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 |
|---|---|---|---|---|---|
| X | g.32348491G>A | CA327985188 | DMD | c.209C>T (p.Ser70Leu) c.5363C>T (p.Ser1788Leu) c.1331C>T (p.Ser444Leu) c.5351C>T (p.Ser1784Leu) n.336-131428C>T c.20C>T (p.Ser7Leu) c.5339C>T (p.Ser1780Leu) c.4994C>T (p.Ser1665Leu) c.1340C>T (p.Ser447Leu) c.5234C>T (p.Ser1745Leu) c.5326-2411C>T (n.5326-2411C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32348491G>C | CA273304 | DMD | c.209C>G (p.Ser70Ter) c.5363C>G (p.Ser1788Ter) c.1331C>G (p.Ser444Ter) c.5351C>G (p.Ser1784Ter) n.336-131428C>G c.20C>G (p.Ser7Ter) c.5339C>G (p.Ser1780Ter) c.4994C>G (p.Ser1665Ter) c.1340C>G (p.Ser447Ter) c.5234C>G (p.Ser1745Ter) c.5326-2411C>G (n.5326-2411C>G) | ClinVar dbSNP |
| X | g.32348491G= | CA2422762990 | DMD | c.209C= (p.Ser70=) c.5363C= (p.Ser1788=) c.1331C= (p.Ser444=) c.5351C= (p.Ser1784=) n.336-131428C= c.20C= (p.Ser7=) c.5339C= (p.Ser1780=) c.4994C= (p.Ser1665=) c.1340C= (p.Ser447=) c.5234C= (p.Ser1745=) c.5326-2411C= (n.5326-2411C=) | |
| X | g.32348491G>T | CA412667998 | DMD | c.209C>A (p.Ser70Ter) c.5363C>A (p.Ser1788Ter) c.1331C>A (p.Ser444Ter) c.5351C>A (p.Ser1784Ter) n.336-131428C>A c.20C>A (p.Ser7Ter) c.5339C>A (p.Ser1780Ter) c.4994C>A (p.Ser1665Ter) c.1340C>A (p.Ser447Ter) c.5234C>A (p.Ser1745Ter) c.5326-2411C>A (n.5326-2411C>A) | ClinVar dbSNP |
| X | g.32348492A>C | CA412668000 | DMD | c.208T>G (p.Ser70Ala) c.5362T>G (p.Ser1788Ala) c.1330T>G (p.Ser444Ala) c.5350T>G (p.Ser1784Ala) n.336-131429T>G c.19T>G (p.Ser7Ala) c.5338T>G (p.Ser1780Ala) c.4993T>G (p.Ser1665Ala) c.1339T>G (p.Ser447Ala) c.5233T>G (p.Ser1745Ala) c.5326-2412T>G (n.5326-2412T>G) | |
| X | g.32348492A>G | CA412668002 | DMD | c.208T>C (p.Ser70Pro) c.5362T>C (p.Ser1788Pro) c.1330T>C (p.Ser444Pro) c.5350T>C (p.Ser1784Pro) n.336-131429T>C c.19T>C (p.Ser7Pro) c.5338T>C (p.Ser1780Pro) c.4993T>C (p.Ser1665Pro) c.1339T>C (p.Ser447Pro) c.5233T>C (p.Ser1745Pro) c.5326-2412T>C (n.5326-2412T>C) | |
| X | g.32348492A>T | CA412668004 | DMD | c.208T>A (p.Ser70Thr) c.5362T>A (p.Ser1788Thr) c.1330T>A (p.Ser444Thr) c.5350T>A (p.Ser1784Thr) n.336-131429T>A c.19T>A (p.Ser7Thr) c.5338T>A (p.Ser1780Thr) c.4993T>A (p.Ser1665Thr) c.1339T>A (p.Ser447Thr) c.5233T>A (p.Ser1745Thr) c.5326-2412T>A (n.5326-2412T>A) | |
