408A>T (p.Ile2470Phe) c.1705A>T (p.Ile569Phe) | |
| X | g.31773971T>C | CA412658628 | DMD | c.2377A>G (p.Ile793Val) c.151A>G (p.Ile51Val) n.1192A>G n.1114A>G n.1023A>G c.7531A>G (p.Ile2511Val) c.3499A>G (p.Ile1167Val) c.520A>G (p.Ile174Val) c.619A>G (p.Ile207Val) c.7519A>G (p.Ile2507Val) c.288A>G (n.288A>G) c.7516A>G (p.Ile2506Val) c.7528A>G (p.Ile2510Val) c.7507A>G (p.Ile2503Val) c.7162A>G (p.Ile2388Val) c.3508A>G (p.Ile1170Val) c.7402A>G (p.Ile2468Val) c.7393A>G (p.Ile2465Val) c.7408A>G (p.Ile2470Val) c.1705A>G (p.Ile569Val) | |
| X | g.31773971T>G | CA412658630 | DMD | c.2377A>C (p.Ile793Leu) c.151A>C (p.Ile51Leu) n.1192A>C n.1114A>C n.1023A>C c.7531A>C (p.Ile2511Leu) c.3499A>C (p.Ile1167Leu) c.520A>C (p.Ile174Leu) c.619A>C (p.Ile207Leu) c.7519A>C (p.Ile2507Leu) c.288A>C (n.288A>C) c.7516A>C (p.Ile2506Leu) c.7528A>C (p.Ile2510Leu) c.7507A>C (p.Ile2503Leu) c.7162A>C (p.Ile2388Leu) c.3508A>C (p.Ile1170Leu) c.7402A>C (p.Ile2468Leu) c.7393A>C (p.Ile2465Leu) c.7408A>C (p.Ile2470Leu) c.1705A>C (p.Ile569Leu) | gnomAD v4 |
| X | g.31773972G>A | CA515859294 | DMD | c.2376C>T (p.Ile792=) c.150C>T (p.Ile50=) n.1191C>T n.1113C>T n.1022C>T c.7530C>T (p.Ile2510=) c.3498C>T (p.Ile1166=) c.519C>T (p.Ile173=) c.618C>T (p.Ile206=) c.7518C>T (p.Ile2506=) c.287C>T (n.287C>T) c.7515C>T (p.Ile2505=) c.7527C>T (p.Ile2509=) c.7506C>T (p.Ile2502=) c.7161C>T (p.Ile2387=) c.3507C>T (p.Ile1169=) c.7401C>T (p.Ile2467=) c.7392C>T (p.Ile2464=) c.7407C>T (p.Ile2469=) c.1704C>T (p.Ile568=) | gnomAD v4 |
| X | g.31773972G>C | CA412658632 | DMD | c.2376C>G (p.Ile792Met) c.150C>G (p.Ile50Met) n.1191C>G n.1113C>G n.1022C>G c.7530C>G (p.Ile2510Met) c.3498C>G (p.Ile1166Met) c.519C>G (p.Ile173Met) c.618C>G (p.Ile206Met) c.7518C>G (p.Ile2506Met) c.287C>G (n.287C>G) c.7515C>G (p.Ile2505Met) c.7527C>G (p.Ile2509Met) c.7506C>G (p.Ile2502Met) c.7161C>G (p.Ile2387Met) c.3507C>G (p.Ile1169Met) c.7401C>G (p.Ile2467Met) c.7392C>G (p.Ile2464Met) c.7407C>G (p.Ile2469Met) c.1704C>G (p.Ile568Met) | |
| X | g.31773972G>T | CA515859295 | DMD | c.2376C>A (p.Ile792=) c.150C>A (p.Ile50=) n.1191C>A n.1113C>A n.1022C>A c.7530C>A (p.Ile2510=) c.3498C>A (p.Ile1166=) c.519C>A (p.Ile173=) c.618C>A (p.Ile206=) c.7518C>A (p.Ile2506=) c.287C>A (n.287C>A) c.7515C>A (p.Ile2505=) c.7527C>A (p.Ile2509=) c.7506C>A (p.Ile2502=) c.7161C>A (p.Ile2387=) c.3507C>A (p.Ile1169=) c.7401C>A (p.Ile2467=) c.7392C>A (p.Ile2464=) c.7407C>A (p.Ile2469=) c.1704C>A (p.Ile568=) | |
| X | g.31773973A>C | CA412658635 | DMD | c.2375T>G (p.Ile792Ser) c.149T>G (p.Ile50Ser) n.1190T>G n.1112T>G n.1021T>G c.7529T>G (p.Ile2510Ser) c.3497T>G (p.Ile1166Ser) c.518T>G (p.Ile173Ser) c.617T>G (p.Ile206Ser) c.7517T>G (p.Ile2506Ser) c.286T>G (n.286T>G) c.7514T>G (p.Ile2505Ser) c.7526T>G (p.Ile2509Ser) c.7505T>G (p.Ile2502Ser) c.7160T>G (p.Ile2387Ser) c.3506T>G (p.Ile1169Ser) c.7400T>G (p.Ile2467Ser) c.7391T>G (p.Ile2464Ser) c.7406T>G (p.Ile2469Ser) c.1703T>G (p.Ile568Ser) | |
| X | g.31773973A>G | CA412658636 | DMD | c.2375T>C (p.Ile792Thr) c.149T>C (p.Ile50Thr) n.1190T>C n.1112T>C n.1021T>C c.7529T>C (p.Ile2510Thr) c.3497T>C (p.Ile1166Thr) c.518T>C (p.Ile173Thr) c.617T>C (p.Ile206Thr) c.7517T>C (p.Ile2506Thr) c.286T>C (n.286T>C) c.7514T>C (p.Ile2505Thr) c.7526T>C (p.Ile2509Thr) c.7505T>C (p.Ile2502Thr) c.7160T>C (p.Ile2387Thr) c.3506T>C (p.Ile1169Thr) c.7400T>C (p.Ile2467Thr) c.7391T>C (p.Ile2464Thr) c.7406T>C (p.Ile2469Thr) c.1703T>C (p.Ile568Thr) | |
| X | g.31773973A>T | CA412658637 | DMD | c.2375T>A (p.Ile792Asn) c.149T>A (p.Ile50Asn) n.1190T>A n.1112T>A n.1021T>A c.7529T>A (p.Ile2510Asn) c.3497T>A (p.Ile1166Asn) c.518T>A (p.Ile173Asn) c.617T>A (p.Ile206Asn) c.7517T>A (p.Ile2506Asn) c.286T>A (n.286T>A) c.7514T>A (p.Ile2505Asn) c.7526T>A (p.Ile2509Asn) c.7505T>A (p.Ile2502Asn) c.7160T>A (p.Ile2387Asn) c.3506T>A (p.Ile1169Asn) c.7400T>A (p.Ile2467Asn) c.7391T>A (p.Ile2464Asn) c.7406T>A (p.Ile2469Asn) c.1703T>A (p.Ile568Asn) | |
| X | g.31773974T>A | CA412658639 | DMD | c.2374A>T (p.Ile792Phe) c.148A>T (p.Ile50Phe) n.1189A>T n.1111A>T n.1020A>T c.7528A>T (p.Ile2510Phe) c.3496A>T (p.Ile1166Phe) c.517A>T (p.Ile173Phe) c.616A>T (p.Ile206Phe) c.7516A>T (p.Ile2506Phe) c.285A>T (n.285A>T) c.7513A>T (p.Ile2505Phe) c.7525A>T (p.Ile2509Phe) c.7504A>T (p.Ile2502Phe) c.7159A>T (p.Ile2387Phe) c.3505A>T (p.Ile1169Phe) c.7399A>T (p.Ile2467Phe) c.7390A>T (p.Ile2464Phe) c.7405A>T (p.Ile2469Phe) c.1702A>T (p.Ile568Phe) | |
| X | g.31773974T>C | CA10378264 | DMD | c.2374A>G (p.Ile792Val) c.148A>G (p.Ile50Val) n.1189A>G n.1111A>G n.1020A>G c.7528A>G (p.Ile2510Val) c.3496A>G (p.Ile1166Val) c.517A>G (p.Ile173Val) c.616A>G (p.Ile206Val) c.7516A>G (p.Ile2506Val) c.285A>G (n.285A>G) c.7513A>G (p.Ile2505Val) c.7525A>G (p.Ile2509Val) c.7504A>G (p.Ile2502Val) c.7159A>G (p.Ile2387Val) c.3505A>G (p.Ile1169Val) c.7399A>G (p.Ile2467Val) c.7390A>G (p.Ile2464Val) c.7405A>G (p.Ile2469Val) c.1702A>G (p.Ile568Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31773974T>G | CA412658641 | DMD | c.2374A>C (p.Ile792Leu) c.148A>C (p.Ile50Leu) n.1189A>C n.1111A>C n.1020A>C c.7528A>C (p.Ile2510Leu) c.3496A>C (p.Ile1166Leu) c.517A>C (p.Ile173Leu) c.616A>C (p.Ile206Leu) c.7516A>C (p.Ile2506Leu) c.285A>C (n.285A>C) c.7513A>C (p.Ile2505Leu) c.7525A>C (p.Ile2509Leu) c.7504A>C (p.Ile2502Leu) c.7159A>C (p.Ile2387Leu) c.3505A>C (p.Ile1169Leu) c.7399A>C (p.Ile2467Leu) c.7390A>C (p.Ile2464Leu) c.7405A>C (p.Ile2469Leu) c.1702A>C (p.Ile568Leu) | |
| X | g.31773974T= | CA2422548607 | DMD | c.2374A= (p.Ile792=) c.148A= (p.Ile50=) n.1189A= n.1111A= n.1020A= c.7528A= (p.Ile2510=) c.3496A= (p.Ile1166=) c.517A= (p.Ile173=) c.616A= (p.Ile206=) c.7516A= (p.Ile2506=) c.285A= (n.285A=) c.7513A= (p.Ile2505=) c.7525A= (p.Ile2509=) c.7504A= (p.Ile2502=) c.7159A= (p.Ile2387=) c.3505A= (p.Ile1169=) c.7399A= (p.Ile2467=) c.7390A= (p.Ile2464=) c.7405A= (p.Ile2469=) c.1702A= (p.Ile568=) | |
| X | g.31773975C>A | CA412658644 | DMD | c.2373G>T (p.Met791Ile) c.147G>T (p.Met49Ile) n.1188G>T n.1110G>T n.1019G>T c.7527G>T (p.Met2509Ile) c.3495G>T (p.Met1165Ile) c.516G>T (p.Met172Ile) c.615G>T (p.Met205Ile) c.7515G>T (p.Met2505Ile) c.284G>T (n.284G>T) c.7512G>T (p.Met2504Ile) c.7524G>T (p.Met2508Ile) c.7503G>T (p.Met2501Ile) c.7158G>T (p.Met2386Ile) c.3504G>T (p.Met1168Ile) c.7398G>T (p.Met2466Ile) c.7389G>T (p.Met2463Ile) c.7404G>T (p.Met2468Ile) c.1701G>T (p.Met567Ile) | |
| X | g.31773975C>G | CA412658643 | DMD | c.2373G>C (p.Met791Ile) c.147G>C (p.Met49Ile) n.1188G>C n.1110G>C n.1019G>C c.7527G>C (p.Met2509Ile) c.3495G>C (p.Met1165Ile) c.516G>C (p.Met172Ile) c.615G>C (p.Met205Ile) c.7515G>C (p.Met2505Ile) c.284G>C (n.284G>C) c.7512G>C (p.Met2504Ile) c.7524G>C (p.Met2508Ile) c.7503G>C (p.Met2501Ile) c.7158G>C (p.Met2386Ile) c.3504G>C (p.Met1168Ile) c.7398G>C (p.Met2466Ile) c.7389G>C (p.Met2463Ile) c.7404G>C (p.Met2468Ile) c.1701G>C (p.Met567Ile) | |
| X | g.31773975C>T | CA412658642 | DMD | c.2373G>A (p.Met791Ile) c.147G>A (p.Met49Ile) n.1188G>A n.1110G>A n.1019G>A c.7527G>A (p.Met2509Ile) c.3495G>A (p.Met1165Ile) c.516G>A (p.Met172Ile) c.615G>A (p.Met205Ile) c.7515G>A (p.Met2505Ile) c.284G>A (n.284G>A) c.7512G>A (p.Met2504Ile) c.7524G>A (p.Met2508Ile) c.7503G>A (p.Met2501Ile) c.7158G>A (p.Met2386Ile) c.3504G>A (p.Met1168Ile) c.7398G>A (p.Met2466Ile) c.7389G>A (p.Met2463Ile) c.7404G>A (p.Met2468Ile) c.1701G>A (p.Met567Ile) | gnomAD v4 |
| X | g.31773976A= | CA2422548608 | DMD | c.2372T= (p.Met791=) c.146T= (p.Met49=) n.1187T= n.1109T= n.1018T= c.7526T= (p.Met2509=) c.3494T= (p.Met1165=) c.515T= (p.Met172=) c.614T= (p.Met205=) c.7514T= (p.Met2505=) c.283T= (n.283T=) c.7511T= (p.Met2504=) c.7523T= (p.Met2508=) c.7502T= (p.Met2501=) c.7157T= (p.Met2386=) c.3503T= (p.Met1168=) c.7397T= (p.Met2466=) c.7388T= (p.Met2463=) c.7403T= (p.Met2468=) c.1700T= (p.Met567=) | |
| X | g.31773976A>C | CA412658645 | DMD | c.2372T>G (p.Met791Arg) c.146T>G (p.Met49Arg) n.1187T>G n.1109T>G n.1018T>G c.7526T>G (p.Met2509Arg) c.3494T>G (p.Met1165Arg) c.515T>G (p.Met172Arg) c.614T>G (p.Met205Arg) c.7514T>G (p.Met2505Arg) c.283T>G (n.283T>G) c.7511T>G (p.Met2504Arg) c.7523T>G (p.Met2508Arg) c.7502T>G (p.Met2501Arg) c.7157T>G (p.Met2386Arg) c.3503T>G (p.Met1168Arg) c.7397T>G (p.Met2466Arg) c.7388T>G (p.Met2463Arg) c.7403T>G (p.Met2468Arg) c.1700T>G (p.Met567Arg) | |
| X | g.31773976A>G | CA412658646 | DMD | c.2372T>C (p.Met791Thr) c.146T>C (p.Met49Thr) n.1187T>C n.1109T>C n.1018T>C c.7526T>C (p.Met2509Thr) c.3494T>C (p.Met1165Thr) c.515T>C (p.Met172Thr) c.614T>C (p.Met205Thr) c.7514T>C (p.Met2505Thr) c.283T>C (n.283T>C) c.7511T>C (p.Met2504Thr) c.7523T>C (p.Met2508Thr) c.7502T>C (p.Met2501Thr) c.7157T>C (p.Met2386Thr) c.3503T>C (p.Met1168Thr) c.7397T>C (p.Met2466Thr) c.7388T>C (p.Met2463Thr) c.7403T>C (p.Met2468Thr) c.1700T>C (p.Met567Thr) | dbSNP gnomAD v2 |
| X | g.31773976A>T | CA412658648 | DMD | c.2372T>A (p.Met791Lys) c.146T>A (p.Met49Lys) n.1187T>A n.1109T>A n.1018T>A c.7526T>A (p.Met2509Lys) c.3494T>A (p.Met1165Lys) c.515T>A (p.Met172Lys) c.614T>A (p.Met205Lys) c.7514T>A (p.Met2505Lys) c.283T>A (n.283T>A) c.7511T>A (p.Met2504Lys) c.7523T>A (p.Met2508Lys) c.7502T>A (p.Met2501Lys) c.7157T>A (p.Met2386Lys) c.3503T>A (p.Met1168Lys) c.7397T>A (p.Met2466Lys) c.7388T>A (p.Met2463Lys) c.7403T>A (p.Met2468Lys) c.1700T>A (p.Met567Lys) | |
| X | g.31773977T>A | CA412658650 | DMD | c.2371A>T (p.Met791Leu) c.145A>T (p.Met49Leu) n.1186A>T n.1108A>T n.1017A>T c.7525A>T (p.Met2509Leu) c.3493A>T (p.Met1165Leu) c.514A>T (p.Met172Leu) c.613A>T (p.Met205Leu) c.7513A>T (p.Met2505Leu) c.282A>T (n.282A>T) c.7510A>T (p.Met2504Leu) c.7522A>T (p.Met2508Leu) c.7501A>T (p.Met2501Leu) c.7156A>T (p.Met2386Leu) c.3502A>T (p.Met1168Leu) c.7396A>T (p.Met2466Leu) c.7387A>T (p.Met2463Leu) c.7402A>T (p.Met2468Leu) c.1699A>T (p.Met567Leu) | |
| X | g.31773977T>C | CA412658653 | DMD | c.2371A>G (p.Met791Val) c.145A>G (p.Met49Val) n.1186A>G n.1108A>G n.1017A>G c.7525A>G (p.Met2509Val) c.3493A>G (p.Met1165Val) c.514A>G (p.Met172Val) c.613A>G (p.Met205Val) c.7513A>G (p.Met2505Val) c.282A>G (n.282A>G) c.7510A>G (p.Met2504Val) c.7522A>G (p.Met2508Val) c.7501A>G (p.Met2501Val) c.7156A>G (p.Met2386Val) c.3502A>G (p.Met1168Val) c.7396A>G (p.Met2466Val) c.7387A>G (p.Met2463Val) c.7402A>G (p.Met2468Val) c.1699A>G (p.Met567Val) | |
| X | g.31773977T>G | CA412658655 | DMD | c.2371A>C (p.Met791Leu) c.145A>C (p.Met49Leu) n.1186A>C n.1108A>C n.1017A>C c.7525A>C (p.Met2509Leu) c.3493A>C (p.Met1165Leu) c.514A>C (p.Met172Leu) c.613A>C (p.Met205Leu) c.7513A>C (p.Met2505Leu) c.282A>C (n.282A>C) c.7510A>C (p.Met2504Leu) c.7522A>C (p.Met2508Leu) c.7501A>C (p.Met2501Leu) c.7156A>C (p.Met2386Leu) c.3502A>C (p.Met1168Leu) c.7396A>C (p.Met2466Leu) c.7387A>C (p.Met2463Leu) c.7402A>C (p.Met2468Leu) c.1699A>C (p.Met567Leu) | |
| X | g.31773978C>A | CA412658659 | DMD | c.2370G>T (p.Glu790Asp) c.144G>T (p.Glu48Asp) n.1185G>T n.1107G>T n.1016G>T c.7524G>T (p.Glu2508Asp) c.3492G>T (p.Glu1164Asp) c.513G>T (p.Glu171Asp) c.612G>T (p.Glu204Asp) c.7512G>T (p.Glu2504Asp) c.281G>T (n.281G>T) c.7509G>T (p.Glu2503Asp) c.7521G>T (p.Glu2507Asp) c.7500G>T (p.Glu2500Asp) c.7155G>T (p.Glu2385Asp) c.3501G>T (p.Glu1167Asp) c.7395G>T (p.Glu2465Asp) c.7386G>T (p.Glu2462Asp) c.7401G>T (p.Glu2467Asp) c.1698G>T (p.Glu566Asp) | |
| X | g.31773978C= | CA2422548609 | DMD | c.2370G= (p.Glu790=) c.144G= (p.Glu48=) n.1185G= n.1107G= n.1016G= c.7524G= (p.Glu2508=) c.3492G= (p.Glu1164=) c.513G= (p.Glu171=) c.612G= (p.Glu204=) c.7512G= (p.Glu2504=) c.281G= (n.281G=) c.7509G= (p.Glu2503=) c.7521G= (p.Glu2507=) c.7500G= (p.Glu2500=) c.7155G= (p.Glu2385=) c.3501G= (p.Glu1167=) c.7395G= (p.Glu2465=) c.7386G= (p.Glu2462=) c.7401G= (p.Glu2467=) c.1698G= (p.Glu566=) | |
| X | g.31773978C>G | CA412658657 | DMD | c.2370G>C (p.Glu790Asp) c.144G>C (p.Glu48Asp) n.1185G>C n.1107G>C n.1016G>C c.7524G>C (p.Glu2508Asp) c.3492G>C (p.Glu1164Asp) c.513G>C (p.Glu171Asp) c.612G>C (p.Glu204Asp) c.7512G>C (p.Glu2504Asp) c.281G>C (n.281G>C) c.7509G>C (p.Glu2503Asp) c.7521G>C (p.Glu2507Asp) c.7500G>C (p.Glu2500Asp) c.7155G>C (p.Glu2385Asp) c.3501G>C (p.Glu1167Asp) c.7395G>C (p.Glu2465Asp) c.7386G>C (p.Glu2462Asp) c.7401G>C (p.Glu2467Asp) c.1698G>C (p.Glu566Asp) | |
| X | g.31773978C>T | CA328470486 | DMD | c.2370G>A (p.Glu790=) c.144G>A (p.Glu48=) n.1185G>A n.1107G>A n.1016G>A c.7524G>A (p.Glu2508=) c.3492G>A (p.Glu1164=) c.513G>A (p.Glu171=) c.612G>A (p.Glu204=) c.7512G>A (p.Glu2504=) c.281G>A (n.281G>A) c.7509G>A (p.Glu2503=) c.7521G>A (p.Glu2507=) c.7500G>A (p.Glu2500=) c.7155G>A (p.Glu2385=) c.3501G>A (p.Glu1167=) c.7395G>A (p.Glu2465=) c.7386G>A (p.Glu2462=) c.7401G>A (p.Glu2467=) c.1698G>A (p.Glu566=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31773979del | CA2695232435 | DMD | c.2369del (p.Glu790GlyfsTer2) c.143del (p.Glu48GlyfsTer2) n.1184del n.1106del n.1015del c.7523del (p.Glu2508GlyfsTer2) c.3491del (p.Glu1164GlyfsTer2) c.512del (p.Glu171GlyfsTer2) c.611del (p.Glu204GlyfsTer2) c.7511del (p.Glu2504GlyfsTer2) c.280del (n.280del) c.7508del (p.Glu2503GlyfsTer2) c.7520del (p.Glu2507GlyfsTer2) c.7499del (p.Glu2500GlyfsTer2) c.7154del (p.Glu2385GlyfsTer2) c.3500del (p.Glu1167GlyfsTer2) c.7394del (p.Glu2465GlyfsTer2) c.7385del (p.Glu2462GlyfsTer2) c.7400del (p.Glu2467GlyfsTer2) c.1697del (p.Glu566GlyfsTer2) | |
| X | g.31773979T>A | CA412658661 | DMD | c.2369A>T (p.Glu790Val) c.143A>T (p.Glu48Val) n.1184A>T n.1106A>T n.1015A>T c.7523A>T (p.Glu2508Val) c.3491A>T (p.Glu1164Val) c.512A>T (p.Glu171Val) c.611A>T (p.Glu204Val) c.7511A>T (p.Glu2504Val) c.280A>T (n.280A>T) c.7508A>T (p.Glu2503Val) c.7520A>T (p.Glu2507Val) c.7499A>T (p.Glu2500Val) c.7154A>T (p.Glu2385Val) c.3500A>T (p.Glu1167Val) c.7394A>T (p.Glu2465Val) c.7385A>T (p.Glu2462Val) c.7400A>T (p.Glu2467Val) c.1697A>T (p.Glu566Val) | |
| X | g.31773979T>C | CA412658663 | DMD | c.2369A>G (p.Glu790Gly) c.143A>G (p.Glu48Gly) n.1184A>G n.1106A>G n.1015A>G c.7523A>G (p.Glu2508Gly) c.3491A>G (p.Glu1164Gly) c.512A>G (p.Glu171Gly) c.611A>G (p.Glu204Gly) c.7511A>G (p.Glu2504Gly) c.280A>G (n.280A>G) c.7508A>G (p.Glu2503Gly) c.7520A>G (p.Glu2507Gly) c.7499A>G (p.Glu2500Gly) c.7154A>G (p.Glu2385Gly) c.3500A>G (p.Glu1167Gly) c.7394A>G (p.Glu2465Gly) c.7385A>G (p.Glu2462Gly) c.7400A>G (p.Glu2467Gly) c.1697A>G (p.Glu566Gly) | |
| X | g.31773979T>G | CA412658665 | DMD | c.2369A>C (p.Glu790Ala) c.143A>C (p.Glu48Ala) n.1184A>C n.1106A>C n.1015A>C c.7523A>C (p.Glu2508Ala) c.3491A>C (p.Glu1164Ala) c.512A>C (p.Glu171Ala) c.611A>C (p.Glu204Ala) c.7511A>C (p.Glu2504Ala) c.280A>C (n.280A>C) c.7508A>C (p.Glu2503Ala) c.7520A>C (p.Glu2507Ala) c.7499A>C (p.Glu2500Ala) c.7154A>C (p.Glu2385Ala) c.3500A>C (p.Glu1167Ala) c.7394A>C (p.Glu2465Ala) c.7385A>C (p.Glu2462Ala) c.7400A>C (p.Glu2467Ala) c.1697A>C (p.Glu566Ala) | |
| X | g.31773980C>A | CA412658667 | DMD | c.2368G>T (p.Glu790Ter) c.142G>T (p.Glu48Ter) n.1183G>T n.1105G>T n.1014G>T c.7522G>T (p.Glu2508Ter) c.3490G>T (p.Glu1164Ter) c.511G>T (p.Glu171Ter) c.610G>T (p.Glu204Ter) c.7510G>T (p.Glu2504Ter) c.279G>T (n.279G>T) c.7507G>T (p.Glu2503Ter) c.7519G>T (p.Glu2507Ter) c.7498G>T (p.Glu2500Ter) c.7153G>T (p.Glu2385Ter) c.3499G>T (p.Glu1167Ter) c.7393G>T (p.Glu2465Ter) c.7384G>T (p.Glu2462Ter) c.7399G>T (p.Glu2467Ter) c.1696G>T (p.Glu566Ter) | ClinVar |
| X | g.31773980C= | CA2422548610 | DMD | c.2368G= (p.Glu790=) c.142G= (p.Glu48=) n.1183G= n.1105G= n.1014G= c.7522G= (p.Glu2508=) c.3490G= (p.Glu1164=) c.511G= (p.Glu171=) c.610G= (p.Glu204=) c.7510G= (p.Glu2504=) c.279G= (n.279G=) c.7507G= (p.Glu2503=) c.7519G= (p.Glu2507=) c.7498G= (p.Glu2500=) c.7153G= (p.Glu2385=) c.3499G= (p.Glu1167=) c.7393G= (p.Glu2465=) c.7384G= (p.Glu2462=) c.7399G= (p.Glu2467=) c.1696G= (p.Glu566=) | |
| X | g.31773980C>G | CA412658668 | DMD | c.2368G>C (p.Glu790Gln) c.142G>C (p.Glu48Gln) n.1183G>C n.1105G>C n.1014G>C c.7522G>C (p.Glu2508Gln) c.3490G>C (p.Glu1164Gln) c.511G>C (p.Glu171Gln) c.610G>C (p.Glu204Gln) c.7510G>C (p.Glu2504Gln) c.279G>C (n.279G>C) c.7507G>C (p.Glu2503Gln) c.7519G>C (p.Glu2507Gln) c.7498G>C (p.Glu2500Gln) c.7153G>C (p.Glu2385Gln) c.3499G>C (p.Glu1167Gln) c.7393G>C (p.Glu2465Gln) c.7384G>C (p.Glu2462Gln) c.7399G>C (p.Glu2467Gln) c.1696G>C (p.Glu566Gln) | |
