Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71611431C>G | CA2659553248 | DYSF | c.1474-34C>G (n.1474-34C>G) c.691-34C>G (n.691-34C>G) c.649-34C>G (n.649-34C>G) c.4006-34C>G (n.4006-34C>G) c.4060-34C>G (n.4060-34C>G) c.4009-34C>G (n.4009-34C>G) c.4057-34C>G (n.4057-34C>G) c.4102-34C>G (n.4102-34C>G) c.3967-34C>G (n.3967-34C>G) c.4099-34C>G (n.4099-34C>G) n.242-34C>G n.390-34C>G n.891-34C>G n.225-34C>G n.365+85C>G c.3964-34C>G (n.3964-34C>G) n.4260-34C>G | gnomAD v4 |
2 | g.71611432T>C | CA1260124102 | DYSF | c.1474-33T>C (n.1474-33T>C) c.691-33T>C (n.691-33T>C) c.649-33T>C (n.649-33T>C) c.4006-33T>C (n.4006-33T>C) c.4060-33T>C (n.4060-33T>C) c.4009-33T>C (n.4009-33T>C) c.4057-33T>C (n.4057-33T>C) c.4102-33T>C (n.4102-33T>C) c.3967-33T>C (n.3967-33T>C) c.4099-33T>C (n.4099-33T>C) n.242-33T>C n.390-33T>C n.891-33T>C n.225-33T>C n.365+86T>C c.3964-33T>C (n.3964-33T>C) n.4260-33T>C | dbSNP |
2 | g.71611432T= | CA1260124101 | DYSF | c.1474-33T= (n.1474-33T=) c.691-33T= (n.691-33T=) c.649-33T= (n.649-33T=) c.4006-33T= (n.4006-33T=) c.4060-33T= (n.4060-33T=) c.4009-33T= (n.4009-33T=) c.4057-33T= (n.4057-33T=) c.4102-33T= (n.4102-33T=) c.3967-33T= (n.3967-33T=) c.4099-33T= (n.4099-33T=) n.242-33T= n.390-33T= n.891-33T= n.225-33T= n.365+86T= c.3964-33T= (n.3964-33T=) n.4260-33T= | |
2 | g.71611433T>C | CA2659553249 | DYSF | c.1474-32T>C (n.1474-32T>C) c.691-32T>C (n.691-32T>C) c.649-32T>C (n.649-32T>C) c.4006-32T>C (n.4006-32T>C) c.4060-32T>C (n.4060-32T>C) c.4009-32T>C (n.4009-32T>C) c.4057-32T>C (n.4057-32T>C) c.4102-32T>C (n.4102-32T>C) c.3967-32T>C (n.3967-32T>C) c.4099-32T>C (n.4099-32T>C) n.242-32T>C n.390-32T>C n.891-32T>C n.225-32T>C n.365+87T>C c.3964-32T>C (n.3964-32T>C) n.4260-32T>C | gnomAD v4 |
2 | g.71611434C>A | CA533655631 | DYSF | c.1474-31C>A (n.1474-31C>A) c.691-31C>A (n.691-31C>A) c.649-31C>A (n.649-31C>A) c.4006-31C>A (n.4006-31C>A) c.4060-31C>A (n.4060-31C>A) c.4009-31C>A (n.4009-31C>A) c.4057-31C>A (n.4057-31C>A) c.4102-31C>A (n.4102-31C>A) c.3967-31C>A (n.3967-31C>A) c.4099-31C>A (n.4099-31C>A) n.242-31C>A n.390-31C>A n.891-31C>A n.225-31C>A n.365+88C>A c.3964-31C>A (n.3964-31C>A) n.4260-31C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611434C= | CA1260124103 | DYSF | c.1474-31C= (n.1474-31C=) c.691-31C= (n.691-31C=) c.649-31C= (n.649-31C=) c.4006-31C= (n.4006-31C=) c.4060-31C= (n.4060-31C=) c.4009-31C= (n.4009-31C=) c.4057-31C= (n.4057-31C=) c.4102-31C= (n.4102-31C=) c.3967-31C= (n.3967-31C=) c.4099-31C= (n.4099-31C=) n.242-31C= n.390-31C= n.891-31C= n.225-31C= n.365+88C= c.3964-31C= (n.3964-31C=) n.4260-31C= | |
2 | g.71611438G>C | CA2750416523 | DYSF | c.1474-27G>C (n.1474-27G>C) c.691-27G>C (n.691-27G>C) c.649-27G>C (n.649-27G>C) c.4006-27G>C (n.4006-27G>C) c.4060-27G>C (n.4060-27G>C) c.4009-27G>C (n.4009-27G>C) c.4057-27G>C (n.4057-27G>C) c.4102-27G>C (n.4102-27G>C) c.3967-27G>C (n.3967-27G>C) c.4099-27G>C (n.4099-27G>C) n.242-27G>C n.390-27G>C n.891-27G>C n.225-27G>C n.366-89G>C c.3964-27G>C (n.3964-27G>C) n.4260-27G>C | |
2 | g.71611439C= | CA1260124104 | DYSF | c.1474-26C= (n.1474-26C=) c.691-26C= (n.691-26C=) c.649-26C= (n.649-26C=) c.4006-26C= (n.4006-26C=) c.4060-26C= (n.4060-26C=) c.4009-26C= (n.4009-26C=) c.4057-26C= (n.4057-26C=) c.4102-26C= (n.4102-26C=) c.3967-26C= (n.3967-26C=) c.4099-26C= (n.4099-26C=) n.242-26C= n.390-26C= n.891-26C= n.225-26C= n.366-88C= c.3964-26C= (n.3964-26C=) n.4260-26C= | |
2 | g.71611439C>G | CA892651518 | DYSF | c.1474-26C>G (n.1474-26C>G) c.691-26C>G (n.691-26C>G) c.649-26C>G (n.649-26C>G) c.4006-26C>G (n.4006-26C>G) c.4060-26C>G (n.4060-26C>G) c.4009-26C>G (n.4009-26C>G) c.4057-26C>G (n.4057-26C>G) c.4102-26C>G (n.4102-26C>G) c.3967-26C>G (n.3967-26C>G) c.4099-26C>G (n.4099-26C>G) n.242-26C>G n.390-26C>G n.891-26C>G n.225-26C>G n.366-88C>G c.3964-26C>G (n.3964-26C>G) n.4260-26C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611440C= | CA1260124105 | DYSF | c.1474-25C= (n.1474-25C=) c.691-25C= (n.691-25C=) c.649-25C= (n.649-25C=) c.4006-25C= (n.4006-25C=) c.4060-25C= (n.4060-25C=) c.4009-25C= (n.4009-25C=) c.4057-25C= (n.4057-25C=) c.4102-25C= (n.4102-25C=) c.3967-25C= (n.3967-25C=) c.4099-25C= (n.4099-25C=) n.242-25C= n.390-25C= n.891-25C= n.225-25C= n.366-87C= c.3964-25C= (n.3964-25C=) n.4260-25C= | |
2 | g.71611440C>T | CA1706881 | DYSF | c.1474-25C>T (n.1474-25C>T) c.691-25C>T (n.691-25C>T) c.649-25C>T (n.649-25C>T) c.4006-25C>T (n.4006-25C>T) c.4060-25C>T (n.4060-25C>T) c.4009-25C>T (n.4009-25C>T) c.4057-25C>T (n.4057-25C>T) c.4102-25C>T (n.4102-25C>T) c.3967-25C>T (n.3967-25C>T) c.4099-25C>T (n.4099-25C>T) n.242-25C>T n.390-25C>T n.891-25C>T n.225-25C>T n.366-87C>T c.3964-25C>T (n.3964-25C>T) n.4260-25C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611441A= | CA1260124106 | DYSF | c.1474-24A= (n.1474-24A=) c.691-24A= (n.691-24A=) c.649-24A= (n.649-24A=) c.4006-24A= (n.4006-24A=) c.4060-24A= (n.4060-24A=) c.4009-24A= (n.4009-24A=) c.4057-24A= (n.4057-24A=) c.4102-24A= (n.4102-24A=) c.3967-24A= (n.3967-24A=) c.4099-24A= (n.4099-24A=) n.242-24A= n.390-24A= n.891-24A= n.225-24A= n.366-86A= c.3964-24A= (n.3964-24A=) n.4260-24A= | |
2 | g.71611441A>G | CA1260124107 | DYSF | c.1474-24A>G (n.1474-24A>G) c.691-24A>G (n.691-24A>G) c.649-24A>G (n.649-24A>G) c.4006-24A>G (n.4006-24A>G) c.4060-24A>G (n.4060-24A>G) c.4009-24A>G (n.4009-24A>G) c.4057-24A>G (n.4057-24A>G) c.4102-24A>G (n.4102-24A>G) c.3967-24A>G (n.3967-24A>G) c.4099-24A>G (n.4099-24A>G) n.242-24A>G n.390-24A>G n.891-24A>G n.225-24A>G n.366-86A>G c.3964-24A>G (n.3964-24A>G) n.4260-24A>G | dbSNP gnomAD v4 |
2 | g.71611442C>G | CA2659553250 | DYSF | c.1474-23C>G (n.1474-23C>G) c.691-23C>G (n.691-23C>G) c.649-23C>G (n.649-23C>G) c.4006-23C>G (n.4006-23C>G) c.4060-23C>G (n.4060-23C>G) c.4009-23C>G (n.4009-23C>G) c.4057-23C>G (n.4057-23C>G) c.4102-23C>G (n.4102-23C>G) c.3967-23C>G (n.3967-23C>G) c.4099-23C>G (n.4099-23C>G) n.242-23C>G n.390-23C>G n.891-23C>G n.225-23C>G n.366-85C>G c.3964-23C>G (n.3964-23C>G) n.4260-23C>G | gnomAD v4 |
2 | g.71611442C>T | CA2577000502 | DYSF | c.1474-23C>T (n.1474-23C>T) c.691-23C>T (n.691-23C>T) c.649-23C>T (n.649-23C>T) c.4006-23C>T (n.4006-23C>T) c.4060-23C>T (n.4060-23C>T) c.4009-23C>T (n.4009-23C>T) c.4057-23C>T (n.4057-23C>T) c.4102-23C>T (n.4102-23C>T) c.3967-23C>T (n.3967-23C>T) c.4099-23C>T (n.4099-23C>T) n.242-23C>T n.390-23C>T n.891-23C>T n.225-23C>T n.366-85C>T c.3964-23C>T (n.3964-23C>T) n.4260-23C>T | |
2 | g.71611443T>A | CA1706882 | DYSF | c.1474-22T>A (n.1474-22T>A) c.691-22T>A (n.691-22T>A) c.649-22T>A (n.649-22T>A) c.4006-22T>A (n.4006-22T>A) c.4060-22T>A (n.4060-22T>A) c.4009-22T>A (n.4009-22T>A) c.4057-22T>A (n.4057-22T>A) c.4102-22T>A (n.4102-22T>A) c.3967-22T>A (n.3967-22T>A) c.4099-22T>A (n.4099-22T>A) n.242-22T>A n.390-22T>A n.891-22T>A n.225-22T>A n.366-84T>A c.3964-22T>A (n.3964-22T>A) n.4260-22T>A | dbSNP ExAC gnomAD v2 |
2 | g.71611443T= | CA1260124108 | DYSF | c.1474-22T= (n.1474-22T=) c.691-22T= (n.691-22T=) c.649-22T= (n.649-22T=) c.4006-22T= (n.4006-22T=) c.4060-22T= (n.4060-22T=) c.4009-22T= (n.4009-22T=) c.4057-22T= (n.4057-22T=) c.4102-22T= (n.4102-22T=) c.3967-22T= (n.3967-22T=) c.4099-22T= (n.4099-22T=) n.242-22T= n.390-22T= n.891-22T= n.225-22T= n.366-84T= c.3964-22T= (n.3964-22T=) n.4260-22T= | |
2 | g.71611444C= | CA1260124109 | DYSF | c.1474-21C= (n.1474-21C=) c.691-21C= (n.691-21C=) c.649-21C= (n.649-21C=) c.4006-21C= (n.4006-21C=) c.4060-21C= (n.4060-21C=) c.4009-21C= (n.4009-21C=) c.4057-21C= (n.4057-21C=) c.4102-21C= (n.4102-21C=) c.3967-21C= (n.3967-21C=) c.4099-21C= (n.4099-21C=) n.242-21C= n.390-21C= n.891-21C= n.225-21C= n.366-83C= c.3964-21C= (n.3964-21C=) n.4260-21C= | |
2 | g.71611444C>G | CA892651526 | DYSF | c.1474-21C>G (n.1474-21C>G) c.691-21C>G (n.691-21C>G) c.649-21C>G (n.649-21C>G) c.4006-21C>G (n.4006-21C>G) c.4060-21C>G (n.4060-21C>G) c.4009-21C>G (n.4009-21C>G) c.4057-21C>G (n.4057-21C>G) c.4102-21C>G (n.4102-21C>G) c.3967-21C>G (n.3967-21C>G) c.4099-21C>G (n.4099-21C>G) n.242-21C>G n.390-21C>G n.891-21C>G n.225-21C>G n.366-83C>G c.3964-21C>G (n.3964-21C>G) n.4260-21C>G | dbSNP |
2 | g.71611444C>T | CA1706883 | DYSF | c.1474-21C>T (n.1474-21C>T) c.691-21C>T (n.691-21C>T) c.649-21C>T (n.649-21C>T) c.4006-21C>T (n.4006-21C>T) c.4060-21C>T (n.4060-21C>T) c.4009-21C>T (n.4009-21C>T) c.4057-21C>T (n.4057-21C>T) c.4102-21C>T (n.4102-21C>T) c.3967-21C>T (n.3967-21C>T) c.4099-21C>T (n.4099-21C>T) n.242-21C>T n.390-21C>T n.891-21C>T n.225-21C>T n.366-83C>T c.3964-21C>T (n.3964-21C>T) n.4260-21C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611446C>A | CA2577000503 | DYSF | c.1474-19C>A (n.1474-19C>A) c.691-19C>A (n.691-19C>A) c.649-19C>A (n.649-19C>A) c.4006-19C>A (n.4006-19C>A) c.4060-19C>A (n.4060-19C>A) c.4009-19C>A (n.4009-19C>A) c.4057-19C>A (n.4057-19C>A) c.4102-19C>A (n.4102-19C>A) c.3967-19C>A (n.3967-19C>A) c.4099-19C>A (n.4099-19C>A) n.242-19C>A n.390-19C>A n.891-19C>A n.225-19C>A n.366-81C>A c.3964-19C>A (n.3964-19C>A) n.4260-19C>A | gnomAD v4 |
2 | g.71611446C>T | CA2573135724 | DYSF | c.1474-19C>T (n.1474-19C>T) c.691-19C>T (n.691-19C>T) c.649-19C>T (n.649-19C>T) c.4006-19C>T (n.4006-19C>T) c.4060-19C>T (n.4060-19C>T) c.4009-19C>T (n.4009-19C>T) c.4057-19C>T (n.4057-19C>T) c.4102-19C>T (n.4102-19C>T) c.3967-19C>T (n.3967-19C>T) c.4099-19C>T (n.4099-19C>T) n.242-19C>T n.390-19C>T n.891-19C>T n.225-19C>T n.366-81C>T c.3964-19C>T (n.3964-19C>T) n.4260-19C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611447C>T | CA2659553251 | DYSF | c.1474-18C>T (n.1474-18C>T) c.691-18C>T (n.691-18C>T) c.649-18C>T (n.649-18C>T) c.4006-18C>T (n.4006-18C>T) c.4060-18C>T (n.4060-18C>T) c.4009-18C>T (n.4009-18C>T) c.4057-18C>T (n.4057-18C>T) c.4102-18C>T (n.4102-18C>T) c.3967-18C>T (n.3967-18C>T) c.4099-18C>T (n.4099-18C>T) n.242-18C>T n.390-18C>T n.891-18C>T n.225-18C>T n.366-80C>T c.3964-18C>T (n.3964-18C>T) n.4260-18C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611448T>G | CA49778902 | DYSF | c.1474-17T>G (n.1474-17T>G) c.691-17T>G (n.691-17T>G) c.649-17T>G (n.649-17T>G) c.4006-17T>G (n.4006-17T>G) c.4060-17T>G (n.4060-17T>G) c.4009-17T>G (n.4009-17T>G) c.4057-17T>G (n.4057-17T>G) c.4102-17T>G (n.4102-17T>G) c.3967-17T>G (n.3967-17T>G) c.4099-17T>G (n.4099-17T>G) n.242-17T>G n.390-17T>G n.891-17T>G n.225-17T>G n.366-79T>G c.3964-17T>G (n.3964-17T>G) n.4260-17T>G | ClinVar dbSNP gnomAD v4 |
2 | g.71611448T= | CA1260124110 | DYSF | c.1474-17T= (n.1474-17T=) c.691-17T= (n.691-17T=) c.649-17T= (n.649-17T=) c.4006-17T= (n.4006-17T=) c.4060-17T= (n.4060-17T=) c.4009-17T= (n.4009-17T=) c.4057-17T= (n.4057-17T=) c.4102-17T= (n.4102-17T=) c.3967-17T= (n.3967-17T=) c.4099-17T= (n.4099-17T=) n.242-17T= n.390-17T= n.891-17T= n.225-17T= n.366-79T= c.3964-17T= (n.3964-17T=) n.4260-17T= | |
2 | g.71611449C= | CA1260124111 | DYSF | c.1474-16C= (n.1474-16C=) c.691-16C= (n.691-16C=) c.649-16C= (n.649-16C=) c.4006-16C= (n.4006-16C=) c.4060-16C= (n.4060-16C=) c.4009-16C= (n.4009-16C=) c.4057-16C= (n.4057-16C=) c.4102-16C= (n.4102-16C=) c.3967-16C= (n.3967-16C=) c.4099-16C= (n.4099-16C=) n.242-16C= n.390-16C= n.891-16C= n.225-16C= n.366-78C= c.3964-16C= (n.3964-16C=) n.4260-16C= | |
2 | g.71611449C>T | CA1260124112 | DYSF | c.1474-16C>T (n.1474-16C>T) c.691-16C>T (n.691-16C>T) c.649-16C>T (n.649-16C>T) c.4006-16C>T (n.4006-16C>T) c.4060-16C>T (n.4060-16C>T) c.4009-16C>T (n.4009-16C>T) c.4057-16C>T (n.4057-16C>T) c.4102-16C>T (n.4102-16C>T) c.3967-16C>T (n.3967-16C>T) c.4099-16C>T (n.4099-16C>T) n.242-16C>T n.390-16C>T n.891-16C>T n.225-16C>T n.366-78C>T c.3964-16C>T (n.3964-16C>T) n.4260-16C>T | ClinVar dbSNP |
2 | g.71611450A= | CA1260124113 | DYSF | c.1474-15A= (n.1474-15A=) c.691-15A= (n.691-15A=) c.649-15A= (n.649-15A=) c.4006-15A= (n.4006-15A=) c.4060-15A= (n.4060-15A=) c.4009-15A= (n.4009-15A=) c.4057-15A= (n.4057-15A=) c.4102-15A= (n.4102-15A=) c.3967-15A= (n.3967-15A=) c.4099-15A= (n.4099-15A=) n.242-15A= n.390-15A= n.891-15A= n.225-15A= n.366-77A= c.3964-15A= (n.3964-15A=) n.4260-15A= | |
2 | g.71611450A>T | CA533655632 | DYSF | c.1474-15A>T (n.1474-15A>T) c.691-15A>T (n.691-15A>T) c.649-15A>T (n.649-15A>T) c.4006-15A>T (n.4006-15A>T) c.4060-15A>T (n.4060-15A>T) c.4009-15A>T (n.4009-15A>T) c.4057-15A>T (n.4057-15A>T) c.4102-15A>T (n.4102-15A>T) c.3967-15A>T (n.3967-15A>T) c.4099-15A>T (n.4099-15A>T) n.242-15A>T n.390-15A>T n.891-15A>T n.225-15A>T n.366-77A>T c.3964-15A>T (n.3964-15A>T) n.4260-15A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611451T>C | CA892651538 | DYSF | c.1474-14T>C (n.1474-14T>C) c.691-14T>C (n.691-14T>C) c.649-14T>C (n.649-14T>C) c.4006-14T>C (n.4006-14T>C) c.4060-14T>C (n.4060-14T>C) c.4009-14T>C (n.4009-14T>C) c.4057-14T>C (n.4057-14T>C) c.4102-14T>C (n.4102-14T>C) c.3967-14T>C (n.3967-14T>C) c.4099-14T>C (n.4099-14T>C) n.242-14T>C n.390-14T>C n.891-14T>C n.225-14T>C n.366-76T>C c.3964-14T>C (n.3964-14T>C) n.4260-14T>C | ClinVar dbSNP |
2 | g.71611451T>G | CA2750416524 | DYSF | c.1474-14T>G (n.1474-14T>G) c.691-14T>G (n.691-14T>G) c.649-14T>G (n.649-14T>G) c.4006-14T>G (n.4006-14T>G) c.4060-14T>G (n.4060-14T>G) c.4009-14T>G (n.4009-14T>G) c.4057-14T>G (n.4057-14T>G) c.4102-14T>G (n.4102-14T>G) c.3967-14T>G (n.3967-14T>G) c.4099-14T>G (n.4099-14T>G) n.242-14T>G n.390-14T>G n.891-14T>G n.225-14T>G n.366-76T>G c.3964-14T>G (n.3964-14T>G) n.4260-14T>G | |
2 | g.71611451T= | CA1260124114 | DYSF | c.1474-14T= (n.1474-14T=) c.691-14T= (n.691-14T=) c.649-14T= (n.649-14T=) c.4006-14T= (n.4006-14T=) c.4060-14T= (n.4060-14T=) c.4009-14T= (n.4009-14T=) c.4057-14T= (n.4057-14T=) c.4102-14T= (n.4102-14T=) c.3967-14T= (n.3967-14T=) c.4099-14T= (n.4099-14T=) n.242-14T= n.390-14T= n.891-14T= n.225-14T= n.366-76T= c.3964-14T= (n.3964-14T=) n.4260-14T= | |
2 | g.71611453C= | CA1260124115 | DYSF | c.1474-12C= (n.1474-12C=) c.691-12C= (n.691-12C=) c.649-12C= (n.649-12C=) c.4006-12C= (n.4006-12C=) c.4060-12C= (n.4060-12C=) c.4009-12C= (n.4009-12C=) c.4057-12C= (n.4057-12C=) c.4102-12C= (n.4102-12C=) c.3967-12C= (n.3967-12C=) c.4099-12C= (n.4099-12C=) n.242-12C= n.390-12C= n.891-12C= n.225-12C= n.366-74C= c.3964-12C= (n.3964-12C=) n.4260-12C= | |
