| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21562893A>C | CA2575098461 | GYS2 | c.1062+25T>G (n.1062+25T>G) c.*1064+25T>G (n.*1064+25T>G) n.989+25T>G c.843+25T>G (n.843+25T>G) c.831+25T>G (n.831+25T>G) | gnomAD v4 |
| 12 | g.21562893A>G | CA2617923595 | GYS2 | c.1062+25T>C (n.1062+25T>C) c.*1064+25T>C (n.*1064+25T>C) n.989+25T>C c.843+25T>C (n.843+25T>C) c.831+25T>C (n.831+25T>C) | gnomAD v4 |
| 12 | g.21562894T>C | CA945500365 | GYS2 | c.1062+24A>G (n.1062+24A>G) c.*1064+24A>G (n.*1064+24A>G) n.989+24A>G c.843+24A>G (n.843+24A>G) c.831+24A>G (n.831+24A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21562894T= | CA2021178754 | GYS2 | c.1062+24A= (n.1062+24A=) c.*1064+24A= (n.*1064+24A=) n.989+24A= c.843+24A= (n.843+24A=) c.831+24A= (n.831+24A=) | |
| 12 | g.21562895A>G | CA2617923596 | GYS2 | c.1062+23T>C (n.1062+23T>C) c.*1064+23T>C (n.*1064+23T>C) n.989+23T>C c.843+23T>C (n.843+23T>C) c.831+23T>C (n.831+23T>C) | gnomAD v4 |
| 12 | g.21562897del | CA2617923597 | GYS2 | c.1062+22del (n.1062+22del) c.*1064+22del (n.*1064+22del) n.989+22del c.843+22del (n.843+22del) c.831+22del (n.831+22del) | gnomAD v4 |
| 12 | g.21562897C>A | CA2617923598 | GYS2 | c.1062+21G>T (n.1062+21G>T) c.*1064+21G>T (n.*1064+21G>T) n.989+21G>T c.843+21G>T (n.843+21G>T) c.831+21G>T (n.831+21G>T) | gnomAD v4 |
| 12 | g.21562897C= | CA2021178756 | GYS2 | c.1062+21G= (n.1062+21G=) c.*1064+21G= (n.*1064+21G=) n.989+21G= c.843+21G= (n.843+21G=) c.831+21G= (n.831+21G=) | |
| 12 | g.21562897C>G | CA603675464 | GYS2 | c.1062+21G>C (n.1062+21G>C) c.*1064+21G>C (n.*1064+21G>C) n.989+21G>C c.843+21G>C (n.843+21G>C) c.831+21G>C (n.831+21G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21562899T>C | CA2617923599 | GYS2 | c.1062+19A>G (n.1062+19A>G) c.*1064+19A>G (n.*1064+19A>G) n.989+19A>G c.843+19A>G (n.843+19A>G) c.831+19A>G (n.831+19A>G) | gnomAD v4 |
| 12 | g.21562900G>T | CA2617923600 | GYS2 | c.1062+18C>A (n.1062+18C>A) c.*1064+18C>A (n.*1064+18C>A) n.989+18C>A c.843+18C>A (n.843+18C>A) c.831+18C>A (n.831+18C>A) | gnomAD v4 |
| 12 | g.21562902C= | CA2021178758 | GYS2 | c.1062+16G= (n.1062+16G=) c.*1064+16G= (n.*1064+16G=) n.989+16G= c.843+16G= (n.843+16G=) c.831+16G= (n.831+16G=) | |
| 12 | g.21562902C>G | CA6480013 | GYS2 | c.1062+16G>C (n.1062+16G>C) c.*1064+16G>C (n.*1064+16G>C) n.989+16G>C c.843+16G>C (n.843+16G>C) c.831+16G>C (n.831+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21562905A= | CA2021178761 | GYS2 | c.1062+13T= (n.1062+13T=) c.*1064+13T= (n.*1064+13T=) n.989+13T= c.843+13T= (n.843+13T=) c.831+13T= (n.831+13T=) | |
| 12 | g.21562905A>G | CA6480014 | GYS2 | c.1062+13T>C (n.1062+13T>C) c.*1064+13T>C (n.*1064+13T>C) n.989+13T>C c.843+13T>C (n.843+13T>C) c.831+13T>C (n.831+13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562906G>C | CA2617923601 | GYS2 | c.1062+12C>G (n.1062+12C>G) c.*1064+12C>G (n.*1064+12C>G) n.989+12C>G c.843+12C>G (n.843+12C>G) c.831+12C>G (n.831+12C>G) | gnomAD v4 |
| 12 | g.21562908G>A | CA2575098462 | GYS2 | c.1062+10C>T (n.1062+10C>T) c.*1064+10C>T (n.*1064+10C>T) n.989+10C>T c.843+10C>T (n.843+10C>T) c.831+10C>T (n.831+10C>T) | gnomAD v4 |
| 12 | g.21562908G>C | CA2617923602 | GYS2 | c.1062+10C>G (n.1062+10C>G) c.*1064+10C>G (n.*1064+10C>G) n.989+10C>G c.843+10C>G (n.843+10C>G) c.831+10C>G (n.831+10C>G) | gnomAD v4 |
| 12 | g.21562908G= | CA2021178763 | GYS2 | c.1062+10C= (n.1062+10C=) c.*1064+10C= (n.*1064+10C=) n.989+10C= c.843+10C= (n.843+10C=) c.831+10C= (n.831+10C=) | |
| 12 | g.21562908G>T | CA2021178764 | GYS2 | c.1062+10C>A (n.1062+10C>A) c.*1064+10C>A (n.*1064+10C>A) n.989+10C>A c.843+10C>A (n.843+10C>A) c.831+10C>A (n.831+10C>A) | dbSNP |
| 12 | g.21562909C>T | CA2617923603 | GYS2 | c.1062+9G>A (n.1062+9G>A) c.*1064+9G>A (n.*1064+9G>A) n.989+9G>A c.843+9G>A (n.843+9G>A) c.831+9G>A (n.831+9G>A) | gnomAD v4 |
| 12 | g.21562910T>G | CA2617923604 | GYS2 | c.1062+8A>C (n.1062+8A>C) c.*1064+8A>C (n.*1064+8A>C) n.989+8A>C c.843+8A>C (n.843+8A>C) c.831+8A>C (n.831+8A>C) | gnomAD v4 |
| 12 | g.21562911T>C | CA2575098463 | GYS2 | c.1062+7A>G (n.1062+7A>G) c.*1064+7A>G (n.*1064+7A>G) n.989+7A>G c.843+7A>G (n.843+7A>G) c.831+7A>G (n.831+7A>G) | |
| 12 | g.21562913C= | CA2021178766 | GYS2 | c.1062+5G= (n.1062+5G=) c.*1064+5G= (n.*1064+5G=) n.989+5G= c.843+5G= (n.843+5G=) c.831+5G= (n.831+5G=) | |
| 12 | g.21562913_21562914insGTAA | CA603675471 | GYS2 | c.1062+4_1062+5insTTAC (n.1062+4_1062+5insTTAC) c.*1064+4_*1064+5insTTAC (n.*1064+4_*1064+5insTTAC) n.989+4_989+5insTTAC c.843+4_843+5insTTAC (n.843+4_843+5insTTAC) c.831+4_831+5insTTAC (n.831+4_831+5insTTAC) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21562914T>G | CA2021178771 | GYS2 | c.1062+4A>C (n.1062+4A>C) c.*1064+4A>C (n.*1064+4A>C) n.989+4A>C c.843+4A>C (n.843+4A>C) c.831+4A>C (n.831+4A>C) | dbSNP |
| 12 | g.21562914T= | CA2021178770 | GYS2 | c.1062+4A= (n.1062+4A=) c.*1064+4A= (n.*1064+4A=) n.989+4A= c.843+4A= (n.843+4A=) c.831+4A= (n.831+4A=) | |
| 12 | g.21562915T>C | CA2617923605 | GYS2 | c.1062+3A>G (n.1062+3A>G) c.*1064+3A>G (n.*1064+3A>G) n.989+3A>G c.843+3A>G (n.843+3A>G) c.831+3A>G (n.831+3A>G) | gnomAD v4 |
| 12 | g.21562916A>C | CA384132122 | GYS2 | c.1062+2T>G (n.1062+2T>G) c.*1064+2T>G (n.*1064+2T>G) n.989+2T>G c.843+2T>G (n.843+2T>G) c.831+2T>G (n.831+2T>G) | |
| 12 | g.21562916A>G | CA384132130 | GYS2 | c.1062+2T>C (n.1062+2T>C) c.*1064+2T>C (n.*1064+2T>C) n.989+2T>C c.843+2T>C (n.843+2T>C) c.831+2T>C (n.831+2T>C) | |
| 12 | g.21562916A>T | CA384132134 | GYS2 | c.1062+2T>A (n.1062+2T>A) c.*1064+2T>A (n.*1064+2T>A) n.989+2T>A c.843+2T>A (n.843+2T>A) c.831+2T>A (n.831+2T>A) | |
| 12 | g.21562917C>A | CA6480015 | GYS2 | c.1062+1G>T (n.1062+1G>T) c.*1064+1G>T (n.*1064+1G>T) n.989+1G>T c.843+1G>T (n.843+1G>T) c.831+1G>T (n.831+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562917C= | CA2021178778 | GYS2 | c.1062+1G= (n.1062+1G=) c.*1064+1G= (n.*1064+1G=) n.989+1G= c.843+1G= (n.843+1G=) c.831+1G= (n.831+1G=) | |
