Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.21546469A>C | CA384122838 | GYS2 | c.1424T>G (p.Val475Gly) c.*1426T>G (n.*1426T>G) c.1205T>G (p.Val402Gly) c.1193T>G (p.Val398Gly) | |
12 | g.21546469A>G | CA384122845 | GYS2 | c.1424T>C (p.Val475Ala) c.*1426T>C (n.*1426T>C) c.1205T>C (p.Val402Ala) c.1193T>C (p.Val398Ala) | gnomAD v4 |
12 | g.21546469A>T | CA384122841 | GYS2 | c.1424T>A (p.Val475Glu) c.*1426T>A (n.*1426T>A) c.1205T>A (p.Val402Glu) c.1193T>A (p.Val398Glu) | |
12 | g.21546469_21546470delinsAC | CA2021167068 | GYS2 | c.1423_1424delinsGT (p.Val475=) c.*1425_*1426delinsGT (n.*1425_*1426delinsGT) c.1204_1205delinsGT (p.Val402=) c.1192_1193delinsGT (p.Val398=) | |
12 | g.21546470C>A | CA384122849 | GYS2 | c.1423G>T (p.Val475Leu) c.*1425G>T (n.*1425G>T) c.1204G>T (p.Val402Leu) c.1192G>T (p.Val398Leu) | gnomAD v3 gnomAD v4 |
12 | g.21546470C= | CA2021167071 | GYS2 | c.1423G= (p.Val475=) c.*1425G= (n.*1425G=) c.1204G= (p.Val402=) c.1192G= (p.Val398=) | |
12 | g.21546470C>G | CA384122852 | GYS2 | c.1423G>C (p.Val475Leu) c.*1425G>C (n.*1425G>C) c.1204G>C (p.Val402Leu) c.1192G>C (p.Val398Leu) |