2 | g.71611453C>T | CA1706884 | DYSF | c.1474-12C>T (n.1474-12C>T) c.691-12C>T (n.691-12C>T) c.649-12C>T (n.649-12C>T) c.4006-12C>T (n.4006-12C>T) c.4060-12C>T (n.4060-12C>T) c.4009-12C>T (n.4009-12C>T) c.4057-12C>T (n.4057-12C>T) c.4102-12C>T (n.4102-12C>T) c.3967-12C>T (n.3967-12C>T) c.4099-12C>T (n.4099-12C>T) n.242-12C>T n.390-12C>T n.891-12C>T n.225-12C>T n.366-74C>T c.3964-12C>T (n.3964-12C>T) n.4260-12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611454T>G | CA1260124117 | DYSF | c.1474-11T>G (n.1474-11T>G) c.691-11T>G (n.691-11T>G) c.649-11T>G (n.649-11T>G) c.4006-11T>G (n.4006-11T>G) c.4060-11T>G (n.4060-11T>G) c.4009-11T>G (n.4009-11T>G) c.4057-11T>G (n.4057-11T>G) c.4102-11T>G (n.4102-11T>G) c.3967-11T>G (n.3967-11T>G) c.4099-11T>G (n.4099-11T>G) n.242-11T>G n.390-11T>G n.891-11T>G n.225-11T>G n.366-73T>G c.3964-11T>G (n.3964-11T>G) n.4260-11T>G | dbSNP |
2 | g.71611454T= | CA1260124116 | DYSF | c.1474-11T= (n.1474-11T=) c.691-11T= (n.691-11T=) c.649-11T= (n.649-11T=) c.4006-11T= (n.4006-11T=) c.4060-11T= (n.4060-11T=) c.4009-11T= (n.4009-11T=) c.4057-11T= (n.4057-11T=) c.4102-11T= (n.4102-11T=) c.3967-11T= (n.3967-11T=) c.4099-11T= (n.4099-11T=) n.242-11T= n.390-11T= n.891-11T= n.225-11T= n.366-73T= c.3964-11T= (n.3964-11T=) n.4260-11T= | |
2 | g.71611455G>A | CA2659553252 | DYSF | c.1474-10G>A (n.1474-10G>A) c.691-10G>A (n.691-10G>A) c.649-10G>A (n.649-10G>A) c.4006-10G>A (n.4006-10G>A) c.4060-10G>A (n.4060-10G>A) c.4009-10G>A (n.4009-10G>A) c.4057-10G>A (n.4057-10G>A) c.4102-10G>A (n.4102-10G>A) c.3967-10G>A (n.3967-10G>A) c.4099-10G>A (n.4099-10G>A) n.242-10G>A n.390-10G>A n.891-10G>A n.225-10G>A n.366-72G>A c.3964-10G>A (n.3964-10G>A) n.4260-10G>A | gnomAD v4 |
2 | g.71611455G= | CA1260124118 | DYSF | c.1474-10G= (n.1474-10G=) c.691-10G= (n.691-10G=) c.649-10G= (n.649-10G=) c.4006-10G= (n.4006-10G=) c.4060-10G= (n.4060-10G=) c.4009-10G= (n.4009-10G=) c.4057-10G= (n.4057-10G=) c.4102-10G= (n.4102-10G=) c.3967-10G= (n.3967-10G=) c.4099-10G= (n.4099-10G=) n.242-10G= n.390-10G= n.891-10G= n.225-10G= n.366-72G= c.3964-10G= (n.3964-10G=) n.4260-10G= | |
2 | g.71611455G>T | CA533655633 | DYSF | c.1474-10G>T (n.1474-10G>T) c.691-10G>T (n.691-10G>T) c.649-10G>T (n.649-10G>T) c.4006-10G>T (n.4006-10G>T) c.4060-10G>T (n.4060-10G>T) c.4009-10G>T (n.4009-10G>T) c.4057-10G>T (n.4057-10G>T) c.4102-10G>T (n.4102-10G>T) c.3967-10G>T (n.3967-10G>T) c.4099-10G>T (n.4099-10G>T) n.242-10G>T n.390-10G>T n.891-10G>T n.225-10G>T n.366-72G>T c.3964-10G>T (n.3964-10G>T) n.4260-10G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611456T>C | CA2659553253 | DYSF | c.1474-9T>C (n.1474-9T>C) c.691-9T>C (n.691-9T>C) c.649-9T>C (n.649-9T>C) c.4006-9T>C (n.4006-9T>C) c.4060-9T>C (n.4060-9T>C) c.4009-9T>C (n.4009-9T>C) c.4057-9T>C (n.4057-9T>C) c.4102-9T>C (n.4102-9T>C) c.3967-9T>C (n.3967-9T>C) c.4099-9T>C (n.4099-9T>C) n.242-9T>C n.390-9T>C n.891-9T>C n.225-9T>C n.366-71T>C c.3964-9T>C (n.3964-9T>C) n.4260-9T>C | gnomAD v4 |
2 | g.71611457G= | CA1260124119 | DYSF | c.1474-8G= (n.1474-8G=) c.691-8G= (n.691-8G=) c.649-8G= (n.649-8G=) c.4006-8G= (n.4006-8G=) c.4060-8G= (n.4060-8G=) c.4009-8G= (n.4009-8G=) c.4057-8G= (n.4057-8G=) c.4102-8G= (n.4102-8G=) c.3967-8G= (n.3967-8G=) c.4099-8G= (n.4099-8G=) n.242-8G= n.390-8G= n.891-8G= n.225-8G= n.366-70G= c.3964-8G= (n.3964-8G=) n.4260-8G= | |
2 | g.71611457G>T | CA49778910 | DYSF | c.1474-8G>T (n.1474-8G>T) c.691-8G>T (n.691-8G>T) c.649-8G>T (n.649-8G>T) c.4006-8G>T (n.4006-8G>T) c.4060-8G>T (n.4060-8G>T) c.4009-8G>T (n.4009-8G>T) c.4057-8G>T (n.4057-8G>T) c.4102-8G>T (n.4102-8G>T) c.3967-8G>T (n.3967-8G>T) c.4099-8G>T (n.4099-8G>T) n.242-8G>T n.390-8G>T n.891-8G>T n.225-8G>T n.366-70G>T c.3964-8G>T (n.3964-8G>T) n.4260-8G>T | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.71611458T>A | CA1706885 | DYSF | c.1474-7T>A (n.1474-7T>A) c.691-7T>A (n.691-7T>A) c.649-7T>A (n.649-7T>A) c.4006-7T>A (n.4006-7T>A) c.4060-7T>A (n.4060-7T>A) c.4009-7T>A (n.4009-7T>A) c.4057-7T>A (n.4057-7T>A) c.4102-7T>A (n.4102-7T>A) c.3967-7T>A (n.3967-7T>A) c.4099-7T>A (n.4099-7T>A) n.242-7T>A n.390-7T>A n.891-7T>A n.225-7T>A n.366-69T>A c.3964-7T>A (n.3964-7T>A) n.4260-7T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611458T= | CA1260124120 | DYSF | c.1474-7T= (n.1474-7T=) c.691-7T= (n.691-7T=) c.649-7T= (n.649-7T=) c.4006-7T= (n.4006-7T=) c.4060-7T= (n.4060-7T=) c.4009-7T= (n.4009-7T=) c.4057-7T= (n.4057-7T=) c.4102-7T= (n.4102-7T=) c.3967-7T= (n.3967-7T=) c.4099-7T= (n.4099-7T=) n.242-7T= n.390-7T= n.891-7T= n.225-7T= n.366-69T= c.3964-7T= (n.3964-7T=) n.4260-7T= | |
2 | g.71611460C= | CA1260124121 | DYSF | c.1474-5C= (n.1474-5C=) c.691-5C= (n.691-5C=) c.649-5C= (n.649-5C=) c.4006-5C= (n.4006-5C=) c.4060-5C= (n.4060-5C=) c.4009-5C= (n.4009-5C=) c.4057-5C= (n.4057-5C=) c.4102-5C= (n.4102-5C=) c.3967-5C= (n.3967-5C=) c.4099-5C= (n.4099-5C=) n.242-5C= n.390-5C= n.891-5C= n.225-5C= n.366-67C= c.3964-5C= (n.3964-5C=) n.4260-5C= | |
2 | g.71611460C>T | CA1706886 | DYSF | c.1474-5C>T (n.1474-5C>T) c.691-5C>T (n.691-5C>T) c.649-5C>T (n.649-5C>T) c.4006-5C>T (n.4006-5C>T) c.4060-5C>T (n.4060-5C>T) c.4009-5C>T (n.4009-5C>T) c.4057-5C>T (n.4057-5C>T) c.4102-5C>T (n.4102-5C>T) c.3967-5C>T (n.3967-5C>T) c.4099-5C>T (n.4099-5C>T) n.242-5C>T n.390-5C>T n.891-5C>T n.225-5C>T n.366-67C>T c.3964-5C>T (n.3964-5C>T) n.4260-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611462_71611469del | CA2659553254 | DYSF | c.1474-3_1478del c.691-3_695del c.649-3_653del c.4006-3_4010del c.4060-3_4064del c.4009-3_4013del c.4057-3_4061del c.4102-3_4106del c.3967-3_3971del c.4099-3_4103del n.242-3_246del n.390-3_394del n.891-3_895del n.225-3_229del n.366-65_366-58del c.3964-3_3968del n.4260-3_4264del | gnomAD v4 |
2 | g.71611461T>C | CA2659553255 | DYSF | c.1474-4T>C (n.1474-4T>C) c.691-4T>C (n.691-4T>C) c.649-4T>C (n.649-4T>C) c.4006-4T>C (n.4006-4T>C) c.4060-4T>C (n.4060-4T>C) c.4009-4T>C (n.4009-4T>C) c.4057-4T>C (n.4057-4T>C) c.4102-4T>C (n.4102-4T>C) c.3967-4T>C (n.3967-4T>C) c.4099-4T>C (n.4099-4T>C) n.242-4T>C n.390-4T>C n.891-4T>C n.225-4T>C n.366-66T>C c.3964-4T>C (n.3964-4T>C) n.4260-4T>C | gnomAD v4 |
2 | g.71611463A= | CA1260124122 | DYSF | c.1474-2A= (n.1474-2A=) c.691-2A= (n.691-2A=) c.649-2A= (n.649-2A=) c.4006-2A= (n.4006-2A=) c.4060-2A= (n.4060-2A=) c.4009-2A= (n.4009-2A=) c.4057-2A= (n.4057-2A=) c.4102-2A= (n.4102-2A=) c.3967-2A= (n.3967-2A=) c.4099-2A= (n.4099-2A=) n.242-2A= n.390-2A= n.891-2A= n.225-2A= n.366-64A= c.3964-2A= (n.3964-2A=) n.4260-2A= | |
2 | g.71611463A>C | CA347228374 | DYSF | c.1474-2A>C (n.1474-2A>C) c.691-2A>C (n.691-2A>C) c.649-2A>C (n.649-2A>C) c.4006-2A>C (n.4006-2A>C) c.4060-2A>C (n.4060-2A>C) c.4009-2A>C (n.4009-2A>C) c.4057-2A>C (n.4057-2A>C) c.4102-2A>C (n.4102-2A>C) c.3967-2A>C (n.3967-2A>C) c.4099-2A>C (n.4099-2A>C) n.242-2A>C n.390-2A>C n.891-2A>C n.225-2A>C n.366-64A>C c.3964-2A>C (n.3964-2A>C) n.4260-2A>C | |
2 | g.71611463A>G | CA347228375 | DYSF | c.1474-2A>G (n.1474-2A>G) c.691-2A>G (n.691-2A>G) c.649-2A>G (n.649-2A>G) c.4006-2A>G (n.4006-2A>G) c.4060-2A>G (n.4060-2A>G) c.4009-2A>G (n.4009-2A>G) c.4057-2A>G (n.4057-2A>G) c.4102-2A>G (n.4102-2A>G) c.3967-2A>G (n.3967-2A>G) c.4099-2A>G (n.4099-2A>G) n.242-2A>G n.390-2A>G n.891-2A>G n.225-2A>G n.366-64A>G c.3964-2A>G (n.3964-2A>G) n.4260-2A>G | dbSNP gnomAD v4 |
2 | g.71611463A>T | CA347228376 | DYSF | c.1474-2A>T (n.1474-2A>T) c.691-2A>T (n.691-2A>T) c.649-2A>T (n.649-2A>T) c.4006-2A>T (n.4006-2A>T) c.4060-2A>T (n.4060-2A>T) c.4009-2A>T (n.4009-2A>T) c.4057-2A>T (n.4057-2A>T) c.4102-2A>T (n.4102-2A>T) c.3967-2A>T (n.3967-2A>T) c.4099-2A>T (n.4099-2A>T) n.242-2A>T n.390-2A>T n.891-2A>T n.225-2A>T n.366-64A>T c.3964-2A>T (n.3964-2A>T) n.4260-2A>T | |
2 | g.71611464G>A | CA347228378 | DYSF | c.1474-1G>A (n.1474-1G>A) c.691-1G>A (n.691-1G>A) c.649-1G>A (n.649-1G>A) c.4006-1G>A (n.4006-1G>A) c.4060-1G>A (n.4060-1G>A) c.4009-1G>A (n.4009-1G>A) c.4057-1G>A (n.4057-1G>A) c.4102-1G>A (n.4102-1G>A) c.3967-1G>A (n.3967-1G>A) c.4099-1G>A (n.4099-1G>A) n.242-1G>A n.390-1G>A n.891-1G>A n.225-1G>A n.366-63G>A c.3964-1G>A (n.3964-1G>A) n.4260-1G>A | |
2 | g.71611464G>C | CA347228379 | DYSF | c.1474-1G>C (n.1474-1G>C) c.691-1G>C (n.691-1G>C) c.649-1G>C (n.649-1G>C) c.4006-1G>C (n.4006-1G>C) c.4060-1G>C (n.4060-1G>C) c.4009-1G>C (n.4009-1G>C) c.4057-1G>C (n.4057-1G>C) c.4102-1G>C (n.4102-1G>C) c.3967-1G>C (n.3967-1G>C) c.4099-1G>C (n.4099-1G>C) n.242-1G>C n.390-1G>C n.891-1G>C n.225-1G>C n.366-63G>C c.3964-1G>C (n.3964-1G>C) n.4260-1G>C | |
2 | g.71611464G>T | CA347228377 | DYSF | c.1474-1G>T (n.1474-1G>T) c.691-1G>T (n.691-1G>T) c.649-1G>T (n.649-1G>T) c.4006-1G>T (n.4006-1G>T) c.4060-1G>T (n.4060-1G>T) c.4009-1G>T (n.4009-1G>T) c.4057-1G>T (n.4057-1G>T) c.4102-1G>T (n.4102-1G>T) c.3967-1G>T (n.3967-1G>T) c.4099-1G>T (n.4099-1G>T) n.242-1G>T n.390-1G>T n.891-1G>T n.225-1G>T n.366-63G>T c.3964-1G>T (n.3964-1G>T) n.4260-1G>T | |
2 | g.71611465A>C | CA347228382 | DYSF | c.1474A>C (p.Ile492Leu) c.691A>C (p.Ile231Leu) c.649A>C (p.Ile217Leu) c.4006A>C (p.Ile1336Leu) c.4060A>C (p.Ile1354Leu) c.4009A>C (p.Ile1337Leu) c.4057A>C (p.Ile1353Leu) c.4102A>C (p.Ile1368Leu) c.3967A>C (p.Ile1323Leu) c.4099A>C (p.Ile1367Leu) n.242A>C n.390A>C n.891A>C n.225A>C n.366-62A>C c.3964A>C (p.Ile1322Leu) n.4260A>C | |
2 | g.71611465A>G | CA347228380 | DYSF | c.1474A>G (p.Ile492Val) c.691A>G (p.Ile231Val) c.649A>G (p.Ile217Val) c.4006A>G (p.Ile1336Val) c.4060A>G (p.Ile1354Val) c.4009A>G (p.Ile1337Val) c.4057A>G (p.Ile1353Val) c.4102A>G (p.Ile1368Val) c.3967A>G (p.Ile1323Val) c.4099A>G (p.Ile1367Val) n.242A>G n.390A>G n.891A>G n.225A>G n.366-62A>G c.3964A>G (p.Ile1322Val) n.4260A>G | |
2 | g.71611465A>T | CA347228381 | DYSF | c.1474A>T (p.Ile492Phe) c.691A>T (p.Ile231Phe) c.649A>T (p.Ile217Phe) c.4006A>T (p.Ile1336Phe) c.4060A>T (p.Ile1354Phe) c.4009A>T (p.Ile1337Phe) c.4057A>T (p.Ile1353Phe) c.4102A>T (p.Ile1368Phe) c.3967A>T (p.Ile1323Phe) c.4099A>T (p.Ile1367Phe) n.242A>T n.390A>T n.891A>T n.225A>T n.366-62A>T c.3964A>T (p.Ile1322Phe) n.4260A>T | |
2 | g.71611466T>A | CA347228383 | DYSF | c.1475T>A (p.Ile492Asn) c.692T>A (p.Ile231Asn) c.650T>A (p.Ile217Asn) c.4007T>A (p.Ile1336Asn) c.4061T>A (p.Ile1354Asn) c.4010T>A (p.Ile1337Asn) c.4058T>A (p.Ile1353Asn) c.4103T>A (p.Ile1368Asn) c.3968T>A (p.Ile1323Asn) c.4100T>A (p.Ile1367Asn) n.243T>A n.391T>A n.892T>A n.226T>A n.366-61T>A c.3965T>A (p.Ile1322Asn) n.4261T>A | |
2 | g.71611466T>C | CA347228384 | DYSF | c.1475T>C (p.Ile492Thr) c.692T>C (p.Ile231Thr) c.650T>C (p.Ile217Thr) c.4007T>C (p.Ile1336Thr) c.4061T>C (p.Ile1354Thr) c.4010T>C (p.Ile1337Thr) c.4058T>C (p.Ile1353Thr) c.4103T>C (p.Ile1368Thr) c.3968T>C (p.Ile1323Thr) c.4100T>C (p.Ile1367Thr) n.243T>C n.391T>C n.892T>C n.226T>C n.366-61T>C c.3965T>C (p.Ile1322Thr) n.4261T>C | |
2 | g.71611466T>G | CA347228385 | DYSF | c.1475T>G (p.Ile492Ser) c.692T>G (p.Ile231Ser) c.650T>G (p.Ile217Ser) c.4007T>G (p.Ile1336Ser) c.4061T>G (p.Ile1354Ser) c.4010T>G (p.Ile1337Ser) c.4058T>G (p.Ile1353Ser) c.4103T>G (p.Ile1368Ser) c.3968T>G (p.Ile1323Ser) c.4100T>G (p.Ile1367Ser) n.243T>G n.391T>G n.892T>G n.226T>G n.366-61T>G c.3965T>G (p.Ile1322Ser) n.4261T>G | |
2 | g.71611467C>A | CA147755 | DYSF | c.1476C>A (p.Ile492=) c.693C>A (p.Ile231=) c.651C>A (p.Ile217=) c.4008C>A (p.Ile1336=) c.4062C>A (p.Ile1354=) c.4011C>A (p.Ile1337=) c.4059C>A (p.Ile1353=) c.4104C>A (p.Ile1368=) c.3969C>A (p.Ile1323=) c.4101C>A (p.Ile1367=) n.244C>A n.392C>A n.893C>A n.227C>A n.366-60C>A c.3966C>A (p.Ile1322=) n.4262C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611467C= | CA1260124123 | DYSF | c.1476C= (p.Ile492=) c.693C= (p.Ile231=) c.651C= (p.Ile217=) c.4008C= (p.Ile1336=) c.4062C= (p.Ile1354=) c.4011C= (p.Ile1337=) c.4059C= (p.Ile1353=) c.4104C= (p.Ile1368=) c.3969C= (p.Ile1323=) c.4101C= (p.Ile1367=) n.244C= n.392C= n.893C= n.227C= n.366-60C= c.3966C= (p.Ile1322=) n.4262C= | |
2 | g.71611467C>G | CA347228386 | DYSF | c.1476C>G (p.Ile492Met) c.693C>G (p.Ile231Met) c.651C>G (p.Ile217Met) c.4008C>G (p.Ile1336Met) c.4062C>G (p.Ile1354Met) c.4011C>G (p.Ile1337Met) c.4059C>G (p.Ile1353Met) c.4104C>G (p.Ile1368Met) c.3969C>G (p.Ile1323Met) c.4101C>G (p.Ile1367Met) n.244C>G n.392C>G n.893C>G n.227C>G n.366-60C>G c.3966C>G (p.Ile1322Met) n.4262C>G | dbSNP |
2 | g.71611467C>T | CA426758799 | DYSF | c.1476C>T (p.Ile492=) c.693C>T (p.Ile231=) c.651C>T (p.Ile217=) c.4008C>T (p.Ile1336=) c.4062C>T (p.Ile1354=) c.4011C>T (p.Ile1337=) c.4059C>T (p.Ile1353=) c.4104C>T (p.Ile1368=) c.3969C>T (p.Ile1323=) c.4101C>T (p.Ile1367=) n.244C>T n.392C>T n.893C>T n.227C>T n.366-60C>T c.3966C>T (p.Ile1322=) n.4262C>T | gnomAD v4 |
2 | g.71611467_71611469delinsAC | CA2586969505 | DYSF | c.1476_1478delinsAC (p.Leu493ArgfsTer8) c.693_695delinsAC (p.Leu232ArgfsTer8) c.651_653delinsAC (p.Leu218ArgfsTer8) c.4008_4010delinsAC (p.Leu1337ArgfsTer8) c.4062_4064delinsAC (p.Leu1355ArgfsTer8) c.4011_4013delinsAC (p.Leu1338ArgfsTer8) c.4059_4061delinsAC (p.Leu1354ArgfsTer8) c.4104_4106delinsAC (p.Leu1369ArgfsTer8) c.3969_3971delinsAC (p.Leu1324ArgfsTer8) c.4101_4103delinsAC (p.Leu1368ArgfsTer8) n.244_246delinsAC n.392_394delinsAC n.893_895delinsAC n.227_229delinsAC n.366-60_366-58delinsAC c.3966_3968delinsAC (p.Leu1323ArgfsTer8) n.4262_4264delinsAC | |
2 | g.71611468C>A | CA347228387 | DYSF | c.1477C>A (p.Leu493Met) c.694C>A (p.Leu232Met) c.652C>A (p.Leu218Met) c.4009C>A (p.Leu1337Met) c.4063C>A (p.Leu1355Met) c.4012C>A (p.Leu1338Met) c.4060C>A (p.Leu1354Met) c.4105C>A (p.Leu1369Met) c.3970C>A (p.Leu1324Met) c.4102C>A (p.Leu1368Met) n.245C>A n.393C>A n.894C>A n.228C>A n.366-59C>A c.3967C>A (p.Leu1323Met) n.4263C>A | |
2 | g.71611468C>G | CA347228388 | DYSF | c.1477C>G (p.Leu493Val) c.694C>G (p.Leu232Val) c.652C>G (p.Leu218Val) c.4009C>G (p.Leu1337Val) c.4063C>G (p.Leu1355Val) c.4012C>G (p.Leu1338Val) c.4060C>G (p.Leu1354Val) c.4105C>G (p.Leu1369Val) c.3970C>G (p.Leu1324Val) c.4102C>G (p.Leu1368Val) n.245C>G n.393C>G n.894C>G n.228C>G n.366-59C>G c.3967C>G (p.Leu1323Val) n.4263C>G | gnomAD v4 COSMIC COSMIC |
