| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64759745_64759747dup | CA658822243 | PYGM | c.158_160dup (p.Tyr53_Phe54insTyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64759745_64759747del | CA679278043 | PYGM | c.158_160del (p.Tyr53del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64759747T>A | CA381112502 | PYGM | c.152A>T (p.Asp51Val) | |
| 11 | g.64759747T>C | CA261238 | PYGM | c.152A>G (p.Asp51Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64759747T>G | CA381112509 | PYGM | c.152A>C (p.Asp51Ala) | |
| 11 | g.64759747T= | CA1978929866 | PYGM | c.152A= (p.Asp51=) | |
| 11 | g.64759748C>A | CA381112520 | PYGM | c.151G>T (p.Asp51Tyr) | |
| 11 | g.64759748C>G | CA381112517 | PYGM | c.151G>C (p.Asp51His) | |
| 11 | g.64759748C>T | CA381112514 | PYGM | c.151G>A (p.Asp51Asn) | |
| 11 | g.64759748_64759770delinsCTCGTGGGGTGGCCACATTGCGG | CA1978929868 | PYGM | c.129_151delinsCCGCAATGTGGCCACCCCACGAG (p.Asp43=) | |
| 11 | g.64759749T>A | CA475161358 | PYGM | c.150A>T (p.Arg50=) | |
| 11 | g.64759749T>C | CA223889280 | PYGM | c.150A>G (p.Arg50=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759749T>G | CA475161361 | PYGM | c.150A>C (p.Arg50=) | |
| 11 | g.64759749T= | CA1978929873 | PYGM | c.150A= (p.Arg50=) | |
| 11 | g.64759751_64759772del | CA916083248 | PYGM | c.129_150del (p.Asp43GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64759750C>A | CA381112522 | PYGM | c.149G>T (p.Arg50Leu) | |
| 11 | g.64759750C= | CA1978929878 | PYGM | c.149G= (p.Arg50=) | |
| 11 | g.64759750C>G | CA381112524 | PYGM | c.149G>C (p.Arg50Pro) | |
| 11 | g.64759750C>T | CA6080358 | PYGM | c.149G>A (p.Arg50Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759751G>A | CA222884 | PYGM | c.148C>T (p.Arg50Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759751G>C | CA381112525 | PYGM | c.148C>G (p.Arg50Gly) | dbSNP |
| 11 | g.64759751G= | CA1978929887 | PYGM | c.148C= (p.Arg50=) | |
| 11 | g.64759751G>T | CA475161362 | PYGM | c.148C>A (p.Arg50=) | |
| 11 | g.64759752T>A | CA475161365 | PYGM | c.147A>T (p.Pro49=) | |
| 11 | g.64759752T>C | CA475161364 | PYGM | c.147A>G (p.Pro49=) | gnomAD v4 |
| 11 | g.64759752T>G | CA475161363 | PYGM | c.147A>C (p.Pro49=) | |
| 11 | g.64759753G>A | CA381112526 | PYGM | c.146C>T (p.Pro49Leu) | |
| 11 | g.64759753G>C | CA381112528 | PYGM | c.146C>G (p.Pro49Arg) | |
| 11 | g.64759753G= | CA1978929893 | PYGM | c.146C= (p.Pro49=) | |
| 11 | g.64759753G>T | CA6080359 | PYGM | c.146C>A (p.Pro49Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759754G>A | CA381112531 | PYGM | c.145C>T (p.Pro49Ser) | |
| 11 | g.64759754G>C | CA381112535 | PYGM | c.145C>G (p.Pro49Ala) | |
| 11 | g.64759754G= | CA1978929899 | PYGM | c.145C= (p.Pro49=) | |
| 11 | g.64759754G>T | CA381112533 | PYGM | c.145C>A (p.Pro49Thr) | |
| 11 | g.64759755G>A | CA475161367 | PYGM | c.144C>T (p.Thr48=) | |
| 11 | g.64759755G>C | CA475161368 | PYGM | c.144C>G (p.Thr48=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759755G= | CA1978929901 | PYGM | c.144C= (p.Thr48=) | |
| 11 | g.64759755G>T | CA475161370 | PYGM | c.144C>A (p.Thr48=) | |
| 11 | g.64759758_64759771dup | CA6080360 | PYGM | c.131_144dup (p.Pro49AlafsTer?) | dbSNP ExAC gnomAD v2 |
| 11 | g.64759756G>A | CA381112544 | PYGM | c.143C>T (p.Thr48Ile) | |
| 11 | g.64759756G>C | CA381112549 | PYGM | c.143C>G (p.Thr48Ser) | |
| 11 | g.64759756G>T | CA381112563 | PYGM | c.143C>A (p.Thr48Asn) | |
| 11 | g.64759757T>A | CA381112566 | PYGM | c.142A>T (p.Thr48Ser) | |
| 11 | g.64759757T>C | CA381112570 | PYGM | c.142A>G (p.Thr48Ala) | dbSNP gnomAD v4 |
| 11 | g.64759757T>G | CA381112568 | PYGM | c.142A>C (p.Thr48Pro) | |
| 11 | g.64759757T= | CA1978929906 | PYGM | c.142A= (p.Thr48=) | |
| 11 | g.64759758G>A | CA6080361 | PYGM | c.141C>T (p.Ala47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759758G>C | CA475161374 | PYGM | c.141C>G (p.Ala47=) | |
| 11 | g.64759758G= | CA1978929908 | PYGM | c.141C= (p.Ala47=) | |
| 11 | g.64759758G>T | CA475161375 | PYGM | c.141C>A (p.Ala47=) |