Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32365018_32365042del | CA2580100677 | DMD | c.5008_5025+7del c.976_993+7del c.4996_5013+7del c.256_273+7del c.94-327_94-303del (n.94-327_94-303del) n.336-147974_336-147950del c.4984_5001+7del c.4639_4656+7del c.985_1002+7del c.4879_4896+7del | ClinVar |
X | g.32365027dup | CA645619989 | DMD | c.5021dup (p.Leu1674PhefsTer12) c.989dup (p.Leu330PhefsTer12) c.5009dup (p.Leu1670PhefsTer12) c.269dup (p.Leu90PhefsTer12) c.94-314dup (n.94-314dup) n.336-147961dup c.4997dup (p.Leu1666PhefsTer12) c.4652dup (p.Leu1551PhefsTer12) c.998dup (p.Leu333PhefsTer12) c.4892dup (p.Leu1631PhefsTer12) | COSMIC COSMIC |
X | g.32365027del | CA2580100682 | DMD | c.5021del (p.Leu1674CysfsTer?) c.989del (p.Leu330CysfsTer?) c.5009del (p.Leu1670CysfsTer?) c.269del (p.Leu90CysfsTer?) c.94-314del (n.94-314del) n.336-147961del c.4997del (p.Leu1666CysfsTer?) c.4652del (p.Leu1551CysfsTer?) c.998del (p.Leu333CysfsTer?) c.4892del (p.Leu1631CysfsTer?) | ClinVar |
X | g.32365025A>C | CA412671753 | DMD | c.5020T>G (p.Leu1674Val) c.988T>G (p.Leu330Val) c.5008T>G (p.Leu1670Val) c.268T>G (p.Leu90Val) c.94-315T>G (n.94-315T>G) n.336-147962T>G c.4996T>G (p.Leu1666Val) c.4651T>G (p.Leu1551Val) c.997T>G (p.Leu333Val) c.4891T>G (p.Leu1631Val) | |
X | g.32365025A>G | CA515714742 | DMD | c.5020T>C (p.Leu1674=) c.988T>C (p.Leu330=) c.5008T>C (p.Leu1670=) c.268T>C (p.Leu90=) c.94-315T>C (n.94-315T>C) n.336-147962T>C c.4996T>C (p.Leu1666=) c.4651T>C (p.Leu1551=) c.997T>C (p.Leu333=) c.4891T>C (p.Leu1631=) | |
X | g.32365025A>T | CA412671754 | DMD | c.5020T>A (p.Leu1674Met) c.988T>A (p.Leu330Met) c.5008T>A (p.Leu1670Met) c.268T>A (p.Leu90Met) c.94-315T>A (n.94-315T>A) n.336-147962T>A c.4996T>A (p.Leu1666Met) c.4651T>A (p.Leu1551Met) c.997T>A (p.Leu333Met) c.4891T>A (p.Leu1631Met) | COSMIC COSMIC COSMIC COSMIC |
X | g.32365025_32365026insT | CA515714743 | DMD | c.5019_5020insA (p.Leu1674IlefsTer12) c.987_988insA (p.Leu330IlefsTer12) c.5007_5008insA (p.Leu1670IlefsTer12) c.267_268insA (p.Leu90IlefsTer12) c.94-316_94-315insA (n.94-316_94-315insA) n.336-147963_336-147962insA c.4995_4996insA (p.Leu1666IlefsTer12) c.4650_4651insA (p.Leu1551IlefsTer12) c.996_997insA (p.Leu333IlefsTer12) c.4890_4891insA (p.Leu1631IlefsTer12) | |
X | g.32365026A>C | CA515714745 | DMD | c.5019T>G (p.Leu1673=) c.987T>G (p.Leu329=) c.5007T>G (p.Leu1669=) c.267T>G (p.Leu89=) c.94-316T>G (n.94-316T>G) n.336-147963T>G c.4995T>G (p.Leu1665=) c.4650T>G (p.Leu1550=) c.996T>G (p.Leu332=) c.4890T>G (p.Leu1630=) | |
X | g.32365026A>G | CA515714746 | DMD | c.5019T>C (p.Leu1673=) c.987T>C (p.Leu329=) c.5007T>C (p.Leu1669=) c.267T>C (p.Leu89=) c.94-316T>C (n.94-316T>C) n.336-147963T>C c.4995T>C (p.Leu1665=) c.4650T>C (p.Leu1550=) c.996T>C (p.Leu332=) c.4890T>C (p.Leu1630=) | |
X | g.32365026A>T | CA515714744 | DMD | c.5019T>A (p.Leu1673=) c.987T>A (p.Leu329=) c.5007T>A (p.Leu1669=) c.267T>A (p.Leu89=) c.94-316T>A (n.94-316T>A) n.336-147963T>A c.4995T>A (p.Leu1665=) c.4650T>A (p.Leu1550=) c.996T>A (p.Leu332=) c.4890T>A (p.Leu1630=) | |
X | g.32365027A>C | CA412671755 | DMD | c.5018T>G (p.Leu1673Arg) c.986T>G (p.Leu329Arg) c.5006T>G (p.Leu1669Arg) c.266T>G (p.Leu89Arg) c.94-317T>G (n.94-317T>G) n.336-147964T>G c.4994T>G (p.Leu1665Arg) c.4649T>G (p.Leu1550Arg) c.995T>G (p.Leu332Arg) c.4889T>G (p.Leu1630Arg) | |
X | g.32365027A>G | CA412671756 | DMD | c.5018T>C (p.Leu1673Pro) c.986T>C (p.Leu329Pro) c.5006T>C (p.Leu1669Pro) c.266T>C (p.Leu89Pro) c.94-317T>C (n.94-317T>C) n.336-147964T>C c.4994T>C (p.Leu1665Pro) c.4649T>C (p.Leu1550Pro) c.995T>C (p.Leu332Pro) c.4889T>C (p.Leu1630Pro) | |
X | g.32365027A>T | CA412671757 | DMD | c.5018T>A (p.Leu1673His) c.986T>A (p.Leu329His) c.5006T>A (p.Leu1669His) c.266T>A (p.Leu89His) c.94-317T>A (n.94-317T>A) n.336-147964T>A c.4994T>A (p.Leu1665His) c.4649T>A (p.Leu1550His) c.995T>A (p.Leu332His) c.4889T>A (p.Leu1630His) | |