| X | g.31773980C>T | CA10378265 | DMD | c.2368G>A (p.Glu790Lys) c.142G>A (p.Glu48Lys) n.1183G>A n.1105G>A n.1014G>A c.7522G>A (p.Glu2508Lys) c.3490G>A (p.Glu1164Lys) c.511G>A (p.Glu171Lys) c.610G>A (p.Glu204Lys) c.7510G>A (p.Glu2504Lys) c.279G>A (n.279G>A) c.7507G>A (p.Glu2503Lys) c.7519G>A (p.Glu2507Lys) c.7498G>A (p.Glu2500Lys) c.7153G>A (p.Glu2385Lys) c.3499G>A (p.Glu1167Lys) c.7393G>A (p.Glu2465Lys) c.7384G>A (p.Glu2462Lys) c.7399G>A (p.Glu2467Lys) c.1696G>A (p.Glu566Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31773981G>A | CA10378266 | DMD | c.2367C>T (p.Asn789=) c.141C>T (p.Asn47=) n.1182C>T n.1104C>T n.1013C>T c.7521C>T (p.Asn2507=) c.3489C>T (p.Asn1163=) c.510C>T (p.Asn170=) c.609C>T (p.Asn203=) c.7509C>T (p.Asn2503=) c.278C>T (n.278C>T) c.7506C>T (p.Asn2502=) c.7518C>T (p.Asn2506=) c.7497C>T (p.Asn2499=) c.7152C>T (p.Asn2384=) c.3498C>T (p.Asn1166=) c.7392C>T (p.Asn2464=) c.7383C>T (p.Asn2461=) c.7398C>T (p.Asn2466=) c.1695C>T (p.Asn565=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31773981G>C | CA412658675 | DMD | c.2367C>G (p.Asn789Lys) c.141C>G (p.Asn47Lys) n.1182C>G n.1104C>G n.1013C>G c.7521C>G (p.Asn2507Lys) c.3489C>G (p.Asn1163Lys) c.510C>G (p.Asn170Lys) c.609C>G (p.Asn203Lys) c.7509C>G (p.Asn2503Lys) c.278C>G (n.278C>G) c.7506C>G (p.Asn2502Lys) c.7518C>G (p.Asn2506Lys) c.7497C>G (p.Asn2499Lys) c.7152C>G (p.Asn2384Lys) c.3498C>G (p.Asn1166Lys) c.7392C>G (p.Asn2464Lys) c.7383C>G (p.Asn2461Lys) c.7398C>G (p.Asn2466Lys) c.1695C>G (p.Asn565Lys) | ClinVar dbSNP |
| X | g.31773981G= | CA2422548611 | DMD | c.2367C= (p.Asn789=) c.141C= (p.Asn47=) n.1182C= n.1104C= n.1013C= c.7521C= (p.Asn2507=) c.3489C= (p.Asn1163=) c.510C= (p.Asn170=) c.609C= (p.Asn203=) c.7509C= (p.Asn2503=) c.278C= (n.278C=) c.7506C= (p.Asn2502=) c.7518C= (p.Asn2506=) c.7497C= (p.Asn2499=) c.7152C= (p.Asn2384=) c.3498C= (p.Asn1166=) c.7392C= (p.Asn2464=) c.7383C= (p.Asn2461=) c.7398C= (p.Asn2466=) c.1695C= (p.Asn565=) | |
| X | g.31773981G>T | CA412658673 | DMD | c.2367C>A (p.Asn789Lys) c.141C>A (p.Asn47Lys) n.1182C>A n.1104C>A n.1013C>A c.7521C>A (p.Asn2507Lys) c.3489C>A (p.Asn1163Lys) c.510C>A (p.Asn170Lys) c.609C>A (p.Asn203Lys) c.7509C>A (p.Asn2503Lys) c.278C>A (n.278C>A) c.7506C>A (p.Asn2502Lys) c.7518C>A (p.Asn2506Lys) c.7497C>A (p.Asn2499Lys) c.7152C>A (p.Asn2384Lys) c.3498C>A (p.Asn1166Lys) c.7392C>A (p.Asn2464Lys) c.7383C>A (p.Asn2461Lys) c.7398C>A (p.Asn2466Lys) c.1695C>A (p.Asn565Lys) | |
| X | g.31773982T>A | CA412658676 | DMD | c.2366A>T (p.Asn789Ile) c.140A>T (p.Asn47Ile) n.1181A>T n.1103A>T n.1012A>T c.7520A>T (p.Asn2507Ile) c.3488A>T (p.Asn1163Ile) c.509A>T (p.Asn170Ile) c.608A>T (p.Asn203Ile) c.7508A>T (p.Asn2503Ile) c.277A>T (n.277A>T) c.7505A>T (p.Asn2502Ile) c.7517A>T (p.Asn2506Ile) c.7496A>T (p.Asn2499Ile) c.7151A>T (p.Asn2384Ile) c.3497A>T (p.Asn1166Ile) c.7391A>T (p.Asn2464Ile) c.7382A>T (p.Asn2461Ile) c.7397A>T (p.Asn2466Ile) c.1694A>T (p.Asn565Ile) | |
| X | g.31773982T>C | CA10378267 | DMD | c.2366A>G (p.Asn789Ser) c.140A>G (p.Asn47Ser) n.1181A>G n.1103A>G n.1012A>G c.7520A>G (p.Asn2507Ser) c.3488A>G (p.Asn1163Ser) c.509A>G (p.Asn170Ser) c.608A>G (p.Asn203Ser) c.7508A>G (p.Asn2503Ser) c.277A>G (n.277A>G) c.7505A>G (p.Asn2502Ser) c.7517A>G (p.Asn2506Ser) c.7496A>G (p.Asn2499Ser) c.7151A>G (p.Asn2384Ser) c.3497A>G (p.Asn1166Ser) c.7391A>G (p.Asn2464Ser) c.7382A>G (p.Asn2461Ser) c.7397A>G (p.Asn2466Ser) c.1694A>G (p.Asn565Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31773982T>G | CA412658678 | DMD | c.2366A>C (p.Asn789Thr) c.140A>C (p.Asn47Thr) n.1181A>C n.1103A>C n.1012A>C c.7520A>C (p.Asn2507Thr) c.3488A>C (p.Asn1163Thr) c.509A>C (p.Asn170Thr) c.608A>C (p.Asn203Thr) c.7508A>C (p.Asn2503Thr) c.277A>C (n.277A>C) c.7505A>C (p.Asn2502Thr) c.7517A>C (p.Asn2506Thr) c.7496A>C (p.Asn2499Thr) c.7151A>C (p.Asn2384Thr) c.3497A>C (p.Asn1166Thr) c.7391A>C (p.Asn2464Thr) c.7382A>C (p.Asn2461Thr) c.7397A>C (p.Asn2466Thr) c.1694A>C (p.Asn565Thr) | |
| X | g.31773982T= | CA2422548612 | DMD | c.2366A= (p.Asn789=) c.140A= (p.Asn47=) n.1181A= n.1103A= n.1012A= c.7520A= (p.Asn2507=) c.3488A= (p.Asn1163=) c.509A= (p.Asn170=) c.608A= (p.Asn203=) c.7508A= (p.Asn2503=) c.277A= (n.277A=) c.7505A= (p.Asn2502=) c.7517A= (p.Asn2506=) c.7496A= (p.Asn2499=) c.7151A= (p.Asn2384=) c.3497A= (p.Asn1166=) c.7391A= (p.Asn2464=) c.7382A= (p.Asn2461=) c.7397A= (p.Asn2466=) c.1694A= (p.Asn565=) | |
| X | g.31773983T>A | CA412658681 | DMD | c.2365A>T (p.Asn789Tyr) c.139A>T (p.Asn47Tyr) n.1180A>T n.1102A>T n.1011A>T c.7519A>T (p.Asn2507Tyr) c.3487A>T (p.Asn1163Tyr) c.508A>T (p.Asn170Tyr) c.607A>T (p.Asn203Tyr) c.7507A>T (p.Asn2503Tyr) c.276A>T (n.276A>T) c.7504A>T (p.Asn2502Tyr) c.7516A>T (p.Asn2506Tyr) c.7495A>T (p.Asn2499Tyr) c.7150A>T (p.Asn2384Tyr) c.3496A>T (p.Asn1166Tyr) c.7390A>T (p.Asn2464Tyr) c.7381A>T (p.Asn2461Tyr) c.7396A>T (p.Asn2466Tyr) c.1693A>T (p.Asn565Tyr) | |
| X | g.31773983T>C | CA412658683 | DMD | c.2365A>G (p.Asn789Asp) c.139A>G (p.Asn47Asp) n.1180A>G n.1102A>G n.1011A>G c.7519A>G (p.Asn2507Asp) c.3487A>G (p.Asn1163Asp) c.508A>G (p.Asn170Asp) c.607A>G (p.Asn203Asp) c.7507A>G (p.Asn2503Asp) c.276A>G (n.276A>G) c.7504A>G (p.Asn2502Asp) c.7516A>G (p.Asn2506Asp) c.7495A>G (p.Asn2499Asp) c.7150A>G (p.Asn2384Asp) c.3496A>G (p.Asn1166Asp) c.7390A>G (p.Asn2464Asp) c.7381A>G (p.Asn2461Asp) c.7396A>G (p.Asn2466Asp) c.1693A>G (p.Asn565Asp) | |
| X | g.31773983T>G | CA412658684 | DMD | c.2365A>C (p.Asn789His) c.139A>C (p.Asn47His) n.1180A>C n.1102A>C n.1011A>C c.7519A>C (p.Asn2507His) c.3487A>C (p.Asn1163His) c.508A>C (p.Asn170His) c.607A>C (p.Asn203His) c.7507A>C (p.Asn2503His) c.276A>C (n.276A>C) c.7504A>C (p.Asn2502His) c.7516A>C (p.Asn2506His) c.7495A>C (p.Asn2499His) c.7150A>C (p.Asn2384His) c.3496A>C (p.Asn1166His) c.7390A>C (p.Asn2464His) c.7381A>C (p.Asn2461His) c.7396A>C (p.Asn2466His) c.1693A>C (p.Asn565His) | |
| X | g.31773984_31773986dup | CA10378268 | DMD | c.2363_2365dup (p.Ile788_Asn789insIle) c.137_139dup (p.Ile46_Asn47insIle) n.1178_1180dup n.1100_1102dup n.1009_1011dup c.7517_7519dup (p.Ile2506_Asn2507insIle) c.3485_3487dup (p.Ile1162_Asn1163insIle) c.506_508dup (p.Ile169_Asn170insIle) c.605_607dup (p.Ile202_Asn203insIle) c.7505_7507dup (p.Ile2502_Asn2503insIle) c.274_276dup (n.274_276dup) c.7502_7504dup (p.Ile2501_Asn2502insIle) c.7514_7516dup (p.Ile2505_Asn2506insIle) c.7493_7495dup (p.Ile2498_Asn2499insIle) c.7148_7150dup (p.Ile2383_Asn2384insIle) c.3494_3496dup (p.Ile1165_Asn1166insIle) c.7388_7390dup (p.Ile2463_Asn2464insIle) c.7379_7381dup (p.Ile2460_Asn2461insIle) c.7394_7396dup (p.Ile2465_Asn2466insIle) c.1691_1693dup (p.Ile564_Asn565insIle) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31773984G>A | CA515859296 | DMD | c.2364C>T (p.Ile788=) c.138C>T (p.Ile46=) n.1179C>T n.1101C>T n.1010C>T c.7518C>T (p.Ile2506=) c.3486C>T (p.Ile1162=) c.507C>T (p.Ile169=) c.606C>T (p.Ile202=) c.7506C>T (p.Ile2502=) c.275C>T (n.275C>T) c.7503C>T (p.Ile2501=) c.7515C>T (p.Ile2505=) c.7494C>T (p.Ile2498=) c.7149C>T (p.Ile2383=) c.3495C>T (p.Ile1165=) c.7389C>T (p.Ile2463=) c.7380C>T (p.Ile2460=) c.7395C>T (p.Ile2465=) c.1692C>T (p.Ile564=) | ClinVar |
| X | g.31773984G>C | CA412658686 | DMD | c.2364C>G (p.Ile788Met) c.138C>G (p.Ile46Met) n.1179C>G n.1101C>G n.1010C>G c.7518C>G (p.Ile2506Met) c.3486C>G (p.Ile1162Met) c.507C>G (p.Ile169Met) c.606C>G (p.Ile202Met) c.7506C>G (p.Ile2502Met) c.275C>G (n.275C>G) c.7503C>G (p.Ile2501Met) c.7515C>G (p.Ile2505Met) c.7494C>G (p.Ile2498Met) c.7149C>G (p.Ile2383Met) c.3495C>G (p.Ile1165Met) c.7389C>G (p.Ile2463Met) c.7380C>G (p.Ile2460Met) c.7395C>G (p.Ile2465Met) c.1692C>G (p.Ile564Met) | |
| X | g.31773984G>T | CA515859297 | DMD | c.2364C>A (p.Ile788=) c.138C>A (p.Ile46=) n.1179C>A n.1101C>A n.1010C>A c.7518C>A (p.Ile2506=) c.3486C>A (p.Ile1162=) c.507C>A (p.Ile169=) c.606C>A (p.Ile202=) c.7506C>A (p.Ile2502=) c.275C>A (n.275C>A) c.7503C>A (p.Ile2501=) c.7515C>A (p.Ile2505=) c.7494C>A (p.Ile2498=) c.7149C>A (p.Ile2383=) c.3495C>A (p.Ile1165=) c.7389C>A (p.Ile2463=) c.7380C>A (p.Ile2460=) c.7395C>A (p.Ile2465=) c.1692C>A (p.Ile564=) | |
| X | g.31773985A>C | CA412658689 | DMD | c.2363T>G (p.Ile788Ser) c.137T>G (p.Ile46Ser) n.1178T>G n.1100T>G n.1009T>G c.7517T>G (p.Ile2506Ser) c.3485T>G (p.Ile1162Ser) c.506T>G (p.Ile169Ser) c.605T>G (p.Ile202Ser) c.7505T>G (p.Ile2502Ser) c.274T>G (n.274T>G) c.7502T>G (p.Ile2501Ser) c.7514T>G (p.Ile2505Ser) c.7493T>G (p.Ile2498Ser) c.7148T>G (p.Ile2383Ser) c.3494T>G (p.Ile1165Ser) c.7388T>G (p.Ile2463Ser) c.7379T>G (p.Ile2460Ser) c.7394T>G (p.Ile2465Ser) c.1691T>G (p.Ile564Ser) | |
| X | g.31773985A>G | CA412658690 | DMD | c.2363T>C (p.Ile788Thr) c.137T>C (p.Ile46Thr) n.1178T>C n.1100T>C n.1009T>C c.7517T>C (p.Ile2506Thr) c.3485T>C (p.Ile1162Thr) c.506T>C (p.Ile169Thr) c.605T>C (p.Ile202Thr) c.7505T>C (p.Ile2502Thr) c.274T>C (n.274T>C) c.7502T>C (p.Ile2501Thr) c.7514T>C (p.Ile2505Thr) c.7493T>C (p.Ile2498Thr) c.7148T>C (p.Ile2383Thr) c.3494T>C (p.Ile1165Thr) c.7388T>C (p.Ile2463Thr) c.7379T>C (p.Ile2460Thr) c.7394T>C (p.Ile2465Thr) c.1691T>C (p.Ile564Thr) | gnomAD v4 |
| X | g.31773985A>T | CA412658691 | DMD | c.2363T>A (p.Ile788Asn) c.137T>A (p.Ile46Asn) n.1178T>A n.1100T>A n.1009T>A c.7517T>A (p.Ile2506Asn) c.3485T>A (p.Ile1162Asn) c.506T>A (p.Ile169Asn) c.605T>A (p.Ile202Asn) c.7505T>A (p.Ile2502Asn) c.274T>A (n.274T>A) c.7502T>A (p.Ile2501Asn) c.7514T>A (p.Ile2505Asn) c.7493T>A (p.Ile2498Asn) c.7148T>A (p.Ile2383Asn) c.3494T>A (p.Ile1165Asn) c.7388T>A (p.Ile2463Asn) c.7379T>A (p.Ile2460Asn) c.7394T>A (p.Ile2465Asn) c.1691T>A (p.Ile564Asn) | ClinVar dbSNP |
| X | g.31773986T>A | CA412658695 | DMD | c.2362A>T (p.Ile788Phe) c.136A>T (p.Ile46Phe) n.1177A>T n.1099A>T n.1008A>T c.7516A>T (p.Ile2506Phe) c.3484A>T (p.Ile1162Phe) c.505A>T (p.Ile169Phe) c.604A>T (p.Ile202Phe) c.7504A>T (p.Ile2502Phe) c.273A>T (n.273A>T) c.7501A>T (p.Ile2501Phe) c.7513A>T (p.Ile2505Phe) c.7492A>T (p.Ile2498Phe) c.7147A>T (p.Ile2383Phe) c.3493A>T (p.Ile1165Phe) c.7387A>T (p.Ile2463Phe) c.7378A>T (p.Ile2460Phe) c.7393A>T (p.Ile2465Phe) c.1690A>T (p.Ile564Phe) | |
| X | g.31773986T>C | CA328470487 | DMD | c.2362A>G (p.Ile788Val) c.136A>G (p.Ile46Val) n.1177A>G n.1099A>G n.1008A>G c.7516A>G (p.Ile2506Val) c.3484A>G (p.Ile1162Val) c.505A>G (p.Ile169Val) c.604A>G (p.Ile202Val) c.7504A>G (p.Ile2502Val) c.273A>G (n.273A>G) c.7501A>G (p.Ile2501Val) c.7513A>G (p.Ile2505Val) c.7492A>G (p.Ile2498Val) c.7147A>G (p.Ile2383Val) c.3493A>G (p.Ile1165Val) c.7387A>G (p.Ile2463Val) c.7378A>G (p.Ile2460Val) c.7393A>G (p.Ile2465Val) c.1690A>G (p.Ile564Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.31773986T>G | CA412658693 | DMD | c.2362A>C (p.Ile788Leu) c.136A>C (p.Ile46Leu) n.1177A>C n.1099A>C n.1008A>C c.7516A>C (p.Ile2506Leu) c.3484A>C (p.Ile1162Leu) c.505A>C (p.Ile169Leu) c.604A>C (p.Ile202Leu) c.7504A>C (p.Ile2502Leu) c.273A>C (n.273A>C) c.7501A>C (p.Ile2501Leu) c.7513A>C (p.Ile2505Leu) c.7492A>C (p.Ile2498Leu) c.7147A>C (p.Ile2383Leu) c.3493A>C (p.Ile1165Leu) c.7387A>C (p.Ile2463Leu) c.7378A>C (p.Ile2460Leu) c.7393A>C (p.Ile2465Leu) c.1690A>C (p.Ile564Leu) | |
| X | g.31773986T= | CA2422548613 | DMD | c.2362A= (p.Ile788=) c.136A= (p.Ile46=) n.1177A= n.1099A= n.1008A= c.7516A= (p.Ile2506=) c.3484A= (p.Ile1162=) c.505A= (p.Ile169=) c.604A= (p.Ile202=) c.7504A= (p.Ile2502=) c.273A= (n.273A=) c.7501A= (p.Ile2501=) c.7513A= (p.Ile2505=) c.7492A= (p.Ile2498=) c.7147A= (p.Ile2383=) c.3493A= (p.Ile1165=) c.7387A= (p.Ile2463=) c.7378A= (p.Ile2460=) c.7393A= (p.Ile2465=) c.1690A= (p.Ile564=) | |
| X | g.31773987A>C | CA412658700 | DMD | c.2361T>G (p.Asp787Glu) c.135T>G (p.Asp45Glu) n.1176T>G n.1098T>G n.1007T>G c.7515T>G (p.Asp2505Glu) c.3483T>G (p.Asp1161Glu) c.504T>G (p.Asp168Glu) c.603T>G (p.Asp201Glu) c.7503T>G (p.Asp2501Glu) c.272T>G (n.272T>G) c.7500T>G (p.Asp2500Glu) c.7512T>G (p.Asp2504Glu) c.7491T>G (p.Asp2497Glu) c.7146T>G (p.Asp2382Glu) c.3492T>G (p.Asp1164Glu) c.7386T>G (p.Asp2462Glu) c.7377T>G (p.Asp2459Glu) c.7392T>G (p.Asp2464Glu) c.1689T>G (p.Asp563Glu) | |
| X | g.31773987A>G | CA515859298 | DMD | c.2361T>C (p.Asp787=) c.135T>C (p.Asp45=) n.1176T>C n.1098T>C n.1007T>C c.7515T>C (p.Asp2505=) c.3483T>C (p.Asp1161=) c.504T>C (p.Asp168=) c.603T>C (p.Asp201=) c.7503T>C (p.Asp2501=) c.272T>C (n.272T>C) c.7500T>C (p.Asp2500=) c.7512T>C (p.Asp2504=) c.7491T>C (p.Asp2497=) c.7146T>C (p.Asp2382=) c.3492T>C (p.Asp1164=) c.7386T>C (p.Asp2462=) c.7377T>C (p.Asp2459=) c.7392T>C (p.Asp2464=) c.1689T>C (p.Asp563=) | ClinVar dbSNP |
| X | g.31773987A>T | CA412658699 | DMD | c.2361T>A (p.Asp787Glu) c.135T>A (p.Asp45Glu) n.1176T>A n.1098T>A n.1007T>A c.7515T>A (p.Asp2505Glu) c.3483T>A (p.Asp1161Glu) c.504T>A (p.Asp168Glu) c.603T>A (p.Asp201Glu) c.7503T>A (p.Asp2501Glu) c.272T>A (n.272T>A) c.7500T>A (p.Asp2500Glu) c.7512T>A (p.Asp2504Glu) c.7491T>A (p.Asp2497Glu) c.7146T>A (p.Asp2382Glu) c.3492T>A (p.Asp1164Glu) c.7386T>A (p.Asp2462Glu) c.7377T>A (p.Asp2459Glu) c.7392T>A (p.Asp2464Glu) c.1689T>A (p.Asp563Glu) | |
| X | g.31773988T>A | CA412658705 | DMD | c.2360A>T (p.Asp787Val) c.134A>T (p.Asp45Val) n.1175A>T n.1097A>T n.1006A>T c.7514A>T (p.Asp2505Val) c.3482A>T (p.Asp1161Val) c.503A>T (p.Asp168Val) c.602A>T (p.Asp201Val) c.7502A>T (p.Asp2501Val) c.271A>T (n.271A>T) c.7499A>T (p.Asp2500Val) c.7511A>T (p.Asp2504Val) c.7490A>T (p.Asp2497Val) c.7145A>T (p.Asp2382Val) c.3491A>T (p.Asp1164Val) c.7385A>T (p.Asp2462Val) c.7376A>T (p.Asp2459Val) c.7391A>T (p.Asp2464Val) c.1688A>T (p.Asp563Val) | ClinVar dbSNP |
| X | g.31773988T>C | CA412658702 | DMD | c.2360A>G (p.Asp787Gly) c.134A>G (p.Asp45Gly) n.1175A>G n.1097A>G n.1006A>G c.7514A>G (p.Asp2505Gly) c.3482A>G (p.Asp1161Gly) c.503A>G (p.Asp168Gly) c.602A>G (p.Asp201Gly) c.7502A>G (p.Asp2501Gly) c.271A>G (n.271A>G) c.7499A>G (p.Asp2500Gly) c.7511A>G (p.Asp2504Gly) c.7490A>G (p.Asp2497Gly) c.7145A>G (p.Asp2382Gly) c.3491A>G (p.Asp1164Gly) c.7385A>G (p.Asp2462Gly) c.7376A>G (p.Asp2459Gly) c.7391A>G (p.Asp2464Gly) c.1688A>G (p.Asp563Gly) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31773988T>G | CA412658703 | DMD | c.2360A>C (p.Asp787Ala) c.134A>C (p.Asp45Ala) n.1175A>C n.1097A>C n.1006A>C c.7514A>C (p.Asp2505Ala) c.3482A>C (p.Asp1161Ala) c.503A>C (p.Asp168Ala) c.602A>C (p.Asp201Ala) c.7502A>C (p.Asp2501Ala) c.271A>C (n.271A>C) c.7499A>C (p.Asp2500Ala) c.7511A>C (p.Asp2504Ala) c.7490A>C (p.Asp2497Ala) c.7145A>C (p.Asp2382Ala) c.3491A>C (p.Asp1164Ala) c.7385A>C (p.Asp2462Ala) c.7376A>C (p.Asp2459Ala) c.7391A>C (p.Asp2464Ala) c.1688A>C (p.Asp563Ala) | |
| X | g.31773988T= | CA2422548614 | DMD | c.2360A= (p.Asp787=) c.134A= (p.Asp45=) n.1175A= n.1097A= n.1006A= c.7514A= (p.Asp2505=) c.3482A= (p.Asp1161=) c.503A= (p.Asp168=) c.602A= (p.Asp201=) c.7502A= (p.Asp2501=) c.271A= (n.271A=) c.7499A= (p.Asp2500=) c.7511A= (p.Asp2504=) c.7490A= (p.Asp2497=) c.7145A= (p.Asp2382=) c.3491A= (p.Asp1164=) c.7385A= (p.Asp2462=) c.7376A= (p.Asp2459=) c.7391A= (p.Asp2464=) c.1688A= (p.Asp563=) | |
| X | g.31773989C>A | CA412658708 | DMD | c.2359G>T (p.Asp787Tyr) c.133G>T (p.Asp45Tyr) n.1174G>T n.1096G>T n.1005G>T c.7513G>T (p.Asp2505Tyr) c.3481G>T (p.Asp1161Tyr) c.502G>T (p.Asp168Tyr) c.601G>T (p.Asp201Tyr) c.7501G>T (p.Asp2501Tyr) c.270G>T (n.270G>T) c.7498G>T (p.Asp2500Tyr) c.7510G>T (p.Asp2504Tyr) c.7489G>T (p.Asp2497Tyr) c.7144G>T (p.Asp2382Tyr) c.3490G>T (p.Asp1164Tyr) c.7384G>T (p.Asp2462Tyr) c.7375G>T (p.Asp2459Tyr) c.7390G>T (p.Asp2464Tyr) c.1687G>T (p.Asp563Tyr) | |
| X | g.31773989C>G | CA412658712 | DMD | c.2359G>C (p.Asp787His) c.133G>C (p.Asp45His) n.1174G>C n.1096G>C n.1005G>C c.7513G>C (p.Asp2505His) c.3481G>C (p.Asp1161His) c.502G>C (p.Asp168His) c.601G>C (p.Asp201His) c.7501G>C (p.Asp2501His) c.270G>C (n.270G>C) c.7498G>C (p.Asp2500His) c.7510G>C (p.Asp2504His) c.7489G>C (p.Asp2497His) c.7144G>C (p.Asp2382His) c.3490G>C (p.Asp1164His) c.7384G>C (p.Asp2462His) c.7375G>C (p.Asp2459His) c.7390G>C (p.Asp2464His) c.1687G>C (p.Asp563His) | |
| X | g.31773989C>T | CA412658714 | DMD | c.2359G>A (p.Asp787Asn) c.133G>A (p.Asp45Asn) n.1174G>A n.1096G>A n.1005G>A c.7513G>A (p.Asp2505Asn) c.3481G>A (p.Asp1161Asn) c.502G>A (p.Asp168Asn) c.601G>A (p.Asp201Asn) c.7501G>A (p.Asp2501Asn) c.270G>A (n.270G>A) c.7498G>A (p.Asp2500Asn) c.7510G>A (p.Asp2504Asn) c.7489G>A (p.Asp2497Asn) c.7144G>A (p.Asp2382Asn) c.3490G>A (p.Asp1164Asn) c.7384G>A (p.Asp2462Asn) c.7375G>A (p.Asp2459Asn) c.7390G>A (p.Asp2464Asn) c.1687G>A (p.Asp563Asn) | |
| X | g.31773990C>A | CA412658716 | DMD | c.2358G>T (p.Glu786Asp) c.132G>T (p.Glu44Asp) n.1173G>T n.1095G>T n.1004G>T c.7512G>T (p.Glu2504Asp) c.3480G>T (p.Glu1160Asp) c.501G>T (p.Glu167Asp) c.600G>T (p.Glu200Asp) c.7500G>T (p.Glu2500Asp) c.269G>T (n.269G>T) c.7497G>T (p.Glu2499Asp) c.7509G>T (p.Glu2503Asp) c.7488G>T (p.Glu2496Asp) c.7143G>T (p.Glu2381Asp) c.3489G>T (p.Glu1163Asp) c.7383G>T (p.Glu2461Asp) c.7374G>T (p.Glu2458Asp) c.7389G>T (p.Glu2463Asp) c.1686G>T (p.Glu562Asp) | |
