| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64758249_64758352del | CA212797 | PYGM | c.425_528del c.244-83_264del | |
| 11 | g.64758325_64758329delinsGTTGC | CA1978928239 | PYGM | c.445_449delinsGCAAC (p.Ala149=) c.244-63_244-59delinsGCAAC (n.244-63_244-59delinsGCAAC) | |
| 11 | g.64758326T>A | CA381109318 | PYGM | c.448A>T (p.Thr150Ser) c.244-60A>T (n.244-60A>T) | |
| 11 | g.64758326T>C | CA381109309 | PYGM | c.448A>G (p.Thr150Ala) c.244-60A>G (n.244-60A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758326T>G | CA381109303 | PYGM | c.448A>C (p.Thr150Pro) c.244-60A>C (n.244-60A>C) | |
| 11 | g.64758326T= | CA1978928244 | PYGM | c.448A= (p.Thr150=) c.244-60A= (n.244-60A=) | |
| 11 | g.64758326_64758329del | CA16041502 | PYGM | c.445_448del (p.Ala149HisfsTer?) c.244-63_244-60del (n.244-63_244-60del) | ClinVar dbSNP |
| 11 | g.64758327T>A | CA474960144 | PYGM | c.447A>T (p.Ala149=) c.244-61A>T (n.244-61A>T) | |
| 11 | g.64758327T>C | CA474960147 | PYGM | c.447A>G (p.Ala149=) c.244-61A>G (n.244-61A>G) | |
| 11 | g.64758327T>G | CA474960148 | PYGM | c.447A>C (p.Ala149=) c.244-61A>C (n.244-61A>C) | |
| 11 | g.64758328G>A | CA223888207 | PYGM | c.446C>T (p.Ala149Val) c.244-62C>T (n.244-62C>T) | dbSNP |
| 11 | g.64758328G>C | CA381109321 | PYGM | c.446C>G (p.Ala149Gly) c.244-62C>G (n.244-62C>G) | |
| 11 | g.64758328G= | CA1978928248 | PYGM | c.446C= (p.Ala149=) c.244-62C= (n.244-62C=) | |
| 11 | g.64758328G>T | CA381109322 | PYGM | c.446C>A (p.Ala149Glu) c.244-62C>A (n.244-62C>A) | gnomAD v4 |
| 11 | g.64758329C>A | CA381109323 | PYGM | c.445G>T (p.Ala149Ser) c.244-63G>T (n.244-63G>T) | |
| 11 | g.64758329C>G | CA381109324 | PYGM | c.445G>C (p.Ala149Pro) c.244-63G>C (n.244-63G>C) | |
| 11 | g.64758329C>T | CA381109325 | PYGM | c.445G>A (p.Ala149Thr) c.244-63G>A (n.244-63G>A) | |
| 11 | g.64758330C>A | CA381109327 | PYGM | c.444G>T (p.Met148Ile) c.244-64G>T (n.244-64G>T) | |
| 11 | g.64758330C= | CA1978928251 | PYGM | c.444G= (p.Met148=) c.244-64G= (n.244-64G=) | |
| 11 | g.64758330C>G | CA381109330 | PYGM | c.444G>C (p.Met148Ile) c.244-64G>C (n.244-64G>C) | |
| 11 | g.64758330C>T | CA381109339 | PYGM | c.444G>A (p.Met148Ile) c.244-64G>A (n.244-64G>A) | dbSNP gnomAD v4 |
| 11 | g.64758331A>C | CA381109342 | PYGM | c.443T>G (p.Met148Arg) c.244-65T>G (n.244-65T>G) | |
| 11 | g.64758331A>G | CA381109344 | PYGM | c.443T>C (p.Met148Thr) c.244-65T>C (n.244-65T>C) | |
| 11 | g.64758331A>T | CA381109348 | PYGM | c.443T>A (p.Met148Lys) c.244-65T>A (n.244-65T>A) | |
| 11 | g.64758332T>A | CA381109360 | PYGM | c.442A>T (p.Met148Leu) c.244-66A>T (n.244-66A>T) | |