X | g.32365028del | CA2695234102 | DMD | c.5017del (p.Leu1673PhefsTer?) c.985del (p.Leu329PhefsTer?) c.5005del (p.Leu1669PhefsTer?) c.265del (p.Leu89PhefsTer?) c.94-318del (n.94-318del) n.336-147965del c.4993del (p.Leu1665PhefsTer?) c.4648del (p.Leu1550PhefsTer?) c.994del (p.Leu332PhefsTer?) c.4888del (p.Leu1630PhefsTer?) | |
X | g.32365028G>A | CA412671758 | DMD | c.5017C>T (p.Leu1673Phe) c.985C>T (p.Leu329Phe) c.5005C>T (p.Leu1669Phe) c.265C>T (p.Leu89Phe) c.94-318C>T (n.94-318C>T) n.336-147965C>T c.4993C>T (p.Leu1665Phe) c.4648C>T (p.Leu1550Phe) c.994C>T (p.Leu332Phe) c.4888C>T (p.Leu1630Phe) | |
X | g.32365028G>C | CA412671759 | DMD | c.5017C>G (p.Leu1673Val) c.985C>G (p.Leu329Val) c.5005C>G (p.Leu1669Val) c.265C>G (p.Leu89Val) c.94-318C>G (n.94-318C>G) n.336-147965C>G c.4993C>G (p.Leu1665Val) c.4648C>G (p.Leu1550Val) c.994C>G (p.Leu332Val) c.4888C>G (p.Leu1630Val) | COSMIC COSMIC COSMIC COSMIC |
X | g.32365028G>T | CA412671760 | DMD | c.5017C>A (p.Leu1673Ile) c.985C>A (p.Leu329Ile) c.5005C>A (p.Leu1669Ile) c.265C>A (p.Leu89Ile) c.94-318C>A (n.94-318C>A) n.336-147965C>A c.4993C>A (p.Leu1665Ile) c.4648C>A (p.Leu1550Ile) c.994C>A (p.Leu332Ile) c.4888C>A (p.Leu1630Ile) | |
X | g.32365029A= | CA2422770092 | DMD | c.5016T= (p.Asn1672=) c.984T= (p.Asn328=) c.5004T= (p.Asn1668=) c.264T= (p.Asn88=) c.94-319T= (n.94-319T=) n.336-147966T= c.4992T= (p.Asn1664=) c.4647T= (p.Asn1549=) c.993T= (p.Asn331=) c.4887T= (p.Asn1629=) | |
X | g.32365029A>C | CA412671761 | DMD | c.5016T>G (p.Asn1672Lys) c.984T>G (p.Asn328Lys) c.5004T>G (p.Asn1668Lys) c.264T>G (p.Asn88Lys) c.94-319T>G (n.94-319T>G) n.336-147966T>G c.4992T>G (p.Asn1664Lys) c.4647T>G (p.Asn1549Lys) c.993T>G (p.Asn331Lys) c.4887T>G (p.Asn1629Lys) | |
X | g.32365029A>G | CA515714747 | DMD | c.5016T>C (p.Asn1672=) c.984T>C (p.Asn328=) c.5004T>C (p.Asn1668=) c.264T>C (p.Asn88=) c.94-319T>C (n.94-319T>C) n.336-147966T>C c.4992T>C (p.Asn1664=) c.4647T>C (p.Asn1549=) c.993T>C (p.Asn331=) c.4887T>C (p.Asn1629=) | gnomAD v4 |
X | g.32365029A>T | CA285574 | DMD | c.5016T>A (p.Asn1672Lys) c.984T>A (p.Asn328Lys) c.5004T>A (p.Asn1668Lys) c.264T>A (p.Asn88Lys) c.94-319T>A (n.94-319T>A) n.336-147966T>A c.4992T>A (p.Asn1664Lys) c.4647T>A (p.Asn1549Lys) c.993T>A (p.Asn331Lys) c.4887T>A (p.Asn1629Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365030T>A | CA412671762 | DMD | c.5015A>T (p.Asn1672Ile) c.983A>T (p.Asn328Ile) c.5003A>T (p.Asn1668Ile) c.263A>T (p.Asn88Ile) c.94-320A>T (n.94-320A>T) n.336-147967A>T c.4991A>T (p.Asn1664Ile) c.4646A>T (p.Asn1549Ile) c.992A>T (p.Asn331Ile) c.4886A>T (p.Asn1629Ile) | |
X | g.32365030T>C | CA412671763 | DMD | c.5015A>G (p.Asn1672Ser) c.983A>G (p.Asn328Ser) c.5003A>G (p.Asn1668Ser) c.263A>G (p.Asn88Ser) c.94-320A>G (n.94-320A>G) n.336-147967A>G c.4991A>G (p.Asn1664Ser) c.4646A>G (p.Asn1549Ser) c.992A>G (p.Asn331Ser) c.4886A>G (p.Asn1629Ser) | |
X | g.32365030T>G | CA412671764 | DMD | c.5015A>C (p.Asn1672Thr) c.983A>C (p.Asn328Thr) c.5003A>C (p.Asn1668Thr) c.263A>C (p.Asn88Thr) c.94-320A>C (n.94-320A>C) n.336-147967A>C c.4991A>C (p.Asn1664Thr) c.4646A>C (p.Asn1549Thr) c.992A>C (p.Asn331Thr) c.4886A>C (p.Asn1629Thr) | ClinVar |
X | g.32365032del | CA2695234103 | DMD | c.5015del (p.Asn1672IlefsTer?) c.983del (p.Asn328IlefsTer?) c.5003del (p.Asn1668IlefsTer?) c.263del (p.Asn88IlefsTer?) c.94-320del (n.94-320del) n.336-147967del c.4991del (p.Asn1664IlefsTer?) c.4646del (p.Asn1549IlefsTer?) c.992del (p.Asn331IlefsTer?) c.4886del (p.Asn1629IlefsTer?) | |
X | g.32365031T>A | CA412671765 | DMD | c.5014A>T (p.Asn1672Tyr) c.982A>T (p.Asn328Tyr) c.5002A>T (p.Asn1668Tyr) c.262A>T (p.Asn88Tyr) c.94-321A>T (n.94-321A>T) n.336-147968A>T c.4990A>T (p.Asn1664Tyr) c.4645A>T (p.Asn1549Tyr) c.991A>T (p.Asn331Tyr) c.4885A>T (p.Asn1629Tyr) | dbSNP |
X | g.32365031T>C | CA412671767 | DMD | c.5014A>G (p.Asn1672Asp) c.982A>G (p.Asn328Asp) c.5002A>G (p.Asn1668Asp) c.262A>G (p.Asn88Asp) c.94-321A>G (n.94-321A>G) n.336-147968A>G c.4990A>G (p.Asn1664Asp) c.4645A>G (p.Asn1549Asp) c.991A>G (p.Asn331Asp) c.4885A>G (p.Asn1629Asp) | |