| X | g.31773990C>G | CA412658718 | DMD | c.2358G>C (p.Glu786Asp) c.132G>C (p.Glu44Asp) n.1173G>C n.1095G>C n.1004G>C c.7512G>C (p.Glu2504Asp) c.3480G>C (p.Glu1160Asp) c.501G>C (p.Glu167Asp) c.600G>C (p.Glu200Asp) c.7500G>C (p.Glu2500Asp) c.269G>C (n.269G>C) c.7497G>C (p.Glu2499Asp) c.7509G>C (p.Glu2503Asp) c.7488G>C (p.Glu2496Asp) c.7143G>C (p.Glu2381Asp) c.3489G>C (p.Glu1163Asp) c.7383G>C (p.Glu2461Asp) c.7374G>C (p.Glu2458Asp) c.7389G>C (p.Glu2463Asp) c.1686G>C (p.Glu562Asp) | |
| X | g.31773990C>T | CA515859299 | DMD | c.2358G>A (p.Glu786=) c.132G>A (p.Glu44=) n.1173G>A n.1095G>A n.1004G>A c.7512G>A (p.Glu2504=) c.3480G>A (p.Glu1160=) c.501G>A (p.Glu167=) c.600G>A (p.Glu200=) c.7500G>A (p.Glu2500=) c.269G>A (n.269G>A) c.7497G>A (p.Glu2499=) c.7509G>A (p.Glu2503=) c.7488G>A (p.Glu2496=) c.7143G>A (p.Glu2381=) c.3489G>A (p.Glu1163=) c.7383G>A (p.Glu2461=) c.7374G>A (p.Glu2458=) c.7389G>A (p.Glu2463=) c.1686G>A (p.Glu562=) | |
| X | g.31773991T>A | CA412658720 | DMD | c.2357A>T (p.Glu786Val) c.131A>T (p.Glu44Val) n.1172A>T n.1094A>T n.1003A>T c.7511A>T (p.Glu2504Val) c.3479A>T (p.Glu1160Val) c.500A>T (p.Glu167Val) c.599A>T (p.Glu200Val) c.7499A>T (p.Glu2500Val) c.268A>T (n.268A>T) c.7496A>T (p.Glu2499Val) c.7508A>T (p.Glu2503Val) c.7487A>T (p.Glu2496Val) c.7142A>T (p.Glu2381Val) c.3488A>T (p.Glu1163Val) c.7382A>T (p.Glu2461Val) c.7373A>T (p.Glu2458Val) c.7388A>T (p.Glu2463Val) c.1685A>T (p.Glu562Val) | |
| X | g.31773991T>C | CA412658722 | DMD | c.2357A>G (p.Glu786Gly) c.131A>G (p.Glu44Gly) n.1172A>G n.1094A>G n.1003A>G c.7511A>G (p.Glu2504Gly) c.3479A>G (p.Glu1160Gly) c.500A>G (p.Glu167Gly) c.599A>G (p.Glu200Gly) c.7499A>G (p.Glu2500Gly) c.268A>G (n.268A>G) c.7496A>G (p.Glu2499Gly) c.7508A>G (p.Glu2503Gly) c.7487A>G (p.Glu2496Gly) c.7142A>G (p.Glu2381Gly) c.3488A>G (p.Glu1163Gly) c.7382A>G (p.Glu2461Gly) c.7373A>G (p.Glu2458Gly) c.7388A>G (p.Glu2463Gly) c.1685A>G (p.Glu562Gly) | gnomAD v4 |
| X | g.31773991T>G | CA412658724 | DMD | c.2357A>C (p.Glu786Ala) c.131A>C (p.Glu44Ala) n.1172A>C n.1094A>C n.1003A>C c.7511A>C (p.Glu2504Ala) c.3479A>C (p.Glu1160Ala) c.500A>C (p.Glu167Ala) c.599A>C (p.Glu200Ala) c.7499A>C (p.Glu2500Ala) c.268A>C (n.268A>C) c.7496A>C (p.Glu2499Ala) c.7508A>C (p.Glu2503Ala) c.7487A>C (p.Glu2496Ala) c.7142A>C (p.Glu2381Ala) c.3488A>C (p.Glu1163Ala) c.7382A>C (p.Glu2461Ala) c.7373A>C (p.Glu2458Ala) c.7388A>C (p.Glu2463Ala) c.1685A>C (p.Glu562Ala) | |
| X | g.31773992C>A | CA412658727 | DMD | c.2356G>T (p.Glu786Ter) c.130G>T (p.Glu44Ter) n.1171G>T n.1093G>T n.1002G>T c.7510G>T (p.Glu2504Ter) c.3478G>T (p.Glu1160Ter) c.499G>T (p.Glu167Ter) c.598G>T (p.Glu200Ter) c.7498G>T (p.Glu2500Ter) c.267G>T (n.267G>T) c.7495G>T (p.Glu2499Ter) c.7507G>T (p.Glu2503Ter) c.7486G>T (p.Glu2496Ter) c.7141G>T (p.Glu2381Ter) c.3487G>T (p.Glu1163Ter) c.7381G>T (p.Glu2461Ter) c.7372G>T (p.Glu2458Ter) c.7387G>T (p.Glu2463Ter) c.1684G>T (p.Glu562Ter) | ClinVar dbSNP |
| X | g.31773992C>G | CA412658728 | DMD | c.2356G>C (p.Glu786Gln) c.130G>C (p.Glu44Gln) n.1171G>C n.1093G>C n.1002G>C c.7510G>C (p.Glu2504Gln) c.3478G>C (p.Glu1160Gln) c.499G>C (p.Glu167Gln) c.598G>C (p.Glu200Gln) c.7498G>C (p.Glu2500Gln) c.267G>C (n.267G>C) c.7495G>C (p.Glu2499Gln) c.7507G>C (p.Glu2503Gln) c.7486G>C (p.Glu2496Gln) c.7141G>C (p.Glu2381Gln) c.3487G>C (p.Glu1163Gln) c.7381G>C (p.Glu2461Gln) c.7372G>C (p.Glu2458Gln) c.7387G>C (p.Glu2463Gln) c.1684G>C (p.Glu562Gln) | ClinVar gnomAD v4 |
| X | g.31773992C>T | CA412658730 | DMD | c.2356G>A (p.Glu786Lys) c.130G>A (p.Glu44Lys) n.1171G>A n.1093G>A n.1002G>A c.7510G>A (p.Glu2504Lys) c.3478G>A (p.Glu1160Lys) c.499G>A (p.Glu167Lys) c.598G>A (p.Glu200Lys) c.7498G>A (p.Glu2500Lys) c.267G>A (n.267G>A) c.7495G>A (p.Glu2499Lys) c.7507G>A (p.Glu2503Lys) c.7486G>A (p.Glu2496Lys) c.7141G>A (p.Glu2381Lys) c.3487G>A (p.Glu1163Lys) c.7381G>A (p.Glu2461Lys) c.7372G>A (p.Glu2458Lys) c.7387G>A (p.Glu2463Lys) c.1684G>A (p.Glu562Lys) | |
| X | g.31773993A>C | CA515859300 | DMD | c.2355T>G (p.Leu785=) c.129T>G (p.Leu43=) n.1170T>G n.1092T>G n.1001T>G c.7509T>G (p.Leu2503=) c.3477T>G (p.Leu1159=) c.498T>G (p.Leu166=) c.597T>G (p.Leu199=) c.7497T>G (p.Leu2499=) c.266T>G (n.266T>G) c.7494T>G (p.Leu2498=) c.7506T>G (p.Leu2502=) c.7485T>G (p.Leu2495=) c.7140T>G (p.Leu2380=) c.3486T>G (p.Leu1162=) c.7380T>G (p.Leu2460=) c.7371T>G (p.Leu2457=) c.7386T>G (p.Leu2462=) c.1683T>G (p.Leu561=) | |
| X | g.31773993A>G | CA515859301 | DMD | c.2355T>C (p.Leu785=) c.129T>C (p.Leu43=) n.1170T>C n.1092T>C n.1001T>C c.7509T>C (p.Leu2503=) c.3477T>C (p.Leu1159=) c.498T>C (p.Leu166=) c.597T>C (p.Leu199=) c.7497T>C (p.Leu2499=) c.266T>C (n.266T>C) c.7494T>C (p.Leu2498=) c.7506T>C (p.Leu2502=) c.7485T>C (p.Leu2495=) c.7140T>C (p.Leu2380=) c.3486T>C (p.Leu1162=) c.7380T>C (p.Leu2460=) c.7371T>C (p.Leu2457=) c.7386T>C (p.Leu2462=) c.1683T>C (p.Leu561=) | ClinVar |
| X | g.31773993A>T | CA515859302 | DMD | c.2355T>A (p.Leu785=) c.129T>A (p.Leu43=) n.1170T>A n.1092T>A n.1001T>A c.7509T>A (p.Leu2503=) c.3477T>A (p.Leu1159=) c.498T>A (p.Leu166=) c.597T>A (p.Leu199=) c.7497T>A (p.Leu2499=) c.266T>A (n.266T>A) c.7494T>A (p.Leu2498=) c.7506T>A (p.Leu2502=) c.7485T>A (p.Leu2495=) c.7140T>A (p.Leu2380=) c.3486T>A (p.Leu1162=) c.7380T>A (p.Leu2460=) c.7371T>A (p.Leu2457=) c.7386T>A (p.Leu2462=) c.1683T>A (p.Leu561=) | |
| X | g.31773994A>C | CA412658736 | DMD | c.2354T>G (p.Leu785Arg) c.128T>G (p.Leu43Arg) n.1169T>G n.1091T>G n.1000T>G c.7508T>G (p.Leu2503Arg) c.3476T>G (p.Leu1159Arg) c.497T>G (p.Leu166Arg) c.596T>G (p.Leu199Arg) c.7496T>G (p.Leu2499Arg) c.265T>G (n.265T>G) c.7493T>G (p.Leu2498Arg) c.7505T>G (p.Leu2502Arg) c.7484T>G (p.Leu2495Arg) c.7139T>G (p.Leu2380Arg) c.3485T>G (p.Leu1162Arg) c.7379T>G (p.Leu2460Arg) c.7370T>G (p.Leu2457Arg) c.7385T>G (p.Leu2462Arg) c.1682T>G (p.Leu561Arg) | |
| X | g.31773994A>G | CA412658733 | DMD | c.2354T>C (p.Leu785Pro) c.128T>C (p.Leu43Pro) n.1169T>C n.1091T>C n.1000T>C c.7508T>C (p.Leu2503Pro) c.3476T>C (p.Leu1159Pro) c.497T>C (p.Leu166Pro) c.596T>C (p.Leu199Pro) c.7496T>C (p.Leu2499Pro) c.265T>C (n.265T>C) c.7493T>C (p.Leu2498Pro) c.7505T>C (p.Leu2502Pro) c.7484T>C (p.Leu2495Pro) c.7139T>C (p.Leu2380Pro) c.3485T>C (p.Leu1162Pro) c.7379T>C (p.Leu2460Pro) c.7370T>C (p.Leu2457Pro) c.7385T>C (p.Leu2462Pro) c.1682T>C (p.Leu561Pro) | |
| X | g.31773994A>T | CA412658734 | DMD | c.2354T>A (p.Leu785His) c.128T>A (p.Leu43His) n.1169T>A n.1091T>A n.1000T>A c.7508T>A (p.Leu2503His) c.3476T>A (p.Leu1159His) c.497T>A (p.Leu166His) c.596T>A (p.Leu199His) c.7496T>A (p.Leu2499His) c.265T>A (n.265T>A) c.7493T>A (p.Leu2498His) c.7505T>A (p.Leu2502His) c.7484T>A (p.Leu2495His) c.7139T>A (p.Leu2380His) c.3485T>A (p.Leu1162His) c.7379T>A (p.Leu2460His) c.7370T>A (p.Leu2457His) c.7385T>A (p.Leu2462His) c.1682T>A (p.Leu561His) | |
| X | g.31773995G>A | CA412658738 | DMD | c.2353C>T (p.Leu785Phe) c.127C>T (p.Leu43Phe) n.1168C>T n.1090C>T n.999C>T c.7507C>T (p.Leu2503Phe) c.3475C>T (p.Leu1159Phe) c.496C>T (p.Leu166Phe) c.595C>T (p.Leu199Phe) c.7495C>T (p.Leu2499Phe) c.264C>T (n.264C>T) c.7492C>T (p.Leu2498Phe) c.7504C>T (p.Leu2502Phe) c.7483C>T (p.Leu2495Phe) c.7138C>T (p.Leu2380Phe) c.3484C>T (p.Leu1162Phe) c.7378C>T (p.Leu2460Phe) c.7369C>T (p.Leu2457Phe) c.7384C>T (p.Leu2462Phe) c.1681C>T (p.Leu561Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31773995G>C | CA412658740 | DMD | c.2353C>G (p.Leu785Val) c.127C>G (p.Leu43Val) n.1168C>G n.1090C>G n.999C>G c.7507C>G (p.Leu2503Val) c.3475C>G (p.Leu1159Val) c.496C>G (p.Leu166Val) c.595C>G (p.Leu199Val) c.7495C>G (p.Leu2499Val) c.264C>G (n.264C>G) c.7492C>G (p.Leu2498Val) c.7504C>G (p.Leu2502Val) c.7483C>G (p.Leu2495Val) c.7138C>G (p.Leu2380Val) c.3484C>G (p.Leu1162Val) c.7378C>G (p.Leu2460Val) c.7369C>G (p.Leu2457Val) c.7384C>G (p.Leu2462Val) c.1681C>G (p.Leu561Val) | |
| X | g.31773995G= | CA2422548615 | DMD | c.2353C= (p.Leu785=) c.127C= (p.Leu43=) n.1168C= n.1090C= n.999C= c.7507C= (p.Leu2503=) c.3475C= (p.Leu1159=) c.496C= (p.Leu166=) c.595C= (p.Leu199=) c.7495C= (p.Leu2499=) c.264C= (n.264C=) c.7492C= (p.Leu2498=) c.7504C= (p.Leu2502=) c.7483C= (p.Leu2495=) c.7138C= (p.Leu2380=) c.3484C= (p.Leu1162=) c.7378C= (p.Leu2460=) c.7369C= (p.Leu2457=) c.7384C= (p.Leu2462=) c.1681C= (p.Leu561=) | |
| X | g.31773995G>T | CA412658742 | DMD | c.2353C>A (p.Leu785Ile) c.127C>A (p.Leu43Ile) n.1168C>A n.1090C>A n.999C>A c.7507C>A (p.Leu2503Ile) c.3475C>A (p.Leu1159Ile) c.496C>A (p.Leu166Ile) c.595C>A (p.Leu199Ile) c.7495C>A (p.Leu2499Ile) c.264C>A (n.264C>A) c.7492C>A (p.Leu2498Ile) c.7504C>A (p.Leu2502Ile) c.7483C>A (p.Leu2495Ile) c.7138C>A (p.Leu2380Ile) c.3484C>A (p.Leu1162Ile) c.7378C>A (p.Leu2460Ile) c.7369C>A (p.Leu2457Ile) c.7384C>A (p.Leu2462Ile) c.1681C>A (p.Leu561Ile) | |
| X | g.31773996G>A | CA515859303 | DMD | c.2352C>T (p.Asp784=) c.126C>T (p.Asp42=) n.1167C>T n.1089C>T n.998C>T c.7506C>T (p.Asp2502=) c.3474C>T (p.Asp1158=) c.495C>T (p.Asp165=) c.594C>T (p.Asp198=) c.7494C>T (p.Asp2498=) c.263C>T (n.263C>T) c.7491C>T (p.Asp2497=) c.7503C>T (p.Asp2501=) c.7482C>T (p.Asp2494=) c.7137C>T (p.Asp2379=) c.3483C>T (p.Asp1161=) c.7377C>T (p.Asp2459=) c.7368C>T (p.Asp2456=) c.7383C>T (p.Asp2461=) c.1680C>T (p.Asp560=) | ClinVar dbSNP |
| X | g.31773996G>C | CA412658744 | DMD | c.2352C>G (p.Asp784Glu) c.126C>G (p.Asp42Glu) n.1167C>G n.1089C>G n.998C>G c.7506C>G (p.Asp2502Glu) c.3474C>G (p.Asp1158Glu) c.495C>G (p.Asp165Glu) c.594C>G (p.Asp198Glu) c.7494C>G (p.Asp2498Glu) c.263C>G (n.263C>G) c.7491C>G (p.Asp2497Glu) c.7503C>G (p.Asp2501Glu) c.7482C>G (p.Asp2494Glu) c.7137C>G (p.Asp2379Glu) c.3483C>G (p.Asp1161Glu) c.7377C>G (p.Asp2459Glu) c.7368C>G (p.Asp2456Glu) c.7383C>G (p.Asp2461Glu) c.1680C>G (p.Asp560Glu) | |
| X | g.31773996G>T | CA412658745 | DMD | c.2352C>A (p.Asp784Glu) c.126C>A (p.Asp42Glu) n.1167C>A n.1089C>A n.998C>A c.7506C>A (p.Asp2502Glu) c.3474C>A (p.Asp1158Glu) c.495C>A (p.Asp165Glu) c.594C>A (p.Asp198Glu) c.7494C>A (p.Asp2498Glu) c.263C>A (n.263C>A) c.7491C>A (p.Asp2497Glu) c.7503C>A (p.Asp2501Glu) c.7482C>A (p.Asp2494Glu) c.7137C>A (p.Asp2379Glu) c.3483C>A (p.Asp1161Glu) c.7377C>A (p.Asp2459Glu) c.7368C>A (p.Asp2456Glu) c.7383C>A (p.Asp2461Glu) c.1680C>A (p.Asp560Glu) | |
| X | g.31773996_31774005del | CA2695232436 | DMD | c.2343_2352del (p.Met781IlefsTer8) c.117_126del (p.Met39IlefsTer8) n.1158_1167del n.1080_1089del n.989_998del c.7497_7506del (p.Met2499IlefsTer8) c.3465_3474del (p.Met1155IlefsTer8) c.486_495del (p.Met162IlefsTer8) c.585_594del (p.Met195IlefsTer8) c.7485_7494del (p.Met2495IlefsTer8) c.254_263del (n.254_263del) c.7482_7491del (p.Met2494IlefsTer8) c.7494_7503del (p.Met2498IlefsTer8) c.7473_7482del (p.Met2491IlefsTer8) c.7128_7137del (p.Met2376IlefsTer8) c.3474_3483del (p.Met1158IlefsTer8) c.7368_7377del (p.Met2456IlefsTer8) c.7359_7368del (p.Met2453IlefsTer8) c.7374_7383del (p.Met2458IlefsTer8) c.1671_1680del (p.Met557IlefsTer8) | |
| X | g.31773997T>A | CA412658746 | DMD | c.2351A>T (p.Asp784Val) c.125A>T (p.Asp42Val) n.1166A>T n.1088A>T n.997A>T c.7505A>T (p.Asp2502Val) c.3473A>T (p.Asp1158Val) c.494A>T (p.Asp165Val) c.593A>T (p.Asp198Val) c.7493A>T (p.Asp2498Val) c.262A>T (n.262A>T) c.7490A>T (p.Asp2497Val) c.7502A>T (p.Asp2501Val) c.7481A>T (p.Asp2494Val) c.7136A>T (p.Asp2379Val) c.3482A>T (p.Asp1161Val) c.7376A>T (p.Asp2459Val) c.7367A>T (p.Asp2456Val) c.7382A>T (p.Asp2461Val) c.1679A>T (p.Asp560Val) | |
| X | g.31773997T>C | CA412658748 | DMD | c.2351A>G (p.Asp784Gly) c.125A>G (p.Asp42Gly) n.1166A>G n.1088A>G n.997A>G c.7505A>G (p.Asp2502Gly) c.3473A>G (p.Asp1158Gly) c.494A>G (p.Asp165Gly) c.593A>G (p.Asp198Gly) c.7493A>G (p.Asp2498Gly) c.262A>G (n.262A>G) c.7490A>G (p.Asp2497Gly) c.7502A>G (p.Asp2501Gly) c.7481A>G (p.Asp2494Gly) c.7136A>G (p.Asp2379Gly) c.3482A>G (p.Asp1161Gly) c.7376A>G (p.Asp2459Gly) c.7367A>G (p.Asp2456Gly) c.7382A>G (p.Asp2461Gly) c.1679A>G (p.Asp560Gly) | dbSNP |
| X | g.31773997T>G | CA412658750 | DMD | c.2351A>C (p.Asp784Ala) c.125A>C (p.Asp42Ala) n.1166A>C n.1088A>C n.997A>C c.7505A>C (p.Asp2502Ala) c.3473A>C (p.Asp1158Ala) c.494A>C (p.Asp165Ala) c.593A>C (p.Asp198Ala) c.7493A>C (p.Asp2498Ala) c.262A>C (n.262A>C) c.7490A>C (p.Asp2497Ala) c.7502A>C (p.Asp2501Ala) c.7481A>C (p.Asp2494Ala) c.7136A>C (p.Asp2379Ala) c.3482A>C (p.Asp1161Ala) c.7376A>C (p.Asp2459Ala) c.7367A>C (p.Asp2456Ala) c.7382A>C (p.Asp2461Ala) c.1679A>C (p.Asp560Ala) | |
| X | g.31773997T= | CA2422548616 | DMD | c.2351A= (p.Asp784=) c.125A= (p.Asp42=) n.1166A= n.1088A= n.997A= c.7505A= (p.Asp2502=) c.3473A= (p.Asp1158=) c.494A= (p.Asp165=) c.593A= (p.Asp198=) c.7493A= (p.Asp2498=) c.262A= (n.262A=) c.7490A= (p.Asp2497=) c.7502A= (p.Asp2501=) c.7481A= (p.Asp2494=) c.7136A= (p.Asp2379=) c.3482A= (p.Asp1161=) c.7376A= (p.Asp2459=) c.7367A= (p.Asp2456=) c.7382A= (p.Asp2461=) c.1679A= (p.Asp560=) | |
| X | g.31773998C>A | CA412658752 | DMD | c.2350G>T (p.Asp784Tyr) c.124G>T (p.Asp42Tyr) n.1165G>T n.1087G>T n.996G>T c.7504G>T (p.Asp2502Tyr) c.3472G>T (p.Asp1158Tyr) c.493G>T (p.Asp165Tyr) c.592G>T (p.Asp198Tyr) c.7492G>T (p.Asp2498Tyr) c.261G>T (n.261G>T) c.7489G>T (p.Asp2497Tyr) c.7501G>T (p.Asp2501Tyr) c.7480G>T (p.Asp2494Tyr) c.7135G>T (p.Asp2379Tyr) c.3481G>T (p.Asp1161Tyr) c.7375G>T (p.Asp2459Tyr) c.7366G>T (p.Asp2456Tyr) c.7381G>T (p.Asp2461Tyr) c.1678G>T (p.Asp560Tyr) | |
| X | g.31773998C>G | CA412658754 | DMD | c.2350G>C (p.Asp784His) c.124G>C (p.Asp42His) n.1165G>C n.1087G>C n.996G>C c.7504G>C (p.Asp2502His) c.3472G>C (p.Asp1158His) c.493G>C (p.Asp165His) c.592G>C (p.Asp198His) c.7492G>C (p.Asp2498His) c.261G>C (n.261G>C) c.7489G>C (p.Asp2497His) c.7501G>C (p.Asp2501His) c.7480G>C (p.Asp2494His) c.7135G>C (p.Asp2379His) c.3481G>C (p.Asp1161His) c.7375G>C (p.Asp2459His) c.7366G>C (p.Asp2456His) c.7381G>C (p.Asp2461His) c.1678G>C (p.Asp560His) | |
| X | g.31773998C>T | CA412658756 | DMD | c.2350G>A (p.Asp784Asn) c.124G>A (p.Asp42Asn) n.1165G>A n.1087G>A n.996G>A c.7504G>A (p.Asp2502Asn) c.3472G>A (p.Asp1158Asn) c.493G>A (p.Asp165Asn) c.592G>A (p.Asp198Asn) c.7492G>A (p.Asp2498Asn) c.261G>A (n.261G>A) c.7489G>A (p.Asp2497Asn) c.7501G>A (p.Asp2501Asn) c.7480G>A (p.Asp2494Asn) c.7135G>A (p.Asp2379Asn) c.3481G>A (p.Asp1161Asn) c.7375G>A (p.Asp2459Asn) c.7366G>A (p.Asp2456Asn) c.7381G>A (p.Asp2461Asn) c.1678G>A (p.Asp560Asn) | gnomAD v4 |
| X | g.31773999A>C | CA515859304 | DMD | c.2349T>G (p.Gly783=) c.123T>G (p.Gly41=) n.1164T>G n.1086T>G n.995T>G c.7503T>G (p.Gly2501=) c.3471T>G (p.Gly1157=) c.492T>G (p.Gly164=) c.591T>G (p.Gly197=) c.7491T>G (p.Gly2497=) c.260T>G (n.260T>G) c.7488T>G (p.Gly2496=) c.7500T>G (p.Gly2500=) c.7479T>G (p.Gly2493=) c.7134T>G (p.Gly2378=) c.3480T>G (p.Gly1160=) c.7374T>G (p.Gly2458=) c.7365T>G (p.Gly2455=) c.7380T>G (p.Gly2460=) c.1677T>G (p.Gly559=) | |
| X | g.31773999A>G | CA515859305 | DMD | c.2349T>C (p.Gly783=) c.123T>C (p.Gly41=) n.1164T>C n.1086T>C n.995T>C c.7503T>C (p.Gly2501=) c.3471T>C (p.Gly1157=) c.492T>C (p.Gly164=) c.591T>C (p.Gly197=) c.7491T>C (p.Gly2497=) c.260T>C (n.260T>C) c.7488T>C (p.Gly2496=) c.7500T>C (p.Gly2500=) c.7479T>C (p.Gly2493=) c.7134T>C (p.Gly2378=) c.3480T>C (p.Gly1160=) c.7374T>C (p.Gly2458=) c.7365T>C (p.Gly2455=) c.7380T>C (p.Gly2460=) c.1677T>C (p.Gly559=) | |
| X | g.31773999A>T | CA515859306 | DMD | c.2349T>A (p.Gly783=) c.123T>A (p.Gly41=) n.1164T>A n.1086T>A n.995T>A c.7503T>A (p.Gly2501=) c.3471T>A (p.Gly1157=) c.492T>A (p.Gly164=) c.591T>A (p.Gly197=) c.7491T>A (p.Gly2497=) c.260T>A (n.260T>A) c.7488T>A (p.Gly2496=) c.7500T>A (p.Gly2500=) c.7479T>A (p.Gly2493=) c.7134T>A (p.Gly2378=) c.3480T>A (p.Gly1160=) c.7374T>A (p.Gly2458=) c.7365T>A (p.Gly2455=) c.7380T>A (p.Gly2460=) c.1677T>A (p.Gly559=) | gnomAD v4 |
| X | g.31774000C>A | CA412658760 | DMD | c.2348G>T (p.Gly783Val) c.122G>T (p.Gly41Val) n.1163G>T n.1085G>T n.994G>T c.7502G>T (p.Gly2501Val) c.3470G>T (p.Gly1157Val) c.491G>T (p.Gly164Val) c.590G>T (p.Gly197Val) c.7490G>T (p.Gly2497Val) c.259G>T (n.259G>T) c.7487G>T (p.Gly2496Val) c.7499G>T (p.Gly2500Val) c.7478G>T (p.Gly2493Val) c.7133G>T (p.Gly2378Val) c.3479G>T (p.Gly1160Val) c.7373G>T (p.Gly2458Val) c.7364G>T (p.Gly2455Val) c.7379G>T (p.Gly2460Val) c.1676G>T (p.Gly559Val) | |
| X | g.31774000C= | CA2422548617 | DMD | c.2348G= (p.Gly783=) c.122G= (p.Gly41=) n.1163G= n.1085G= n.994G= c.7502G= (p.Gly2501=) c.3470G= (p.Gly1157=) c.491G= (p.Gly164=) c.590G= (p.Gly197=) c.7490G= (p.Gly2497=) c.259G= (n.259G=) c.7487G= (p.Gly2496=) c.7499G= (p.Gly2500=) c.7478G= (p.Gly2493=) c.7133G= (p.Gly2378=) c.3479G= (p.Gly1160=) c.7373G= (p.Gly2458=) c.7364G= (p.Gly2455=) c.7379G= (p.Gly2460=) c.1676G= (p.Gly559=) | |