| 11 | g.64758332T>C | CA381109358 | PYGM | c.442A>G (p.Met148Val) c.244-66A>G (n.244-66A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758332T>G | CA381109352 | PYGM | c.442A>C (p.Met148Leu) c.244-66A>C (n.244-66A>C) | |
| 11 | g.64758332T= | CA1978928255 | PYGM | c.442A= (p.Met148=) c.244-66A= (n.244-66A=) | |
| 11 | g.64758333G>A | CA474960162 | PYGM | c.441C>T (p.Ser147=) c.244-67C>T (n.244-67C>T) | |
| 11 | g.64758333G>C | CA474960165 | PYGM | c.441C>G (p.Ser147=) c.244-67C>G (n.244-67C>G) | |
| 11 | g.64758333G>T | CA474960163 | PYGM | c.441C>A (p.Ser147=) c.244-67C>A (n.244-67C>A) | dbSNP |
| 11 | g.64758334G>A | CA6080245 | PYGM | c.440C>T (p.Ser147Phe) c.244-68C>T (n.244-68C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758334G>C | CA381109363 | PYGM | c.440C>G (p.Ser147Cys) c.244-68C>G (n.244-68C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758334G= | CA1978928257 | PYGM | c.440C= (p.Ser147=) c.244-68C= (n.244-68C=) | |
| 11 | g.64758334G>T | CA381109366 | PYGM | c.440C>A (p.Ser147Tyr) c.244-68C>A (n.244-68C>A) | |
| 11 | g.64758335A>C | CA381109368 | PYGM | c.439T>G (p.Ser147Ala) c.244-69T>G (n.244-69T>G) | |
| 11 | g.64758335A>G | CA381109369 | PYGM | c.439T>C (p.Ser147Pro) c.244-69T>C (n.244-69T>C) | |
| 11 | g.64758335A>T | CA381109371 | PYGM | c.439T>A (p.Ser147Thr) c.244-69T>A (n.244-69T>A) | |
| 11 | g.64758336G>A | CA474960174 | PYGM | c.438C>T (p.Asp146=) c.244-70C>T (n.244-70C>T) | ClinVar |
| 11 | g.64758336G>C | CA381109373 | PYGM | c.438C>G (p.Asp146Glu) c.244-70C>G (n.244-70C>G) | |
| 11 | g.64758336G>T | CA381109376 | PYGM | c.438C>A (p.Asp146Glu) c.244-70C>A (n.244-70C>A) | |
| 11 | g.64758337T>A | CA381109377 | PYGM | c.437A>T (p.Asp146Val) c.244-71A>T (n.244-71A>T) | |
| 11 | g.64758337T>C | CA381109380 | PYGM | c.437A>G (p.Asp146Gly) c.244-71A>G (n.244-71A>G) | |
| 11 | g.64758337T>G | CA381109382 | PYGM | c.437A>C (p.Asp146Ala) c.244-71A>C (n.244-71A>C) | |
| 11 | g.64758338C>A | CA381109386 | PYGM | c.436G>T (p.Asp146Tyr) c.244-72G>T (n.244-72G>T) | |
| 11 | g.64758338C>G | CA381109389 | PYGM | c.436G>C (p.Asp146His) c.244-72G>C (n.244-72G>C) | |
| 11 | g.64758338C>T | CA381109394 | PYGM | c.436G>A (p.Asp146Asn) c.244-72G>A (n.244-72G>A) | |
| 11 | g.64758339A>C | CA474960187 | PYGM | c.435T>G (p.Leu145=) c.244-73T>G (n.244-73T>G) | dbSNP |
| 11 | g.64758339A>G | CA474960188 | PYGM | c.435T>C (p.Leu145=) c.244-73T>C (n.244-73T>C) | dbSNP |
| 11 | g.64758339A>T | CA474960190 | PYGM | c.435T>A (p.Leu145=) c.244-73T>A (n.244-73T>A) |