| 12 | g.21562917C>G | CA384132138 | GYS2 | c.1062+1G>C (n.1062+1G>C) c.*1064+1G>C (n.*1064+1G>C) n.989+1G>C c.843+1G>C (n.843+1G>C) c.831+1G>C (n.831+1G>C) | |
| 12 | g.21562917C>T | CA384132137 | GYS2 | c.1062+1G>A (n.1062+1G>A) c.*1064+1G>A (n.*1064+1G>A) n.989+1G>A c.843+1G>A (n.843+1G>A) c.831+1G>A (n.831+1G>A) | gnomAD v4 |
| 12 | g.21562918C>A | CA6480016 | GYS2 | c.1062G>T (p.Arg354Ser) c.*1064G>T (n.*1064G>T) n.989G>T c.843G>T (p.Arg281Ser) c.831G>T (p.Arg277Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21562918C= | CA2021178783 | GYS2 | c.1062G= (p.Arg354=) c.*1064G= (n.*1064G=) n.989G= c.843G= (p.Arg281=) c.831G= (p.Arg277=) | |
| 12 | g.21562918C>G | CA384132146 | GYS2 | c.1062G>C (p.Arg354Ser) c.*1064G>C (n.*1064G>C) n.989G>C c.843G>C (p.Arg281Ser) c.831G>C (p.Arg277Ser) | |
| 12 | g.21562918C>T | CA478869460 | GYS2 | c.1062G>A (p.Arg354=) c.*1064G>A (n.*1064G>A) n.989G>A c.843G>A (p.Arg281=) c.831G>A (p.Arg277=) | gnomAD v4 COSMIC |
| 12 | g.21562919C>A | CA384132150 | GYS2 | c.1061G>T (p.Arg354Met) c.*1063G>T (n.*1063G>T) n.988G>T c.842G>T (p.Arg281Met) c.830G>T (p.Arg277Met) | |
| 12 | g.21562919C= | CA2021178786 | GYS2 | c.1061G= (p.Arg354=) c.*1063G= (n.*1063G=) n.988G= c.842G= (p.Arg281=) c.830G= (p.Arg277=) | |
| 12 | g.21562919C>G | CA384132157 | GYS2 | c.1061G>C (p.Arg354Thr) c.*1063G>C (n.*1063G>C) n.988G>C c.842G>C (p.Arg281Thr) c.830G>C (p.Arg277Thr) | |
| 12 | g.21562919C>T | CA6480017 | GYS2 | c.1061G>A (p.Arg354Lys) c.*1063G>A (n.*1063G>A) n.988G>A c.842G>A (p.Arg281Lys) c.830G>A (p.Arg277Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562920T>A | CA384132161 | GYS2 | c.1060A>T (p.Arg354Trp) c.*1062A>T (n.*1062A>T) n.987A>T c.841A>T (p.Arg281Trp) c.829A>T (p.Arg277Trp) | gnomAD v4 |
| 12 | g.21562920T>C | CA384132162 | GYS2 | c.1060A>G (p.Arg354Gly) c.*1062A>G (n.*1062A>G) n.987A>G c.841A>G (p.Arg281Gly) c.829A>G (p.Arg277Gly) | |
| 12 | g.21562920T>G | CA478869461 | GYS2 | c.1060A>C (p.Arg354=) c.*1062A>C (n.*1062A>C) n.987A>C c.841A>C (p.Arg281=) c.829A>C (p.Arg277=) | |
| 12 | g.21562921C>A | CA478869462 | GYS2 | c.1059G>T (p.Leu353=) c.*1061G>T (n.*1061G>T) n.986G>T c.840G>T (p.Leu280=) c.828G>T (p.Leu276=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21562921C= | CA2021178790 | GYS2 | c.1059G= (p.Leu353=) c.*1061G= (n.*1061G=) n.986G= c.840G= (p.Leu280=) c.828G= (p.Leu276=) | |
| 12 | g.21562921C>G | CA478869463 | GYS2 | c.1059G>C (p.Leu353=) c.*1061G>C (n.*1061G>C) n.986G>C c.840G>C (p.Leu280=) c.828G>C (p.Leu276=) | |
| 12 | g.21562921C>T | CA6480018 | GYS2 | c.1059G>A (p.Leu353=) c.*1061G>A (n.*1061G>A) n.986G>A c.840G>A (p.Leu280=) c.828G>A (p.Leu276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21562922A= | CA2021178793 | GYS2 | c.1058T= (p.Leu353=) c.*1060T= (n.*1060T=) n.985T= c.839T= (p.Leu280=) c.827T= (p.Leu276=) | |
| 12 | g.21562922A>C | CA384132167 | GYS2 | c.1058T>G (p.Leu353Arg) c.*1060T>G (n.*1060T>G) n.985T>G c.839T>G (p.Leu280Arg) c.827T>G (p.Leu276Arg) | dbSNP |
| 12 | g.21562922A>G | CA384132168 | GYS2 | c.1058T>C (p.Leu353Pro) c.*1060T>C (n.*1060T>C) n.985T>C c.839T>C (p.Leu280Pro) c.827T>C (p.Leu276Pro) | |
| 12 | g.21562922A>T | CA384132171 | GYS2 | c.1058T>A (p.Leu353Gln) c.*1060T>A (n.*1060T>A) n.985T>A c.839T>A (p.Leu280Gln) c.827T>A (p.Leu276Gln) | |
| 12 | g.21562923G>A | CA478869464 | GYS2 | c.1057C>T (p.Leu353=) c.*1059C>T (n.*1059C>T) n.984C>T c.838C>T (p.Leu280=) c.826C>T (p.Leu276=) | |
| 12 | g.21562923G>C | CA384132176 | GYS2 | c.1057C>G (p.Leu353Val) c.*1059C>G (n.*1059C>G) n.984C>G c.838C>G (p.Leu280Val) c.826C>G (p.Leu276Val) | |
| 12 | g.21562923G= | CA2021178795 | GYS2 | c.1057C= (p.Leu353=) c.*1059C= (n.*1059C=) n.984C= c.838C= (p.Leu280=) c.826C= (p.Leu276=) | |
| 12 | g.21562923G>T | CA384132179 | GYS2 | c.1057C>A (p.Leu353Met) c.*1059C>A (n.*1059C>A) n.984C>A c.838C>A (p.Leu280Met) c.826C>A (p.Leu276Met) | dbSNP |
| 12 | g.21562924C>A | CA478869467 | GYS2 | c.1056G>T (p.Leu352=) c.*1058G>T (n.*1058G>T) n.983G>T c.837G>T (p.Leu279=) c.825G>T (p.Leu275=) | dbSNP gnomAD v4 |
| 12 | g.21562924C= | CA2021178797 | GYS2 | c.1056G= (p.Leu352=) c.*1058G= (n.*1058G=) n.983G= c.837G= (p.Leu279=) c.825G= (p.Leu275=) | |
| 12 | g.21562924C>G | CA478869465 | GYS2 | c.1056G>C (p.Leu352=) c.*1058G>C (n.*1058G>C) n.983G>C c.837G>C (p.Leu279=) c.825G>C (p.Leu275=) | |
| 12 | g.21562924C>T | CA478869466 | GYS2 | c.1056G>A (p.Leu352=) c.*1058G>A (n.*1058G>A) n.983G>A c.837G>A (p.Leu279=) c.825G>A (p.Leu275=) | |
| 12 | g.21562925A= | CA2021178798 | GYS2 | c.1055T= (p.Leu352=) c.*1057T= (n.*1057T=) n.982T= c.836T= (p.Leu279=) c.824T= (p.Leu275=) | |
| 12 | g.21562925A>C | CA384132183 | GYS2 | c.1055T>G (p.Leu352Arg) c.*1057T>G (n.*1057T>G) n.982T>G c.836T>G (p.Leu279Arg) c.824T>G (p.Leu275Arg) | dbSNP |
| 12 | g.21562925A>G | CA384132181 | GYS2 | c.1055T>C (p.Leu352Pro) c.*1057T>C (n.*1057T>C) n.982T>C c.836T>C (p.Leu279Pro) c.824T>C (p.Leu275Pro) | |
| 12 | g.21562925A>T | CA384132180 | GYS2 | c.1055T>A (p.Leu352Gln) c.*1057T>A (n.*1057T>A) n.982T>A c.836T>A (p.Leu279Gln) c.824T>A (p.Leu275Gln) | |
| 12 | g.21562926G>A | CA478869468 | GYS2 | c.1054C>T (p.Leu352=) c.*1056C>T (n.*1056C>T) n.981C>T c.835C>T (p.Leu279=) c.823C>T (p.Leu275=) | gnomAD v4 |
| 12 | g.21562926G>C | CA384132185 | GYS2 | c.1054C>G (p.Leu352Val) c.*1056C>G (n.*1056C>G) n.981C>G c.835C>G (p.Leu279Val) c.823C>G (p.Leu275Val) | |
| 12 | g.21562926G>T | CA384132187 | GYS2 | c.1054C>A (p.Leu352Met) c.*1056C>A (n.*1056C>A) n.981C>A c.835C>A (p.Leu279Met) c.823C>A (p.Leu275Met) | |
| 12 | g.21562927G>A | CA478869469 | GYS2 | c.1053C>T (p.Phe351=) c.*1055C>T (n.*1055C>T) n.980C>T c.834C>T (p.Phe278=) c.822C>T (p.Phe274=) | gnomAD v4 |
| 12 | g.21562927G>C | CA384132191 | GYS2 | c.1053C>G (p.Phe351Leu) c.*1055C>G (n.*1055C>G) n.980C>G c.834C>G (p.Phe278Leu) c.822C>G (p.Phe274Leu) | |
| 12 | g.21562927G>T | CA384132193 | GYS2 | c.1053C>A (p.Phe351Leu) c.*1055C>A (n.*1055C>A) n.980C>A c.834C>A (p.Phe278Leu) c.822C>A (p.Phe274Leu) | |
| 12 | g.21562928A>C | CA384132196 | GYS2 | c.1052T>G (p.Phe351Cys) c.*1054T>G (n.*1054T>G) n.979T>G c.833T>G (p.Phe278Cys) c.821T>G (p.Phe274Cys) | |
| 12 | g.21562928A>G | CA384132197 | GYS2 | c.1052T>C (p.Phe351Ser) c.*1054T>C (n.*1054T>C) n.979T>C c.833T>C (p.Phe278Ser) c.821T>C (p.Phe274Ser) | |
| 12 | g.21562928A>T | CA384132198 | GYS2 | c.1052T>A (p.Phe351Tyr) c.*1054T>A (n.*1054T>A) n.979T>A c.833T>A (p.Phe278Tyr) c.821T>A (p.Phe274Tyr) | |
| 12 | g.21562929A>C | CA384132199 | GYS2 | c.1051T>G (p.Phe351Val) c.*1053T>G (n.*1053T>G) n.978T>G c.832T>G (p.Phe278Val) c.820T>G (p.Phe274Val) | |
| 12 | g.21562929A>G | CA384132201 | GYS2 | c.1051T>C (p.Phe351Leu) c.*1053T>C (n.*1053T>C) n.978T>C c.832T>C (p.Phe278Leu) c.820T>C (p.Phe274Leu) | |
| 12 | g.21562929A>T | CA384132204 | GYS2 | c.1051T>A (p.Phe351Ile) c.*1053T>A (n.*1053T>A) n.978T>A c.832T>A (p.Phe278Ile) c.820T>A (p.Phe274Ile) | |
| 12 | g.21562930A= | CA2021178800 | GYS2 | c.1050T= (p.Asn350=) c.*1052T= (n.*1052T=) n.977T= c.831T= (p.Asn277=) c.819T= (p.Asn273=) | |
| 12 | g.21562930A>C | CA384132206 | GYS2 | c.1050T>G (p.Asn350Lys) c.*1052T>G (n.*1052T>G) n.977T>G c.831T>G (p.Asn277Lys) c.819T>G (p.Asn273Lys) | |
| 12 | g.21562930A>G | CA478869470 | GYS2 | c.1050T>C (p.Asn350=) c.*1052T>C (n.*1052T>C) n.977T>C c.831T>C (p.Asn277=) c.819T>C (p.Asn273=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21562930A>T | CA384132207 | GYS2 | c.1050T>A (p.Asn350Lys) c.*1052T>A (n.*1052T>A) n.977T>A c.831T>A (p.Asn277Lys) c.819T>A (p.Asn273Lys) | |
| 12 | g.21562931T>A | CA384132220 | GYS2 | c.1049A>T (p.Asn350Ile) c.*1051A>T (n.*1051A>T) n.976A>T c.830A>T (p.Asn277Ile) c.818A>T (p.Asn273Ile) | |
| 12 | g.21562931T>C | CA384132212 | GYS2 | c.1049A>G (p.Asn350Ser) c.*1051A>G (n.*1051A>G) n.976A>G c.830A>G (p.Asn277Ser) c.818A>G (p.Asn273Ser) | |
| 12 | g.21562931T>G | CA384132209 | GYS2 | c.1049A>C (p.Asn350Thr) c.*1051A>C (n.*1051A>C) n.976A>C c.830A>C (p.Asn277Thr) c.818A>C (p.Asn273Thr) | COSMIC |
| 12 | g.21562932T>A | CA384132223 | GYS2 | c.1048A>T (p.Asn350Tyr) c.*1050A>T (n.*1050A>T) n.975A>T c.829A>T (p.Asn277Tyr) c.817A>T (p.Asn273Tyr) | |
| 12 | g.21562932T>C | CA384132229 | GYS2 | c.1048A>G (p.Asn350Asp) c.*1050A>G (n.*1050A>G) n.975A>G c.829A>G (p.Asn277Asp) c.817A>G (p.Asn273Asp) | |
| 12 | g.21562932T>G | CA384132225 | GYS2 | c.1048A>C (p.Asn350His) c.*1050A>C (n.*1050A>C) n.975A>C c.829A>C (p.Asn277His) c.817A>C (p.Asn273His) | |
| 12 | g.21562933T>A | CA478869471 | GYS2 | c.1047A>T (p.Leu349=) c.*1049A>T (n.*1049A>T) n.974A>T c.828A>T (p.Leu276=) c.816A>T (p.Leu272=) | |
| 12 | g.21562933T>C | CA478869472 | GYS2 | c.1047A>G (p.Leu349=) c.*1049A>G (n.*1049A>G) n.974A>G c.828A>G (p.Leu276=) c.816A>G (p.Leu272=) | gnomAD v4 |
| 12 | g.21562933T>G | CA478869473 | GYS2 | c.1047A>C (p.Leu349=) c.*1049A>C (n.*1049A>C) n.974A>C c.828A>C (p.Leu276=) c.816A>C (p.Leu272=) | |
| 12 | g.21562934A= | CA2021178804 | GYS2 | c.1046T= (p.Leu349=) c.*1048T= (n.*1048T=) n.973T= c.827T= (p.Leu276=) c.815T= (p.Leu272=) | |
| 12 | g.21562934A>C | CA384132235 | GYS2 | c.1046T>G (p.Leu349Arg) c.*1048T>G (n.*1048T>G) n.973T>G c.827T>G (p.Leu276Arg) c.815T>G (p.Leu272Arg) | |
| 12 | g.21562934A>G | CA384132242 | GYS2 | c.1046T>C (p.Leu349Pro) c.*1048T>C (n.*1048T>C) n.973T>C c.827T>C (p.Leu276Pro) c.815T>C (p.Leu272Pro) | dbSNP |
| 12 | g.21562934A>T | CA384132244 | GYS2 | c.1046T>A (p.Leu349Gln) c.*1048T>A (n.*1048T>A) n.973T>A c.827T>A (p.Leu276Gln) c.815T>A (p.Leu272Gln) | |
| 12 | g.21562934_21562935insCATATTGGAGTTACCACACTGTT | CA2551633149 | GYS2 | c.1045_1046insAACAGTGTGGTAACTCCAATATG (p.Leu349GlnfsTer9) c.*1047_*1048insAACAGTGTGGTAACTCCAATATG (n.*1047_*1048insAACAGTGTGGTAACTCCAATATG) n.972_973insAACAGTGTGGTAACTCCAATATG c.826_827insAACAGTGTGGTAACTCCAATATG (p.Leu276GlnfsTer9) c.814_815insAACAGTGTGGTAACTCCAATATG (p.Leu272GlnfsTer9) | |
| 12 | g.21562935G>A | CA478869474 | GYS2 | c.1045C>T (p.Leu349=) c.*1047C>T (n.*1047C>T) n.972C>T c.826C>T (p.Leu276=) c.814C>T (p.Leu272=) | |
| 12 | g.21562935G>C | CA384132248 | GYS2 | c.1045C>G (p.Leu349Val) c.*1047C>G (n.*1047C>G) n.972C>G c.826C>G (p.Leu276Val) c.814C>G (p.Leu272Val) | |
| 12 | g.21562935G= | CA2021178806 | GYS2 | c.1045C= (p.Leu349=) c.*1047C= (n.*1047C=) n.972C= c.826C= (p.Leu276=) c.814C= (p.Leu272=) | |
| 12 | g.21562935G>T | CA384132250 | GYS2 | c.1045C>A (p.Leu349Ile) c.*1047C>A (n.*1047C>A) n.972C>A c.826C>A (p.Leu276Ile) c.814C>A (p.Leu272Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562936C>A | CA384132252 | GYS2 | c.1044G>T (p.Arg348Ser) c.*1046G>T (n.*1046G>T) n.971G>T c.825G>T (p.Arg275Ser) c.813G>T (p.Arg271Ser) | |
| 12 | g.21562936C>G | CA384132253 | GYS2 | c.1044G>C (p.Arg348Ser) c.*1046G>C (n.*1046G>C) n.971G>C c.825G>C (p.Arg275Ser) c.813G>C (p.Arg271Ser) | |
| 12 | g.21562936C>T | CA478869475 | GYS2 | c.1044G>A (p.Arg348=) c.*1046G>A (n.*1046G>A) n.971G>A c.825G>A (p.Arg275=) c.813G>A (p.Arg271=) | |
| 12 | g.21562937C>A | CA384132259 | GYS2 | c.1043G>T (p.Arg348Met) c.*1045G>T (n.*1045G>T) n.970G>T c.824G>T (p.Arg275Met) c.812G>T (p.Arg271Met) | |
| 12 | g.21562937C= | CA2021178811 | GYS2 | c.1043G= (p.Arg348=) c.*1045G= (n.*1045G=) n.970G= c.824G= (p.Arg275=) c.812G= (p.Arg271=) | |
| 12 | g.21562937C>G | CA384132263 | GYS2 | c.1043G>C (p.Arg348Thr) c.*1045G>C (n.*1045G>C) n.970G>C c.824G>C (p.Arg275Thr) c.812G>C (p.Arg271Thr) | |
| 12 | g.21562937C>T | CA6480019 | GYS2 | c.1043G>A (p.Arg348Lys) c.*1045G>A (n.*1045G>A) n.970G>A c.824G>A (p.Arg275Lys) c.812G>A (p.Arg271Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21562938T>A | CA384132273 | GYS2 | c.1042A>T (p.Arg348Trp) c.*1044A>T (n.*1044A>T) n.969A>T c.823A>T (p.Arg275Trp) c.811A>T (p.Arg271Trp) | gnomAD v4 |
| 12 | g.21562938T>C | CA384132274 | GYS2 | c.1042A>G (p.Arg348Gly) c.*1044A>G (n.*1044A>G) n.969A>G c.823A>G (p.Arg275Gly) c.811A>G (p.Arg271Gly) | gnomAD v3 gnomAD v4 |
| 12 | g.21562938T>G | CA478869476 | GYS2 | c.1042A>C (p.Arg348=) c.*1044A>C (n.*1044A>C) n.969A>C c.823A>C (p.Arg275=) c.811A>C (p.Arg271=) | |
| 12 | g.21562939G>A | CA478869477 | GYS2 | c.1041C>T (p.Ser347=) c.*1043C>T (n.*1043C>T) n.968C>T c.822C>T (p.Ser274=) c.810C>T (p.Ser270=) | |
| 12 | g.21562939G>C | CA478869478 | GYS2 | c.1041C>G (p.Ser347=) c.*1043C>G (n.*1043C>G) n.968C>G c.822C>G (p.Ser274=) c.810C>G (p.Ser270=) | |
| 12 | g.21562939G>T | CA478869479 | GYS2 | c.1041C>A (p.Ser347=) c.*1043C>A (n.*1043C>A) n.968C>A c.822C>A (p.Ser274=) c.810C>A (p.Ser270=) | |
| 12 | g.21562940G>A | CA384132285 | GYS2 | c.1040C>T (p.Ser347Phe) c.*1042C>T (n.*1042C>T) n.967C>T c.821C>T (p.Ser274Phe) c.809C>T (p.Ser270Phe) | dbSNP |
| 12 | g.21562940G>C | CA384132278 | GYS2 | c.1040C>G (p.Ser347Cys) c.*1042C>G (n.*1042C>G) n.967C>G c.821C>G (p.Ser274Cys) c.809C>G (p.Ser270Cys) | |
| 12 | g.21562940G= | CA2021178814 | GYS2 | c.1040C= (p.Ser347=) c.*1042C= (n.*1042C=) n.967C= c.821C= (p.Ser274=) c.809C= (p.Ser270=) | |
| 12 | g.21562940G>T | CA384132282 | GYS2 | c.1040C>A (p.Ser347Tyr) c.*1042C>A (n.*1042C>A) n.967C>A c.821C>A (p.Ser274Tyr) c.809C>A (p.Ser270Tyr) | |
| 12 | g.21562941A= | CA2021178817 | GYS2 | c.1039T= (p.Ser347=) c.*1041T= (n.*1041T=) n.966T= c.820T= (p.Ser274=) c.808T= (p.Ser270=) | |
| 12 | g.21562941A>C | CA384132289 | GYS2 | c.1039T>G (p.Ser347Ala) c.*1041T>G (n.*1041T>G) n.966T>G c.820T>G (p.Ser274Ala) c.808T>G (p.Ser270Ala) | |
| 12 | g.21562941A>G | CA233607097 | GYS2 | c.1039T>C (p.Ser347Pro) c.*1041T>C (n.*1041T>C) n.966T>C c.820T>C (p.Ser274Pro) c.808T>C (p.Ser270Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21562941A>T | CA384132304 | GYS2 | c.1039T>A (p.Ser347Thr) c.*1041T>A (n.*1041T>A) n.966T>A c.820T>A (p.Ser274Thr) c.808T>A (p.Ser270Thr) | |
| 12 | g.21562942T>A | CA384132307 | GYS2 | c.1038A>T (p.Leu346Phe) c.*1040A>T (n.*1040A>T) n.965A>T c.819A>T (p.Leu273Phe) c.807A>T (p.Leu269Phe) | |
| 12 | g.21562942T>C | CA478869480 | GYS2 | c.1038A>G (p.Leu346=) c.*1040A>G (n.*1040A>G) n.965A>G c.819A>G (p.Leu273=) c.807A>G (p.Leu269=) | gnomAD v4 |
| 12 | g.21562942T>G | CA384132311 | GYS2 | c.1038A>C (p.Leu346Phe) c.*1040A>C (n.*1040A>C) n.965A>C c.819A>C (p.Leu273Phe) c.807A>C (p.Leu269Phe) | |
| 12 | g.21562943A>C | CA384132316 | GYS2 | c.1037T>G (p.Leu346Ter) c.*1039T>G (n.*1039T>G) n.964T>G c.818T>G (p.Leu273Ter) c.806T>G (p.Leu269Ter) | |
| 12 | g.21562943A>G | CA384132319 | GYS2 | c.1037T>C (p.Leu346Ser) c.*1039T>C (n.*1039T>C) n.964T>C c.818T>C (p.Leu273Ser) c.806T>C (p.Leu269Ser) | |
| 12 | g.21562943A>T | CA384132324 | GYS2 | c.1037T>A (p.Leu346Ter) c.*1039T>A (n.*1039T>A) n.964T>A c.818T>A (p.Leu273Ter) c.806T>A (p.Leu269Ter) | |
| 12 | g.21562944A= | CA2021178823 | GYS2 | c.1036T= (p.Leu346=) c.*1038T= (n.*1038T=) n.963T= c.817T= (p.Leu273=) c.805T= (p.Leu269=) | |
| 12 | g.21562944A>C | CA384132328 | GYS2 | c.1036T>G (p.Leu346Val) c.*1038T>G (n.*1038T>G) n.963T>G c.817T>G (p.Leu273Val) c.805T>G (p.Leu269Val) | |
| 12 | g.21562944A>G | CA6480020 | GYS2 | c.1036T>C (p.Leu346=) c.*1038T>C (n.*1038T>C) n.963T>C c.817T>C (p.Leu273=) c.805T>C (p.Leu269=) | dbSNP ExAC gnomAD v2 |
| 12 | g.21562944A>T | CA384132337 | GYS2 | c.1036T>A (p.Leu346Ile) c.*1038T>A (n.*1038T>A) n.963T>A c.817T>A (p.Leu273Ile) c.805T>A (p.Leu269Ile) | |
| 12 | g.21562945G>A | CA478869481 | GYS2 | c.1035C>T (p.Ser345=) c.*1037C>T (n.*1037C>T) n.962C>T c.816C>T (p.Ser272=) c.804C>T (p.Ser268=) | COSMIC |
| 12 | g.21562945G>C | CA478869482 | GYS2 | c.1035C>G (p.Ser345=) c.*1037C>G (n.*1037C>G) n.962C>G c.816C>G (p.Ser272=) c.804C>G (p.Ser268=) | |
| 12 | g.21562945G>T | CA478869483 | GYS2 | c.1035C>A (p.Ser345=) c.*1037C>A (n.*1037C>A) n.962C>A c.816C>A (p.Ser272=) c.804C>A (p.Ser268=) | |
| 12 | g.21562946G>A | CA384132348 | GYS2 | c.1034C>T (p.Ser345Phe) c.*1036C>T (n.*1036C>T) n.961C>T c.815C>T (p.Ser272Phe) c.803C>T (p.Ser268Phe) | COSMIC |
| 12 | g.21562946G>C | CA384132345 | GYS2 | c.1034C>G (p.Ser345Cys) c.*1036C>G (n.*1036C>G) n.961C>G c.815C>G (p.Ser272Cys) c.803C>G (p.Ser268Cys) | |
| 12 | g.21562946G>T | CA384132342 | GYS2 | c.1034C>A (p.Ser345Tyr) c.*1036C>A (n.*1036C>A) n.961C>A c.815C>A (p.Ser272Tyr) c.803C>A (p.Ser268Tyr) | gnomAD v4 |
| 12 | g.21562947A>C | CA384132353 | GYS2 | c.1033T>G (p.Ser345Ala) c.*1035T>G (n.*1035T>G) n.960T>G c.814T>G (p.Ser272Ala) c.802T>G (p.Ser268Ala) | |
| 12 | g.21562947A>G | CA384132365 | GYS2 | c.1033T>C (p.Ser345Pro) c.*1035T>C (n.*1035T>C) n.960T>C c.814T>C (p.Ser272Pro) c.802T>C (p.Ser268Pro) | |
| 12 | g.21562947A>T | CA384132370 | GYS2 | c.1033T>A (p.Ser345Thr) c.*1035T>A (n.*1035T>A) n.960T>A c.814T>A (p.Ser272Thr) c.802T>A (p.Ser268Thr) | |
| 12 | g.21562948T>A | CA384132374 | GYS2 | c.1032A>T (p.Glu344Asp) c.*1034A>T (n.*1034A>T) n.959A>T c.813A>T (p.Glu271Asp) c.801A>T (p.Glu267Asp) | |
| 12 | g.21562948T>C | CA478869484 | GYS2 | c.1032A>G (p.Glu344=) c.*1034A>G (n.*1034A>G) n.959A>G c.813A>G (p.Glu271=) c.801A>G (p.Glu267=) | |
| 12 | g.21562948T>G | CA384132378 | GYS2 | c.1032A>C (p.Glu344Asp) c.*1034A>C (n.*1034A>C) n.959A>C c.813A>C (p.Glu271Asp) c.801A>C (p.Glu267Asp) | gnomAD v4 |
| 12 | g.21562949T>A | CA384132381 | GYS2 | c.1031A>T (p.Glu344Val) c.*1033A>T (n.*1033A>T) n.958A>T c.812A>T (p.Glu271Val) c.800A>T (p.Glu267Val) | |
| 12 | g.21562949T>C | CA384132385 | GYS2 | c.1031A>G (p.Glu344Gly) c.*1033A>G (n.*1033A>G) n.958A>G c.812A>G (p.Glu271Gly) c.800A>G (p.Glu267Gly) | |
| 12 | g.21562949T>G | CA384132388 | GYS2 | c.1031A>C (p.Glu344Ala) c.*1033A>C (n.*1033A>C) n.958A>C c.812A>C (p.Glu271Ala) c.800A>C (p.Glu267Ala) | |