X | g.32365031T>G | CA412671766 | DMD | c.5014A>C (p.Asn1672His) c.982A>C (p.Asn328His) c.5002A>C (p.Asn1668His) c.262A>C (p.Asn88His) c.94-321A>C (n.94-321A>C) n.336-147968A>C c.4990A>C (p.Asn1664His) c.4645A>C (p.Asn1549His) c.991A>C (p.Asn331His) c.4885A>C (p.Asn1629His) | |
X | g.32365031T= | CA2422770093 | DMD | c.5014A= (p.Asn1672=) c.982A= (p.Asn328=) c.5002A= (p.Asn1668=) c.262A= (p.Asn88=) c.94-321A= (n.94-321A=) n.336-147968A= c.4990A= (p.Asn1664=) c.4645A= (p.Asn1549=) c.991A= (p.Asn331=) c.4885A= (p.Asn1629=) | |
X | g.32365032T>A | CA412671768 | DMD | c.5013A>T (p.Leu1671Phe) c.981A>T (p.Leu327Phe) c.5001A>T (p.Leu1667Phe) c.261A>T (p.Leu87Phe) c.94-322A>T (n.94-322A>T) n.336-147969A>T c.4989A>T (p.Leu1663Phe) c.4644A>T (p.Leu1548Phe) c.990A>T (p.Leu330Phe) c.4884A>T (p.Leu1628Phe) | dbSNP |
X | g.32365032T>C | CA10378808 | DMD | c.5013A>G (p.Leu1671=) c.981A>G (p.Leu327=) c.5001A>G (p.Leu1667=) c.261A>G (p.Leu87=) c.94-322A>G (n.94-322A>G) n.336-147969A>G c.4989A>G (p.Leu1663=) c.4644A>G (p.Leu1548=) c.990A>G (p.Leu330=) c.4884A>G (p.Leu1628=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32365032T>G | CA412671769 | DMD | c.5013A>C (p.Leu1671Phe) c.981A>C (p.Leu327Phe) c.5001A>C (p.Leu1667Phe) c.261A>C (p.Leu87Phe) c.94-322A>C (n.94-322A>C) n.336-147969A>C c.4989A>C (p.Leu1663Phe) c.4644A>C (p.Leu1548Phe) c.990A>C (p.Leu330Phe) c.4884A>C (p.Leu1628Phe) | |
X | g.32365032T= | CA2422770094 | DMD | c.5013A= (p.Leu1671=) c.981A= (p.Leu327=) c.5001A= (p.Leu1667=) c.261A= (p.Leu87=) c.94-322A= (n.94-322A=) n.336-147969A= c.4989A= (p.Leu1663=) c.4644A= (p.Leu1548=) c.990A= (p.Leu330=) c.4884A= (p.Leu1628=) | |
X | g.32365033A= | CA2422770095 | DMD | c.5012T= (p.Leu1671=) c.980T= (p.Leu327=) c.5000T= (p.Leu1667=) c.260T= (p.Leu87=) c.94-323T= (n.94-323T=) n.336-147970T= c.4988T= (p.Leu1663=) c.4643T= (p.Leu1548=) c.989T= (p.Leu330=) c.4883T= (p.Leu1628=) | |
X | g.32365033A>C | CA412671771 | DMD | c.5012T>G (p.Leu1671Ter) c.980T>G (p.Leu327Ter) c.5000T>G (p.Leu1667Ter) c.260T>G (p.Leu87Ter) c.94-323T>G (n.94-323T>G) n.336-147970T>G c.4988T>G (p.Leu1663Ter) c.4643T>G (p.Leu1548Ter) c.989T>G (p.Leu330Ter) c.4883T>G (p.Leu1628Ter) | ClinVar |
X | g.32365033A>G | CA412671773 | DMD | c.5012T>C (p.Leu1671Ser) c.980T>C (p.Leu327Ser) c.5000T>C (p.Leu1667Ser) c.260T>C (p.Leu87Ser) c.94-323T>C (n.94-323T>C) n.336-147970T>C c.4988T>C (p.Leu1663Ser) c.4643T>C (p.Leu1548Ser) c.989T>C (p.Leu330Ser) c.4883T>C (p.Leu1628Ser) | |
X | g.32365033A>T | CA412671775 | DMD | c.5012T>A (p.Leu1671Ter) c.980T>A (p.Leu327Ter) c.5000T>A (p.Leu1667Ter) c.260T>A (p.Leu87Ter) c.94-323T>A (n.94-323T>A) n.336-147970T>A c.4988T>A (p.Leu1663Ter) c.4643T>A (p.Leu1548Ter) c.989T>A (p.Leu330Ter) c.4883T>A (p.Leu1628Ter) | ClinVar dbSNP |
X | g.32365034A>C | CA412671776 | DMD | c.5011T>G (p.Leu1671Val) c.979T>G (p.Leu327Val) c.4999T>G (p.Leu1667Val) c.259T>G (p.Leu87Val) c.94-324T>G (n.94-324T>G) n.336-147971T>G c.4987T>G (p.Leu1663Val) c.4642T>G (p.Leu1548Val) c.988T>G (p.Leu330Val) c.4882T>G (p.Leu1628Val) | |
X | g.32365034A>G | CA515714748 | DMD | c.5011T>C (p.Leu1671=) c.979T>C (p.Leu327=) c.4999T>C (p.Leu1667=) c.259T>C (p.Leu87=) c.94-324T>C (n.94-324T>C) n.336-147971T>C c.4987T>C (p.Leu1663=) c.4642T>C (p.Leu1548=) c.988T>C (p.Leu330=) c.4882T>C (p.Leu1628=) | |
X | g.32365034A>T | CA412671778 | DMD | c.5011T>A (p.Leu1671Ile) c.979T>A (p.Leu327Ile) c.4999T>A (p.Leu1667Ile) c.259T>A (p.Leu87Ile) c.94-324T>A (n.94-324T>A) n.336-147971T>A c.4987T>A (p.Leu1663Ile) c.4642T>A (p.Leu1548Ile) c.988T>A (p.Leu330Ile) c.4882T>A (p.Leu1628Ile) | |
X | g.32365035C>A | CA295588 | DMD | c.5010G>T (p.Trp1670Cys) c.978G>T (p.Trp326Cys) c.4998G>T (p.Trp1666Cys) c.258G>T (p.Trp86Cys) c.94-325G>T (n.94-325G>T) n.336-147972G>T c.4986G>T (p.Trp1662Cys) c.4641G>T (p.Trp1547Cys) c.987G>T (p.Trp329Cys) c.4881G>T (p.Trp1627Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365035C= | CA2422770096 | DMD | c.5010G= (p.Trp1670=) c.978G= (p.Trp326=) c.4998G= (p.Trp1666=) c.258G= (p.Trp86=) c.94-325G= (n.94-325G=) n.336-147972G= c.4986G= (p.Trp1662=) c.4641G= (p.Trp1547=) c.987G= (p.Trp329=) c.4881G= (p.Trp1627=) | |