2 | g.71611468C>T | CA426758802 | DYSF | c.1477C>T (p.Leu493=) c.694C>T (p.Leu232=) c.652C>T (p.Leu218=) c.4009C>T (p.Leu1337=) c.4063C>T (p.Leu1355=) c.4012C>T (p.Leu1338=) c.4060C>T (p.Leu1354=) c.4105C>T (p.Leu1369=) c.3970C>T (p.Leu1324=) c.4102C>T (p.Leu1368=) n.245C>T n.393C>T n.894C>T n.228C>T n.366-59C>T c.3967C>T (p.Leu1323=) n.4263C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611469del | CA2573320690 | DYSF | c.1478del (p.Leu493ArgfsTer8) c.695del (p.Leu232ArgfsTer8) c.653del (p.Leu218ArgfsTer8) c.4010del (p.Leu1337ArgfsTer8) c.4064del (p.Leu1355ArgfsTer8) c.4013del (p.Leu1338ArgfsTer8) c.4061del (p.Leu1354ArgfsTer8) c.4106del (p.Leu1369ArgfsTer8) c.3971del (p.Leu1324ArgfsTer8) c.4103del (p.Leu1368ArgfsTer8) n.246del n.394del n.895del n.229del n.366-58del c.3968del (p.Leu1323ArgfsTer8) n.4264del | |
2 | g.71611469T>A | CA347228389 | DYSF | c.1478T>A (p.Leu493Gln) c.695T>A (p.Leu232Gln) c.653T>A (p.Leu218Gln) c.4010T>A (p.Leu1337Gln) c.4064T>A (p.Leu1355Gln) c.4013T>A (p.Leu1338Gln) c.4061T>A (p.Leu1354Gln) c.4106T>A (p.Leu1369Gln) c.3971T>A (p.Leu1324Gln) c.4103T>A (p.Leu1368Gln) n.246T>A n.394T>A n.895T>A n.229T>A n.366-58T>A c.3968T>A (p.Leu1323Gln) n.4264T>A | |
2 | g.71611469T>C | CA347228390 | DYSF | c.1478T>C (p.Leu493Pro) c.695T>C (p.Leu232Pro) c.653T>C (p.Leu218Pro) c.4010T>C (p.Leu1337Pro) c.4064T>C (p.Leu1355Pro) c.4013T>C (p.Leu1338Pro) c.4061T>C (p.Leu1354Pro) c.4106T>C (p.Leu1369Pro) c.3971T>C (p.Leu1324Pro) c.4103T>C (p.Leu1368Pro) n.246T>C n.394T>C n.895T>C n.229T>C n.366-58T>C c.3968T>C (p.Leu1323Pro) n.4264T>C | |
2 | g.71611469T>G | CA347228391 | DYSF | c.1478T>G (p.Leu493Arg) c.695T>G (p.Leu232Arg) c.653T>G (p.Leu218Arg) c.4010T>G (p.Leu1337Arg) c.4064T>G (p.Leu1355Arg) c.4013T>G (p.Leu1338Arg) c.4061T>G (p.Leu1354Arg) c.4106T>G (p.Leu1369Arg) c.3971T>G (p.Leu1324Arg) c.4103T>G (p.Leu1368Arg) n.246T>G n.394T>G n.895T>G n.229T>G n.366-58T>G c.3968T>G (p.Leu1323Arg) n.4264T>G | |
2 | g.71611470G>A | CA426758807 | DYSF | c.1479G>A (p.Leu493=) c.696G>A (p.Leu232=) c.654G>A (p.Leu218=) c.4011G>A (p.Leu1337=) c.4065G>A (p.Leu1355=) c.4014G>A (p.Leu1338=) c.4062G>A (p.Leu1354=) c.4107G>A (p.Leu1369=) c.3972G>A (p.Leu1324=) c.4104G>A (p.Leu1368=) n.247G>A n.395G>A n.896G>A n.230G>A n.366-57G>A c.3969G>A (p.Leu1323=) n.4265G>A | |
2 | g.71611470G>C | CA426758805 | DYSF | c.1479G>C (p.Leu493=) c.696G>C (p.Leu232=) c.654G>C (p.Leu218=) c.4011G>C (p.Leu1337=) c.4065G>C (p.Leu1355=) c.4014G>C (p.Leu1338=) c.4062G>C (p.Leu1354=) c.4107G>C (p.Leu1369=) c.3972G>C (p.Leu1324=) c.4104G>C (p.Leu1368=) n.247G>C n.395G>C n.896G>C n.230G>C n.366-57G>C c.3969G>C (p.Leu1323=) n.4265G>C | |
2 | g.71611470G>T | CA426758803 | DYSF | c.1479G>T (p.Leu493=) c.696G>T (p.Leu232=) c.654G>T (p.Leu218=) c.4011G>T (p.Leu1337=) c.4065G>T (p.Leu1355=) c.4014G>T (p.Leu1338=) c.4062G>T (p.Leu1354=) c.4107G>T (p.Leu1369=) c.3972G>T (p.Leu1324=) c.4104G>T (p.Leu1368=) n.247G>T n.395G>T n.896G>T n.230G>T n.366-57G>T c.3969G>T (p.Leu1323=) n.4265G>T | |
2 | g.71611471del | CA2586969506 | DYSF | c.1480del (p.Ala494HisfsTer7) c.697del (p.Ala233HisfsTer7) c.655del (p.Ala219HisfsTer7) c.4012del (p.Ala1338HisfsTer7) c.4066del (p.Ala1356HisfsTer7) c.4015del (p.Ala1339HisfsTer7) c.4063del (p.Ala1355HisfsTer7) c.4108del (p.Ala1370HisfsTer7) c.3973del (p.Ala1325HisfsTer7) c.4105del (p.Ala1369HisfsTer7) n.248del n.396del n.897del n.231del n.366-56del c.3970del (p.Ala1324HisfsTer7) n.4266del | |
2 | g.71611471G>A | CA347228394 | DYSF | c.1480G>A (p.Ala494Thr) c.697G>A (p.Ala233Thr) c.655G>A (p.Ala219Thr) c.4012G>A (p.Ala1338Thr) c.4066G>A (p.Ala1356Thr) c.4015G>A (p.Ala1339Thr) c.4063G>A (p.Ala1355Thr) c.4108G>A (p.Ala1370Thr) c.3973G>A (p.Ala1325Thr) c.4105G>A (p.Ala1369Thr) n.248G>A n.396G>A n.897G>A n.231G>A n.366-56G>A c.3970G>A (p.Ala1324Thr) n.4266G>A | |
2 | g.71611471G>C | CA347228392 | DYSF | c.1480G>C (p.Ala494Pro) c.697G>C (p.Ala233Pro) c.655G>C (p.Ala219Pro) c.4012G>C (p.Ala1338Pro) c.4066G>C (p.Ala1356Pro) c.4015G>C (p.Ala1339Pro) c.4063G>C (p.Ala1355Pro) c.4108G>C (p.Ala1370Pro) c.3973G>C (p.Ala1325Pro) c.4105G>C (p.Ala1369Pro) n.248G>C n.396G>C n.897G>C n.231G>C n.366-56G>C c.3970G>C (p.Ala1324Pro) n.4266G>C | |
2 | g.71611471G>T | CA347228393 | DYSF | c.1480G>T (p.Ala494Ser) c.697G>T (p.Ala233Ser) c.655G>T (p.Ala219Ser) c.4012G>T (p.Ala1338Ser) c.4066G>T (p.Ala1356Ser) c.4015G>T (p.Ala1339Ser) c.4063G>T (p.Ala1355Ser) c.4108G>T (p.Ala1370Ser) c.3973G>T (p.Ala1325Ser) c.4105G>T (p.Ala1369Ser) n.248G>T n.396G>T n.897G>T n.231G>T n.366-56G>T c.3970G>T (p.Ala1324Ser) n.4266G>T | |
2 | g.71611472C>A | CA347228395 | DYSF | c.1481C>A (p.Ala494Glu) c.698C>A (p.Ala233Glu) c.656C>A (p.Ala219Glu) c.4013C>A (p.Ala1338Glu) c.4067C>A (p.Ala1356Glu) c.4016C>A (p.Ala1339Glu) c.4064C>A (p.Ala1355Glu) c.4109C>A (p.Ala1370Glu) c.3974C>A (p.Ala1325Glu) c.4106C>A (p.Ala1369Glu) n.249C>A n.397C>A n.898C>A n.232C>A n.366-55C>A c.3971C>A (p.Ala1324Glu) n.4267C>A | |
2 | g.71611472C= | CA1260124124 | DYSF | c.1481C= (p.Ala494=) c.698C= (p.Ala233=) c.656C= (p.Ala219=) c.4013C= (p.Ala1338=) c.4067C= (p.Ala1356=) c.4016C= (p.Ala1339=) c.4064C= (p.Ala1355=) c.4109C= (p.Ala1370=) c.3974C= (p.Ala1325=) c.4106C= (p.Ala1369=) n.249C= n.397C= n.898C= n.232C= n.366-55C= c.3971C= (p.Ala1324=) n.4267C= | |
2 | g.71611472C>G | CA347228396 | DYSF | c.1481C>G (p.Ala494Gly) c.698C>G (p.Ala233Gly) c.656C>G (p.Ala219Gly) c.4013C>G (p.Ala1338Gly) c.4067C>G (p.Ala1356Gly) c.4016C>G (p.Ala1339Gly) c.4064C>G (p.Ala1355Gly) c.4109C>G (p.Ala1370Gly) c.3974C>G (p.Ala1325Gly) c.4106C>G (p.Ala1369Gly) n.249C>G n.397C>G n.898C>G n.232C>G n.366-55C>G c.3971C>G (p.Ala1324Gly) n.4267C>G | |
2 | g.71611472C>T | CA347228397 | DYSF | c.1481C>T (p.Ala494Val) c.698C>T (p.Ala233Val) c.656C>T (p.Ala219Val) c.4013C>T (p.Ala1338Val) c.4067C>T (p.Ala1356Val) c.4016C>T (p.Ala1339Val) c.4064C>T (p.Ala1355Val) c.4109C>T (p.Ala1370Val) c.3974C>T (p.Ala1325Val) c.4106C>T (p.Ala1369Val) n.249C>T n.397C>T n.898C>T n.232C>T n.366-55C>T c.3971C>T (p.Ala1324Val) n.4267C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611473A= | CA1260124125 | DYSF | c.1482A= (p.Ala494=) c.699A= (p.Ala233=) c.657A= (p.Ala219=) c.4014A= (p.Ala1338=) c.4068A= (p.Ala1356=) c.4017A= (p.Ala1339=) c.4065A= (p.Ala1355=) c.4110A= (p.Ala1370=) c.3975A= (p.Ala1325=) c.4107A= (p.Ala1369=) n.250A= n.398A= n.899A= n.233A= n.366-54A= c.3972A= (p.Ala1324=) n.4268A= | |
2 | g.71611473A>C | CA426758813 | DYSF | c.1482A>C (p.Ala494=) c.699A>C (p.Ala233=) c.657A>C (p.Ala219=) c.4014A>C (p.Ala1338=) c.4068A>C (p.Ala1356=) c.4017A>C (p.Ala1339=) c.4065A>C (p.Ala1355=) c.4110A>C (p.Ala1370=) c.3975A>C (p.Ala1325=) c.4107A>C (p.Ala1369=) n.250A>C n.398A>C n.899A>C n.233A>C n.366-54A>C c.3972A>C (p.Ala1324=) n.4268A>C | |
2 | g.71611473A>G | CA426758812 | DYSF | c.1482A>G (p.Ala494=) c.699A>G (p.Ala233=) c.657A>G (p.Ala219=) c.4014A>G (p.Ala1338=) c.4068A>G (p.Ala1356=) c.4017A>G (p.Ala1339=) c.4065A>G (p.Ala1355=) c.4110A>G (p.Ala1370=) c.3975A>G (p.Ala1325=) c.4107A>G (p.Ala1369=) n.250A>G n.398A>G n.899A>G n.233A>G n.366-54A>G c.3972A>G (p.Ala1324=) n.4268A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611473A>T | CA426758811 | DYSF | c.1482A>T (p.Ala494=) c.699A>T (p.Ala233=) c.657A>T (p.Ala219=) c.4014A>T (p.Ala1338=) c.4068A>T (p.Ala1356=) c.4017A>T (p.Ala1339=) c.4065A>T (p.Ala1355=) c.4110A>T (p.Ala1370=) c.3975A>T (p.Ala1325=) c.4107A>T (p.Ala1369=) n.250A>T n.398A>T n.899A>T n.233A>T n.366-54A>T c.3972A>T (p.Ala1324=) n.4268A>T | |
2 | g.71611474T>A | CA347228398 | DYSF | c.1483T>A (p.Trp495Arg) c.700T>A (p.Trp234Arg) c.658T>A (p.Trp220Arg) c.4015T>A (p.Trp1339Arg) c.4069T>A (p.Trp1357Arg) c.4018T>A (p.Trp1340Arg) c.4066T>A (p.Trp1356Arg) c.4111T>A (p.Trp1371Arg) c.3976T>A (p.Trp1326Arg) c.4108T>A (p.Trp1370Arg) n.251T>A n.399T>A n.900T>A n.234T>A n.366-53T>A c.3973T>A (p.Trp1325Arg) n.4269T>A | |
2 | g.71611474T>C | CA1706887 | DYSF | c.1483T>C (p.Trp495Arg) c.700T>C (p.Trp234Arg) c.658T>C (p.Trp220Arg) c.4015T>C (p.Trp1339Arg) c.4069T>C (p.Trp1357Arg) c.4018T>C (p.Trp1340Arg) c.4066T>C (p.Trp1356Arg) c.4111T>C (p.Trp1371Arg) c.3976T>C (p.Trp1326Arg) c.4108T>C (p.Trp1370Arg) n.251T>C n.399T>C n.900T>C n.234T>C n.366-53T>C c.3973T>C (p.Trp1325Arg) n.4269T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611474T>G | CA347228399 | DYSF | c.1483T>G (p.Trp495Gly) c.700T>G (p.Trp234Gly) c.658T>G (p.Trp220Gly) c.4015T>G (p.Trp1339Gly) c.4069T>G (p.Trp1357Gly) c.4018T>G (p.Trp1340Gly) c.4066T>G (p.Trp1356Gly) c.4111T>G (p.Trp1371Gly) c.3976T>G (p.Trp1326Gly) c.4108T>G (p.Trp1370Gly) n.251T>G n.399T>G n.900T>G n.234T>G n.366-53T>G c.3973T>G (p.Trp1325Gly) n.4269T>G | |
2 | g.71611474T= | CA1260124126 | DYSF | c.1483T= (p.Trp495=) c.700T= (p.Trp234=) c.658T= (p.Trp220=) c.4015T= (p.Trp1339=) c.4069T= (p.Trp1357=) c.4018T= (p.Trp1340=) c.4066T= (p.Trp1356=) c.4111T= (p.Trp1371=) c.3976T= (p.Trp1326=) c.4108T= (p.Trp1370=) n.251T= n.399T= n.900T= n.234T= n.366-53T= c.3973T= (p.Trp1325=) n.4269T= | |
2 | g.71611475G>A | CA347228400 | DYSF | c.1484G>A (p.Trp495Ter) c.701G>A (p.Trp234Ter) c.659G>A (p.Trp220Ter) c.4016G>A (p.Trp1339Ter) c.4070G>A (p.Trp1357Ter) c.4019G>A (p.Trp1340Ter) c.4067G>A (p.Trp1356Ter) c.4112G>A (p.Trp1371Ter) c.3977G>A (p.Trp1326Ter) c.4109G>A (p.Trp1370Ter) n.252G>A n.400G>A n.901G>A n.235G>A n.366-52G>A c.3974G>A (p.Trp1325Ter) n.4270G>A | |
2 | g.71611475G>C | CA347228401 | DYSF | c.1484G>C (p.Trp495Ser) c.701G>C (p.Trp234Ser) c.659G>C (p.Trp220Ser) c.4016G>C (p.Trp1339Ser) c.4070G>C (p.Trp1357Ser) c.4019G>C (p.Trp1340Ser) c.4067G>C (p.Trp1356Ser) c.4112G>C (p.Trp1371Ser) c.3977G>C (p.Trp1326Ser) c.4109G>C (p.Trp1370Ser) n.252G>C n.400G>C n.901G>C n.235G>C n.366-52G>C c.3974G>C (p.Trp1325Ser) n.4270G>C | |
2 | g.71611475G>T | CA347228402 | DYSF | c.1484G>T (p.Trp495Leu) c.701G>T (p.Trp234Leu) c.659G>T (p.Trp220Leu) c.4016G>T (p.Trp1339Leu) c.4070G>T (p.Trp1357Leu) c.4019G>T (p.Trp1340Leu) c.4067G>T (p.Trp1356Leu) c.4112G>T (p.Trp1371Leu) c.3977G>T (p.Trp1326Leu) c.4109G>T (p.Trp1370Leu) n.252G>T n.400G>T n.901G>T n.235G>T n.366-52G>T c.3974G>T (p.Trp1325Leu) n.4270G>T | |
2 | g.71611476G>A | CA347228403 | DYSF | c.1485G>A (p.Trp495Ter) c.702G>A (p.Trp234Ter) c.660G>A (p.Trp220Ter) c.4017G>A (p.Trp1339Ter) c.4071G>A (p.Trp1357Ter) c.4020G>A (p.Trp1340Ter) c.4068G>A (p.Trp1356Ter) c.4113G>A (p.Trp1371Ter) c.3978G>A (p.Trp1326Ter) c.4110G>A (p.Trp1370Ter) n.253G>A n.401G>A n.902G>A n.236G>A n.366-51G>A c.3975G>A (p.Trp1325Ter) n.4271G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611476G>C | CA347228404 | DYSF | c.1485G>C (p.Trp495Cys) c.702G>C (p.Trp234Cys) c.660G>C (p.Trp220Cys) c.4017G>C (p.Trp1339Cys) c.4071G>C (p.Trp1357Cys) c.4020G>C (p.Trp1340Cys) c.4068G>C (p.Trp1356Cys) c.4113G>C (p.Trp1371Cys) c.3978G>C (p.Trp1326Cys) c.4110G>C (p.Trp1370Cys) n.253G>C n.401G>C n.902G>C n.236G>C n.366-51G>C c.3975G>C (p.Trp1325Cys) n.4271G>C | gnomAD v4 |
2 | g.71611476G= | CA1260124127 | DYSF | c.1485G= (p.Trp495=) c.702G= (p.Trp234=) c.660G= (p.Trp220=) c.4017G= (p.Trp1339=) c.4071G= (p.Trp1357=) c.4020G= (p.Trp1340=) c.4068G= (p.Trp1356=) c.4113G= (p.Trp1371=) c.3978G= (p.Trp1326=) c.4110G= (p.Trp1370=) n.253G= n.401G= n.902G= n.236G= n.366-51G= c.3975G= (p.Trp1325=) n.4271G= | |
2 | g.71611476G>T | CA347228405 | DYSF | c.1485G>T (p.Trp495Cys) c.702G>T (p.Trp234Cys) c.660G>T (p.Trp220Cys) c.4017G>T (p.Trp1339Cys) c.4071G>T (p.Trp1357Cys) c.4020G>T (p.Trp1340Cys) c.4068G>T (p.Trp1356Cys) c.4113G>T (p.Trp1371Cys) c.3978G>T (p.Trp1326Cys) c.4110G>T (p.Trp1370Cys) n.253G>T n.401G>T n.902G>T n.236G>T n.366-51G>T c.3975G>T (p.Trp1325Cys) n.4271G>T | |
2 | g.71611477G>A | CA347228407 | DYSF | c.1486G>A (p.Gly496Ser) c.703G>A (p.Gly235Ser) c.661G>A (p.Gly221Ser) c.4018G>A (p.Gly1340Ser) c.4072G>A (p.Gly1358Ser) c.4021G>A (p.Gly1341Ser) c.4069G>A (p.Gly1357Ser) c.4114G>A (p.Gly1372Ser) c.3979G>A (p.Gly1327Ser) c.4111G>A (p.Gly1371Ser) n.254G>A n.402G>A n.903G>A n.237G>A n.366-50G>A c.3976G>A (p.Gly1326Ser) n.4272G>A | gnomAD v4 |
2 | g.71611477G>C | CA347228408 | DYSF | c.1486G>C (p.Gly496Arg) c.703G>C (p.Gly235Arg) c.661G>C (p.Gly221Arg) c.4018G>C (p.Gly1340Arg) c.4072G>C (p.Gly1358Arg) c.4021G>C (p.Gly1341Arg) c.4069G>C (p.Gly1357Arg) c.4114G>C (p.Gly1372Arg) c.3979G>C (p.Gly1327Arg) c.4111G>C (p.Gly1371Arg) n.254G>C n.402G>C n.903G>C n.237G>C n.366-50G>C c.3976G>C (p.Gly1326Arg) n.4272G>C | |
2 | g.71611477G>T | CA347228406 | DYSF | c.1486G>T (p.Gly496Cys) c.703G>T (p.Gly235Cys) c.661G>T (p.Gly221Cys) c.4018G>T (p.Gly1340Cys) c.4072G>T (p.Gly1358Cys) c.4021G>T (p.Gly1341Cys) c.4069G>T (p.Gly1357Cys) c.4114G>T (p.Gly1372Cys) c.3979G>T (p.Gly1327Cys) c.4111G>T (p.Gly1371Cys) n.254G>T n.402G>T n.903G>T n.237G>T n.366-50G>T c.3976G>T (p.Gly1326Cys) n.4272G>T | |
2 | g.71611478G>A | CA347228409 | DYSF | c.1487G>A (p.Gly496Asp) c.704G>A (p.Gly235Asp) c.662G>A (p.Gly221Asp) c.4019G>A (p.Gly1340Asp) c.4073G>A (p.Gly1358Asp) c.4022G>A (p.Gly1341Asp) c.4070G>A (p.Gly1357Asp) c.4115G>A (p.Gly1372Asp) c.3980G>A (p.Gly1327Asp) c.4112G>A (p.Gly1371Asp) n.255G>A n.403G>A n.904G>A n.238G>A n.366-49G>A c.3977G>A (p.Gly1326Asp) n.4273G>A | |
2 | g.71611478G>C | CA347228410 | DYSF | c.1487G>C (p.Gly496Ala) c.704G>C (p.Gly235Ala) c.662G>C (p.Gly221Ala) c.4019G>C (p.Gly1340Ala) c.4073G>C (p.Gly1358Ala) c.4022G>C (p.Gly1341Ala) c.4070G>C (p.Gly1357Ala) c.4115G>C (p.Gly1372Ala) c.3980G>C (p.Gly1327Ala) c.4112G>C (p.Gly1371Ala) n.255G>C n.403G>C n.904G>C n.238G>C n.366-49G>C c.3977G>C (p.Gly1326Ala) n.4273G>C | |
2 | g.71611478G>T | CA347228411 | DYSF | c.1487G>T (p.Gly496Val) c.704G>T (p.Gly235Val) c.662G>T (p.Gly221Val) c.4019G>T (p.Gly1340Val) c.4073G>T (p.Gly1358Val) c.4022G>T (p.Gly1341Val) c.4070G>T (p.Gly1357Val) c.4115G>T (p.Gly1372Val) c.3980G>T (p.Gly1327Val) c.4112G>T (p.Gly1371Val) n.255G>T n.403G>T n.904G>T n.238G>T n.366-49G>T c.3977G>T (p.Gly1326Val) n.4273G>T | |
2 | g.71611479C>A | CA426758819 | DYSF | c.1488C>A (p.Gly496=) c.705C>A (p.Gly235=) c.663C>A (p.Gly221=) c.4020C>A (p.Gly1340=) c.4074C>A (p.Gly1358=) c.4023C>A (p.Gly1341=) c.4071C>A (p.Gly1357=) c.4116C>A (p.Gly1372=) c.3981C>A (p.Gly1327=) c.4113C>A (p.Gly1371=) n.256C>A n.404C>A n.905C>A n.239C>A n.366-48C>A c.3978C>A (p.Gly1326=) n.4274C>A | |
2 | g.71611479C= | CA1260124128 | DYSF | c.1488C= (p.Gly496=) c.705C= (p.Gly235=) c.663C= (p.Gly221=) c.4020C= (p.Gly1340=) c.4074C= (p.Gly1358=) c.4023C= (p.Gly1341=) c.4071C= (p.Gly1357=) c.4116C= (p.Gly1372=) c.3981C= (p.Gly1327=) c.4113C= (p.Gly1371=) n.256C= n.404C= n.905C= n.239C= n.366-48C= c.3978C= (p.Gly1326=) n.4274C= | |
