Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64759694T>A | CA381112078 | PYGM | c.205A>T (p.Ile69Phe) | |
11 | g.64759694T>C | CA381112079 | PYGM | c.205A>G (p.Ile69Val) | |
11 | g.64759694T>G | CA381112082 | PYGM | c.205A>C (p.Ile69Leu) | |
11 | g.64759694_64759702del | CA2792428935 | PYGM | c.197_205del (p.Gly66_Ile69delinsVal) | |
11 | g.64759695C>A | CA381112083 | PYGM | c.204G>T (p.Trp68Cys) | |
11 | g.64759695C= | CA1978929724 | PYGM | c.204G= (p.Trp68=) | |
11 | g.64759695C>G | CA381112093 | PYGM | c.204G>C (p.Trp68Cys) | |
11 | g.64759695C>T | CA16041507 | PYGM | c.204G>A (p.Trp68Ter) | ClinVar dbSNP |
11 | g.64759696C>A | CA381112105 | PYGM | c.203G>T (p.Trp68Leu) | |
11 | g.64759696C>G | CA381112107 | PYGM | c.203G>C (p.Trp68Ser) | |
11 | g.64759696C>T | CA381112103 | PYGM | c.203G>A (p.Trp68Ter) | |
11 | g.64759697A>C | CA381112110 | PYGM | c.202T>G (p.Trp68Gly) | |
11 | g.64759697A>G | CA381112113 | PYGM | c.202T>C (p.Trp68Arg) | |
11 | g.64759697A>T | CA381112115 | PYGM | c.202T>A (p.Trp68Arg) | |
11 | g.64759698G>A | CA475161284 | PYGM | c.201C>T (p.Arg67=) | |
11 | g.64759698G>C | CA475161285 | PYGM | c.201C>G (p.Arg67=) | |
11 | g.64759698G= | CA1978929729 | PYGM | c.201C= (p.Arg67=) | |
11 | g.64759698G>T | CA475161286 | PYGM | c.201C>A (p.Arg67=) | dbSNP |
11 | g.64759700_64759701del | CA912972830 | PYGM | c.200_201del (p.Arg67LeufsTer10) | |
11 | g.64759699C>A | CA381112117 | PYGM | c.200G>T (p.Arg67Leu) | |
11 | g.64759699C= | CA1978929733 | PYGM | c.200G= (p.Arg67=) | |
11 | g.64759699C>G | CA381112120 | PYGM | c.200G>C (p.Arg67Pro) | |
11 | g.64759699C>T | CA223889220 | PYGM | c.200G>A (p.Arg67His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.64759700G>A | CA6080345 | PYGM | c.199C>T (p.Arg67Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759700G>C | CA381112130 | PYGM | c.199C>G (p.Arg67Gly) | gnomAD v4 |
11 | g.64759700G= | CA1978929735 | PYGM | c.199C= (p.Arg67=) | |
11 | g.64759700G>T | CA381112132 | PYGM | c.199C>A (p.Arg67Ser) | |
11 | g.64759700_64759701delinsGC | CA1978929736 | PYGM | c.198_199delinsGC (p.Gly66=) | |
11 | g.64759701C>A | CA475161289 | PYGM | c.198G>T (p.Gly66=) | |
11 | g.64759701C= | CA1978929741 | PYGM | c.198G= (p.Gly66=) | |
11 | g.64759701C>G | CA6080347 | PYGM | c.198G>C (p.Gly66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759701C>T | CA475161290 | PYGM | c.198G>A (p.Gly66=) | gnomAD v4 |
11 | g.64759704del | CA6080346 | PYGM | c.198del (p.Arg67AlafsTer22) c.198del (p.Arg67AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.64759702C>A | CA6080348 | PYGM | c.197G>T (p.Gly66Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759702C= | CA1978929744 | PYGM | c.197G= (p.Gly66=) | |
11 | g.64759702C>G | CA381112163 | PYGM | c.197G>C (p.Gly66Ala) | |
11 | g.64759702C>T | CA381112145 | PYGM | c.197G>A (p.Gly66Glu) | |
11 | g.64759703C>A | CA381112174 | PYGM | c.196G>T (p.Gly66Trp) | |
11 | g.64759703C>G | CA381112178 | PYGM | c.196G>C (p.Gly66Arg) | |
11 | g.64759703C>T | CA381112182 | PYGM | c.196G>A (p.Gly66Arg) | gnomAD v4 |
11 | g.64759704C>A | CA475161292 | PYGM | c.195G>T (p.Val65=) | |
11 | g.64759704C>G | CA475161293 | PYGM | c.195G>C (p.Val65=) | |
11 | g.64759704C>T | CA475161295 | PYGM | c.195G>A (p.Val65=) | |
11 | g.64759705A= | CA1978929747 | PYGM | c.194T= (p.Val65=) | |
11 | g.64759705A>C | CA381112187 | PYGM | c.194T>G (p.Val65Gly) | |
11 | g.64759705A>G | CA381112194 | PYGM | c.194T>C (p.Val65Ala) | |
11 | g.64759705A>T | CA381112196 | PYGM | c.194T>A (p.Val65Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759705dup | CA2695198893 | PYGM | c.194dup (p.Arg67AlafsTer11) | ClinVar |
11 | g.64759706C>A | CA6080350 | PYGM | c.193G>T (p.Val65Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759706C= | CA1978929752 | PYGM | c.193G= (p.Val65=) |