X | g.32365035C>G | CA412671780 | DMD | c.5010G>C (p.Trp1670Cys) c.978G>C (p.Trp326Cys) c.4998G>C (p.Trp1666Cys) c.258G>C (p.Trp86Cys) c.94-325G>C (n.94-325G>C) n.336-147972G>C c.4986G>C (p.Trp1662Cys) c.4641G>C (p.Trp1547Cys) c.987G>C (p.Trp329Cys) c.4881G>C (p.Trp1627Cys) | |
X | g.32365035C>T | CA412671782 | DMD | c.5010G>A (p.Trp1670Ter) c.978G>A (p.Trp326Ter) c.4998G>A (p.Trp1666Ter) c.258G>A (p.Trp86Ter) c.94-325G>A (n.94-325G>A) n.336-147972G>A c.4986G>A (p.Trp1662Ter) c.4641G>A (p.Trp1547Ter) c.987G>A (p.Trp329Ter) c.4881G>A (p.Trp1627Ter) | |
X | g.32365036C>A | CA412671786 | DMD | c.5009G>T (p.Trp1670Leu) c.977G>T (p.Trp326Leu) c.4997G>T (p.Trp1666Leu) c.257G>T (p.Trp86Leu) c.94-326G>T (n.94-326G>T) n.336-147973G>T c.4985G>T (p.Trp1662Leu) c.4640G>T (p.Trp1547Leu) c.986G>T (p.Trp329Leu) c.4880G>T (p.Trp1627Leu) | gnomAD v4 |
X | g.32365036C>G | CA412671788 | DMD | c.5009G>C (p.Trp1670Ser) c.977G>C (p.Trp326Ser) c.4997G>C (p.Trp1666Ser) c.257G>C (p.Trp86Ser) c.94-326G>C (n.94-326G>C) n.336-147973G>C c.4985G>C (p.Trp1662Ser) c.4640G>C (p.Trp1547Ser) c.986G>C (p.Trp329Ser) c.4880G>C (p.Trp1627Ser) | ClinVar gnomAD v4 |
X | g.32365036C>T | CA412671784 | DMD | c.5009G>A (p.Trp1670Ter) c.977G>A (p.Trp326Ter) c.4997G>A (p.Trp1666Ter) c.257G>A (p.Trp86Ter) c.94-326G>A (n.94-326G>A) n.336-147973G>A c.4985G>A (p.Trp1662Ter) c.4640G>A (p.Trp1547Ter) c.986G>A (p.Trp329Ter) c.4880G>A (p.Trp1627Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
X | g.32365037A= | CA2422770097 | DMD | c.5008T= (p.Trp1670=) c.976T= (p.Trp326=) c.4996T= (p.Trp1666=) c.256T= (p.Trp86=) c.94-327T= (n.94-327T=) n.336-147974T= c.4984T= (p.Trp1662=) c.4639T= (p.Trp1547=) c.985T= (p.Trp329=) c.4879T= (p.Trp1627=) | |
X | g.32365037A>C | CA327995592 | DMD | c.5008T>G (p.Trp1670Gly) c.976T>G (p.Trp326Gly) c.4996T>G (p.Trp1666Gly) c.256T>G (p.Trp86Gly) c.94-327T>G (n.94-327T>G) n.336-147974T>G c.4984T>G (p.Trp1662Gly) c.4639T>G (p.Trp1547Gly) c.985T>G (p.Trp329Gly) c.4879T>G (p.Trp1627Gly) | ClinVar dbSNP |
X | g.32365037A>G | CA412671790 | DMD | c.5008T>C (p.Trp1670Arg) c.976T>C (p.Trp326Arg) c.4996T>C (p.Trp1666Arg) c.256T>C (p.Trp86Arg) c.94-327T>C (n.94-327T>C) n.336-147974T>C c.4984T>C (p.Trp1662Arg) c.4639T>C (p.Trp1547Arg) c.985T>C (p.Trp329Arg) c.4879T>C (p.Trp1627Arg) | |
X | g.32365037A>T | CA412671792 | DMD | c.5008T>A (p.Trp1670Arg) c.976T>A (p.Trp326Arg) c.4996T>A (p.Trp1666Arg) c.256T>A (p.Trp86Arg) c.94-327T>A (n.94-327T>A) n.336-147974T>A c.4984T>A (p.Trp1662Arg) c.4639T>A (p.Trp1547Arg) c.985T>A (p.Trp329Arg) c.4879T>A (p.Trp1627Arg) | |
X | g.32365038C>A | CA412671794 | DMD | c.5007G>T (p.Glu1669Asp) c.975G>T (p.Glu325Asp) c.4995G>T (p.Glu1665Asp) c.255G>T (p.Glu85Asp) c.94-328G>T (n.94-328G>T) n.336-147975G>T c.4983G>T (p.Glu1661Asp) c.4638G>T (p.Glu1546Asp) c.984G>T (p.Glu328Asp) c.4878G>T (p.Glu1626Asp) | |
X | g.32365038C= | CA2422770098 | DMD | c.5007G= (p.Glu1669=) c.975G= (p.Glu325=) c.4995G= (p.Glu1665=) c.255G= (p.Glu85=) c.94-328G= (n.94-328G=) n.336-147975G= c.4983G= (p.Glu1661=) c.4638G= (p.Glu1546=) c.984G= (p.Glu328=) c.4878G= (p.Glu1626=) | |
X | g.32365038C>G | CA10378809 | DMD | c.5007G>C (p.Glu1669Asp) c.975G>C (p.Glu325Asp) c.4995G>C (p.Glu1665Asp) c.255G>C (p.Glu85Asp) c.94-328G>C (n.94-328G>C) n.336-147975G>C c.4983G>C (p.Glu1661Asp) c.4638G>C (p.Glu1546Asp) c.984G>C (p.Glu328Asp) c.4878G>C (p.Glu1626Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365038C>T | CA515714749 | DMD | c.5007G>A (p.Glu1669=) c.975G>A (p.Glu325=) c.4995G>A (p.Glu1665=) c.255G>A (p.Glu85=) c.94-328G>A (n.94-328G>A) n.336-147975G>A c.4983G>A (p.Glu1661=) c.4638G>A (p.Glu1546=) c.984G>A (p.Glu328=) c.4878G>A (p.Glu1626=) | |