2 | g.71611479C>G | CA426758820 | DYSF | c.1488C>G (p.Gly496=) c.705C>G (p.Gly235=) c.663C>G (p.Gly221=) c.4020C>G (p.Gly1340=) c.4074C>G (p.Gly1358=) c.4023C>G (p.Gly1341=) c.4071C>G (p.Gly1357=) c.4116C>G (p.Gly1372=) c.3981C>G (p.Gly1327=) c.4113C>G (p.Gly1371=) n.256C>G n.404C>G n.905C>G n.239C>G n.366-48C>G c.3978C>G (p.Gly1326=) n.4274C>G | |
2 | g.71611479C>T | CA426758821 | DYSF | c.1488C>T (p.Gly496=) c.705C>T (p.Gly235=) c.663C>T (p.Gly221=) c.4020C>T (p.Gly1340=) c.4074C>T (p.Gly1358=) c.4023C>T (p.Gly1341=) c.4071C>T (p.Gly1357=) c.4116C>T (p.Gly1372=) c.3981C>T (p.Gly1327=) c.4113C>T (p.Gly1371=) n.256C>T n.404C>T n.905C>T n.239C>T n.366-48C>T c.3978C>T (p.Gly1326=) n.4274C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611480C>A | CA347228412 | DYSF | c.1489C>A (p.Leu497Met) c.706C>A (p.Leu236Met) c.664C>A (p.Leu222Met) c.4021C>A (p.Leu1341Met) c.4075C>A (p.Leu1359Met) c.4024C>A (p.Leu1342Met) c.4072C>A (p.Leu1358Met) c.4117C>A (p.Leu1373Met) c.3982C>A (p.Leu1328Met) c.4114C>A (p.Leu1372Met) n.257C>A n.405C>A n.906C>A n.240C>A n.366-47C>A c.3979C>A (p.Leu1327Met) n.4275C>A | COSMIC COSMIC |
2 | g.71611480C>G | CA347228413 | DYSF | c.1489C>G (p.Leu497Val) c.706C>G (p.Leu236Val) c.664C>G (p.Leu222Val) c.4021C>G (p.Leu1341Val) c.4075C>G (p.Leu1359Val) c.4024C>G (p.Leu1342Val) c.4072C>G (p.Leu1358Val) c.4117C>G (p.Leu1373Val) c.3982C>G (p.Leu1328Val) c.4114C>G (p.Leu1372Val) n.257C>G n.405C>G n.906C>G n.240C>G n.366-47C>G c.3979C>G (p.Leu1327Val) n.4275C>G | |
2 | g.71611480C>T | CA426758822 | DYSF | c.1489C>T (p.Leu497=) c.706C>T (p.Leu236=) c.664C>T (p.Leu222=) c.4021C>T (p.Leu1341=) c.4075C>T (p.Leu1359=) c.4024C>T (p.Leu1342=) c.4072C>T (p.Leu1358=) c.4117C>T (p.Leu1373=) c.3982C>T (p.Leu1328=) c.4114C>T (p.Leu1372=) n.257C>T n.405C>T n.906C>T n.240C>T n.366-47C>T c.3979C>T (p.Leu1327=) n.4275C>T | COSMIC COSMIC |
2 | g.71611481T>A | CA347228414 | DYSF | c.1490T>A (p.Leu497Gln) c.707T>A (p.Leu236Gln) c.665T>A (p.Leu222Gln) c.4022T>A (p.Leu1341Gln) c.4076T>A (p.Leu1359Gln) c.4025T>A (p.Leu1342Gln) c.4073T>A (p.Leu1358Gln) c.4118T>A (p.Leu1373Gln) c.3983T>A (p.Leu1328Gln) c.4115T>A (p.Leu1372Gln) n.258T>A n.406T>A n.907T>A n.241T>A n.366-46T>A c.3980T>A (p.Leu1327Gln) n.4276T>A | |
2 | g.71611481T>C | CA1706888 | DYSF | c.1490T>C (p.Leu497Pro) c.707T>C (p.Leu236Pro) c.665T>C (p.Leu222Pro) c.4022T>C (p.Leu1341Pro) c.4076T>C (p.Leu1359Pro) c.4025T>C (p.Leu1342Pro) c.4073T>C (p.Leu1358Pro) c.4118T>C (p.Leu1373Pro) c.3983T>C (p.Leu1328Pro) c.4115T>C (p.Leu1372Pro) n.258T>C n.406T>C n.907T>C n.241T>C n.366-46T>C c.3980T>C (p.Leu1327Pro) n.4276T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611481T>G | CA347228415 | DYSF | c.1490T>G (p.Leu497Arg) c.707T>G (p.Leu236Arg) c.665T>G (p.Leu222Arg) c.4022T>G (p.Leu1341Arg) c.4076T>G (p.Leu1359Arg) c.4025T>G (p.Leu1342Arg) c.4073T>G (p.Leu1358Arg) c.4118T>G (p.Leu1373Arg) c.3983T>G (p.Leu1328Arg) c.4115T>G (p.Leu1372Arg) n.258T>G n.406T>G n.907T>G n.241T>G n.366-46T>G c.3980T>G (p.Leu1327Arg) n.4276T>G | |
2 | g.71611481T= | CA1260124129 | DYSF | c.1490T= (p.Leu497=) c.707T= (p.Leu236=) c.665T= (p.Leu222=) c.4022T= (p.Leu1341=) c.4076T= (p.Leu1359=) c.4025T= (p.Leu1342=) c.4073T= (p.Leu1358=) c.4118T= (p.Leu1373=) c.3983T= (p.Leu1328=) c.4115T= (p.Leu1372=) n.258T= n.406T= n.907T= n.241T= n.366-46T= c.3980T= (p.Leu1327=) n.4276T= | |
2 | g.71611482G>A | CA426758824 | DYSF | c.1491G>A (p.Leu497=) c.708G>A (p.Leu236=) c.666G>A (p.Leu222=) c.4023G>A (p.Leu1341=) c.4077G>A (p.Leu1359=) c.4026G>A (p.Leu1342=) c.4074G>A (p.Leu1358=) c.4119G>A (p.Leu1373=) c.3984G>A (p.Leu1328=) c.4116G>A (p.Leu1372=) n.259G>A n.407G>A n.908G>A n.242G>A n.366-45G>A c.3981G>A (p.Leu1327=) n.4277G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71611482G>C | CA426758825 | DYSF | c.1491G>C (p.Leu497=) c.708G>C (p.Leu236=) c.666G>C (p.Leu222=) c.4023G>C (p.Leu1341=) c.4077G>C (p.Leu1359=) c.4026G>C (p.Leu1342=) c.4074G>C (p.Leu1358=) c.4119G>C (p.Leu1373=) c.3984G>C (p.Leu1328=) c.4116G>C (p.Leu1372=) n.259G>C n.407G>C n.908G>C n.242G>C n.366-45G>C c.3981G>C (p.Leu1327=) n.4277G>C | |
2 | g.71611482G= | CA1260124130 | DYSF | c.1491G= (p.Leu497=) c.708G= (p.Leu236=) c.666G= (p.Leu222=) c.4023G= (p.Leu1341=) c.4077G= (p.Leu1359=) c.4026G= (p.Leu1342=) c.4074G= (p.Leu1358=) c.4119G= (p.Leu1373=) c.3984G= (p.Leu1328=) c.4116G= (p.Leu1372=) n.259G= n.407G= n.908G= n.242G= n.366-45G= c.3981G= (p.Leu1327=) n.4277G= | |
2 | g.71611482G>T | CA426758828 | DYSF | c.1491G>T (p.Leu497=) c.708G>T (p.Leu236=) c.666G>T (p.Leu222=) c.4023G>T (p.Leu1341=) c.4077G>T (p.Leu1359=) c.4026G>T (p.Leu1342=) c.4074G>T (p.Leu1358=) c.4119G>T (p.Leu1373=) c.3984G>T (p.Leu1328=) c.4116G>T (p.Leu1372=) n.259G>T n.407G>T n.908G>T n.242G>T n.366-45G>T c.3981G>T (p.Leu1327=) n.4277G>T | |
2 | g.71611483C>A | CA426758831 | DYSF | c.1492C>A (p.Arg498=) c.709C>A (p.Arg237=) c.667C>A (p.Arg223=) c.4024C>A (p.Arg1342=) c.4078C>A (p.Arg1360=) c.4027C>A (p.Arg1343=) c.4075C>A (p.Arg1359=) c.4120C>A (p.Arg1374=) c.3985C>A (p.Arg1329=) c.4117C>A (p.Arg1373=) n.260C>A n.408C>A n.909C>A n.243C>A n.366-44C>A c.3982C>A (p.Arg1328=) n.4278C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611483C= | CA1260124131 | DYSF | c.1492C= (p.Arg498=) c.709C= (p.Arg237=) c.667C= (p.Arg223=) c.4024C= (p.Arg1342=) c.4078C= (p.Arg1360=) c.4027C= (p.Arg1343=) c.4075C= (p.Arg1359=) c.4120C= (p.Arg1374=) c.3985C= (p.Arg1329=) c.4117C= (p.Arg1373=) n.260C= n.408C= n.909C= n.243C= n.366-44C= c.3982C= (p.Arg1328=) n.4278C= | |
2 | g.71611483C>G | CA347228416 | DYSF | c.1492C>G (p.Arg498Gly) c.709C>G (p.Arg237Gly) c.667C>G (p.Arg223Gly) c.4024C>G (p.Arg1342Gly) c.4078C>G (p.Arg1360Gly) c.4027C>G (p.Arg1343Gly) c.4075C>G (p.Arg1359Gly) c.4120C>G (p.Arg1374Gly) c.3985C>G (p.Arg1329Gly) c.4117C>G (p.Arg1373Gly) n.260C>G n.408C>G n.909C>G n.243C>G n.366-44C>G c.3982C>G (p.Arg1328Gly) n.4278C>G | ClinVar gnomAD v4 |
2 | g.71611483C>T | CA1706889 | DYSF | c.1492C>T (p.Arg498Trp) c.709C>T (p.Arg237Trp) c.667C>T (p.Arg223Trp) c.4024C>T (p.Arg1342Trp) c.4078C>T (p.Arg1360Trp) c.4027C>T (p.Arg1343Trp) c.4075C>T (p.Arg1359Trp) c.4120C>T (p.Arg1374Trp) c.3985C>T (p.Arg1329Trp) c.4117C>T (p.Arg1373Trp) n.260C>T n.408C>T n.909C>T n.243C>T n.366-44C>T c.3982C>T (p.Arg1328Trp) n.4278C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611484G>A | CA1706890 | DYSF | c.1493G>A (p.Arg498Gln) c.710G>A (p.Arg237Gln) c.668G>A (p.Arg223Gln) c.4025G>A (p.Arg1342Gln) c.4079G>A (p.Arg1360Gln) c.4028G>A (p.Arg1343Gln) c.4076G>A (p.Arg1359Gln) c.4121G>A (p.Arg1374Gln) c.3986G>A (p.Arg1329Gln) c.4118G>A (p.Arg1373Gln) n.261G>A n.409G>A n.910G>A n.244G>A n.366-43G>A c.3983G>A (p.Arg1328Gln) n.4279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71611484G>C | CA347228417 | DYSF | c.1493G>C (p.Arg498Pro) c.710G>C (p.Arg237Pro) c.668G>C (p.Arg223Pro) c.4025G>C (p.Arg1342Pro) c.4079G>C (p.Arg1360Pro) c.4028G>C (p.Arg1343Pro) c.4076G>C (p.Arg1359Pro) c.4121G>C (p.Arg1374Pro) c.3986G>C (p.Arg1329Pro) c.4118G>C (p.Arg1373Pro) n.261G>C n.409G>C n.910G>C n.244G>C n.366-43G>C c.3983G>C (p.Arg1328Pro) n.4279G>C | |
2 | g.71611484G= | CA1260124132 | DYSF | c.1493G= (p.Arg498=) c.710G= (p.Arg237=) c.668G= (p.Arg223=) c.4025G= (p.Arg1342=) c.4079G= (p.Arg1360=) c.4028G= (p.Arg1343=) c.4076G= (p.Arg1359=) c.4121G= (p.Arg1374=) c.3986G= (p.Arg1329=) c.4118G= (p.Arg1373=) n.261G= n.409G= n.910G= n.244G= n.366-43G= c.3983G= (p.Arg1328=) n.4279G= | |
2 | g.71611484G>T | CA347228418 | DYSF | c.1493G>T (p.Arg498Leu) c.710G>T (p.Arg237Leu) c.668G>T (p.Arg223Leu) c.4025G>T (p.Arg1342Leu) c.4079G>T (p.Arg1360Leu) c.4028G>T (p.Arg1343Leu) c.4076G>T (p.Arg1359Leu) c.4121G>T (p.Arg1374Leu) c.3986G>T (p.Arg1329Leu) c.4118G>T (p.Arg1373Leu) n.261G>T n.409G>T n.910G>T n.244G>T n.366-43G>T c.3983G>T (p.Arg1328Leu) n.4279G>T | |
2 | g.71611485G>A | CA426758833 | DYSF | c.1494G>A (p.Arg498=) c.711G>A (p.Arg237=) c.669G>A (p.Arg223=) c.4026G>A (p.Arg1342=) c.4080G>A (p.Arg1360=) c.4029G>A (p.Arg1343=) c.4077G>A (p.Arg1359=) c.4122G>A (p.Arg1374=) c.3987G>A (p.Arg1329=) c.4119G>A (p.Arg1373=) n.262G>A n.410G>A n.911G>A n.245G>A n.366-42G>A c.3984G>A (p.Arg1328=) n.4280G>A | |
2 | g.71611485G>C | CA426758834 | DYSF | c.1494G>C (p.Arg498=) c.711G>C (p.Arg237=) c.669G>C (p.Arg223=) c.4026G>C (p.Arg1342=) c.4080G>C (p.Arg1360=) c.4029G>C (p.Arg1343=) c.4077G>C (p.Arg1359=) c.4122G>C (p.Arg1374=) c.3987G>C (p.Arg1329=) c.4119G>C (p.Arg1373=) n.262G>C n.410G>C n.911G>C n.245G>C n.366-42G>C c.3984G>C (p.Arg1328=) n.4280G>C | |
2 | g.71611485G>T | CA426758836 | DYSF | c.1494G>T (p.Arg498=) c.711G>T (p.Arg237=) c.669G>T (p.Arg223=) c.4026G>T (p.Arg1342=) c.4080G>T (p.Arg1360=) c.4029G>T (p.Arg1343=) c.4077G>T (p.Arg1359=) c.4122G>T (p.Arg1374=) c.3987G>T (p.Arg1329=) c.4119G>T (p.Arg1373=) n.262G>T n.410G>T n.911G>T n.245G>T n.366-42G>T c.3984G>T (p.Arg1328=) n.4280G>T | |
2 | g.71611486A>C | CA347228420 | DYSF | c.1495A>C (p.Asn499His) c.712A>C (p.Asn238His) c.670A>C (p.Asn224His) c.4027A>C (p.Asn1343His) c.4081A>C (p.Asn1361His) c.4030A>C (p.Asn1344His) c.4078A>C (p.Asn1360His) c.4123A>C (p.Asn1375His) c.3988A>C (p.Asn1330His) c.4120A>C (p.Asn1374His) n.263A>C n.411A>C n.912A>C n.246A>C n.366-41A>C c.3985A>C (p.Asn1329His) n.4281A>C | |
2 | g.71611486A>G | CA347228421 | DYSF | c.1495A>G (p.Asn499Asp) c.712A>G (p.Asn238Asp) c.670A>G (p.Asn224Asp) c.4027A>G (p.Asn1343Asp) c.4081A>G (p.Asn1361Asp) c.4030A>G (p.Asn1344Asp) c.4078A>G (p.Asn1360Asp) c.4123A>G (p.Asn1375Asp) c.3988A>G (p.Asn1330Asp) c.4120A>G (p.Asn1374Asp) n.263A>G n.411A>G n.912A>G n.246A>G n.366-41A>G c.3985A>G (p.Asn1329Asp) n.4281A>G | |
2 | g.71611486A>T | CA347228419 | DYSF | c.1495A>T (p.Asn499Tyr) c.712A>T (p.Asn238Tyr) c.670A>T (p.Asn224Tyr) c.4027A>T (p.Asn1343Tyr) c.4081A>T (p.Asn1361Tyr) c.4030A>T (p.Asn1344Tyr) c.4078A>T (p.Asn1360Tyr) c.4123A>T (p.Asn1375Tyr) c.3988A>T (p.Asn1330Tyr) c.4120A>T (p.Asn1374Tyr) n.263A>T n.411A>T n.912A>T n.246A>T n.366-41A>T c.3985A>T (p.Asn1329Tyr) n.4281A>T | |
2 | g.71611487A>C | CA347228422 | DYSF | c.1496A>C (p.Asn499Thr) c.713A>C (p.Asn238Thr) c.671A>C (p.Asn224Thr) c.4028A>C (p.Asn1343Thr) c.4082A>C (p.Asn1361Thr) c.4031A>C (p.Asn1344Thr) c.4079A>C (p.Asn1360Thr) c.4124A>C (p.Asn1375Thr) c.3989A>C (p.Asn1330Thr) c.4121A>C (p.Asn1374Thr) n.264A>C n.412A>C n.913A>C n.247A>C n.366-40A>C c.3986A>C (p.Asn1329Thr) n.4282A>C | |
2 | g.71611487A>G | CA347228423 | DYSF | c.1496A>G (p.Asn499Ser) c.713A>G (p.Asn238Ser) c.671A>G (p.Asn224Ser) c.4028A>G (p.Asn1343Ser) c.4082A>G (p.Asn1361Ser) c.4031A>G (p.Asn1344Ser) c.4079A>G (p.Asn1360Ser) c.4124A>G (p.Asn1375Ser) c.3989A>G (p.Asn1330Ser) c.4121A>G (p.Asn1374Ser) n.264A>G n.412A>G n.913A>G n.247A>G n.366-40A>G c.3986A>G (p.Asn1329Ser) n.4282A>G | |
2 | g.71611487A>T | CA347228424 | DYSF | c.1496A>T (p.Asn499Ile) c.713A>T (p.Asn238Ile) c.671A>T (p.Asn224Ile) c.4028A>T (p.Asn1343Ile) c.4082A>T (p.Asn1361Ile) c.4031A>T (p.Asn1344Ile) c.4079A>T (p.Asn1360Ile) c.4124A>T (p.Asn1375Ile) c.3989A>T (p.Asn1330Ile) c.4121A>T (p.Asn1374Ile) n.264A>T n.412A>T n.913A>T n.247A>T n.366-40A>T c.3986A>T (p.Asn1329Ile) n.4282A>T | |
2 | g.71611488C>A | CA347228425 | DYSF | c.1497C>A (p.Asn499Lys) c.714C>A (p.Asn238Lys) c.672C>A (p.Asn224Lys) c.4029C>A (p.Asn1343Lys) c.4083C>A (p.Asn1361Lys) c.4032C>A (p.Asn1344Lys) c.4080C>A (p.Asn1360Lys) c.4125C>A (p.Asn1375Lys) c.3990C>A (p.Asn1330Lys) c.4122C>A (p.Asn1374Lys) n.265C>A n.413C>A n.914C>A n.248C>A n.366-39C>A c.3987C>A (p.Asn1329Lys) n.4283C>A | gnomAD v4 |
2 | g.71611488C>G | CA347228426 | DYSF | c.1497C>G (p.Asn499Lys) c.714C>G (p.Asn238Lys) c.672C>G (p.Asn224Lys) c.4029C>G (p.Asn1343Lys) c.4083C>G (p.Asn1361Lys) c.4032C>G (p.Asn1344Lys) c.4080C>G (p.Asn1360Lys) c.4125C>G (p.Asn1375Lys) c.3990C>G (p.Asn1330Lys) c.4122C>G (p.Asn1374Lys) n.265C>G n.413C>G n.914C>G n.248C>G n.366-39C>G c.3987C>G (p.Asn1329Lys) n.4283C>G | gnomAD v4 |
2 | g.71611488C>T | CA426758843 | DYSF | c.1497C>T (p.Asn499=) c.714C>T (p.Asn238=) c.672C>T (p.Asn224=) c.4029C>T (p.Asn1343=) c.4083C>T (p.Asn1361=) c.4032C>T (p.Asn1344=) c.4080C>T (p.Asn1360=) c.4125C>T (p.Asn1375=) c.3990C>T (p.Asn1330=) c.4122C>T (p.Asn1374=) n.265C>T n.413C>T n.914C>T n.248C>T n.366-39C>T c.3987C>T (p.Asn1329=) n.4283C>T | gnomAD v4 |
2 | g.71611489A>C | CA347228429 | DYSF | c.1498A>C (p.Met500Leu) c.715A>C (p.Met239Leu) c.673A>C (p.Met225Leu) c.4030A>C (p.Met1344Leu) c.4084A>C (p.Met1362Leu) c.4033A>C (p.Met1345Leu) c.4081A>C (p.Met1361Leu) c.4126A>C (p.Met1376Leu) c.3991A>C (p.Met1331Leu) c.4123A>C (p.Met1375Leu) n.266A>C n.414A>C n.915A>C n.249A>C n.366-38A>C c.3988A>C (p.Met1330Leu) n.4284A>C | |
2 | g.71611489A>G | CA347228428 | DYSF | c.1498A>G (p.Met500Val) c.715A>G (p.Met239Val) c.673A>G (p.Met225Val) c.4030A>G (p.Met1344Val) c.4084A>G (p.Met1362Val) c.4033A>G (p.Met1345Val) c.4081A>G (p.Met1361Val) c.4126A>G (p.Met1376Val) c.3991A>G (p.Met1331Val) c.4123A>G (p.Met1375Val) n.266A>G n.414A>G n.915A>G n.249A>G n.366-38A>G c.3988A>G (p.Met1330Val) n.4284A>G | |
2 | g.71611489A>T | CA347228427 | DYSF | c.1498A>T (p.Met500Leu) c.715A>T (p.Met239Leu) c.673A>T (p.Met225Leu) c.4030A>T (p.Met1344Leu) c.4084A>T (p.Met1362Leu) c.4033A>T (p.Met1345Leu) c.4081A>T (p.Met1361Leu) c.4126A>T (p.Met1376Leu) c.3991A>T (p.Met1331Leu) c.4123A>T (p.Met1375Leu) n.266A>T n.414A>T n.915A>T n.249A>T n.366-38A>T c.3988A>T (p.Met1330Leu) n.4284A>T | |
2 | g.71611490T>A | CA347228430 | DYSF | c.1499T>A (p.Met500Lys) c.716T>A (p.Met239Lys) c.674T>A (p.Met225Lys) c.4031T>A (p.Met1344Lys) c.4085T>A (p.Met1362Lys) c.4034T>A (p.Met1345Lys) c.4082T>A (p.Met1361Lys) c.4127T>A (p.Met1376Lys) c.3992T>A (p.Met1331Lys) c.4124T>A (p.Met1375Lys) n.267T>A n.415T>A n.916T>A n.250T>A n.366-37T>A c.3989T>A (p.Met1330Lys) n.4285T>A | |
2 | g.71611490T>C | CA347228431 | DYSF | c.1499T>C (p.Met500Thr) c.716T>C (p.Met239Thr) c.674T>C (p.Met225Thr) c.4031T>C (p.Met1344Thr) c.4085T>C (p.Met1362Thr) c.4034T>C (p.Met1345Thr) c.4082T>C (p.Met1361Thr) c.4127T>C (p.Met1376Thr) c.3992T>C (p.Met1331Thr) c.4124T>C (p.Met1375Thr) n.267T>C n.415T>C n.916T>C n.250T>C n.366-37T>C c.3989T>C (p.Met1330Thr) n.4285T>C | |
