| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50915869G>A | CA341904 | PYGL | c.1195C>T (p.Arg399Ter) n.72C>T c.1093C>T (p.Arg365Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50915869G>C | CA389688500 | PYGL | c.1195C>G (p.Arg399Gly) n.72C>G c.1093C>G (p.Arg365Gly) | ClinVar dbSNP |
| 14 | g.50915869G= | CA2136419350 | PYGL | c.1195C= (p.Arg399=) n.72C= c.1093C= (p.Arg365=) | |
| 14 | g.50915869G>T | CA486383283 | PYGL | c.1195C>A (p.Arg399=) n.72C>A c.1093C>A (p.Arg365=) | |
| 14 | g.50915870A>C | CA486383284 | PYGL | c.1194T>G (p.Pro398=) n.71T>G c.1092T>G (p.Pro364=) | |
| 14 | g.50915870A>G | CA486383285 | PYGL | c.1194T>C (p.Pro398=) n.71T>C c.1092T>C (p.Pro364=) | |
| 14 | g.50915870A>T | CA486383286 | PYGL | c.1194T>A (p.Pro398=) n.71T>A c.1092T>A (p.Pro364=) | |
| 14 | g.50915871G>A | CA389688502 | PYGL | c.1193C>T (p.Pro398Leu) n.70C>T c.1091C>T (p.Pro364Leu) | |
| 14 | g.50915871G>C | CA389688503 | PYGL | c.1193C>G (p.Pro398Arg) n.70C>G c.1091C>G (p.Pro364Arg) | |
| 14 | g.50915871G>T | CA389688505 | PYGL | c.1193C>A (p.Pro398His) n.70C>A c.1091C>A (p.Pro364His) | |
| 14 | g.50915872G>A | CA389688508 | PYGL | c.1192C>T (p.Pro398Ser) n.69C>T c.1090C>T (p.Pro364Ser) | gnomAD v4 |
| 14 | g.50915872G>C | CA389688511 | PYGL | c.1192C>G (p.Pro398Ala) n.69C>G c.1090C>G (p.Pro364Ala) | |
| 14 | g.50915872G>T | CA389688507 | PYGL | c.1192C>A (p.Pro398Thr) n.69C>A c.1090C>A (p.Pro364Thr) | |
| 14 | g.50915872_50915873delinsAA | CA645589810 | PYGL | c.1191_1192delinsTT (p.Pro398Ser) n.68_69delinsTT c.1089_1090delinsTT (p.Pro364Ser) | COSMIC |
| 14 | g.50915873G>A | CA486383287 | PYGL | c.1191C>T (p.Leu397=) n.68C>T c.1089C>T (p.Leu363=) | |
| 14 | g.50915873G>C | CA486383288 | PYGL | c.1191C>G (p.Leu397=) n.68C>G c.1089C>G (p.Leu363=) | |
| 14 | g.50915873G>T | CA486383289 | PYGL | c.1191C>A (p.Leu397=) n.68C>A c.1089C>A (p.Leu363=) | |
| 14 | g.50915874A>C | CA389688513 | PYGL | c.1190T>G (p.Leu397Arg) n.67T>G c.1088T>G (p.Leu363Arg) | |
| 14 | g.50915874A>G | CA389688515 | PYGL | c.1190T>C (p.Leu397Pro) n.67T>C c.1088T>C (p.Leu363Pro) | gnomAD v4 |
| 14 | g.50915874A>T | CA389688517 | PYGL | c.1190T>A (p.Leu397His) n.67T>A c.1088T>A (p.Leu363His) | |
| 14 | g.50915875G>A | CA389688520 | PYGL | c.1189C>T (p.Leu397Phe) n.66C>T c.1087C>T (p.Leu363Phe) | |
| 14 | g.50915875G>C | CA389688522 | PYGL | c.1189C>G (p.Leu397Val) n.66C>G c.1087C>G (p.Leu363Val) | |
| 14 | g.50915875G>T | CA389688524 | PYGL | c.1189C>A (p.Leu397Ile) n.66C>A c.1087C>A (p.Leu363Ile) | |
| 14 | g.50915876C>A | CA486383290 | PYGL | c.1188G>T (p.Leu396=) n.65G>T c.1086G>T (p.Leu362=) | |
| 14 | g.50915876C= | CA2136419351 | PYGL | c.1188G= (p.Leu396=) n.65G= c.1086G= (p.Leu362=) | |