X | g.32365039T>A | CA412671797 | DMD | c.5006A>T (p.Glu1669Val) c.974A>T (p.Glu325Val) c.4994A>T (p.Glu1665Val) c.254A>T (p.Glu85Val) c.94-329A>T (n.94-329A>T) n.336-147976A>T c.4982A>T (p.Glu1661Val) c.4637A>T (p.Glu1546Val) c.983A>T (p.Glu328Val) c.4877A>T (p.Glu1626Val) | |
X | g.32365039T>C | CA412671798 | DMD | c.5006A>G (p.Glu1669Gly) c.974A>G (p.Glu325Gly) c.4994A>G (p.Glu1665Gly) c.254A>G (p.Glu85Gly) c.94-329A>G (n.94-329A>G) n.336-147976A>G c.4982A>G (p.Glu1661Gly) c.4637A>G (p.Glu1546Gly) c.983A>G (p.Glu328Gly) c.4877A>G (p.Glu1626Gly) | |
X | g.32365039T>G | CA412671800 | DMD | c.5006A>C (p.Glu1669Ala) c.974A>C (p.Glu325Ala) c.4994A>C (p.Glu1665Ala) c.254A>C (p.Glu85Ala) c.94-329A>C (n.94-329A>C) n.336-147976A>C c.4982A>C (p.Glu1661Ala) c.4637A>C (p.Glu1546Ala) c.983A>C (p.Glu328Ala) c.4877A>C (p.Glu1626Ala) | |
X | g.32365040C>A | CA412671803 | DMD | c.5005G>T (p.Glu1669Ter) c.973G>T (p.Glu325Ter) c.4993G>T (p.Glu1665Ter) c.253G>T (p.Glu85Ter) c.94-330G>T (n.94-330G>T) n.336-147977G>T c.4981G>T (p.Glu1661Ter) c.4636G>T (p.Glu1546Ter) c.982G>T (p.Glu328Ter) c.4876G>T (p.Glu1626Ter) | |
X | g.32365040C>G | CA412671804 | DMD | c.5005G>C (p.Glu1669Gln) c.973G>C (p.Glu325Gln) c.4993G>C (p.Glu1665Gln) c.253G>C (p.Glu85Gln) c.94-330G>C (n.94-330G>C) n.336-147977G>C c.4981G>C (p.Glu1661Gln) c.4636G>C (p.Glu1546Gln) c.982G>C (p.Glu328Gln) c.4876G>C (p.Glu1626Gln) | gnomAD v4 |
X | g.32365040C>T | CA412671806 | DMD | c.5005G>A (p.Glu1669Lys) c.973G>A (p.Glu325Lys) c.4993G>A (p.Glu1665Lys) c.253G>A (p.Glu85Lys) c.94-330G>A (n.94-330G>A) n.336-147977G>A c.4981G>A (p.Glu1661Lys) c.4636G>A (p.Glu1546Lys) c.982G>A (p.Glu328Lys) c.4876G>A (p.Glu1626Lys) | |
X | g.32365040_32365049delinsCTTCTGCTCG | CA2422770099 | DMD | c.4996_5005delinsCGAGCAGAAG (p.Arg1666=) c.964_973delinsCGAGCAGAAG (p.Arg322=) c.4984_4993delinsCGAGCAGAAG (p.Arg1662=) c.244_253delinsCGAGCAGAAG (p.Arg82=) c.94-339_94-330delinsCGAGCAGAAG (n.94-339_94-330delinsCGAGCAGAAG) n.336-147986_336-147977delinsCGAGCAGAAG c.4972_4981delinsCGAGCAGAAG (p.Arg1658=) c.4627_4636delinsCGAGCAGAAG (p.Arg1543=) c.973_982delinsCGAGCAGAAG (p.Arg325=) c.4867_4876delinsCGAGCAGAAG (p.Arg1623=) | |
X | g.32365041T>A | CA412671808 | DMD | c.5004A>T (p.Glu1668Asp) c.972A>T (p.Glu324Asp) c.4992A>T (p.Glu1664Asp) c.252A>T (p.Glu84Asp) c.94-331A>T (n.94-331A>T) n.336-147978A>T c.4980A>T (p.Glu1660Asp) c.4635A>T (p.Glu1545Asp) c.981A>T (p.Glu327Asp) c.4875A>T (p.Glu1625Asp) | |
X | g.32365041T>C | CA515714750 | DMD | c.5004A>G (p.Glu1668=) c.972A>G (p.Glu324=) c.4992A>G (p.Glu1664=) c.252A>G (p.Glu84=) c.94-331A>G (n.94-331A>G) n.336-147978A>G c.4980A>G (p.Glu1660=) c.4635A>G (p.Glu1545=) c.981A>G (p.Glu327=) c.4875A>G (p.Glu1625=) | |
X | g.32365041T>G | CA412671809 | DMD | c.5004A>C (p.Glu1668Asp) c.972A>C (p.Glu324Asp) c.4992A>C (p.Glu1664Asp) c.252A>C (p.Glu84Asp) c.94-331A>C (n.94-331A>C) n.336-147978A>C c.4980A>C (p.Glu1660Asp) c.4635A>C (p.Glu1545Asp) c.981A>C (p.Glu327Asp) c.4875A>C (p.Glu1625Asp) | |
X | g.32365041_32365049delinsA | CA267049 | DMD | c.4996_5004delinsT (p.Arg1666Ter) c.964_972delinsT (p.Arg322Ter) c.4984_4992delinsT (p.Arg1662Ter) c.244_252delinsT (p.Arg82Ter) c.94-339_94-331delinsT (n.94-339_94-331delinsT) n.336-147986_336-147978delinsT c.4972_4980delinsT (p.Arg1658Ter) c.4627_4635delinsT (p.Arg1543Ter) c.973_981delinsT (p.Arg325Ter) c.4867_4875delinsT (p.Arg1623Ter) | dbSNP |
X | g.32365042T>A | CA412671815 | DMD | c.5003A>T (p.Glu1668Val) c.971A>T (p.Glu324Val) c.4991A>T (p.Glu1664Val) c.251A>T (p.Glu84Val) c.94-332A>T (n.94-332A>T) n.336-147979A>T c.4979A>T (p.Glu1660Val) c.4634A>T (p.Glu1545Val) c.980A>T (p.Glu327Val) c.4874A>T (p.Glu1625Val) | |
X | g.32365042T>C | CA412671811 | DMD | c.5003A>G (p.Glu1668Gly) c.971A>G (p.Glu324Gly) c.4991A>G (p.Glu1664Gly) c.251A>G (p.Glu84Gly) c.94-332A>G (n.94-332A>G) n.336-147979A>G c.4979A>G (p.Glu1660Gly) c.4634A>G (p.Glu1545Gly) c.980A>G (p.Glu327Gly) c.4874A>G (p.Glu1625Gly) | |