| X | g.32348493G>A | CA10654307 | DMD | c.207C>T (p.Asn69=) c.5361C>T (p.Asn1787=) c.1329C>T (p.Asn443=) c.5349C>T (p.Asn1783=) n.336-131430C>T c.18C>T (p.Asn6=) c.5337C>T (p.Asn1779=) c.4992C>T (p.Asn1664=) c.1338C>T (p.Asn446=) c.5232C>T (p.Asn1744=) c.5326-2413C>T (n.5326-2413C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.32348493G>C | CA412668007 | DMD | c.207C>G (p.Asn69Lys) c.5361C>G (p.Asn1787Lys) c.1329C>G (p.Asn443Lys) c.5349C>G (p.Asn1783Lys) n.336-131430C>G c.18C>G (p.Asn6Lys) c.5337C>G (p.Asn1779Lys) c.4992C>G (p.Asn1664Lys) c.1338C>G (p.Asn446Lys) c.5232C>G (p.Asn1744Lys) c.5326-2413C>G (n.5326-2413C>G) | |
| X | g.32348493G= | CA2422762991 | DMD | c.207C= (p.Asn69=) c.5361C= (p.Asn1787=) c.1329C= (p.Asn443=) c.5349C= (p.Asn1783=) n.336-131430C= c.18C= (p.Asn6=) c.5337C= (p.Asn1779=) c.4992C= (p.Asn1664=) c.1338C= (p.Asn446=) c.5232C= (p.Asn1744=) c.5326-2413C= (n.5326-2413C=) | |
| X | g.32348493G>T | CA412668009 | DMD | c.207C>A (p.Asn69Lys) c.5361C>A (p.Asn1787Lys) c.1329C>A (p.Asn443Lys) c.5349C>A (p.Asn1783Lys) n.336-131430C>A c.18C>A (p.Asn6Lys) c.5337C>A (p.Asn1779Lys) c.4992C>A (p.Asn1664Lys) c.1338C>A (p.Asn446Lys) c.5232C>A (p.Asn1744Lys) c.5326-2413C>A (n.5326-2413C>A) | |
| X | g.32348494T>A | CA412668011 | DMD | c.206A>T (p.Asn69Ile) c.5360A>T (p.Asn1787Ile) c.1328A>T (p.Asn443Ile) c.5348A>T (p.Asn1783Ile) n.336-131431A>T c.17A>T (p.Asn6Ile) c.5336A>T (p.Asn1779Ile) c.4991A>T (p.Asn1664Ile) c.1337A>T (p.Asn446Ile) c.5231A>T (p.Asn1744Ile) c.5326-2414A>T (n.5326-2414A>T) | dbSNP gnomAD v4 |
| X | g.32348494T>C | CA412668013 | DMD | c.206A>G (p.Asn69Ser) c.5360A>G (p.Asn1787Ser) c.1328A>G (p.Asn443Ser) c.5348A>G (p.Asn1783Ser) n.336-131431A>G c.17A>G (p.Asn6Ser) c.5336A>G (p.Asn1779Ser) c.4991A>G (p.Asn1664Ser) c.1337A>G (p.Asn446Ser) c.5231A>G (p.Asn1744Ser) c.5326-2414A>G (n.5326-2414A>G) | |
| X | g.32348494T>G | CA412668015 | DMD | c.206A>C (p.Asn69Thr) c.5360A>C (p.Asn1787Thr) c.1328A>C (p.Asn443Thr) c.5348A>C (p.Asn1783Thr) n.336-131431A>C c.17A>C (p.Asn6Thr) c.5336A>C (p.Asn1779Thr) c.4991A>C (p.Asn1664Thr) c.1337A>C (p.Asn446Thr) c.5231A>C (p.Asn1744Thr) c.5326-2414A>C (n.5326-2414A>C) | gnomAD v4 |
