Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71481958T>A | CA347216550 | DYSF | c.224T>A (p.Met75Lys) c.227T>A (p.Met76Lys) n.385T>A | |
2 | g.71481958T>C | CA347216552 | DYSF | c.224T>C (p.Met75Thr) c.227T>C (p.Met76Thr) n.385T>C | |
2 | g.71481958T>G | CA347216553 | DYSF | c.224T>G (p.Met75Arg) c.227T>G (p.Met76Arg) n.385T>G | |
2 | g.71481959G>A | CA49751190 | DYSF | c.225G>A (p.Met75Ile) c.228G>A (p.Met76Ile) n.386G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481959G>C | CA347216554 | DYSF | c.225G>C (p.Met75Ile) c.228G>C (p.Met76Ile) n.386G>C | |
2 | g.71481959G= | CA1260062205 | DYSF | c.225G= (p.Met75=) c.228G= (p.Met76=) n.386G= | |
2 | g.71481959G>T | CA347216555 | DYSF | c.225G>T (p.Met75Ile) c.228G>T (p.Met76Ile) n.386G>T | |
2 | g.71481960G>A | CA347216556 | DYSF | c.226G>A (p.Gly76Arg) c.229G>A (p.Gly77Arg) n.387G>A | ClinVar |
2 | g.71481960G>C | CA347216557 | DYSF | c.226G>C (p.Gly76Arg) c.229G>C (p.Gly77Arg) n.387G>C | |
2 | g.71481960G>T | CA347216558 | DYSF | c.226G>T (p.Gly76Trp) c.229G>T (p.Gly77Trp) n.387G>T | |
2 | g.71481961G>A | CA347216559 | DYSF | c.227G>A (p.Gly76Glu) c.230G>A (p.Gly77Glu) n.388G>A | |
2 | g.71481961G>C | CA347216560 | DYSF | c.227G>C (p.Gly76Ala) c.230G>C (p.Gly77Ala) n.388G>C | gnomAD v4 |
2 | g.71481961G>T | CA347216561 | DYSF | c.227G>T (p.Gly76Val) c.230G>T (p.Gly77Val) n.388G>T | gnomAD v4 |
2 | g.71481962G>A | CA426699550 | DYSF | c.228G>A (p.Gly76=) c.231G>A (p.Gly77=) n.389G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71481962G>C | CA426699551 | DYSF | c.228G>C (p.Gly76=) c.231G>C (p.Gly77=) n.389G>C | |
2 | g.71481962G= | CA1260062206 | DYSF | c.228G= (p.Gly76=) c.231G= (p.Gly77=) n.389G= | |
2 | g.71481962G>T | CA426699549 | DYSF | c.228G>T (p.Gly76=) c.231G>T (p.Gly77=) n.389G>T | |
2 | g.71481963A= | CA1260062207 | DYSF | c.229A= (p.Arg77=) c.232A= (p.Arg78=) n.390A= | |
2 | g.71481963A>C | CA426699552 | DYSF | c.229A>C (p.Arg77=) c.232A>C (p.Arg78=) n.390A>C | |
2 | g.71481963A>G | CA347216563 | DYSF | c.229A>G (p.Arg77Gly) c.232A>G (p.Arg78Gly) n.390A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481963A>T | CA347216562 | DYSF | c.229A>T (p.Arg77Trp) c.232A>T (p.Arg78Trp) n.390A>T | |
2 | g.71481964G>A | CA1705262 | DYSF | c.230G>A (p.Arg77Lys) c.233G>A (p.Arg78Lys) n.391G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71481964G>C | CA347216565 | DYSF | c.230G>C (p.Arg77Thr) c.233G>C (p.Arg78Thr) n.391G>C | |
2 | g.71481964G= | CA1260062208 | DYSF | c.230G= (p.Arg77=) c.233G= (p.Arg78=) n.391G= | |