X | g.32365042T>G | CA412671813 | DMD | c.5003A>C (p.Glu1668Ala) c.971A>C (p.Glu324Ala) c.4991A>C (p.Glu1664Ala) c.251A>C (p.Glu84Ala) c.94-332A>C (n.94-332A>C) n.336-147979A>C c.4979A>C (p.Glu1660Ala) c.4634A>C (p.Glu1545Ala) c.980A>C (p.Glu327Ala) c.4874A>C (p.Glu1625Ala) | |
X | g.32365043C>A | CA412671816 | DMD | c.5002G>T (p.Glu1668Ter) c.970G>T (p.Glu324Ter) c.4990G>T (p.Glu1664Ter) c.250G>T (p.Glu84Ter) c.94-333G>T (n.94-333G>T) n.336-147980G>T c.4978G>T (p.Glu1660Ter) c.4633G>T (p.Glu1545Ter) c.979G>T (p.Glu327Ter) c.4873G>T (p.Glu1625Ter) | ClinVar dbSNP |
X | g.32365043C>G | CA412671818 | DMD | c.5002G>C (p.Glu1668Gln) c.970G>C (p.Glu324Gln) c.4990G>C (p.Glu1664Gln) c.250G>C (p.Glu84Gln) c.94-333G>C (n.94-333G>C) n.336-147980G>C c.4978G>C (p.Glu1660Gln) c.4633G>C (p.Glu1545Gln) c.979G>C (p.Glu327Gln) c.4873G>C (p.Glu1625Gln) | |
X | g.32365043C>T | CA412671819 | DMD | c.5002G>A (p.Glu1668Lys) c.970G>A (p.Glu324Lys) c.4990G>A (p.Glu1664Lys) c.250G>A (p.Glu84Lys) c.94-333G>A (n.94-333G>A) n.336-147980G>A c.4978G>A (p.Glu1660Lys) c.4633G>A (p.Glu1545Lys) c.979G>A (p.Glu327Lys) c.4873G>A (p.Glu1625Lys) | |
X | g.32365045_32365047del | CA2695234104 | DMD | c.5000_5002del (p.Ala1667del) c.968_970del (p.Ala323del) c.4988_4990del (p.Ala1663del) c.248_250del (p.Ala83del) c.94-335_94-333del (n.94-335_94-333del) n.336-147982_336-147980del c.4976_4978del (p.Ala1659del) c.4631_4633del (p.Ala1544del) c.977_979del (p.Ala326del) c.4871_4873del (p.Ala1624del) | |
X | g.32365044T>A | CA515714751 | DMD | c.5001A>T (p.Ala1667=) c.969A>T (p.Ala323=) c.4989A>T (p.Ala1663=) c.249A>T (p.Ala83=) c.94-334A>T (n.94-334A>T) n.336-147981A>T c.4977A>T (p.Ala1659=) c.4632A>T (p.Ala1544=) c.978A>T (p.Ala326=) c.4872A>T (p.Ala1624=) | |
X | g.32365044T>C | CA515714752 | DMD | c.5001A>G (p.Ala1667=) c.969A>G (p.Ala323=) c.4989A>G (p.Ala1663=) c.249A>G (p.Ala83=) c.94-334A>G (n.94-334A>G) n.336-147981A>G c.4977A>G (p.Ala1659=) c.4632A>G (p.Ala1544=) c.978A>G (p.Ala326=) c.4872A>G (p.Ala1624=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32365044T>G | CA515714753 | DMD | c.5001A>C (p.Ala1667=) c.969A>C (p.Ala323=) c.4989A>C (p.Ala1663=) c.249A>C (p.Ala83=) c.94-334A>C (n.94-334A>C) n.336-147981A>C c.4977A>C (p.Ala1659=) c.4632A>C (p.Ala1544=) c.978A>C (p.Ala326=) c.4872A>C (p.Ala1624=) | |
X | g.32365044T= | CA2422770100 | DMD | c.5001A= (p.Ala1667=) c.969A= (p.Ala323=) c.4989A= (p.Ala1663=) c.249A= (p.Ala83=) c.94-334A= (n.94-334A=) n.336-147981A= c.4977A= (p.Ala1659=) c.4632A= (p.Ala1544=) c.978A= (p.Ala326=) c.4872A= (p.Ala1624=) | |
X | g.32365044_32365045dup | CA2695234105 | DMD | c.5000_5001dup (p.Glu1668GlnfsTer5) c.968_969dup (p.Glu324GlnfsTer5) c.4988_4989dup (p.Glu1664GlnfsTer5) c.248_249dup (p.Glu84GlnfsTer5) c.94-335_94-334dup (n.94-335_94-334dup) n.336-147982_336-147981dup c.4976_4977dup (p.Glu1660GlnfsTer5) c.4631_4632dup (p.Glu1545GlnfsTer5) c.977_978dup (p.Glu327GlnfsTer5) c.4871_4872dup (p.Glu1625GlnfsTer5) | |
X | g.32365045G>A | CA10378810 | DMD | c.5000C>T (p.Ala1667Val) c.968C>T (p.Ala323Val) c.4988C>T (p.Ala1663Val) c.248C>T (p.Ala83Val) c.94-335C>T (n.94-335C>T) n.336-147982C>T c.4976C>T (p.Ala1659Val) c.4631C>T (p.Ala1544Val) c.977C>T (p.Ala326Val) c.4871C>T (p.Ala1624Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32365045G>C | CA412671821 | DMD | c.5000C>G (p.Ala1667Gly) c.968C>G (p.Ala323Gly) c.4988C>G (p.Ala1663Gly) c.248C>G (p.Ala83Gly) c.94-335C>G (n.94-335C>G) n.336-147982C>G c.4976C>G (p.Ala1659Gly) c.4631C>G (p.Ala1544Gly) c.977C>G (p.Ala326Gly) c.4871C>G (p.Ala1624Gly) | |
X | g.32365045G= | CA2422770101 | DMD | c.5000C= (p.Ala1667=) c.968C= (p.Ala323=) c.4988C= (p.Ala1663=) c.248C= (p.Ala83=) c.94-335C= (n.94-335C=) n.336-147982C= c.4976C= (p.Ala1659=) c.4631C= (p.Ala1544=) c.977C= (p.Ala326=) c.4871C= (p.Ala1624=) | |