2 | g.71611490T>G | CA347228432 | DYSF | c.1499T>G (p.Met500Arg) c.716T>G (p.Met239Arg) c.674T>G (p.Met225Arg) c.4031T>G (p.Met1344Arg) c.4085T>G (p.Met1362Arg) c.4034T>G (p.Met1345Arg) c.4082T>G (p.Met1361Arg) c.4127T>G (p.Met1376Arg) c.3992T>G (p.Met1331Arg) c.4124T>G (p.Met1375Arg) n.267T>G n.415T>G n.916T>G n.250T>G n.366-37T>G c.3989T>G (p.Met1330Arg) n.4285T>G | |
2 | g.71611491G>A | CA347228433 | DYSF | c.1500G>A (p.Met500Ile) c.717G>A (p.Met239Ile) c.675G>A (p.Met225Ile) c.4032G>A (p.Met1344Ile) c.4086G>A (p.Met1362Ile) c.4035G>A (p.Met1345Ile) c.4083G>A (p.Met1361Ile) c.4128G>A (p.Met1376Ile) c.3993G>A (p.Met1331Ile) c.4125G>A (p.Met1375Ile) n.268G>A n.416G>A n.917G>A n.251G>A n.366-36G>A c.3990G>A (p.Met1330Ile) n.4286G>A | |
2 | g.71611491G>C | CA347228434 | DYSF | c.1500G>C (p.Met500Ile) c.717G>C (p.Met239Ile) c.675G>C (p.Met225Ile) c.4032G>C (p.Met1344Ile) c.4086G>C (p.Met1362Ile) c.4035G>C (p.Met1345Ile) c.4083G>C (p.Met1361Ile) c.4128G>C (p.Met1376Ile) c.3993G>C (p.Met1331Ile) c.4125G>C (p.Met1375Ile) n.268G>C n.416G>C n.917G>C n.251G>C n.366-36G>C c.3990G>C (p.Met1330Ile) n.4286G>C | ClinVar dbSNP gnomAD v4 |
2 | g.71611491G>T | CA347228435 | DYSF | c.1500G>T (p.Met500Ile) c.717G>T (p.Met239Ile) c.675G>T (p.Met225Ile) c.4032G>T (p.Met1344Ile) c.4086G>T (p.Met1362Ile) c.4035G>T (p.Met1345Ile) c.4083G>T (p.Met1361Ile) c.4128G>T (p.Met1376Ile) c.3993G>T (p.Met1331Ile) c.4125G>T (p.Met1375Ile) n.268G>T n.416G>T n.917G>T n.251G>T n.366-36G>T c.3990G>T (p.Met1330Ile) n.4286G>T | gnomAD v4 |
2 | g.71611492A>C | CA347228436 | DYSF | c.1501A>C (p.Lys501Gln) c.718A>C (p.Lys240Gln) c.676A>C (p.Lys226Gln) c.4033A>C (p.Lys1345Gln) c.4087A>C (p.Lys1363Gln) c.4036A>C (p.Lys1346Gln) c.4084A>C (p.Lys1362Gln) c.4129A>C (p.Lys1377Gln) c.3994A>C (p.Lys1332Gln) c.4126A>C (p.Lys1376Gln) n.269A>C n.417A>C n.918A>C n.252A>C n.366-35A>C c.3991A>C (p.Lys1331Gln) n.4287A>C | |
2 | g.71611492A>G | CA347228438 | DYSF | c.1501A>G (p.Lys501Glu) c.718A>G (p.Lys240Glu) c.676A>G (p.Lys226Glu) c.4033A>G (p.Lys1345Glu) c.4087A>G (p.Lys1363Glu) c.4036A>G (p.Lys1346Glu) c.4084A>G (p.Lys1362Glu) c.4129A>G (p.Lys1377Glu) c.3994A>G (p.Lys1332Glu) c.4126A>G (p.Lys1376Glu) n.269A>G n.417A>G n.918A>G n.252A>G n.366-35A>G c.3991A>G (p.Lys1331Glu) n.4287A>G | |
2 | g.71611492A>T | CA347228437 | DYSF | c.1501A>T (p.Lys501Ter) c.718A>T (p.Lys240Ter) c.676A>T (p.Lys226Ter) c.4033A>T (p.Lys1345Ter) c.4087A>T (p.Lys1363Ter) c.4036A>T (p.Lys1346Ter) c.4084A>T (p.Lys1362Ter) c.4129A>T (p.Lys1377Ter) c.3994A>T (p.Lys1332Ter) c.4126A>T (p.Lys1376Ter) n.269A>T n.417A>T n.918A>T n.252A>T n.366-35A>T c.3991A>T (p.Lys1331Ter) n.4287A>T | |
2 | g.71611493A>C | CA347228439 | DYSF | c.1502A>C (p.Lys501Thr) c.719A>C (p.Lys240Thr) c.677A>C (p.Lys226Thr) c.4034A>C (p.Lys1345Thr) c.4088A>C (p.Lys1363Thr) c.4037A>C (p.Lys1346Thr) c.4085A>C (p.Lys1362Thr) c.4130A>C (p.Lys1377Thr) c.3995A>C (p.Lys1332Thr) c.4127A>C (p.Lys1376Thr) n.270A>C n.418A>C n.919A>C n.253A>C n.366-34A>C c.3992A>C (p.Lys1331Thr) n.4288A>C | |
2 | g.71611493A>G | CA347228441 | DYSF | c.1502A>G (p.Lys501Arg) c.719A>G (p.Lys240Arg) c.677A>G (p.Lys226Arg) c.4034A>G (p.Lys1345Arg) c.4088A>G (p.Lys1363Arg) c.4037A>G (p.Lys1346Arg) c.4085A>G (p.Lys1362Arg) c.4130A>G (p.Lys1377Arg) c.3995A>G (p.Lys1332Arg) c.4127A>G (p.Lys1376Arg) n.270A>G n.418A>G n.919A>G n.253A>G n.366-34A>G c.3992A>G (p.Lys1331Arg) n.4288A>G | |
2 | g.71611493A>T | CA347228440 | DYSF | c.1502A>T (p.Lys501Met) c.719A>T (p.Lys240Met) c.677A>T (p.Lys226Met) c.4034A>T (p.Lys1345Met) c.4088A>T (p.Lys1363Met) c.4037A>T (p.Lys1346Met) c.4085A>T (p.Lys1362Met) c.4130A>T (p.Lys1377Met) c.3995A>T (p.Lys1332Met) c.4127A>T (p.Lys1376Met) n.270A>T n.418A>T n.919A>T n.253A>T n.366-34A>T c.3992A>T (p.Lys1331Met) n.4288A>T | |
2 | g.71611494G>A | CA49778944 | DYSF | c.1503G>A (p.Lys501=) c.720G>A (p.Lys240=) c.678G>A (p.Lys226=) c.4035G>A (p.Lys1345=) c.4089G>A (p.Lys1363=) c.4038G>A (p.Lys1346=) c.4086G>A (p.Lys1362=) c.4131G>A (p.Lys1377=) c.3996G>A (p.Lys1332=) c.4128G>A (p.Lys1376=) n.271G>A n.419G>A n.920G>A n.254G>A n.366-33G>A c.3993G>A (p.Lys1331=) n.4289G>A | ClinVar dbSNP |
2 | g.71611494G>C | CA347228443 | DYSF | c.1503G>C (p.Lys501Asn) c.720G>C (p.Lys240Asn) c.678G>C (p.Lys226Asn) c.4035G>C (p.Lys1345Asn) c.4089G>C (p.Lys1363Asn) c.4038G>C (p.Lys1346Asn) c.4086G>C (p.Lys1362Asn) c.4131G>C (p.Lys1377Asn) c.3996G>C (p.Lys1332Asn) c.4128G>C (p.Lys1376Asn) n.271G>C n.419G>C n.920G>C n.254G>C n.366-33G>C c.3993G>C (p.Lys1331Asn) n.4289G>C | |
2 | g.71611494G= | CA1260124133 | DYSF | c.1503G= (p.Lys501=) c.720G= (p.Lys240=) c.678G= (p.Lys226=) c.4035G= (p.Lys1345=) c.4089G= (p.Lys1363=) c.4038G= (p.Lys1346=) c.4086G= (p.Lys1362=) c.4131G= (p.Lys1377=) c.3996G= (p.Lys1332=) c.4128G= (p.Lys1376=) n.271G= n.419G= n.920G= n.254G= n.366-33G= c.3993G= (p.Lys1331=) n.4289G= | |
2 | g.71611494G>T | CA347228442 | DYSF | c.1503G>T (p.Lys501Asn) c.720G>T (p.Lys240Asn) c.678G>T (p.Lys226Asn) c.4035G>T (p.Lys1345Asn) c.4089G>T (p.Lys1363Asn) c.4038G>T (p.Lys1346Asn) c.4086G>T (p.Lys1362Asn) c.4131G>T (p.Lys1377Asn) c.3996G>T (p.Lys1332Asn) c.4128G>T (p.Lys1376Asn) n.271G>T n.419G>T n.920G>T n.254G>T n.366-33G>T c.3993G>T (p.Lys1331Asn) n.4289G>T | |
2 | g.71611495A>C | CA347228444 | DYSF | c.1504A>C (p.Ser502Arg) c.721A>C (p.Ser241Arg) c.679A>C (p.Ser227Arg) c.4036A>C (p.Ser1346Arg) c.4090A>C (p.Ser1364Arg) c.4039A>C (p.Ser1347Arg) c.4087A>C (p.Ser1363Arg) c.4132A>C (p.Ser1378Arg) c.3997A>C (p.Ser1333Arg) c.4129A>C (p.Ser1377Arg) n.272A>C n.420A>C n.921A>C n.255A>C n.366-32A>C c.3994A>C (p.Ser1332Arg) n.4290A>C | gnomAD v4 |
2 | g.71611495A>G | CA347228446 | DYSF | c.1504A>G (p.Ser502Gly) c.721A>G (p.Ser241Gly) c.679A>G (p.Ser227Gly) c.4036A>G (p.Ser1346Gly) c.4090A>G (p.Ser1364Gly) c.4039A>G (p.Ser1347Gly) c.4087A>G (p.Ser1363Gly) c.4132A>G (p.Ser1378Gly) c.3997A>G (p.Ser1333Gly) c.4129A>G (p.Ser1377Gly) n.272A>G n.420A>G n.921A>G n.255A>G n.366-32A>G c.3994A>G (p.Ser1332Gly) n.4290A>G | gnomAD v4 |
2 | g.71611495A>T | CA347228445 | DYSF | c.1504A>T (p.Ser502Cys) c.721A>T (p.Ser241Cys) c.679A>T (p.Ser227Cys) c.4036A>T (p.Ser1346Cys) c.4090A>T (p.Ser1364Cys) c.4039A>T (p.Ser1347Cys) c.4087A>T (p.Ser1363Cys) c.4132A>T (p.Ser1378Cys) c.3997A>T (p.Ser1333Cys) c.4129A>T (p.Ser1377Cys) n.272A>T n.420A>T n.921A>T n.255A>T n.366-32A>T c.3994A>T (p.Ser1332Cys) n.4290A>T | gnomAD v4 |
2 | g.71611496G>A | CA347228447 | DYSF | c.1505G>A (p.Ser502Asn) c.722G>A (p.Ser241Asn) c.680G>A (p.Ser227Asn) c.4037G>A (p.Ser1346Asn) c.4091G>A (p.Ser1364Asn) c.4040G>A (p.Ser1347Asn) c.4088G>A (p.Ser1363Asn) c.4133G>A (p.Ser1378Asn) c.3998G>A (p.Ser1333Asn) c.4130G>A (p.Ser1377Asn) n.273G>A n.421G>A n.922G>A n.256G>A n.366-31G>A c.3995G>A (p.Ser1332Asn) n.4291G>A | |
2 | g.71611496G>C | CA347228448 | DYSF | c.1505G>C (p.Ser502Thr) c.722G>C (p.Ser241Thr) c.680G>C (p.Ser227Thr) c.4037G>C (p.Ser1346Thr) c.4091G>C (p.Ser1364Thr) c.4040G>C (p.Ser1347Thr) c.4088G>C (p.Ser1363Thr) c.4133G>C (p.Ser1378Thr) c.3998G>C (p.Ser1333Thr) c.4130G>C (p.Ser1377Thr) n.273G>C n.421G>C n.922G>C n.256G>C n.366-31G>C c.3995G>C (p.Ser1332Thr) n.4291G>C | |
2 | g.71611496G>T | CA347228449 | DYSF | c.1505G>T (p.Ser502Ile) c.722G>T (p.Ser241Ile) c.680G>T (p.Ser227Ile) c.4037G>T (p.Ser1346Ile) c.4091G>T (p.Ser1364Ile) c.4040G>T (p.Ser1347Ile) c.4088G>T (p.Ser1363Ile) c.4133G>T (p.Ser1378Ile) c.3998G>T (p.Ser1333Ile) c.4130G>T (p.Ser1377Ile) n.273G>T n.421G>T n.922G>T n.256G>T n.366-31G>T c.3995G>T (p.Ser1332Ile) n.4291G>T | |
2 | g.71611497T>A | CA347228450 | DYSF | c.1506T>A (p.Ser502Arg) c.723T>A (p.Ser241Arg) c.681T>A (p.Ser227Arg) c.4038T>A (p.Ser1346Arg) c.4092T>A (p.Ser1364Arg) c.4041T>A (p.Ser1347Arg) c.4089T>A (p.Ser1363Arg) c.4134T>A (p.Ser1378Arg) c.3999T>A (p.Ser1333Arg) c.4131T>A (p.Ser1377Arg) n.274T>A n.422T>A n.923T>A n.257T>A n.366-30T>A c.3996T>A (p.Ser1332Arg) n.4292T>A | |
2 | g.71611497T>C | CA426758857 | DYSF | c.1506T>C (p.Ser502=) c.723T>C (p.Ser241=) c.681T>C (p.Ser227=) c.4038T>C (p.Ser1346=) c.4092T>C (p.Ser1364=) c.4041T>C (p.Ser1347=) c.4089T>C (p.Ser1363=) c.4134T>C (p.Ser1378=) c.3999T>C (p.Ser1333=) c.4131T>C (p.Ser1377=) n.274T>C n.422T>C n.923T>C n.257T>C n.366-30T>C c.3996T>C (p.Ser1332=) n.4292T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611497T>G | CA347228451 | DYSF | c.1506T>G (p.Ser502Arg) c.723T>G (p.Ser241Arg) c.681T>G (p.Ser227Arg) c.4038T>G (p.Ser1346Arg) c.4092T>G (p.Ser1364Arg) c.4041T>G (p.Ser1347Arg) c.4089T>G (p.Ser1363Arg) c.4134T>G (p.Ser1378Arg) c.3999T>G (p.Ser1333Arg) c.4131T>G (p.Ser1377Arg) n.274T>G n.422T>G n.923T>G n.257T>G n.366-30T>G c.3996T>G (p.Ser1332Arg) n.4292T>G | |
2 | g.71611497T= | CA1260124134 | DYSF | c.1506T= (p.Ser502=) c.723T= (p.Ser241=) c.681T= (p.Ser227=) c.4038T= (p.Ser1346=) c.4092T= (p.Ser1364=) c.4041T= (p.Ser1347=) c.4089T= (p.Ser1363=) c.4134T= (p.Ser1378=) c.3999T= (p.Ser1333=) c.4131T= (p.Ser1377=) n.274T= n.422T= n.923T= n.257T= n.366-30T= c.3996T= (p.Ser1332=) n.4292T= | |
2 | g.71611498T>A | CA347228452 | DYSF | c.1507T>A (p.Tyr503Asn) c.724T>A (p.Tyr242Asn) c.682T>A (p.Tyr228Asn) c.4039T>A (p.Tyr1347Asn) c.4093T>A (p.Tyr1365Asn) c.4042T>A (p.Tyr1348Asn) c.4090T>A (p.Tyr1364Asn) c.4135T>A (p.Tyr1379Asn) c.4000T>A (p.Tyr1334Asn) c.4132T>A (p.Tyr1378Asn) n.275T>A n.423T>A n.924T>A n.258T>A n.366-29T>A c.3997T>A (p.Tyr1333Asn) n.4293T>A | |
2 | g.71611498T>C | CA347228453 | DYSF | c.1507T>C (p.Tyr503His) c.724T>C (p.Tyr242His) c.682T>C (p.Tyr228His) c.4039T>C (p.Tyr1347His) c.4093T>C (p.Tyr1365His) c.4042T>C (p.Tyr1348His) c.4090T>C (p.Tyr1364His) c.4135T>C (p.Tyr1379His) c.4000T>C (p.Tyr1334His) c.4132T>C (p.Tyr1378His) n.275T>C n.423T>C n.924T>C n.258T>C n.366-29T>C c.3997T>C (p.Tyr1333His) n.4293T>C | |
2 | g.71611498T>G | CA1706891 | DYSF | c.1507T>G (p.Tyr503Asp) c.724T>G (p.Tyr242Asp) c.682T>G (p.Tyr228Asp) c.4039T>G (p.Tyr1347Asp) c.4093T>G (p.Tyr1365Asp) c.4042T>G (p.Tyr1348Asp) c.4090T>G (p.Tyr1364Asp) c.4135T>G (p.Tyr1379Asp) c.4000T>G (p.Tyr1334Asp) c.4132T>G (p.Tyr1378Asp) n.275T>G n.423T>G n.924T>G n.258T>G n.366-29T>G c.3997T>G (p.Tyr1333Asp) n.4293T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611498T= | CA1260124135 | DYSF | c.1507T= (p.Tyr503=) c.724T= (p.Tyr242=) c.682T= (p.Tyr228=) c.4039T= (p.Tyr1347=) c.4093T= (p.Tyr1365=) c.4042T= (p.Tyr1348=) c.4090T= (p.Tyr1364=) c.4135T= (p.Tyr1379=) c.4000T= (p.Tyr1334=) c.4132T= (p.Tyr1378=) n.275T= n.423T= n.924T= n.258T= n.366-29T= c.3997T= (p.Tyr1333=) n.4293T= | |
2 | g.71611499A>C | CA347228454 | DYSF | c.1508A>C (p.Tyr503Ser) c.725A>C (p.Tyr242Ser) c.683A>C (p.Tyr228Ser) c.4040A>C (p.Tyr1347Ser) c.4094A>C (p.Tyr1365Ser) c.4043A>C (p.Tyr1348Ser) c.4091A>C (p.Tyr1364Ser) c.4136A>C (p.Tyr1379Ser) c.4001A>C (p.Tyr1334Ser) c.4133A>C (p.Tyr1378Ser) n.276A>C n.424A>C n.925A>C n.259A>C n.366-28A>C c.3998A>C (p.Tyr1333Ser) n.4294A>C | |
2 | g.71611499A>G | CA347228455 | DYSF | c.1508A>G (p.Tyr503Cys) c.725A>G (p.Tyr242Cys) c.683A>G (p.Tyr228Cys) c.4040A>G (p.Tyr1347Cys) c.4094A>G (p.Tyr1365Cys) c.4043A>G (p.Tyr1348Cys) c.4091A>G (p.Tyr1364Cys) c.4136A>G (p.Tyr1379Cys) c.4001A>G (p.Tyr1334Cys) c.4133A>G (p.Tyr1378Cys) n.276A>G n.424A>G n.925A>G n.259A>G n.366-28A>G c.3998A>G (p.Tyr1333Cys) n.4294A>G | |
2 | g.71611499A>T | CA347228456 | DYSF | c.1508A>T (p.Tyr503Phe) c.725A>T (p.Tyr242Phe) c.683A>T (p.Tyr228Phe) c.4040A>T (p.Tyr1347Phe) c.4094A>T (p.Tyr1365Phe) c.4043A>T (p.Tyr1348Phe) c.4091A>T (p.Tyr1364Phe) c.4136A>T (p.Tyr1379Phe) c.4001A>T (p.Tyr1334Phe) c.4133A>T (p.Tyr1378Phe) n.276A>T n.424A>T n.925A>T n.259A>T n.366-28A>T c.3998A>T (p.Tyr1333Phe) n.4294A>T | |
2 | g.71611500C>A | CA347228457 | DYSF | c.1509C>A (p.Tyr503Ter) c.726C>A (p.Tyr242Ter) c.684C>A (p.Tyr228Ter) c.4041C>A (p.Tyr1347Ter) c.4095C>A (p.Tyr1365Ter) c.4044C>A (p.Tyr1348Ter) c.4092C>A (p.Tyr1364Ter) c.4137C>A (p.Tyr1379Ter) c.4002C>A (p.Tyr1334Ter) c.4134C>A (p.Tyr1378Ter) n.277C>A n.425C>A n.926C>A n.260C>A n.366-27C>A c.3999C>A (p.Tyr1333Ter) n.4295C>A | dbSNP gnomAD v2 |
2 | g.71611500C= | CA1260124136 | DYSF | c.1509C= (p.Tyr503=) c.726C= (p.Tyr242=) c.684C= (p.Tyr228=) c.4041C= (p.Tyr1347=) c.4095C= (p.Tyr1365=) c.4044C= (p.Tyr1348=) c.4092C= (p.Tyr1364=) c.4137C= (p.Tyr1379=) c.4002C= (p.Tyr1334=) c.4134C= (p.Tyr1378=) n.277C= n.425C= n.926C= n.260C= n.366-27C= c.3999C= (p.Tyr1333=) n.4295C= | |
2 | g.71611500C>G | CA347228458 | DYSF | c.1509C>G (p.Tyr503Ter) c.726C>G (p.Tyr242Ter) c.684C>G (p.Tyr228Ter) c.4041C>G (p.Tyr1347Ter) c.4095C>G (p.Tyr1365Ter) c.4044C>G (p.Tyr1348Ter) c.4092C>G (p.Tyr1364Ter) c.4137C>G (p.Tyr1379Ter) c.4002C>G (p.Tyr1334Ter) c.4134C>G (p.Tyr1378Ter) n.277C>G n.425C>G n.926C>G n.260C>G n.366-27C>G c.3999C>G (p.Tyr1333Ter) n.4295C>G | |
2 | g.71611500C>T | CA426758864 | DYSF | c.1509C>T (p.Tyr503=) c.726C>T (p.Tyr242=) c.684C>T (p.Tyr228=) c.4041C>T (p.Tyr1347=) c.4095C>T (p.Tyr1365=) c.4044C>T (p.Tyr1348=) c.4092C>T (p.Tyr1364=) c.4137C>T (p.Tyr1379=) c.4002C>T (p.Tyr1334=) c.4134C>T (p.Tyr1378=) n.277C>T n.425C>T n.926C>T n.260C>T n.366-27C>T c.3999C>T (p.Tyr1333=) n.4295C>T | dbSNP |
2 | g.71611501C>A | CA347228459 | DYSF | c.1510C>A (p.Gln504Lys) c.727C>A (p.Gln243Lys) c.685C>A (p.Gln229Lys) c.4042C>A (p.Gln1348Lys) c.4096C>A (p.Gln1366Lys) c.4045C>A (p.Gln1349Lys) c.4093C>A (p.Gln1365Lys) c.4138C>A (p.Gln1380Lys) c.4003C>A (p.Gln1335Lys) c.4135C>A (p.Gln1379Lys) n.278C>A n.426C>A n.927C>A n.261C>A n.366-26C>A c.4000C>A (p.Gln1334Lys) n.4296C>A | |
2 | g.71611501C>G | CA347228460 | DYSF | c.1510C>G (p.Gln504Glu) c.727C>G (p.Gln243Glu) c.685C>G (p.Gln229Glu) c.4042C>G (p.Gln1348Glu) c.4096C>G (p.Gln1366Glu) c.4045C>G (p.Gln1349Glu) c.4093C>G (p.Gln1365Glu) c.4138C>G (p.Gln1380Glu) c.4003C>G (p.Gln1335Glu) c.4135C>G (p.Gln1379Glu) n.278C>G n.426C>G n.927C>G n.261C>G n.366-26C>G c.4000C>G (p.Gln1334Glu) n.4296C>G | |
2 | g.71611501C>T | CA347228461 | DYSF | c.1510C>T (p.Gln504Ter) c.727C>T (p.Gln243Ter) c.685C>T (p.Gln229Ter) c.4042C>T (p.Gln1348Ter) c.4096C>T (p.Gln1366Ter) c.4045C>T (p.Gln1349Ter) c.4093C>T (p.Gln1365Ter) c.4138C>T (p.Gln1380Ter) c.4003C>T (p.Gln1335Ter) c.4135C>T (p.Gln1379Ter) n.278C>T n.426C>T n.927C>T n.261C>T n.366-26C>T c.4000C>T (p.Gln1334Ter) n.4296C>T | |