| X | g.32348494T= | CA2422762992 | DMD | c.206A= (p.Asn69=) c.5360A= (p.Asn1787=) c.1328A= (p.Asn443=) c.5348A= (p.Asn1783=) n.336-131431A= c.17A= (p.Asn6=) c.5336A= (p.Asn1779=) c.4991A= (p.Asn1664=) c.1337A= (p.Asn446=) c.5231A= (p.Asn1744=) c.5326-2414A= (n.5326-2414A=) | |
| X | g.32348495dup | CA10605960 | DMD | c.206dup (p.Asn69LysfsTer9) c.5360dup (p.Asn1787LysfsTer9) c.1328dup (p.Asn443LysfsTer9) c.5348dup (p.Asn1783LysfsTer9) n.336-131431dup c.17dup (p.Asn6LysfsTer9) c.5336dup (p.Asn1779LysfsTer9) c.4991dup (p.Asn1664LysfsTer9) c.1337dup (p.Asn446LysfsTer9) c.5231dup (p.Asn1744LysfsTer9) c.5326-2414dup (n.5326-2414dup) | ClinVar dbSNP |
| X | g.32348495T>A | CA412668021 | DMD | c.205A>T (p.Asn69Tyr) c.5359A>T (p.Asn1787Tyr) c.1327A>T (p.Asn443Tyr) c.5347A>T (p.Asn1783Tyr) n.336-131432A>T c.16A>T (p.Asn6Tyr) c.5335A>T (p.Asn1779Tyr) c.4990A>T (p.Asn1664Tyr) c.1336A>T (p.Asn446Tyr) c.5230A>T (p.Asn1744Tyr) c.5326-2415A>T (n.5326-2415A>T) | |
| X | g.32348495T>C | CA412668019 | DMD | c.205A>G (p.Asn69Asp) c.5359A>G (p.Asn1787Asp) c.1327A>G (p.Asn443Asp) c.5347A>G (p.Asn1783Asp) n.336-131432A>G c.16A>G (p.Asn6Asp) c.5335A>G (p.Asn1779Asp) c.4990A>G (p.Asn1664Asp) c.1336A>G (p.Asn446Asp) c.5230A>G (p.Asn1744Asp) c.5326-2415A>G (n.5326-2415A>G) | gnomAD v4 |
| X | g.32348495T>G | CA412668018 | DMD | c.205A>C (p.Asn69His) c.5359A>C (p.Asn1787His) c.1327A>C (p.Asn443His) c.5347A>C (p.Asn1783His) n.336-131432A>C c.16A>C (p.Asn6His) c.5335A>C (p.Asn1779His) c.4990A>C (p.Asn1664His) c.1336A>C (p.Asn446His) c.5230A>C (p.Asn1744His) c.5326-2415A>C (n.5326-2415A>C) | |
| X | g.32348495_32348496delinsTA | CA2422762993 | DMD | c.204_205delinsTA (p.Phe68=) c.5358_5359delinsTA (p.Phe1786=) c.1326_1327delinsTA (p.Phe442=) c.5346_5347delinsTA (p.Phe1782=) n.336-131433_336-131432delinsTA c.15_16delinsTA (p.Phe5=) c.5334_5335delinsTA (p.Phe1778=) c.4989_4990delinsTA (p.Phe1663=) c.1335_1336delinsTA (p.Phe445=) c.5229_5230delinsTA (p.Phe1743=) c.5326-2416_5326-2415delinsTA (n.5326-2416_5326-2415delinsTA) | |
| X | g.32348496A= | CA2422762994 | DMD | c.204T= (p.Phe68=) c.5358T= (p.Phe1786=) c.1326T= (p.Phe442=) c.5346T= (p.Phe1782=) n.336-131433T= c.15T= (p.Phe5=) c.5334T= (p.Phe1778=) c.4989T= (p.Phe1663=) c.1335T= (p.Phe445=) c.5229T= (p.Phe1743=) c.5326-2416T= (n.5326-2416T=) | |
