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.21546312_21546320dup | CA2617922563 | GYS2 | c.1549+28_1549+36dup (n.1549+28_1549+36dup) c.*1551+28_*1551+36dup (n.*1551+28_*1551+36dup) c.1330+28_1330+36dup (n.1330+28_1330+36dup) c.1318+28_1318+36dup (n.1318+28_1318+36dup) | gnomAD v4 |
| 12 | g.21546318T>C | CA2617922574 | GYS2 | c.1549+26A>G (n.1549+26A>G) c.*1551+26A>G (n.*1551+26A>G) c.1330+26A>G (n.1330+26A>G) c.1318+26A>G (n.1318+26A>G) | gnomAD v4 |
| 12 | g.21546319T>C | CA2617922575 | GYS2 | c.1549+25A>G (n.1549+25A>G) c.*1551+25A>G (n.*1551+25A>G) c.1330+25A>G (n.1330+25A>G) c.1318+25A>G (n.1318+25A>G) | gnomAD v4 |
| 12 | g.21546320C>G | CA2617922576 | GYS2 | c.1549+24G>C (n.1549+24G>C) c.*1551+24G>C (n.*1551+24G>C) c.1330+24G>C (n.1330+24G>C) c.1318+24G>C (n.1318+24G>C) | gnomAD v4 |
| 12 | g.21546320C>T | CA2617922577 | GYS2 | c.1549+24G>A (n.1549+24G>A) c.*1551+24G>A (n.*1551+24G>A) c.1330+24G>A (n.1330+24G>A) c.1318+24G>A (n.1318+24G>A) | gnomAD v4 |
| 12 | g.21546321C= | CA2021166818 | GYS2 | c.1549+23G= (n.1549+23G=) c.*1551+23G= (n.*1551+23G=) c.1330+23G= (n.1330+23G=) c.1318+23G= (n.1318+23G=) | |
| 12 | g.21546321C>T | CA6479792 | GYS2 | c.1549+23G>A (n.1549+23G>A) c.*1551+23G>A (n.*1551+23G>A) c.1330+23G>A (n.1330+23G>A) c.1318+23G>A (n.1318+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546322A>G | CA2575098323 | GYS2 | c.1549+22T>C (n.1549+22T>C) c.*1551+22T>C (n.*1551+22T>C) c.1330+22T>C (n.1330+22T>C) c.1318+22T>C (n.1318+22T>C) | gnomAD v4 |
| 12 | g.21546323C= | CA2021166820 | GYS2 | c.1549+21G= (n.1549+21G=) c.*1551+21G= (n.*1551+21G=) c.1330+21G= (n.1330+21G=) c.1318+21G= (n.1318+21G=) | |
| 12 | g.21546323C>T | CA945509589 | GYS2 | c.1549+21G>A (n.1549+21G>A) c.*1551+21G>A (n.*1551+21G>A) c.1330+21G>A (n.1330+21G>A) c.1318+21G>A (n.1318+21G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546324A>G | CA2617922578 | GYS2 | c.1549+20T>C (n.1549+20T>C) c.*1551+20T>C (n.*1551+20T>C) c.1330+20T>C (n.1330+20T>C) c.1318+20T>C (n.1318+20T>C) | gnomAD v4 |
| 12 | g.21546324A>T | CA658786194 | GYS2 | c.1549+20T>A (n.1549+20T>A) c.*1551+20T>A (n.*1551+20T>A) c.1330+20T>A (n.1330+20T>A) c.1318+20T>A (n.1318+20T>A) | |
| 12 | g.21546325C= | CA2021166825 | GYS2 | c.1549+19G= (n.1549+19G=) c.*1551+19G= (n.*1551+19G=) c.1330+19G= (n.1330+19G=) c.1318+19G= (n.1318+19G=) | |
| 12 | g.21546325C>T | CA6479793 | GYS2 | c.1549+19G>A (n.1549+19G>A) c.*1551+19G>A (n.*1551+19G>A) c.1330+19G>A (n.1330+19G>A) c.1318+19G>A (n.1318+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546326T>A | CA603667814 | GYS2 | c.1549+18A>T (n.1549+18A>T) c.*1551+18A>T (n.*1551+18A>T) c.1330+18A>T (n.1330+18A>T) c.1318+18A>T (n.1318+18A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546326T>C | CA686406085 | GYS2 | c.1549+18A>G (n.1549+18A>G) c.*1551+18A>G (n.*1551+18A>G) c.1330+18A>G (n.1330+18A>G) c.1318+18A>G (n.1318+18A>G) | dbSNP |