2 | g.71481964G>T | CA347216564 | DYSF | c.230G>T (p.Arg77Met) c.233G>T (p.Arg78Met) n.391G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481965G>A | CA1705263 | DYSF | c.231G>A (p.Arg77=) c.234G>A (p.Arg78=) n.392G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481965G>C | CA347216566 | DYSF | c.231G>C (p.Arg77Ser) c.234G>C (p.Arg78Ser) n.392G>C | |
2 | g.71481965G= | CA1260062209 | DYSF | c.231G= (p.Arg77=) c.234G= (p.Arg78=) n.392G= | |
2 | g.71481965G>T | CA347216567 | DYSF | c.231G>T (p.Arg77Ser) c.234G>T (p.Arg78Ser) n.392G>T | |
2 | g.71481966A>C | CA347216569 | DYSF | c.232A>C (p.Asn78His) c.235A>C (p.Asn79His) n.393A>C | |
2 | g.71481966A>G | CA347216570 | DYSF | c.232A>G (p.Asn78Asp) c.235A>G (p.Asn79Asp) n.393A>G | |
2 | g.71481966A>T | CA347216571 | DYSF | c.232A>T (p.Asn78Tyr) c.235A>T (p.Asn79Tyr) n.393A>T | gnomAD v4 |
2 | g.71481967A>C | CA347216574 | DYSF | c.233A>C (p.Asn78Thr) c.236A>C (p.Asn79Thr) n.394A>C | |
2 | g.71481967A>G | CA347216575 | DYSF | c.233A>G (p.Asn78Ser) c.236A>G (p.Asn79Ser) n.394A>G | |
2 | g.71481967A>T | CA347216576 | DYSF | c.233A>T (p.Asn78Ile) c.236A>T (p.Asn79Ile) n.394A>T | |
2 | g.71481968C>A | CA347216578 | DYSF | c.234C>A (p.Asn78Lys) c.237C>A (p.Asn79Lys) n.395C>A | |
2 | g.71481968C>G | CA347216580 | DYSF | c.234C>G (p.Asn78Lys) c.237C>G (p.Asn79Lys) n.395C>G | |
2 | g.71481968C>T | CA426699554 | DYSF | c.234C>T (p.Asn78=) c.237C>T (p.Asn79=) n.395C>T | |
2 | g.71481969A>C | CA426699555 | DYSF | c.235A>C (p.Arg79=) c.238A>C (p.Arg80=) n.396A>C | gnomAD v4 |
2 | g.71481969A>G | CA347216582 | DYSF | c.235A>G (p.Arg79Gly) c.238A>G (p.Arg80Gly) n.396A>G | |
2 | g.71481969A>T | CA347216584 | DYSF | c.235A>T (p.Arg79Trp) c.238A>T (p.Arg80Trp) n.396A>T | |
2 | g.71481970G>A | CA347216585 | DYSF | c.236G>A (p.Arg79Lys) c.239G>A (p.Arg80Lys) n.397G>A | gnomAD v4 |
2 | g.71481970G>C | CA347216587 | DYSF | c.236G>C (p.Arg79Thr) c.239G>C (p.Arg80Thr) n.397G>C | |
2 | g.71481970G= | CA1260062210 | DYSF | c.236G= (p.Arg79=) c.239G= (p.Arg80=) n.397G= | |
2 | g.71481970G>T | CA347216586 | DYSF | c.236G>T (p.Arg79Met) c.239G>T (p.Arg80Met) n.397G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481971G>A | CA347216589 | DYSF | c.236+1G>A (n.236+1G>A) c.239+1G>A (n.239+1G>A) n.397+1G>A | gnomAD v4 |
2 | g.71481971G>C | CA347216590 | DYSF | c.236+1G>C (n.236+1G>C) c.239+1G>C (n.239+1G>C) n.397+1G>C | |
2 | g.71481971G>T | CA347216591 | DYSF | c.236+1G>T (n.236+1G>T) c.239+1G>T (n.239+1G>T) n.397+1G>T | gnomAD v4 |
2 | g.71481972T>A | CA347216593 | DYSF | c.236+2T>A (n.236+2T>A) c.239+2T>A (n.239+2T>A) n.397+2T>A | |
2 | g.71481972T>C | CA347216596 | DYSF | c.236+2T>C (n.236+2T>C) c.239+2T>C (n.239+2T>C) n.397+2T>C |