| X | g.32348496A>C | CA412668024 | DMD | c.204T>G (p.Phe68Leu) c.5358T>G (p.Phe1786Leu) c.1326T>G (p.Phe442Leu) c.5346T>G (p.Phe1782Leu) n.336-131433T>G c.15T>G (p.Phe5Leu) c.5334T>G (p.Phe1778Leu) c.4989T>G (p.Phe1663Leu) c.1335T>G (p.Phe445Leu) c.5229T>G (p.Phe1743Leu) c.5326-2416T>G (n.5326-2416T>G) | |
| X | g.32348496A>G | CA10603839 | DMD | c.204T>C (p.Phe68=) c.5358T>C (p.Phe1786=) c.1326T>C (p.Phe442=) c.5346T>C (p.Phe1782=) n.336-131433T>C c.15T>C (p.Phe5=) c.5334T>C (p.Phe1778=) c.4989T>C (p.Phe1663=) c.1335T>C (p.Phe445=) c.5229T>C (p.Phe1743=) c.5326-2416T>C (n.5326-2416T>C) | ClinVar dbSNP gnomAD v4 |
| X | g.32348496A>T | CA412668027 | DMD | c.204T>A (p.Phe68Leu) c.5358T>A (p.Phe1786Leu) c.1326T>A (p.Phe442Leu) c.5346T>A (p.Phe1782Leu) n.336-131433T>A c.15T>A (p.Phe5Leu) c.5334T>A (p.Phe1778Leu) c.4989T>A (p.Phe1663Leu) c.1335T>A (p.Phe445Leu) c.5229T>A (p.Phe1743Leu) c.5326-2416T>A (n.5326-2416T>A) | |
| X | g.32348498del | CA915950931 | DMD | c.204del (p.Phe68LeufsTer20) c.5358del (p.Phe1786LeufsTer20) c.1326del (p.Phe442LeufsTer20) c.5346del (p.Phe1782LeufsTer20) n.336-131433del c.15del (p.Phe5LeufsTer20) c.5334del (p.Phe1778LeufsTer20) c.4989del (p.Phe1663LeufsTer20) c.1335del (p.Phe445LeufsTer20) c.5229del (p.Phe1743LeufsTer20) c.5326-2416del (n.5326-2416del) | ClinVar dbSNP |
| X | g.32348497A>C | CA412668029 | DMD | c.203T>G (p.Phe68Cys) c.5357T>G (p.Phe1786Cys) c.1325T>G (p.Phe442Cys) c.5345T>G (p.Phe1782Cys) n.336-131434T>G c.14T>G (p.Phe5Cys) c.5333T>G (p.Phe1778Cys) c.4988T>G (p.Phe1663Cys) c.1334T>G (p.Phe445Cys) c.5228T>G (p.Phe1743Cys) c.5326-2417T>G (n.5326-2417T>G) | |
| X | g.32348497A>G | CA412668031 | DMD | c.203T>C (p.Phe68Ser) c.5357T>C (p.Phe1786Ser) c.1325T>C (p.Phe442Ser) c.5345T>C (p.Phe1782Ser) n.336-131434T>C c.14T>C (p.Phe5Ser) c.5333T>C (p.Phe1778Ser) c.4988T>C (p.Phe1663Ser) c.1334T>C (p.Phe445Ser) c.5228T>C (p.Phe1743Ser) c.5326-2417T>C (n.5326-2417T>C) | |
| X | g.32348497A>T | CA412668033 | DMD | c.203T>A (p.Phe68Tyr) c.5357T>A (p.Phe1786Tyr) c.1325T>A (p.Phe442Tyr) c.5345T>A (p.Phe1782Tyr) n.336-131434T>A c.14T>A (p.Phe5Tyr) c.5333T>A (p.Phe1778Tyr) c.4988T>A (p.Phe1663Tyr) c.1334T>A (p.Phe445Tyr) c.5228T>A (p.Phe1743Tyr) c.5326-2417T>A (n.5326-2417T>A) | |