| 12 | g.21546326T= | CA2021166831 | GYS2 | c.1549+18A= (n.1549+18A=) c.*1551+18A= (n.*1551+18A=) c.1330+18A= (n.1330+18A=) c.1318+18A= (n.1318+18A=) | |
| 12 | g.21546327C= | CA2021166833 | GYS2 | c.1549+17G= (n.1549+17G=) c.*1551+17G= (n.*1551+17G=) c.1330+17G= (n.1330+17G=) c.1318+17G= (n.1318+17G=) | |
| 12 | g.21546327C>G | CA6479794 | GYS2 | c.1549+17G>C (n.1549+17G>C) c.*1551+17G>C (n.*1551+17G>C) c.1330+17G>C (n.1330+17G>C) c.1318+17G>C (n.1318+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546327C>T | CA2617922580 | GYS2 | c.1549+17G>A (n.1549+17G>A) c.*1551+17G>A (n.*1551+17G>A) c.1330+17G>A (n.1330+17G>A) c.1318+17G>A (n.1318+17G>A) | gnomAD v4 |
| 12 | g.21546328T>C | CA2617922581 | GYS2 | c.1549+16A>G (n.1549+16A>G) c.*1551+16A>G (n.*1551+16A>G) c.1330+16A>G (n.1330+16A>G) c.1318+16A>G (n.1318+16A>G) | gnomAD v4 |
| 12 | g.21546329A= | CA2021166837 | GYS2 | c.1549+15T= (n.1549+15T=) c.*1551+15T= (n.*1551+15T=) c.1330+15T= (n.1330+15T=) c.1318+15T= (n.1318+15T=) | |
| 12 | g.21546329A>G | CA2021166838 | GYS2 | c.1549+15T>C (n.1549+15T>C) c.*1551+15T>C (n.*1551+15T>C) c.1330+15T>C (n.1330+15T>C) c.1318+15T>C (n.1318+15T>C) | dbSNP |
| 12 | g.21546330T>A | CA2794809891 | GYS2 | c.1549+14A>T (n.1549+14A>T) c.*1551+14A>T (n.*1551+14A>T) c.1330+14A>T (n.1330+14A>T) c.1318+14A>T (n.1318+14A>T) | |
| 12 | g.21546330T>C | CA2021166841 | GYS2 | c.1549+14A>G (n.1549+14A>G) c.*1551+14A>G (n.*1551+14A>G) c.1330+14A>G (n.1330+14A>G) c.1318+14A>G (n.1318+14A>G) | dbSNP gnomAD v4 |
| 12 | g.21546330T= | CA2021166840 | GYS2 | c.1549+14A= (n.1549+14A=) c.*1551+14A= (n.*1551+14A=) c.1330+14A= (n.1330+14A=) c.1318+14A= (n.1318+14A=) | |
| 12 | g.21546331A= | CA2021166843 | GYS2 | c.1549+13T= (n.1549+13T=) c.*1551+13T= (n.*1551+13T=) c.1330+13T= (n.1330+13T=) c.1318+13T= (n.1318+13T=) | |
| 12 | g.21546331A>G | CA6479795 | GYS2 | c.1549+13T>C (n.1549+13T>C) c.*1551+13T>C (n.*1551+13T>C) c.1330+13T>C (n.1330+13T>C) c.1318+13T>C (n.1318+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546332C= | CA2021166845 | GYS2 | c.1549+12G= (n.1549+12G=) c.*1551+12G= (n.*1551+12G=) c.1330+12G= (n.1330+12G=) c.1318+12G= (n.1318+12G=) | |
| 12 | g.21546332C>G | CA2575098324 | GYS2 | c.1549+12G>C (n.1549+12G>C) c.*1551+12G>C (n.*1551+12G>C) c.1330+12G>C (n.1330+12G>C) c.1318+12G>C (n.1318+12G>C) | |