2 | g.71611502A>C | CA347228462 | DYSF | c.1511A>C (p.Gln504Pro) c.728A>C (p.Gln243Pro) c.686A>C (p.Gln229Pro) c.4043A>C (p.Gln1348Pro) c.4097A>C (p.Gln1366Pro) c.4046A>C (p.Gln1349Pro) c.4094A>C (p.Gln1365Pro) c.4139A>C (p.Gln1380Pro) c.4004A>C (p.Gln1335Pro) c.4136A>C (p.Gln1379Pro) n.279A>C n.427A>C n.928A>C n.262A>C n.366-25A>C c.4001A>C (p.Gln1334Pro) n.4297A>C | |
2 | g.71611502A>G | CA347228463 | DYSF | c.1511A>G (p.Gln504Arg) c.728A>G (p.Gln243Arg) c.686A>G (p.Gln229Arg) c.4043A>G (p.Gln1348Arg) c.4097A>G (p.Gln1366Arg) c.4046A>G (p.Gln1349Arg) c.4094A>G (p.Gln1365Arg) c.4139A>G (p.Gln1380Arg) c.4004A>G (p.Gln1335Arg) c.4136A>G (p.Gln1379Arg) n.279A>G n.427A>G n.928A>G n.262A>G n.366-25A>G c.4001A>G (p.Gln1334Arg) n.4297A>G | gnomAD v4 |
2 | g.71611502A>T | CA347228464 | DYSF | c.1511A>T (p.Gln504Leu) c.728A>T (p.Gln243Leu) c.686A>T (p.Gln229Leu) c.4043A>T (p.Gln1348Leu) c.4097A>T (p.Gln1366Leu) c.4046A>T (p.Gln1349Leu) c.4094A>T (p.Gln1365Leu) c.4139A>T (p.Gln1380Leu) c.4004A>T (p.Gln1335Leu) c.4136A>T (p.Gln1379Leu) n.279A>T n.427A>T n.928A>T n.262A>T n.366-25A>T c.4001A>T (p.Gln1334Leu) n.4297A>T | |
2 | g.71611503G>A | CA426758869 | DYSF | c.1512G>A (p.Gln504=) c.729G>A (p.Gln243=) c.687G>A (p.Gln229=) c.4044G>A (p.Gln1348=) c.4098G>A (p.Gln1366=) c.4047G>A (p.Gln1349=) c.4095G>A (p.Gln1365=) c.4140G>A (p.Gln1380=) c.4005G>A (p.Gln1335=) c.4137G>A (p.Gln1379=) n.280G>A n.428G>A n.929G>A n.263G>A n.366-24G>A c.4002G>A (p.Gln1334=) n.4298G>A | |
2 | g.71611503G>C | CA347228465 | DYSF | c.1512G>C (p.Gln504His) c.729G>C (p.Gln243His) c.687G>C (p.Gln229His) c.4044G>C (p.Gln1348His) c.4098G>C (p.Gln1366His) c.4047G>C (p.Gln1349His) c.4095G>C (p.Gln1365His) c.4140G>C (p.Gln1380His) c.4005G>C (p.Gln1335His) c.4137G>C (p.Gln1379His) n.280G>C n.428G>C n.929G>C n.263G>C n.366-24G>C c.4002G>C (p.Gln1334His) n.4298G>C | |
2 | g.71611503G>T | CA347228466 | DYSF | c.1512G>T (p.Gln504His) c.729G>T (p.Gln243His) c.687G>T (p.Gln229His) c.4044G>T (p.Gln1348His) c.4098G>T (p.Gln1366His) c.4047G>T (p.Gln1349His) c.4095G>T (p.Gln1365His) c.4140G>T (p.Gln1380His) c.4005G>T (p.Gln1335His) c.4137G>T (p.Gln1379His) n.280G>T n.428G>T n.929G>T n.263G>T n.366-24G>T c.4002G>T (p.Gln1334His) n.4298G>T | |
2 | g.71611504C>A | CA347228467 | DYSF | c.1513C>A (p.Leu505Met) c.730C>A (p.Leu244Met) c.688C>A (p.Leu230Met) c.4045C>A (p.Leu1349Met) c.4099C>A (p.Leu1367Met) c.4048C>A (p.Leu1350Met) c.4096C>A (p.Leu1366Met) c.4141C>A (p.Leu1381Met) c.4006C>A (p.Leu1336Met) c.4138C>A (p.Leu1380Met) n.281C>A n.429C>A n.930C>A n.264C>A n.366-23C>A c.4003C>A (p.Leu1335Met) n.4299C>A | |
2 | g.71611504C>G | CA347228468 | DYSF | c.1513C>G (p.Leu505Val) c.730C>G (p.Leu244Val) c.688C>G (p.Leu230Val) c.4045C>G (p.Leu1349Val) c.4099C>G (p.Leu1367Val) c.4048C>G (p.Leu1350Val) c.4096C>G (p.Leu1366Val) c.4141C>G (p.Leu1381Val) c.4006C>G (p.Leu1336Val) c.4138C>G (p.Leu1380Val) n.281C>G n.429C>G n.930C>G n.264C>G n.366-23C>G c.4003C>G (p.Leu1335Val) n.4299C>G | COSMIC |
2 | g.71611504C>T | CA426758870 | DYSF | c.1513C>T (p.Leu505=) c.730C>T (p.Leu244=) c.688C>T (p.Leu230=) c.4045C>T (p.Leu1349=) c.4099C>T (p.Leu1367=) c.4048C>T (p.Leu1350=) c.4096C>T (p.Leu1366=) c.4141C>T (p.Leu1381=) c.4006C>T (p.Leu1336=) c.4138C>T (p.Leu1380=) n.281C>T n.429C>T n.930C>T n.264C>T n.366-23C>T c.4003C>T (p.Leu1335=) n.4299C>T | |
2 | g.71611505T>A | CA347228470 | DYSF | c.1514T>A (p.Leu505Gln) c.731T>A (p.Leu244Gln) c.689T>A (p.Leu230Gln) c.4046T>A (p.Leu1349Gln) c.4100T>A (p.Leu1367Gln) c.4049T>A (p.Leu1350Gln) c.4097T>A (p.Leu1366Gln) c.4142T>A (p.Leu1381Gln) c.4007T>A (p.Leu1336Gln) c.4139T>A (p.Leu1380Gln) n.282T>A n.430T>A n.931T>A n.265T>A n.366-22T>A c.4004T>A (p.Leu1335Gln) n.4300T>A | |
2 | g.71611505T>C | CA347228471 | DYSF | c.1514T>C (p.Leu505Pro) c.731T>C (p.Leu244Pro) c.689T>C (p.Leu230Pro) c.4046T>C (p.Leu1349Pro) c.4100T>C (p.Leu1367Pro) c.4049T>C (p.Leu1350Pro) c.4097T>C (p.Leu1366Pro) c.4142T>C (p.Leu1381Pro) c.4007T>C (p.Leu1336Pro) c.4139T>C (p.Leu1380Pro) n.282T>C n.430T>C n.931T>C n.265T>C n.366-22T>C c.4004T>C (p.Leu1335Pro) n.4300T>C | |
2 | g.71611505T>G | CA347228469 | DYSF | c.1514T>G (p.Leu505Arg) c.731T>G (p.Leu244Arg) c.689T>G (p.Leu230Arg) c.4046T>G (p.Leu1349Arg) c.4100T>G (p.Leu1367Arg) c.4049T>G (p.Leu1350Arg) c.4097T>G (p.Leu1366Arg) c.4142T>G (p.Leu1381Arg) c.4007T>G (p.Leu1336Arg) c.4139T>G (p.Leu1380Arg) n.282T>G n.430T>G n.931T>G n.265T>G n.366-22T>G c.4004T>G (p.Leu1335Arg) n.4300T>G | |
2 | g.71611506G>A | CA426758871 | DYSF | c.1515G>A (p.Leu505=) c.732G>A (p.Leu244=) c.690G>A (p.Leu230=) c.4047G>A (p.Leu1349=) c.4101G>A (p.Leu1367=) c.4050G>A (p.Leu1350=) c.4098G>A (p.Leu1366=) c.4143G>A (p.Leu1381=) c.4008G>A (p.Leu1336=) c.4140G>A (p.Leu1380=) n.283G>A n.431G>A n.932G>A n.266G>A n.366-21G>A c.4005G>A (p.Leu1335=) n.4301G>A | |
2 | g.71611506G>C | CA426758872 | DYSF | c.1515G>C (p.Leu505=) c.732G>C (p.Leu244=) c.690G>C (p.Leu230=) c.4047G>C (p.Leu1349=) c.4101G>C (p.Leu1367=) c.4050G>C (p.Leu1350=) c.4098G>C (p.Leu1366=) c.4143G>C (p.Leu1381=) c.4008G>C (p.Leu1336=) c.4140G>C (p.Leu1380=) n.283G>C n.431G>C n.932G>C n.266G>C n.366-21G>C c.4005G>C (p.Leu1335=) n.4301G>C | |
2 | g.71611506G>T | CA426758873 | DYSF | c.1515G>T (p.Leu505=) c.732G>T (p.Leu244=) c.690G>T (p.Leu230=) c.4047G>T (p.Leu1349=) c.4101G>T (p.Leu1367=) c.4050G>T (p.Leu1350=) c.4098G>T (p.Leu1366=) c.4143G>T (p.Leu1381=) c.4008G>T (p.Leu1336=) c.4140G>T (p.Leu1380=) n.283G>T n.431G>T n.932G>T n.266G>T n.366-21G>T c.4005G>T (p.Leu1335=) n.4301G>T | |
2 | g.71611507G>A | CA347228472 | DYSF | c.1516G>A (p.Ala506Thr) c.733G>A (p.Ala245Thr) c.691G>A (p.Ala231Thr) c.4048G>A (p.Ala1350Thr) c.4102G>A (p.Ala1368Thr) c.4051G>A (p.Ala1351Thr) c.4099G>A (p.Ala1367Thr) c.4144G>A (p.Ala1382Thr) c.4009G>A (p.Ala1337Thr) c.4141G>A (p.Ala1381Thr) n.284G>A n.432G>A n.933G>A n.267G>A n.366-20G>A c.4006G>A (p.Ala1336Thr) n.4302G>A | dbSNP |
2 | g.71611507G>C | CA347228473 | DYSF | c.1516G>C (p.Ala506Pro) c.733G>C (p.Ala245Pro) c.691G>C (p.Ala231Pro) c.4048G>C (p.Ala1350Pro) c.4102G>C (p.Ala1368Pro) c.4051G>C (p.Ala1351Pro) c.4099G>C (p.Ala1367Pro) c.4144G>C (p.Ala1382Pro) c.4009G>C (p.Ala1337Pro) c.4141G>C (p.Ala1381Pro) n.284G>C n.432G>C n.933G>C n.267G>C n.366-20G>C c.4006G>C (p.Ala1336Pro) n.4302G>C | |
2 | g.71611507G= | CA1260124137 | DYSF | c.1516G= (p.Ala506=) c.733G= (p.Ala245=) c.691G= (p.Ala231=) c.4048G= (p.Ala1350=) c.4102G= (p.Ala1368=) c.4051G= (p.Ala1351=) c.4099G= (p.Ala1367=) c.4144G= (p.Ala1382=) c.4009G= (p.Ala1337=) c.4141G= (p.Ala1381=) n.284G= n.432G= n.933G= n.267G= n.366-20G= c.4006G= (p.Ala1336=) n.4302G= | |
2 | g.71611507G>T | CA347228474 | DYSF | c.1516G>T (p.Ala506Ser) c.733G>T (p.Ala245Ser) c.691G>T (p.Ala231Ser) c.4048G>T (p.Ala1350Ser) c.4102G>T (p.Ala1368Ser) c.4051G>T (p.Ala1351Ser) c.4099G>T (p.Ala1367Ser) c.4144G>T (p.Ala1382Ser) c.4009G>T (p.Ala1337Ser) c.4141G>T (p.Ala1381Ser) n.284G>T n.432G>T n.933G>T n.267G>T n.366-20G>T c.4006G>T (p.Ala1336Ser) n.4302G>T | |
2 | g.71611508C>A | CA347228475 | DYSF | c.1517C>A (p.Ala506Asp) c.734C>A (p.Ala245Asp) c.692C>A (p.Ala231Asp) c.4049C>A (p.Ala1350Asp) c.4103C>A (p.Ala1368Asp) c.4052C>A (p.Ala1351Asp) c.4100C>A (p.Ala1367Asp) c.4145C>A (p.Ala1382Asp) c.4010C>A (p.Ala1337Asp) c.4142C>A (p.Ala1381Asp) n.285C>A n.433C>A n.934C>A n.268C>A n.366-19C>A c.4007C>A (p.Ala1336Asp) n.4303C>A | |
2 | g.71611508C>G | CA347228476 | DYSF | c.1517C>G (p.Ala506Gly) c.734C>G (p.Ala245Gly) c.692C>G (p.Ala231Gly) c.4049C>G (p.Ala1350Gly) c.4103C>G (p.Ala1368Gly) c.4052C>G (p.Ala1351Gly) c.4100C>G (p.Ala1367Gly) c.4145C>G (p.Ala1382Gly) c.4010C>G (p.Ala1337Gly) c.4142C>G (p.Ala1381Gly) n.285C>G n.433C>G n.934C>G n.268C>G n.366-19C>G c.4007C>G (p.Ala1336Gly) n.4303C>G | |
2 | g.71611508C>T | CA347228477 | DYSF | c.1517C>T (p.Ala506Val) c.734C>T (p.Ala245Val) c.692C>T (p.Ala231Val) c.4049C>T (p.Ala1350Val) c.4103C>T (p.Ala1368Val) c.4052C>T (p.Ala1351Val) c.4100C>T (p.Ala1367Val) c.4145C>T (p.Ala1382Val) c.4010C>T (p.Ala1337Val) c.4142C>T (p.Ala1381Val) n.285C>T n.433C>T n.934C>T n.268C>T n.366-19C>T c.4007C>T (p.Ala1336Val) n.4303C>T | gnomAD v4 |
2 | g.71611509C>A | CA426758875 | DYSF | c.1518C>A (p.Ala506=) c.735C>A (p.Ala245=) c.693C>A (p.Ala231=) c.4050C>A (p.Ala1350=) c.4104C>A (p.Ala1368=) c.4053C>A (p.Ala1351=) c.4101C>A (p.Ala1367=) c.4146C>A (p.Ala1382=) c.4011C>A (p.Ala1337=) c.4143C>A (p.Ala1381=) n.286C>A n.434C>A n.935C>A n.269C>A n.366-18C>A c.4008C>A (p.Ala1336=) n.4304C>A | |
2 | g.71611509C>G | CA426758876 | DYSF | c.1518C>G (p.Ala506=) c.735C>G (p.Ala245=) c.693C>G (p.Ala231=) c.4050C>G (p.Ala1350=) c.4104C>G (p.Ala1368=) c.4053C>G (p.Ala1351=) c.4101C>G (p.Ala1367=) c.4146C>G (p.Ala1382=) c.4011C>G (p.Ala1337=) c.4143C>G (p.Ala1381=) n.286C>G n.434C>G n.935C>G n.269C>G n.366-18C>G c.4008C>G (p.Ala1336=) n.4304C>G | |
2 | g.71611509C>T | CA426758877 | DYSF | c.1518C>T (p.Ala506=) c.735C>T (p.Ala245=) c.693C>T (p.Ala231=) c.4050C>T (p.Ala1350=) c.4104C>T (p.Ala1368=) c.4053C>T (p.Ala1351=) c.4101C>T (p.Ala1367=) c.4146C>T (p.Ala1382=) c.4011C>T (p.Ala1337=) c.4143C>T (p.Ala1381=) n.286C>T n.434C>T n.935C>T n.269C>T n.366-18C>T c.4008C>T (p.Ala1336=) n.4304C>T | |
2 | g.71611509_71611510delinsCA | CA1260124138 | DYSF | c.1518_1519delinsCA (p.Ala506=) c.735_736delinsCA (p.Ala245=) c.693_694delinsCA (p.Ala231=) c.4050_4051delinsCA (p.Ala1350=) c.4104_4105delinsCA (p.Ala1368=) c.4053_4054delinsCA (p.Ala1351=) c.4101_4102delinsCA (p.Ala1367=) c.4146_4147delinsCA (p.Ala1382=) c.4011_4012delinsCA (p.Ala1337=) c.4143_4144delinsCA (p.Ala1381=) n.286_287delinsCA n.434_435delinsCA n.935_936delinsCA n.269_270delinsCA n.366-18_366-17delinsCA c.4008_4009delinsCA (p.Ala1336=) n.4304_4305delinsCA | |
2 | g.71611511_71611513del | CA1032074284 | DYSF | c.1520_1522del (p.Asn507del) c.737_739del (p.Asn246del) c.695_697del (p.Asn232del) c.4052_4054del (p.Asn1351del) c.4106_4108del (p.Asn1369del) c.4055_4057del (p.Asn1352del) c.4103_4105del (p.Asn1368del) c.4148_4150del (p.Asn1383del) c.4013_4015del (p.Asn1338del) c.4145_4147del (p.Asn1382del) n.288_290del n.436_438del n.937_939del n.271_273del n.366-16_366-14del c.4010_4012del (p.Asn1337del) n.4306_4308del | gnomAD v3 gnomAD v4 |
2 | g.71611510A>C | CA347228478 | DYSF | c.1519A>C (p.Asn507His) c.736A>C (p.Asn246His) c.694A>C (p.Asn232His) c.4051A>C (p.Asn1351His) c.4105A>C (p.Asn1369His) c.4054A>C (p.Asn1352His) c.4102A>C (p.Asn1368His) c.4147A>C (p.Asn1383His) c.4012A>C (p.Asn1338His) c.4144A>C (p.Asn1382His) n.287A>C n.435A>C n.936A>C n.270A>C n.366-17A>C c.4009A>C (p.Asn1337His) n.4305A>C | |
2 | g.71611510A>G | CA347228479 | DYSF | c.1519A>G (p.Asn507Asp) c.736A>G (p.Asn246Asp) c.694A>G (p.Asn232Asp) c.4051A>G (p.Asn1351Asp) c.4105A>G (p.Asn1369Asp) c.4054A>G (p.Asn1352Asp) c.4102A>G (p.Asn1368Asp) c.4147A>G (p.Asn1383Asp) c.4012A>G (p.Asn1338Asp) c.4144A>G (p.Asn1382Asp) n.287A>G n.435A>G n.936A>G n.270A>G n.366-17A>G c.4009A>G (p.Asn1337Asp) n.4305A>G | gnomAD v4 |
2 | g.71611510A>T | CA347228480 | DYSF | c.1519A>T (p.Asn507Tyr) c.736A>T (p.Asn246Tyr) c.694A>T (p.Asn232Tyr) c.4051A>T (p.Asn1351Tyr) c.4105A>T (p.Asn1369Tyr) c.4054A>T (p.Asn1352Tyr) c.4102A>T (p.Asn1368Tyr) c.4147A>T (p.Asn1383Tyr) c.4012A>T (p.Asn1338Tyr) c.4144A>T (p.Asn1382Tyr) n.287A>T n.435A>T n.936A>T n.270A>T n.366-17A>T c.4009A>T (p.Asn1337Tyr) n.4305A>T | |
2 | g.71611511del | CA1260124139 | DYSF | c.1520del (p.Asn507ThrfsTer9) c.737del (p.Asn246ThrfsTer9) c.695del (p.Asn232ThrfsTer9) c.4052del (p.Asn1351ThrfsTer9) c.4106del (p.Asn1369ThrfsTer9) c.4055del (p.Asn1352ThrfsTer9) c.4103del (p.Asn1368ThrfsTer9) c.4148del (p.Asn1383ThrfsTer9) c.4013del (p.Asn1338ThrfsTer9) c.4145del (p.Asn1382ThrfsTer9) n.288del n.436del n.937del n.271del n.366-16del c.4010del (p.Asn1337ThrfsTer9) n.4306del | dbSNP gnomAD v4 |
2 | g.71611511A= | CA1260124140 | DYSF | c.1520A= (p.Asn507=) c.737A= (p.Asn246=) c.695A= (p.Asn232=) c.4052A= (p.Asn1351=) c.4106A= (p.Asn1369=) c.4055A= (p.Asn1352=) c.4103A= (p.Asn1368=) c.4148A= (p.Asn1383=) c.4013A= (p.Asn1338=) c.4145A= (p.Asn1382=) n.288A= n.436A= n.937A= n.271A= n.366-16A= c.4010A= (p.Asn1337=) n.4306A= | |
2 | g.71611511A>C | CA347228481 | DYSF | c.1520A>C (p.Asn507Thr) c.737A>C (p.Asn246Thr) c.695A>C (p.Asn232Thr) c.4052A>C (p.Asn1351Thr) c.4106A>C (p.Asn1369Thr) c.4055A>C (p.Asn1352Thr) c.4103A>C (p.Asn1368Thr) c.4148A>C (p.Asn1383Thr) c.4013A>C (p.Asn1338Thr) c.4145A>C (p.Asn1382Thr) n.288A>C n.436A>C n.937A>C n.271A>C n.366-16A>C c.4010A>C (p.Asn1337Thr) n.4306A>C | |
2 | g.71611511A>G | CA1706892 | DYSF | c.1520A>G (p.Asn507Ser) c.737A>G (p.Asn246Ser) c.695A>G (p.Asn232Ser) c.4052A>G (p.Asn1351Ser) c.4106A>G (p.Asn1369Ser) c.4055A>G (p.Asn1352Ser) c.4103A>G (p.Asn1368Ser) c.4148A>G (p.Asn1383Ser) c.4013A>G (p.Asn1338Ser) c.4145A>G (p.Asn1382Ser) n.288A>G n.436A>G n.937A>G n.271A>G n.366-16A>G c.4010A>G (p.Asn1337Ser) n.4306A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611511A>T | CA347228482 | DYSF | c.1520A>T (p.Asn507Ile) c.737A>T (p.Asn246Ile) c.695A>T (p.Asn232Ile) c.4052A>T (p.Asn1351Ile) c.4106A>T (p.Asn1369Ile) c.4055A>T (p.Asn1352Ile) c.4103A>T (p.Asn1368Ile) c.4148A>T (p.Asn1383Ile) c.4013A>T (p.Asn1338Ile) c.4145A>T (p.Asn1382Ile) n.288A>T n.436A>T n.937A>T n.271A>T n.366-16A>T c.4010A>T (p.Asn1337Ile) n.4306A>T | |
2 | g.71611512C>A | CA347228484 | DYSF | c.1521C>A (p.Asn507Lys) c.738C>A (p.Asn246Lys) c.696C>A (p.Asn232Lys) c.4053C>A (p.Asn1351Lys) c.4107C>A (p.Asn1369Lys) c.4056C>A (p.Asn1352Lys) c.4104C>A (p.Asn1368Lys) c.4149C>A (p.Asn1383Lys) c.4014C>A (p.Asn1338Lys) c.4146C>A (p.Asn1382Lys) n.289C>A n.437C>A n.938C>A n.272C>A n.366-15C>A c.4011C>A (p.Asn1337Lys) n.4307C>A | |
2 | g.71611512C>G | CA347228483 | DYSF | c.1521C>G (p.Asn507Lys) c.738C>G (p.Asn246Lys) c.696C>G (p.Asn232Lys) c.4053C>G (p.Asn1351Lys) c.4107C>G (p.Asn1369Lys) c.4056C>G (p.Asn1352Lys) c.4104C>G (p.Asn1368Lys) c.4149C>G (p.Asn1383Lys) c.4014C>G (p.Asn1338Lys) c.4146C>G (p.Asn1382Lys) n.289C>G n.437C>G n.938C>G n.272C>G n.366-15C>G c.4011C>G (p.Asn1337Lys) n.4307C>G | |
2 | g.71611512C>T | CA426758880 | DYSF | c.1521C>T (p.Asn507=) c.738C>T (p.Asn246=) c.696C>T (p.Asn232=) c.4053C>T (p.Asn1351=) c.4107C>T (p.Asn1369=) c.4056C>T (p.Asn1352=) c.4104C>T (p.Asn1368=) c.4149C>T (p.Asn1383=) c.4014C>T (p.Asn1338=) c.4146C>T (p.Asn1382=) n.289C>T n.437C>T n.938C>T n.272C>T n.366-15C>T c.4011C>T (p.Asn1337=) n.4307C>T | |