| X | g.31774000C>G | CA412658759 | DMD | c.2348G>C (p.Gly783Ala) c.122G>C (p.Gly41Ala) n.1163G>C n.1085G>C n.994G>C c.7502G>C (p.Gly2501Ala) c.3470G>C (p.Gly1157Ala) c.491G>C (p.Gly164Ala) c.590G>C (p.Gly197Ala) c.7490G>C (p.Gly2497Ala) c.259G>C (n.259G>C) c.7487G>C (p.Gly2496Ala) c.7499G>C (p.Gly2500Ala) c.7478G>C (p.Gly2493Ala) c.7133G>C (p.Gly2378Ala) c.3479G>C (p.Gly1160Ala) c.7373G>C (p.Gly2458Ala) c.7364G>C (p.Gly2455Ala) c.7379G>C (p.Gly2460Ala) c.1676G>C (p.Gly559Ala) | |
| X | g.31774000C>T | CA10378269 | DMD | c.2348G>A (p.Gly783Asp) c.122G>A (p.Gly41Asp) n.1163G>A n.1085G>A n.994G>A c.7502G>A (p.Gly2501Asp) c.3470G>A (p.Gly1157Asp) c.491G>A (p.Gly164Asp) c.590G>A (p.Gly197Asp) c.7490G>A (p.Gly2497Asp) c.259G>A (n.259G>A) c.7487G>A (p.Gly2496Asp) c.7499G>A (p.Gly2500Asp) c.7478G>A (p.Gly2493Asp) c.7133G>A (p.Gly2378Asp) c.3479G>A (p.Gly1160Asp) c.7373G>A (p.Gly2458Asp) c.7364G>A (p.Gly2455Asp) c.7379G>A (p.Gly2460Asp) c.1676G>A (p.Gly559Asp) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.31774001C>A | CA412658763 | DMD | c.2347G>T (p.Gly783Cys) c.121G>T (p.Gly41Cys) n.1162G>T n.1084G>T n.993G>T c.7501G>T (p.Gly2501Cys) c.3469G>T (p.Gly1157Cys) c.490G>T (p.Gly164Cys) c.589G>T (p.Gly197Cys) c.7489G>T (p.Gly2497Cys) c.258G>T (n.258G>T) c.7486G>T (p.Gly2496Cys) c.7498G>T (p.Gly2500Cys) c.7477G>T (p.Gly2493Cys) c.7132G>T (p.Gly2378Cys) c.3478G>T (p.Gly1160Cys) c.7372G>T (p.Gly2458Cys) c.7363G>T (p.Gly2455Cys) c.7378G>T (p.Gly2460Cys) c.1675G>T (p.Gly559Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.31774001C= | CA2422548618 | DMD | c.2347G= (p.Gly783=) c.121G= (p.Gly41=) n.1162G= n.1084G= n.993G= c.7501G= (p.Gly2501=) c.3469G= (p.Gly1157=) c.490G= (p.Gly164=) c.589G= (p.Gly197=) c.7489G= (p.Gly2497=) c.258G= (n.258G=) c.7486G= (p.Gly2496=) c.7498G= (p.Gly2500=) c.7477G= (p.Gly2493=) c.7132G= (p.Gly2378=) c.3478G= (p.Gly1160=) c.7372G= (p.Gly2458=) c.7363G= (p.Gly2455=) c.7378G= (p.Gly2460=) c.1675G= (p.Gly559=) | |
| X | g.31774001C>G | CA412658765 | DMD | c.2347G>C (p.Gly783Arg) c.121G>C (p.Gly41Arg) n.1162G>C n.1084G>C n.993G>C c.7501G>C (p.Gly2501Arg) c.3469G>C (p.Gly1157Arg) c.490G>C (p.Gly164Arg) c.589G>C (p.Gly197Arg) c.7489G>C (p.Gly2497Arg) c.258G>C (n.258G>C) c.7486G>C (p.Gly2496Arg) c.7498G>C (p.Gly2500Arg) c.7477G>C (p.Gly2493Arg) c.7132G>C (p.Gly2378Arg) c.3478G>C (p.Gly1160Arg) c.7372G>C (p.Gly2458Arg) c.7363G>C (p.Gly2455Arg) c.7378G>C (p.Gly2460Arg) c.1675G>C (p.Gly559Arg) | |
| X | g.31774001C>T | CA412658766 | DMD | c.2347G>A (p.Gly783Ser) c.121G>A (p.Gly41Ser) n.1162G>A n.1084G>A n.993G>A c.7501G>A (p.Gly2501Ser) c.3469G>A (p.Gly1157Ser) c.490G>A (p.Gly164Ser) c.589G>A (p.Gly197Ser) c.7489G>A (p.Gly2497Ser) c.258G>A (n.258G>A) c.7486G>A (p.Gly2496Ser) c.7498G>A (p.Gly2500Ser) c.7477G>A (p.Gly2493Ser) c.7132G>A (p.Gly2378Ser) c.3478G>A (p.Gly1160Ser) c.7372G>A (p.Gly2458Ser) c.7363G>A (p.Gly2455Ser) c.7378G>A (p.Gly2460Ser) c.1675G>A (p.Gly559Ser) | |
| X | g.31774002C>A | CA515859307 | DMD | c.2346G>T (p.Val782=) c.120G>T (p.Val40=) n.1161G>T n.1083G>T n.992G>T c.7500G>T (p.Val2500=) c.3468G>T (p.Val1156=) c.489G>T (p.Val163=) c.588G>T (p.Val196=) c.7488G>T (p.Val2496=) c.257G>T (n.257G>T) c.7485G>T (p.Val2495=) c.7497G>T (p.Val2499=) c.7476G>T (p.Val2492=) c.7131G>T (p.Val2377=) c.3477G>T (p.Val1159=) c.7371G>T (p.Val2457=) c.7362G>T (p.Val2454=) c.7377G>T (p.Val2459=) c.1674G>T (p.Val558=) | |
| X | g.31774002C= | CA2422548619 | DMD | c.2346G= (p.Val782=) c.120G= (p.Val40=) n.1161G= n.1083G= n.992G= c.7500G= (p.Val2500=) c.3468G= (p.Val1156=) c.489G= (p.Val163=) c.588G= (p.Val196=) c.7488G= (p.Val2496=) c.257G= (n.257G=) c.7485G= (p.Val2495=) c.7497G= (p.Val2499=) c.7476G= (p.Val2492=) c.7131G= (p.Val2377=) c.3477G= (p.Val1159=) c.7371G= (p.Val2457=) c.7362G= (p.Val2454=) c.7377G= (p.Val2459=) c.1674G= (p.Val558=) | |
| X | g.31774002C>G | CA515859309 | DMD | c.2346G>C (p.Val782=) c.120G>C (p.Val40=) n.1161G>C n.1083G>C n.992G>C c.7500G>C (p.Val2500=) c.3468G>C (p.Val1156=) c.489G>C (p.Val163=) c.588G>C (p.Val196=) c.7488G>C (p.Val2496=) c.257G>C (n.257G>C) c.7485G>C (p.Val2495=) c.7497G>C (p.Val2499=) c.7476G>C (p.Val2492=) c.7131G>C (p.Val2377=) c.3477G>C (p.Val1159=) c.7371G>C (p.Val2457=) c.7362G>C (p.Val2454=) c.7377G>C (p.Val2459=) c.1674G>C (p.Val558=) | |
| X | g.31774002C>T | CA515859308 | DMD | c.2346G>A (p.Val782=) c.120G>A (p.Val40=) n.1161G>A n.1083G>A n.992G>A c.7500G>A (p.Val2500=) c.3468G>A (p.Val1156=) c.489G>A (p.Val163=) c.588G>A (p.Val196=) c.7488G>A (p.Val2496=) c.257G>A (n.257G>A) c.7485G>A (p.Val2495=) c.7497G>A (p.Val2499=) c.7476G>A (p.Val2492=) c.7131G>A (p.Val2377=) c.3477G>A (p.Val1159=) c.7371G>A (p.Val2457=) c.7362G>A (p.Val2454=) c.7377G>A (p.Val2459=) c.1674G>A (p.Val558=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31774003A= | CA2422548620 | DMD | c.2345T= (p.Val782=) c.119T= (p.Val40=) n.1160T= n.1082T= n.991T= c.7499T= (p.Val2500=) c.3467T= (p.Val1156=) c.488T= (p.Val163=) c.587T= (p.Val196=) c.7487T= (p.Val2496=) c.256T= (n.256T=) c.7484T= (p.Val2495=) c.7496T= (p.Val2499=) c.7475T= (p.Val2492=) c.7130T= (p.Val2377=) c.3476T= (p.Val1159=) c.7370T= (p.Val2457=) c.7361T= (p.Val2454=) c.7376T= (p.Val2459=) c.1673T= (p.Val558=) | |
| X | g.31774003A>C | CA412658769 | DMD | c.2345T>G (p.Val782Gly) c.119T>G (p.Val40Gly) n.1160T>G n.1082T>G n.991T>G c.7499T>G (p.Val2500Gly) c.3467T>G (p.Val1156Gly) c.488T>G (p.Val163Gly) c.587T>G (p.Val196Gly) c.7487T>G (p.Val2496Gly) c.256T>G (n.256T>G) c.7484T>G (p.Val2495Gly) c.7496T>G (p.Val2499Gly) c.7475T>G (p.Val2492Gly) c.7130T>G (p.Val2377Gly) c.3476T>G (p.Val1159Gly) c.7370T>G (p.Val2457Gly) c.7361T>G (p.Val2454Gly) c.7376T>G (p.Val2459Gly) c.1673T>G (p.Val558Gly) | |
| X | g.31774003A>G | CA328470488 | DMD | c.2345T>C (p.Val782Ala) c.119T>C (p.Val40Ala) n.1160T>C n.1082T>C n.991T>C c.7499T>C (p.Val2500Ala) c.3467T>C (p.Val1156Ala) c.488T>C (p.Val163Ala) c.587T>C (p.Val196Ala) c.7487T>C (p.Val2496Ala) c.256T>C (n.256T>C) c.7484T>C (p.Val2495Ala) c.7496T>C (p.Val2499Ala) c.7475T>C (p.Val2492Ala) c.7130T>C (p.Val2377Ala) c.3476T>C (p.Val1159Ala) c.7370T>C (p.Val2457Ala) c.7361T>C (p.Val2454Ala) c.7376T>C (p.Val2459Ala) c.1673T>C (p.Val558Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31774003A>T | CA412658772 | DMD | c.2345T>A (p.Val782Glu) c.119T>A (p.Val40Glu) n.1160T>A n.1082T>A n.991T>A c.7499T>A (p.Val2500Glu) c.3467T>A (p.Val1156Glu) c.488T>A (p.Val163Glu) c.587T>A (p.Val196Glu) c.7487T>A (p.Val2496Glu) c.256T>A (n.256T>A) c.7484T>A (p.Val2495Glu) c.7496T>A (p.Val2499Glu) c.7475T>A (p.Val2492Glu) c.7130T>A (p.Val2377Glu) c.3476T>A (p.Val1159Glu) c.7370T>A (p.Val2457Glu) c.7361T>A (p.Val2454Glu) c.7376T>A (p.Val2459Glu) c.1673T>A (p.Val558Glu) | |
| X | g.31774004C>A | CA412658774 | DMD | c.2344G>T (p.Val782Leu) c.118G>T (p.Val40Leu) n.1159G>T n.1081G>T n.990G>T c.7498G>T (p.Val2500Leu) c.3466G>T (p.Val1156Leu) c.487G>T (p.Val163Leu) c.586G>T (p.Val196Leu) c.7486G>T (p.Val2496Leu) c.255G>T (n.255G>T) c.7483G>T (p.Val2495Leu) c.7495G>T (p.Val2499Leu) c.7474G>T (p.Val2492Leu) c.7129G>T (p.Val2377Leu) c.3475G>T (p.Val1159Leu) c.7369G>T (p.Val2457Leu) c.7360G>T (p.Val2454Leu) c.7375G>T (p.Val2459Leu) c.1672G>T (p.Val558Leu) | |
| X | g.31774004C= | CA2422548621 | DMD | c.2344G= (p.Val782=) c.118G= (p.Val40=) n.1159G= n.1081G= n.990G= c.7498G= (p.Val2500=) c.3466G= (p.Val1156=) c.487G= (p.Val163=) c.586G= (p.Val196=) c.7486G= (p.Val2496=) c.255G= (n.255G=) c.7483G= (p.Val2495=) c.7495G= (p.Val2499=) c.7474G= (p.Val2492=) c.7129G= (p.Val2377=) c.3475G= (p.Val1159=) c.7369G= (p.Val2457=) c.7360G= (p.Val2454=) c.7375G= (p.Val2459=) c.1672G= (p.Val558=) | |
| X | g.31774004C>G | CA412658775 | DMD | c.2344G>C (p.Val782Leu) c.118G>C (p.Val40Leu) n.1159G>C n.1081G>C n.990G>C c.7498G>C (p.Val2500Leu) c.3466G>C (p.Val1156Leu) c.487G>C (p.Val163Leu) c.586G>C (p.Val196Leu) c.7486G>C (p.Val2496Leu) c.255G>C (n.255G>C) c.7483G>C (p.Val2495Leu) c.7495G>C (p.Val2499Leu) c.7474G>C (p.Val2492Leu) c.7129G>C (p.Val2377Leu) c.3475G>C (p.Val1159Leu) c.7369G>C (p.Val2457Leu) c.7360G>C (p.Val2454Leu) c.7375G>C (p.Val2459Leu) c.1672G>C (p.Val558Leu) | |
| X | g.31774004C>T | CA412658777 | DMD | c.2344G>A (p.Val782Met) c.118G>A (p.Val40Met) n.1159G>A n.1081G>A n.990G>A c.7498G>A (p.Val2500Met) c.3466G>A (p.Val1156Met) c.487G>A (p.Val163Met) c.586G>A (p.Val196Met) c.7486G>A (p.Val2496Met) c.255G>A (n.255G>A) c.7483G>A (p.Val2495Met) c.7495G>A (p.Val2499Met) c.7474G>A (p.Val2492Met) c.7129G>A (p.Val2377Met) c.3475G>A (p.Val1159Met) c.7369G>A (p.Val2457Met) c.7360G>A (p.Val2454Met) c.7375G>A (p.Val2459Met) c.1672G>A (p.Val558Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.31774005C>A | CA412658779 | DMD | c.2343G>T (p.Met781Ile) c.117G>T (p.Met39Ile) n.1158G>T n.1080G>T n.989G>T c.7497G>T (p.Met2499Ile) c.3465G>T (p.Met1155Ile) c.486G>T (p.Met162Ile) c.585G>T (p.Met195Ile) c.7485G>T (p.Met2495Ile) c.254G>T (n.254G>T) c.7482G>T (p.Met2494Ile) c.7494G>T (p.Met2498Ile) c.7473G>T (p.Met2491Ile) c.7128G>T (p.Met2376Ile) c.3474G>T (p.Met1158Ile) c.7368G>T (p.Met2456Ile) c.7359G>T (p.Met2453Ile) c.7374G>T (p.Met2458Ile) c.1671G>T (p.Met557Ile) | |
| X | g.31774005C>G | CA412658781 | DMD | c.2343G>C (p.Met781Ile) c.117G>C (p.Met39Ile) n.1158G>C n.1080G>C n.989G>C c.7497G>C (p.Met2499Ile) c.3465G>C (p.Met1155Ile) c.486G>C (p.Met162Ile) c.585G>C (p.Met195Ile) c.7485G>C (p.Met2495Ile) c.254G>C (n.254G>C) c.7482G>C (p.Met2494Ile) c.7494G>C (p.Met2498Ile) c.7473G>C (p.Met2491Ile) c.7128G>C (p.Met2376Ile) c.3474G>C (p.Met1158Ile) c.7368G>C (p.Met2456Ile) c.7359G>C (p.Met2453Ile) c.7374G>C (p.Met2458Ile) c.1671G>C (p.Met557Ile) | |
| X | g.31774005C>T | CA412658782 | DMD | c.2343G>A (p.Met781Ile) c.117G>A (p.Met39Ile) n.1158G>A n.1080G>A n.989G>A c.7497G>A (p.Met2499Ile) c.3465G>A (p.Met1155Ile) c.486G>A (p.Met162Ile) c.585G>A (p.Met195Ile) c.7485G>A (p.Met2495Ile) c.254G>A (n.254G>A) c.7482G>A (p.Met2494Ile) c.7494G>A (p.Met2498Ile) c.7473G>A (p.Met2491Ile) c.7128G>A (p.Met2376Ile) c.3474G>A (p.Met1158Ile) c.7368G>A (p.Met2456Ile) c.7359G>A (p.Met2453Ile) c.7374G>A (p.Met2458Ile) c.1671G>A (p.Met557Ile) | |
| X | g.31774006A>C | CA412658784 | DMD | c.2342T>G (p.Met781Arg) c.116T>G (p.Met39Arg) n.1157T>G n.1079T>G n.988T>G c.7496T>G (p.Met2499Arg) c.3464T>G (p.Met1155Arg) c.485T>G (p.Met162Arg) c.584T>G (p.Met195Arg) c.7484T>G (p.Met2495Arg) c.253T>G (n.253T>G) c.7481T>G (p.Met2494Arg) c.7493T>G (p.Met2498Arg) c.7472T>G (p.Met2491Arg) c.7127T>G (p.Met2376Arg) c.3473T>G (p.Met1158Arg) c.7367T>G (p.Met2456Arg) c.7358T>G (p.Met2453Arg) c.7373T>G (p.Met2458Arg) c.1670T>G (p.Met557Arg) | |
| X | g.31774006A>G | CA412658785 | DMD | c.2342T>C (p.Met781Thr) c.116T>C (p.Met39Thr) n.1157T>C n.1079T>C n.988T>C c.7496T>C (p.Met2499Thr) c.3464T>C (p.Met1155Thr) c.485T>C (p.Met162Thr) c.584T>C (p.Met195Thr) c.7484T>C (p.Met2495Thr) c.253T>C (n.253T>C) c.7481T>C (p.Met2494Thr) c.7493T>C (p.Met2498Thr) c.7472T>C (p.Met2491Thr) c.7127T>C (p.Met2376Thr) c.3473T>C (p.Met1158Thr) c.7367T>C (p.Met2456Thr) c.7358T>C (p.Met2453Thr) c.7373T>C (p.Met2458Thr) c.1670T>C (p.Met557Thr) | gnomAD v4 |
| X | g.31774006A>T | CA412658783 | DMD | c.2342T>A (p.Met781Lys) c.116T>A (p.Met39Lys) n.1157T>A n.1079T>A n.988T>A c.7496T>A (p.Met2499Lys) c.3464T>A (p.Met1155Lys) c.485T>A (p.Met162Lys) c.584T>A (p.Met195Lys) c.7484T>A (p.Met2495Lys) c.253T>A (n.253T>A) c.7481T>A (p.Met2494Lys) c.7493T>A (p.Met2498Lys) c.7472T>A (p.Met2491Lys) c.7127T>A (p.Met2376Lys) c.3473T>A (p.Met1158Lys) c.7367T>A (p.Met2456Lys) c.7358T>A (p.Met2453Lys) c.7373T>A (p.Met2458Lys) c.1670T>A (p.Met557Lys) | |
| X | g.31774007T>A | CA412658786 | DMD | c.2341A>T (p.Met781Leu) c.115A>T (p.Met39Leu) n.1156A>T n.1078A>T n.987A>T c.7495A>T (p.Met2499Leu) c.3463A>T (p.Met1155Leu) c.484A>T (p.Met162Leu) c.583A>T (p.Met195Leu) c.7483A>T (p.Met2495Leu) c.252A>T (n.252A>T) c.7480A>T (p.Met2494Leu) c.7492A>T (p.Met2498Leu) c.7471A>T (p.Met2491Leu) c.7126A>T (p.Met2376Leu) c.3472A>T (p.Met1158Leu) c.7366A>T (p.Met2456Leu) c.7357A>T (p.Met2453Leu) c.7372A>T (p.Met2458Leu) c.1669A>T (p.Met557Leu) | |
| X | g.31774007T>C | CA412658787 | DMD | c.2341A>G (p.Met781Val) c.115A>G (p.Met39Val) n.1156A>G n.1078A>G n.987A>G c.7495A>G (p.Met2499Val) c.3463A>G (p.Met1155Val) c.484A>G (p.Met162Val) c.583A>G (p.Met195Val) c.7483A>G (p.Met2495Val) c.252A>G (n.252A>G) c.7480A>G (p.Met2494Val) c.7492A>G (p.Met2498Val) c.7471A>G (p.Met2491Val) c.7126A>G (p.Met2376Val) c.3472A>G (p.Met1158Val) c.7366A>G (p.Met2456Val) c.7357A>G (p.Met2453Val) c.7372A>G (p.Met2458Val) c.1669A>G (p.Met557Val) | |
| X | g.31774007T>G | CA412658790 | DMD | c.2341A>C (p.Met781Leu) c.115A>C (p.Met39Leu) n.1156A>C n.1078A>C n.987A>C c.7495A>C (p.Met2499Leu) c.3463A>C (p.Met1155Leu) c.484A>C (p.Met162Leu) c.583A>C (p.Met195Leu) c.7483A>C (p.Met2495Leu) c.252A>C (n.252A>C) c.7480A>C (p.Met2494Leu) c.7492A>C (p.Met2498Leu) c.7471A>C (p.Met2491Leu) c.7126A>C (p.Met2376Leu) c.3472A>C (p.Met1158Leu) c.7366A>C (p.Met2456Leu) c.7357A>C (p.Met2453Leu) c.7372A>C (p.Met2458Leu) c.1669A>C (p.Met557Leu) | |
| X | g.31774008C>A | CA515859310 | DMD | c.2340G>T (p.Val780=) c.114G>T (p.Val38=) n.1155G>T n.1077G>T n.986G>T c.7494G>T (p.Val2498=) c.3462G>T (p.Val1154=) c.483G>T (p.Val161=) c.582G>T (p.Val194=) c.7482G>T (p.Val2494=) c.251G>T (n.251G>T) c.7479G>T (p.Val2493=) c.7491G>T (p.Val2497=) c.7470G>T (p.Val2490=) c.7125G>T (p.Val2375=) c.3471G>T (p.Val1157=) c.7365G>T (p.Val2455=) c.7356G>T (p.Val2452=) c.7371G>T (p.Val2457=) c.1668G>T (p.Val556=) | |
| X | g.31774008C= | CA2422548622 | DMD | c.2340G= (p.Val780=) c.114G= (p.Val38=) n.1155G= n.1077G= n.986G= c.7494G= (p.Val2498=) c.3462G= (p.Val1154=) c.483G= (p.Val161=) c.582G= (p.Val194=) c.7482G= (p.Val2494=) c.251G= (n.251G=) c.7479G= (p.Val2493=) c.7491G= (p.Val2497=) c.7470G= (p.Val2490=) c.7125G= (p.Val2375=) c.3471G= (p.Val1157=) c.7365G= (p.Val2455=) c.7356G= (p.Val2452=) c.7371G= (p.Val2457=) c.1668G= (p.Val556=) | |
| X | g.31774008C>G | CA515859311 | DMD | c.2340G>C (p.Val780=) c.114G>C (p.Val38=) n.1155G>C n.1077G>C n.986G>C c.7494G>C (p.Val2498=) c.3462G>C (p.Val1154=) c.483G>C (p.Val161=) c.582G>C (p.Val194=) c.7482G>C (p.Val2494=) c.251G>C (n.251G>C) c.7479G>C (p.Val2493=) c.7491G>C (p.Val2497=) c.7470G>C (p.Val2490=) c.7125G>C (p.Val2375=) c.3471G>C (p.Val1157=) c.7365G>C (p.Val2455=) c.7356G>C (p.Val2452=) c.7371G>C (p.Val2457=) c.1668G>C (p.Val556=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31774008C>T | CA328470489 | DMD | c.2340G>A (p.Val780=) c.114G>A (p.Val38=) n.1155G>A n.1077G>A n.986G>A c.7494G>A (p.Val2498=) c.3462G>A (p.Val1154=) c.483G>A (p.Val161=) c.582G>A (p.Val194=) c.7482G>A (p.Val2494=) c.251G>A (n.251G>A) c.7479G>A (p.Val2493=) c.7491G>A (p.Val2497=) c.7470G>A (p.Val2490=) c.7125G>A (p.Val2375=) c.3471G>A (p.Val1157=) c.7365G>A (p.Val2455=) c.7356G>A (p.Val2452=) c.7371G>A (p.Val2457=) c.1668G>A (p.Val556=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.31774009A>C | CA412658792 | DMD | c.2339T>G (p.Val780Gly) c.113T>G (p.Val38Gly) n.1154T>G n.1076T>G n.985T>G c.7493T>G (p.Val2498Gly) c.3461T>G (p.Val1154Gly) c.482T>G (p.Val161Gly) c.581T>G (p.Val194Gly) c.7481T>G (p.Val2494Gly) c.250T>G (n.250T>G) c.7478T>G (p.Val2493Gly) c.7490T>G (p.Val2497Gly) c.7469T>G (p.Val2490Gly) c.7124T>G (p.Val2375Gly) c.3470T>G (p.Val1157Gly) c.7364T>G (p.Val2455Gly) c.7355T>G (p.Val2452Gly) c.7370T>G (p.Val2457Gly) c.1667T>G (p.Val556Gly) | |
| X | g.31774009A>G | CA412658794 | DMD | c.2339T>C (p.Val780Ala) c.113T>C (p.Val38Ala) n.1154T>C n.1076T>C n.985T>C c.7493T>C (p.Val2498Ala) c.3461T>C (p.Val1154Ala) c.482T>C (p.Val161Ala) c.581T>C (p.Val194Ala) c.7481T>C (p.Val2494Ala) c.250T>C (n.250T>C) c.7478T>C (p.Val2493Ala) c.7490T>C (p.Val2497Ala) c.7469T>C (p.Val2490Ala) c.7124T>C (p.Val2375Ala) c.3470T>C (p.Val1157Ala) c.7364T>C (p.Val2455Ala) c.7355T>C (p.Val2452Ala) c.7370T>C (p.Val2457Ala) c.1667T>C (p.Val556Ala) | |
| X | g.31774009A>T | CA412658795 | DMD | c.2339T>A (p.Val780Glu) c.113T>A (p.Val38Glu) n.1154T>A n.1076T>A n.985T>A c.7493T>A (p.Val2498Glu) c.3461T>A (p.Val1154Glu) c.482T>A (p.Val161Glu) c.581T>A (p.Val194Glu) c.7481T>A (p.Val2494Glu) c.250T>A (n.250T>A) c.7478T>A (p.Val2493Glu) c.7490T>A (p.Val2497Glu) c.7469T>A (p.Val2490Glu) c.7124T>A (p.Val2375Glu) c.3470T>A (p.Val1157Glu) c.7364T>A (p.Val2455Glu) c.7355T>A (p.Val2452Glu) c.7370T>A (p.Val2457Glu) c.1667T>A (p.Val556Glu) | ClinVar |
| X | g.31774010C>A | CA412658797 | DMD | c.2338G>T (p.Val780Leu) c.112G>T (p.Val38Leu) n.1153G>T n.1075G>T n.984G>T c.7492G>T (p.Val2498Leu) c.3460G>T (p.Val1154Leu) c.481G>T (p.Val161Leu) c.580G>T (p.Val194Leu) c.7480G>T (p.Val2494Leu) c.249G>T (n.249G>T) c.7477G>T (p.Val2493Leu) c.7489G>T (p.Val2497Leu) c.7468G>T (p.Val2490Leu) c.7123G>T (p.Val2375Leu) c.3469G>T (p.Val1157Leu) c.7363G>T (p.Val2455Leu) c.7354G>T (p.Val2452Leu) c.7369G>T (p.Val2457Leu) c.1666G>T (p.Val556Leu) | gnomAD v4 |
