| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64759684_64759686del | CA912972829 | PYGM | c.219_221del (p.Gln73del) | |
| 11 | g.64759684_64759690dup | CA2695214471 | PYGM | c.212_218dup (p.Gln73HisfsTer7) | |
| 11 | g.64759682G>A | CA16041506 | PYGM | c.217C>T (p.Gln73Ter) | ClinVar dbSNP |
| 11 | g.64759682G>C | CA381112001 | PYGM | c.217C>G (p.Gln73Glu) | |
| 11 | g.64759682G= | CA1978929697 | PYGM | c.217C= (p.Gln73=) | |
| 11 | g.64759682G>T | CA381112003 | PYGM | c.217C>A (p.Gln73Lys) | |
| 11 | g.64759683C>A | CA381112004 | PYGM | c.216G>T (p.Gln72His) | |
| 11 | g.64759683C= | CA1978929702 | PYGM | c.216G= (p.Gln72=) | |
| 11 | g.64759683C>G | CA381112005 | PYGM | c.216G>C (p.Gln72His) | |
| 11 | g.64759683C>T | CA223889206 | PYGM | c.216G>A (p.Gln72=) | dbSNP gnomAD v4 |
| 11 | g.64759684T>A | CA381112007 | PYGM | c.215A>T (p.Gln72Leu) | |
| 11 | g.64759684T>C | CA381112010 | PYGM | c.215A>G (p.Gln72Arg) | |
| 11 | g.64759684T>G | CA381112014 | PYGM | c.215A>C (p.Gln72Pro) | |
| 11 | g.64759685G>A | CA381112016 | PYGM | c.214C>T (p.Gln72Ter) | |
| 11 | g.64759685G>C | CA381112020 | PYGM | c.214C>G (p.Gln72Glu) | |
| 11 | g.64759685G>T | CA381112024 | PYGM | c.214C>A (p.Gln72Lys) | |
| 11 | g.64759686C>A | CA475161266 | PYGM | c.213G>T (p.Thr71=) | gnomAD v4 |
| 11 | g.64759686C= | CA1978929704 | PYGM | c.213G= (p.Thr71=) | |
| 11 | g.64759686C>G | CA475161267 | PYGM | c.213G>C (p.Thr71=) | |
| 11 | g.64759686C>T | CA6080341 | PYGM | c.213G>A (p.Thr71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759687G>A | CA6080342 | PYGM | c.212C>T (p.Thr71Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759687G>C | CA381112038 | PYGM | c.212C>G (p.Thr71Arg) | ClinVar gnomAD v4 |
| 11 | g.64759687G= | CA1978929707 | PYGM | c.212C= (p.Thr71=) | |
| 11 | g.64759687G>T | CA381112040 | PYGM | c.212C>A (p.Thr71Lys) | |
| 11 | g.64759688T>A | CA381112046 | PYGM | c.211A>T (p.Thr71Ser) | |
| 11 | g.64759688T>C | CA381112048 | PYGM | c.211A>G (p.Thr71Ala) | |
| 11 | g.64759688T>G | CA381112049 | PYGM | c.211A>C (p.Thr71Pro) | |
| 11 | g.64759689G>A | CA475161270 | PYGM | c.210C>T (p.Arg70=) | |
| 11 | g.64759689G>C | CA475161271 | PYGM | c.210C>G (p.Arg70=) | |
| 11 | g.64759689G>T | CA475161272 | PYGM | c.210C>A (p.Arg70=) | |
| 11 | g.64759690_64759692del | CA2580084888 | PYGM | c.208_210del (p.Arg70del) | ClinVar |
| 11 | g.64759690C>A | CA6080343 | PYGM | c.209G>T (p.Arg70Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759690C= | CA1978929711 | PYGM | c.209G= (p.Arg70=) | |
| 11 | g.64759690C>G | CA381112056 | PYGM | c.209G>C (p.Arg70Pro) | dbSNP gnomAD v4 |
| 11 | g.64759690C>T | CA381112055 | PYGM | c.209G>A (p.Arg70His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759691G>A | CA6080344 | PYGM | c.208C>T (p.Arg70Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759691G>C | CA381112063 | PYGM | c.208C>G (p.Arg70Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759691G= | CA1978929716 | PYGM | c.208C= (p.Arg70=) | |
| 11 | g.64759691G>T | CA381112064 | PYGM | c.208C>A (p.Arg70Ser) | |
| 11 | g.64759692G>A | CA475161275 | PYGM | c.207C>T (p.Ile69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759692G>C | CA381112067 | PYGM | c.207C>G (p.Ile69Met) | |
| 11 | g.64759692G= | CA1978929720 | PYGM | c.207C= (p.Ile69=) | |
| 11 | g.64759692G>T | CA475161276 | PYGM | c.207C>A (p.Ile69=) | |
| 11 | g.64759693A>C | CA381112071 | PYGM | c.206T>G (p.Ile69Ser) | |
| 11 | g.64759693A>G | CA381112074 | PYGM | c.206T>C (p.Ile69Thr) | |
| 11 | g.64759693A>T | CA381112077 | PYGM | c.206T>A (p.Ile69Asn) | |
| 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.64759695C>A | CA381112083 | PYGM | c.204G>T (p.Trp68Cys) |