2 | g.71611513A>C | CA347228485 | DYSF | c.1522A>C (p.Ile508Leu) c.739A>C (p.Ile247Leu) c.697A>C (p.Ile233Leu) c.4054A>C (p.Ile1352Leu) c.4108A>C (p.Ile1370Leu) c.4057A>C (p.Ile1353Leu) c.4105A>C (p.Ile1369Leu) c.4150A>C (p.Ile1384Leu) c.4015A>C (p.Ile1339Leu) c.4147A>C (p.Ile1383Leu) n.290A>C n.438A>C n.939A>C n.273A>C n.366-14A>C c.4012A>C (p.Ile1338Leu) n.4308A>C | |
2 | g.71611513A>G | CA347228486 | DYSF | c.1522A>G (p.Ile508Val) c.739A>G (p.Ile247Val) c.697A>G (p.Ile233Val) c.4054A>G (p.Ile1352Val) c.4108A>G (p.Ile1370Val) c.4057A>G (p.Ile1353Val) c.4105A>G (p.Ile1369Val) c.4150A>G (p.Ile1384Val) c.4015A>G (p.Ile1339Val) c.4147A>G (p.Ile1383Val) n.290A>G n.438A>G n.939A>G n.273A>G n.366-14A>G c.4012A>G (p.Ile1338Val) n.4308A>G | gnomAD v4 |
2 | g.71611513A>T | CA347228487 | DYSF | c.1522A>T (p.Ile508Phe) c.739A>T (p.Ile247Phe) c.697A>T (p.Ile233Phe) c.4054A>T (p.Ile1352Phe) c.4108A>T (p.Ile1370Phe) c.4057A>T (p.Ile1353Phe) c.4105A>T (p.Ile1369Phe) c.4150A>T (p.Ile1384Phe) c.4015A>T (p.Ile1339Phe) c.4147A>T (p.Ile1383Phe) n.290A>T n.438A>T n.939A>T n.273A>T n.366-14A>T c.4012A>T (p.Ile1338Phe) n.4308A>T | |
2 | g.71611514T>A | CA347228488 | DYSF | c.1523T>A (p.Ile508Asn) c.740T>A (p.Ile247Asn) c.698T>A (p.Ile233Asn) c.4055T>A (p.Ile1352Asn) c.4109T>A (p.Ile1370Asn) c.4058T>A (p.Ile1353Asn) c.4106T>A (p.Ile1369Asn) c.4151T>A (p.Ile1384Asn) c.4016T>A (p.Ile1339Asn) c.4148T>A (p.Ile1383Asn) n.291T>A n.439T>A n.940T>A n.274T>A n.366-13T>A c.4013T>A (p.Ile1338Asn) n.4309T>A | |
2 | g.71611514T>C | CA347228489 | DYSF | c.1523T>C (p.Ile508Thr) c.740T>C (p.Ile247Thr) c.698T>C (p.Ile233Thr) c.4055T>C (p.Ile1352Thr) c.4109T>C (p.Ile1370Thr) c.4058T>C (p.Ile1353Thr) c.4106T>C (p.Ile1369Thr) c.4151T>C (p.Ile1384Thr) c.4016T>C (p.Ile1339Thr) c.4148T>C (p.Ile1383Thr) n.291T>C n.439T>C n.940T>C n.274T>C n.366-13T>C c.4013T>C (p.Ile1338Thr) n.4309T>C | |
2 | g.71611514T>G | CA347228490 | DYSF | c.1523T>G (p.Ile508Ser) c.740T>G (p.Ile247Ser) c.698T>G (p.Ile233Ser) c.4055T>G (p.Ile1352Ser) c.4109T>G (p.Ile1370Ser) c.4058T>G (p.Ile1353Ser) c.4106T>G (p.Ile1369Ser) c.4151T>G (p.Ile1384Ser) c.4016T>G (p.Ile1339Ser) c.4148T>G (p.Ile1383Ser) n.291T>G n.439T>G n.940T>G n.274T>G n.366-13T>G c.4013T>G (p.Ile1338Ser) n.4309T>G | |
2 | g.71611514_71611517delinsTCTC | CA1260124141 | DYSF | c.1523_1526delinsTCTC (p.Ile508=) c.740_743delinsTCTC (p.Ile247=) c.698_701delinsTCTC (p.Ile233=) c.4055_4058delinsTCTC (p.Ile1352=) c.4109_4112delinsTCTC (p.Ile1370=) c.4058_4061delinsTCTC (p.Ile1353=) c.4106_4109delinsTCTC (p.Ile1369=) c.4151_4154delinsTCTC (p.Ile1384=) c.4016_4019delinsTCTC (p.Ile1339=) c.4148_4151delinsTCTC (p.Ile1383=) n.291_294delinsTCTC n.439_442delinsTCTC n.940_943delinsTCTC n.274_277delinsTCTC n.366-13_366-10delinsTCTC c.4013_4016delinsTCTC (p.Ile1338=) n.4309_4312delinsTCTC | |
2 | g.71611515C>A | CA426758885 | DYSF | c.1524C>A (p.Ile508=) c.741C>A (p.Ile247=) c.699C>A (p.Ile233=) c.4056C>A (p.Ile1352=) c.4110C>A (p.Ile1370=) c.4059C>A (p.Ile1353=) c.4107C>A (p.Ile1369=) c.4152C>A (p.Ile1384=) c.4017C>A (p.Ile1339=) c.4149C>A (p.Ile1383=) n.292C>A n.440C>A n.941C>A n.275C>A n.366-12C>A c.4014C>A (p.Ile1338=) n.4310C>A | |
2 | g.71611515C>G | CA347228491 | DYSF | c.1524C>G (p.Ile508Met) c.741C>G (p.Ile247Met) c.699C>G (p.Ile233Met) c.4056C>G (p.Ile1352Met) c.4110C>G (p.Ile1370Met) c.4059C>G (p.Ile1353Met) c.4107C>G (p.Ile1369Met) c.4152C>G (p.Ile1384Met) c.4017C>G (p.Ile1339Met) c.4149C>G (p.Ile1383Met) n.292C>G n.440C>G n.941C>G n.275C>G n.366-12C>G c.4014C>G (p.Ile1338Met) n.4310C>G | |
2 | g.71611515C>T | CA426758884 | DYSF | c.1524C>T (p.Ile508=) c.741C>T (p.Ile247=) c.699C>T (p.Ile233=) c.4056C>T (p.Ile1352=) c.4110C>T (p.Ile1370=) c.4059C>T (p.Ile1353=) c.4107C>T (p.Ile1369=) c.4152C>T (p.Ile1384=) c.4017C>T (p.Ile1339=) c.4149C>T (p.Ile1383=) n.292C>T n.440C>T n.941C>T n.275C>T n.366-12C>T c.4014C>T (p.Ile1338=) n.4310C>T | |
2 | g.71611519_71611521del | CA222161 | DYSF | c.1528_1530del (p.Ser510del) c.745_747del (p.Ser249del) c.703_705del (p.Ser235del) c.4060_4062del (p.Ser1354del) c.4114_4116del (p.Ser1372del) c.4063_4065del (p.Ser1355del) c.4111_4113del (p.Ser1371del) c.4156_4158del (p.Ser1386del) c.4021_4023del (p.Ser1341del) c.4153_4155del (p.Ser1385del) n.296_298del n.444_446del n.945_947del n.279_281del n.366-8_366-6del c.4018_4020del (p.Ser1340del) n.4314_4316del | ClinVar dbSNP gnomAD v4 |
2 | g.71611516T>A | CA347228492 | DYSF | c.1525T>A (p.Ser509Thr) c.742T>A (p.Ser248Thr) c.700T>A (p.Ser234Thr) c.4057T>A (p.Ser1353Thr) c.4111T>A (p.Ser1371Thr) c.4060T>A (p.Ser1354Thr) c.4108T>A (p.Ser1370Thr) c.4153T>A (p.Ser1385Thr) c.4018T>A (p.Ser1340Thr) c.4150T>A (p.Ser1384Thr) n.293T>A n.441T>A n.942T>A n.276T>A n.366-11T>A c.4015T>A (p.Ser1339Thr) n.4311T>A | |
2 | g.71611516T>C | CA347228493 | DYSF | c.1525T>C (p.Ser509Pro) c.742T>C (p.Ser248Pro) c.700T>C (p.Ser234Pro) c.4057T>C (p.Ser1353Pro) c.4111T>C (p.Ser1371Pro) c.4060T>C (p.Ser1354Pro) c.4108T>C (p.Ser1370Pro) c.4153T>C (p.Ser1385Pro) c.4018T>C (p.Ser1340Pro) c.4150T>C (p.Ser1384Pro) n.293T>C n.441T>C n.942T>C n.276T>C n.366-11T>C c.4015T>C (p.Ser1339Pro) n.4311T>C | |
2 | g.71611516T>G | CA347228494 | DYSF | c.1525T>G (p.Ser509Ala) c.742T>G (p.Ser248Ala) c.700T>G (p.Ser234Ala) c.4057T>G (p.Ser1353Ala) c.4111T>G (p.Ser1371Ala) c.4060T>G (p.Ser1354Ala) c.4108T>G (p.Ser1370Ala) c.4153T>G (p.Ser1385Ala) c.4018T>G (p.Ser1340Ala) c.4150T>G (p.Ser1384Ala) n.293T>G n.441T>G n.942T>G n.276T>G n.366-11T>G c.4015T>G (p.Ser1339Ala) n.4311T>G | |
2 | g.71611517C>A | CA49778978 | DYSF | c.1526C>A (p.Ser509Tyr) c.743C>A (p.Ser248Tyr) c.701C>A (p.Ser234Tyr) c.4058C>A (p.Ser1353Tyr) c.4112C>A (p.Ser1371Tyr) c.4061C>A (p.Ser1354Tyr) c.4109C>A (p.Ser1370Tyr) c.4154C>A (p.Ser1385Tyr) c.4019C>A (p.Ser1340Tyr) c.4151C>A (p.Ser1384Tyr) n.294C>A n.442C>A n.943C>A n.277C>A n.366-10C>A c.4016C>A (p.Ser1339Tyr) n.4312C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611517C= | CA1260124142 | DYSF | c.1526C= (p.Ser509=) c.743C= (p.Ser248=) c.701C= (p.Ser234=) c.4058C= (p.Ser1353=) c.4112C= (p.Ser1371=) c.4061C= (p.Ser1354=) c.4109C= (p.Ser1370=) c.4154C= (p.Ser1385=) c.4019C= (p.Ser1340=) c.4151C= (p.Ser1384=) n.294C= n.442C= n.943C= n.277C= n.366-10C= c.4016C= (p.Ser1339=) n.4312C= | |
2 | g.71611517C>G | CA347228495 | DYSF | c.1526C>G (p.Ser509Cys) c.743C>G (p.Ser248Cys) c.701C>G (p.Ser234Cys) c.4058C>G (p.Ser1353Cys) c.4112C>G (p.Ser1371Cys) c.4061C>G (p.Ser1354Cys) c.4109C>G (p.Ser1370Cys) c.4154C>G (p.Ser1385Cys) c.4019C>G (p.Ser1340Cys) c.4151C>G (p.Ser1384Cys) n.294C>G n.442C>G n.943C>G n.277C>G n.366-10C>G c.4016C>G (p.Ser1339Cys) n.4312C>G | |
2 | g.71611517C>T | CA347228496 | DYSF | c.1526C>T (p.Ser509Phe) c.743C>T (p.Ser248Phe) c.701C>T (p.Ser234Phe) c.4058C>T (p.Ser1353Phe) c.4112C>T (p.Ser1371Phe) c.4061C>T (p.Ser1354Phe) c.4109C>T (p.Ser1370Phe) c.4154C>T (p.Ser1385Phe) c.4019C>T (p.Ser1340Phe) c.4151C>T (p.Ser1384Phe) n.294C>T n.442C>T n.943C>T n.277C>T n.366-10C>T c.4016C>T (p.Ser1339Phe) n.4312C>T | ClinVar |
2 | g.71611518C>A | CA426758886 | DYSF | c.1527C>A (p.Ser509=) c.744C>A (p.Ser248=) c.702C>A (p.Ser234=) c.4059C>A (p.Ser1353=) c.4113C>A (p.Ser1371=) c.4062C>A (p.Ser1354=) c.4110C>A (p.Ser1370=) c.4155C>A (p.Ser1385=) c.4020C>A (p.Ser1340=) c.4152C>A (p.Ser1384=) n.295C>A n.443C>A n.944C>A n.278C>A n.366-9C>A c.4017C>A (p.Ser1339=) n.4313C>A | ClinVar dbSNP |
2 | g.71611518C>G | CA426758887 | DYSF | c.1527C>G (p.Ser509=) c.744C>G (p.Ser248=) c.702C>G (p.Ser234=) c.4059C>G (p.Ser1353=) c.4113C>G (p.Ser1371=) c.4062C>G (p.Ser1354=) c.4110C>G (p.Ser1370=) c.4155C>G (p.Ser1385=) c.4020C>G (p.Ser1340=) c.4152C>G (p.Ser1384=) n.295C>G n.443C>G n.944C>G n.278C>G n.366-9C>G c.4017C>G (p.Ser1339=) n.4313C>G | |
2 | g.71611518C>T | CA426758889 | DYSF | c.1527C>T (p.Ser509=) c.744C>T (p.Ser248=) c.702C>T (p.Ser234=) c.4059C>T (p.Ser1353=) c.4113C>T (p.Ser1371=) c.4062C>T (p.Ser1354=) c.4110C>T (p.Ser1370=) c.4155C>T (p.Ser1385=) c.4020C>T (p.Ser1340=) c.4152C>T (p.Ser1384=) n.295C>T n.443C>T n.944C>T n.278C>T n.366-9C>T c.4017C>T (p.Ser1339=) n.4313C>T | |
2 | g.71611518_71611519delinsCT | CA1260124143 | DYSF | c.1527_1528delinsCT (p.Ser509=) c.744_745delinsCT (p.Ser248=) c.702_703delinsCT (p.Ser234=) c.4059_4060delinsCT (p.Ser1353=) c.4113_4114delinsCT (p.Ser1371=) c.4062_4063delinsCT (p.Ser1354=) c.4110_4111delinsCT (p.Ser1370=) c.4155_4156delinsCT (p.Ser1385=) c.4020_4021delinsCT (p.Ser1340=) c.4152_4153delinsCT (p.Ser1384=) n.295_296delinsCT n.443_444delinsCT n.944_945delinsCT n.278_279delinsCT n.366-9_366-8delinsCT c.4017_4018delinsCT (p.Ser1339=) n.4313_4314delinsCT | |
2 | g.71611519del | CA1139532920 | DYSF | c.1528del (p.Ser510ProfsTer6) c.745del (p.Ser249ProfsTer6) c.703del (p.Ser235ProfsTer6) c.4060del (p.Ser1354ProfsTer6) c.4114del (p.Ser1372ProfsTer6) c.4063del (p.Ser1355ProfsTer6) c.4111del (p.Ser1371ProfsTer6) c.4156del (p.Ser1386ProfsTer6) c.4021del (p.Ser1341ProfsTer6) c.4153del (p.Ser1385ProfsTer6) n.296del n.444del n.945del n.279del n.366-8del c.4018del (p.Ser1340ProfsTer6) n.4314del | ClinVar dbSNP |
2 | g.71611519T>A | CA347228498 | DYSF | c.1528T>A (p.Ser510Thr) c.745T>A (p.Ser249Thr) c.703T>A (p.Ser235Thr) c.4060T>A (p.Ser1354Thr) c.4114T>A (p.Ser1372Thr) c.4063T>A (p.Ser1355Thr) c.4111T>A (p.Ser1371Thr) c.4156T>A (p.Ser1386Thr) c.4021T>A (p.Ser1341Thr) c.4153T>A (p.Ser1385Thr) n.296T>A n.444T>A n.945T>A n.279T>A n.366-8T>A c.4018T>A (p.Ser1340Thr) n.4314T>A | |
2 | g.71611519T>C | CA347228499 | DYSF | c.1528T>C (p.Ser510Pro) c.745T>C (p.Ser249Pro) c.703T>C (p.Ser235Pro) c.4060T>C (p.Ser1354Pro) c.4114T>C (p.Ser1372Pro) c.4063T>C (p.Ser1355Pro) c.4111T>C (p.Ser1371Pro) c.4156T>C (p.Ser1386Pro) c.4021T>C (p.Ser1341Pro) c.4153T>C (p.Ser1385Pro) n.296T>C n.444T>C n.945T>C n.279T>C n.366-8T>C c.4018T>C (p.Ser1340Pro) n.4314T>C | dbSNP gnomAD v4 |
2 | g.71611519T>G | CA347228497 | DYSF | c.1528T>G (p.Ser510Ala) c.745T>G (p.Ser249Ala) c.703T>G (p.Ser235Ala) c.4060T>G (p.Ser1354Ala) c.4114T>G (p.Ser1372Ala) c.4063T>G (p.Ser1355Ala) c.4111T>G (p.Ser1371Ala) c.4156T>G (p.Ser1386Ala) c.4021T>G (p.Ser1341Ala) c.4153T>G (p.Ser1385Ala) n.296T>G n.444T>G n.945T>G n.279T>G n.366-8T>G c.4018T>G (p.Ser1340Ala) n.4314T>G | |
2 | g.71611519T= | CA1260124144 | DYSF | c.1528T= (p.Ser510=) c.745T= (p.Ser249=) c.703T= (p.Ser235=) c.4060T= (p.Ser1354=) c.4114T= (p.Ser1372=) c.4063T= (p.Ser1355=) c.4111T= (p.Ser1371=) c.4156T= (p.Ser1386=) c.4021T= (p.Ser1341=) c.4153T= (p.Ser1385=) n.296T= n.444T= n.945T= n.279T= n.366-8T= c.4018T= (p.Ser1340=) n.4314T= | |
2 | g.71611520C>A | CA347228502 | DYSF | c.1529C>A (p.Ser510Tyr) c.746C>A (p.Ser249Tyr) c.704C>A (p.Ser235Tyr) c.4061C>A (p.Ser1354Tyr) c.4115C>A (p.Ser1372Tyr) c.4064C>A (p.Ser1355Tyr) c.4112C>A (p.Ser1371Tyr) c.4157C>A (p.Ser1386Tyr) c.4022C>A (p.Ser1341Tyr) c.4154C>A (p.Ser1385Tyr) n.297C>A n.445C>A n.946C>A n.280C>A n.366-7C>A c.4019C>A (p.Ser1340Tyr) n.4315C>A | |
2 | g.71611520C>G | CA347228500 | DYSF | c.1529C>G (p.Ser510Cys) c.746C>G (p.Ser249Cys) c.704C>G (p.Ser235Cys) c.4061C>G (p.Ser1354Cys) c.4115C>G (p.Ser1372Cys) c.4064C>G (p.Ser1355Cys) c.4112C>G (p.Ser1371Cys) c.4157C>G (p.Ser1386Cys) c.4022C>G (p.Ser1341Cys) c.4154C>G (p.Ser1385Cys) n.297C>G n.445C>G n.946C>G n.280C>G n.366-7C>G c.4019C>G (p.Ser1340Cys) n.4315C>G | |
2 | g.71611520C>T | CA347228501 | DYSF | c.1529C>T (p.Ser510Phe) c.746C>T (p.Ser249Phe) c.704C>T (p.Ser235Phe) c.4061C>T (p.Ser1354Phe) c.4115C>T (p.Ser1372Phe) c.4064C>T (p.Ser1355Phe) c.4112C>T (p.Ser1371Phe) c.4157C>T (p.Ser1386Phe) c.4022C>T (p.Ser1341Phe) c.4154C>T (p.Ser1385Phe) n.297C>T n.445C>T n.946C>T n.280C>T n.366-7C>T c.4019C>T (p.Ser1340Phe) n.4315C>T | |
2 | g.71611521C>A | CA426758890 | DYSF | c.1530C>A (p.Ser510=) c.747C>A (p.Ser249=) c.705C>A (p.Ser235=) c.4062C>A (p.Ser1354=) c.4116C>A (p.Ser1372=) c.4065C>A (p.Ser1355=) c.4113C>A (p.Ser1371=) c.4158C>A (p.Ser1386=) c.4023C>A (p.Ser1341=) c.4155C>A (p.Ser1385=) n.298C>A n.446C>A n.947C>A n.281C>A n.366-6C>A c.4020C>A (p.Ser1340=) n.4316C>A | |
2 | g.71611521C= | CA1260124145 | DYSF | c.1530C= (p.Ser510=) c.747C= (p.Ser249=) c.705C= (p.Ser235=) c.4062C= (p.Ser1354=) c.4116C= (p.Ser1372=) c.4065C= (p.Ser1355=) c.4113C= (p.Ser1371=) c.4158C= (p.Ser1386=) c.4023C= (p.Ser1341=) c.4155C= (p.Ser1385=) n.298C= n.446C= n.947C= n.281C= n.366-6C= c.4020C= (p.Ser1340=) n.4316C= | |
2 | g.71611521C>G | CA426758891 | DYSF | c.1530C>G (p.Ser510=) c.747C>G (p.Ser249=) c.705C>G (p.Ser235=) c.4062C>G (p.Ser1354=) c.4116C>G (p.Ser1372=) c.4065C>G (p.Ser1355=) c.4113C>G (p.Ser1371=) c.4158C>G (p.Ser1386=) c.4023C>G (p.Ser1341=) c.4155C>G (p.Ser1385=) n.298C>G n.446C>G n.947C>G n.281C>G n.366-6C>G c.4020C>G (p.Ser1340=) n.4316C>G | |
2 | g.71611521C>T | CA1706893 | DYSF | c.1530C>T (p.Ser510=) c.747C>T (p.Ser249=) c.705C>T (p.Ser235=) c.4062C>T (p.Ser1354=) c.4116C>T (p.Ser1372=) c.4065C>T (p.Ser1355=) c.4113C>T (p.Ser1371=) c.4158C>T (p.Ser1386=) c.4023C>T (p.Ser1341=) c.4155C>T (p.Ser1385=) n.298C>T n.446C>T n.947C>T n.281C>T n.366-6C>T c.4020C>T (p.Ser1340=) n.4316C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611521_71611522insT | CA2586969507 | DYSF | c.1530_1531insT (p.Pro511SerfsTer27) c.747_748insT (p.Pro250SerfsTer27) c.705_706insT (p.Pro236SerfsTer27) c.4062_4063insT (p.Pro1355SerfsTer27) c.4116_4117insT (p.Pro1373SerfsTer27) c.4065_4066insT (p.Pro1356SerfsTer27) c.4113_4114insT (p.Pro1372SerfsTer27) c.4158_4159insT (p.Pro1387SerfsTer27) c.4023_4024insT (p.Pro1342SerfsTer27) c.4155_4156insT (p.Pro1386SerfsTer27) n.298_299insT n.446_447insT n.947_948insT n.281_282insT n.366-6_366-5insT c.4020_4021insT (p.Pro1341SerfsTer27) n.4316_4317insT | |
2 | g.71611522C>A | CA1706894 | DYSF | c.1531C>A (p.Pro511Thr) c.748C>A (p.Pro250Thr) c.706C>A (p.Pro236Thr) c.4063C>A (p.Pro1355Thr) c.4117C>A (p.Pro1373Thr) c.4066C>A (p.Pro1356Thr) c.4114C>A (p.Pro1372Thr) c.4159C>A (p.Pro1387Thr) c.4024C>A (p.Pro1342Thr) c.4156C>A (p.Pro1386Thr) n.299C>A n.447C>A n.948C>A n.282C>A n.366-5C>A c.4021C>A (p.Pro1341Thr) n.4317C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611522C= | CA1260124146 | DYSF | c.1531C= (p.Pro511=) c.748C= (p.Pro250=) c.706C= (p.Pro236=) c.4063C= (p.Pro1355=) c.4117C= (p.Pro1373=) c.4066C= (p.Pro1356=) c.4114C= (p.Pro1372=) c.4159C= (p.Pro1387=) c.4024C= (p.Pro1342=) c.4156C= (p.Pro1386=) n.299C= n.447C= n.948C= n.282C= n.366-5C= c.4021C= (p.Pro1341=) n.4317C= | |