| X | g.31774010C= | CA2422548623 | DMD | c.2338G= (p.Val780=) c.112G= (p.Val38=) n.1153G= n.1075G= n.984G= c.7492G= (p.Val2498=) c.3460G= (p.Val1154=) c.481G= (p.Val161=) c.580G= (p.Val194=) c.7480G= (p.Val2494=) c.249G= (n.249G=) c.7477G= (p.Val2493=) c.7489G= (p.Val2497=) c.7468G= (p.Val2490=) c.7123G= (p.Val2375=) c.3469G= (p.Val1157=) c.7363G= (p.Val2455=) c.7354G= (p.Val2452=) c.7369G= (p.Val2457=) c.1666G= (p.Val556=) | |
| X | g.31774010C>G | CA412658800 | DMD | c.2338G>C (p.Val780Leu) c.112G>C (p.Val38Leu) n.1153G>C n.1075G>C n.984G>C c.7492G>C (p.Val2498Leu) c.3460G>C (p.Val1154Leu) c.481G>C (p.Val161Leu) c.580G>C (p.Val194Leu) c.7480G>C (p.Val2494Leu) c.249G>C (n.249G>C) c.7477G>C (p.Val2493Leu) c.7489G>C (p.Val2497Leu) c.7468G>C (p.Val2490Leu) c.7123G>C (p.Val2375Leu) c.3469G>C (p.Val1157Leu) c.7363G>C (p.Val2455Leu) c.7354G>C (p.Val2452Leu) c.7369G>C (p.Val2457Leu) c.1666G>C (p.Val556Leu) | |
| X | g.31774010C>T | CA328470490 | DMD | c.2338G>A (p.Val780Met) c.112G>A (p.Val38Met) n.1153G>A n.1075G>A n.984G>A c.7492G>A (p.Val2498Met) c.3460G>A (p.Val1154Met) c.481G>A (p.Val161Met) c.580G>A (p.Val194Met) c.7480G>A (p.Val2494Met) c.249G>A (n.249G>A) c.7477G>A (p.Val2493Met) c.7489G>A (p.Val2497Met) c.7468G>A (p.Val2490Met) c.7123G>A (p.Val2375Met) c.3469G>A (p.Val1157Met) c.7363G>A (p.Val2455Met) c.7354G>A (p.Val2452Met) c.7369G>A (p.Val2457Met) c.1666G>A (p.Val556Met) | dbSNP gnomAD v4 |
| X | g.31774011C>A | CA412658802 | DMD | c.2337G>T (p.Arg779Ser) c.111G>T (p.Arg37Ser) n.1152G>T n.1074G>T n.983G>T c.7491G>T (p.Arg2497Ser) c.3459G>T (p.Arg1153Ser) c.480G>T (p.Arg160Ser) c.579G>T (p.Arg193Ser) c.7479G>T (p.Arg2493Ser) c.248G>T (n.248G>T) c.7476G>T (p.Arg2492Ser) c.7488G>T (p.Arg2496Ser) c.7467G>T (p.Arg2489Ser) c.7122G>T (p.Arg2374Ser) c.3468G>T (p.Arg1156Ser) c.7362G>T (p.Arg2454Ser) c.7353G>T (p.Arg2451Ser) c.7368G>T (p.Arg2456Ser) c.1665G>T (p.Arg555Ser) | |
| X | g.31774011C>G | CA412658804 | DMD | c.2337G>C (p.Arg779Ser) c.111G>C (p.Arg37Ser) n.1152G>C n.1074G>C n.983G>C c.7491G>C (p.Arg2497Ser) c.3459G>C (p.Arg1153Ser) c.480G>C (p.Arg160Ser) c.579G>C (p.Arg193Ser) c.7479G>C (p.Arg2493Ser) c.248G>C (n.248G>C) c.7476G>C (p.Arg2492Ser) c.7488G>C (p.Arg2496Ser) c.7467G>C (p.Arg2489Ser) c.7122G>C (p.Arg2374Ser) c.3468G>C (p.Arg1156Ser) c.7362G>C (p.Arg2454Ser) c.7353G>C (p.Arg2451Ser) c.7368G>C (p.Arg2456Ser) c.1665G>C (p.Arg555Ser) | ClinVar |
| X | g.31774011C>T | CA515859312 | DMD | c.2337G>A (p.Arg779=) c.111G>A (p.Arg37=) n.1152G>A n.1074G>A n.983G>A c.7491G>A (p.Arg2497=) c.3459G>A (p.Arg1153=) c.480G>A (p.Arg160=) c.579G>A (p.Arg193=) c.7479G>A (p.Arg2493=) c.248G>A (n.248G>A) c.7476G>A (p.Arg2492=) c.7488G>A (p.Arg2496=) c.7467G>A (p.Arg2489=) c.7122G>A (p.Arg2374=) c.3468G>A (p.Arg1156=) c.7362G>A (p.Arg2454=) c.7353G>A (p.Arg2451=) c.7368G>A (p.Arg2456=) c.1665G>A (p.Arg555=) | ClinVar dbSNP |
| X | g.31774012C>A | CA412658806 | DMD | c.2336G>T (p.Arg779Met) c.110G>T (p.Arg37Met) n.1151G>T n.1073G>T n.982G>T c.7490G>T (p.Arg2497Met) c.3458G>T (p.Arg1153Met) c.479G>T (p.Arg160Met) c.578G>T (p.Arg193Met) c.7478G>T (p.Arg2493Met) c.247G>T (n.247G>T) c.7475G>T (p.Arg2492Met) c.7487G>T (p.Arg2496Met) c.7466G>T (p.Arg2489Met) c.7121G>T (p.Arg2374Met) c.3467G>T (p.Arg1156Met) c.7361G>T (p.Arg2454Met) c.7352G>T (p.Arg2451Met) c.7367G>T (p.Arg2456Met) c.1664G>T (p.Arg555Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.31774012C= | CA2422548624 | DMD | c.2336G= (p.Arg779=) c.110G= (p.Arg37=) n.1151G= n.1073G= n.982G= c.7490G= (p.Arg2497=) c.3458G= (p.Arg1153=) c.479G= (p.Arg160=) c.578G= (p.Arg193=) c.7478G= (p.Arg2493=) c.247G= (n.247G=) c.7475G= (p.Arg2492=) c.7487G= (p.Arg2496=) c.7466G= (p.Arg2489=) c.7121G= (p.Arg2374=) c.3467G= (p.Arg1156=) c.7361G= (p.Arg2454=) c.7352G= (p.Arg2451=) c.7367G= (p.Arg2456=) c.1664G= (p.Arg555=) | |
| X | g.31774012C>G | CA412658807 | DMD | c.2336G>C (p.Arg779Thr) c.110G>C (p.Arg37Thr) n.1151G>C n.1073G>C n.982G>C c.7490G>C (p.Arg2497Thr) c.3458G>C (p.Arg1153Thr) c.479G>C (p.Arg160Thr) c.578G>C (p.Arg193Thr) c.7478G>C (p.Arg2493Thr) c.247G>C (n.247G>C) c.7475G>C (p.Arg2492Thr) c.7487G>C (p.Arg2496Thr) c.7466G>C (p.Arg2489Thr) c.7121G>C (p.Arg2374Thr) c.3467G>C (p.Arg1156Thr) c.7361G>C (p.Arg2454Thr) c.7352G>C (p.Arg2451Thr) c.7367G>C (p.Arg2456Thr) c.1664G>C (p.Arg555Thr) | |
| X | g.31774012C>T | CA412658809 | DMD | c.2336G>A (p.Arg779Lys) c.110G>A (p.Arg37Lys) n.1151G>A n.1073G>A n.982G>A c.7490G>A (p.Arg2497Lys) c.3458G>A (p.Arg1153Lys) c.479G>A (p.Arg160Lys) c.578G>A (p.Arg193Lys) c.7478G>A (p.Arg2493Lys) c.247G>A (n.247G>A) c.7475G>A (p.Arg2492Lys) c.7487G>A (p.Arg2496Lys) c.7466G>A (p.Arg2489Lys) c.7121G>A (p.Arg2374Lys) c.3467G>A (p.Arg1156Lys) c.7361G>A (p.Arg2454Lys) c.7352G>A (p.Arg2451Lys) c.7367G>A (p.Arg2456Lys) c.1664G>A (p.Arg555Lys) | |
| X | g.31774013T>A | CA412658811 | DMD | c.2335A>T (p.Arg779Trp) c.109A>T (p.Arg37Trp) n.1150A>T n.1072A>T n.981A>T c.7489A>T (p.Arg2497Trp) c.3457A>T (p.Arg1153Trp) c.478A>T (p.Arg160Trp) c.577A>T (p.Arg193Trp) c.7477A>T (p.Arg2493Trp) c.246A>T (n.246A>T) c.7474A>T (p.Arg2492Trp) c.7486A>T (p.Arg2496Trp) c.7465A>T (p.Arg2489Trp) c.7120A>T (p.Arg2374Trp) c.3466A>T (p.Arg1156Trp) c.7360A>T (p.Arg2454Trp) c.7351A>T (p.Arg2451Trp) c.7366A>T (p.Arg2456Trp) c.1663A>T (p.Arg555Trp) | |
| X | g.31774013T>C | CA412658813 | DMD | c.2335A>G (p.Arg779Gly) c.109A>G (p.Arg37Gly) n.1150A>G n.1072A>G n.981A>G c.7489A>G (p.Arg2497Gly) c.3457A>G (p.Arg1153Gly) c.478A>G (p.Arg160Gly) c.577A>G (p.Arg193Gly) c.7477A>G (p.Arg2493Gly) c.246A>G (n.246A>G) c.7474A>G (p.Arg2492Gly) c.7486A>G (p.Arg2496Gly) c.7465A>G (p.Arg2489Gly) c.7120A>G (p.Arg2374Gly) c.3466A>G (p.Arg1156Gly) c.7360A>G (p.Arg2454Gly) c.7351A>G (p.Arg2451Gly) c.7366A>G (p.Arg2456Gly) c.1663A>G (p.Arg555Gly) | |
| X | g.31774013T>G | CA515859313 | DMD | c.2335A>C (p.Arg779=) c.109A>C (p.Arg37=) n.1150A>C n.1072A>C n.981A>C c.7489A>C (p.Arg2497=) c.3457A>C (p.Arg1153=) c.478A>C (p.Arg160=) c.577A>C (p.Arg193=) c.7477A>C (p.Arg2493=) c.246A>C (n.246A>C) c.7474A>C (p.Arg2492=) c.7486A>C (p.Arg2496=) c.7465A>C (p.Arg2489=) c.7120A>C (p.Arg2374=) c.3466A>C (p.Arg1156=) c.7360A>C (p.Arg2454=) c.7351A>C (p.Arg2451=) c.7366A>C (p.Arg2456=) c.1663A>C (p.Arg555=) | |
| X | g.31774014C>A | CA412658815 | DMD | c.2334G>T (p.Gln778His) c.108G>T (p.Gln36His) n.1149G>T n.1071G>T n.980G>T c.7488G>T (p.Gln2496His) c.3456G>T (p.Gln1152His) c.477G>T (p.Gln159His) c.576G>T (p.Gln192His) c.7476G>T (p.Gln2492His) c.245G>T (n.245G>T) c.7473G>T (p.Gln2491His) c.7485G>T (p.Gln2495His) c.7464G>T (p.Gln2488His) c.7119G>T (p.Gln2373His) c.3465G>T (p.Gln1155His) c.7359G>T (p.Gln2453His) c.7350G>T (p.Gln2450His) c.7365G>T (p.Gln2455His) c.1662G>T (p.Gln554His) | |
| X | g.31774014C>G | CA412658817 | DMD | c.2334G>C (p.Gln778His) c.108G>C (p.Gln36His) n.1149G>C n.1071G>C n.980G>C c.7488G>C (p.Gln2496His) c.3456G>C (p.Gln1152His) c.477G>C (p.Gln159His) c.576G>C (p.Gln192His) c.7476G>C (p.Gln2492His) c.245G>C (n.245G>C) c.7473G>C (p.Gln2491His) c.7485G>C (p.Gln2495His) c.7464G>C (p.Gln2488His) c.7119G>C (p.Gln2373His) c.3465G>C (p.Gln1155His) c.7359G>C (p.Gln2453His) c.7350G>C (p.Gln2450His) c.7365G>C (p.Gln2455His) c.1662G>C (p.Gln554His) | |
| X | g.31774014C>T | CA515859314 | DMD | c.2334G>A (p.Gln778=) c.108G>A (p.Gln36=) n.1149G>A n.1071G>A n.980G>A c.7488G>A (p.Gln2496=) c.3456G>A (p.Gln1152=) c.477G>A (p.Gln159=) c.576G>A (p.Gln192=) c.7476G>A (p.Gln2492=) c.245G>A (n.245G>A) c.7473G>A (p.Gln2491=) c.7485G>A (p.Gln2495=) c.7464G>A (p.Gln2488=) c.7119G>A (p.Gln2373=) c.3465G>A (p.Gln1155=) c.7359G>A (p.Gln2453=) c.7350G>A (p.Gln2450=) c.7365G>A (p.Gln2455=) c.1662G>A (p.Gln554=) | |
| X | g.31774015T>A | CA412658819 | DMD | c.2333A>T (p.Gln778Leu) c.107A>T (p.Gln36Leu) n.1148A>T n.1070A>T n.979A>T c.7487A>T (p.Gln2496Leu) c.3455A>T (p.Gln1152Leu) c.476A>T (p.Gln159Leu) c.575A>T (p.Gln192Leu) c.7475A>T (p.Gln2492Leu) c.244A>T (n.244A>T) c.7472A>T (p.Gln2491Leu) c.7484A>T (p.Gln2495Leu) c.7463A>T (p.Gln2488Leu) c.7118A>T (p.Gln2373Leu) c.3464A>T (p.Gln1155Leu) c.7358A>T (p.Gln2453Leu) c.7349A>T (p.Gln2450Leu) c.7364A>T (p.Gln2455Leu) c.1661A>T (p.Gln554Leu) | |
| X | g.31774015T>C | CA412658821 | DMD | c.2333A>G (p.Gln778Arg) c.107A>G (p.Gln36Arg) n.1148A>G n.1070A>G n.979A>G c.7487A>G (p.Gln2496Arg) c.3455A>G (p.Gln1152Arg) c.476A>G (p.Gln159Arg) c.575A>G (p.Gln192Arg) c.7475A>G (p.Gln2492Arg) c.244A>G (n.244A>G) c.7472A>G (p.Gln2491Arg) c.7484A>G (p.Gln2495Arg) c.7463A>G (p.Gln2488Arg) c.7118A>G (p.Gln2373Arg) c.3464A>G (p.Gln1155Arg) c.7358A>G (p.Gln2453Arg) c.7349A>G (p.Gln2450Arg) c.7364A>G (p.Gln2455Arg) c.1661A>G (p.Gln554Arg) | |
| X | g.31774015T>G | CA412658822 | DMD | c.2333A>C (p.Gln778Pro) c.107A>C (p.Gln36Pro) n.1148A>C n.1070A>C n.979A>C c.7487A>C (p.Gln2496Pro) c.3455A>C (p.Gln1152Pro) c.476A>C (p.Gln159Pro) c.575A>C (p.Gln192Pro) c.7475A>C (p.Gln2492Pro) c.244A>C (n.244A>C) c.7472A>C (p.Gln2491Pro) c.7484A>C (p.Gln2495Pro) c.7463A>C (p.Gln2488Pro) c.7118A>C (p.Gln2373Pro) c.3464A>C (p.Gln1155Pro) c.7358A>C (p.Gln2453Pro) c.7349A>C (p.Gln2450Pro) c.7364A>C (p.Gln2455Pro) c.1661A>C (p.Gln554Pro) | |
| X | g.31774017_31774018del | CA2830782561 | DMD | c.2332_2333del (p.Gln778GlufsTer6) c.106_107del (p.Gln36GlufsTer6) n.1147_1148del n.1069_1070del n.978_979del c.7486_7487del (p.Gln2496GlufsTer6) c.3454_3455del (p.Gln1152GlufsTer6) c.475_476del (p.Gln159GlufsTer6) c.574_575del (p.Gln192GlufsTer6) c.7474_7475del (p.Gln2492GlufsTer6) c.243_244del (n.243_244del) c.7471_7472del (p.Gln2491GlufsTer6) c.7483_7484del (p.Gln2495GlufsTer6) c.7462_7463del (p.Gln2488GlufsTer6) c.7117_7118del (p.Gln2373GlufsTer6) c.3463_3464del (p.Gln1155GlufsTer6) c.7357_7358del (p.Gln2453GlufsTer6) c.7348_7349del (p.Gln2450GlufsTer6) c.7363_7364del (p.Gln2455GlufsTer6) c.1660_1661del (p.Gln554GlufsTer6) | |
| X | g.31774016G>A | CA412658825 | DMD | c.2332C>T (p.Gln778Ter) c.106C>T (p.Gln36Ter) n.1147C>T n.1069C>T n.978C>T c.7486C>T (p.Gln2496Ter) c.3454C>T (p.Gln1152Ter) c.475C>T (p.Gln159Ter) c.574C>T (p.Gln192Ter) c.7474C>T (p.Gln2492Ter) c.243C>T (n.243C>T) c.7471C>T (p.Gln2491Ter) c.7483C>T (p.Gln2495Ter) c.7462C>T (p.Gln2488Ter) c.7117C>T (p.Gln2373Ter) c.3463C>T (p.Gln1155Ter) c.7357C>T (p.Gln2453Ter) c.7348C>T (p.Gln2450Ter) c.7363C>T (p.Gln2455Ter) c.1660C>T (p.Gln554Ter) | |
| X | g.31774016G>C | CA412658827 | DMD | c.2332C>G (p.Gln778Glu) c.106C>G (p.Gln36Glu) n.1147C>G n.1069C>G n.978C>G c.7486C>G (p.Gln2496Glu) c.3454C>G (p.Gln1152Glu) c.475C>G (p.Gln159Glu) c.574C>G (p.Gln192Glu) c.7474C>G (p.Gln2492Glu) c.243C>G (n.243C>G) c.7471C>G (p.Gln2491Glu) c.7483C>G (p.Gln2495Glu) c.7462C>G (p.Gln2488Glu) c.7117C>G (p.Gln2373Glu) c.3463C>G (p.Gln1155Glu) c.7357C>G (p.Gln2453Glu) c.7348C>G (p.Gln2450Glu) c.7363C>G (p.Gln2455Glu) c.1660C>G (p.Gln554Glu) | |
| X | g.31774016G= | CA2422548625 | DMD | c.2332C= (p.Gln778=) c.106C= (p.Gln36=) n.1147C= n.1069C= n.978C= c.7486C= (p.Gln2496=) c.3454C= (p.Gln1152=) c.475C= (p.Gln159=) c.574C= (p.Gln192=) c.7474C= (p.Gln2492=) c.243C= (n.243C=) c.7471C= (p.Gln2491=) c.7483C= (p.Gln2495=) c.7462C= (p.Gln2488=) c.7117C= (p.Gln2373=) c.3463C= (p.Gln1155=) c.7357C= (p.Gln2453=) c.7348C= (p.Gln2450=) c.7363C= (p.Gln2455=) c.1660C= (p.Gln554=) | |
| X | g.31774016G>T | CA10378270 | DMD | c.2332C>A (p.Gln778Lys) c.106C>A (p.Gln36Lys) n.1147C>A n.1069C>A n.978C>A c.7486C>A (p.Gln2496Lys) c.3454C>A (p.Gln1152Lys) c.475C>A (p.Gln159Lys) c.574C>A (p.Gln192Lys) c.7474C>A (p.Gln2492Lys) c.243C>A (n.243C>A) c.7471C>A (p.Gln2491Lys) c.7483C>A (p.Gln2495Lys) c.7462C>A (p.Gln2488Lys) c.7117C>A (p.Gln2373Lys) c.3463C>A (p.Gln1155Lys) c.7357C>A (p.Gln2453Lys) c.7348C>A (p.Gln2450Lys) c.7363C>A (p.Gln2455Lys) c.1660C>A (p.Gln554Lys) | dbSNP ExAC |
| X | g.31774017T>A | CA515859315 | DMD | c.2331A>T (p.Ser777=) c.105A>T (p.Ser35=) n.1146A>T n.1068A>T n.977A>T c.7485A>T (p.Ser2495=) c.3453A>T (p.Ser1151=) c.474A>T (p.Ser158=) c.573A>T (p.Ser191=) c.7473A>T (p.Ser2491=) c.242A>T (n.242A>T) c.7470A>T (p.Ser2490=) c.7482A>T (p.Ser2494=) c.7461A>T (p.Ser2487=) c.7116A>T (p.Ser2372=) c.3462A>T (p.Ser1154=) c.7356A>T (p.Ser2452=) c.7347A>T (p.Ser2449=) c.7362A>T (p.Ser2454=) c.1659A>T (p.Ser553=) | |
| X | g.31774017T>C | CA515859316 | DMD | c.2331A>G (p.Ser777=) c.105A>G (p.Ser35=) n.1146A>G n.1068A>G n.977A>G c.7485A>G (p.Ser2495=) c.3453A>G (p.Ser1151=) c.474A>G (p.Ser158=) c.573A>G (p.Ser191=) c.7473A>G (p.Ser2491=) c.242A>G (n.242A>G) c.7470A>G (p.Ser2490=) c.7482A>G (p.Ser2494=) c.7461A>G (p.Ser2487=) c.7116A>G (p.Ser2372=) c.3462A>G (p.Ser1154=) c.7356A>G (p.Ser2452=) c.7347A>G (p.Ser2449=) c.7362A>G (p.Ser2454=) c.1659A>G (p.Ser553=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.31774017T>G | CA515859317 | DMD | c.2331A>C (p.Ser777=) c.105A>C (p.Ser35=) n.1146A>C n.1068A>C n.977A>C c.7485A>C (p.Ser2495=) c.3453A>C (p.Ser1151=) c.474A>C (p.Ser158=) c.573A>C (p.Ser191=) c.7473A>C (p.Ser2491=) c.242A>C (n.242A>C) c.7470A>C (p.Ser2490=) c.7482A>C (p.Ser2494=) c.7461A>C (p.Ser2487=) c.7116A>C (p.Ser2372=) c.3462A>C (p.Ser1154=) c.7356A>C (p.Ser2452=) c.7347A>C (p.Ser2449=) c.7362A>C (p.Ser2454=) c.1659A>C (p.Ser553=) | |
| X | g.31774017T= | CA2422548626 | DMD | c.2331A= (p.Ser777=) c.105A= (p.Ser35=) n.1146A= n.1068A= n.977A= c.7485A= (p.Ser2495=) c.3453A= (p.Ser1151=) c.474A= (p.Ser158=) c.573A= (p.Ser191=) c.7473A= (p.Ser2491=) c.242A= (n.242A=) c.7470A= (p.Ser2490=) c.7482A= (p.Ser2494=) c.7461A= (p.Ser2487=) c.7116A= (p.Ser2372=) c.3462A= (p.Ser1154=) c.7356A= (p.Ser2452=) c.7347A= (p.Ser2449=) c.7362A= (p.Ser2454=) c.1659A= (p.Ser553=) | |
| X | g.31774018G>A | CA412658830 | DMD | c.2330C>T (p.Ser777Leu) c.104C>T (p.Ser35Leu) n.1145C>T n.1067C>T n.976C>T c.7484C>T (p.Ser2495Leu) c.3452C>T (p.Ser1151Leu) c.473C>T (p.Ser158Leu) c.572C>T (p.Ser191Leu) c.7472C>T (p.Ser2491Leu) c.241C>T (n.241C>T) c.7469C>T (p.Ser2490Leu) c.7481C>T (p.Ser2494Leu) c.7460C>T (p.Ser2487Leu) c.7115C>T (p.Ser2372Leu) c.3461C>T (p.Ser1154Leu) c.7355C>T (p.Ser2452Leu) c.7346C>T (p.Ser2449Leu) c.7361C>T (p.Ser2454Leu) c.1658C>T (p.Ser553Leu) | |
| X | g.31774018G>C | CA412658832 | DMD | c.2330C>G (p.Ser777Ter) c.104C>G (p.Ser35Ter) n.1145C>G n.1067C>G n.976C>G c.7484C>G (p.Ser2495Ter) c.3452C>G (p.Ser1151Ter) c.473C>G (p.Ser158Ter) c.572C>G (p.Ser191Ter) c.7472C>G (p.Ser2491Ter) c.241C>G (n.241C>G) c.7469C>G (p.Ser2490Ter) c.7481C>G (p.Ser2494Ter) c.7460C>G (p.Ser2487Ter) c.7115C>G (p.Ser2372Ter) c.3461C>G (p.Ser1154Ter) c.7355C>G (p.Ser2452Ter) c.7346C>G (p.Ser2449Ter) c.7361C>G (p.Ser2454Ter) c.1658C>G (p.Ser553Ter) | |
| X | g.31774018G>T | CA412658833 | DMD | c.2330C>A (p.Ser777Ter) c.104C>A (p.Ser35Ter) n.1145C>A n.1067C>A n.976C>A c.7484C>A (p.Ser2495Ter) c.3452C>A (p.Ser1151Ter) c.473C>A (p.Ser158Ter) c.572C>A (p.Ser191Ter) c.7472C>A (p.Ser2491Ter) c.241C>A (n.241C>A) c.7469C>A (p.Ser2490Ter) c.7481C>A (p.Ser2494Ter) c.7460C>A (p.Ser2487Ter) c.7115C>A (p.Ser2372Ter) c.3461C>A (p.Ser1154Ter) c.7355C>A (p.Ser2452Ter) c.7346C>A (p.Ser2449Ter) c.7361C>A (p.Ser2454Ter) c.1658C>A (p.Ser553Ter) | |
| X | g.31774019A>C | CA412658834 | DMD | c.2329T>G (p.Ser777Ala) c.103T>G (p.Ser35Ala) n.1144T>G n.1066T>G n.975T>G c.7483T>G (p.Ser2495Ala) c.3451T>G (p.Ser1151Ala) c.472T>G (p.Ser158Ala) c.571T>G (p.Ser191Ala) c.7471T>G (p.Ser2491Ala) c.240T>G (n.240T>G) c.7468T>G (p.Ser2490Ala) c.7480T>G (p.Ser2494Ala) c.7459T>G (p.Ser2487Ala) c.7114T>G (p.Ser2372Ala) c.3460T>G (p.Ser1154Ala) c.7354T>G (p.Ser2452Ala) c.7345T>G (p.Ser2449Ala) c.7360T>G (p.Ser2454Ala) c.1657T>G (p.Ser553Ala) | |
| X | g.31774019A>G | CA412658835 | DMD | c.2329T>C (p.Ser777Pro) c.103T>C (p.Ser35Pro) n.1144T>C n.1066T>C n.975T>C c.7483T>C (p.Ser2495Pro) c.3451T>C (p.Ser1151Pro) c.472T>C (p.Ser158Pro) c.571T>C (p.Ser191Pro) c.7471T>C (p.Ser2491Pro) c.240T>C (n.240T>C) c.7468T>C (p.Ser2490Pro) c.7480T>C (p.Ser2494Pro) c.7459T>C (p.Ser2487Pro) c.7114T>C (p.Ser2372Pro) c.3460T>C (p.Ser1154Pro) c.7354T>C (p.Ser2452Pro) c.7345T>C (p.Ser2449Pro) c.7360T>C (p.Ser2454Pro) c.1657T>C (p.Ser553Pro) | gnomAD v4 |
| X | g.31774019A>T | CA412658836 | DMD | c.2329T>A (p.Ser777Thr) c.103T>A (p.Ser35Thr) n.1144T>A n.1066T>A n.975T>A c.7483T>A (p.Ser2495Thr) c.3451T>A (p.Ser1151Thr) c.472T>A (p.Ser158Thr) c.571T>A (p.Ser191Thr) c.7471T>A (p.Ser2491Thr) c.240T>A (n.240T>A) c.7468T>A (p.Ser2490Thr) c.7480T>A (p.Ser2494Thr) c.7459T>A (p.Ser2487Thr) c.7114T>A (p.Ser2372Thr) c.3460T>A (p.Ser1154Thr) c.7354T>A (p.Ser2452Thr) c.7345T>A (p.Ser2449Thr) c.7360T>A (p.Ser2454Thr) c.1657T>A (p.Ser553Thr) | |