| 14 | g.50915876C>G | CA486383291 | PYGL | c.1188G>C (p.Leu396=) n.65G>C c.1086G>C (p.Leu362=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50915876C>T | CA7183534 | PYGL | c.1188G>A (p.Leu396=) n.65G>A c.1086G>A (p.Leu362=) | dbSNP ExAC gnomAD v2 |
| 14 | g.50915877A= | CA2136419352 | PYGL | c.1187T= (p.Leu396=) n.64T= c.1085T= (p.Leu362=) | |
| 14 | g.50915877A>C | CA389688529 | PYGL | c.1187T>G (p.Leu396Arg) n.64T>G c.1085T>G (p.Leu362Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50915877A>G | CA389688530 | PYGL | c.1187T>C (p.Leu396Pro) n.64T>C c.1085T>C (p.Leu362Pro) | |
| 14 | g.50915877A>T | CA389688532 | PYGL | c.1187T>A (p.Leu396Gln) n.64T>A c.1085T>A (p.Leu362Gln) | |
| 14 | g.50915878G>A | CA486383292 | PYGL | c.1186C>T (p.Leu396=) n.63C>T c.1084C>T (p.Leu362=) | |
| 14 | g.50915878G>C | CA389688534 | PYGL | c.1186C>G (p.Leu396Val) n.63C>G c.1084C>G (p.Leu362Val) | |
| 14 | g.50915878G>T | CA389688535 | PYGL | c.1186C>A (p.Leu396Met) n.63C>A c.1084C>A (p.Leu362Met) | |
| 14 | g.50915879C>A | CA389688538 | PYGL | c.1185G>T (p.Lys395Asn) n.62G>T c.1083G>T (p.Lys361Asn) | |
| 14 | g.50915879C>G | CA389688540 | PYGL | c.1185G>C (p.Lys395Asn) n.62G>C c.1083G>C (p.Lys361Asn) | |
| 14 | g.50915879C>T | CA486383293 | PYGL | c.1185G>A (p.Lys395=) n.62G>A c.1083G>A (p.Lys361=) | |
| 14 | g.50915880T>A | CA389688544 | PYGL | c.1184A>T (p.Lys395Met) n.61A>T c.1082A>T (p.Lys361Met) | |
| 14 | g.50915880T>C | CA389688546 | PYGL | c.1184A>G (p.Lys395Arg) n.61A>G c.1082A>G (p.Lys361Arg) | |
| 14 | g.50915880T>G | CA389688542 | PYGL | c.1184A>C (p.Lys395Thr) n.61A>C c.1082A>C (p.Lys361Thr) | |
| 14 | g.50915881T>A | CA389688552 | PYGL | c.1183A>T (p.Lys395Ter) n.60A>T c.1081A>T (p.Lys361Ter) | |
| 14 | g.50915881T>C | CA389688548 | PYGL | c.1183A>G (p.Lys395Glu) n.60A>G c.1081A>G (p.Lys361Glu) | |
| 14 | g.50915881T>G | CA389688550 | PYGL | c.1183A>C (p.Lys395Gln) n.60A>C c.1081A>C (p.Lys361Gln) | |
| 14 | g.50915881_50915912del | CA2575525319 | PYGL | c.1152_1183del (p.Leu385AlafsTer11) n.29_60del c.1050_1081del (p.Leu351AlafsTer11) | |
| 14 | g.50915882C>A | CA389688555 | PYGL | c.1182G>T (p.Glu394Asp) n.59G>T c.1080G>T (p.Glu360Asp) | |
| 14 | g.50915882C>G | CA389688556 | PYGL | c.1182G>C (p.Glu394Asp) n.59G>C c.1080G>C (p.Glu360Asp) | |
| 14 | g.50915882C>T | CA486383294 | PYGL | c.1182G>A (p.Glu394=) n.59G>A c.1080G>A (p.Glu360=) | gnomAD v4 |
| 14 | g.50915883T>A | CA389688559 | PYGL | c.1181A>T (p.Glu394Val) n.58A>T c.1079A>T (p.Glu360Val) | |
| 14 | g.50915883T>C | CA389688561 | PYGL | c.1181A>G (p.Glu394Gly) n.58A>G c.1079A>G (p.Glu360Gly) | |
| 14 | g.50915883T>G | CA389688562 | PYGL | c.1181A>C (p.Glu394Ala) n.58A>C c.1079A>C (p.Glu360Ala) |