2 | g.71611522C>G | CA347228503 | DYSF | c.1531C>G (p.Pro511Ala) c.748C>G (p.Pro250Ala) c.706C>G (p.Pro236Ala) c.4063C>G (p.Pro1355Ala) c.4117C>G (p.Pro1373Ala) c.4066C>G (p.Pro1356Ala) c.4114C>G (p.Pro1372Ala) c.4159C>G (p.Pro1387Ala) c.4024C>G (p.Pro1342Ala) c.4156C>G (p.Pro1386Ala) n.299C>G n.447C>G n.948C>G n.282C>G n.366-5C>G c.4021C>G (p.Pro1341Ala) n.4317C>G | |
2 | g.71611522C>T | CA347228504 | DYSF | c.1531C>T (p.Pro511Ser) c.748C>T (p.Pro250Ser) c.706C>T (p.Pro236Ser) c.4063C>T (p.Pro1355Ser) c.4117C>T (p.Pro1373Ser) c.4066C>T (p.Pro1356Ser) c.4114C>T (p.Pro1372Ser) c.4159C>T (p.Pro1387Ser) c.4024C>T (p.Pro1342Ser) c.4156C>T (p.Pro1386Ser) n.299C>T n.447C>T n.948C>T n.282C>T n.366-5C>T c.4021C>T (p.Pro1341Ser) n.4317C>T | gnomAD v4 |
2 | g.71611522_71611523insT | CA2586969508 | DYSF | c.1531_1532insT (p.Pro511LeufsTer27) c.748_749insT (p.Pro250LeufsTer27) c.706_707insT (p.Pro236LeufsTer27) c.4063_4064insT (p.Pro1355LeufsTer27) c.4117_4118insT (p.Pro1373LeufsTer27) c.4066_4067insT (p.Pro1356LeufsTer27) c.4114_4115insT (p.Pro1372LeufsTer27) c.4159_4160insT (p.Pro1387LeufsTer27) c.4024_4025insT (p.Pro1342LeufsTer27) c.4156_4157insT (p.Pro1386LeufsTer27) n.299_300insT n.447_448insT n.948_949insT n.282_283insT n.366-5_366-4insT c.4021_4022insT (p.Pro1341LeufsTer27) n.4317_4318insT | |
2 | g.71611523C>A | CA347228505 | DYSF | c.1532C>A (p.Pro511His) c.749C>A (p.Pro250His) c.707C>A (p.Pro236His) c.4064C>A (p.Pro1355His) c.4118C>A (p.Pro1373His) c.4067C>A (p.Pro1356His) c.4115C>A (p.Pro1372His) c.4160C>A (p.Pro1387His) c.4025C>A (p.Pro1342His) c.4157C>A (p.Pro1386His) n.300C>A n.448C>A n.949C>A n.283C>A n.366-4C>A c.4022C>A (p.Pro1341His) n.4318C>A | dbSNP gnomAD v4 |
2 | g.71611523C= | CA1260124147 | DYSF | c.1532C= (p.Pro511=) c.749C= (p.Pro250=) c.707C= (p.Pro236=) c.4064C= (p.Pro1355=) c.4118C= (p.Pro1373=) c.4067C= (p.Pro1356=) c.4115C= (p.Pro1372=) c.4160C= (p.Pro1387=) c.4025C= (p.Pro1342=) c.4157C= (p.Pro1386=) n.300C= n.448C= n.949C= n.283C= n.366-4C= c.4022C= (p.Pro1341=) n.4318C= | |
2 | g.71611523C>G | CA347228506 | DYSF | c.1532C>G (p.Pro511Arg) c.749C>G (p.Pro250Arg) c.707C>G (p.Pro236Arg) c.4064C>G (p.Pro1355Arg) c.4118C>G (p.Pro1373Arg) c.4067C>G (p.Pro1356Arg) c.4115C>G (p.Pro1372Arg) c.4160C>G (p.Pro1387Arg) c.4025C>G (p.Pro1342Arg) c.4157C>G (p.Pro1386Arg) n.300C>G n.448C>G n.949C>G n.283C>G n.366-4C>G c.4022C>G (p.Pro1341Arg) n.4318C>G | |
2 | g.71611523C>T | CA347228507 | DYSF | c.1532C>T (p.Pro511Leu) c.749C>T (p.Pro250Leu) c.707C>T (p.Pro236Leu) c.4064C>T (p.Pro1355Leu) c.4118C>T (p.Pro1373Leu) c.4067C>T (p.Pro1356Leu) c.4115C>T (p.Pro1372Leu) c.4160C>T (p.Pro1387Leu) c.4025C>T (p.Pro1342Leu) c.4157C>T (p.Pro1386Leu) n.300C>T n.448C>T n.949C>T n.283C>T n.366-4C>T c.4022C>T (p.Pro1341Leu) n.4318C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611524C>A | CA1706895 | DYSF | c.1533C>A (p.Pro511=) c.750C>A (p.Pro250=) c.708C>A (p.Pro236=) c.4065C>A (p.Pro1355=) c.4119C>A (p.Pro1373=) c.4068C>A (p.Pro1356=) c.4116C>A (p.Pro1372=) c.4161C>A (p.Pro1387=) c.4026C>A (p.Pro1342=) c.4158C>A (p.Pro1386=) n.301C>A n.449C>A n.950C>A n.284C>A n.366-3C>A c.4023C>A (p.Pro1341=) n.4319C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611524C= | CA1260124148 | DYSF | c.1533C= (p.Pro511=) c.750C= (p.Pro250=) c.708C= (p.Pro236=) c.4065C= (p.Pro1355=) c.4119C= (p.Pro1373=) c.4068C= (p.Pro1356=) c.4116C= (p.Pro1372=) c.4161C= (p.Pro1387=) c.4026C= (p.Pro1342=) c.4158C= (p.Pro1386=) n.301C= n.449C= n.950C= n.284C= n.366-3C= c.4023C= (p.Pro1341=) n.4319C= | |
2 | g.71611524C>G | CA426758592 | DYSF | c.1533C>G (p.Pro511=) c.750C>G (p.Pro250=) c.708C>G (p.Pro236=) c.4065C>G (p.Pro1355=) c.4119C>G (p.Pro1373=) c.4068C>G (p.Pro1356=) c.4116C>G (p.Pro1372=) c.4161C>G (p.Pro1387=) c.4026C>G (p.Pro1342=) c.4158C>G (p.Pro1386=) n.301C>G n.449C>G n.950C>G n.284C>G n.366-3C>G c.4023C>G (p.Pro1341=) n.4319C>G | |
2 | g.71611524C>T | CA426758593 | DYSF | c.1533C>T (p.Pro511=) c.750C>T (p.Pro250=) c.708C>T (p.Pro236=) c.4065C>T (p.Pro1355=) c.4119C>T (p.Pro1373=) c.4068C>T (p.Pro1356=) c.4116C>T (p.Pro1372=) c.4161C>T (p.Pro1387=) c.4026C>T (p.Pro1342=) c.4158C>T (p.Pro1386=) n.301C>T n.449C>T n.950C>T n.284C>T n.366-3C>T c.4023C>T (p.Pro1341=) n.4319C>T | dbSNP gnomAD v4 |
2 | g.71611525A= | CA1260124149 | DYSF | c.1534A= (p.Ser512=) c.751A= (p.Ser251=) c.709A= (p.Ser237=) c.4066A= (p.Ser1356=) c.4120A= (p.Ser1374=) c.4069A= (p.Ser1357=) c.4117A= (p.Ser1373=) c.4162A= (p.Ser1388=) c.4027A= (p.Ser1343=) c.4159A= (p.Ser1387=) n.302A= n.450A= n.951A= n.285A= n.366-2A= c.4024A= (p.Ser1342=) n.4320A= | |
2 | g.71611525A>C | CA347228508 | DYSF | c.1534A>C (p.Ser512Arg) c.751A>C (p.Ser251Arg) c.709A>C (p.Ser237Arg) c.4066A>C (p.Ser1356Arg) c.4120A>C (p.Ser1374Arg) c.4069A>C (p.Ser1357Arg) c.4117A>C (p.Ser1373Arg) c.4162A>C (p.Ser1388Arg) c.4027A>C (p.Ser1343Arg) c.4159A>C (p.Ser1387Arg) n.302A>C n.450A>C n.951A>C n.285A>C n.366-2A>C c.4024A>C (p.Ser1342Arg) n.4320A>C | |
2 | g.71611525A>G | CA347228509 | DYSF | c.1534A>G (p.Ser512Gly) c.751A>G (p.Ser251Gly) c.709A>G (p.Ser237Gly) c.4066A>G (p.Ser1356Gly) c.4120A>G (p.Ser1374Gly) c.4069A>G (p.Ser1357Gly) c.4117A>G (p.Ser1373Gly) c.4162A>G (p.Ser1388Gly) c.4027A>G (p.Ser1343Gly) c.4159A>G (p.Ser1387Gly) n.302A>G n.450A>G n.951A>G n.285A>G n.366-2A>G c.4024A>G (p.Ser1342Gly) n.4320A>G | dbSNP gnomAD v4 |
2 | g.71611525A>T | CA347228510 | DYSF | c.1534A>T (p.Ser512Cys) c.751A>T (p.Ser251Cys) c.709A>T (p.Ser237Cys) c.4066A>T (p.Ser1356Cys) c.4120A>T (p.Ser1374Cys) c.4069A>T (p.Ser1357Cys) c.4117A>T (p.Ser1373Cys) c.4162A>T (p.Ser1388Cys) c.4027A>T (p.Ser1343Cys) c.4159A>T (p.Ser1387Cys) n.302A>T n.450A>T n.951A>T n.285A>T n.366-2A>T c.4024A>T (p.Ser1342Cys) n.4320A>T | |
2 | g.71611526G>A | CA347228511 | DYSF | c.1535G>A (p.Ser512Asn) c.752G>A (p.Ser251Asn) c.710G>A (p.Ser237Asn) c.4067G>A (p.Ser1356Asn) c.4121G>A (p.Ser1374Asn) c.4070G>A (p.Ser1357Asn) c.4118G>A (p.Ser1373Asn) c.4163G>A (p.Ser1388Asn) c.4028G>A (p.Ser1343Asn) c.4160G>A (p.Ser1387Asn) n.303G>A n.451G>A n.952G>A n.286G>A n.366-1G>A c.4025G>A (p.Ser1342Asn) n.4321G>A | |
2 | g.71611526G>C | CA347228513 | DYSF | c.1535G>C (p.Ser512Thr) c.752G>C (p.Ser251Thr) c.710G>C (p.Ser237Thr) c.4067G>C (p.Ser1356Thr) c.4121G>C (p.Ser1374Thr) c.4070G>C (p.Ser1357Thr) c.4118G>C (p.Ser1373Thr) c.4163G>C (p.Ser1388Thr) c.4028G>C (p.Ser1343Thr) c.4160G>C (p.Ser1387Thr) n.303G>C n.451G>C n.952G>C n.286G>C n.366-1G>C c.4025G>C (p.Ser1342Thr) n.4321G>C | |
2 | g.71611526G>T | CA347228512 | DYSF | c.1535G>T (p.Ser512Ile) c.752G>T (p.Ser251Ile) c.710G>T (p.Ser237Ile) c.4067G>T (p.Ser1356Ile) c.4121G>T (p.Ser1374Ile) c.4070G>T (p.Ser1357Ile) c.4118G>T (p.Ser1373Ile) c.4163G>T (p.Ser1388Ile) c.4028G>T (p.Ser1343Ile) c.4160G>T (p.Ser1387Ile) n.303G>T n.451G>T n.952G>T n.286G>T n.366-1G>T c.4025G>T (p.Ser1342Ile) n.4321G>T | |
2 | g.71611527C>A | CA347228514 | DYSF | c.1536C>A (p.Ser512Arg) c.753C>A (p.Ser251Arg) c.711C>A (p.Ser237Arg) c.4068C>A (p.Ser1356Arg) c.4122C>A (p.Ser1374Arg) c.4071C>A (p.Ser1357Arg) c.4119C>A (p.Ser1373Arg) c.4164C>A (p.Ser1388Arg) c.4029C>A (p.Ser1343Arg) c.4161C>A (p.Ser1387Arg) n.304C>A n.452C>A n.953C>A n.287C>A n.366C>A c.4026C>A (p.Ser1342Arg) n.4322C>A | dbSNP |
2 | g.71611527C= | CA1260124150 | DYSF | c.1536C= (p.Ser512=) c.753C= (p.Ser251=) c.711C= (p.Ser237=) c.4068C= (p.Ser1356=) c.4122C= (p.Ser1374=) c.4071C= (p.Ser1357=) c.4119C= (p.Ser1373=) c.4164C= (p.Ser1388=) c.4029C= (p.Ser1343=) c.4161C= (p.Ser1387=) n.304C= n.452C= n.953C= n.287C= n.366C= c.4026C= (p.Ser1342=) n.4322C= | |
2 | g.71611527C>G | CA347228515 | DYSF | c.1536C>G (p.Ser512Arg) c.753C>G (p.Ser251Arg) c.711C>G (p.Ser237Arg) c.4068C>G (p.Ser1356Arg) c.4122C>G (p.Ser1374Arg) c.4071C>G (p.Ser1357Arg) c.4119C>G (p.Ser1373Arg) c.4164C>G (p.Ser1388Arg) c.4029C>G (p.Ser1343Arg) c.4161C>G (p.Ser1387Arg) n.304C>G n.452C>G n.953C>G n.287C>G n.366C>G c.4026C>G (p.Ser1342Arg) n.4322C>G | |
2 | g.71611527C>T | CA147757 | DYSF | c.1536C>T (p.Ser512=) c.753C>T (p.Ser251=) c.711C>T (p.Ser237=) c.4068C>T (p.Ser1356=) c.4122C>T (p.Ser1374=) c.4071C>T (p.Ser1357=) c.4119C>T (p.Ser1373=) c.4164C>T (p.Ser1388=) c.4029C>T (p.Ser1343=) c.4161C>T (p.Ser1387=) n.304C>T n.452C>T n.953C>T n.287C>T n.366C>T c.4026C>T (p.Ser1342=) n.4322C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611528C>A | CA347228516 | DYSF | c.1537C>A (p.Leu513Ile) c.754C>A (p.Leu252Ile) c.712C>A (p.Leu238Ile) c.4069C>A (p.Leu1357Ile) c.4123C>A (p.Leu1375Ile) c.4072C>A (p.Leu1358Ile) c.4120C>A (p.Leu1374Ile) c.4165C>A (p.Leu1389Ile) c.4030C>A (p.Leu1344Ile) c.4162C>A (p.Leu1388Ile) n.305C>A n.453C>A n.954C>A n.288C>A n.367C>A c.4027C>A (p.Leu1343Ile) n.4323C>A | |
2 | g.71611528C= | CA1260124151 | DYSF | c.1537C= (p.Leu513=) c.754C= (p.Leu252=) c.712C= (p.Leu238=) c.4069C= (p.Leu1357=) c.4123C= (p.Leu1375=) c.4072C= (p.Leu1358=) c.4120C= (p.Leu1374=) c.4165C= (p.Leu1389=) c.4030C= (p.Leu1344=) c.4162C= (p.Leu1388=) n.305C= n.453C= n.954C= n.288C= n.367C= c.4027C= (p.Leu1343=) n.4323C= | |
2 | g.71611528C>G | CA347228517 | DYSF | c.1537C>G (p.Leu513Val) c.754C>G (p.Leu252Val) c.712C>G (p.Leu238Val) c.4069C>G (p.Leu1357Val) c.4123C>G (p.Leu1375Val) c.4072C>G (p.Leu1358Val) c.4120C>G (p.Leu1374Val) c.4165C>G (p.Leu1389Val) c.4030C>G (p.Leu1344Val) c.4162C>G (p.Leu1388Val) n.305C>G n.453C>G n.954C>G n.288C>G n.367C>G c.4027C>G (p.Leu1343Val) n.4323C>G | |
2 | g.71611528C>T | CA1706896 | DYSF | c.1537C>T (p.Leu513Phe) c.754C>T (p.Leu252Phe) c.712C>T (p.Leu238Phe) c.4069C>T (p.Leu1357Phe) c.4123C>T (p.Leu1375Phe) c.4072C>T (p.Leu1358Phe) c.4120C>T (p.Leu1374Phe) c.4165C>T (p.Leu1389Phe) c.4030C>T (p.Leu1344Phe) c.4162C>T (p.Leu1388Phe) n.305C>T n.453C>T n.954C>T n.288C>T n.367C>T c.4027C>T (p.Leu1343Phe) n.4323C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611529T>A | CA347228518 | DYSF | c.1538T>A (p.Leu513His) c.755T>A (p.Leu252His) c.713T>A (p.Leu238His) c.4070T>A (p.Leu1357His) c.4124T>A (p.Leu1375His) c.4073T>A (p.Leu1358His) c.4121T>A (p.Leu1374His) c.4166T>A (p.Leu1389His) c.4031T>A (p.Leu1344His) c.4163T>A (p.Leu1388His) n.306T>A n.454T>A n.955T>A n.289T>A n.368T>A c.4028T>A (p.Leu1343His) n.4324T>A | |
2 | g.71611529T>C | CA347228519 | DYSF | c.1538T>C (p.Leu513Pro) c.755T>C (p.Leu252Pro) c.713T>C (p.Leu238Pro) c.4070T>C (p.Leu1357Pro) c.4124T>C (p.Leu1375Pro) c.4073T>C (p.Leu1358Pro) c.4121T>C (p.Leu1374Pro) c.4166T>C (p.Leu1389Pro) c.4031T>C (p.Leu1344Pro) c.4163T>C (p.Leu1388Pro) n.306T>C n.454T>C n.955T>C n.289T>C n.368T>C c.4028T>C (p.Leu1343Pro) n.4324T>C | |
2 | g.71611529T>G | CA347228520 | DYSF | c.1538T>G (p.Leu513Arg) c.755T>G (p.Leu252Arg) c.713T>G (p.Leu238Arg) c.4070T>G (p.Leu1357Arg) c.4124T>G (p.Leu1375Arg) c.4073T>G (p.Leu1358Arg) c.4121T>G (p.Leu1374Arg) c.4166T>G (p.Leu1389Arg) c.4031T>G (p.Leu1344Arg) c.4163T>G (p.Leu1388Arg) n.306T>G n.454T>G n.955T>G n.289T>G n.368T>G c.4028T>G (p.Leu1343Arg) n.4324T>G | |
2 | g.71611530C>A | CA426758603 | DYSF | c.1539C>A (p.Leu513=) c.756C>A (p.Leu252=) c.714C>A (p.Leu238=) c.4071C>A (p.Leu1357=) c.4125C>A (p.Leu1375=) c.4074C>A (p.Leu1358=) c.4122C>A (p.Leu1374=) c.4167C>A (p.Leu1389=) c.4032C>A (p.Leu1344=) c.4164C>A (p.Leu1388=) n.307C>A n.455C>A n.956C>A n.290C>A n.369C>A c.4029C>A (p.Leu1343=) n.4325C>A | |
2 | g.71611530C= | CA1260124152 | DYSF | c.1539C= (p.Leu513=) c.756C= (p.Leu252=) c.714C= (p.Leu238=) c.4071C= (p.Leu1357=) c.4125C= (p.Leu1375=) c.4074C= (p.Leu1358=) c.4122C= (p.Leu1374=) c.4167C= (p.Leu1389=) c.4032C= (p.Leu1344=) c.4164C= (p.Leu1388=) n.307C= n.455C= n.956C= n.290C= n.369C= c.4029C= (p.Leu1343=) n.4325C= | |
2 | g.71611530C>G | CA426758604 | DYSF | c.1539C>G (p.Leu513=) c.756C>G (p.Leu252=) c.714C>G (p.Leu238=) c.4071C>G (p.Leu1357=) c.4125C>G (p.Leu1375=) c.4074C>G (p.Leu1358=) c.4122C>G (p.Leu1374=) c.4167C>G (p.Leu1389=) c.4032C>G (p.Leu1344=) c.4164C>G (p.Leu1388=) n.307C>G n.455C>G n.956C>G n.290C>G n.369C>G c.4029C>G (p.Leu1343=) n.4325C>G | gnomAD v3 gnomAD v4 |
2 | g.71611530C>T | CA1706897 | DYSF | c.1539C>T (p.Leu513=) c.756C>T (p.Leu252=) c.714C>T (p.Leu238=) c.4071C>T (p.Leu1357=) c.4125C>T (p.Leu1375=) c.4074C>T (p.Leu1358=) c.4122C>T (p.Leu1374=) c.4167C>T (p.Leu1389=) c.4032C>T (p.Leu1344=) c.4164C>T (p.Leu1388=) n.307C>T n.455C>T n.956C>T n.290C>T n.369C>T c.4029C>T (p.Leu1343=) n.4325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611531G>A | CA1706898 | DYSF | c.1540G>A (p.Val514Met) c.757G>A (p.Val253Met) c.715G>A (p.Val239Met) c.4072G>A (p.Val1358Met) c.4126G>A (p.Val1376Met) c.4075G>A (p.Val1359Met) c.4123G>A (p.Val1375Met) c.4168G>A (p.Val1390Met) c.4033G>A (p.Val1345Met) c.4165G>A (p.Val1389Met) n.308G>A n.456G>A n.957G>A n.291G>A n.370G>A c.4030G>A (p.Val1344Met) n.4326G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71611531G>C | CA347228522 | DYSF | c.1540G>C (p.Val514Leu) c.757G>C (p.Val253Leu) c.715G>C (p.Val239Leu) c.4072G>C (p.Val1358Leu) c.4126G>C (p.Val1376Leu) c.4075G>C (p.Val1359Leu) c.4123G>C (p.Val1375Leu) c.4168G>C (p.Val1390Leu) c.4033G>C (p.Val1345Leu) c.4165G>C (p.Val1389Leu) n.308G>C n.456G>C n.957G>C n.291G>C n.370G>C c.4030G>C (p.Val1344Leu) n.4326G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611531G= | CA1260124153 | DYSF | c.1540G= (p.Val514=) c.757G= (p.Val253=) c.715G= (p.Val239=) c.4072G= (p.Val1358=) c.4126G= (p.Val1376=) c.4075G= (p.Val1359=) c.4123G= (p.Val1375=) c.4168G= (p.Val1390=) c.4033G= (p.Val1345=) c.4165G= (p.Val1389=) n.308G= n.456G= n.957G= n.291G= n.370G= c.4030G= (p.Val1344=) n.4326G= | |
2 | g.71611531G>T | CA347228521 | DYSF | c.1540G>T (p.Val514Leu) c.757G>T (p.Val253Leu) c.715G>T (p.Val239Leu) c.4072G>T (p.Val1358Leu) c.4126G>T (p.Val1376Leu) c.4075G>T (p.Val1359Leu) c.4123G>T (p.Val1375Leu) c.4168G>T (p.Val1390Leu) c.4033G>T (p.Val1345Leu) c.4165G>T (p.Val1389Leu) n.308G>T n.456G>T n.957G>T n.291G>T n.370G>T c.4030G>T (p.Val1344Leu) n.4326G>T |