| X | g.32348498A>C | CA412668039 | DMD | c.202T>G (p.Phe68Val) c.5356T>G (p.Phe1786Val) c.1324T>G (p.Phe442Val) c.5344T>G (p.Phe1782Val) n.336-131435T>G c.13T>G (p.Phe5Val) c.5332T>G (p.Phe1778Val) c.4987T>G (p.Phe1663Val) c.1333T>G (p.Phe445Val) c.5227T>G (p.Phe1743Val) c.5326-2418T>G (n.5326-2418T>G) | |
| X | g.32348498A>G | CA412668035 | DMD | c.202T>C (p.Phe68Leu) c.5356T>C (p.Phe1786Leu) c.1324T>C (p.Phe442Leu) c.5344T>C (p.Phe1782Leu) n.336-131435T>C c.13T>C (p.Phe5Leu) c.5332T>C (p.Phe1778Leu) c.4987T>C (p.Phe1663Leu) c.1333T>C (p.Phe445Leu) c.5227T>C (p.Phe1743Leu) c.5326-2418T>C (n.5326-2418T>C) | |
| X | g.32348498A>T | CA412668037 | DMD | c.202T>A (p.Phe68Ile) c.5356T>A (p.Phe1786Ile) c.1324T>A (p.Phe442Ile) c.5344T>A (p.Phe1782Ile) n.336-131435T>A c.13T>A (p.Phe5Ile) c.5332T>A (p.Phe1778Ile) c.4987T>A (p.Phe1663Ile) c.1333T>A (p.Phe445Ile) c.5227T>A (p.Phe1743Ile) c.5326-2418T>A (n.5326-2418T>A) | |
| X | g.32348499C>A | CA412668041 | DMD | c.201G>T (p.Gln67His) c.5355G>T (p.Gln1785His) c.1323G>T (p.Gln441His) c.5343G>T (p.Gln1781His) n.336-131436G>T c.12G>T (p.Gln4His) c.5331G>T (p.Gln1777His) c.4986G>T (p.Gln1662His) c.1332G>T (p.Gln444His) c.5226G>T (p.Gln1742His) c.5326-2419G>T (n.5326-2419G>T) | ClinVar dbSNP |
| X | g.32348499C>G | CA412668043 | DMD | c.201G>C (p.Gln67His) c.5355G>C (p.Gln1785His) c.1323G>C (p.Gln441His) c.5343G>C (p.Gln1781His) n.336-131436G>C c.12G>C (p.Gln4His) c.5331G>C (p.Gln1777His) c.4986G>C (p.Gln1662His) c.1332G>C (p.Gln444His) c.5226G>C (p.Gln1742His) c.5326-2419G>C (n.5326-2419G>C) | |
| X | g.32348499C>T | CA515714533 | DMD | c.201G>A (p.Gln67=) c.5355G>A (p.Gln1785=) c.1323G>A (p.Gln441=) c.5343G>A (p.Gln1781=) n.336-131436G>A c.12G>A (p.Gln4=) c.5331G>A (p.Gln1777=) c.4986G>A (p.Gln1662=) c.1332G>A (p.Gln444=) c.5226G>A (p.Gln1742=) c.5326-2419G>A (n.5326-2419G>A) | ClinVar gnomAD v4 |
| X | g.32348500T>A | CA412668045 | DMD | c.200A>T (p.Gln67Leu) c.5354A>T (p.Gln1785Leu) c.1322A>T (p.Gln441Leu) c.5342A>T (p.Gln1781Leu) n.336-131437A>T c.11A>T (p.Gln4Leu) c.5330A>T (p.Gln1777Leu) c.4985A>T (p.Gln1662Leu) c.1331A>T (p.Gln444Leu) c.5225A>T (p.Gln1742Leu) c.5326-2420A>T (n.5326-2420A>T) | |