| X | g.31774020T>A | CA412658838 | DMD | c.2328A>T (p.Lys776Asn) c.102A>T (p.Lys34Asn) n.1143A>T n.1065A>T n.974A>T c.7482A>T (p.Lys2494Asn) c.3450A>T (p.Lys1150Asn) c.471A>T (p.Lys157Asn) c.570A>T (p.Lys190Asn) c.7470A>T (p.Lys2490Asn) c.239A>T (n.239A>T) c.7467A>T (p.Lys2489Asn) c.7479A>T (p.Lys2493Asn) c.7458A>T (p.Lys2486Asn) c.7113A>T (p.Lys2371Asn) c.3459A>T (p.Lys1153Asn) c.7353A>T (p.Lys2451Asn) c.7344A>T (p.Lys2448Asn) c.7359A>T (p.Lys2453Asn) c.1656A>T (p.Lys552Asn) | |
| X | g.31774020T>C | CA515859318 | DMD | c.2328A>G (p.Lys776=) c.102A>G (p.Lys34=) n.1143A>G n.1065A>G n.974A>G c.7482A>G (p.Lys2494=) c.3450A>G (p.Lys1150=) c.471A>G (p.Lys157=) c.570A>G (p.Lys190=) c.7470A>G (p.Lys2490=) c.239A>G (n.239A>G) c.7467A>G (p.Lys2489=) c.7479A>G (p.Lys2493=) c.7458A>G (p.Lys2486=) c.7113A>G (p.Lys2371=) c.3459A>G (p.Lys1153=) c.7353A>G (p.Lys2451=) c.7344A>G (p.Lys2448=) c.7359A>G (p.Lys2453=) c.1656A>G (p.Lys552=) | |
| X | g.31774020T>G | CA412658837 | DMD | c.2328A>C (p.Lys776Asn) c.102A>C (p.Lys34Asn) n.1143A>C n.1065A>C n.974A>C c.7482A>C (p.Lys2494Asn) c.3450A>C (p.Lys1150Asn) c.471A>C (p.Lys157Asn) c.570A>C (p.Lys190Asn) c.7470A>C (p.Lys2490Asn) c.239A>C (n.239A>C) c.7467A>C (p.Lys2489Asn) c.7479A>C (p.Lys2493Asn) c.7458A>C (p.Lys2486Asn) c.7113A>C (p.Lys2371Asn) c.3459A>C (p.Lys1153Asn) c.7353A>C (p.Lys2451Asn) c.7344A>C (p.Lys2448Asn) c.7359A>C (p.Lys2453Asn) c.1656A>C (p.Lys552Asn) | |
| X | g.31774021T>A | CA412658839 | DMD | c.2327A>T (p.Lys776Ile) c.101A>T (p.Lys34Ile) n.1142A>T n.1064A>T n.973A>T c.7481A>T (p.Lys2494Ile) c.3449A>T (p.Lys1150Ile) c.470A>T (p.Lys157Ile) c.569A>T (p.Lys190Ile) c.7469A>T (p.Lys2490Ile) c.238A>T (n.238A>T) c.7466A>T (p.Lys2489Ile) c.7478A>T (p.Lys2493Ile) c.7457A>T (p.Lys2486Ile) c.7112A>T (p.Lys2371Ile) c.3458A>T (p.Lys1153Ile) c.7352A>T (p.Lys2451Ile) c.7343A>T (p.Lys2448Ile) c.7358A>T (p.Lys2453Ile) c.1655A>T (p.Lys552Ile) | |
| X | g.31774021T>C | CA412658840 | DMD | c.2327A>G (p.Lys776Arg) c.101A>G (p.Lys34Arg) n.1142A>G n.1064A>G n.973A>G c.7481A>G (p.Lys2494Arg) c.3449A>G (p.Lys1150Arg) c.470A>G (p.Lys157Arg) c.569A>G (p.Lys190Arg) c.7469A>G (p.Lys2490Arg) c.238A>G (n.238A>G) c.7466A>G (p.Lys2489Arg) c.7478A>G (p.Lys2493Arg) c.7457A>G (p.Lys2486Arg) c.7112A>G (p.Lys2371Arg) c.3458A>G (p.Lys1153Arg) c.7352A>G (p.Lys2451Arg) c.7343A>G (p.Lys2448Arg) c.7358A>G (p.Lys2453Arg) c.1655A>G (p.Lys552Arg) | |
| X | g.31774021T>G | CA412658841 | DMD | c.2327A>C (p.Lys776Thr) c.101A>C (p.Lys34Thr) n.1142A>C n.1064A>C n.973A>C c.7481A>C (p.Lys2494Thr) c.3449A>C (p.Lys1150Thr) c.470A>C (p.Lys157Thr) c.569A>C (p.Lys190Thr) c.7469A>C (p.Lys2490Thr) c.238A>C (n.238A>C) c.7466A>C (p.Lys2489Thr) c.7478A>C (p.Lys2493Thr) c.7457A>C (p.Lys2486Thr) c.7112A>C (p.Lys2371Thr) c.3458A>C (p.Lys1153Thr) c.7352A>C (p.Lys2451Thr) c.7343A>C (p.Lys2448Thr) c.7358A>C (p.Lys2453Thr) c.1655A>C (p.Lys552Thr) | |
| X | g.31774022T>A | CA412658842 | DMD | c.2326A>T (p.Lys776Ter) c.100A>T (p.Lys34Ter) n.1141A>T n.1063A>T n.972A>T c.7480A>T (p.Lys2494Ter) c.3448A>T (p.Lys1150Ter) c.469A>T (p.Lys157Ter) c.568A>T (p.Lys190Ter) c.7468A>T (p.Lys2490Ter) c.237A>T (n.237A>T) c.7465A>T (p.Lys2489Ter) c.7477A>T (p.Lys2493Ter) c.7456A>T (p.Lys2486Ter) c.7111A>T (p.Lys2371Ter) c.3457A>T (p.Lys1153Ter) c.7351A>T (p.Lys2451Ter) c.7342A>T (p.Lys2448Ter) c.7357A>T (p.Lys2453Ter) c.1654A>T (p.Lys552Ter) | |
| X | g.31774022T>C | CA412658843 | DMD | c.2326A>G (p.Lys776Glu) c.100A>G (p.Lys34Glu) n.1141A>G n.1063A>G n.972A>G c.7480A>G (p.Lys2494Glu) c.3448A>G (p.Lys1150Glu) c.469A>G (p.Lys157Glu) c.568A>G (p.Lys190Glu) c.7468A>G (p.Lys2490Glu) c.237A>G (n.237A>G) c.7465A>G (p.Lys2489Glu) c.7477A>G (p.Lys2493Glu) c.7456A>G (p.Lys2486Glu) c.7111A>G (p.Lys2371Glu) c.3457A>G (p.Lys1153Glu) c.7351A>G (p.Lys2451Glu) c.7342A>G (p.Lys2448Glu) c.7357A>G (p.Lys2453Glu) c.1654A>G (p.Lys552Glu) | |
| X | g.31774022T>G | CA412658844 | DMD | c.2326A>C (p.Lys776Gln) c.100A>C (p.Lys34Gln) n.1141A>C n.1063A>C n.972A>C c.7480A>C (p.Lys2494Gln) c.3448A>C (p.Lys1150Gln) c.469A>C (p.Lys157Gln) c.568A>C (p.Lys190Gln) c.7468A>C (p.Lys2490Gln) c.237A>C (n.237A>C) c.7465A>C (p.Lys2489Gln) c.7477A>C (p.Lys2493Gln) c.7456A>C (p.Lys2486Gln) c.7111A>C (p.Lys2371Gln) c.3457A>C (p.Lys1153Gln) c.7351A>C (p.Lys2451Gln) c.7342A>C (p.Lys2448Gln) c.7357A>C (p.Lys2453Gln) c.1654A>C (p.Lys552Gln) | |
| X | g.31774023T>A | CA515859320 | DMD | c.2325A>T (p.Ile775=) c.99A>T (p.Ile33=) n.1140A>T n.1062A>T n.971A>T c.7479A>T (p.Ile2493=) c.3447A>T (p.Ile1149=) c.468A>T (p.Ile156=) c.567A>T (p.Ile189=) c.7467A>T (p.Ile2489=) c.236A>T (n.236A>T) c.7464A>T (p.Ile2488=) c.7476A>T (p.Ile2492=) c.7455A>T (p.Ile2485=) c.7110A>T (p.Ile2370=) c.3456A>T (p.Ile1152=) c.7350A>T (p.Ile2450=) c.7341A>T (p.Ile2447=) c.7356A>T (p.Ile2452=) c.1653A>T (p.Ile551=) | |
| X | g.31774023T>C | CA412658845 | DMD | c.2325A>G (p.Ile775Met) c.99A>G (p.Ile33Met) n.1140A>G n.1062A>G n.971A>G c.7479A>G (p.Ile2493Met) c.3447A>G (p.Ile1149Met) c.468A>G (p.Ile156Met) c.567A>G (p.Ile189Met) c.7467A>G (p.Ile2489Met) c.236A>G (n.236A>G) c.7464A>G (p.Ile2488Met) c.7476A>G (p.Ile2492Met) c.7455A>G (p.Ile2485Met) c.7110A>G (p.Ile2370Met) c.3456A>G (p.Ile1152Met) c.7350A>G (p.Ile2450Met) c.7341A>G (p.Ile2447Met) c.7356A>G (p.Ile2452Met) c.1653A>G (p.Ile551Met) | |
| X | g.31774023T>G | CA515859319 | DMD | c.2325A>C (p.Ile775=) c.99A>C (p.Ile33=) n.1140A>C n.1062A>C n.971A>C c.7479A>C (p.Ile2493=) c.3447A>C (p.Ile1149=) c.468A>C (p.Ile156=) c.567A>C (p.Ile189=) c.7467A>C (p.Ile2489=) c.236A>C (n.236A>C) c.7464A>C (p.Ile2488=) c.7476A>C (p.Ile2492=) c.7455A>C (p.Ile2485=) c.7110A>C (p.Ile2370=) c.3456A>C (p.Ile1152=) c.7350A>C (p.Ile2450=) c.7341A>C (p.Ile2447=) c.7356A>C (p.Ile2452=) c.1653A>C (p.Ile551=) | |
| X | g.31774024A= | CA2422548627 | DMD | c.2324T= (p.Ile775=) c.98T= (p.Ile33=) n.1139T= n.1061T= n.970T= c.7478T= (p.Ile2493=) c.3446T= (p.Ile1149=) c.467T= (p.Ile156=) c.566T= (p.Ile189=) c.7466T= (p.Ile2489=) c.235T= (n.235T=) c.7463T= (p.Ile2488=) c.7475T= (p.Ile2492=) c.7454T= (p.Ile2485=) c.7109T= (p.Ile2370=) c.3455T= (p.Ile1152=) c.7349T= (p.Ile2450=) c.7340T= (p.Ile2447=) c.7355T= (p.Ile2452=) c.1652T= (p.Ile551=) | |
| X | g.31774024A>C | CA412658846 | DMD | c.2324T>G (p.Ile775Arg) c.98T>G (p.Ile33Arg) n.1139T>G n.1061T>G n.970T>G c.7478T>G (p.Ile2493Arg) c.3446T>G (p.Ile1149Arg) c.467T>G (p.Ile156Arg) c.566T>G (p.Ile189Arg) c.7466T>G (p.Ile2489Arg) c.235T>G (n.235T>G) c.7463T>G (p.Ile2488Arg) c.7475T>G (p.Ile2492Arg) c.7454T>G (p.Ile2485Arg) c.7109T>G (p.Ile2370Arg) c.3455T>G (p.Ile1152Arg) c.7349T>G (p.Ile2450Arg) c.7340T>G (p.Ile2447Arg) c.7355T>G (p.Ile2452Arg) c.1652T>G (p.Ile551Arg) | |
| X | g.31774024A>G | CA412658848 | DMD | c.2324T>C (p.Ile775Thr) c.98T>C (p.Ile33Thr) n.1139T>C n.1061T>C n.970T>C c.7478T>C (p.Ile2493Thr) c.3446T>C (p.Ile1149Thr) c.467T>C (p.Ile156Thr) c.566T>C (p.Ile189Thr) c.7466T>C (p.Ile2489Thr) c.235T>C (n.235T>C) c.7463T>C (p.Ile2488Thr) c.7475T>C (p.Ile2492Thr) c.7454T>C (p.Ile2485Thr) c.7109T>C (p.Ile2370Thr) c.3455T>C (p.Ile1152Thr) c.7349T>C (p.Ile2450Thr) c.7340T>C (p.Ile2447Thr) c.7355T>C (p.Ile2452Thr) c.1652T>C (p.Ile551Thr) | dbSNP |
| X | g.31774024A>T | CA412658847 | DMD | c.2324T>A (p.Ile775Lys) c.98T>A (p.Ile33Lys) n.1139T>A n.1061T>A n.970T>A c.7478T>A (p.Ile2493Lys) c.3446T>A (p.Ile1149Lys) c.467T>A (p.Ile156Lys) c.566T>A (p.Ile189Lys) c.7466T>A (p.Ile2489Lys) c.235T>A (n.235T>A) c.7463T>A (p.Ile2488Lys) c.7475T>A (p.Ile2492Lys) c.7454T>A (p.Ile2485Lys) c.7109T>A (p.Ile2370Lys) c.3455T>A (p.Ile1152Lys) c.7349T>A (p.Ile2450Lys) c.7340T>A (p.Ile2447Lys) c.7355T>A (p.Ile2452Lys) c.1652T>A (p.Ile551Lys) | |
| X | g.31774025T>A | CA412658849 | DMD | c.2323A>T (p.Ile775Leu) c.97A>T (p.Ile33Leu) n.1138A>T n.1060A>T n.969A>T c.7477A>T (p.Ile2493Leu) c.3445A>T (p.Ile1149Leu) c.466A>T (p.Ile156Leu) c.565A>T (p.Ile189Leu) c.7465A>T (p.Ile2489Leu) c.234A>T (n.234A>T) c.7462A>T (p.Ile2488Leu) c.7474A>T (p.Ile2492Leu) c.7453A>T (p.Ile2485Leu) c.7108A>T (p.Ile2370Leu) c.3454A>T (p.Ile1152Leu) c.7348A>T (p.Ile2450Leu) c.7339A>T (p.Ile2447Leu) c.7354A>T (p.Ile2452Leu) c.1651A>T (p.Ile551Leu) | |
| X | g.31774025T>C | CA412658850 | DMD | c.2323A>G (p.Ile775Val) c.97A>G (p.Ile33Val) n.1138A>G n.1060A>G n.969A>G c.7477A>G (p.Ile2493Val) c.3445A>G (p.Ile1149Val) c.466A>G (p.Ile156Val) c.565A>G (p.Ile189Val) c.7465A>G (p.Ile2489Val) c.234A>G (n.234A>G) c.7462A>G (p.Ile2488Val) c.7474A>G (p.Ile2492Val) c.7453A>G (p.Ile2485Val) c.7108A>G (p.Ile2370Val) c.3454A>G (p.Ile1152Val) c.7348A>G (p.Ile2450Val) c.7339A>G (p.Ile2447Val) c.7354A>G (p.Ile2452Val) c.1651A>G (p.Ile551Val) | |
| X | g.31774025T>G | CA412658851 | DMD | c.2323A>C (p.Ile775Leu) c.97A>C (p.Ile33Leu) n.1138A>C n.1060A>C n.969A>C c.7477A>C (p.Ile2493Leu) c.3445A>C (p.Ile1149Leu) c.466A>C (p.Ile156Leu) c.565A>C (p.Ile189Leu) c.7465A>C (p.Ile2489Leu) c.234A>C (n.234A>C) c.7462A>C (p.Ile2488Leu) c.7474A>C (p.Ile2492Leu) c.7453A>C (p.Ile2485Leu) c.7108A>C (p.Ile2370Leu) c.3454A>C (p.Ile1152Leu) c.7348A>C (p.Ile2450Leu) c.7339A>C (p.Ile2447Leu) c.7354A>C (p.Ile2452Leu) c.1651A>C (p.Ile551Leu) | |
| X | g.31774026_31774029dup | CA2580616928 | DMD | c.2320_2323dup (p.Ile775SerfsTer11) c.94_97dup (p.Ile33SerfsTer11) n.1135_1138dup n.1057_1060dup n.966_969dup c.7474_7477dup (p.Ile2493SerfsTer11) c.3442_3445dup (p.Ile1149SerfsTer11) c.463_466dup (p.Ile156SerfsTer11) c.562_565dup (p.Ile189SerfsTer11) c.7462_7465dup (p.Ile2489SerfsTer11) c.231_234dup (n.231_234dup) c.7459_7462dup (p.Ile2488SerfsTer11) c.7471_7474dup (p.Ile2492SerfsTer11) c.7450_7453dup (p.Ile2485SerfsTer11) c.7105_7108dup (p.Ile2370SerfsTer11) c.3451_3454dup (p.Ile1152SerfsTer11) c.7345_7348dup (p.Ile2450SerfsTer11) c.7336_7339dup (p.Ile2447SerfsTer11) c.7351_7354dup (p.Ile2452SerfsTer11) c.1648_1651dup (p.Ile551SerfsTer11) | ClinVar |
| X | g.31774026A= | CA2422548628 | DMD | c.2322T= (p.Val774=) c.96T= (p.Val32=) n.1137T= n.1059T= n.968T= c.7476T= (p.Val2492=) c.3444T= (p.Val1148=) c.465T= (p.Val155=) c.564T= (p.Val188=) c.7464T= (p.Val2488=) c.233T= (n.233T=) c.7461T= (p.Val2487=) c.7473T= (p.Val2491=) c.7452T= (p.Val2484=) c.7107T= (p.Val2369=) c.3453T= (p.Val1151=) c.7347T= (p.Val2449=) c.7338T= (p.Val2446=) c.7353T= (p.Val2451=) c.1650T= (p.Val550=) | |
| X | g.31774026A>C | CA515859322 | DMD | c.2322T>G (p.Val774=) c.96T>G (p.Val32=) n.1137T>G n.1059T>G n.968T>G c.7476T>G (p.Val2492=) c.3444T>G (p.Val1148=) c.465T>G (p.Val155=) c.564T>G (p.Val188=) c.7464T>G (p.Val2488=) c.233T>G (n.233T>G) c.7461T>G (p.Val2487=) c.7473T>G (p.Val2491=) c.7452T>G (p.Val2484=) c.7107T>G (p.Val2369=) c.3453T>G (p.Val1151=) c.7347T>G (p.Val2449=) c.7338T>G (p.Val2446=) c.7353T>G (p.Val2451=) c.1650T>G (p.Val550=) | |
| X | g.31774026A>G | CA285601 | DMD | c.2322T>C (p.Val774=) c.96T>C (p.Val32=) n.1137T>C n.1059T>C n.968T>C c.7476T>C (p.Val2492=) c.3444T>C (p.Val1148=) c.465T>C (p.Val155=) c.564T>C (p.Val188=) c.7464T>C (p.Val2488=) c.233T>C (n.233T>C) c.7461T>C (p.Val2487=) c.7473T>C (p.Val2491=) c.7452T>C (p.Val2484=) c.7107T>C (p.Val2369=) c.3453T>C (p.Val1151=) c.7347T>C (p.Val2449=) c.7338T>C (p.Val2446=) c.7353T>C (p.Val2451=) c.1650T>C (p.Val550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31774026A>T | CA515859321 | DMD | c.2322T>A (p.Val774=) c.96T>A (p.Val32=) n.1137T>A n.1059T>A n.968T>A c.7476T>A (p.Val2492=) c.3444T>A (p.Val1148=) c.465T>A (p.Val155=) c.564T>A (p.Val188=) c.7464T>A (p.Val2488=) c.233T>A (n.233T>A) c.7461T>A (p.Val2487=) c.7473T>A (p.Val2491=) c.7452T>A (p.Val2484=) c.7107T>A (p.Val2369=) c.3453T>A (p.Val1151=) c.7347T>A (p.Val2449=) c.7338T>A (p.Val2446=) c.7353T>A (p.Val2451=) c.1650T>A (p.Val550=) | |
| X | g.31774027del | CA2695232437 | DMD | c.2322del (p.Ile775Ter) c.96del (p.Ile33Ter) n.1137del n.1059del n.968del c.7476del (p.Ile2493Ter) c.3444del (p.Ile1149Ter) c.465del (p.Ile156Ter) c.564del (p.Ile189Ter) c.7464del (p.Ile2489Ter) c.233del (n.233del) c.7461del (p.Ile2488Ter) c.7473del (p.Ile2492Ter) c.7452del (p.Ile2485Ter) c.7107del (p.Ile2370Ter) c.3453del (p.Ile1152Ter) c.7347del (p.Ile2450Ter) c.7338del (p.Ile2447Ter) c.7353del (p.Ile2452Ter) c.1650del (p.Ile551Ter) | |
| X | g.31774027A>C | CA412658852 | DMD | c.2321T>G (p.Val774Gly) c.95T>G (p.Val32Gly) n.1136T>G n.1058T>G n.967T>G c.7475T>G (p.Val2492Gly) c.3443T>G (p.Val1148Gly) c.464T>G (p.Val155Gly) c.563T>G (p.Val188Gly) c.7463T>G (p.Val2488Gly) c.232T>G (n.232T>G) c.7460T>G (p.Val2487Gly) c.7472T>G (p.Val2491Gly) c.7451T>G (p.Val2484Gly) c.7106T>G (p.Val2369Gly) c.3452T>G (p.Val1151Gly) c.7346T>G (p.Val2449Gly) c.7337T>G (p.Val2446Gly) c.7352T>G (p.Val2451Gly) c.1649T>G (p.Val550Gly) | |
| X | g.31774027A>G | CA412658854 | DMD | c.2321T>C (p.Val774Ala) c.95T>C (p.Val32Ala) n.1136T>C n.1058T>C n.967T>C c.7475T>C (p.Val2492Ala) c.3443T>C (p.Val1148Ala) c.464T>C (p.Val155Ala) c.563T>C (p.Val188Ala) c.7463T>C (p.Val2488Ala) c.232T>C (n.232T>C) c.7460T>C (p.Val2487Ala) c.7472T>C (p.Val2491Ala) c.7451T>C (p.Val2484Ala) c.7106T>C (p.Val2369Ala) c.3452T>C (p.Val1151Ala) c.7346T>C (p.Val2449Ala) c.7337T>C (p.Val2446Ala) c.7352T>C (p.Val2451Ala) c.1649T>C (p.Val550Ala) | |
| X | g.31774027A>T | CA412658853 | DMD | c.2321T>A (p.Val774Asp) c.95T>A (p.Val32Asp) n.1136T>A n.1058T>A n.967T>A c.7475T>A (p.Val2492Asp) c.3443T>A (p.Val1148Asp) c.464T>A (p.Val155Asp) c.563T>A (p.Val188Asp) c.7463T>A (p.Val2488Asp) c.232T>A (n.232T>A) c.7460T>A (p.Val2487Asp) c.7472T>A (p.Val2491Asp) c.7451T>A (p.Val2484Asp) c.7106T>A (p.Val2369Asp) c.3452T>A (p.Val1151Asp) c.7346T>A (p.Val2449Asp) c.7337T>A (p.Val2446Asp) c.7352T>A (p.Val2451Asp) c.1649T>A (p.Val550Asp) | |
| X | g.31774028C>A | CA412658855 | DMD | c.2320G>T (p.Val774Phe) c.94G>T (p.Val32Phe) n.1135G>T n.1057G>T n.966G>T c.7474G>T (p.Val2492Phe) c.3442G>T (p.Val1148Phe) c.463G>T (p.Val155Phe) c.562G>T (p.Val188Phe) c.7462G>T (p.Val2488Phe) c.231G>T (n.231G>T) c.7459G>T (p.Val2487Phe) c.7471G>T (p.Val2491Phe) c.7450G>T (p.Val2484Phe) c.7105G>T (p.Val2369Phe) c.3451G>T (p.Val1151Phe) c.7345G>T (p.Val2449Phe) c.7336G>T (p.Val2446Phe) c.7351G>T (p.Val2451Phe) c.1648G>T (p.Val550Phe) | |
| X | g.31774028C>G | CA412658856 | DMD | c.2320G>C (p.Val774Leu) c.94G>C (p.Val32Leu) n.1135G>C n.1057G>C n.966G>C c.7474G>C (p.Val2492Leu) c.3442G>C (p.Val1148Leu) c.463G>C (p.Val155Leu) c.562G>C (p.Val188Leu) c.7462G>C (p.Val2488Leu) c.231G>C (n.231G>C) c.7459G>C (p.Val2487Leu) c.7471G>C (p.Val2491Leu) c.7450G>C (p.Val2484Leu) c.7105G>C (p.Val2369Leu) c.3451G>C (p.Val1151Leu) c.7345G>C (p.Val2449Leu) c.7336G>C (p.Val2446Leu) c.7351G>C (p.Val2451Leu) c.1648G>C (p.Val550Leu) | |
| X | g.31774028C>T | CA412658857 | DMD | c.2320G>A (p.Val774Ile) c.94G>A (p.Val32Ile) n.1135G>A n.1057G>A n.966G>A c.7474G>A (p.Val2492Ile) c.3442G>A (p.Val1148Ile) c.463G>A (p.Val155Ile) c.562G>A (p.Val188Ile) c.7462G>A (p.Val2488Ile) c.231G>A (n.231G>A) c.7459G>A (p.Val2487Ile) c.7471G>A (p.Val2491Ile) c.7450G>A (p.Val2484Ile) c.7105G>A (p.Val2369Ile) c.3451G>A (p.Val1151Ile) c.7345G>A (p.Val2449Ile) c.7336G>A (p.Val2446Ile) c.7351G>A (p.Val2451Ile) c.1648G>A (p.Val550Ile) | |
| X | g.31774029T>A | CA412658858 | DMD | c.2319A>T (p.Gln773His) c.93A>T (p.Gln31His) n.1134A>T n.1056A>T n.965A>T c.7473A>T (p.Gln2491His) c.3441A>T (p.Gln1147His) c.462A>T (p.Gln154His) c.561A>T (p.Gln187His) c.7461A>T (p.Gln2487His) c.230A>T (n.230A>T) c.7458A>T (p.Gln2486His) c.7470A>T (p.Gln2490His) c.7449A>T (p.Gln2483His) c.7104A>T (p.Gln2368His) c.3450A>T (p.Gln1150His) c.7344A>T (p.Gln2448His) c.7335A>T (p.Gln2445His) c.7350A>T (p.Gln2450His) c.1647A>T (p.Gln549His) | |
| X | g.31774029T>C | CA515859323 | DMD | c.2319A>G (p.Gln773=) c.93A>G (p.Gln31=) n.1134A>G n.1056A>G n.965A>G c.7473A>G (p.Gln2491=) c.3441A>G (p.Gln1147=) c.462A>G (p.Gln154=) c.561A>G (p.Gln187=) c.7461A>G (p.Gln2487=) c.230A>G (n.230A>G) c.7458A>G (p.Gln2486=) c.7470A>G (p.Gln2490=) c.7449A>G (p.Gln2483=) c.7104A>G (p.Gln2368=) c.3450A>G (p.Gln1150=) c.7344A>G (p.Gln2448=) c.7335A>G (p.Gln2445=) c.7350A>G (p.Gln2450=) c.1647A>G (p.Gln549=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31774029T>G | CA412658859 | DMD | c.2319A>C (p.Gln773His) c.93A>C (p.Gln31His) n.1134A>C n.1056A>C n.965A>C c.7473A>C (p.Gln2491His) c.3441A>C (p.Gln1147His) c.462A>C (p.Gln154His) c.561A>C (p.Gln187His) c.7461A>C (p.Gln2487His) c.230A>C (n.230A>C) c.7458A>C (p.Gln2486His) c.7470A>C (p.Gln2490His) c.7449A>C (p.Gln2483His) c.7104A>C (p.Gln2368His) c.3450A>C (p.Gln1150His) c.7344A>C (p.Gln2448His) c.7335A>C (p.Gln2445His) c.7350A>C (p.Gln2450His) c.1647A>C (p.Gln549His) | |
