Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50914748G>A | CA341908 | PYGL | c.1471C>T (p.Arg491Cys) c.1369C>T (p.Arg457Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50914748G>C | CA389687106 | PYGL | c.1471C>G (p.Arg491Gly) c.1369C>G (p.Arg457Gly) | |
14 | g.50914748G= | CA2136418879 | PYGL | c.1471C= (p.Arg491=) c.1369C= (p.Arg457=) | |
14 | g.50914748G>T | CA389687108 | PYGL | c.1471C>A (p.Arg491Ser) c.1369C>A (p.Arg457Ser) | |
14 | g.50914749C>A | CA389687109 | PYGL | c.1470G>T (p.Arg490Ser) c.1368G>T (p.Arg456Ser) | |
14 | g.50914749C>G | CA389687110 | PYGL | c.1470G>C (p.Arg490Ser) c.1368G>C (p.Arg456Ser) | |
14 | g.50914749C>T | CA486381913 | PYGL | c.1470G>A (p.Arg490=) c.1368G>A (p.Arg456=) | gnomAD v4 |
14 | g.50914750C>A | CA389687111 | PYGL | c.1469G>T (p.Arg490Met) c.1367G>T (p.Arg456Met) | |
14 | g.50914750C>G | CA389687112 | PYGL | c.1469G>C (p.Arg490Thr) c.1367G>C (p.Arg456Thr) | |
14 | g.50914750C>T | CA389687114 | PYGL | c.1469G>A (p.Arg490Lys) c.1367G>A (p.Arg456Lys) | |
14 | g.50914751T>A | CA389687115 | PYGL | c.1468A>T (p.Arg490Trp) c.1366A>T (p.Arg456Trp) | |
14 | g.50914751T>C | CA389687117 | PYGL | c.1468A>G (p.Arg490Gly) c.1366A>G (p.Arg456Gly) | |
14 | g.50914751T>G | CA486381914 | PYGL | c.1468A>C (p.Arg490=) c.1366A>C (p.Arg456=) | |
14 | g.50914752T>A | CA486381916 | PYGL | c.1467A>T (p.Pro489=) c.1365A>T (p.Pro455=) | |
14 | g.50914752T>C | CA486381917 | PYGL | c.1467A>G (p.Pro489=) c.1365A>G (p.Pro455=) | |
14 | g.50914752T>G | CA486381918 | PYGL | c.1467A>C (p.Pro489=) c.1365A>C (p.Pro455=) | |
14 | g.50914753G>A | CA389687119 | PYGL | c.1466C>T (p.Pro489Leu) c.1364C>T (p.Pro455Leu) | |
14 | g.50914753G>C | CA389687121 | PYGL | c.1466C>G (p.Pro489Arg) c.1364C>G (p.Pro455Arg) | |
14 | g.50914753G>T | CA389687122 | PYGL | c.1466C>A (p.Pro489Gln) c.1364C>A (p.Pro455Gln) | gnomAD v4 |
14 | g.50914754G>A | CA389687124 | PYGL | c.1465C>T (p.Pro489Ser) c.1363C>T (p.Pro455Ser) | dbSNP gnomAD v4 |
14 | g.50914754G>C | CA389687127 | PYGL | c.1465C>G (p.Pro489Ala) c.1363C>G (p.Pro455Ala) | |
14 | g.50914754G= | CA2136418880 | PYGL | c.1465C= (p.Pro489=) c.1363C= (p.Pro455=) | |
14 | g.50914754G>T | CA389687125 | PYGL | c.1465C>A (p.Pro489Thr) c.1363C>A (p.Pro455Thr) | |
14 | g.50914755A>C | CA486381920 | PYGL | c.1464T>G (p.Thr488=) c.1362T>G (p.Thr454=) | |
14 | g.50914755A>G | CA486381923 | PYGL | c.1464T>C (p.Thr488=) c.1362T>C (p.Thr454=) | gnomAD v4 |
14 | g.50914755A>T | CA486381921 | PYGL | c.1464T>A (p.Thr488=) c.1362T>A (p.Thr454=) | |
14 | g.50914756G>A | CA389687129 | PYGL | c.1463C>T (p.Thr488Ile) c.1361C>T (p.Thr454Ile) | gnomAD v4 |
14 | g.50914756G>C | CA260826186 | PYGL | c.1463C>G (p.Thr488Ser) c.1361C>G (p.Thr454Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50914756G= | CA2136418881 | PYGL | c.1463C= (p.Thr488=) c.1361C= (p.Thr454=) | |
14 | g.50914756G>T | CA389687131 | PYGL | c.1463C>A (p.Thr488Asn) c.1361C>A (p.Thr454Asn) | |
14 | g.50914757T>A | CA389687133 | PYGL | c.1462A>T (p.Thr488Ser) c.1360A>T (p.Thr454Ser) | gnomAD v4 |
14 | g.50914757T>C | CA389687135 | PYGL | c.1462A>G (p.Thr488Ala) c.1360A>G (p.Thr454Ala) | |
14 | g.50914757T>G | CA389687136 | PYGL | c.1462A>C (p.Thr488Pro) c.1360A>C (p.Thr454Pro) | |
14 | g.50914758G>A | CA486381924 | PYGL | c.1461C>T (p.Ile487=) c.1359C>T (p.Ile453=) | gnomAD v4 |
14 | g.50914758G>C | CA389687137 | PYGL | c.1461C>G (p.Ile487Met) c.1359C>G (p.Ile453Met) | |
14 | g.50914758G>T | CA486381927 | PYGL | c.1461C>A (p.Ile487=) c.1359C>A (p.Ile453=) | |
14 | g.50914759A>C | CA389687139 | PYGL | c.1460T>G (p.Ile487Ser) c.1358T>G (p.Ile453Ser) | |
14 | g.50914759A>G | CA389687141 | PYGL | c.1460T>C (p.Ile487Thr) c.1358T>C (p.Ile453Thr) | |
14 | g.50914759A>T | CA389687142 | PYGL | c.1460T>A (p.Ile487Asn) c.1358T>A (p.Ile453Asn) | |
14 | g.50914760T>A | CA389687147 | PYGL | c.1459A>T (p.Ile487Phe) c.1357A>T (p.Ile453Phe) | dbSNP gnomAD v4 |
14 | g.50914760T>C | CA389687146 | PYGL | c.1459A>G (p.Ile487Val) c.1357A>G (p.Ile453Val) | |
14 | g.50914760T>G | CA389687144 | PYGL | c.1459A>C (p.Ile487Leu) c.1357A>C (p.Ile453Leu) | |
14 | g.50914760T= | CA2136418882 | PYGL | c.1459A= (p.Ile487=) c.1357A= (p.Ile453=) | |
14 | g.50914761C>A | CA7183457 | PYGL | c.1458G>T (p.Gly486=) c.1356G>T (p.Gly452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50914761C= | CA2136418883 | PYGL | c.1458G= (p.Gly486=) c.1356G= (p.Gly452=) | |
14 | g.50914761C>G | CA486381930 | PYGL | c.1458G>C (p.Gly486=) c.1356G>C (p.Gly452=) | |
14 | g.50914761C>T | CA486381929 | PYGL | c.1458G>A (p.Gly486=) c.1356G>A (p.Gly452=) | dbSNP |
14 | g.50914762C>A | CA389687152 | PYGL | c.1457G>T (p.Gly486Val) c.1355G>T (p.Gly452Val) | |
14 | g.50914762C>G | CA389687148 | PYGL | c.1457G>C (p.Gly486Ala) c.1355G>C (p.Gly452Ala) | |
14 | g.50914762C>T | CA389687150 | PYGL | c.1457G>A (p.Gly486Glu) c.1355G>A (p.Gly452Glu) |