| X | g.32348500T>C | CA412668046 | DMD | c.200A>G (p.Gln67Arg) c.5354A>G (p.Gln1785Arg) c.1322A>G (p.Gln441Arg) c.5342A>G (p.Gln1781Arg) n.336-131437A>G c.11A>G (p.Gln4Arg) c.5330A>G (p.Gln1777Arg) c.4985A>G (p.Gln1662Arg) c.1331A>G (p.Gln444Arg) c.5225A>G (p.Gln1742Arg) c.5326-2420A>G (n.5326-2420A>G) | |
| X | g.32348500T>G | CA412668048 | DMD | c.200A>C (p.Gln67Pro) c.5354A>C (p.Gln1785Pro) c.1322A>C (p.Gln441Pro) c.5342A>C (p.Gln1781Pro) n.336-131437A>C c.11A>C (p.Gln4Pro) c.5330A>C (p.Gln1777Pro) c.4985A>C (p.Gln1662Pro) c.1331A>C (p.Gln444Pro) c.5225A>C (p.Gln1742Pro) c.5326-2420A>C (n.5326-2420A>C) | |
| X | g.32348501G>A | CA267061 | DMD | c.199C>T (p.Gln67Ter) c.5353C>T (p.Gln1785Ter) c.1321C>T (p.Gln441Ter) c.5341C>T (p.Gln1781Ter) n.336-131438C>T c.10C>T (p.Gln4Ter) c.5329C>T (p.Gln1777Ter) c.4984C>T (p.Gln1662Ter) c.1330C>T (p.Gln444Ter) c.5224C>T (p.Gln1742Ter) c.5326-2421C>T (n.5326-2421C>T) | ClinVar dbSNP |
| X | g.32348501G>C | CA412668053 | DMD | c.199C>G (p.Gln67Glu) c.5353C>G (p.Gln1785Glu) c.1321C>G (p.Gln441Glu) c.5341C>G (p.Gln1781Glu) n.336-131438C>G c.10C>G (p.Gln4Glu) c.5329C>G (p.Gln1777Glu) c.4984C>G (p.Gln1662Glu) c.1330C>G (p.Gln444Glu) c.5224C>G (p.Gln1742Glu) c.5326-2421C>G (n.5326-2421C>G) | |
| X | g.32348501G= | CA2422762995 | DMD | c.199C= (p.Gln67=) c.5353C= (p.Gln1785=) c.1321C= (p.Gln441=) c.5341C= (p.Gln1781=) n.336-131438C= c.10C= (p.Gln4=) c.5329C= (p.Gln1777=) c.4984C= (p.Gln1662=) c.1330C= (p.Gln444=) c.5224C= (p.Gln1742=) c.5326-2421C= (n.5326-2421C=) | |
| X | g.32348501G>T | CA412668051 | DMD | c.199C>A (p.Gln67Lys) c.5353C>A (p.Gln1785Lys) c.1321C>A (p.Gln441Lys) c.5341C>A (p.Gln1781Lys) n.336-131438C>A c.10C>A (p.Gln4Lys) c.5329C>A (p.Gln1777Lys) c.4984C>A (p.Gln1662Lys) c.1330C>A (p.Gln444Lys) c.5224C>A (p.Gln1742Lys) c.5326-2421C>A (n.5326-2421C>A) | COSMIC COSMIC COSMIC COSMIC |
| X | g.32348502C>A | CA412668055 | DMD | c.198G>T (p.Glu66Asp) c.5352G>T (p.Glu1784Asp) c.1320G>T (p.Glu440Asp) c.5340G>T (p.Glu1780Asp) n.336-131439G>T c.9G>T (p.Glu3Asp) c.5328G>T (p.Glu1776Asp) c.4983G>T (p.Glu1661Asp) c.1329G>T (p.Glu443Asp) c.5223G>T (p.Glu1741Asp) c.5326-2422G>T (n.5326-2422G>T) | |
| X | g.32348502C>G | CA412668057 | DMD | c.198G>C (p.Glu66Asp) c.5352G>C (p.Glu1784Asp) c.1320G>C (p.Glu440Asp) c.5340G>C (p.Glu1780Asp) n.336-131439G>C c.9G>C (p.Glu3Asp) c.5328G>C (p.Glu1776Asp) c.4983G>C (p.Glu1661Asp) c.1329G>C (p.Glu443Asp) c.5223G>C (p.Glu1741Asp) c.5326-2422G>C (n.5326-2422G>C) | |