| 12 | g.21562950C>A | CA384132393 | GYS2 | c.1030G>T (p.Glu344Ter) c.*1032G>T (n.*1032G>T) n.957G>T c.811G>T (p.Glu271Ter) c.799G>T (p.Glu267Ter) | gnomAD v4 |
| 12 | g.21562950C>G | CA384132396 | GYS2 | c.1030G>C (p.Glu344Gln) c.*1032G>C (n.*1032G>C) n.957G>C c.811G>C (p.Glu271Gln) c.799G>C (p.Glu267Gln) | |
| 12 | g.21562950C>T | CA384132401 | GYS2 | c.1030G>A (p.Glu344Lys) c.*1032G>A (n.*1032G>A) n.957G>A c.811G>A (p.Glu271Lys) c.799G>A (p.Glu267Lys) | gnomAD v4 |
| 12 | g.21562951T>A | CA478869485 | GYS2 | c.1029A>T (p.Leu343=) c.*1031A>T (n.*1031A>T) n.956A>T c.810A>T (p.Leu270=) c.798A>T (p.Leu266=) | |
| 12 | g.21562951T>C | CA478869487 | GYS2 | c.1029A>G (p.Leu343=) c.*1031A>G (n.*1031A>G) n.956A>G c.810A>G (p.Leu270=) c.798A>G (p.Leu266=) | |
| 12 | g.21562951T>G | CA478869486 | GYS2 | c.1029A>C (p.Leu343=) c.*1031A>C (n.*1031A>C) n.956A>C c.810A>C (p.Leu270=) c.798A>C (p.Leu266=) | |
| 12 | g.21562952A>C | CA384132407 | GYS2 | c.1028T>G (p.Leu343Arg) c.*1030T>G (n.*1030T>G) n.955T>G c.809T>G (p.Leu270Arg) c.797T>G (p.Leu266Arg) | |
| 12 | g.21562952A>G | CA384132411 | GYS2 | c.1028T>C (p.Leu343Pro) c.*1030T>C (n.*1030T>C) n.955T>C c.809T>C (p.Leu270Pro) c.797T>C (p.Leu266Pro) | |
| 12 | g.21562952A>T | CA384132418 | GYS2 | c.1028T>A (p.Leu343Gln) c.*1030T>A (n.*1030T>A) n.955T>A c.809T>A (p.Leu270Gln) c.797T>A (p.Leu266Gln) | |
| 12 | g.21562953G>A | CA478869488 | GYS2 | c.1027C>T (p.Leu343=) c.*1029C>T (n.*1029C>T) n.954C>T c.808C>T (p.Leu270=) c.796C>T (p.Leu266=) | |
| 12 | g.21562953G>C | CA384132426 | GYS2 | c.1027C>G (p.Leu343Val) c.*1029C>G (n.*1029C>G) n.954C>G c.808C>G (p.Leu270Val) c.796C>G (p.Leu266Val) | dbSNP |
| 12 | g.21562953G= | CA2021178826 | GYS2 | c.1027C= (p.Leu343=) c.*1029C= (n.*1029C=) n.954C= c.808C= (p.Leu270=) c.796C= (p.Leu266=) | |
| 12 | g.21562953G>T | CA384132439 | GYS2 | c.1027C>A (p.Leu343Ile) c.*1029C>A (n.*1029C>A) n.954C>A c.808C>A (p.Leu270Ile) c.796C>A (p.Leu266Ile) | |
| 12 | g.21562954G>A | CA6480021 | GYS2 | c.1026C>T (p.Phe342=) c.*1028C>T (n.*1028C>T) n.953C>T c.807C>T (p.Phe269=) c.795C>T (p.Phe265=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562954G>C | CA384132445 | GYS2 | c.1026C>G (p.Phe342Leu) c.*1028C>G (n.*1028C>G) n.953C>G c.807C>G (p.Phe269Leu) c.795C>G (p.Phe265Leu) | gnomAD v4 |
| 12 | g.21562954G= | CA2021178830 | GYS2 | c.1026C= (p.Phe342=) c.*1028C= (n.*1028C=) n.953C= c.807C= (p.Phe269=) c.795C= (p.Phe265=) | |
| 12 | g.21562954G>T | CA384132447 | GYS2 | c.1026C>A (p.Phe342Leu) c.*1028C>A (n.*1028C>A) n.953C>A c.807C>A (p.Phe269Leu) c.795C>A (p.Phe265Leu) | |
| 12 | g.21562955A>C | CA384132450 | GYS2 | c.1025T>G (p.Phe342Cys) c.*1027T>G (n.*1027T>G) n.952T>G c.806T>G (p.Phe269Cys) c.794T>G (p.Phe265Cys) | |
| 12 | g.21562955A>G | CA384132453 | GYS2 | c.1025T>C (p.Phe342Ser) c.*1027T>C (n.*1027T>C) n.952T>C c.806T>C (p.Phe269Ser) c.794T>C (p.Phe265Ser) | |
| 12 | g.21562955A>T | CA384132454 | GYS2 | c.1025T>A (p.Phe342Tyr) c.*1027T>A (n.*1027T>A) n.952T>A c.806T>A (p.Phe269Tyr) c.794T>A (p.Phe265Tyr) | |
| 12 | g.21562956del | CA2617923606 | GYS2 | c.1025del (p.Phe342SerfsTer2) c.*1027del (n.*1027del) n.952del c.806del (p.Phe269SerfsTer2) c.794del (p.Phe265SerfsTer2) | gnomAD v4 |
| 12 | g.21562956A>C | CA384132457 | GYS2 | c.1024T>G (p.Phe342Val) c.*1026T>G (n.*1026T>G) n.951T>G c.805T>G (p.Phe269Val) c.793T>G (p.Phe265Val) | |
| 12 | g.21562956A>G | CA384132459 | GYS2 | c.1024T>C (p.Phe342Leu) c.*1026T>C (n.*1026T>C) n.951T>C c.805T>C (p.Phe269Leu) c.793T>C (p.Phe265Leu) | |
| 12 | g.21562956A>T | CA384132463 | GYS2 | c.1024T>A (p.Phe342Ile) c.*1026T>A (n.*1026T>A) n.951T>A c.805T>A (p.Phe269Ile) c.793T>A (p.Phe265Ile) | |
| 12 | g.21562957G>A | CA478869489 | GYS2 | c.1023C>T (p.Ile341=) c.*1025C>T (n.*1025C>T) n.950C>T c.804C>T (p.Ile268=) c.792C>T (p.Ile264=) | gnomAD v4 COSMIC |
| 12 | g.21562957G>C | CA384132464 | GYS2 | c.1023C>G (p.Ile341Met) c.*1025C>G (n.*1025C>G) n.950C>G c.804C>G (p.Ile268Met) c.792C>G (p.Ile264Met) | |
| 12 | g.21562957G>T | CA478869490 | GYS2 | c.1023C>A (p.Ile341=) c.*1025C>A (n.*1025C>A) n.950C>A c.804C>A (p.Ile268=) c.792C>A (p.Ile264=) | gnomAD v4 |
| 12 | g.21562958A>C | CA384132465 | GYS2 | c.1022T>G (p.Ile341Ser) c.*1024T>G (n.*1024T>G) n.949T>G c.803T>G (p.Ile268Ser) c.791T>G (p.Ile264Ser) | |
| 12 | g.21562958A>G | CA384132466 | GYS2 | c.1022T>C (p.Ile341Thr) c.*1024T>C (n.*1024T>C) n.949T>C c.803T>C (p.Ile268Thr) c.791T>C (p.Ile264Thr) | |
| 12 | g.21562958A>T | CA384132468 | GYS2 | c.1022T>A (p.Ile341Asn) c.*1024T>A (n.*1024T>A) n.949T>A c.803T>A (p.Ile268Asn) c.791T>A (p.Ile264Asn) | gnomAD v4 |
| 12 | g.21562959T>A | CA384132480 | GYS2 | c.1021A>T (p.Ile341Phe) c.*1023A>T (n.*1023A>T) n.948A>T c.802A>T (p.Ile268Phe) c.790A>T (p.Ile264Phe) | |
| 12 | g.21562959T>C | CA384132475 | GYS2 | c.1021A>G (p.Ile341Val) c.*1023A>G (n.*1023A>G) n.948A>G c.802A>G (p.Ile268Val) c.790A>G (p.Ile264Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21562959T>G | CA384132472 | GYS2 | c.1021A>C (p.Ile341Leu) c.*1023A>C (n.*1023A>C) n.948A>C c.802A>C (p.Ile268Leu) c.790A>C (p.Ile264Leu) | |
| 12 | g.21562959T= | CA2021178832 | GYS2 | c.1021A= (p.Ile341=) c.*1023A= (n.*1023A=) n.948A= c.802A= (p.Ile268=) c.790A= (p.Ile264=) | |
| 12 | g.21562960G>A | CA6480022 | GYS2 | c.1020C>T (p.Asp340=) c.*1022C>T (n.*1022C>T) n.947C>T c.801C>T (p.Asp267=) c.789C>T (p.Asp263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562960G>C | CA384132500 | GYS2 | c.1020C>G (p.Asp340Glu) c.*1022C>G (n.*1022C>G) n.947C>G c.801C>G (p.Asp267Glu) c.789C>G (p.Asp263Glu) | |
| 12 | g.21562960G= | CA2021178834 | GYS2 | c.1020C= (p.Asp340=) c.*1022C= (n.*1022C=) n.947C= c.801C= (p.Asp267=) c.789C= (p.Asp263=) | |
| 12 | g.21562960G>T | CA384132490 | GYS2 | c.1020C>A (p.Asp340Glu) c.*1022C>A (n.*1022C>A) n.947C>A c.801C>A (p.Asp267Glu) c.789C>A (p.Asp263Glu) | |
| 12 | g.21562961T>A | CA384132507 | GYS2 | c.1019A>T (p.Asp340Val) c.*1021A>T (n.*1021A>T) n.946A>T c.800A>T (p.Asp267Val) c.788A>T (p.Asp263Val) | |
| 12 | g.21562961T>C | CA384132511 | GYS2 | c.1019A>G (p.Asp340Gly) c.*1021A>G (n.*1021A>G) n.946A>G c.800A>G (p.Asp267Gly) c.788A>G (p.Asp263Gly) | |
| 12 | g.21562961T>G | CA384132509 | GYS2 | c.1019A>C (p.Asp340Ala) c.*1021A>C (n.*1021A>C) n.946A>C c.800A>C (p.Asp267Ala) c.788A>C (p.Asp263Ala) | |
| 12 | g.21562962C>A | CA384132518 | GYS2 | c.1018G>T (p.Asp340Tyr) c.*1020G>T (n.*1020G>T) n.945G>T c.799G>T (p.Asp267Tyr) c.787G>T (p.Asp263Tyr) | |
| 12 | g.21562962C>G | CA384132526 | GYS2 | c.1018G>C (p.Asp340His) c.*1020G>C (n.*1020G>C) n.945G>C c.799G>C (p.Asp267His) c.787G>C (p.Asp263His) | gnomAD v4 |
| 12 | g.21562962C>T | CA384132522 | GYS2 | c.1018G>A (p.Asp340Asn) c.*1020G>A (n.*1020G>A) n.945G>A c.799G>A (p.Asp267Asn) c.787G>A (p.Asp263Asn) | |
| 12 | g.21562963A>C | CA478869492 | GYS2 | c.1017T>G (p.Ala339=) c.*1019T>G (n.*1019T>G) n.944T>G c.798T>G (p.Ala266=) c.786T>G (p.Ala262=) | |
| 12 | g.21562963A>G | CA478869494 | GYS2 | c.1017T>C (p.Ala339=) c.*1019T>C (n.*1019T>C) n.944T>C c.798T>C (p.Ala266=) c.786T>C (p.Ala262=) | |
| 12 | g.21562963A>T | CA478869495 | GYS2 | c.1017T>A (p.Ala339=) c.*1019T>A (n.*1019T>A) n.944T>A c.798T>A (p.Ala266=) c.786T>A (p.Ala262=) | |
| 12 | g.21562964G>A | CA384132530 | GYS2 | c.1016C>T (p.Ala339Val) c.*1018C>T (n.*1018C>T) n.943C>T c.797C>T (p.Ala266Val) c.785C>T (p.Ala262Val) | gnomAD v4 |
| 12 | g.21562964G>C | CA384132533 | GYS2 | c.1016C>G (p.Ala339Gly) c.*1018C>G (n.*1018C>G) n.943C>G c.797C>G (p.Ala266Gly) c.785C>G (p.Ala262Gly) | dbSNP gnomAD v4 |
| 12 | g.21562964G= | CA2021178836 | GYS2 | c.1016C= (p.Ala339=) c.*1018C= (n.*1018C=) n.943C= c.797C= (p.Ala266=) c.785C= (p.Ala262=) | |
| 12 | g.21562964G>T | CA384132537 | GYS2 | c.1016C>A (p.Ala339Asp) c.*1018C>A (n.*1018C>A) n.943C>A c.797C>A (p.Ala266Asp) c.785C>A (p.Ala262Asp) | |
| 12 | g.21562965C>A | CA384132541 | GYS2 | c.1015G>T (p.Ala339Ser) c.*1017G>T (n.*1017G>T) n.942G>T c.796G>T (p.Ala266Ser) c.784G>T (p.Ala262Ser) | |
| 12 | g.21562965C= | CA2021178840 | GYS2 | c.1015G= (p.Ala339=) c.*1017G= (n.*1017G=) n.942G= c.796G= (p.Ala266=) c.784G= (p.Ala262=) | |
| 12 | g.21562965C>G | CA126171 | GYS2 | c.1015G>C (p.Ala339Pro) c.*1017G>C (n.*1017G>C) n.942G>C c.796G>C (p.Ala266Pro) c.784G>C (p.Ala262Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562965C>T | CA384132549 | GYS2 | c.1015G>A (p.Ala339Thr) c.*1017G>A (n.*1017G>A) n.942G>A c.796G>A (p.Ala266Thr) c.784G>A (p.Ala262Thr) | |
| 12 | g.21562966T>A | CA478869497 | GYS2 | c.1014A>T (p.Gly338=) c.*1016A>T (n.*1016A>T) n.941A>T c.795A>T (p.Gly265=) c.783A>T (p.Gly261=) | |
| 12 | g.21562966T>C | CA478869498 | GYS2 | c.1014A>G (p.Gly338=) c.*1016A>G (n.*1016A>G) n.941A>G c.795A>G (p.Gly265=) c.783A>G (p.Gly261=) | |
| 12 | g.21562966T>G | CA478869499 | GYS2 | c.1014A>C (p.Gly338=) c.*1016A>C (n.*1016A>C) n.941A>C c.795A>C (p.Gly265=) c.783A>C (p.Gly261=) | |
| 12 | g.21562967C>A | CA384132554 | GYS2 | c.1013G>T (p.Gly338Val) c.*1015G>T (n.*1015G>T) n.940G>T c.794G>T (p.Gly265Val) c.782G>T (p.Gly261Val) | |
| 12 | g.21562967C= | CA2021178844 | GYS2 | c.1013G= (p.Gly338=) c.*1015G= (n.*1015G=) n.940G= c.794G= (p.Gly265=) c.782G= (p.Gly261=) | |
| 12 | g.21562967C>G | CA384132557 | GYS2 | c.1013G>C (p.Gly338Ala) c.*1015G>C (n.*1015G>C) n.940G>C c.794G>C (p.Gly265Ala) c.782G>C (p.Gly261Ala) | |
| 12 | g.21562967C>T | CA384132558 | GYS2 | c.1013G>A (p.Gly338Glu) c.*1015G>A (n.*1015G>A) n.940G>A c.794G>A (p.Gly265Glu) c.782G>A (p.Gly261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562968C>A | CA384132559 | GYS2 | c.1012G>T (p.Gly338Ter) c.*1014G>T (n.*1014G>T) n.939G>T c.793G>T (p.Gly265Ter) c.781G>T (p.Gly261Ter) | |
| 12 | g.21562968C= | CA2021178847 | GYS2 | c.1012G= (p.Gly338=) c.*1014G= (n.*1014G=) n.939G= c.793G= (p.Gly265=) c.781G= (p.Gly261=) | |
| 12 | g.21562968C>G | CA384132562 | GYS2 | c.1012G>C (p.Gly338Arg) c.*1014G>C (n.*1014G>C) n.939G>C c.793G>C (p.Gly265Arg) c.781G>C (p.Gly261Arg) | |
| 12 | g.21562968C>T | CA6480023 | GYS2 | c.1012G>A (p.Gly338Arg) c.*1014G>A (n.*1014G>A) n.939G>A c.793G>A (p.Gly265Arg) c.781G>A (p.Gly261Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562969T>A | CA384132572 | GYS2 | c.1011A>T (p.Lys337Asn) c.*1013A>T (n.*1013A>T) n.938A>T c.792A>T (p.Lys264Asn) c.780A>T (p.Lys260Asn) | |
| 12 | g.21562969T>C | CA478869503 | GYS2 | c.1011A>G (p.Lys337=) c.*1013A>G (n.*1013A>G) n.938A>G c.792A>G (p.Lys264=) c.780A>G (p.Lys260=) | dbSNP |
| 12 | g.21562969T>G | CA384132571 | GYS2 | c.1011A>C (p.Lys337Asn) c.*1013A>C (n.*1013A>C) n.938A>C c.792A>C (p.Lys264Asn) c.780A>C (p.Lys260Asn) | |
| 12 | g.21562969T= | CA2021178850 | GYS2 | c.1011A= (p.Lys337=) c.*1013A= (n.*1013A=) n.938A= c.792A= (p.Lys264=) c.780A= (p.Lys260=) | |
| 12 | g.21562970T>A | CA384132573 | GYS2 | c.1010A>T (p.Lys337Ile) c.*1012A>T (n.*1012A>T) n.937A>T c.791A>T (p.Lys264Ile) c.779A>T (p.Lys260Ile) | |
| 12 | g.21562970T>C | CA384132576 | GYS2 | c.1010A>G (p.Lys337Arg) c.*1012A>G (n.*1012A>G) n.937A>G c.791A>G (p.Lys264Arg) c.779A>G (p.Lys260Arg) | |
| 12 | g.21562970T>G | CA384132582 | GYS2 | c.1010A>C (p.Lys337Thr) c.*1012A>C (n.*1012A>C) n.937A>C c.791A>C (p.Lys264Thr) c.779A>C (p.Lys260Thr) | |
| 12 | g.21562971T>A | CA384132583 | GYS2 | c.1009A>T (p.Lys337Ter) c.*1011A>T (n.*1011A>T) n.936A>T c.790A>T (p.Lys264Ter) c.778A>T (p.Lys260Ter) | |
| 12 | g.21562971T>C | CA384132586 | GYS2 | c.1009A>G (p.Lys337Glu) c.*1011A>G (n.*1011A>G) n.936A>G c.790A>G (p.Lys264Glu) c.778A>G (p.Lys260Glu) | gnomAD v4 |
| 12 | g.21562971T>G | CA384132589 | GYS2 | c.1009A>C (p.Lys337Gln) c.*1011A>C (n.*1011A>C) n.936A>C c.790A>C (p.Lys264Gln) c.778A>C (p.Lys260Gln) | dbSNP gnomAD v4 |
| 12 | g.21562971T= | CA2021178852 | GYS2 | c.1009A= (p.Lys337=) c.*1011A= (n.*1011A=) n.936A= c.790A= (p.Lys264=) c.778A= (p.Lys260=) | |
| 12 | g.21562972G>A | CA478869504 | GYS2 | c.1008C>T (p.Asn336=) c.*1010C>T (n.*1010C>T) n.935C>T c.789C>T (p.Asn263=) c.777C>T (p.Asn259=) | gnomAD v4 |
| 12 | g.21562972G>C | CA384132594 | GYS2 | c.1008C>G (p.Asn336Lys) c.*1010C>G (n.*1010C>G) n.935C>G c.789C>G (p.Asn263Lys) c.777C>G (p.Asn259Lys) | |
| 12 | g.21562972G>T | CA384132596 | GYS2 | c.1008C>A (p.Asn336Lys) c.*1010C>A (n.*1010C>A) n.935C>A c.789C>A (p.Asn263Lys) c.777C>A (p.Asn259Lys) | |
| 12 | g.21562973T>A | CA384132598 | GYS2 | c.1007A>T (p.Asn336Ile) c.*1009A>T (n.*1009A>T) n.934A>T c.788A>T (p.Asn263Ile) c.776A>T (p.Asn259Ile) | |
| 12 | g.21562973T>C | CA384132600 | GYS2 | c.1007A>G (p.Asn336Ser) c.*1009A>G (n.*1009A>G) n.934A>G c.788A>G (p.Asn263Ser) c.776A>G (p.Asn259Ser) | |
| 12 | g.21562973T>G | CA384132603 | GYS2 | c.1007A>C (p.Asn336Thr) c.*1009A>C (n.*1009A>C) n.934A>C c.788A>C (p.Asn263Thr) c.776A>C (p.Asn259Thr) | |
| 12 | g.21562974T>A | CA384132609 | GYS2 | c.1006A>T (p.Asn336Tyr) c.*1008A>T (n.*1008A>T) n.933A>T c.787A>T (p.Asn263Tyr) c.775A>T (p.Asn259Tyr) | |
| 12 | g.21562974T>C | CA384132608 | GYS2 | c.1006A>G (p.Asn336Asp) c.*1008A>G (n.*1008A>G) n.933A>G c.787A>G (p.Asn263Asp) c.775A>G (p.Asn259Asp) | |
| 12 | g.21562974T>G | CA384132605 | GYS2 | c.1006A>C (p.Asn336His) c.*1008A>C (n.*1008A>C) n.933A>C c.787A>C (p.Asn263His) c.775A>C (p.Asn259His) | |
| 12 | g.21562975T>A | CA478869505 | GYS2 | c.1005A>T (p.Ser335=) c.*1007A>T (n.*1007A>T) n.932A>T c.786A>T (p.Ser262=) c.774A>T (p.Ser258=) | |
| 12 | g.21562975T>C | CA478869506 | GYS2 | c.1005A>G (p.Ser335=) c.*1007A>G (n.*1007A>G) n.932A>G c.786A>G (p.Ser262=) c.774A>G (p.Ser258=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562975T>G | CA478869507 | GYS2 | c.1005A>C (p.Ser335=) c.*1007A>C (n.*1007A>C) n.932A>C c.786A>C (p.Ser262=) c.774A>C (p.Ser258=) | |
| 12 | g.21562975T= | CA2021178855 | GYS2 | c.1005A= (p.Ser335=) c.*1007A= (n.*1007A=) n.932A= c.786A= (p.Ser262=) c.774A= (p.Ser258=) | |
| 12 | g.21562976G>A | CA6480024 | GYS2 | c.1004C>T (p.Ser335Leu) c.*1006C>T (n.*1006C>T) n.931C>T c.785C>T (p.Ser262Leu) c.773C>T (p.Ser258Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562976G>C | CA384132614 | GYS2 | c.1004C>G (p.Ser335Ter) c.*1006C>G (n.*1006C>G) n.931C>G c.785C>G (p.Ser262Ter) c.773C>G (p.Ser258Ter) | |
| 12 | g.21562976G= | CA2021178857 | GYS2 | c.1004C= (p.Ser335=) c.*1006C= (n.*1006C=) n.931C= c.785C= (p.Ser262=) c.773C= (p.Ser258=) | |
| 12 | g.21562976G>T | CA384132618 | GYS2 | c.1004C>A (p.Ser335Ter) c.*1006C>A (n.*1006C>A) n.931C>A c.785C>A (p.Ser262Ter) c.773C>A (p.Ser258Ter) | COSMIC |
| 12 | g.21562977A>C | CA384132623 | GYS2 | c.1003T>G (p.Ser335Ala) c.*1005T>G (n.*1005T>G) n.930T>G c.784T>G (p.Ser262Ala) c.772T>G (p.Ser258Ala) | |
| 12 | g.21562977A>G | CA384132626 | GYS2 | c.1003T>C (p.Ser335Pro) c.*1005T>C (n.*1005T>C) n.930T>C c.784T>C (p.Ser262Pro) c.772T>C (p.Ser258Pro) | |
| 12 | g.21562977A>T | CA384132630 | GYS2 | c.1003T>A (p.Ser335Thr) c.*1005T>A (n.*1005T>A) n.930T>A c.784T>A (p.Ser262Thr) c.772T>A (p.Ser258Thr) | |
| 12 | g.21562978A= | CA2021178862 | GYS2 | c.1002T= (p.Phe334=) c.*1004T= (n.*1004T=) n.929T= c.783T= (p.Phe261=) c.771T= (p.Phe257=) | |
| 12 | g.21562978A>C | CA384132632 | GYS2 | c.1002T>G (p.Phe334Leu) c.*1004T>G (n.*1004T>G) n.929T>G c.783T>G (p.Phe261Leu) c.771T>G (p.Phe257Leu) | |
| 12 | g.21562978A>G | CA233607124 | GYS2 | c.1002T>C (p.Phe334=) c.*1004T>C (n.*1004T>C) n.929T>C c.783T>C (p.Phe261=) c.771T>C (p.Phe257=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21562978A>T | CA384132639 | GYS2 | c.1002T>A (p.Phe334Leu) c.*1004T>A (n.*1004T>A) n.929T>A c.783T>A (p.Phe261Leu) c.771T>A (p.Phe257Leu) | |
| 12 | g.21562979A>C | CA384132644 | GYS2 | c.1001T>G (p.Phe334Cys) c.*1003T>G (n.*1003T>G) n.928T>G c.782T>G (p.Phe261Cys) c.770T>G (p.Phe257Cys) | |
| 12 | g.21562979A>G | CA384132653 | GYS2 | c.1001T>C (p.Phe334Ser) c.*1003T>C (n.*1003T>C) n.928T>C c.782T>C (p.Phe261Ser) c.770T>C (p.Phe257Ser) | |
| 12 | g.21562979A>T | CA384132656 | GYS2 | c.1001T>A (p.Phe334Tyr) c.*1003T>A (n.*1003T>A) n.928T>A c.782T>A (p.Phe261Tyr) c.770T>A (p.Phe257Tyr) | |
| 12 | g.21562980A>C | CA384132670 | GYS2 | c.1000T>G (p.Phe334Val) c.*1002T>G (n.*1002T>G) n.927T>G c.781T>G (p.Phe261Val) c.769T>G (p.Phe257Val) | |
| 12 | g.21562980A>G | CA384132661 | GYS2 | c.1000T>C (p.Phe334Leu) c.*1002T>C (n.*1002T>C) n.927T>C c.781T>C (p.Phe261Leu) c.769T>C (p.Phe257Leu) | |
| 12 | g.21562980A>T | CA384132664 | GYS2 | c.1000T>A (p.Phe334Ile) c.*1002T>A (n.*1002T>A) n.927T>A c.781T>A (p.Phe261Ile) c.769T>A (p.Phe257Ile) | |
| 12 | g.21562981C>A | CA384132673 | GYS2 | c.999G>T (p.Glu333Asp) c.*1001G>T (n.*1001G>T) n.926G>T c.780G>T (p.Glu260Asp) c.768G>T (p.Glu256Asp) | |
| 12 | g.21562981C>G | CA384132675 | GYS2 | c.999G>C (p.Glu333Asp) c.*1001G>C (n.*1001G>C) n.926G>C c.780G>C (p.Glu260Asp) c.768G>C (p.Glu256Asp) | |
| 12 | g.21562981C>T | CA478869508 | GYS2 | c.999G>A (p.Glu333=) c.*1001G>A (n.*1001G>A) n.926G>A c.780G>A (p.Glu260=) c.768G>A (p.Glu256=) | |
| 12 | g.21562982T>A | CA384132680 | GYS2 | c.998A>T (p.Glu333Val) c.*1000A>T (n.*1000A>T) n.925A>T c.779A>T (p.Glu260Val) c.767A>T (p.Glu256Val) | |
| 12 | g.21562982T>C | CA384132686 | GYS2 | c.998A>G (p.Glu333Gly) c.*1000A>G (n.*1000A>G) n.925A>G c.779A>G (p.Glu260Gly) c.767A>G (p.Glu256Gly) | |
| 12 | g.21562982T>G | CA384132689 | GYS2 | c.998A>C (p.Glu333Ala) c.*1000A>C (n.*1000A>C) n.925A>C c.779A>C (p.Glu260Ala) c.767A>C (p.Glu256Ala) | |
| 12 | g.21562983C>A | CA384132694 | GYS2 | c.997G>T (p.Glu333Ter) c.*999G>T (n.*999G>T) n.924G>T c.778G>T (p.Glu260Ter) c.766G>T (p.Glu256Ter) | |
| 12 | g.21562983C= | CA2021178865 | GYS2 | c.997G= (p.Glu333=) c.*999G= (n.*999G=) n.924G= c.778G= (p.Glu260=) c.766G= (p.Glu256=) | |
| 12 | g.21562983C>G | CA384132697 | GYS2 | c.997G>C (p.Glu333Gln) c.*999G>C (n.*999G>C) n.924G>C c.778G>C (p.Glu260Gln) c.766G>C (p.Glu256Gln) | dbSNP gnomAD v2 |
| 12 | g.21562983C>T | CA384132701 | GYS2 | c.997G>A (p.Glu333Lys) c.*999G>A (n.*999G>A) n.924G>A c.778G>A (p.Glu260Lys) c.766G>A (p.Glu256Lys) | |
| 12 | g.21562983_21562985delinsCAT | CA2021178864 | GYS2 | c.995_997delinsATG (p.Tyr332=) c.*997_*999delinsATG (n.*997_*999delinsATG) n.922_924delinsATG c.776_778delinsATG (p.Tyr259=) c.764_766delinsATG (p.Tyr255=) | |
| 12 | g.21562984A>C | CA384132705 | GYS2 | c.996T>G (p.Tyr332Ter) c.*998T>G (n.*998T>G) n.923T>G c.777T>G (p.Tyr259Ter) c.765T>G (p.Tyr255Ter) | |
| 12 | g.21562984A>G | CA478869510 | GYS2 | c.996T>C (p.Tyr332=) c.*998T>C (n.*998T>C) n.923T>C c.777T>C (p.Tyr259=) c.765T>C (p.Tyr255=) | gnomAD v4 |
| 12 | g.21562984A>T | CA384132708 | GYS2 | c.996T>A (p.Tyr332Ter) c.*998T>A (n.*998T>A) n.923T>A c.777T>A (p.Tyr259Ter) c.765T>A (p.Tyr255Ter) | |
| 12 | g.21562985_21562986del | CA6480025 | GYS2 | c.995_996del (p.Tyr332Ter) c.*997_*998del (n.*997_*998del) n.922_923del c.776_777del (p.Tyr259Ter) c.764_765del (p.Tyr255Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21562985T>A | CA384132734 | GYS2 | c.995A>T (p.Tyr332Phe) c.*997A>T (n.*997A>T) n.922A>T c.776A>T (p.Tyr259Phe) c.764A>T (p.Tyr255Phe) | |
| 12 | g.21562985T>C | CA384132727 | GYS2 | c.995A>G (p.Tyr332Cys) c.*997A>G (n.*997A>G) n.922A>G c.776A>G (p.Tyr259Cys) c.764A>G (p.Tyr255Cys) | |
| 12 | g.21562985T>G | CA384132724 | GYS2 | c.995A>C (p.Tyr332Ser) c.*997A>C (n.*997A>C) n.922A>C c.776A>C (p.Tyr259Ser) c.764A>C (p.Tyr255Ser) | |
| 12 | g.21562986A= | CA2021178871 | GYS2 | c.994T= (p.Tyr332=) c.*996T= (n.*996T=) n.921T= c.775T= (p.Tyr259=) c.763T= (p.Tyr255=) | |
| 12 | g.21562986A>C | CA384132737 | GYS2 | c.994T>G (p.Tyr332Asp) c.*996T>G (n.*996T>G) n.921T>G c.775T>G (p.Tyr259Asp) c.763T>G (p.Tyr255Asp) | |
| 12 | g.21562986A>G | CA384132744 | GYS2 | c.994T>C (p.Tyr332His) c.*996T>C (n.*996T>C) n.921T>C c.775T>C (p.Tyr259His) c.763T>C (p.Tyr255His) | |
| 12 | g.21562986A>T | CA6480026 | GYS2 | c.994T>A (p.Tyr332Asn) c.*996T>A (n.*996T>A) n.921T>A c.775T>A (p.Tyr259Asn) c.763T>A (p.Tyr255Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21562987C>A | CA233607133 | GYS2 | c.993G>T (p.Arg331Ser) c.*995G>T (n.*995G>T) n.920G>T c.774G>T (p.Arg258Ser) c.762G>T (p.Arg254Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21562987C= | CA2021178875 | GYS2 | c.993G= (p.Arg331=) c.*995G= (n.*995G=) n.920G= c.774G= (p.Arg258=) c.762G= (p.Arg254=) | |
| 12 | g.21562987C>G | CA384132753 | GYS2 | c.993G>C (p.Arg331Ser) c.*995G>C (n.*995G>C) n.920G>C c.774G>C (p.Arg258Ser) c.762G>C (p.Arg254Ser) | |
| 12 | g.21562987C>T | CA478869511 | GYS2 | c.993G>A (p.Arg331=) c.*995G>A (n.*995G>A) n.920G>A c.774G>A (p.Arg258=) c.762G>A (p.Arg254=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21562988C>A | CA384132759 | GYS2 | c.992G>T (p.Arg331Met) c.*994G>T (n.*994G>T) n.919G>T c.773G>T (p.Arg258Met) c.761G>T (p.Arg254Met) | |
| 12 | g.21562988C= | CA2021178881 | GYS2 | c.992G= (p.Arg331=) c.*994G= (n.*994G=) n.919G= c.773G= (p.Arg258=) c.761G= (p.Arg254=) | |
| 12 | g.21562988C>G | CA384132762 | GYS2 | c.992G>C (p.Arg331Thr) c.*994G>C (n.*994G>C) n.919G>C c.773G>C (p.Arg258Thr) c.761G>C (p.Arg254Thr) | |
| 12 | g.21562988C>T | CA6480027 | GYS2 | c.992G>A (p.Arg331Lys) c.*994G>A (n.*994G>A) n.919G>A c.773G>A (p.Arg258Lys) c.761G>A (p.Arg254Lys) | dbSNP ExAC gnomAD v2 COSMIC |
| 12 | g.21562989T>A | CA384132763 | GYS2 | c.991A>T (p.Arg331Trp) c.*993A>T (n.*993A>T) n.918A>T c.772A>T (p.Arg258Trp) c.760A>T (p.Arg254Trp) | |
| 12 | g.21562989T>C | CA384132764 | GYS2 | c.991A>G (p.Arg331Gly) c.*993A>G (n.*993A>G) n.918A>G c.772A>G (p.Arg258Gly) c.760A>G (p.Arg254Gly) | |
| 12 | g.21562989T>G | CA478869515 | GYS2 | c.991A>C (p.Arg331=) c.*993A>C (n.*993A>C) n.918A>C c.772A>C (p.Arg258=) c.760A>C (p.Arg254=) | |
| 12 | g.21562990C>A | CA478869516 | GYS2 | c.990G>T (p.Gly330=) c.*992G>T (n.*992G>T) n.917G>T c.771G>T (p.Gly257=) c.759G>T (p.Gly253=) | |
| 12 | g.21562990C>G | CA478869517 | GYS2 | c.990G>C (p.Gly330=) c.*992G>C (n.*992G>C) n.917G>C c.771G>C (p.Gly257=) c.759G>C (p.Gly253=) | |
| 12 | g.21562990C>T | CA478869518 | GYS2 | c.990G>A (p.Gly330=) c.*992G>A (n.*992G>A) n.917G>A c.771G>A (p.Gly257=) c.759G>A (p.Gly253=) | gnomAD v4 |
| 12 | g.21562991C>A | CA233607142 | GYS2 | c.989G>T (p.Gly330Val) c.*991G>T (n.*991G>T) n.916G>T c.770G>T (p.Gly257Val) c.758G>T (p.Gly253Val) | dbSNP |
| 12 | g.21562991C= | CA2021178884 | GYS2 | c.989G= (p.Gly330=) c.*991G= (n.*991G=) n.916G= c.770G= (p.Gly257=) c.758G= (p.Gly253=) | |
| 12 | g.21562991C>G | CA384132768 | GYS2 | c.989G>C (p.Gly330Ala) c.*991G>C (n.*991G>C) n.916G>C c.770G>C (p.Gly257Ala) c.758G>C (p.Gly253Ala) | dbSNP gnomAD v4 |
| 12 | g.21562991C>T | CA384132770 | GYS2 | c.989G>A (p.Gly330Glu) c.*991G>A (n.*991G>A) n.916G>A c.770G>A (p.Gly257Glu) c.758G>A (p.Gly253Glu) | gnomAD v4 |
| 12 | g.21562992C>A | CA384132775 | GYS2 | c.988G>T (p.Gly330Trp) c.*990G>T (n.*990G>T) n.915G>T c.769G>T (p.Gly257Trp) c.757G>T (p.Gly253Trp) | COSMIC |
| 12 | g.21562992C>G | CA384132787 | GYS2 | c.988G>C (p.Gly330Arg) c.*990G>C (n.*990G>C) n.915G>C c.769G>C (p.Gly257Arg) c.757G>C (p.Gly253Arg) | |
| 12 | g.21562992C>T | CA384132791 | GYS2 | c.988G>A (p.Gly330Arg) c.*990G>A (n.*990G>A) n.915G>A c.769G>A (p.Gly257Arg) c.757G>A (p.Gly253Arg) | |
| 12 | g.21562993A>C | CA478869522 | GYS2 | c.987T>G (p.Ala329=) c.*989T>G (n.*989T>G) n.914T>G c.768T>G (p.Ala256=) c.756T>G (p.Ala252=) | |
| 12 | g.21562993A>G | CA478869520 | GYS2 | c.987T>C (p.Ala329=) c.*989T>C (n.*989T>C) n.914T>C c.768T>C (p.Ala256=) c.756T>C (p.Ala252=) | |
| 12 | g.21562993A>T | CA478869519 | GYS2 | c.987T>A (p.Ala329=) c.*989T>A (n.*989T>A) n.914T>A c.768T>A (p.Ala256=) c.756T>A (p.Ala252=) |