X | g.32365045G>T | CA412671823 | DMD | c.5000C>A (p.Ala1667Glu) c.968C>A (p.Ala323Glu) c.4988C>A (p.Ala1663Glu) c.248C>A (p.Ala83Glu) c.94-335C>A (n.94-335C>A) n.336-147982C>A c.4976C>A (p.Ala1659Glu) c.4631C>A (p.Ala1544Glu) c.977C>A (p.Ala326Glu) c.4871C>A (p.Ala1624Glu) | gnomAD v4 |
X | g.32365046C>A | CA412671825 | DMD | c.4999G>T (p.Ala1667Ser) c.967G>T (p.Ala323Ser) c.4987G>T (p.Ala1663Ser) c.247G>T (p.Ala83Ser) c.94-336G>T (n.94-336G>T) n.336-147983G>T c.4975G>T (p.Ala1659Ser) c.4630G>T (p.Ala1544Ser) c.976G>T (p.Ala326Ser) c.4870G>T (p.Ala1624Ser) | |
X | g.32365046C= | CA2422770102 | DMD | c.4999G= (p.Ala1667=) c.967G= (p.Ala323=) c.4987G= (p.Ala1663=) c.247G= (p.Ala83=) c.94-336G= (n.94-336G=) n.336-147983G= c.4975G= (p.Ala1659=) c.4630G= (p.Ala1544=) c.976G= (p.Ala326=) c.4870G= (p.Ala1624=) | |
X | g.32365046C>G | CA412671826 | DMD | c.4999G>C (p.Ala1667Pro) c.967G>C (p.Ala323Pro) c.4987G>C (p.Ala1663Pro) c.247G>C (p.Ala83Pro) c.94-336G>C (n.94-336G>C) n.336-147983G>C c.4975G>C (p.Ala1659Pro) c.4630G>C (p.Ala1544Pro) c.976G>C (p.Ala326Pro) c.4870G>C (p.Ala1624Pro) | |
X | g.32365046C>T | CA10378811 | DMD | c.4999G>A (p.Ala1667Thr) c.967G>A (p.Ala323Thr) c.4987G>A (p.Ala1663Thr) c.247G>A (p.Ala83Thr) c.94-336G>A (n.94-336G>A) n.336-147983G>A c.4975G>A (p.Ala1659Thr) c.4630G>A (p.Ala1544Thr) c.976G>A (p.Ala326Thr) c.4870G>A (p.Ala1624Thr) | dbSNP ExAC |
X | g.32365047T>A | CA515714754 | DMD | c.4998A>T (p.Arg1666=) c.966A>T (p.Arg322=) c.4986A>T (p.Arg1662=) c.246A>T (p.Arg82=) c.94-337A>T (n.94-337A>T) n.336-147984A>T c.4974A>T (p.Arg1658=) c.4629A>T (p.Arg1543=) c.975A>T (p.Arg325=) c.4869A>T (p.Arg1623=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365047T>C | CA515714755 | DMD | c.4998A>G (p.Arg1666=) c.966A>G (p.Arg322=) c.4986A>G (p.Arg1662=) c.246A>G (p.Arg82=) c.94-337A>G (n.94-337A>G) n.336-147984A>G c.4974A>G (p.Arg1658=) c.4629A>G (p.Arg1543=) c.975A>G (p.Arg325=) c.4869A>G (p.Arg1623=) | |
X | g.32365047T>G | CA515714756 | DMD | c.4998A>C (p.Arg1666=) c.966A>C (p.Arg322=) c.4986A>C (p.Arg1662=) c.246A>C (p.Arg82=) c.94-337A>C (n.94-337A>C) n.336-147984A>C c.4974A>C (p.Arg1658=) c.4629A>C (p.Arg1543=) c.975A>C (p.Arg325=) c.4869A>C (p.Arg1623=) | |
X | g.32365047T= | CA2422770103 | DMD | c.4998A= (p.Arg1666=) c.966A= (p.Arg322=) c.4986A= (p.Arg1662=) c.246A= (p.Arg82=) c.94-337A= (n.94-337A=) n.336-147984A= c.4974A= (p.Arg1658=) c.4629A= (p.Arg1543=) c.975A= (p.Arg325=) c.4869A= (p.Arg1623=) | |
X | g.32365048C>A | CA327995608 | DMD | c.4997G>T (p.Arg1666Leu) c.965G>T (p.Arg322Leu) c.4985G>T (p.Arg1662Leu) c.245G>T (p.Arg82Leu) c.94-338G>T (n.94-338G>T) n.336-147985G>T c.4973G>T (p.Arg1658Leu) c.4628G>T (p.Arg1543Leu) c.974G>T (p.Arg325Leu) c.4868G>T (p.Arg1623Leu) | ClinVar dbSNP |
X | g.32365048C= | CA2422770104 | DMD | c.4997G= (p.Arg1666=) c.965G= (p.Arg322=) c.4985G= (p.Arg1662=) c.245G= (p.Arg82=) c.94-338G= (n.94-338G=) n.336-147985G= c.4973G= (p.Arg1658=) c.4628G= (p.Arg1543=) c.974G= (p.Arg325=) c.4868G= (p.Arg1623=) | |
X | g.32365048C>G | CA412671830 | DMD | c.4997G>C (p.Arg1666Pro) c.965G>C (p.Arg322Pro) c.4985G>C (p.Arg1662Pro) c.245G>C (p.Arg82Pro) c.94-338G>C (n.94-338G>C) n.336-147985G>C c.4973G>C (p.Arg1658Pro) c.4628G>C (p.Arg1543Pro) c.974G>C (p.Arg325Pro) c.4868G>C (p.Arg1623Pro) | |
X | g.32365048C>T | CA412671832 | DMD | c.4997G>A (p.Arg1666Gln) c.965G>A (p.Arg322Gln) c.4985G>A (p.Arg1662Gln) c.245G>A (p.Arg82Gln) c.94-338G>A (n.94-338G>A) n.336-147985G>A c.4973G>A (p.Arg1658Gln) c.4628G>A (p.Arg1543Gln) c.974G>A (p.Arg325Gln) c.4868G>A (p.Arg1623Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365049G>A | CA267046 | DMD | c.4996C>T (p.Arg1666Ter) c.964C>T (p.Arg322Ter) c.4984C>T (p.Arg1662Ter) c.244C>T (p.Arg82Ter) c.94-339C>T (n.94-339C>T) n.336-147986C>T c.4972C>T (p.Arg1658Ter) c.4627C>T (p.Arg1543Ter) c.973C>T (p.Arg325Ter) c.4867C>T (p.Arg1623Ter) | ClinVar dbSNP gnomAD v4 |
X | g.32365049G>C | CA412671833 | DMD | c.4996C>G (p.Arg1666Gly) c.964C>G (p.Arg322Gly) c.4984C>G (p.Arg1662Gly) c.244C>G (p.Arg82Gly) c.94-339C>G (n.94-339C>G) n.336-147986C>G c.4972C>G (p.Arg1658Gly) c.4627C>G (p.Arg1543Gly) c.973C>G (p.Arg325Gly) c.4867C>G (p.Arg1623Gly) | |