| X | g.31774029T= | CA2422548629 | DMD | c.2319A= (p.Gln773=) c.93A= (p.Gln31=) n.1134A= n.1056A= n.965A= c.7473A= (p.Gln2491=) c.3441A= (p.Gln1147=) c.462A= (p.Gln154=) c.561A= (p.Gln187=) c.7461A= (p.Gln2487=) c.230A= (n.230A=) c.7458A= (p.Gln2486=) c.7470A= (p.Gln2490=) c.7449A= (p.Gln2483=) c.7104A= (p.Gln2368=) c.3450A= (p.Gln1150=) c.7344A= (p.Gln2448=) c.7335A= (p.Gln2445=) c.7350A= (p.Gln2450=) c.1647A= (p.Gln549=) | |
| X | g.31774030T>A | CA412658860 | DMD | c.2318A>T (p.Gln773Leu) c.92A>T (p.Gln31Leu) n.1133A>T n.1055A>T n.964A>T c.7472A>T (p.Gln2491Leu) c.3440A>T (p.Gln1147Leu) c.461A>T (p.Gln154Leu) c.560A>T (p.Gln187Leu) c.7460A>T (p.Gln2487Leu) c.229A>T (n.229A>T) c.7457A>T (p.Gln2486Leu) c.7469A>T (p.Gln2490Leu) c.7448A>T (p.Gln2483Leu) c.7103A>T (p.Gln2368Leu) c.3449A>T (p.Gln1150Leu) c.7343A>T (p.Gln2448Leu) c.7334A>T (p.Gln2445Leu) c.7349A>T (p.Gln2450Leu) c.1646A>T (p.Gln549Leu) | |
| X | g.31774030T>C | CA308331 | DMD | c.2318A>G (p.Gln773Arg) c.92A>G (p.Gln31Arg) n.1133A>G n.1055A>G n.964A>G c.7472A>G (p.Gln2491Arg) c.3440A>G (p.Gln1147Arg) c.461A>G (p.Gln154Arg) c.560A>G (p.Gln187Arg) c.7460A>G (p.Gln2487Arg) c.229A>G (n.229A>G) c.7457A>G (p.Gln2486Arg) c.7469A>G (p.Gln2490Arg) c.7448A>G (p.Gln2483Arg) c.7103A>G (p.Gln2368Arg) c.3449A>G (p.Gln1150Arg) c.7343A>G (p.Gln2448Arg) c.7334A>G (p.Gln2445Arg) c.7349A>G (p.Gln2450Arg) c.1646A>G (p.Gln549Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31774030T>G | CA412658861 | DMD | c.2318A>C (p.Gln773Pro) c.92A>C (p.Gln31Pro) n.1133A>C n.1055A>C n.964A>C c.7472A>C (p.Gln2491Pro) c.3440A>C (p.Gln1147Pro) c.461A>C (p.Gln154Pro) c.560A>C (p.Gln187Pro) c.7460A>C (p.Gln2487Pro) c.229A>C (n.229A>C) c.7457A>C (p.Gln2486Pro) c.7469A>C (p.Gln2490Pro) c.7448A>C (p.Gln2483Pro) c.7103A>C (p.Gln2368Pro) c.3449A>C (p.Gln1150Pro) c.7343A>C (p.Gln2448Pro) c.7334A>C (p.Gln2445Pro) c.7349A>C (p.Gln2450Pro) c.1646A>C (p.Gln549Pro) | |
| X | g.31774030T= | CA2422548630 | DMD | c.2318A= (p.Gln773=) c.92A= (p.Gln31=) n.1133A= n.1055A= n.964A= c.7472A= (p.Gln2491=) c.3440A= (p.Gln1147=) c.461A= (p.Gln154=) c.560A= (p.Gln187=) c.7460A= (p.Gln2487=) c.229A= (n.229A=) c.7457A= (p.Gln2486=) c.7469A= (p.Gln2490=) c.7448A= (p.Gln2483=) c.7103A= (p.Gln2368=) c.3449A= (p.Gln1150=) c.7343A= (p.Gln2448=) c.7334A= (p.Gln2445=) c.7349A= (p.Gln2450=) c.1646A= (p.Gln549=) | |
| X | g.31774031del | CA2697552931 | DMD | c.2317del (p.Gln773LysfsTer3) c.91del (p.Gln31LysfsTer3) n.1132del n.1054del n.963del c.7471del (p.Gln2491LysfsTer3) c.3439del (p.Gln1147LysfsTer3) c.460del (p.Gln154LysfsTer3) c.559del (p.Gln187LysfsTer3) c.7459del (p.Gln2487LysfsTer3) c.228del (n.228del) c.7456del (p.Gln2486LysfsTer3) c.7468del (p.Gln2490LysfsTer3) c.7447del (p.Gln2483LysfsTer3) c.7102del (p.Gln2368LysfsTer3) c.3448del (p.Gln1150LysfsTer3) c.7342del (p.Gln2448LysfsTer3) c.7333del (p.Gln2445LysfsTer3) c.7348del (p.Gln2450LysfsTer3) c.1645del (p.Gln549LysfsTer3) | ClinVar |
| X | g.31774031G>A | CA412658862 | DMD | c.2317C>T (p.Gln773Ter) c.91C>T (p.Gln31Ter) n.1132C>T n.1054C>T n.963C>T c.7471C>T (p.Gln2491Ter) c.3439C>T (p.Gln1147Ter) c.460C>T (p.Gln154Ter) c.559C>T (p.Gln187Ter) c.7459C>T (p.Gln2487Ter) c.228C>T (n.228C>T) c.7456C>T (p.Gln2486Ter) c.7468C>T (p.Gln2490Ter) c.7447C>T (p.Gln2483Ter) c.7102C>T (p.Gln2368Ter) c.3448C>T (p.Gln1150Ter) c.7342C>T (p.Gln2448Ter) c.7333C>T (p.Gln2445Ter) c.7348C>T (p.Gln2450Ter) c.1645C>T (p.Gln549Ter) | ClinVar dbSNP |
| X | g.31774031G>C | CA412658863 | DMD | c.2317C>G (p.Gln773Glu) c.91C>G (p.Gln31Glu) n.1132C>G n.1054C>G n.963C>G c.7471C>G (p.Gln2491Glu) c.3439C>G (p.Gln1147Glu) c.460C>G (p.Gln154Glu) c.559C>G (p.Gln187Glu) c.7459C>G (p.Gln2487Glu) c.228C>G (n.228C>G) c.7456C>G (p.Gln2486Glu) c.7468C>G (p.Gln2490Glu) c.7447C>G (p.Gln2483Glu) c.7102C>G (p.Gln2368Glu) c.3448C>G (p.Gln1150Glu) c.7342C>G (p.Gln2448Glu) c.7333C>G (p.Gln2445Glu) c.7348C>G (p.Gln2450Glu) c.1645C>G (p.Gln549Glu) | |
| X | g.31774031G>T | CA412658864 | DMD | c.2317C>A (p.Gln773Lys) c.91C>A (p.Gln31Lys) n.1132C>A n.1054C>A n.963C>A c.7471C>A (p.Gln2491Lys) c.3439C>A (p.Gln1147Lys) c.460C>A (p.Gln154Lys) c.559C>A (p.Gln187Lys) c.7459C>A (p.Gln2487Lys) c.228C>A (n.228C>A) c.7456C>A (p.Gln2486Lys) c.7468C>A (p.Gln2490Lys) c.7447C>A (p.Gln2483Lys) c.7102C>A (p.Gln2368Lys) c.3448C>A (p.Gln1150Lys) c.7342C>A (p.Gln2448Lys) c.7333C>A (p.Gln2445Lys) c.7348C>A (p.Gln2450Lys) c.1645C>A (p.Gln549Lys) | |
| X | g.31774032A>C | CA412658865 | DMD | c.2316T>G (p.Asp772Glu) c.90T>G (p.Asp30Glu) n.1131T>G n.1053T>G n.962T>G c.7470T>G (p.Asp2490Glu) c.3438T>G (p.Asp1146Glu) c.459T>G (p.Asp153Glu) c.558T>G (p.Asp186Glu) c.7458T>G (p.Asp2486Glu) c.227T>G (n.227T>G) c.7455T>G (p.Asp2485Glu) c.7467T>G (p.Asp2489Glu) c.7446T>G (p.Asp2482Glu) c.7101T>G (p.Asp2367Glu) c.3447T>G (p.Asp1149Glu) c.7341T>G (p.Asp2447Glu) c.7332T>G (p.Asp2444Glu) c.7347T>G (p.Asp2449Glu) c.1644T>G (p.Asp548Glu) | |
| X | g.31774032A>G | CA515859324 | DMD | c.2316T>C (p.Asp772=) c.90T>C (p.Asp30=) n.1131T>C n.1053T>C n.962T>C c.7470T>C (p.Asp2490=) c.3438T>C (p.Asp1146=) c.459T>C (p.Asp153=) c.558T>C (p.Asp186=) c.7458T>C (p.Asp2486=) c.227T>C (n.227T>C) c.7455T>C (p.Asp2485=) c.7467T>C (p.Asp2489=) c.7446T>C (p.Asp2482=) c.7101T>C (p.Asp2367=) c.3447T>C (p.Asp1149=) c.7341T>C (p.Asp2447=) c.7332T>C (p.Asp2444=) c.7347T>C (p.Asp2449=) c.1644T>C (p.Asp548=) | |
| X | g.31774032A>T | CA412658866 | DMD | c.2316T>A (p.Asp772Glu) c.90T>A (p.Asp30Glu) n.1131T>A n.1053T>A n.962T>A c.7470T>A (p.Asp2490Glu) c.3438T>A (p.Asp1146Glu) c.459T>A (p.Asp153Glu) c.558T>A (p.Asp186Glu) c.7458T>A (p.Asp2486Glu) c.227T>A (n.227T>A) c.7455T>A (p.Asp2485Glu) c.7467T>A (p.Asp2489Glu) c.7446T>A (p.Asp2482Glu) c.7101T>A (p.Asp2367Glu) c.3447T>A (p.Asp1149Glu) c.7341T>A (p.Asp2447Glu) c.7332T>A (p.Asp2444Glu) c.7347T>A (p.Asp2449Glu) c.1644T>A (p.Asp548Glu) | |
| X | g.31774032delinsTT | CA2695232439 | DMD | c.2316delinsAA (p.Asp772GlufsTer13) c.90delinsAA (p.Asp30GlufsTer13) n.1131delinsAA n.1053delinsAA n.962delinsAA c.7470delinsAA (p.Asp2490GlufsTer13) c.3438delinsAA (p.Asp1146GlufsTer13) c.459delinsAA (p.Asp153GlufsTer13) c.558delinsAA (p.Asp186GlufsTer13) c.7458delinsAA (p.Asp2486GlufsTer13) c.227delinsAA (n.227delinsAA) c.7455delinsAA (p.Asp2485GlufsTer13) c.7467delinsAA (p.Asp2489GlufsTer13) c.7446delinsAA (p.Asp2482GlufsTer13) c.7101delinsAA (p.Asp2367GlufsTer13) c.3447delinsAA (p.Asp1149GlufsTer13) c.7341delinsAA (p.Asp2447GlufsTer13) c.7332delinsAA (p.Asp2444GlufsTer13) c.7347delinsAA (p.Asp2449GlufsTer13) c.1644delinsAA (p.Asp548GlufsTer13) | |
| X | g.31774033T>A | CA328470491 | DMD | c.2315A>T (p.Asp772Val) c.89A>T (p.Asp30Val) n.1130A>T n.1052A>T n.961A>T c.7469A>T (p.Asp2490Val) c.3437A>T (p.Asp1146Val) c.458A>T (p.Asp153Val) c.557A>T (p.Asp186Val) c.7457A>T (p.Asp2486Val) c.226A>T (n.226A>T) c.7454A>T (p.Asp2485Val) c.7466A>T (p.Asp2489Val) c.7445A>T (p.Asp2482Val) c.7100A>T (p.Asp2367Val) c.3446A>T (p.Asp1149Val) c.7340A>T (p.Asp2447Val) c.7331A>T (p.Asp2444Val) c.7346A>T (p.Asp2449Val) c.1643A>T (p.Asp548Val) | dbSNP |
| X | g.31774033T>C | CA412658867 | DMD | c.2315A>G (p.Asp772Gly) c.89A>G (p.Asp30Gly) n.1130A>G n.1052A>G n.961A>G c.7469A>G (p.Asp2490Gly) c.3437A>G (p.Asp1146Gly) c.458A>G (p.Asp153Gly) c.557A>G (p.Asp186Gly) c.7457A>G (p.Asp2486Gly) c.226A>G (n.226A>G) c.7454A>G (p.Asp2485Gly) c.7466A>G (p.Asp2489Gly) c.7445A>G (p.Asp2482Gly) c.7100A>G (p.Asp2367Gly) c.3446A>G (p.Asp1149Gly) c.7340A>G (p.Asp2447Gly) c.7331A>G (p.Asp2444Gly) c.7346A>G (p.Asp2449Gly) c.1643A>G (p.Asp548Gly) | dbSNP |
| X | g.31774033T>G | CA412658868 | DMD | c.2315A>C (p.Asp772Ala) c.89A>C (p.Asp30Ala) n.1130A>C n.1052A>C n.961A>C c.7469A>C (p.Asp2490Ala) c.3437A>C (p.Asp1146Ala) c.458A>C (p.Asp153Ala) c.557A>C (p.Asp186Ala) c.7457A>C (p.Asp2486Ala) c.226A>C (n.226A>C) c.7454A>C (p.Asp2485Ala) c.7466A>C (p.Asp2489Ala) c.7445A>C (p.Asp2482Ala) c.7100A>C (p.Asp2367Ala) c.3446A>C (p.Asp1149Ala) c.7340A>C (p.Asp2447Ala) c.7331A>C (p.Asp2444Ala) c.7346A>C (p.Asp2449Ala) c.1643A>C (p.Asp548Ala) | |
| X | g.31774033T= | CA2422548631 | DMD | c.2315A= (p.Asp772=) c.89A= (p.Asp30=) n.1130A= n.1052A= n.961A= c.7469A= (p.Asp2490=) c.3437A= (p.Asp1146=) c.458A= (p.Asp153=) c.557A= (p.Asp186=) c.7457A= (p.Asp2486=) c.226A= (n.226A=) c.7454A= (p.Asp2485=) c.7466A= (p.Asp2489=) c.7445A= (p.Asp2482=) c.7100A= (p.Asp2367=) c.3446A= (p.Asp1149=) c.7340A= (p.Asp2447=) c.7331A= (p.Asp2444=) c.7346A= (p.Asp2449=) c.1643A= (p.Asp548=) | |
| X | g.31774034C>A | CA10378271 | DMD | c.2314G>T (p.Asp772Tyr) c.88G>T (p.Asp30Tyr) n.1129G>T n.1051G>T n.960G>T c.7468G>T (p.Asp2490Tyr) c.3436G>T (p.Asp1146Tyr) c.457G>T (p.Asp153Tyr) c.556G>T (p.Asp186Tyr) c.7456G>T (p.Asp2486Tyr) c.225G>T (n.225G>T) c.7453G>T (p.Asp2485Tyr) c.7465G>T (p.Asp2489Tyr) c.7444G>T (p.Asp2482Tyr) c.7099G>T (p.Asp2367Tyr) c.3445G>T (p.Asp1149Tyr) c.7339G>T (p.Asp2447Tyr) c.7330G>T (p.Asp2444Tyr) c.7345G>T (p.Asp2449Tyr) c.1642G>T (p.Asp548Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31774034C= | CA2422548632 | DMD | c.2314G= (p.Asp772=) c.88G= (p.Asp30=) n.1129G= n.1051G= n.960G= c.7468G= (p.Asp2490=) c.3436G= (p.Asp1146=) c.457G= (p.Asp153=) c.556G= (p.Asp186=) c.7456G= (p.Asp2486=) c.225G= (n.225G=) c.7453G= (p.Asp2485=) c.7465G= (p.Asp2489=) c.7444G= (p.Asp2482=) c.7099G= (p.Asp2367=) c.3445G= (p.Asp1149=) c.7339G= (p.Asp2447=) c.7330G= (p.Asp2444=) c.7345G= (p.Asp2449=) c.1642G= (p.Asp548=) | |
| X | g.31774034C>G | CA412658869 | DMD | c.2314G>C (p.Asp772His) c.88G>C (p.Asp30His) n.1129G>C n.1051G>C n.960G>C c.7468G>C (p.Asp2490His) c.3436G>C (p.Asp1146His) c.457G>C (p.Asp153His) c.556G>C (p.Asp186His) c.7456G>C (p.Asp2486His) c.225G>C (n.225G>C) c.7453G>C (p.Asp2485His) c.7465G>C (p.Asp2489His) c.7444G>C (p.Asp2482His) c.7099G>C (p.Asp2367His) c.3445G>C (p.Asp1149His) c.7339G>C (p.Asp2447His) c.7330G>C (p.Asp2444His) c.7345G>C (p.Asp2449His) c.1642G>C (p.Asp548His) | |
| X | g.31774034C>T | CA412658870 | DMD | c.2314G>A (p.Asp772Asn) c.88G>A (p.Asp30Asn) n.1129G>A n.1051G>A n.960G>A c.7468G>A (p.Asp2490Asn) c.3436G>A (p.Asp1146Asn) c.457G>A (p.Asp153Asn) c.556G>A (p.Asp186Asn) c.7456G>A (p.Asp2486Asn) c.225G>A (n.225G>A) c.7453G>A (p.Asp2485Asn) c.7465G>A (p.Asp2489Asn) c.7444G>A (p.Asp2482Asn) c.7099G>A (p.Asp2367Asn) c.3445G>A (p.Asp1149Asn) c.7339G>A (p.Asp2447Asn) c.7330G>A (p.Asp2444Asn) c.7345G>A (p.Asp2449Asn) c.1642G>A (p.Asp548Asn) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31774035A>C | CA515859325 | DMD | c.2313T>G (p.Leu771=) c.87T>G (p.Leu29=) n.1128T>G n.1050T>G n.959T>G c.7467T>G (p.Leu2489=) c.3435T>G (p.Leu1145=) c.456T>G (p.Leu152=) c.555T>G (p.Leu185=) c.7455T>G (p.Leu2485=) c.224T>G (n.224T>G) c.7452T>G (p.Leu2484=) c.7464T>G (p.Leu2488=) c.7443T>G (p.Leu2481=) c.7098T>G (p.Leu2366=) c.3444T>G (p.Leu1148=) c.7338T>G (p.Leu2446=) c.7329T>G (p.Leu2443=) c.7344T>G (p.Leu2448=) c.1641T>G (p.Leu547=) | ClinVar |
| X | g.31774035A>G | CA515859326 | DMD | c.2313T>C (p.Leu771=) c.87T>C (p.Leu29=) n.1128T>C n.1050T>C n.959T>C c.7467T>C (p.Leu2489=) c.3435T>C (p.Leu1145=) c.456T>C (p.Leu152=) c.555T>C (p.Leu185=) c.7455T>C (p.Leu2485=) c.224T>C (n.224T>C) c.7452T>C (p.Leu2484=) c.7464T>C (p.Leu2488=) c.7443T>C (p.Leu2481=) c.7098T>C (p.Leu2366=) c.3444T>C (p.Leu1148=) c.7338T>C (p.Leu2446=) c.7329T>C (p.Leu2443=) c.7344T>C (p.Leu2448=) c.1641T>C (p.Leu547=) | |
| X | g.31774035A>T | CA515859327 | DMD | c.2313T>A (p.Leu771=) c.87T>A (p.Leu29=) n.1128T>A n.1050T>A n.959T>A c.7467T>A (p.Leu2489=) c.3435T>A (p.Leu1145=) c.456T>A (p.Leu152=) c.555T>A (p.Leu185=) c.7455T>A (p.Leu2485=) c.224T>A (n.224T>A) c.7452T>A (p.Leu2484=) c.7464T>A (p.Leu2488=) c.7443T>A (p.Leu2481=) c.7098T>A (p.Leu2366=) c.3444T>A (p.Leu1148=) c.7338T>A (p.Leu2446=) c.7329T>A (p.Leu2443=) c.7344T>A (p.Leu2448=) c.1641T>A (p.Leu547=) | |
| X | g.31774036del | CA2695232441 | DMD | c.2313del (p.Asp772IlefsTer4) c.87del (p.Asp30IlefsTer4) n.1128del n.1050del n.959del c.7467del (p.Asp2490IlefsTer4) c.3435del (p.Asp1146IlefsTer4) c.456del (p.Asp153IlefsTer4) c.555del (p.Asp186IlefsTer4) c.7455del (p.Asp2486IlefsTer4) c.224del (n.224del) c.7452del (p.Asp2485IlefsTer4) c.7464del (p.Asp2489IlefsTer4) c.7443del (p.Asp2482IlefsTer4) c.7098del (p.Asp2367IlefsTer4) c.3444del (p.Asp1149IlefsTer4) c.7338del (p.Asp2447IlefsTer4) c.7329del (p.Asp2444IlefsTer4) c.7344del (p.Asp2449IlefsTer4) c.1641del (p.Asp548IlefsTer4) | |
| X | g.31774036A>C | CA412658871 | DMD | c.2312T>G (p.Leu771Arg) c.86T>G (p.Leu29Arg) n.1127T>G n.1049T>G n.958T>G c.7466T>G (p.Leu2489Arg) c.3434T>G (p.Leu1145Arg) c.455T>G (p.Leu152Arg) c.554T>G (p.Leu185Arg) c.7454T>G (p.Leu2485Arg) c.223T>G (n.223T>G) c.7451T>G (p.Leu2484Arg) c.7463T>G (p.Leu2488Arg) c.7442T>G (p.Leu2481Arg) c.7097T>G (p.Leu2366Arg) c.3443T>G (p.Leu1148Arg) c.7337T>G (p.Leu2446Arg) c.7328T>G (p.Leu2443Arg) c.7343T>G (p.Leu2448Arg) c.1640T>G (p.Leu547Arg) | |
| X | g.31774036A>G | CA412658872 | DMD | c.2312T>C (p.Leu771Pro) c.86T>C (p.Leu29Pro) n.1127T>C n.1049T>C n.958T>C c.7466T>C (p.Leu2489Pro) c.3434T>C (p.Leu1145Pro) c.455T>C (p.Leu152Pro) c.554T>C (p.Leu185Pro) c.7454T>C (p.Leu2485Pro) c.223T>C (n.223T>C) c.7451T>C (p.Leu2484Pro) c.7463T>C (p.Leu2488Pro) c.7442T>C (p.Leu2481Pro) c.7097T>C (p.Leu2366Pro) c.3443T>C (p.Leu1148Pro) c.7337T>C (p.Leu2446Pro) c.7328T>C (p.Leu2443Pro) c.7343T>C (p.Leu2448Pro) c.1640T>C (p.Leu547Pro) | |
| X | g.31774036A>T | CA412658873 | DMD | c.2312T>A (p.Leu771His) c.86T>A (p.Leu29His) n.1127T>A n.1049T>A n.958T>A c.7466T>A (p.Leu2489His) c.3434T>A (p.Leu1145His) c.455T>A (p.Leu152His) c.554T>A (p.Leu185His) c.7454T>A (p.Leu2485His) c.223T>A (n.223T>A) c.7451T>A (p.Leu2484His) c.7463T>A (p.Leu2488His) c.7442T>A (p.Leu2481His) c.7097T>A (p.Leu2366His) c.3443T>A (p.Leu1148His) c.7337T>A (p.Leu2446His) c.7328T>A (p.Leu2443His) c.7343T>A (p.Leu2448His) c.1640T>A (p.Leu547His) | |
| X | g.31774037G>A | CA412658874 | DMD | c.2311C>T (p.Leu771Phe) c.85C>T (p.Leu29Phe) n.1126C>T n.1048C>T n.957C>T c.7465C>T (p.Leu2489Phe) c.3433C>T (p.Leu1145Phe) c.454C>T (p.Leu152Phe) c.553C>T (p.Leu185Phe) c.7453C>T (p.Leu2485Phe) c.222C>T (n.222C>T) c.7450C>T (p.Leu2484Phe) c.7462C>T (p.Leu2488Phe) c.7441C>T (p.Leu2481Phe) c.7096C>T (p.Leu2366Phe) c.3442C>T (p.Leu1148Phe) c.7336C>T (p.Leu2446Phe) c.7327C>T (p.Leu2443Phe) c.7342C>T (p.Leu2448Phe) c.1639C>T (p.Leu547Phe) | |
| X | g.31774037G>C | CA412658875 | DMD | c.2311C>G (p.Leu771Val) c.85C>G (p.Leu29Val) n.1126C>G n.1048C>G n.957C>G c.7465C>G (p.Leu2489Val) c.3433C>G (p.Leu1145Val) c.454C>G (p.Leu152Val) c.553C>G (p.Leu185Val) c.7453C>G (p.Leu2485Val) c.222C>G (n.222C>G) c.7450C>G (p.Leu2484Val) c.7462C>G (p.Leu2488Val) c.7441C>G (p.Leu2481Val) c.7096C>G (p.Leu2366Val) c.3442C>G (p.Leu1148Val) c.7336C>G (p.Leu2446Val) c.7327C>G (p.Leu2443Val) c.7342C>G (p.Leu2448Val) c.1639C>G (p.Leu547Val) | |
| X | g.31774037G>T | CA412658876 | DMD | c.2311C>A (p.Leu771Ile) c.85C>A (p.Leu29Ile) n.1126C>A n.1048C>A n.957C>A c.7465C>A (p.Leu2489Ile) c.3433C>A (p.Leu1145Ile) c.454C>A (p.Leu152Ile) c.553C>A (p.Leu185Ile) c.7453C>A (p.Leu2485Ile) c.222C>A (n.222C>A) c.7450C>A (p.Leu2484Ile) c.7462C>A (p.Leu2488Ile) c.7441C>A (p.Leu2481Ile) c.7096C>A (p.Leu2366Ile) c.3442C>A (p.Leu1148Ile) c.7336C>A (p.Leu2446Ile) c.7327C>A (p.Leu2443Ile) c.7342C>A (p.Leu2448Ile) c.1639C>A (p.Leu547Ile) | |
| X | g.31774038C>A | CA515859328 | DMD | c.2310G>T (p.Leu770=) c.84G>T (p.Leu28=) n.1125G>T n.1047G>T n.956G>T c.7464G>T (p.Leu2488=) c.3432G>T (p.Leu1144=) c.453G>T (p.Leu151=) c.552G>T (p.Leu184=) c.7452G>T (p.Leu2484=) c.221G>T (n.221G>T) c.7449G>T (p.Leu2483=) c.7461G>T (p.Leu2487=) c.7440G>T (p.Leu2480=) c.7095G>T (p.Leu2365=) c.3441G>T (p.Leu1147=) c.7335G>T (p.Leu2445=) c.7326G>T (p.Leu2442=) c.7341G>T (p.Leu2447=) c.1638G>T (p.Leu546=) | |
| X | g.31774038C= | CA2422548633 | DMD | c.2310G= (p.Leu770=) c.84G= (p.Leu28=) n.1125G= n.1047G= n.956G= c.7464G= (p.Leu2488=) c.3432G= (p.Leu1144=) c.453G= (p.Leu151=) c.552G= (p.Leu184=) c.7452G= (p.Leu2484=) c.221G= (n.221G=) c.7449G= (p.Leu2483=) c.7461G= (p.Leu2487=) c.7440G= (p.Leu2480=) c.7095G= (p.Leu2365=) c.3441G= (p.Leu1147=) c.7335G= (p.Leu2445=) c.7326G= (p.Leu2442=) c.7341G= (p.Leu2447=) c.1638G= (p.Leu546=) | |
| X | g.31774038C>G | CA515859329 | DMD | c.2310G>C (p.Leu770=) c.84G>C (p.Leu28=) n.1125G>C n.1047G>C n.956G>C c.7464G>C (p.Leu2488=) c.3432G>C (p.Leu1144=) c.453G>C (p.Leu151=) c.552G>C (p.Leu184=) c.7452G>C (p.Leu2484=) c.221G>C (n.221G>C) c.7449G>C (p.Leu2483=) c.7461G>C (p.Leu2487=) c.7440G>C (p.Leu2480=) c.7095G>C (p.Leu2365=) c.3441G>C (p.Leu1147=) c.7335G>C (p.Leu2445=) c.7326G>C (p.Leu2442=) c.7341G>C (p.Leu2447=) c.1638G>C (p.Leu546=) | |