| 12 | g.21546332C>T | CA6479796 | GYS2 | c.1549+12G>A (n.1549+12G>A) c.*1551+12G>A (n.*1551+12G>A) c.1330+12G>A (n.1330+12G>A) c.1318+12G>A (n.1318+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546333A>C | CA2617922583 | GYS2 | c.1549+11T>G (n.1549+11T>G) c.*1551+11T>G (n.*1551+11T>G) c.1330+11T>G (n.1330+11T>G) c.1318+11T>G (n.1318+11T>G) | gnomAD v4 |
| 12 | g.21546334T>C | CA2617922584 | GYS2 | c.1549+10A>G (n.1549+10A>G) c.*1551+10A>G (n.*1551+10A>G) c.1330+10A>G (n.1330+10A>G) c.1318+10A>G (n.1318+10A>G) | gnomAD v4 |
| 12 | g.21546335G>A | CA6479797 | GYS2 | c.1549+9C>T (n.1549+9C>T) c.*1551+9C>T (n.*1551+9C>T) c.1330+9C>T (n.1330+9C>T) c.1318+9C>T (n.1318+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546335G= | CA2021166848 | GYS2 | c.1549+9C= (n.1549+9C=) c.*1551+9C= (n.*1551+9C=) c.1330+9C= (n.1330+9C=) c.1318+9C= (n.1318+9C=) | |
| 12 | g.21546335G>T | CA2617922585 | GYS2 | c.1549+9C>A (n.1549+9C>A) c.*1551+9C>A (n.*1551+9C>A) c.1330+9C>A (n.1330+9C>A) c.1318+9C>A (n.1318+9C>A) | gnomAD v4 |
| 12 | g.21546336A>G | CA2617922586 | GYS2 | c.1549+8T>C (n.1549+8T>C) c.*1551+8T>C (n.*1551+8T>C) c.1330+8T>C (n.1330+8T>C) c.1318+8T>C (n.1318+8T>C) | gnomAD v4 |
| 12 | g.21546337C>A | CA2617922587 | GYS2 | c.1549+7G>T (n.1549+7G>T) c.*1551+7G>T (n.*1551+7G>T) c.1330+7G>T (n.1330+7G>T) c.1318+7G>T (n.1318+7G>T) | dbSNP gnomAD v4 |
| 12 | g.21546337C= | CA2021166850 | GYS2 | c.1549+7G= (n.1549+7G=) c.*1551+7G= (n.*1551+7G=) c.1330+7G= (n.1330+7G=) c.1318+7G= (n.1318+7G=) | |
| 12 | g.21546337C>T | CA2021166851 | GYS2 | c.1549+7G>A (n.1549+7G>A) c.*1551+7G>A (n.*1551+7G>A) c.1330+7G>A (n.1330+7G>A) c.1318+7G>A (n.1318+7G>A) | dbSNP gnomAD v4 |
| 12 | g.21546339C>A | CA686406095 | GYS2 | c.1549+5G>T (n.1549+5G>T) c.*1551+5G>T (n.*1551+5G>T) c.1330+5G>T (n.1330+5G>T) c.1318+5G>T (n.1318+5G>T) | dbSNP gnomAD v4 |
| 12 | g.21546339C= | CA2021166852 | GYS2 | c.1549+5G= (n.1549+5G=) c.*1551+5G= (n.*1551+5G=) c.1330+5G= (n.1330+5G=) c.1318+5G= (n.1318+5G=) | |
| 12 | g.21546341T>A | CA2617922588 | GYS2 | c.1549+3A>T (n.1549+3A>T) c.*1551+3A>T (n.*1551+3A>T) c.1330+3A>T (n.1330+3A>T) c.1318+3A>T (n.1318+3A>T) | gnomAD v4 |
| 12 | g.21546341T>C | CA2617922589 | GYS2 | c.1549+3A>G (n.1549+3A>G) c.*1551+3A>G (n.*1551+3A>G) c.1330+3A>G (n.1330+3A>G) c.1318+3A>G (n.1318+3A>G) | gnomAD v4 |
| 12 | g.21546342A>C | CA384121429 | GYS2 | c.1549+2T>G (n.1549+2T>G) c.*1551+2T>G (n.*1551+2T>G) c.1330+2T>G (n.1330+2T>G) c.1318+2T>G (n.1318+2T>G) | |
| 12 | g.21546342A>G | CA384121437 | GYS2 | c.1549+2T>C (n.1549+2T>C) c.*1551+2T>C (n.*1551+2T>C) c.1330+2T>C (n.1330+2T>C) c.1318+2T>C (n.1318+2T>C) | |
| 12 | g.21546342A>T | CA384121439 | GYS2 | c.1549+2T>A (n.1549+2T>A) c.*1551+2T>A (n.*1551+2T>A) c.1330+2T>A (n.1330+2T>A) c.1318+2T>A (n.1318+2T>A) | |
| 12 | g.21546343C>A | CA384121443 | GYS2 | c.1549+1G>T (n.1549+1G>T) c.*1551+1G>T (n.*1551+1G>T) c.1330+1G>T (n.1330+1G>T) c.1318+1G>T (n.1318+1G>T) | |
| 12 | g.21546343C>G | CA384121450 | GYS2 | c.1549+1G>C (n.1549+1G>C) c.*1551+1G>C (n.*1551+1G>C) c.1330+1G>C (n.1330+1G>C) c.1318+1G>C (n.1318+1G>C) | |
| 12 | g.21546343C>T | CA384121455 | GYS2 | c.1549+1G>A (n.1549+1G>A) c.*1551+1G>A (n.*1551+1G>A) c.1330+1G>A (n.1330+1G>A) c.1318+1G>A (n.1318+1G>A) | gnomAD v4 |
| 12 | g.21546344del | CA2617922590 | GYS2 | c.1549+1del c.*1551+1del c.1330+1del c.1318+1del | gnomAD v4 |
| 12 | g.21546344C>A | CA384121458 | GYS2 | c.1549G>T (p.Ala517Ser) c.*1551G>T (n.*1551G>T) c.1330G>T (p.Ala444Ser) c.1318G>T (p.Ala440Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546344C= | CA2021166859 | GYS2 | c.1549G= (p.Ala517=) c.*1551G= (n.*1551G=) c.1330G= (p.Ala444=) c.1318G= (p.Ala440=) | |
| 12 | g.21546344C>G | CA10637024 | GYS2 | c.1549G>C (p.Ala517Pro) c.*1551G>C (n.*1551G>C) c.1330G>C (p.Ala444Pro) c.1318G>C (p.Ala440Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546344C>T | CA6479798 | GYS2 | c.1549G>A (p.Ala517Thr) c.*1551G>A (n.*1551G>A) c.1330G>A (p.Ala444Thr) c.1318G>A (p.Ala440Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546345T>A | CA478868687 | GYS2 | c.1548A>T (p.Pro516=) c.*1550A>T (n.*1550A>T) c.1329A>T (p.Pro443=) c.1317A>T (p.Pro439=) | |
| 12 | g.21546345T>C | CA478868688 | GYS2 | c.1548A>G (p.Pro516=) c.*1550A>G (n.*1550A>G) c.1329A>G (p.Pro443=) c.1317A>G (p.Pro439=) | |
| 12 | g.21546345T>G | CA478868689 | GYS2 | c.1548A>C (p.Pro516=) c.*1550A>C (n.*1550A>C) c.1329A>C (p.Pro443=) c.1317A>C (p.Pro439=) | |
| 12 | g.21546346G>A | CA384121459 | GYS2 | c.1547C>T (p.Pro516Leu) c.*1549C>T (n.*1549C>T) c.1328C>T (p.Pro443Leu) c.1316C>T (p.Pro439Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546346G>C | CA384121462 | GYS2 | c.1547C>G (p.Pro516Arg) c.*1549C>G (n.*1549C>G) c.1328C>G (p.Pro443Arg) c.1316C>G (p.Pro439Arg) | |
| 12 | g.21546346G= | CA2021166863 | GYS2 | c.1547C= (p.Pro516=) c.*1549C= (n.*1549C=) c.1328C= (p.Pro443=) c.1316C= (p.Pro439=) | |
| 12 | g.21546346G>T | CA384121472 | GYS2 | c.1547C>A (p.Pro516Gln) c.*1549C>A (n.*1549C>A) c.1328C>A (p.Pro443Gln) c.1316C>A (p.Pro439Gln) | gnomAD v4 |
| 12 | g.21546347del | CA2575098325 | GYS2 | c.1547del (p.Pro516GlnfsTer6) c.*1549del (n.*1549del) c.1328del (p.Pro443GlnfsTer6) c.1316del (p.Pro439GlnfsTer6) | |
| 12 | g.21546347G>A | CA384121479 | GYS2 | c.1546C>T (p.Pro516Ser) c.*1548C>T (n.*1548C>T) c.1327C>T (p.Pro443Ser) c.1315C>T (p.Pro439Ser) | |
| 12 | g.21546347G>C | CA384121497 | GYS2 | c.1546C>G (p.Pro516Ala) c.*1548C>G (n.*1548C>G) c.1327C>G (p.Pro443Ala) c.1315C>G (p.Pro439Ala) | |
| 12 | g.21546347G>T | CA384121483 | GYS2 | c.1546C>A (p.Pro516Thr) c.*1548C>A (n.*1548C>A) c.1327C>A (p.Pro443Thr) c.1315C>A (p.Pro439Thr) | gnomAD v4 |
| 12 | g.21546348A= | CA2021166866 | GYS2 | c.1545T= (p.Thr515=) c.*1547T= (n.*1547T=) c.1326T= (p.Thr442=) c.1314T= (p.Thr438=) | |
| 12 | g.21546348A>C | CA478868690 | GYS2 | c.1545T>G (p.Thr515=) c.*1547T>G (n.*1547T>G) c.1326T>G (p.Thr442=) c.1314T>G (p.Thr438=) | |
| 12 | g.21546348A>G | CA6479799 | GYS2 | c.1545T>C (p.Thr515=) c.*1547T>C (n.*1547T>C) c.1326T>C (p.Thr442=) c.1314T>C (p.Thr438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546348A>T | CA478868691 | GYS2 | c.1545T>A (p.Thr515=) c.*1547T>A (n.*1547T>A) c.1326T>A (p.Thr442=) c.1314T>A (p.Thr438=) | |
| 12 | g.21546349G>A | CA384121503 | GYS2 | c.1544C>T (p.Thr515Ile) c.*1546C>T (n.*1546C>T) c.1325C>T (p.Thr442Ile) c.1313C>T (p.Thr438Ile) | dbSNP gnomAD v4 |
| 12 | g.21546349G>C | CA384121504 | GYS2 | c.1544C>G (p.Thr515Ser) c.*1546C>G (n.*1546C>G) c.1325C>G (p.Thr442Ser) c.1313C>G (p.Thr438Ser) | |
| 12 | g.21546349G= | CA2021166871 | GYS2 | c.1544C= (p.Thr515=) c.*1546C= (n.*1546C=) c.1325C= (p.Thr442=) c.1313C= (p.Thr438=) | |
| 12 | g.21546349G>T | CA384121508 | GYS2 | c.1544C>A (p.Thr515Asn) c.*1546C>A (n.*1546C>A) c.1325C>A (p.Thr442Asn) c.1313C>A (p.Thr438Asn) | gnomAD v4 |
| 12 | g.21546350T>A | CA384121515 | GYS2 | c.1543A>T (p.Thr515Ser) c.*1545A>T (n.*1545A>T) c.1324A>T (p.Thr442Ser) c.1312A>T (p.Thr438Ser) | |
| 12 | g.21546350T>C | CA384121516 | GYS2 | c.1543A>G (p.Thr515Ala) c.*1545A>G (n.*1545A>G) c.1324A>G (p.Thr442Ala) c.1312A>G (p.Thr438Ala) | |
| 12 | g.21546350T>G | CA384121517 | GYS2 | c.1543A>C (p.Thr515Pro) c.*1545A>C (n.*1545A>C) c.1324A>C (p.Thr442Pro) c.1312A>C (p.Thr438Pro) | |
| 12 | g.21546351A>C | CA384121522 | GYS2 | c.1542T>G (p.Tyr514Ter) c.*1544T>G (n.*1544T>G) c.1323T>G (p.Tyr441Ter) c.1311T>G (p.Tyr437Ter) | |
| 12 | g.21546351A>G | CA478868692 | GYS2 | c.1542T>C (p.Tyr514=) c.*1544T>C (n.*1544T>C) c.1323T>C (p.Tyr441=) c.1311T>C (p.Tyr437=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21546351A>T | CA384121530 | GYS2 | c.1542T>A (p.Tyr514Ter) c.*1544T>A (n.*1544T>A) c.1323T>A (p.Tyr441Ter) c.1311T>A (p.Tyr437Ter) | |
| 12 | g.21546352del | CA2794809897 | GYS2 | c.1541del (p.Tyr514LeufsTer8) c.*1543del (n.*1543del) c.1322del (p.Tyr441LeufsTer8) c.1310del (p.Tyr437LeufsTer8) | |
| 12 | g.21546352T>A | CA384121549 | GYS2 | c.1541A>T (p.Tyr514Phe) c.*1543A>T (n.*1543A>T) c.1322A>T (p.Tyr441Phe) c.1310A>T (p.Tyr437Phe) | |
| 12 | g.21546352T>C | CA384121556 | GYS2 | c.1541A>G (p.Tyr514Cys) c.*1543A>G (n.*1543A>G) c.1322A>G (p.Tyr441Cys) c.1310A>G (p.Tyr437Cys) | |
| 12 | g.21546352T>G | CA384121578 | GYS2 | c.1541A>C (p.Tyr514Ser) c.*1543A>C (n.*1543A>C) c.1322A>C (p.Tyr441Ser) c.1310A>C (p.Tyr437Ser) | |
| 12 | g.21546353A>C | CA384121606 | GYS2 | c.1540T>G (p.Tyr514Asp) c.*1542T>G (n.*1542T>G) c.1321T>G (p.Tyr441Asp) c.1309T>G (p.Tyr437Asp) | |
| 12 | g.21546353A>G | CA384121585 | GYS2 | c.1540T>C (p.Tyr514His) c.*1542T>C (n.*1542T>C) c.1321T>C (p.Tyr441His) c.1309T>C (p.Tyr437His) | |
| 12 | g.21546353A>T | CA384121596 | GYS2 | c.1540T>A (p.Tyr514Asn) c.*1542T>A (n.*1542T>A) c.1321T>A (p.Tyr441Asn) c.1309T>A (p.Tyr437Asn) | |
| 12 | g.21546354A>C | CA478868693 | GYS2 | c.1539T>G (p.Gly513=) c.*1541T>G (n.*1541T>G) c.1320T>G (p.Gly440=) c.1308T>G (p.Gly436=) | |
| 12 | g.21546354A>G | CA478868694 | GYS2 | c.1539T>C (p.Gly513=) c.*1541T>C (n.*1541T>C) c.1320T>C (p.Gly440=) c.1308T>C (p.Gly436=) | |
| 12 | g.21546354A>T | CA478868695 | GYS2 | c.1539T>A (p.Gly513=) c.*1541T>A (n.*1541T>A) c.1320T>A (p.Gly440=) c.1308T>A (p.Gly436=) | |
| 12 | g.21546355C>A | CA384121611 | GYS2 | c.1538G>T (p.Gly513Val) c.*1540G>T (n.*1540G>T) c.1319G>T (p.Gly440Val) c.1307G>T (p.Gly436Val) | |
| 12 | g.21546355C>G | CA384121613 | GYS2 | c.1538G>C (p.Gly513Ala) c.*1540G>C (n.*1540G>C) c.1319G>C (p.Gly440Ala) c.1307G>C (p.Gly436Ala) | |
| 12 | g.21546355C>T | CA384121614 | GYS2 | c.1538G>A (p.Gly513Asp) c.*1540G>A (n.*1540G>A) c.1319G>A (p.Gly440Asp) c.1307G>A (p.Gly436Asp) | gnomAD v4 |
| 12 | g.21546358del | CA2617922591 | GYS2 | c.1538del (p.Gly513ValfsTer9) c.*1540del (n.*1540del) c.1319del (p.Gly440ValfsTer9) c.1307del (p.Gly436ValfsTer9) | gnomAD v4 |
| 12 | g.21546356C>A | CA384121625 | GYS2 | c.1537G>T (p.Gly513Cys) c.*1539G>T (n.*1539G>T) c.1318G>T (p.Gly440Cys) c.1306G>T (p.Gly436Cys) | |
| 12 | g.21546356C>G | CA384121636 | GYS2 | c.1537G>C (p.Gly513Arg) c.*1539G>C (n.*1539G>C) c.1318G>C (p.Gly440Arg) c.1306G>C (p.Gly436Arg) | |
| 12 | g.21546356C>T | CA384121642 | GYS2 | c.1537G>A (p.Gly513Ser) c.*1539G>A (n.*1539G>A) c.1318G>A (p.Gly440Ser) c.1306G>A (p.Gly436Ser) | |
| 12 | g.21546357C>A | CA384121646 | GYS2 | c.1536G>T (p.Trp512Cys) c.*1538G>T (n.*1538G>T) c.1317G>T (p.Trp439Cys) c.1305G>T (p.Trp435Cys) | |
| 12 | g.21546357C= | CA2021166874 | GYS2 | c.1536G= (p.Trp512=) c.*1538G= (n.*1538G=) c.1317G= (p.Trp439=) c.1305G= (p.Trp435=) | |
| 12 | g.21546357C>G | CA384121654 | GYS2 | c.1536G>C (p.Trp512Cys) c.*1538G>C (n.*1538G>C) c.1317G>C (p.Trp439Cys) c.1305G>C (p.Trp435Cys) | |