| X | g.32348502C>T | CA515714536 | DMD | c.198G>A (p.Glu66=) c.5352G>A (p.Glu1784=) c.1320G>A (p.Glu440=) c.5340G>A (p.Glu1780=) n.336-131439G>A c.9G>A (p.Glu3=) c.5328G>A (p.Glu1776=) c.4983G>A (p.Glu1661=) c.1329G>A (p.Glu443=) c.5223G>A (p.Glu1741=) c.5326-2422G>A (n.5326-2422G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32348503T>A | CA412668059 | DMD | c.197A>T (p.Glu66Val) c.5351A>T (p.Glu1784Val) c.1319A>T (p.Glu440Val) c.5339A>T (p.Glu1780Val) n.336-131440A>T c.8A>T (p.Glu3Val) c.5327A>T (p.Glu1776Val) c.4982A>T (p.Glu1661Val) c.1328A>T (p.Glu443Val) c.5222A>T (p.Glu1741Val) c.5326-2423A>T (n.5326-2423A>T) | ClinVar dbSNP |
| X | g.32348503T>C | CA412668061 | DMD | c.197A>G (p.Glu66Gly) c.5351A>G (p.Glu1784Gly) c.1319A>G (p.Glu440Gly) c.5339A>G (p.Glu1780Gly) n.336-131440A>G c.8A>G (p.Glu3Gly) c.5327A>G (p.Glu1776Gly) c.4982A>G (p.Glu1661Gly) c.1328A>G (p.Glu443Gly) c.5222A>G (p.Glu1741Gly) c.5326-2423A>G (n.5326-2423A>G) | gnomAD v4 |
| X | g.32348503T>G | CA412668063 | DMD | c.197A>C (p.Glu66Ala) c.5351A>C (p.Glu1784Ala) c.1319A>C (p.Glu440Ala) c.5339A>C (p.Glu1780Ala) n.336-131440A>C c.8A>C (p.Glu3Ala) c.5327A>C (p.Glu1776Ala) c.4982A>C (p.Glu1661Ala) c.1328A>C (p.Glu443Ala) c.5222A>C (p.Glu1741Ala) c.5326-2423A>C (n.5326-2423A>C) | |
| X | g.32348504C>A | CA347488 | DMD | c.196G>T (p.Glu66Ter) c.5350G>T (p.Glu1784Ter) c.1318G>T (p.Glu440Ter) c.5338G>T (p.Glu1780Ter) n.336-131441G>T c.7G>T (p.Glu3Ter) c.5326G>T (p.Glu1776Ter) c.4981G>T (p.Glu1661Ter) c.1327G>T (p.Glu443Ter) c.5221G>T (p.Glu1741Ter) c.5326-2424G>T (n.5326-2424G>T) | ClinVar dbSNP |
| X | g.32348504C= | CA2422762996 | DMD | c.196G= (p.Glu66=) c.5350G= (p.Glu1784=) c.1318G= (p.Glu440=) c.5338G= (p.Glu1780=) n.336-131441G= c.7G= (p.Glu3=) c.5326G= (p.Glu1776=) c.4981G= (p.Glu1661=) c.1327G= (p.Glu443=) c.5221G= (p.Glu1741=) c.5326-2424G= (n.5326-2424G=) | |
| X | g.32348504C>G | CA412668066 | DMD | c.196G>C (p.Glu66Gln) c.5350G>C (p.Glu1784Gln) c.1318G>C (p.Glu440Gln) c.5338G>C (p.Glu1780Gln) n.336-131441G>C c.7G>C (p.Glu3Gln) c.5326G>C (p.Glu1776Gln) c.4981G>C (p.Glu1661Gln) c.1327G>C (p.Glu443Gln) c.5221G>C (p.Glu1741Gln) c.5326-2424G>C (n.5326-2424G>C) | dbSNP gnomAD v4 |