| X | g.31774038C>T | CA515859330 | DMD | c.2310G>A (p.Leu770=) c.84G>A (p.Leu28=) n.1125G>A n.1047G>A n.956G>A c.7464G>A (p.Leu2488=) c.3432G>A (p.Leu1144=) c.453G>A (p.Leu151=) c.552G>A (p.Leu184=) c.7452G>A (p.Leu2484=) c.221G>A (n.221G>A) c.7449G>A (p.Leu2483=) c.7461G>A (p.Leu2487=) c.7440G>A (p.Leu2480=) c.7095G>A (p.Leu2365=) c.3441G>A (p.Leu1147=) c.7335G>A (p.Leu2445=) c.7326G>A (p.Leu2442=) c.7341G>A (p.Leu2447=) c.1638G>A (p.Leu546=) | ClinVar dbSNP gnomAD v4 |
| X | g.31774039A>C | CA412658877 | DMD | c.2309T>G (p.Leu770Arg) c.83T>G (p.Leu28Arg) n.1124T>G n.1046T>G n.955T>G c.7463T>G (p.Leu2488Arg) c.3431T>G (p.Leu1144Arg) c.452T>G (p.Leu151Arg) c.551T>G (p.Leu184Arg) c.7451T>G (p.Leu2484Arg) c.220T>G (n.220T>G) c.7448T>G (p.Leu2483Arg) c.7460T>G (p.Leu2487Arg) c.7439T>G (p.Leu2480Arg) c.7094T>G (p.Leu2365Arg) c.3440T>G (p.Leu1147Arg) c.7334T>G (p.Leu2445Arg) c.7325T>G (p.Leu2442Arg) c.7340T>G (p.Leu2447Arg) c.1637T>G (p.Leu546Arg) | |
| X | g.31774039A>G | CA412658878 | DMD | c.2309T>C (p.Leu770Pro) c.83T>C (p.Leu28Pro) n.1124T>C n.1046T>C n.955T>C c.7463T>C (p.Leu2488Pro) c.3431T>C (p.Leu1144Pro) c.452T>C (p.Leu151Pro) c.551T>C (p.Leu184Pro) c.7451T>C (p.Leu2484Pro) c.220T>C (n.220T>C) c.7448T>C (p.Leu2483Pro) c.7460T>C (p.Leu2487Pro) c.7439T>C (p.Leu2480Pro) c.7094T>C (p.Leu2365Pro) c.3440T>C (p.Leu1147Pro) c.7334T>C (p.Leu2445Pro) c.7325T>C (p.Leu2442Pro) c.7340T>C (p.Leu2447Pro) c.1637T>C (p.Leu546Pro) | |
| X | g.31774039A>T | CA412658879 | DMD | c.2309T>A (p.Leu770Gln) c.83T>A (p.Leu28Gln) n.1124T>A n.1046T>A n.955T>A c.7463T>A (p.Leu2488Gln) c.3431T>A (p.Leu1144Gln) c.452T>A (p.Leu151Gln) c.551T>A (p.Leu184Gln) c.7451T>A (p.Leu2484Gln) c.220T>A (n.220T>A) c.7448T>A (p.Leu2483Gln) c.7460T>A (p.Leu2487Gln) c.7439T>A (p.Leu2480Gln) c.7094T>A (p.Leu2365Gln) c.3440T>A (p.Leu1147Gln) c.7334T>A (p.Leu2445Gln) c.7325T>A (p.Leu2442Gln) c.7340T>A (p.Leu2447Gln) c.1637T>A (p.Leu546Gln) | |
| X | g.31774040G>A | CA515859331 | DMD | c.2308C>T (p.Leu770=) c.82C>T (p.Leu28=) n.1123C>T n.1045C>T n.954C>T c.7462C>T (p.Leu2488=) c.3430C>T (p.Leu1144=) c.451C>T (p.Leu151=) c.550C>T (p.Leu184=) c.7450C>T (p.Leu2484=) c.219C>T (n.219C>T) c.7447C>T (p.Leu2483=) c.7459C>T (p.Leu2487=) c.7438C>T (p.Leu2480=) c.7093C>T (p.Leu2365=) c.3439C>T (p.Leu1147=) c.7333C>T (p.Leu2445=) c.7324C>T (p.Leu2442=) c.7339C>T (p.Leu2447=) c.1636C>T (p.Leu546=) | ClinVar dbSNP |
| X | g.31774040G>C | CA412658880 | DMD | c.2308C>G (p.Leu770Val) c.82C>G (p.Leu28Val) n.1123C>G n.1045C>G n.954C>G c.7462C>G (p.Leu2488Val) c.3430C>G (p.Leu1144Val) c.451C>G (p.Leu151Val) c.550C>G (p.Leu184Val) c.7450C>G (p.Leu2484Val) c.219C>G (n.219C>G) c.7447C>G (p.Leu2483Val) c.7459C>G (p.Leu2487Val) c.7438C>G (p.Leu2480Val) c.7093C>G (p.Leu2365Val) c.3439C>G (p.Leu1147Val) c.7333C>G (p.Leu2445Val) c.7324C>G (p.Leu2442Val) c.7339C>G (p.Leu2447Val) c.1636C>G (p.Leu546Val) | |
| X | g.31774040G>T | CA412658881 | DMD | c.2308C>A (p.Leu770Met) c.82C>A (p.Leu28Met) n.1123C>A n.1045C>A n.954C>A c.7462C>A (p.Leu2488Met) c.3430C>A (p.Leu1144Met) c.451C>A (p.Leu151Met) c.550C>A (p.Leu184Met) c.7450C>A (p.Leu2484Met) c.219C>A (n.219C>A) c.7447C>A (p.Leu2483Met) c.7459C>A (p.Leu2487Met) c.7438C>A (p.Leu2480Met) c.7093C>A (p.Leu2365Met) c.3439C>A (p.Leu1147Met) c.7333C>A (p.Leu2445Met) c.7324C>A (p.Leu2442Met) c.7339C>A (p.Leu2447Met) c.1636C>A (p.Leu546Met) | |
| X | g.31774041A>C | CA515859332 | DMD | c.2307T>G (p.Ser769=) c.81T>G (p.Ser27=) n.1122T>G n.1044T>G n.953T>G c.7461T>G (p.Ser2487=) c.3429T>G (p.Ser1143=) c.450T>G (p.Ser150=) c.549T>G (p.Ser183=) c.7449T>G (p.Ser2483=) c.218T>G (n.218T>G) c.7446T>G (p.Ser2482=) c.7458T>G (p.Ser2486=) c.7437T>G (p.Ser2479=) c.7092T>G (p.Ser2364=) c.3438T>G (p.Ser1146=) c.7332T>G (p.Ser2444=) c.7323T>G (p.Ser2441=) c.7338T>G (p.Ser2446=) c.1635T>G (p.Ser545=) | |
| X | g.31774041A>G | CA515859333 | DMD | c.2307T>C (p.Ser769=) c.81T>C (p.Ser27=) n.1122T>C n.1044T>C n.953T>C c.7461T>C (p.Ser2487=) c.3429T>C (p.Ser1143=) c.450T>C (p.Ser150=) c.549T>C (p.Ser183=) c.7449T>C (p.Ser2483=) c.218T>C (n.218T>C) c.7446T>C (p.Ser2482=) c.7458T>C (p.Ser2486=) c.7437T>C (p.Ser2479=) c.7092T>C (p.Ser2364=) c.3438T>C (p.Ser1146=) c.7332T>C (p.Ser2444=) c.7323T>C (p.Ser2441=) c.7338T>C (p.Ser2446=) c.1635T>C (p.Ser545=) | |
| X | g.31774041A>T | CA515859334 | DMD | c.2307T>A (p.Ser769=) c.81T>A (p.Ser27=) n.1122T>A n.1044T>A n.953T>A c.7461T>A (p.Ser2487=) c.3429T>A (p.Ser1143=) c.450T>A (p.Ser150=) c.549T>A (p.Ser183=) c.7449T>A (p.Ser2483=) c.218T>A (n.218T>A) c.7446T>A (p.Ser2482=) c.7458T>A (p.Ser2486=) c.7437T>A (p.Ser2479=) c.7092T>A (p.Ser2364=) c.3438T>A (p.Ser1146=) c.7332T>A (p.Ser2444=) c.7323T>A (p.Ser2441=) c.7338T>A (p.Ser2446=) c.1635T>A (p.Ser545=) | |
| X | g.31774042G>A | CA412658882 | DMD | c.2306C>T (p.Ser769Phe) c.80C>T (p.Ser27Phe) n.1121C>T n.1043C>T n.952C>T c.7460C>T (p.Ser2487Phe) c.3428C>T (p.Ser1143Phe) c.449C>T (p.Ser150Phe) c.548C>T (p.Ser183Phe) c.7448C>T (p.Ser2483Phe) c.217C>T (n.217C>T) c.7445C>T (p.Ser2482Phe) c.7457C>T (p.Ser2486Phe) c.7436C>T (p.Ser2479Phe) c.7091C>T (p.Ser2364Phe) c.3437C>T (p.Ser1146Phe) c.7331C>T (p.Ser2444Phe) c.7322C>T (p.Ser2441Phe) c.7337C>T (p.Ser2446Phe) c.1634C>T (p.Ser545Phe) | |
| X | g.31774042G>C | CA412658884 | DMD | c.2306C>G (p.Ser769Cys) c.80C>G (p.Ser27Cys) n.1121C>G n.1043C>G n.952C>G c.7460C>G (p.Ser2487Cys) c.3428C>G (p.Ser1143Cys) c.449C>G (p.Ser150Cys) c.548C>G (p.Ser183Cys) c.7448C>G (p.Ser2483Cys) c.217C>G (n.217C>G) c.7445C>G (p.Ser2482Cys) c.7457C>G (p.Ser2486Cys) c.7436C>G (p.Ser2479Cys) c.7091C>G (p.Ser2364Cys) c.3437C>G (p.Ser1146Cys) c.7331C>G (p.Ser2444Cys) c.7322C>G (p.Ser2441Cys) c.7337C>G (p.Ser2446Cys) c.1634C>G (p.Ser545Cys) | |
| X | g.31774042G>T | CA412658883 | DMD | c.2306C>A (p.Ser769Tyr) c.80C>A (p.Ser27Tyr) n.1121C>A n.1043C>A n.952C>A c.7460C>A (p.Ser2487Tyr) c.3428C>A (p.Ser1143Tyr) c.449C>A (p.Ser150Tyr) c.548C>A (p.Ser183Tyr) c.7448C>A (p.Ser2483Tyr) c.217C>A (n.217C>A) c.7445C>A (p.Ser2482Tyr) c.7457C>A (p.Ser2486Tyr) c.7436C>A (p.Ser2479Tyr) c.7091C>A (p.Ser2364Tyr) c.3437C>A (p.Ser1146Tyr) c.7331C>A (p.Ser2444Tyr) c.7322C>A (p.Ser2441Tyr) c.7337C>A (p.Ser2446Tyr) c.1634C>A (p.Ser545Tyr) | gnomAD v4 |
| X | g.31774043A>C | CA412658885 | DMD | c.2305T>G (p.Ser769Ala) c.79T>G (p.Ser27Ala) n.1120T>G n.1042T>G n.951T>G c.7459T>G (p.Ser2487Ala) c.3427T>G (p.Ser1143Ala) c.448T>G (p.Ser150Ala) c.547T>G (p.Ser183Ala) c.7447T>G (p.Ser2483Ala) c.216T>G (n.216T>G) c.7444T>G (p.Ser2482Ala) c.7456T>G (p.Ser2486Ala) c.7435T>G (p.Ser2479Ala) c.7090T>G (p.Ser2364Ala) c.3436T>G (p.Ser1146Ala) c.7330T>G (p.Ser2444Ala) c.7321T>G (p.Ser2441Ala) c.7336T>G (p.Ser2446Ala) c.1633T>G (p.Ser545Ala) | |
| X | g.31774043A>G | CA412658887 | DMD | c.2305T>C (p.Ser769Pro) c.79T>C (p.Ser27Pro) n.1120T>C n.1042T>C n.951T>C c.7459T>C (p.Ser2487Pro) c.3427T>C (p.Ser1143Pro) c.448T>C (p.Ser150Pro) c.547T>C (p.Ser183Pro) c.7447T>C (p.Ser2483Pro) c.216T>C (n.216T>C) c.7444T>C (p.Ser2482Pro) c.7456T>C (p.Ser2486Pro) c.7435T>C (p.Ser2479Pro) c.7090T>C (p.Ser2364Pro) c.3436T>C (p.Ser1146Pro) c.7330T>C (p.Ser2444Pro) c.7321T>C (p.Ser2441Pro) c.7336T>C (p.Ser2446Pro) c.1633T>C (p.Ser545Pro) | |
| X | g.31774043A>T | CA412658886 | DMD | c.2305T>A (p.Ser769Thr) c.79T>A (p.Ser27Thr) n.1120T>A n.1042T>A n.951T>A c.7459T>A (p.Ser2487Thr) c.3427T>A (p.Ser1143Thr) c.448T>A (p.Ser150Thr) c.547T>A (p.Ser183Thr) c.7447T>A (p.Ser2483Thr) c.216T>A (n.216T>A) c.7444T>A (p.Ser2482Thr) c.7456T>A (p.Ser2486Thr) c.7435T>A (p.Ser2479Thr) c.7090T>A (p.Ser2364Thr) c.3436T>A (p.Ser1146Thr) c.7330T>A (p.Ser2444Thr) c.7321T>A (p.Ser2441Thr) c.7336T>A (p.Ser2446Thr) c.1633T>A (p.Ser545Thr) | |
| X | g.31774044A>C | CA515859335 | DMD | c.2304T>G (p.Leu768=) c.78T>G (p.Leu26=) n.1119T>G n.1041T>G n.950T>G c.7458T>G (p.Leu2486=) c.3426T>G (p.Leu1142=) c.447T>G (p.Leu149=) c.546T>G (p.Leu182=) c.7446T>G (p.Leu2482=) c.215T>G (n.215T>G) c.7443T>G (p.Leu2481=) c.7455T>G (p.Leu2485=) c.7434T>G (p.Leu2478=) c.7089T>G (p.Leu2363=) c.3435T>G (p.Leu1145=) c.7329T>G (p.Leu2443=) c.7320T>G (p.Leu2440=) c.7335T>G (p.Leu2445=) c.1632T>G (p.Leu544=) | ClinVar dbSNP |
| X | g.31774044A>G | CA515859336 | DMD | c.2304T>C (p.Leu768=) c.78T>C (p.Leu26=) n.1119T>C n.1041T>C n.950T>C c.7458T>C (p.Leu2486=) c.3426T>C (p.Leu1142=) c.447T>C (p.Leu149=) c.546T>C (p.Leu182=) c.7446T>C (p.Leu2482=) c.215T>C (n.215T>C) c.7443T>C (p.Leu2481=) c.7455T>C (p.Leu2485=) c.7434T>C (p.Leu2478=) c.7089T>C (p.Leu2363=) c.3435T>C (p.Leu1145=) c.7329T>C (p.Leu2443=) c.7320T>C (p.Leu2440=) c.7335T>C (p.Leu2445=) c.1632T>C (p.Leu544=) | |
| X | g.31774044A>T | CA515859337 | DMD | c.2304T>A (p.Leu768=) c.78T>A (p.Leu26=) n.1119T>A n.1041T>A n.950T>A c.7458T>A (p.Leu2486=) c.3426T>A (p.Leu1142=) c.447T>A (p.Leu149=) c.546T>A (p.Leu182=) c.7446T>A (p.Leu2482=) c.215T>A (n.215T>A) c.7443T>A (p.Leu2481=) c.7455T>A (p.Leu2485=) c.7434T>A (p.Leu2478=) c.7089T>A (p.Leu2363=) c.3435T>A (p.Leu1145=) c.7329T>A (p.Leu2443=) c.7320T>A (p.Leu2440=) c.7335T>A (p.Leu2445=) c.1632T>A (p.Leu544=) | |
| X | g.31774045A>C | CA412658888 | DMD | c.2303T>G (p.Leu768Arg) c.77T>G (p.Leu26Arg) n.1118T>G n.1040T>G n.949T>G c.7457T>G (p.Leu2486Arg) c.3425T>G (p.Leu1142Arg) c.446T>G (p.Leu149Arg) c.545T>G (p.Leu182Arg) c.7445T>G (p.Leu2482Arg) c.214T>G (n.214T>G) c.7442T>G (p.Leu2481Arg) c.7454T>G (p.Leu2485Arg) c.7433T>G (p.Leu2478Arg) c.7088T>G (p.Leu2363Arg) c.3434T>G (p.Leu1145Arg) c.7328T>G (p.Leu2443Arg) c.7319T>G (p.Leu2440Arg) c.7334T>G (p.Leu2445Arg) c.1631T>G (p.Leu544Arg) | |
| X | g.31774045A>G | CA412658890 | DMD | c.2303T>C (p.Leu768Pro) c.77T>C (p.Leu26Pro) n.1118T>C n.1040T>C n.949T>C c.7457T>C (p.Leu2486Pro) c.3425T>C (p.Leu1142Pro) c.446T>C (p.Leu149Pro) c.545T>C (p.Leu182Pro) c.7445T>C (p.Leu2482Pro) c.214T>C (n.214T>C) c.7442T>C (p.Leu2481Pro) c.7454T>C (p.Leu2485Pro) c.7433T>C (p.Leu2478Pro) c.7088T>C (p.Leu2363Pro) c.3434T>C (p.Leu1145Pro) c.7328T>C (p.Leu2443Pro) c.7319T>C (p.Leu2440Pro) c.7334T>C (p.Leu2445Pro) c.1631T>C (p.Leu544Pro) | |
| X | g.31774045A>T | CA412658889 | DMD | c.2303T>A (p.Leu768His) c.77T>A (p.Leu26His) n.1118T>A n.1040T>A n.949T>A c.7457T>A (p.Leu2486His) c.3425T>A (p.Leu1142His) c.446T>A (p.Leu149His) c.545T>A (p.Leu182His) c.7445T>A (p.Leu2482His) c.214T>A (n.214T>A) c.7442T>A (p.Leu2481His) c.7454T>A (p.Leu2485His) c.7433T>A (p.Leu2478His) c.7088T>A (p.Leu2363His) c.3434T>A (p.Leu1145His) c.7328T>A (p.Leu2443His) c.7319T>A (p.Leu2440His) c.7334T>A (p.Leu2445His) c.1631T>A (p.Leu544His) | |
| X | g.31774046G>A | CA412658891 | DMD | c.2302C>T (p.Leu768Phe) c.76C>T (p.Leu26Phe) n.1117C>T n.1039C>T n.948C>T c.7456C>T (p.Leu2486Phe) c.3424C>T (p.Leu1142Phe) c.445C>T (p.Leu149Phe) c.544C>T (p.Leu182Phe) c.7444C>T (p.Leu2482Phe) c.213C>T (n.213C>T) c.7441C>T (p.Leu2481Phe) c.7453C>T (p.Leu2485Phe) c.7432C>T (p.Leu2478Phe) c.7087C>T (p.Leu2363Phe) c.3433C>T (p.Leu1145Phe) c.7327C>T (p.Leu2443Phe) c.7318C>T (p.Leu2440Phe) c.7333C>T (p.Leu2445Phe) c.1630C>T (p.Leu544Phe) | ClinVar |
| X | g.31774046G>C | CA412658892 | DMD | c.2302C>G (p.Leu768Val) c.76C>G (p.Leu26Val) n.1117C>G n.1039C>G n.948C>G c.7456C>G (p.Leu2486Val) c.3424C>G (p.Leu1142Val) c.445C>G (p.Leu149Val) c.544C>G (p.Leu182Val) c.7444C>G (p.Leu2482Val) c.213C>G (n.213C>G) c.7441C>G (p.Leu2481Val) c.7453C>G (p.Leu2485Val) c.7432C>G (p.Leu2478Val) c.7087C>G (p.Leu2363Val) c.3433C>G (p.Leu1145Val) c.7327C>G (p.Leu2443Val) c.7318C>G (p.Leu2440Val) c.7333C>G (p.Leu2445Val) c.1630C>G (p.Leu544Val) | |
| X | g.31774046G= | CA2422548634 | DMD | c.2302C= (p.Leu768=) c.76C= (p.Leu26=) n.1117C= n.1039C= n.948C= c.7456C= (p.Leu2486=) c.3424C= (p.Leu1142=) c.445C= (p.Leu149=) c.544C= (p.Leu182=) c.7444C= (p.Leu2482=) c.213C= (n.213C=) c.7441C= (p.Leu2481=) c.7453C= (p.Leu2485=) c.7432C= (p.Leu2478=) c.7087C= (p.Leu2363=) c.3433C= (p.Leu1145=) c.7327C= (p.Leu2443=) c.7318C= (p.Leu2440=) c.7333C= (p.Leu2445=) c.1630C= (p.Leu544=) | |
| X | g.31774046G>T | CA412658893 | DMD | c.2302C>A (p.Leu768Ile) c.76C>A (p.Leu26Ile) n.1117C>A n.1039C>A n.948C>A c.7456C>A (p.Leu2486Ile) c.3424C>A (p.Leu1142Ile) c.445C>A (p.Leu149Ile) c.544C>A (p.Leu182Ile) c.7444C>A (p.Leu2482Ile) c.213C>A (n.213C>A) c.7441C>A (p.Leu2481Ile) c.7453C>A (p.Leu2485Ile) c.7432C>A (p.Leu2478Ile) c.7087C>A (p.Leu2363Ile) c.3433C>A (p.Leu1145Ile) c.7327C>A (p.Leu2443Ile) c.7318C>A (p.Leu2440Ile) c.7333C>A (p.Leu2445Ile) c.1630C>A (p.Leu544Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31774047C>A | CA10378272 | DMD | c.2301G>T (p.Trp767Cys) c.75G>T (p.Trp25Cys) n.1116G>T n.1038G>T n.947G>T c.7455G>T (p.Trp2485Cys) c.3423G>T (p.Trp1141Cys) c.444G>T (p.Trp148Cys) c.543G>T (p.Trp181Cys) c.7443G>T (p.Trp2481Cys) c.212G>T (n.212G>T) c.7440G>T (p.Trp2480Cys) c.7452G>T (p.Trp2484Cys) c.7431G>T (p.Trp2477Cys) c.7086G>T (p.Trp2362Cys) c.3432G>T (p.Trp1144Cys) c.7326G>T (p.Trp2442Cys) c.7317G>T (p.Trp2439Cys) c.7332G>T (p.Trp2444Cys) c.1629G>T (p.Trp543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31774047C= | CA2422548635 | DMD | c.2301G= (p.Trp767=) c.75G= (p.Trp25=) n.1116G= n.1038G= n.947G= c.7455G= (p.Trp2485=) c.3423G= (p.Trp1141=) c.444G= (p.Trp148=) c.543G= (p.Trp181=) c.7443G= (p.Trp2481=) c.212G= (n.212G=) c.7440G= (p.Trp2480=) c.7452G= (p.Trp2484=) c.7431G= (p.Trp2477=) c.7086G= (p.Trp2362=) c.3432G= (p.Trp1144=) c.7326G= (p.Trp2442=) c.7317G= (p.Trp2439=) c.7332G= (p.Trp2444=) c.1629G= (p.Trp543=) | |
| X | g.31774047C>G | CA412658894 | DMD | c.2301G>C (p.Trp767Cys) c.75G>C (p.Trp25Cys) n.1116G>C n.1038G>C n.947G>C c.7455G>C (p.Trp2485Cys) c.3423G>C (p.Trp1141Cys) c.444G>C (p.Trp148Cys) c.543G>C (p.Trp181Cys) c.7443G>C (p.Trp2481Cys) c.212G>C (n.212G>C) c.7440G>C (p.Trp2480Cys) c.7452G>C (p.Trp2484Cys) c.7431G>C (p.Trp2477Cys) c.7086G>C (p.Trp2362Cys) c.3432G>C (p.Trp1144Cys) c.7326G>C (p.Trp2442Cys) c.7317G>C (p.Trp2439Cys) c.7332G>C (p.Trp2444Cys) c.1629G>C (p.Trp543Cys) | |
| X | g.31774047C>T | CA412658895 | DMD | c.2301G>A (p.Trp767Ter) c.75G>A (p.Trp25Ter) n.1116G>A n.1038G>A n.947G>A c.7455G>A (p.Trp2485Ter) c.3423G>A (p.Trp1141Ter) c.444G>A (p.Trp148Ter) c.543G>A (p.Trp181Ter) c.7443G>A (p.Trp2481Ter) c.212G>A (n.212G>A) c.7440G>A (p.Trp2480Ter) c.7452G>A (p.Trp2484Ter) c.7431G>A (p.Trp2477Ter) c.7086G>A (p.Trp2362Ter) c.3432G>A (p.Trp1144Ter) c.7326G>A (p.Trp2442Ter) c.7317G>A (p.Trp2439Ter) c.7332G>A (p.Trp2444Ter) c.1629G>A (p.Trp543Ter) | |
| X | g.31774048C>A | CA328470492 | DMD | c.2300G>T (p.Trp767Leu) c.74G>T (p.Trp25Leu) n.1115G>T n.1037G>T n.946G>T c.7454G>T (p.Trp2485Leu) c.3422G>T (p.Trp1141Leu) c.443G>T (p.Trp148Leu) c.542G>T (p.Trp181Leu) c.7442G>T (p.Trp2481Leu) c.211G>T (n.211G>T) c.7439G>T (p.Trp2480Leu) c.7451G>T (p.Trp2484Leu) c.7430G>T (p.Trp2477Leu) c.7085G>T (p.Trp2362Leu) c.3431G>T (p.Trp1144Leu) c.7325G>T (p.Trp2442Leu) c.7316G>T (p.Trp2439Leu) c.7331G>T (p.Trp2444Leu) c.1628G>T (p.Trp543Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31774048C= | CA2422548636 | DMD | c.2300G= (p.Trp767=) c.74G= (p.Trp25=) n.1115G= n.1037G= n.946G= c.7454G= (p.Trp2485=) c.3422G= (p.Trp1141=) c.443G= (p.Trp148=) c.542G= (p.Trp181=) c.7442G= (p.Trp2481=) c.211G= (n.211G=) c.7439G= (p.Trp2480=) c.7451G= (p.Trp2484=) c.7430G= (p.Trp2477=) c.7085G= (p.Trp2362=) c.3431G= (p.Trp1144=) c.7325G= (p.Trp2442=) c.7316G= (p.Trp2439=) c.7331G= (p.Trp2444=) c.1628G= (p.Trp543=) | |
| X | g.31774048C>G | CA412658896 | DMD | c.2300G>C (p.Trp767Ser) c.74G>C (p.Trp25Ser) n.1115G>C n.1037G>C n.946G>C c.7454G>C (p.Trp2485Ser) c.3422G>C (p.Trp1141Ser) c.443G>C (p.Trp148Ser) c.542G>C (p.Trp181Ser) c.7442G>C (p.Trp2481Ser) c.211G>C (n.211G>C) c.7439G>C (p.Trp2480Ser) c.7451G>C (p.Trp2484Ser) c.7430G>C (p.Trp2477Ser) c.7085G>C (p.Trp2362Ser) c.3431G>C (p.Trp1144Ser) c.7325G>C (p.Trp2442Ser) c.7316G>C (p.Trp2439Ser) c.7331G>C (p.Trp2444Ser) c.1628G>C (p.Trp543Ser) | |
| X | g.31774048C>T | CA412658897 | DMD | c.2300G>A (p.Trp767Ter) c.74G>A (p.Trp25Ter) n.1115G>A n.1037G>A n.946G>A c.7454G>A (p.Trp2485Ter) c.3422G>A (p.Trp1141Ter) c.443G>A (p.Trp148Ter) c.542G>A (p.Trp181Ter) c.7442G>A (p.Trp2481Ter) c.211G>A (n.211G>A) c.7439G>A (p.Trp2480Ter) c.7451G>A (p.Trp2484Ter) c.7430G>A (p.Trp2477Ter) c.7085G>A (p.Trp2362Ter) c.3431G>A (p.Trp1144Ter) c.7325G>A (p.Trp2442Ter) c.7316G>A (p.Trp2439Ter) c.7331G>A (p.Trp2444Ter) c.1628G>A (p.Trp543Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |