UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21546368A= | CA2021166889 | GYS2 | c.1525T= (p.Tyr509=) c.*1527T= (n.*1527T=) c.1306T= (p.Tyr436=) c.1294T= (p.Tyr432=) | |
| 12 | g.21546368A>C | CA384121828 | GYS2 | c.1525T>G (p.Tyr509Asp) c.*1527T>G (n.*1527T>G) c.1306T>G (p.Tyr436Asp) c.1294T>G (p.Tyr432Asp) | |
| 12 | g.21546368A>G | CA384121829 | GYS2 | c.1525T>C (p.Tyr509His) c.*1527T>C (n.*1527T>C) c.1306T>C (p.Tyr436His) c.1294T>C (p.Tyr432His) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21546368A>T | CA384121832 | GYS2 | c.1525T>A (p.Tyr509Asn) c.*1527T>A (n.*1527T>A) c.1306T>A (p.Tyr436Asn) c.1294T>A (p.Tyr432Asn) | |
| 12 | g.21546369G>A | CA478868700 | GYS2 | c.1524C>T (p.Tyr508=) c.*1526C>T (n.*1526C>T) c.1305C>T (p.Tyr435=) c.1293C>T (p.Tyr431=) | gnomAD v4 |
| 12 | g.21546369G>C | CA384121837 | GYS2 | c.1524C>G (p.Tyr508Ter) c.*1526C>G (n.*1526C>G) c.1305C>G (p.Tyr435Ter) c.1293C>G (p.Tyr431Ter) | |
| 12 | g.21546369G>T | CA384121839 | GYS2 | c.1524C>A (p.Tyr508Ter) c.*1526C>A (n.*1526C>A) c.1305C>A (p.Tyr435Ter) c.1293C>A (p.Tyr431Ter) | gnomAD v4 |
| 12 | g.21546370T>A | CA384121842 | GYS2 | c.1523A>T (p.Tyr508Phe) c.*1525A>T (n.*1525A>T) c.1304A>T (p.Tyr435Phe) c.1292A>T (p.Tyr431Phe) | |
| 12 | g.21546370T>C | CA384121847 | GYS2 | c.1523A>G (p.Tyr508Cys) c.*1525A>G (n.*1525A>G) c.1304A>G (p.Tyr435Cys) c.1292A>G (p.Tyr431Cys) | |
| 12 | g.21546370T>G | CA384121851 | GYS2 | c.1523A>C (p.Tyr508Ser) c.*1525A>C (n.*1525A>C) c.1304A>C (p.Tyr435Ser) c.1292A>C (p.Tyr431Ser) | |
| 12 | g.21546371A= | CA2021166893 | GYS2 | c.1522T= (p.Tyr508=) c.*1524T= (n.*1524T=) c.1303T= (p.Tyr435=) c.1291T= (p.Tyr431=) | |
| 12 | g.21546371A>C | CA16619498 | GYS2 | c.1522T>G (p.Tyr508Asp) c.*1524T>G (n.*1524T>G) c.1303T>G (p.Tyr435Asp) c.1291T>G (p.Tyr431Asp) | ClinVar dbSNP |
| 12 | g.21546371A>G | CA384121865 | GYS2 | c.1522T>C (p.Tyr508His) c.*1524T>C (n.*1524T>C) c.1303T>C (p.Tyr435His) c.1291T>C (p.Tyr431His) | |
| 12 | g.21546371A>T | CA384121890 | GYS2 | c.1522T>A (p.Tyr508Asn) c.*1524T>A (n.*1524T>A) c.1303T>A (p.Tyr435Asn) c.1291T>A (p.Tyr431Asn) | |
| 12 | g.21546372T>A | CA478868703 | GYS2 | c.1521A>T (p.Ser507=) c.*1523A>T (n.*1523A>T) c.1302A>T (p.Ser434=) c.1290A>T (p.Ser430=) | |
| 12 | g.21546372T>C | CA478868702 | GYS2 | c.1521A>G (p.Ser507=) c.*1523A>G (n.*1523A>G) c.1302A>G (p.Ser434=) c.1290A>G (p.Ser430=) | |
| 12 | g.21546372T>G | CA478868701 | GYS2 | c.1521A>C (p.Ser507=) c.*1523A>C (n.*1523A>C) c.1302A>C (p.Ser434=) c.1290A>C (p.Ser430=) | |
| 12 | g.21546373G>A | CA384121895 | GYS2 | c.1520C>T (p.Ser507Leu) c.*1522C>T (n.*1522C>T) c.1301C>T (p.Ser434Leu) c.1289C>T (p.Ser430Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.21546373G>C | CA384121894 | GYS2 | c.1520C>G (p.Ser507Ter) c.*1522C>G (n.*1522C>G) c.1301C>G (p.Ser434Ter) c.1289C>G (p.Ser430Ter) | |
| 12 | g.21546373G= | CA2021166897 | GYS2 | c.1520C= (p.Ser507=) c.*1522C= (n.*1522C=) c.1301C= (p.Ser434=) c.1289C= (p.Ser430=) | |
| 12 | g.21546373G>T | CA384121893 | GYS2 | c.1520C>A (p.Ser507Ter) c.*1522C>A (n.*1522C>A) c.1301C>A (p.Ser434Ter) c.1289C>A (p.Ser430Ter) | gnomAD v4 |
| 12 | g.21546374A= | CA2021166902 | GYS2 | c.1519T= (p.Ser507=) c.*1521T= (n.*1521T=) c.1300T= (p.Ser434=) c.1288T= (p.Ser430=) | |
| 12 | g.21546374A>C | CA384121897 | GYS2 | c.1519T>G (p.Ser507Ala) c.*1521T>G (n.*1521T>G) c.1300T>G (p.Ser434Ala) c.1288T>G (p.Ser430Ala) | |
| 12 | g.21546374A>G | CA233583535 | GYS2 | c.1519T>C (p.Ser507Pro) c.*1521T>C (n.*1521T>C) c.1300T>C (p.Ser434Pro) c.1288T>C (p.Ser430Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546374A>T | CA384121899 | GYS2 | c.1519T>A (p.Ser507Thr) c.*1521T>A (n.*1521T>A) c.1300T>A (p.Ser434Thr) c.1288T>A (p.Ser430Thr) | gnomAD v4 |
| 12 | g.21546375T>A | CA478868704 | GYS2 | c.1518A>T (p.Pro506=) c.*1520A>T (n.*1520A>T) c.1299A>T (p.Pro433=) c.1287A>T (p.Pro429=) | |
| 12 | g.21546375T>C | CA478868706 | GYS2 | c.1518A>G (p.Pro506=) c.*1520A>G (n.*1520A>G) c.1299A>G (p.Pro433=) c.1287A>G (p.Pro429=) | |
| 12 | g.21546375T>G | CA478868705 | GYS2 | c.1518A>C (p.Pro506=) c.*1520A>C (n.*1520A>C) c.1299A>C (p.Pro433=) c.1287A>C (p.Pro429=) | |
| 12 | g.21546376G>A | CA384121902 | GYS2 | c.1517C>T (p.Pro506Leu) c.*1519C>T (n.*1519C>T) c.1298C>T (p.Pro433Leu) c.1286C>T (p.Pro429Leu) | |
| 12 | g.21546376G>C | CA384121903 | GYS2 | c.1517C>G (p.Pro506Arg) c.*1519C>G (n.*1519C>G) c.1298C>G (p.Pro433Arg) c.1286C>G (p.Pro429Arg) | |
| 12 | g.21546376G>T | CA384121908 | GYS2 | c.1517C>A (p.Pro506Gln) c.*1519C>A (n.*1519C>A) c.1298C>A (p.Pro433Gln) c.1286C>A (p.Pro429Gln) | gnomAD v4 |
| 12 | g.21546377G>A | CA233583549 | GYS2 | c.1516C>T (p.Pro506Ser) c.*1518C>T (n.*1518C>T) c.1297C>T (p.Pro433Ser) c.1285C>T (p.Pro429Ser) | dbSNP |
| 12 | g.21546377G>C | CA6479801 | GYS2 | c.1516C>G (p.Pro506Ala) c.*1518C>G (n.*1518C>G) c.1297C>G (p.Pro433Ala) c.1285C>G (p.Pro429Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546377G= | CA2021166907 | GYS2 | c.1516C= (p.Pro506=) c.*1518C= (n.*1518C=) c.1297C= (p.Pro433=) c.1285C= (p.Pro429=) | |
| 12 | g.21546377G>T | CA384121927 | GYS2 | c.1516C>A (p.Pro506Thr) c.*1518C>A (n.*1518C>A) c.1297C>A (p.Pro433Thr) c.1285C>A (p.Pro429Thr) | gnomAD v4 |
| 12 | g.21546378A>C | CA384121938 | GYS2 | c.1515T>G (p.Phe505Leu) c.*1517T>G (n.*1517T>G) c.1296T>G (p.Phe432Leu) c.1284T>G (p.Phe428Leu) | |
| 12 | g.21546378A>G | CA478868707 | GYS2 | c.1515T>C (p.Phe505=) c.*1517T>C (n.*1517T>C) c.1296T>C (p.Phe432=) c.1284T>C (p.Phe428=) | |
| 12 | g.21546378A>T | CA384121940 | GYS2 | c.1515T>A (p.Phe505Leu) c.*1517T>A (n.*1517T>A) c.1296T>A (p.Phe432Leu) c.1284T>A (p.Phe428Leu) | |
| 12 | g.21546379A>C | CA384121950 | GYS2 | c.1514T>G (p.Phe505Cys) c.*1516T>G (n.*1516T>G) c.1295T>G (p.Phe432Cys) c.1283T>G (p.Phe428Cys) | |
| 12 | g.21546379A>G | CA384121949 | GYS2 | c.1514T>C (p.Phe505Ser) c.*1516T>C (n.*1516T>C) c.1295T>C (p.Phe432Ser) c.1283T>C (p.Phe428Ser) | |
| 12 | g.21546379A>T | CA384121947 | GYS2 | c.1514T>A (p.Phe505Tyr) c.*1516T>A (n.*1516T>A) c.1295T>A (p.Phe432Tyr) c.1283T>A (p.Phe428Tyr) | |
| 12 | g.21546380A>C | CA384121951 | GYS2 | c.1513T>G (p.Phe505Val) c.*1515T>G (n.*1515T>G) c.1294T>G (p.Phe432Val) c.1282T>G (p.Phe428Val) | |
| 12 | g.21546380A>G | CA384121958 | GYS2 | c.1513T>C (p.Phe505Leu) c.*1515T>C (n.*1515T>C) c.1294T>C (p.Phe432Leu) c.1282T>C (p.Phe428Leu) | |
| 12 | g.21546380A>T | CA384121966 | GYS2 | c.1513T>A (p.Phe505Ile) c.*1515T>A (n.*1515T>A) c.1294T>A (p.Phe432Ile) c.1282T>A (p.Phe428Ile) | |
| 12 | g.21546381T>A | CA478868708 | GYS2 | c.1512A>T (p.Val504=) c.*1514A>T (n.*1514A>T) c.1293A>T (p.Val431=) c.1281A>T (p.Val427=) | COSMIC |
| 12 | g.21546381T>C | CA6479802 | GYS2 | c.1512A>G (p.Val504=) c.*1514A>G (n.*1514A>G) c.1293A>G (p.Val431=) c.1281A>G (p.Val427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546381T>G | CA478868709 | GYS2 | c.1512A>C (p.Val504=) c.*1514A>C (n.*1514A>C) c.1293A>C (p.Val431=) c.1281A>C (p.Val427=) | |
| 12 | g.21546381T= | CA2021166911 | GYS2 | c.1512A= (p.Val504=) c.*1514A= (n.*1514A=) c.1293A= (p.Val431=) c.1281A= (p.Val427=) | |
| 12 | g.21546382A>C | CA384121983 | GYS2 | c.1511T>G (p.Val504Gly) c.*1513T>G (n.*1513T>G) c.1292T>G (p.Val431Gly) c.1280T>G (p.Val427Gly) | |
| 12 | g.21546382A>G | CA384122016 | GYS2 | c.1511T>C (p.Val504Ala) c.*1513T>C (n.*1513T>C) c.1292T>C (p.Val431Ala) c.1280T>C (p.Val427Ala) | |
| 12 | g.21546382A>T | CA384122022 | GYS2 | c.1511T>A (p.Val504Glu) c.*1513T>A (n.*1513T>A) c.1292T>A (p.Val431Glu) c.1280T>A (p.Val427Glu) | |
| 12 | g.21546383C>A | CA384122023 | GYS2 | c.1510G>T (p.Val504Leu) c.*1512G>T (n.*1512G>T) c.1291G>T (p.Val431Leu) c.1279G>T (p.Val427Leu) | |
| 12 | g.21546383C= | CA2021166915 | GYS2 | c.1510G= (p.Val504=) c.*1512G= (n.*1512G=) c.1291G= (p.Val431=) c.1279G= (p.Val427=) | |
| 12 | g.21546383C>G | CA384122024 | GYS2 | c.1510G>C (p.Val504Leu) c.*1512G>C (n.*1512G>C) c.1291G>C (p.Val431Leu) c.1279G>C (p.Val427Leu) | |
| 12 | g.21546383C>T | CA384122038 | GYS2 | c.1510G>A (p.Val504Ile) c.*1512G>A (n.*1512G>A) c.1291G>A (p.Val431Ile) c.1279G>A (p.Val427Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546383_21546384insA | CA2523817921 | GYS2 | c.1509_1510insT (p.Val504CysfsTer7) c.*1511_*1512insT (n.*1511_*1512insT) c.1290_1291insT (p.Val431CysfsTer7) c.1278_1279insT (p.Val427CysfsTer7) | |
| 12 | g.21546384T>A | CA478868710 | GYS2 | c.1509A>T (p.Gly503=) c.*1511A>T (n.*1511A>T) c.1290A>T (p.Gly430=) c.1278A>T (p.Gly426=) | |
| 12 | g.21546384T>C | CA478868711 | GYS2 | c.1509A>G (p.Gly503=) c.*1511A>G (n.*1511A>G) c.1290A>G (p.Gly430=) c.1278A>G (p.Gly426=) | |
| 12 | g.21546384T>G | CA478868712 | GYS2 | c.1509A>C (p.Gly503=) c.*1511A>C (n.*1511A>C) c.1290A>C (p.Gly430=) c.1278A>C (p.Gly426=) | |
| 12 | g.21546385C>A | CA384122058 | GYS2 | c.1508G>T (p.Gly503Val) c.*1510G>T (n.*1510G>T) c.1289G>T (p.Gly430Val) c.1277G>T (p.Gly426Val) | gnomAD v4 |
| 12 | g.21546385C= | CA2021166920 | GYS2 | c.1508G= (p.Gly503=) c.*1510G= (n.*1510G=) c.1289G= (p.Gly430=) c.1277G= (p.Gly426=) | |
| 12 | g.21546385C>G | CA384122067 | GYS2 | c.1508G>C (p.Gly503Ala) c.*1510G>C (n.*1510G>C) c.1289G>C (p.Gly430Ala) c.1277G>C (p.Gly426Ala) | gnomAD v4 |
| 12 | g.21546385C>T | CA6479803 | GYS2 | c.1508G>A (p.Gly503Glu) c.*1510G>A (n.*1510G>A) c.1289G>A (p.Gly430Glu) c.1277G>A (p.Gly426Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546386C>A | CA384122080 | GYS2 | c.1507G>T (p.Gly503Ter) c.*1509G>T (n.*1509G>T) c.1288G>T (p.Gly430Ter) c.1276G>T (p.Gly426Ter) | |
| 12 | g.21546386C>G | CA384122084 | GYS2 | c.1507G>C (p.Gly503Arg) c.*1509G>C (n.*1509G>C) c.1288G>C (p.Gly430Arg) c.1276G>C (p.Gly426Arg) | |
| 12 | g.21546386C>T | CA384122078 | GYS2 | c.1507G>A (p.Gly503Arg) c.*1509G>A (n.*1509G>A) c.1288G>A (p.Gly430Arg) c.1276G>A (p.Gly426Arg) | COSMIC |
| 12 | g.21546387A= | CA2021166922 | GYS2 | c.1506T= (p.Leu502=) c.*1508T= (n.*1508T=) c.1287T= (p.Leu429=) c.1275T= (p.Leu425=) | |
| 12 | g.21546387A>C | CA478868713 | GYS2 | c.1506T>G (p.Leu502=) c.*1508T>G (n.*1508T>G) c.1287T>G (p.Leu429=) c.1275T>G (p.Leu425=) | |
| 12 | g.21546387A>G | CA478868714 | GYS2 | c.1506T>C (p.Leu502=) c.*1508T>C (n.*1508T>C) c.1287T>C (p.Leu429=) c.1275T>C (p.Leu425=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546387A>T | CA478868715 | GYS2 | c.1506T>A (p.Leu502=) c.*1508T>A (n.*1508T>A) c.1287T>A (p.Leu429=) c.1275T>A (p.Leu425=) | |
| 12 | g.21546388A>C | CA384122110 | GYS2 | c.1505T>G (p.Leu502Arg) c.*1507T>G (n.*1507T>G) c.1286T>G (p.Leu429Arg) c.1274T>G (p.Leu425Arg) | |
| 12 | g.21546388A>G | CA384122094 | GYS2 | c.1505T>C (p.Leu502Pro) c.*1507T>C (n.*1507T>C) c.1286T>C (p.Leu429Pro) c.1274T>C (p.Leu425Pro) | |
| 12 | g.21546388A>T | CA384122104 | GYS2 | c.1505T>A (p.Leu502His) c.*1507T>A (n.*1507T>A) c.1286T>A (p.Leu429His) c.1274T>A (p.Leu425His) | |
| 12 | g.21546389G>A | CA384122116 | GYS2 | c.1504C>T (p.Leu502Phe) c.*1506C>T (n.*1506C>T) c.1285C>T (p.Leu429Phe) c.1273C>T (p.Leu425Phe) | |
| 12 | g.21546389G>C | CA384122124 | GYS2 | c.1504C>G (p.Leu502Val) c.*1506C>G (n.*1506C>G) c.1285C>G (p.Leu429Val) c.1273C>G (p.Leu425Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21546389G= | CA2021166924 | GYS2 | c.1504C= (p.Leu502=) c.*1506C= (n.*1506C=) c.1285C= (p.Leu429=) c.1273C= (p.Leu425=) | |
| 12 | g.21546389G>T | CA384122129 | GYS2 | c.1504C>A (p.Leu502Ile) c.*1506C>A (n.*1506C>A) c.1285C>A (p.Leu429Ile) c.1273C>A (p.Leu425Ile) | |
| 12 | g.21546390del | CA2540409042 | GYS2 | c.1503del (p.Gly503GlufsTer19) c.*1505del (n.*1505del) c.1284del (p.Gly430GlufsTer19) c.1272del (p.Gly426GlufsTer19) | |
| 12 | g.21546390A>C | CA384122131 | GYS2 | c.1503T>G (p.His501Gln) c.*1505T>G (n.*1505T>G) c.1284T>G (p.His428Gln) c.1272T>G (p.His424Gln) | |
| 12 | g.21546390A>G | CA478868716 | GYS2 | c.1503T>C (p.His501=) c.*1505T>C (n.*1505T>C) c.1284T>C (p.His428=) c.1272T>C (p.His424=) | |
| 12 | g.21546390A>T | CA384122133 | GYS2 | c.1503T>A (p.His501Gln) c.*1505T>A (n.*1505T>A) c.1284T>A (p.His428Gln) c.1272T>A (p.His424Gln) | |
| 12 | g.21546391T>A | CA384122136 | GYS2 | c.1502A>T (p.His501Leu) c.*1504A>T (n.*1504A>T) c.1283A>T (p.His428Leu) c.1271A>T (p.His424Leu) | |
| 12 | g.21546391T>C | CA384122146 | GYS2 | c.1502A>G (p.His501Arg) c.*1504A>G (n.*1504A>G) c.1283A>G (p.His428Arg) c.1271A>G (p.His424Arg) | dbSNP |
| 12 | g.21546391T>G | CA6479804 | GYS2 | c.1502A>C (p.His501Pro) c.*1504A>C (n.*1504A>C) c.1283A>C (p.His428Pro) c.1271A>C (p.His424Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546391T= | CA2021166927 | GYS2 | c.1502A= (p.His501=) c.*1504A= (n.*1504A=) c.1283A= (p.His428=) c.1271A= (p.His424=) | |
| 12 | g.21546392G>A | CA384122154 | GYS2 | c.1501C>T (p.His501Tyr) c.*1503C>T (n.*1503C>T) c.1282C>T (p.His428Tyr) c.1270C>T (p.His424Tyr) | gnomAD v4 |
| 12 | g.21546392G>C | CA384122155 | GYS2 | c.1501C>G (p.His501Asp) c.*1503C>G (n.*1503C>G) c.1282C>G (p.His428Asp) c.1270C>G (p.His424Asp) | |
| 12 | g.21546392G>T | CA384122156 | GYS2 | c.1501C>A (p.His501Asn) c.*1503C>A (n.*1503C>A) c.1282C>A (p.His428Asn) c.1270C>A (p.His424Asn) | |
| 12 | g.21546393A>C | CA384122159 | GYS2 | c.1500T>G (p.Cys500Trp) c.*1502T>G (n.*1502T>G) c.1281T>G (p.Cys427Trp) c.1269T>G (p.Cys423Trp) | |
| 12 | g.21546393A>G | CA478868717 | GYS2 | c.1500T>C (p.Cys500=) c.*1502T>C (n.*1502T>C) c.1281T>C (p.Cys427=) c.1269T>C (p.Cys423=) | gnomAD v4 |
| 12 | g.21546393A>T | CA384122162 | GYS2 | c.1500T>A (p.Cys500Ter) c.*1502T>A (n.*1502T>A) c.1281T>A (p.Cys427Ter) c.1269T>A (p.Cys423Ter) | |
| 12 | g.21546394C>A | CA384122174 | GYS2 | c.1499G>T (p.Cys500Phe) c.*1501G>T (n.*1501G>T) c.1280G>T (p.Cys427Phe) c.1268G>T (p.Cys423Phe) | |
| 12 | g.21546394C>G | CA384122194 | GYS2 | c.1499G>C (p.Cys500Ser) c.*1501G>C (n.*1501G>C) c.1280G>C (p.Cys427Ser) c.1268G>C (p.Cys423Ser) | |
| 12 | g.21546394C>T | CA384122203 | GYS2 | c.1499G>A (p.Cys500Tyr) c.*1501G>A (n.*1501G>A) c.1280G>A (p.Cys427Tyr) c.1268G>A (p.Cys423Tyr) | |
| 12 | g.21546395A>C | CA384122208 | GYS2 | c.1498T>G (p.Cys500Gly) c.*1500T>G (n.*1500T>G) c.1279T>G (p.Cys427Gly) c.1267T>G (p.Cys423Gly) | |
| 12 | g.21546395A>G | CA384122209 | GYS2 | c.1498T>C (p.Cys500Arg) c.*1500T>C (n.*1500T>C) c.1279T>C (p.Cys427Arg) c.1267T>C (p.Cys423Arg) | |
| 12 | g.21546395A>T | CA384122210 | GYS2 | c.1498T>A (p.Cys500Ser) c.*1500T>A (n.*1500T>A) c.1279T>A (p.Cys427Ser) c.1267T>A (p.Cys423Ser) | |
| 12 | g.21546396A= | CA2021166930 | GYS2 | c.1497T= (p.Gly499=) c.*1499T= (n.*1499T=) c.1278T= (p.Gly426=) c.1266T= (p.Gly422=) | |
| 12 | g.21546396A>C | CA478868720 | GYS2 | c.1497T>G (p.Gly499=) c.*1499T>G (n.*1499T>G) c.1278T>G (p.Gly426=) c.1266T>G (p.Gly422=) | |
| 12 | g.21546396A>G | CA478868718 | GYS2 | c.1497T>C (p.Gly499=) c.*1499T>C (n.*1499T>C) c.1278T>C (p.Gly426=) c.1266T>C (p.Gly422=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546396A>T | CA478868719 | GYS2 | c.1497T>A (p.Gly499=) c.*1499T>A (n.*1499T>A) c.1278T>A (p.Gly426=) c.1266T>A (p.Gly422=) | |
| 12 | g.21546397C>A | CA384122211 | GYS2 | c.1496G>T (p.Gly499Val) c.*1498G>T (n.*1498G>T) c.1277G>T (p.Gly426Val) c.1265G>T (p.Gly422Val) | |
| 12 | g.21546397C>G | CA384122215 | GYS2 | c.1496G>C (p.Gly499Ala) c.*1498G>C (n.*1498G>C) c.1277G>C (p.Gly426Ala) c.1265G>C (p.Gly422Ala) | |
| 12 | g.21546397C>T | CA384122220 | GYS2 | c.1496G>A (p.Gly499Asp) c.*1498G>A (n.*1498G>A) c.1277G>A (p.Gly426Asp) c.1265G>A (p.Gly422Asp) | gnomAD v4 |
| 12 | g.21546398C>A | CA384122230 | GYS2 | c.1495G>T (p.Gly499Cys) c.*1497G>T (n.*1497G>T) c.1276G>T (p.Gly426Cys) c.1264G>T (p.Gly422Cys) | |
| 12 | g.21546398C>G | CA384122238 | GYS2 | c.1495G>C (p.Gly499Arg) c.*1497G>C (n.*1497G>C) c.1276G>C (p.Gly426Arg) c.1264G>C (p.Gly422Arg) | |
| 12 | g.21546398C>T | CA384122247 | GYS2 | c.1495G>A (p.Gly499Ser) c.*1497G>A (n.*1497G>A) c.1276G>A (p.Gly426Ser) c.1264G>A (p.Gly422Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546399T>A | CA384122258 | GYS2 | c.1494A>T (p.Arg498Ser) c.*1496A>T (n.*1496A>T) c.1275A>T (p.Arg425Ser) c.1263A>T (p.Arg421Ser) | |
| 12 | g.21546399T>C | CA478868721 | GYS2 | c.1494A>G (p.Arg498=) c.*1496A>G (n.*1496A>G) c.1275A>G (p.Arg425=) c.1263A>G (p.Arg421=) | |
| 12 | g.21546399T>G | CA384122253 | GYS2 | c.1494A>C (p.Arg498Ser) c.*1496A>C (n.*1496A>C) c.1275A>C (p.Arg425Ser) c.1263A>C (p.Arg421Ser) | |
| 12 | g.21546400C>A | CA384122266 | GYS2 | c.1493G>T (p.Arg498Ile) c.*1495G>T (n.*1495G>T) c.1274G>T (p.Arg425Ile) c.1262G>T (p.Arg421Ile) | |
| 12 | g.21546400C= | CA2021166933 | GYS2 | c.1493G= (p.Arg498=) c.*1495G= (n.*1495G=) c.1274G= (p.Arg425=) c.1262G= (p.Arg421=) | |
| 12 | g.21546400C>G | CA384122269 | GYS2 | c.1493G>C (p.Arg498Thr) c.*1495G>C (n.*1495G>C) c.1274G>C (p.Arg425Thr) c.1262G>C (p.Arg421Thr) | |
| 12 | g.21546400C>T | CA6479805 | GYS2 | c.1493G>A (p.Arg498Lys) c.*1495G>A (n.*1495G>A) c.1274G>A (p.Arg425Lys) c.1262G>A (p.Arg421Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546401T>A | CA384122273 | GYS2 | c.1492A>T (p.Arg498Ter) c.*1494A>T (n.*1494A>T) c.1273A>T (p.Arg425Ter) c.1261A>T (p.Arg421Ter) | |
| 12 | g.21546401T>C | CA384122285 | GYS2 | c.1492A>G (p.Arg498Gly) c.*1494A>G (n.*1494A>G) c.1273A>G (p.Arg425Gly) c.1261A>G (p.Arg421Gly) | |
| 12 | g.21546401T>G | CA478868722 | GYS2 | c.1492A>C (p.Arg498=) c.*1494A>C (n.*1494A>C) c.1273A>C (p.Arg425=) c.1261A>C (p.Arg421=) | |
| 12 | g.21546402A= | CA2021166935 | GYS2 | c.1491T= (p.Val497=) c.*1493T= (n.*1493T=) c.1272T= (p.Val424=) c.1260T= (p.Val420=) | |
| 12 | g.21546402A>C | CA478868725 | GYS2 | c.1491T>G (p.Val497=) c.*1493T>G (n.*1493T>G) c.1272T>G (p.Val424=) c.1260T>G (p.Val420=) | |
| 12 | g.21546402A>G | CA478868723 | GYS2 | c.1491T>C (p.Val497=) c.*1493T>C (n.*1493T>C) c.1272T>C (p.Val424=) c.1260T>C (p.Val420=) | dbSNP |
| 12 | g.21546402A>T | CA478868724 | GYS2 | c.1491T>A (p.Val497=) c.*1493T>A (n.*1493T>A) c.1272T>A (p.Val424=) c.1260T>A (p.Val420=) | |
| 12 | g.21546403A>C | CA384122288 | GYS2 | c.1490T>G (p.Val497Gly) c.*1492T>G (n.*1492T>G) c.1271T>G (p.Val424Gly) c.1259T>G (p.Val420Gly) | gnomAD v4 |
| 12 | g.21546403A>G | CA384122291 | GYS2 | c.1490T>C (p.Val497Ala) c.*1492T>C (n.*1492T>C) c.1271T>C (p.Val424Ala) c.1259T>C (p.Val420Ala) | |
| 12 | g.21546403A>T | CA384122299 | GYS2 | c.1490T>A (p.Val497Asp) c.*1492T>A (n.*1492T>A) c.1271T>A (p.Val424Asp) c.1259T>A (p.Val420Asp) | |
| 12 | g.21546404C>A | CA384122304 | GYS2 | c.1489G>T (p.Val497Phe) c.*1491G>T (n.*1491G>T) c.1270G>T (p.Val424Phe) c.1258G>T (p.Val420Phe) | |
| 12 | g.21546404C>G | CA384122305 | GYS2 | c.1489G>C (p.Val497Leu) c.*1491G>C (n.*1491G>C) c.1270G>C (p.Val424Leu) c.1258G>C (p.Val420Leu) | |
| 12 | g.21546404C>T | CA384122306 | GYS2 | c.1489G>A (p.Val497Ile) c.*1491G>A (n.*1491G>A) c.1270G>A (p.Val424Ile) c.1258G>A (p.Val420Ile) | |
| 12 | g.21546405A>C | CA384122308 | GYS2 | c.1488T>G (p.Phe496Leu) c.*1490T>G (n.*1490T>G) c.1269T>G (p.Phe423Leu) c.1257T>G (p.Phe419Leu) | |
| 12 | g.21546405A>G | CA478868726 | GYS2 | c.1488T>C (p.Phe496=) c.*1490T>C (n.*1490T>C) c.1269T>C (p.Phe423=) c.1257T>C (p.Phe419=) | |
| 12 | g.21546405A>T | CA384122312 | GYS2 | c.1488T>A (p.Phe496Leu) c.*1490T>A (n.*1490T>A) c.1269T>A (p.Phe423Leu) c.1257T>A (p.Phe419Leu) | |
| 12 | g.21546406A>C | CA384122327 | GYS2 | c.1487T>G (p.Phe496Cys) c.*1489T>G (n.*1489T>G) c.1268T>G (p.Phe423Cys) c.1256T>G (p.Phe419Cys) | |
| 12 | g.21546406A>G | CA384122329 | GYS2 | c.1487T>C (p.Phe496Ser) c.*1489T>C (n.*1489T>C) c.1268T>C (p.Phe423Ser) c.1256T>C (p.Phe419Ser) | |
| 12 | g.21546406A>T | CA384122319 | GYS2 | c.1487T>A (p.Phe496Tyr) c.*1489T>A (n.*1489T>A) c.1268T>A (p.Phe423Tyr) c.1256T>A (p.Phe419Tyr) | |
| 12 | g.21546407A>C | CA384122335 | GYS2 | c.1486T>G (p.Phe496Val) c.*1488T>G (n.*1488T>G) c.1267T>G (p.Phe423Val) c.1255T>G (p.Phe419Val) | |
| 12 | g.21546407A>G | CA384122337 | GYS2 | c.1486T>C (p.Phe496Leu) c.*1488T>C (n.*1488T>C) c.1267T>C (p.Phe423Leu) c.1255T>C (p.Phe419Leu) | |
| 12 | g.21546407A>T | CA384122339 | GYS2 | c.1486T>A (p.Phe496Ile) c.*1488T>A (n.*1488T>A) c.1267T>A (p.Phe423Ile) c.1255T>A (p.Phe419Ile) | |
| 12 | g.21546408C>A | CA384122341 | GYS2 | c.1485G>T (p.Glu495Asp) c.*1487G>T (n.*1487G>T) c.1266G>T (p.Glu422Asp) c.1254G>T (p.Glu418Asp) | |
| 12 | g.21546408C= | CA2021166939 | GYS2 | c.1485G= (p.Glu495=) c.*1487G= (n.*1487G=) c.1266G= (p.Glu422=) c.1254G= (p.Glu418=) | |
| 12 | g.21546408C>G | CA384122344 | GYS2 | c.1485G>C (p.Glu495Asp) c.*1487G>C (n.*1487G>C) c.1266G>C (p.Glu422Asp) c.1254G>C (p.Glu418Asp) | |
| 12 | g.21546408C>T | CA6479806 | GYS2 | c.1485G>A (p.Glu495=) c.*1487G>A (n.*1487G>A) c.1266G>A (p.Glu422=) c.1254G>A (p.Glu418=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546409T>A | CA384122352 | GYS2 | c.1484A>T (p.Glu495Val) c.*1486A>T (n.*1486A>T) c.1265A>T (p.Glu422Val) c.1253A>T (p.Glu418Val) | |
| 12 | g.21546409T>C | CA384122363 | GYS2 | c.1484A>G (p.Glu495Gly) c.*1486A>G (n.*1486A>G) c.1265A>G (p.Glu422Gly) c.1253A>G (p.Glu418Gly) | |
| 12 | g.21546409T>G | CA384122358 | GYS2 | c.1484A>C (p.Glu495Ala) c.*1486A>C (n.*1486A>C) c.1265A>C (p.Glu422Ala) c.1253A>C (p.Glu418Ala) | |
| 12 | g.21546410C>A | CA384122365 | GYS2 | c.1483G>T (p.Glu495Ter) c.*1485G>T (n.*1485G>T) c.1264G>T (p.Glu422Ter) c.1252G>T (p.Glu418Ter) | |
| 12 | g.21546410C= | CA2021166947 | GYS2 | c.1483G= (p.Glu495=) c.*1485G= (n.*1485G=) c.1264G= (p.Glu422=) c.1252G= (p.Glu418=) | |
| 12 | g.21546410C>G | CA6479807 | GYS2 | c.1483G>C (p.Glu495Gln) c.*1485G>C (n.*1485G>C) c.1264G>C (p.Glu422Gln) c.1252G>C (p.Glu418Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546410C>T | CA384122367 | GYS2 | c.1483G>A (p.Glu495Lys) c.*1485G>A (n.*1485G>A) c.1264G>A (p.Glu422Lys) c.1252G>A (p.Glu418Lys) | gnomAD v4 COSMIC |
| 12 | g.21546411T>A | CA384122375 | GYS2 | c.1482A>T (p.Glu494Asp) c.*1484A>T (n.*1484A>T) c.1263A>T (p.Glu421Asp) c.1251A>T (p.Glu417Asp) | |
| 12 | g.21546411T>C | CA478868727 | GYS2 | c.1482A>G (p.Glu494=) c.*1484A>G (n.*1484A>G) c.1263A>G (p.Glu421=) c.1251A>G (p.Glu417=) | dbSNP |
| 12 | g.21546411T>G | CA384122378 | GYS2 | c.1482A>C (p.Glu494Asp) c.*1484A>C (n.*1484A>C) c.1263A>C (p.Glu421Asp) c.1251A>C (p.Glu417Asp) | gnomAD v4 |
| 12 | g.21546411T= | CA2021166952 | GYS2 | c.1482A= (p.Glu494=) c.*1484A= (n.*1484A=) c.1263A= (p.Glu421=) c.1251A= (p.Glu417=) | |
| 12 | g.21546412T>A | CA384122395 | GYS2 | c.1481A>T (p.Glu494Val) c.*1483A>T (n.*1483A>T) c.1262A>T (p.Glu421Val) c.1250A>T (p.Glu417Val) | gnomAD v4 |
| 12 | g.21546412T>C | CA384122407 | GYS2 | c.1481A>G (p.Glu494Gly) c.*1483A>G (n.*1483A>G) c.1262A>G (p.Glu421Gly) c.1250A>G (p.Glu417Gly) | |
| 12 | g.21546412T>G | CA384122388 | GYS2 | c.1481A>C (p.Glu494Ala) c.*1483A>C (n.*1483A>C) c.1262A>C (p.Glu421Ala) c.1250A>C (p.Glu417Ala) | |
| 12 | g.21546413C>A | CA384122425 | GYS2 | c.1480G>T (p.Glu494Ter) c.*1482G>T (n.*1482G>T) c.1261G>T (p.Glu421Ter) c.1249G>T (p.Glu417Ter) | |
| 12 | g.21546413C= | CA2021166958 | GYS2 | c.1480G= (p.Glu494=) c.*1482G= (n.*1482G=) c.1261G= (p.Glu421=) c.1249G= (p.Glu417=) | |
| 12 | g.21546413C>G | CA384122414 | GYS2 | c.1480G>C (p.Glu494Gln) c.*1482G>C (n.*1482G>C) c.1261G>C (p.Glu421Gln) c.1249G>C (p.Glu417Gln) | |
| 12 | g.21546413C>T | CA233583590 | GYS2 | c.1480G>A (p.Glu494Lys) c.*1482G>A (n.*1482G>A) c.1261G>A (p.Glu421Lys) c.1249G>A (p.Glu417Lys) | dbSNP |
| 12 | g.21546414A>C | CA384122433 | GYS2 | c.1479T>G (p.Tyr493Ter) c.*1481T>G (n.*1481T>G) c.1260T>G (p.Tyr420Ter) c.1248T>G (p.Tyr416Ter) | |
| 12 | g.21546414A>G | CA478868728 | GYS2 | c.1479T>C (p.Tyr493=) c.*1481T>C (n.*1481T>C) c.1260T>C (p.Tyr420=) c.1248T>C (p.Tyr416=) | gnomAD v4 |
| 12 | g.21546414A>T | CA384122437 | GYS2 | c.1479T>A (p.Tyr493Ter) c.*1481T>A (n.*1481T>A) c.1260T>A (p.Tyr420Ter) c.1248T>A (p.Tyr416Ter) | |
| 12 | g.21546415T>A | CA384122444 | GYS2 | c.1478A>T (p.Tyr493Phe) c.*1480A>T (n.*1480A>T) c.1259A>T (p.Tyr420Phe) c.1247A>T (p.Tyr416Phe) | |
| 12 | g.21546415T>C | CA384122447 | GYS2 | c.1478A>G (p.Tyr493Cys) c.*1480A>G (n.*1480A>G) c.1259A>G (p.Tyr420Cys) c.1247A>G (p.Tyr416Cys) | |
| 12 | g.21546415T>G | CA384122452 | GYS2 | c.1478A>C (p.Tyr493Ser) c.*1480A>C (n.*1480A>C) c.1259A>C (p.Tyr420Ser) c.1247A>C (p.Tyr416Ser) | |
| 12 | g.21546416A= | CA2021166963 | GYS2 | c.1477T= (p.Tyr493=) c.*1479T= (n.*1479T=) c.1258T= (p.Tyr420=) c.1246T= (p.Tyr416=) | |
| 12 | g.21546416A>C | CA384122453 | GYS2 | c.1477T>G (p.Tyr493Asp) c.*1479T>G (n.*1479T>G) c.1258T>G (p.Tyr420Asp) c.1246T>G (p.Tyr416Asp) | |
| 12 | g.21546416A>G | CA384122454 | GYS2 | c.1477T>C (p.Tyr493His) c.*1479T>C (n.*1479T>C) c.1258T>C (p.Tyr420His) c.1246T>C (p.Tyr416His) | dbSNP |
| 12 | g.21546416A>T | CA6479808 | GYS2 | c.1477T>A (p.Tyr493Asn) c.*1479T>A (n.*1479T>A) c.1258T>A (p.Tyr420Asn) c.1246T>A (p.Tyr416Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546417G>A | CA6479809 | GYS2 | c.1476C>T (p.Asp492=) c.*1478C>T (n.*1478C>T) c.1257C>T (p.Asp419=) c.1245C>T (p.Asp415=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546417G>C | CA384122457 | GYS2 | c.1476C>G (p.Asp492Glu) c.*1478C>G (n.*1478C>G) c.1257C>G (p.Asp419Glu) c.1245C>G (p.Asp415Glu) | |
| 12 | g.21546417G= | CA2021166971 | GYS2 | c.1476C= (p.Asp492=) c.*1478C= (n.*1478C=) c.1257C= (p.Asp419=) c.1245C= (p.Asp415=) | |
| 12 | g.21546417G>T | CA384122460 | GYS2 | c.1476C>A (p.Asp492Glu) c.*1478C>A (n.*1478C>A) c.1257C>A (p.Asp419Glu) c.1245C>A (p.Asp415Glu) | |
| 12 | g.21546418T>A | CA16619499 | GYS2 | c.1475A>T (p.Asp492Val) c.*1477A>T (n.*1477A>T) c.1256A>T (p.Asp419Val) c.1244A>T (p.Asp415Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546418T>C | CA384122474 | GYS2 | c.1475A>G (p.Asp492Gly) c.*1477A>G (n.*1477A>G) c.1256A>G (p.Asp419Gly) c.1244A>G (p.Asp415Gly) | |
| 12 | g.21546418T>G | CA384122469 | GYS2 | c.1475A>C (p.Asp492Ala) c.*1477A>C (n.*1477A>C) c.1256A>C (p.Asp419Ala) c.1244A>C (p.Asp415Ala) | |
| 12 | g.21546418T= | CA2021166978 | GYS2 | c.1475A= (p.Asp492=) c.*1477A= (n.*1477A=) c.1256A= (p.Asp419=) c.1244A= (p.Asp415=) | |
| 12 | g.21546419C>A | CA384122482 | GYS2 | c.1474G>T (p.Asp492Tyr) c.*1476G>T (n.*1476G>T) c.1255G>T (p.Asp419Tyr) c.1243G>T (p.Asp415Tyr) | gnomAD v4 COSMIC |
| 12 | g.21546419C= | CA2021166985 | GYS2 | c.1474G= (p.Asp492=) c.*1476G= (n.*1476G=) c.1255G= (p.Asp419=) c.1243G= (p.Asp415=) | |
| 12 | g.21546419C>G | CA6479810 | GYS2 | c.1474G>C (p.Asp492His) c.*1476G>C (n.*1476G>C) c.1255G>C (p.Asp419His) c.1243G>C (p.Asp415His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.21546419C>T | CA384122490 | GYS2 | c.1474G>A (p.Asp492Asn) c.*1476G>A (n.*1476G>A) c.1255G>A (p.Asp419Asn) c.1243G>A (p.Asp415Asn) | |
| 12 | g.21546420C>A | CA384122494 | GYS2 | c.1473G>T (p.Met491Ile) c.*1475G>T (n.*1475G>T) c.1254G>T (p.Met418Ile) c.1242G>T (p.Met414Ile) | |
| 12 | g.21546420C>G | CA384122497 | GYS2 | c.1473G>C (p.Met491Ile) c.*1475G>C (n.*1475G>C) c.1254G>C (p.Met418Ile) c.1242G>C (p.Met414Ile) | |
| 12 | g.21546420C>T | CA384122511 | GYS2 | c.1473G>A (p.Met491Ile) c.*1475G>A (n.*1475G>A) c.1254G>A (p.Met418Ile) c.1242G>A (p.Met414Ile) | |
| 12 | g.21546420_21546421insCTTACTACCCATGGACT | CA2617922616 | GYS2 | c.1472_1473insAGTCCATGGGTAGTAAG (p.Met491IlefsTer5) c.*1474_*1475insAGTCCATGGGTAGTAAG (n.*1474_*1475insAGTCCATGGGTAGTAAG) c.1253_1254insAGTCCATGGGTAGTAAG (p.Met418IlefsTer5) c.1241_1242insAGTCCATGGGTAGTAAG (p.Met414IlefsTer5) | gnomAD v4 |
| 12 | g.21546421A= | CA2021166988 | GYS2 | c.1472T= (p.Met491=) c.*1474T= (n.*1474T=) c.1253T= (p.Met418=) c.1241T= (p.Met414=) | |
| 12 | g.21546421A>C | CA126172 | GYS2 | c.1472T>G (p.Met491Arg) c.*1474T>G (n.*1474T>G) c.1253T>G (p.Met418Arg) c.1241T>G (p.Met414Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546421A>G | CA384122522 | GYS2 | c.1472T>C (p.Met491Thr) c.*1474T>C (n.*1474T>C) c.1253T>C (p.Met418Thr) c.1241T>C (p.Met414Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546421A>T | CA384122526 | GYS2 | c.1472T>A (p.Met491Lys) c.*1474T>A (n.*1474T>A) c.1253T>A (p.Met418Lys) c.1241T>A (p.Met414Lys) | |
| 12 | g.21546422T>A | CA384122532 | GYS2 | c.1471A>T (p.Met491Leu) c.*1473A>T (n.*1473A>T) c.1252A>T (p.Met418Leu) c.1240A>T (p.Met414Leu) | |
| 12 | g.21546422T>C | CA384122536 | GYS2 | c.1471A>G (p.Met491Val) c.*1473A>G (n.*1473A>G) c.1252A>G (p.Met418Val) c.1240A>G (p.Met414Val) | gnomAD v4 |
| 12 | g.21546422T>G | CA384122538 | GYS2 | c.1471A>C (p.Met491Leu) c.*1473A>C (n.*1473A>C) c.1252A>C (p.Met418Leu) c.1240A>C (p.Met414Leu) | gnomAD v4 |
| 12 | g.21546423G>A | CA233583621 | GYS2 | c.1470C>T (p.Pro490=) c.*1472C>T (n.*1472C>T) c.1251C>T (p.Pro417=) c.1239C>T (p.Pro413=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21546423G>C | CA6479811 | GYS2 | c.1470C>G (p.Pro490=) c.*1472C>G (n.*1472C>G) c.1251C>G (p.Pro417=) c.1239C>G (p.Pro413=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546423G= | CA2021166999 | GYS2 | c.1470C= (p.Pro490=) c.*1472C= (n.*1472C=) c.1251C= (p.Pro417=) c.1239C= (p.Pro413=) | |
| 12 | g.21546423G>T | CA478868729 | GYS2 | c.1470C>A (p.Pro490=) c.*1472C>A (n.*1472C>A) c.1251C>A (p.Pro417=) c.1239C>A (p.Pro413=) | gnomAD v4 |
| 12 | g.21546424G>A | CA384122550 | GYS2 | c.1469C>T (p.Pro490Leu) c.*1471C>T (n.*1471C>T) c.1250C>T (p.Pro417Leu) c.1238C>T (p.Pro413Leu) | |
| 12 | g.21546424G>C | CA384122553 | GYS2 | c.1469C>G (p.Pro490Arg) c.*1471C>G (n.*1471C>G) c.1250C>G (p.Pro417Arg) c.1238C>G (p.Pro413Arg) | |
| 12 | g.21546424G>T | CA384122547 | GYS2 | c.1469C>A (p.Pro490His) c.*1471C>A (n.*1471C>A) c.1250C>A (p.Pro417His) c.1238C>A (p.Pro413His) | gnomAD v4 |
| 12 | g.21546427_21546440del | CA2617922627 | GYS2 | c.1456_1469del (p.Ser486HisfsTer4) c.*1458_*1471del (n.*1458_*1471del) c.1237_1250del (p.Ser413HisfsTer4) c.1225_1238del (p.Ser409HisfsTer4) | gnomAD v4 |
| 12 | g.21546425G>A | CA233583628 | GYS2 | c.1468C>T (p.Pro490Ser) c.*1470C>T (n.*1470C>T) c.1249C>T (p.Pro417Ser) c.1237C>T (p.Pro413Ser) | dbSNP gnomAD v4 |
| 12 | g.21546425G>C | CA384122557 | GYS2 | c.1468C>G (p.Pro490Ala) c.*1470C>G (n.*1470C>G) c.1249C>G (p.Pro417Ala) c.1237C>G (p.Pro413Ala) | gnomAD v4 |
| 12 | g.21546425G= | CA2021167005 | GYS2 | c.1468C= (p.Pro490=) c.*1470C= (n.*1470C=) c.1249C= (p.Pro417=) c.1237C= (p.Pro413=) | |
| 12 | g.21546425G>T | CA6479812 | GYS2 | c.1468C>A (p.Pro490Thr) c.*1470C>A (n.*1470C>A) c.1249C>A (p.Pro417Thr) c.1237C>A (p.Pro413Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546426T>A | CA478868730 | GYS2 | c.1467A>T (p.Leu489=) c.*1469A>T (n.*1469A>T) c.1248A>T (p.Leu416=) c.1236A>T (p.Leu412=) | |
| 12 | g.21546426T>C | CA478868731 | GYS2 | c.1467A>G (p.Leu489=) c.*1469A>G (n.*1469A>G) c.1248A>G (p.Leu416=) c.1236A>G (p.Leu412=) | |
| 12 | g.21546426T>G | CA478868732 | GYS2 | c.1467A>C (p.Leu489=) c.*1469A>C (n.*1469A>C) c.1248A>C (p.Leu416=) c.1236A>C (p.Leu412=) | |
| 12 | g.21546427A>C | CA384122562 | GYS2 | c.1466T>G (p.Leu489Arg) c.*1468T>G (n.*1468T>G) c.1247T>G (p.Leu416Arg) c.1235T>G (p.Leu412Arg) | |
| 12 | g.21546427A>G | CA384122564 | GYS2 | c.1466T>C (p.Leu489Pro) c.*1468T>C (n.*1468T>C) c.1247T>C (p.Leu416Pro) c.1235T>C (p.Leu412Pro) | |
| 12 | g.21546427A>T | CA384122569 | GYS2 | c.1466T>A (p.Leu489Gln) c.*1468T>A (n.*1468T>A) c.1247T>A (p.Leu416Gln) c.1235T>A (p.Leu412Gln) | |
| 12 | g.21546428G>A | CA233583633 | GYS2 | c.1465C>T (p.Leu489=) c.*1467C>T (n.*1467C>T) c.1246C>T (p.Leu416=) c.1234C>T (p.Leu412=) | dbSNP |
| 12 | g.21546428G>C | CA384122572 | GYS2 | c.1465C>G (p.Leu489Val) c.*1467C>G (n.*1467C>G) c.1246C>G (p.Leu416Val) c.1234C>G (p.Leu412Val) | |
| 12 | g.21546428G= | CA2021167008 | GYS2 | c.1465C= (p.Leu489=) c.*1467C= (n.*1467C=) c.1246C= (p.Leu416=) c.1234C= (p.Leu412=) | |
| 12 | g.21546428G>T | CA384122575 | GYS2 | c.1465C>A (p.Leu489Ile) c.*1467C>A (n.*1467C>A) c.1246C>A (p.Leu416Ile) c.1234C>A (p.Leu412Ile) | gnomAD v4 |
| 12 | g.21546429T>A | CA384122579 | GYS2 | c.1464A>T (p.Leu488Phe) c.*1466A>T (n.*1466A>T) c.1245A>T (p.Leu415Phe) c.1233A>T (p.Leu411Phe) | |
| 12 | g.21546429T>C | CA291145 | GYS2 | c.1464A>G (p.Leu488=) c.*1466A>G (n.*1466A>G) c.1245A>G (p.Leu415=) c.1233A>G (p.Leu411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546429T>G | CA384122583 | GYS2 | c.1464A>C (p.Leu488Phe) c.*1466A>C (n.*1466A>C) c.1245A>C (p.Leu415Phe) c.1233A>C (p.Leu411Phe) | |
| 12 | g.21546429T= | CA2021167012 | GYS2 | c.1464A= (p.Leu488=) c.*1466A= (n.*1466A=) c.1245A= (p.Leu415=) c.1233A= (p.Leu411=) | |
| 12 | g.21546430A>C | CA384122586 | GYS2 | c.1463T>G (p.Leu488Ter) c.*1465T>G (n.*1465T>G) c.1244T>G (p.Leu415Ter) c.1232T>G (p.Leu411Ter) | |
| 12 | g.21546430A>G | CA384122589 | GYS2 | c.1463T>C (p.Leu488Ser) c.*1465T>C (n.*1465T>C) c.1244T>C (p.Leu415Ser) c.1232T>C (p.Leu411Ser) | |
| 12 | g.21546430A>T | CA384122596 | GYS2 | c.1463T>A (p.Leu488Ter) c.*1465T>A (n.*1465T>A) c.1244T>A (p.Leu415Ter) c.1232T>A (p.Leu411Ter) | |
| 12 | g.21546431dup | CA2617922641 | GYS2 | c.1463dup (p.Leu488PhefsTer7) c.*1465dup (n.*1465dup) c.1244dup (p.Leu415PhefsTer7) c.1232dup (p.Leu411PhefsTer7) | gnomAD v4 |
| 12 | g.21546431A>C | CA384122597 | GYS2 | c.1462T>G (p.Leu488Val) c.*1464T>G (n.*1464T>G) c.1243T>G (p.Leu415Val) c.1231T>G (p.Leu411Val) | |
| 12 | g.21546431A>G | CA478868733 | GYS2 | c.1462T>C (p.Leu488=) c.*1464T>C (n.*1464T>C) c.1243T>C (p.Leu415=) c.1231T>C (p.Leu411=) | |
| 12 | g.21546431A>T | CA384122599 | GYS2 | c.1462T>A (p.Leu488Ile) c.*1464T>A (n.*1464T>A) c.1243T>A (p.Leu415Ile) c.1231T>A (p.Leu411Ile) | |
| 12 | g.21546432G>A | CA478868734 | GYS2 | c.1461C>T (p.Pro487=) c.*1463C>T (n.*1463C>T) c.1242C>T (p.Pro414=) c.1230C>T (p.Pro410=) | gnomAD v4 |
| 12 | g.21546432G>C | CA478868735 | GYS2 | c.1461C>G (p.Pro487=) c.*1463C>G (n.*1463C>G) c.1242C>G (p.Pro414=) c.1230C>G (p.Pro410=) | |
| 12 | g.21546432G>T | CA478868736 | GYS2 | c.1461C>A (p.Pro487=) c.*1463C>A (n.*1463C>A) c.1242C>A (p.Pro414=) c.1230C>A (p.Pro410=) | |
| 12 | g.21546434dup | CA2617922644 | GYS2 | c.1461dup (p.Leu489ThrfsTer6) c.*1463dup (n.*1463dup) c.1242dup (p.Leu416ThrfsTer6) c.1230dup (p.Leu412ThrfsTer6) | gnomAD v4 |
| 12 | g.21546433G>A | CA384122602 | GYS2 | c.1460C>T (p.Pro487Leu) c.*1462C>T (n.*1462C>T) c.1241C>T (p.Pro414Leu) c.1229C>T (p.Pro410Leu) | gnomAD v4 |
| 12 | g.21546433G>C | CA384122604 | GYS2 | c.1460C>G (p.Pro487Arg) c.*1462C>G (n.*1462C>G) c.1241C>G (p.Pro414Arg) c.1229C>G (p.Pro410Arg) | |
| 12 | g.21546433G>T | CA384122608 | GYS2 | c.1460C>A (p.Pro487His) c.*1462C>A (n.*1462C>A) c.1241C>A (p.Pro414His) c.1229C>A (p.Pro410His) | gnomAD v4 |
| 12 | g.21546434G>A | CA384122610 | GYS2 | c.1459C>T (p.Pro487Ser) c.*1461C>T (n.*1461C>T) c.1240C>T (p.Pro414Ser) c.1228C>T (p.Pro410Ser) | gnomAD v4 COSMIC |
| 12 | g.21546434G>C | CA384122613 | GYS2 | c.1459C>G (p.Pro487Ala) c.*1461C>G (n.*1461C>G) c.1240C>G (p.Pro414Ala) c.1228C>G (p.Pro410Ala) | gnomAD v4 COSMIC |
| 12 | g.21546434G>T | CA384122616 | GYS2 | c.1459C>A (p.Pro487Thr) c.*1461C>A (n.*1461C>A) c.1240C>A (p.Pro414Thr) c.1228C>A (p.Pro410Thr) | gnomAD v4 |
| 12 | g.21546435A= | CA2021167017 | GYS2 | c.1458T= (p.Ser486=) c.*1460T= (n.*1460T=) c.1239T= (p.Ser413=) c.1227T= (p.Ser409=) | |
| 12 | g.21546435A>C | CA6479813 | GYS2 | c.1458T>G (p.Ser486Arg) c.*1460T>G (n.*1460T>G) c.1239T>G (p.Ser413Arg) c.1227T>G (p.Ser409Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546435A>G | CA478868737 | GYS2 | c.1458T>C (p.Ser486=) c.*1460T>C (n.*1460T>C) c.1239T>C (p.Ser413=) c.1227T>C (p.Ser409=) | |
| 12 | g.21546435A>T | CA384122621 | GYS2 | c.1458T>A (p.Ser486Arg) c.*1460T>A (n.*1460T>A) c.1239T>A (p.Ser413Arg) c.1227T>A (p.Ser409Arg) | |
| 12 | g.21546436del | CA2617922666 | GYS2 | c.1457del (p.Ser486IlefsTer?) c.*1459del (n.*1459del) c.1238del (p.Ser413IlefsTer?) c.1226del (p.Ser409IlefsTer?) | gnomAD v4 |
| 12 | g.21546436C>A | CA384122624 | GYS2 | c.1457G>T (p.Ser486Ile) c.*1459G>T (n.*1459G>T) c.1238G>T (p.Ser413Ile) c.1226G>T (p.Ser409Ile) | |
| 12 | g.21546436C>G | CA384122627 | GYS2 | c.1457G>C (p.Ser486Thr) c.*1459G>C (n.*1459G>C) c.1238G>C (p.Ser413Thr) c.1226G>C (p.Ser409Thr) | gnomAD v4 |
| 12 | g.21546436C>T | CA384122630 | GYS2 | c.1457G>A (p.Ser486Asn) c.*1459G>A (n.*1459G>A) c.1238G>A (p.Ser413Asn) c.1226G>A (p.Ser409Asn) | gnomAD v4 |
| 12 | g.21546437T>A | CA384122639 | GYS2 | c.1456A>T (p.Ser486Cys) c.*1458A>T (n.*1458A>T) c.1237A>T (p.Ser413Cys) c.1225A>T (p.Ser409Cys) | |
| 12 | g.21546437T>C | CA384122636 | GYS2 | c.1456A>G (p.Ser486Gly) c.*1458A>G (n.*1458A>G) c.1237A>G (p.Ser413Gly) c.1225A>G (p.Ser409Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546437T>G | CA384122633 | GYS2 | c.1456A>C (p.Ser486Arg) c.*1458A>C (n.*1458A>C) c.1237A>C (p.Ser413Arg) c.1225A>C (p.Ser409Arg) | |
| 12 | g.21546437T= | CA2021167019 | GYS2 | c.1456A= (p.Ser486=) c.*1458A= (n.*1458A=) c.1237A= (p.Ser413=) c.1225A= (p.Ser409=) | |
| 12 | g.21546438G>A | CA6479814 | GYS2 | c.1455C>T (p.Thr485=) c.*1457C>T (n.*1457C>T) c.1236C>T (p.Thr412=) c.1224C>T (p.Thr408=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546438G>C | CA478868738 | GYS2 | c.1455C>G (p.Thr485=) c.*1457C>G (n.*1457C>G) c.1236C>G (p.Thr412=) c.1224C>G (p.Thr408=) | |
| 12 | g.21546438G= | CA2021167022 | GYS2 | c.1455C= (p.Thr485=) c.*1457C= (n.*1457C=) c.1236C= (p.Thr412=) c.1224C= (p.Thr408=) | |
| 12 | g.21546438G>T | CA478868739 | GYS2 | c.1455C>A (p.Thr485=) c.*1457C>A (n.*1457C>A) c.1236C>A (p.Thr412=) c.1224C>A (p.Thr408=) | gnomAD v4 |
| 12 | g.21546439G>A | CA6479815 | GYS2 | c.1454C>T (p.Thr485Ile) c.*1456C>T (n.*1456C>T) c.1235C>T (p.Thr412Ile) c.1223C>T (p.Thr408Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546439G>C | CA384122640 | GYS2 | c.1454C>G (p.Thr485Ser) c.*1456C>G (n.*1456C>G) c.1235C>G (p.Thr412Ser) c.1223C>G (p.Thr408Ser) | dbSNP |
| 12 | g.21546439G= | CA2021167025 | GYS2 | c.1454C= (p.Thr485=) c.*1456C= (n.*1456C=) c.1235C= (p.Thr412=) c.1223C= (p.Thr408=) | |
| 12 | g.21546439G>T | CA384122642 | GYS2 | c.1454C>A (p.Thr485Asn) c.*1456C>A (n.*1456C>A) c.1235C>A (p.Thr412Asn) c.1223C>A (p.Thr408Asn) | |
| 12 | g.21546440T>A | CA384122645 | GYS2 | c.1453A>T (p.Thr485Ser) c.*1455A>T (n.*1455A>T) c.1234A>T (p.Thr412Ser) c.1222A>T (p.Thr408Ser) | |
| 12 | g.21546440T>C | CA384122648 | GYS2 | c.1453A>G (p.Thr485Ala) c.*1455A>G (n.*1455A>G) c.1234A>G (p.Thr412Ala) c.1222A>G (p.Thr408Ala) | |
| 12 | g.21546440T>G | CA384122650 | GYS2 | c.1453A>C (p.Thr485Pro) c.*1455A>C (n.*1455A>C) c.1234A>C (p.Thr412Pro) c.1222A>C (p.Thr408Pro) | |
| 12 | g.21546441G>A | CA6479816 | GYS2 | c.1452C>T (p.Ser484=) c.*1454C>T (n.*1454C>T) c.1233C>T (p.Ser411=) c.1221C>T (p.Ser407=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546441G>C | CA478868740 | GYS2 | c.1452C>G (p.Ser484=) c.*1454C>G (n.*1454C>G) c.1233C>G (p.Ser411=) c.1221C>G (p.Ser407=) | |
| 12 | g.21546441G= | CA2021167026 | GYS2 | c.1452C= (p.Ser484=) c.*1454C= (n.*1454C=) c.1233C= (p.Ser411=) c.1221C= (p.Ser407=) | |
| 12 | g.21546441G>T | CA478868741 | GYS2 | c.1452C>A (p.Ser484=) c.*1454C>A (n.*1454C>A) c.1233C>A (p.Ser411=) c.1221C>A (p.Ser407=) | gnomAD v4 |
| 12 | g.21546442G>A | CA384122655 | GYS2 | c.1451C>T (p.Ser484Phe) c.*1453C>T (n.*1453C>T) c.1232C>T (p.Ser411Phe) c.1220C>T (p.Ser407Phe) | |
| 12 | g.21546442G>C | CA384122659 | GYS2 | c.1451C>G (p.Ser484Cys) c.*1453C>G (n.*1453C>G) c.1232C>G (p.Ser411Cys) c.1220C>G (p.Ser407Cys) | |
| 12 | g.21546442G>T | CA384122657 | GYS2 | c.1451C>A (p.Ser484Tyr) c.*1453C>A (n.*1453C>A) c.1232C>A (p.Ser411Tyr) c.1220C>A (p.Ser407Tyr) | gnomAD v4 |
| 12 | g.21546443A>C | CA384122660 | GYS2 | c.1450T>G (p.Ser484Ala) c.*1452T>G (n.*1452T>G) c.1231T>G (p.Ser411Ala) c.1219T>G (p.Ser407Ala) | |
| 12 | g.21546443A>G | CA384122661 | GYS2 | c.1450T>C (p.Ser484Pro) c.*1452T>C (n.*1452T>C) c.1231T>C (p.Ser411Pro) c.1219T>C (p.Ser407Pro) | gnomAD v4 |
| 12 | g.21546443A>T | CA384122662 | GYS2 | c.1450T>A (p.Ser484Thr) c.*1452T>A (n.*1452T>A) c.1231T>A (p.Ser411Thr) c.1219T>A (p.Ser407Thr) | |
| 12 | g.21546444G>A | CA478868743 | GYS2 | c.1449C>T (p.Ser483=) c.*1451C>T (n.*1451C>T) c.1230C>T (p.Ser410=) c.1218C>T (p.Ser406=) | |
| 12 | g.21546444G>C | CA6479817 | GYS2 | c.1449C>G (p.Ser483=) c.*1451C>G (n.*1451C>G) c.1230C>G (p.Ser410=) c.1218C>G (p.Ser406=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546444G= | CA2021167029 | GYS2 | c.1449C= (p.Ser483=) c.*1451C= (n.*1451C=) c.1230C= (p.Ser410=) c.1218C= (p.Ser406=) | |
| 12 | g.21546444G>T | CA478868742 | GYS2 | c.1449C>A (p.Ser483=) c.*1451C>A (n.*1451C>A) c.1230C>A (p.Ser410=) c.1218C>A (p.Ser406=) | gnomAD v4 |
| 12 | g.21546445G>A | CA384122673 | GYS2 | c.1448C>T (p.Ser483Phe) c.*1450C>T (n.*1450C>T) c.1229C>T (p.Ser410Phe) c.1217C>T (p.Ser406Phe) | COSMIC |
| 12 | g.21546445G>C | CA384122664 | GYS2 | c.1448C>G (p.Ser483Cys) c.*1450C>G (n.*1450C>G) c.1229C>G (p.Ser410Cys) c.1217C>G (p.Ser406Cys) | |
| 12 | g.21546445G>T | CA384122671 | GYS2 | c.1448C>A (p.Ser483Tyr) c.*1450C>A (n.*1450C>A) c.1229C>A (p.Ser410Tyr) c.1217C>A (p.Ser406Tyr) | gnomAD v4 |
| 12 | g.21546446A= | CA2021167031 | GYS2 | c.1447T= (p.Ser483=) c.*1449T= (n.*1449T=) c.1228T= (p.Ser410=) c.1216T= (p.Ser406=) | |
| 12 | g.21546446A>C | CA384122678 | GYS2 | c.1447T>G (p.Ser483Ala) c.*1449T>G (n.*1449T>G) c.1228T>G (p.Ser410Ala) c.1216T>G (p.Ser406Ala) | |
| 12 | g.21546446A>G | CA126174 | GYS2 | c.1447T>C (p.Ser483Pro) c.*1449T>C (n.*1449T>C) c.1228T>C (p.Ser410Pro) c.1216T>C (p.Ser406Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21546446A>T | CA384122684 | GYS2 | c.1447T>A (p.Ser483Thr) c.*1449T>A (n.*1449T>A) c.1228T>A (p.Ser410Thr) c.1216T>A (p.Ser406Thr) | |
| 12 | g.21546447T>A | CA478868744 | GYS2 | c.1446A>T (p.Leu482=) c.*1448A>T (n.*1448A>T) c.1227A>T (p.Leu409=) c.1215A>T (p.Leu405=) | |
| 12 | g.21546447T>C | CA478868745 | GYS2 | c.1446A>G (p.Leu482=) c.*1448A>G (n.*1448A>G) c.1227A>G (p.Leu409=) c.1215A>G (p.Leu405=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546447T>G | CA478868746 | GYS2 | c.1446A>C (p.Leu482=) c.*1448A>C (n.*1448A>C) c.1227A>C (p.Leu409=) c.1215A>C (p.Leu405=) | |
| 12 | g.21546447T= | CA2021167038 | GYS2 | c.1446A= (p.Leu482=) c.*1448A= (n.*1448A=) c.1227A= (p.Leu409=) c.1215A= (p.Leu405=) | |
| 12 | g.21546448A>C | CA384122686 | GYS2 | c.1445T>G (p.Leu482Arg) c.*1447T>G (n.*1447T>G) c.1226T>G (p.Leu409Arg) c.1214T>G (p.Leu405Arg) | |
| 12 | g.21546448A>G | CA384122689 | GYS2 | c.1445T>C (p.Leu482Pro) c.*1447T>C (n.*1447T>C) c.1226T>C (p.Leu409Pro) c.1214T>C (p.Leu405Pro) | gnomAD v4 |
| 12 | g.21546448A>T | CA384122692 | GYS2 | c.1445T>A (p.Leu482Gln) c.*1447T>A (n.*1447T>A) c.1226T>A (p.Leu409Gln) c.1214T>A (p.Leu405Gln) | |
| 12 | g.21546449G>A | CA478868747 | GYS2 | c.1444C>T (p.Leu482=) c.*1446C>T (n.*1446C>T) c.1225C>T (p.Leu409=) c.1213C>T (p.Leu405=) | |
| 12 | g.21546449G>C | CA384122694 | GYS2 | c.1444C>G (p.Leu482Val) c.*1446C>G (n.*1446C>G) c.1225C>G (p.Leu409Val) c.1213C>G (p.Leu405Val) | |
| 12 | g.21546449G>T | CA384122697 | GYS2 | c.1444C>A (p.Leu482Ile) c.*1446C>A (n.*1446C>A) c.1225C>A (p.Leu409Ile) c.1213C>A (p.Leu405Ile) | gnomAD v4 |
| 12 | g.21546450A>C | CA384122700 | GYS2 | c.1443T>G (p.Phe481Leu) c.*1445T>G (n.*1445T>G) c.1224T>G (p.Phe408Leu) c.1212T>G (p.Phe404Leu) | |
| 12 | g.21546450A>G | CA478868748 | GYS2 | c.1443T>C (p.Phe481=) c.*1445T>C (n.*1445T>C) c.1224T>C (p.Phe408=) c.1212T>C (p.Phe404=) | |
| 12 | g.21546450A>T | CA384122702 | GYS2 | c.1443T>A (p.Phe481Leu) c.*1445T>A (n.*1445T>A) c.1224T>A (p.Phe408Leu) c.1212T>A (p.Phe404Leu) | |
| 12 | g.21546451A>C | CA384122706 | GYS2 | c.1442T>G (p.Phe481Cys) c.*1444T>G (n.*1444T>G) c.1223T>G (p.Phe408Cys) c.1211T>G (p.Phe404Cys) | |
| 12 | g.21546451A>G | CA384122708 | GYS2 | c.1442T>C (p.Phe481Ser) c.*1444T>C (n.*1444T>C) c.1223T>C (p.Phe408Ser) c.1211T>C (p.Phe404Ser) | |
| 12 | g.21546451A>T | CA384122710 | GYS2 | c.1442T>A (p.Phe481Tyr) c.*1444T>A (n.*1444T>A) c.1223T>A (p.Phe408Tyr) c.1211T>A (p.Phe404Tyr) | |
| 12 | g.21546452A>C | CA384122714 | GYS2 | c.1441T>G (p.Phe481Val) c.*1443T>G (n.*1443T>G) c.1222T>G (p.Phe408Val) c.1210T>G (p.Phe404Val) | |
| 12 | g.21546452A>G | CA384122719 | GYS2 | c.1441T>C (p.Phe481Leu) c.*1443T>C (n.*1443T>C) c.1222T>C (p.Phe408Leu) c.1210T>C (p.Phe404Leu) | gnomAD v4 |
| 12 | g.21546452A>T | CA384122716 | GYS2 | c.1441T>A (p.Phe481Ile) c.*1443T>A (n.*1443T>A) c.1222T>A (p.Phe408Ile) c.1210T>A (p.Phe404Ile) | |
| 12 | g.21546453C>A | CA384122722 | GYS2 | c.1440G>T (p.Glu480Asp) c.*1442G>T (n.*1442G>T) c.1221G>T (p.Glu407Asp) c.1209G>T (p.Glu403Asp) | |
| 12 | g.21546453C>G | CA384122725 | GYS2 | c.1440G>C (p.Glu480Asp) c.*1442G>C (n.*1442G>C) c.1221G>C (p.Glu407Asp) c.1209G>C (p.Glu403Asp) | gnomAD v4 |
| 12 | g.21546453C>T | CA478868749 | GYS2 | c.1440G>A (p.Glu480=) c.*1442G>A (n.*1442G>A) c.1221G>A (p.Glu407=) c.1209G>A (p.Glu403=) | |
| 12 | g.21546454T>A | CA384122728 | GYS2 | c.1439A>T (p.Glu480Val) c.*1441A>T (n.*1441A>T) c.1220A>T (p.Glu407Val) c.1208A>T (p.Glu403Val) | |
| 12 | g.21546454T>C | CA384122731 | GYS2 | c.1439A>G (p.Glu480Gly) c.*1441A>G (n.*1441A>G) c.1220A>G (p.Glu407Gly) c.1208A>G (p.Glu403Gly) | |
| 12 | g.21546454T>G | CA384122734 | GYS2 | c.1439A>C (p.Glu480Ala) c.*1441A>C (n.*1441A>C) c.1220A>C (p.Glu407Ala) c.1208A>C (p.Glu403Ala) | |
| 12 | g.21546455C>A | CA384122737 | GYS2 | c.1438G>T (p.Glu480Ter) c.*1440G>T (n.*1440G>T) c.1219G>T (p.Glu407Ter) c.1207G>T (p.Glu403Ter) | gnomAD v3 gnomAD v4 |
| 12 | g.21546455C= | CA2021167041 | GYS2 | c.1438G= (p.Glu480=) c.*1440G= (n.*1440G=) c.1219G= (p.Glu407=) c.1207G= (p.Glu403=) | |
| 12 | g.21546455C>G | CA384122740 | GYS2 | c.1438G>C (p.Glu480Gln) c.*1440G>C (n.*1440G>C) c.1219G>C (p.Glu407Gln) c.1207G>C (p.Glu403Gln) | |
| 12 | g.21546455C>T | CA384122743 | GYS2 | c.1438G>A (p.Glu480Lys) c.*1440G>A (n.*1440G>A) c.1219G>A (p.Glu407Lys) c.1207G>A (p.Glu403Lys) | dbSNP |
| 12 | g.21546456T>A | CA478868750 | GYS2 | c.1437A>T (p.Pro479=) c.*1439A>T (n.*1439A>T) c.1218A>T (p.Pro406=) c.1206A>T (p.Pro402=) | |
| 12 | g.21546456T>C | CA6479818 | GYS2 | c.1437A>G (p.Pro479=) c.*1439A>G (n.*1439A>G) c.1218A>G (p.Pro406=) c.1206A>G (p.Pro402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546456T>G | CA478868751 | GYS2 | c.1437A>C (p.Pro479=) c.*1439A>C (n.*1439A>C) c.1218A>C (p.Pro406=) c.1206A>C (p.Pro402=) | |
