Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71481955C>ACA347216536DYSFc.221C>A (p.Thr74Lys)
c.224C>A (p.Thr75Lys)
n.382C>A
2g.71481955C=CA1260062203DYSFc.221C= (p.Thr74=)
c.224C= (p.Thr75=)
n.382C=
2g.71481955C>GCA347216537DYSFc.221C>G (p.Thr74Arg)
c.224C>G (p.Thr75Arg)
n.382C>G
2g.71481955C>TCA1705259DYSFc.221C>T (p.Thr74Met)
c.224C>T (p.Thr75Met)
n.382C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71481956G>ACA1705260DYSFc.222G>A (p.Thr74=)
c.225G>A (p.Thr75=)
n.383G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71481956G>CCA426699546DYSFc.222G>C (p.Thr74=)
c.225G>C (p.Thr75=)
n.383G>C
2g.71481956G=CA1260062204DYSFc.222G= (p.Thr74=)
c.225G= (p.Thr75=)
n.383G=
2g.71481956G>TCA1705261DYSFc.222G>T (p.Thr74=)
c.225G>T (p.Thr75=)
n.383G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481957A>CCA347216544DYSFc.223A>C (p.Met75Leu)
c.226A>C (p.Met76Leu)
n.384A>C
2g.71481957A>GCA347216549DYSFc.223A>G (p.Met75Val)
c.226A>G (p.Met76Val)
n.384A>G
2g.71481957A>TCA347216548DYSFc.223A>T (p.Met75Leu)
c.226A>T (p.Met76Leu)
n.384A>T
2g.71481958T>ACA347216550DYSFc.224T>A (p.Met75Lys)
c.227T>A (p.Met76Lys)
n.385T>A
2g.71481958T>CCA347216552DYSFc.224T>C (p.Met75Thr)
c.227T>C (p.Met76Thr)
n.385T>C
2g.71481958T>GCA347216553DYSFc.224T>G (p.Met75Arg)
c.227T>G (p.Met76Arg)
n.385T>G
2g.71481959G>ACA49751190DYSFc.225G>A (p.Met75Ile)
c.228G>A (p.Met76Ile)
n.386G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481959G>CCA347216554DYSFc.225G>C (p.Met75Ile)
c.228G>C (p.Met76Ile)
n.386G>C
2g.71481959G=CA1260062205DYSFc.225G= (p.Met75=)
c.228G= (p.Met76=)
n.386G=
2g.71481959G>TCA347216555DYSFc.225G>T (p.Met75Ile)
c.228G>T (p.Met76Ile)
n.386G>T
2g.71481960G>ACA347216556DYSFc.226G>A (p.Gly76Arg)
c.229G>A (p.Gly77Arg)
n.387G>A
 ClinVar
2g.71481960G>CCA347216557DYSFc.226G>C (p.Gly76Arg)
c.229G>C (p.Gly77Arg)
n.387G>C
2g.71481960G>TCA347216558DYSFc.226G>T (p.Gly76Trp)
c.229G>T (p.Gly77Trp)
n.387G>T
2g.71481961G>ACA347216559DYSFc.227G>A (p.Gly76Glu)
c.230G>A (p.Gly77Glu)
n.388G>A
2g.71481961G>CCA347216560DYSFc.227G>C (p.Gly76Ala)
c.230G>C (p.Gly77Ala)
n.388G>C
 gnomAD v4
2g.71481961G>TCA347216561DYSFc.227G>T (p.Gly76Val)
c.230G>T (p.Gly77Val)
n.388G>T
 gnomAD v4
2g.71481962G>ACA426699550DYSFc.228G>A (p.Gly76=)
c.231G>A (p.Gly77=)
n.389G>A
 ClinVar dbSNP gnomAD v4
2g.71481962G>CCA426699551DYSFc.228G>C (p.Gly76=)
c.231G>C (p.Gly77=)
n.389G>C
2g.71481962G=CA1260062206DYSFc.228G= (p.Gly76=)
c.231G= (p.Gly77=)
n.389G=
2g.71481962G>TCA426699549DYSFc.228G>T (p.Gly76=)
c.231G>T (p.Gly77=)
n.389G>T
2g.71481963A=CA1260062207DYSFc.229A= (p.Arg77=)
c.232A= (p.Arg78=)
n.390A=
2g.71481963A>CCA426699552DYSFc.229A>C (p.Arg77=)
c.232A>C (p.Arg78=)
n.390A>C
2g.71481963A>GCA347216563DYSFc.229A>G (p.Arg77Gly)
c.232A>G (p.Arg78Gly)
n.390A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71481963A>TCA347216562DYSFc.229A>T (p.Arg77Trp)
c.232A>T (p.Arg78Trp)
n.390A>T
2g.71481964G>ACA1705262DYSFc.230G>A (p.Arg77Lys)
c.233G>A (p.Arg78Lys)
n.391G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71481964G>CCA347216565DYSFc.230G>C (p.Arg77Thr)
c.233G>C (p.Arg78Thr)
n.391G>C
2g.71481964G=CA1260062208DYSFc.230G= (p.Arg77=)
c.233G= (p.Arg78=)
n.391G=
2g.71481964G>TCA347216564DYSFc.230G>T (p.Arg77Met)
c.233G>T (p.Arg78Met)
n.391G>T
 dbSNP gnomAD v2 gnomAD v4
2g.71481965G>ACA1705263DYSFc.231G>A (p.Arg77=)
c.234G>A (p.Arg78=)
n.392G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481965G>CCA347216566DYSFc.231G>C (p.Arg77Ser)
c.234G>C (p.Arg78Ser)
n.392G>C
2g.71481965G=CA1260062209DYSFc.231G= (p.Arg77=)
c.234G= (p.Arg78=)
n.392G=
2g.71481965G>TCA347216567DYSFc.231G>T (p.Arg77Ser)
c.234G>T (p.Arg78Ser)
n.392G>T
2g.71481966A>CCA347216569DYSFc.232A>C (p.Asn78His)
c.235A>C (p.Asn79His)
n.393A>C
2g.71481966A>GCA347216570DYSFc.232A>G (p.Asn78Asp)
c.235A>G (p.Asn79Asp)
n.393A>G
2g.71481966A>TCA347216571DYSFc.232A>T (p.Asn78Tyr)
c.235A>T (p.Asn79Tyr)
n.393A>T
 gnomAD v4
2g.71481967A>CCA347216574DYSFc.233A>C (p.Asn78Thr)
c.236A>C (p.Asn79Thr)
n.394A>C
2g.71481967A>GCA347216575DYSFc.233A>G (p.Asn78Ser)
c.236A>G (p.Asn79Ser)
n.394A>G
2g.71481967A>TCA347216576DYSFc.233A>T (p.Asn78Ile)
c.236A>T (p.Asn79Ile)
n.394A>T
2g.71481968C>ACA347216578DYSFc.234C>A (p.Asn78Lys)
c.237C>A (p.Asn79Lys)
n.395C>A
2g.71481968C>GCA347216580DYSFc.234C>G (p.Asn78Lys)
c.237C>G (p.Asn79Lys)
n.395C>G
2g.71481968C>TCA426699554DYSFc.234C>T (p.Asn78=)
c.237C>T (p.Asn79=)
n.395C>T
2g.71481969A>CCA426699555DYSFc.235A>C (p.Arg79=)
c.238A>C (p.Arg80=)
n.396A>C
 gnomAD v4

Number of alleles fetched