| 12 | g.21546357C>T | CA384121662 | GYS2 | c.1536G>A (p.Trp512Ter) c.*1538G>A (n.*1538G>A) c.1317G>A (p.Trp439Ter) c.1305G>A (p.Trp435Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21546358C>A | CA384121667 | GYS2 | c.1535G>T (p.Trp512Leu) c.*1537G>T (n.*1537G>T) c.1316G>T (p.Trp439Leu) c.1304G>T (p.Trp435Leu) | |
| 12 | g.21546358C= | CA2021166877 | GYS2 | c.1535G= (p.Trp512=) c.*1537G= (n.*1537G=) c.1316G= (p.Trp439=) c.1304G= (p.Trp435=) | |
| 12 | g.21546358C>G | CA384121672 | GYS2 | c.1535G>C (p.Trp512Ser) c.*1537G>C (n.*1537G>C) c.1316G>C (p.Trp439Ser) c.1304G>C (p.Trp435Ser) | |
| 12 | g.21546358C>T | CA6479800 | GYS2 | c.1535G>A (p.Trp512Ter) c.*1537G>A (n.*1537G>A) c.1316G>A (p.Trp439Ter) c.1304G>A (p.Trp435Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21546359A>C | CA384121697 | GYS2 | c.1534T>G (p.Trp512Gly) c.*1536T>G (n.*1536T>G) c.1315T>G (p.Trp439Gly) c.1303T>G (p.Trp435Gly) | |
| 12 | g.21546359A>G | CA384121698 | GYS2 | c.1534T>C (p.Trp512Arg) c.*1536T>C (n.*1536T>C) c.1315T>C (p.Trp439Arg) c.1303T>C (p.Trp435Arg) | gnomAD v4 |
| 12 | g.21546359A>T | CA384121694 | GYS2 | c.1534T>A (p.Trp512Arg) c.*1536T>A (n.*1536T>A) c.1315T>A (p.Trp439Arg) c.1303T>A (p.Trp435Arg) | |
| 12 | g.21546360G>A | CA233583530 | GYS2 | c.1533C>T (p.Pro511=) c.*1535C>T (n.*1535C>T) c.1314C>T (p.Pro438=) c.1302C>T (p.Pro434=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546360G>C | CA478868696 | GYS2 | c.1533C>G (p.Pro511=) c.*1535C>G (n.*1535C>G) c.1314C>G (p.Pro438=) c.1302C>G (p.Pro434=) | gnomAD v4 |
| 12 | g.21546360G= | CA2021166879 | GYS2 | c.1533C= (p.Pro511=) c.*1535C= (n.*1535C=) c.1314C= (p.Pro438=) c.1302C= (p.Pro434=) | |
| 12 | g.21546360G>T | CA478868697 | GYS2 | c.1533C>A (p.Pro511=) c.*1535C>A (n.*1535C>A) c.1314C>A (p.Pro438=) c.1302C>A (p.Pro434=) | gnomAD v4 |
| 12 | g.21546361G>A | CA384121701 | GYS2 | c.1532C>T (p.Pro511Leu) c.*1534C>T (n.*1534C>T) c.1313C>T (p.Pro438Leu) c.1301C>T (p.Pro434Leu) | gnomAD v4 |
| 12 | g.21546361G>C | CA384121699 | GYS2 | c.1532C>G (p.Pro511Arg) c.*1534C>G (n.*1534C>G) c.1313C>G (p.Pro438Arg) c.1301C>G (p.Pro434Arg) | |
| 12 | g.21546361G>T | CA384121709 | GYS2 | c.1532C>A (p.Pro511His) c.*1534C>A (n.*1534C>A) c.1313C>A (p.Pro438His) c.1301C>A (p.Pro434His) | gnomAD v4 |
| 12 | g.21546362G>A | CA384121716 | GYS2 | c.1531C>T (p.Pro511Ser) c.*1533C>T (n.*1533C>T) c.1312C>T (p.Pro438Ser) c.1300C>T (p.Pro434Ser) | gnomAD v4 |
| 12 | g.21546362G>C | CA384121725 | GYS2 | c.1531C>G (p.Pro511Ala) c.*1533C>G (n.*1533C>G) c.1312C>G (p.Pro438Ala) c.1300C>G (p.Pro434Ala) | |
| 12 | g.21546362G>T | CA384121720 | GYS2 | c.1531C>A (p.Pro511Thr) c.*1533C>A (n.*1533C>A) c.1312C>A (p.Pro438Thr) c.1300C>A (p.Pro434Thr) | gnomAD v4 |
| 12 | g.21546363T>A | CA384121728 | GYS2 | c.1530A>T (p.Glu510Asp) c.*1532A>T (n.*1532A>T) c.1311A>T (p.Glu437Asp) c.1299A>T (p.Glu433Asp) | |
| 12 | g.21546363T>C | CA478868698 | GYS2 | c.1530A>G (p.Glu510=) c.*1532A>G (n.*1532A>G) c.1311A>G (p.Glu437=) c.1299A>G (p.Glu433=) | gnomAD v4 |
| 12 | g.21546363T>G | CA384121729 | GYS2 | c.1530A>C (p.Glu510Asp) c.*1532A>C (n.*1532A>C) c.1311A>C (p.Glu437Asp) c.1299A>C (p.Glu433Asp) | |
| 12 | g.21546364T>A | CA384121736 | GYS2 | c.1529A>T (p.Glu510Val) c.*1531A>T (n.*1531A>T) c.1310A>T (p.Glu437Val) c.1298A>T (p.Glu433Val) | |
| 12 | g.21546364T>C | CA384121743 | GYS2 | c.1529A>G (p.Glu510Gly) c.*1531A>G (n.*1531A>G) c.1310A>G (p.Glu437Gly) c.1298A>G (p.Glu433Gly) | |
| 12 | g.21546364T>G | CA384121752 | GYS2 | c.1529A>C (p.Glu510Ala) c.*1531A>C (n.*1531A>C) c.1310A>C (p.Glu437Ala) c.1298A>C (p.Glu433Ala) | |
| 12 | g.21546365C>A | CA384121774 | GYS2 | c.1528G>T (p.Glu510Ter) c.*1530G>T (n.*1530G>T) c.1309G>T (p.Glu437Ter) c.1297G>T (p.Glu433Ter) | |
| 12 | g.21546365C= | CA2021166883 | GYS2 | c.1528G= (p.Glu510=) c.*1530G= (n.*1530G=) c.1309G= (p.Glu437=) c.1297G= (p.Glu433=) | |
| 12 | g.21546365C>G | CA384121779 | GYS2 | c.1528G>C (p.Glu510Gln) c.*1530G>C (n.*1530G>C) c.1309G>C (p.Glu437Gln) c.1297G>C (p.Glu433Gln) | |
| 12 | g.21546365C>T | CA384121786 | GYS2 | c.1528G>A (p.Glu510Lys) c.*1530G>A (n.*1530G>A) c.1309G>A (p.Glu437Lys) c.1297G>A (p.Glu433Lys) | dbSNP gnomAD v4 |
| 12 | g.21546366A>C | CA384121787 | GYS2 | c.1527T>G (p.Tyr509Ter) c.*1529T>G (n.*1529T>G) c.1308T>G (p.Tyr436Ter) c.1296T>G (p.Tyr432Ter) | gnomAD v4 |
| 12 | g.21546366A>G | CA478868699 | GYS2 | c.1527T>C (p.Tyr509=) c.*1529T>C (n.*1529T>C) c.1308T>C (p.Tyr436=) c.1296T>C (p.Tyr432=) | |
| 12 | g.21546366A>T | CA384121791 | GYS2 | c.1527T>A (p.Tyr509Ter) c.*1529T>A (n.*1529T>A) c.1308T>A (p.Tyr436Ter) c.1296T>A (p.Tyr432Ter) | |
| 12 | g.21546367T>A | CA384121827 | GYS2 | c.1526A>T (p.Tyr509Phe) c.*1528A>T (n.*1528A>T) c.1307A>T (p.Tyr436Phe) c.1295A>T (p.Tyr432Phe) | |
| 12 | g.21546367T>C | CA384121814 | GYS2 | c.1526A>G (p.Tyr509Cys) c.*1528A>G (n.*1528A>G) c.1307A>G (p.Tyr436Cys) c.1295A>G (p.Tyr432Cys) | dbSNP gnomAD v4 |
| 12 | g.21546367T>G | CA384121796 | GYS2 | c.1526A>C (p.Tyr509Ser) c.*1528A>C (n.*1528A>C) c.1307A>C (p.Tyr436Ser) c.1295A>C (p.Tyr432Ser) | |
| 12 | g.21546367T= | CA2021166886 | GYS2 | c.1526A= (p.Tyr509=) c.*1528A= (n.*1528A=) c.1307A= (p.Tyr436=) c.1295A= (p.Tyr432=) | |
| 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=) |