| 12 | g.21546456T= | CA2021167044 | GYS2 | c.1437A= (p.Pro479=) c.*1439A= (n.*1439A=) c.1218A= (p.Pro406=) c.1206A= (p.Pro402=) | |
| 12 | g.21546457G>A | CA384122749 | GYS2 | c.1436C>T (p.Pro479Leu) c.*1438C>T (n.*1438C>T) c.1217C>T (p.Pro406Leu) c.1205C>T (p.Pro402Leu) | gnomAD v4 |
| 12 | g.21546457G>C | CA384122752 | GYS2 | c.1436C>G (p.Pro479Arg) c.*1438C>G (n.*1438C>G) c.1217C>G (p.Pro406Arg) c.1205C>G (p.Pro402Arg) | |
| 12 | g.21546457G= | CA2021167049 | GYS2 | c.1436C= (p.Pro479=) c.*1438C= (n.*1438C=) c.1217C= (p.Pro406=) c.1205C= (p.Pro402=) | |
| 12 | g.21546457G>T | CA126170 | GYS2 | c.1436C>A (p.Pro479Gln) c.*1438C>A (n.*1438C>A) c.1217C>A (p.Pro406Gln) c.1205C>A (p.Pro402Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546458G>A | CA384122765 | GYS2 | c.1435C>T (p.Pro479Ser) c.*1437C>T (n.*1437C>T) c.1216C>T (p.Pro406Ser) c.1204C>T (p.Pro402Ser) | dbSNP gnomAD v4 |
| 12 | g.21546458G>C | CA384122763 | GYS2 | c.1435C>G (p.Pro479Ala) c.*1437C>G (n.*1437C>G) c.1216C>G (p.Pro406Ala) c.1204C>G (p.Pro402Ala) | |
| 12 | g.21546458G= | CA2021167054 | GYS2 | c.1435C= (p.Pro479=) c.*1437C= (n.*1437C=) c.1216C= (p.Pro406=) c.1204C= (p.Pro402=) | |
| 12 | g.21546458G>T | CA384122758 | GYS2 | c.1435C>A (p.Pro479Thr) c.*1437C>A (n.*1437C>A) c.1216C>A (p.Pro406Thr) c.1204C>A (p.Pro402Thr) | gnomAD v4 |
| 12 | g.21546459G>A | CA478868752 | GYS2 | c.1434C>T (p.His478=) c.*1436C>T (n.*1436C>T) c.1215C>T (p.His405=) c.1203C>T (p.His401=) | |
| 12 | g.21546459G>C | CA384122767 | GYS2 | c.1434C>G (p.His478Gln) c.*1436C>G (n.*1436C>G) c.1215C>G (p.His405Gln) c.1203C>G (p.His401Gln) | |
| 12 | g.21546459G>T | CA384122770 | GYS2 | c.1434C>A (p.His478Gln) c.*1436C>A (n.*1436C>A) c.1215C>A (p.His405Gln) c.1203C>A (p.His401Gln) | gnomAD v4 |
| 12 | g.21546460T>A | CA384122773 | GYS2 | c.1433A>T (p.His478Leu) c.*1435A>T (n.*1435A>T) c.1214A>T (p.His405Leu) c.1202A>T (p.His401Leu) | |
| 12 | g.21546460T>C | CA384122776 | GYS2 | c.1433A>G (p.His478Arg) c.*1435A>G (n.*1435A>G) c.1214A>G (p.His405Arg) c.1202A>G (p.His401Arg) | |
| 12 | g.21546460T>G | CA384122778 | GYS2 | c.1433A>C (p.His478Pro) c.*1435A>C (n.*1435A>C) c.1214A>C (p.His405Pro) c.1202A>C (p.His401Pro) | |
| 12 | g.21546461G>A | CA384122785 | GYS2 | c.1432C>T (p.His478Tyr) c.*1434C>T (n.*1434C>T) c.1213C>T (p.His405Tyr) c.1201C>T (p.His401Tyr) | gnomAD v4 |
| 12 | g.21546461G>C | CA384122788 | GYS2 | c.1432C>G (p.His478Asp) c.*1434C>G (n.*1434C>G) c.1213C>G (p.His405Asp) c.1201C>G (p.His401Asp) | |
| 12 | g.21546461G= | CA2021167056 | GYS2 | c.1432C= (p.His478=) c.*1434C= (n.*1434C=) c.1213C= (p.His405=) c.1201C= (p.His401=) | |
| 12 | g.21546461G>T | CA6479819 | GYS2 | c.1432C>A (p.His478Asn) c.*1434C>A (n.*1434C>A) c.1213C>A (p.His405Asn) c.1201C>A (p.His401Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546462C>A | CA384122792 | GYS2 | c.1431G>T (p.Leu477Phe) c.*1433G>T (n.*1433G>T) c.1212G>T (p.Leu404Phe) c.1200G>T (p.Leu400Phe) | gnomAD v4 |
| 12 | g.21546462C>G | CA384122794 | GYS2 | c.1431G>C (p.Leu477Phe) c.*1433G>C (n.*1433G>C) c.1212G>C (p.Leu404Phe) c.1200G>C (p.Leu400Phe) | |
| 12 | g.21546462C>T | CA478868753 | GYS2 | c.1431G>A (p.Leu477=) c.*1433G>A (n.*1433G>A) c.1212G>A (p.Leu404=) c.1200G>A (p.Leu400=) | gnomAD v4 |
| 12 | g.21546463A= | CA2021167060 | GYS2 | c.1430T= (p.Leu477=) c.*1432T= (n.*1432T=) c.1211T= (p.Leu404=) c.1199T= (p.Leu400=) | |
| 12 | g.21546463A>C | CA384122799 | GYS2 | c.1430T>G (p.Leu477Trp) c.*1432T>G (n.*1432T>G) c.1211T>G (p.Leu404Trp) c.1199T>G (p.Leu400Trp) | |
| 12 | g.21546463A>G | CA384122801 | GYS2 | c.1430T>C (p.Leu477Ser) c.*1432T>C (n.*1432T>C) c.1211T>C (p.Leu404Ser) c.1199T>C (p.Leu400Ser) | dbSNP |
| 12 | g.21546463A>T | CA384122804 | GYS2 | c.1430T>A (p.Leu477Ter) c.*1432T>A (n.*1432T>A) c.1211T>A (p.Leu404Ter) c.1199T>A (p.Leu400Ter) | |
| 12 | g.21546466del | CA2617922738 | GYS2 | c.1430del (p.Leu477CysfsTer?) c.*1432del (n.*1432del) c.1211del (p.Leu404CysfsTer?) c.1199del (p.Leu400CysfsTer?) | gnomAD v4 |
| 12 | g.21546464A>C | CA384122810 | GYS2 | c.1429T>G (p.Leu477Val) c.*1431T>G (n.*1431T>G) c.1210T>G (p.Leu404Val) c.1198T>G (p.Leu400Val) | |
| 12 | g.21546464A>G | CA478868754 | GYS2 | c.1429T>C (p.Leu477=) c.*1431T>C (n.*1431T>C) c.1210T>C (p.Leu404=) c.1198T>C (p.Leu400=) | |
| 12 | g.21546464A>T | CA384122807 | GYS2 | c.1429T>A (p.Leu477Met) c.*1431T>A (n.*1431T>A) c.1210T>A (p.Leu404Met) c.1198T>A (p.Leu400Met) | |
| 12 | g.21546465A= | CA2021167063 | GYS2 | c.1428T= (p.Ile476=) c.*1430T= (n.*1430T=) c.1209T= (p.Ile403=) c.1197T= (p.Ile399=) | |
| 12 | g.21546465A>C | CA384122814 | GYS2 | c.1428T>G (p.Ile476Met) c.*1430T>G (n.*1430T>G) c.1209T>G (p.Ile403Met) c.1197T>G (p.Ile399Met) | |
| 12 | g.21546465A>G | CA478868755 | GYS2 | c.1428T>C (p.Ile476=) c.*1430T>C (n.*1430T>C) c.1209T>C (p.Ile403=) c.1197T>C (p.Ile399=) | gnomAD v4 |
| 12 | g.21546465A>T | CA478868756 | GYS2 | c.1428T>A (p.Ile476=) c.*1430T>A (n.*1430T>A) c.1209T>A (p.Ile403=) c.1197T>A (p.Ile399=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546466A= | CA2021167066 | GYS2 | c.1427T= (p.Ile476=) c.*1429T= (n.*1429T=) c.1208T= (p.Ile403=) c.1196T= (p.Ile399=) | |
| 12 | g.21546466A>C | CA384122822 | GYS2 | c.1427T>G (p.Ile476Ser) c.*1429T>G (n.*1429T>G) c.1208T>G (p.Ile403Ser) c.1196T>G (p.Ile399Ser) | |
| 12 | g.21546466A>G | CA384122817 | GYS2 | c.1427T>C (p.Ile476Thr) c.*1429T>C (n.*1429T>C) c.1208T>C (p.Ile403Thr) c.1196T>C (p.Ile399Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21546466A>T | CA324545 | GYS2 | c.1427T>A (p.Ile476Asn) c.*1429T>A (n.*1429T>A) c.1208T>A (p.Ile403Asn) c.1196T>A (p.Ile399Asn) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21546467T>A | CA384122826 | GYS2 | c.1426A>T (p.Ile476Phe) c.*1428A>T (n.*1428A>T) c.1207A>T (p.Ile403Phe) c.1195A>T (p.Ile399Phe) | gnomAD v3 gnomAD v4 |
| 12 | g.21546467T>C | CA384122836 | GYS2 | c.1426A>G (p.Ile476Val) c.*1428A>G (n.*1428A>G) c.1207A>G (p.Ile403Val) c.1195A>G (p.Ile399Val) | |
| 12 | g.21546467T>G | CA384122827 | GYS2 | c.1426A>C (p.Ile476Leu) c.*1428A>C (n.*1428A>C) c.1207A>C (p.Ile403Leu) c.1195A>C (p.Ile399Leu) | |
| 12 | g.21546468C>A | CA478868757 | GYS2 | c.1425G>T (p.Val475=) c.*1427G>T (n.*1427G>T) c.1206G>T (p.Val402=) c.1194G>T (p.Val398=) | gnomAD v3 gnomAD v4 |
| 12 | g.21546468C>G | CA478868758 | GYS2 | c.1425G>C (p.Val475=) c.*1427G>C (n.*1427G>C) c.1206G>C (p.Val402=) c.1194G>C (p.Val398=) | |
| 12 | g.21546468C>T | CA478868759 | GYS2 | c.1425G>A (p.Val475=) c.*1427G>A (n.*1427G>A) c.1206G>A (p.Val402=) c.1194G>A (p.Val398=) | COSMIC |