X | g.32365049G= | CA2422770105 | DMD | c.4996C= (p.Arg1666=) c.964C= (p.Arg322=) c.4984C= (p.Arg1662=) c.244C= (p.Arg82=) c.94-339C= (n.94-339C=) n.336-147986C= c.4972C= (p.Arg1658=) c.4627C= (p.Arg1543=) c.973C= (p.Arg325=) c.4867C= (p.Arg1623=) | |
X | g.32365049G>T | CA515714757 | DMD | c.4996C>A (p.Arg1666=) c.964C>A (p.Arg322=) c.4984C>A (p.Arg1662=) c.244C>A (p.Arg82=) c.94-339C>A (n.94-339C>A) n.336-147986C>A c.4972C>A (p.Arg1658=) c.4627C>A (p.Arg1543=) c.973C>A (p.Arg325=) c.4867C>A (p.Arg1623=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.32365050G>A | CA10378812 | DMD | c.4995C>T (p.Ser1665=) c.963C>T (p.Ser321=) c.4983C>T (p.Ser1661=) c.243C>T (p.Ser81=) c.94-340C>T (n.94-340C>T) n.336-147987C>T c.4971C>T (p.Ser1657=) c.4626C>T (p.Ser1542=) c.972C>T (p.Ser324=) c.4866C>T (p.Ser1622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365050G>C | CA515714758 | DMD | c.4995C>G (p.Ser1665=) c.963C>G (p.Ser321=) c.4983C>G (p.Ser1661=) c.243C>G (p.Ser81=) c.94-340C>G (n.94-340C>G) n.336-147987C>G c.4971C>G (p.Ser1657=) c.4626C>G (p.Ser1542=) c.972C>G (p.Ser324=) c.4866C>G (p.Ser1622=) | ClinVar |
X | g.32365050G= | CA2422770106 | DMD | c.4995C= (p.Ser1665=) c.963C= (p.Ser321=) c.4983C= (p.Ser1661=) c.243C= (p.Ser81=) c.94-340C= (n.94-340C=) n.336-147987C= c.4971C= (p.Ser1657=) c.4626C= (p.Ser1542=) c.972C= (p.Ser324=) c.4866C= (p.Ser1622=) | |
X | g.32365050G>T | CA515714759 | DMD | c.4995C>A (p.Ser1665=) c.963C>A (p.Ser321=) c.4983C>A (p.Ser1661=) c.243C>A (p.Ser81=) c.94-340C>A (n.94-340C>A) n.336-147987C>A c.4971C>A (p.Ser1657=) c.4626C>A (p.Ser1542=) c.972C>A (p.Ser324=) c.4866C>A (p.Ser1622=) | |
X | g.32365051G>A | CA412671836 | DMD | c.4994C>T (p.Ser1665Phe) c.962C>T (p.Ser321Phe) c.4982C>T (p.Ser1661Phe) c.242C>T (p.Ser81Phe) c.94-341C>T (n.94-341C>T) n.336-147988C>T c.4970C>T (p.Ser1657Phe) c.4625C>T (p.Ser1542Phe) c.971C>T (p.Ser324Phe) c.4865C>T (p.Ser1622Phe) | gnomAD v4 |
X | g.32365051G>C | CA412671839 | DMD | c.4994C>G (p.Ser1665Cys) c.962C>G (p.Ser321Cys) c.4982C>G (p.Ser1661Cys) c.242C>G (p.Ser81Cys) c.94-341C>G (n.94-341C>G) n.336-147988C>G c.4970C>G (p.Ser1657Cys) c.4625C>G (p.Ser1542Cys) c.971C>G (p.Ser324Cys) c.4865C>G (p.Ser1622Cys) | ClinVar |
X | g.32365051G>T | CA412671841 | DMD | c.4994C>A (p.Ser1665Tyr) c.962C>A (p.Ser321Tyr) c.4982C>A (p.Ser1661Tyr) c.242C>A (p.Ser81Tyr) c.94-341C>A (n.94-341C>A) n.336-147988C>A c.4970C>A (p.Ser1657Tyr) c.4625C>A (p.Ser1542Tyr) c.971C>A (p.Ser324Tyr) c.4865C>A (p.Ser1622Tyr) | |
X | g.32365052A>C | CA412671844 | DMD | c.4993T>G (p.Ser1665Ala) c.961T>G (p.Ser321Ala) c.4981T>G (p.Ser1661Ala) c.241T>G (p.Ser81Ala) c.94-342T>G (n.94-342T>G) n.336-147989T>G c.4969T>G (p.Ser1657Ala) c.4624T>G (p.Ser1542Ala) c.970T>G (p.Ser324Ala) c.4864T>G (p.Ser1622Ala) | |
X | g.32365052A>G | CA412671846 | DMD | c.4993T>C (p.Ser1665Pro) c.961T>C (p.Ser321Pro) c.4981T>C (p.Ser1661Pro) c.241T>C (p.Ser81Pro) c.94-342T>C (n.94-342T>C) n.336-147989T>C c.4969T>C (p.Ser1657Pro) c.4624T>C (p.Ser1542Pro) c.970T>C (p.Ser324Pro) c.4864T>C (p.Ser1622Pro) | |
X | g.32365052A>T | CA412671848 | DMD | c.4993T>A (p.Ser1665Thr) c.961T>A (p.Ser321Thr) c.4981T>A (p.Ser1661Thr) c.241T>A (p.Ser81Thr) c.94-342T>A (n.94-342T>A) n.336-147989T>A c.4969T>A (p.Ser1657Thr) c.4624T>A (p.Ser1542Thr) c.970T>A (p.Ser324Thr) c.4864T>A (p.Ser1622Thr) | |
X | g.32365053G>A | CA515714760 | DMD | c.4992C>T (p.Thr1664=) c.960C>T (p.Thr320=) c.4980C>T (p.Thr1660=) c.240C>T (p.Thr80=) c.94-343C>T (n.94-343C>T) n.336-147990C>T c.4968C>T (p.Thr1656=) c.4623C>T (p.Thr1541=) c.969C>T (p.Thr323=) c.4863C>T (p.Thr1621=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32365053G>C | CA515714761 | DMD | c.4992C>G (p.Thr1664=) c.960C>G (p.Thr320=) c.4980C>G (p.Thr1660=) c.240C>G (p.Thr80=) c.94-343C>G (n.94-343C>G) n.336-147990C>G c.4968C>G (p.Thr1656=) c.4623C>G (p.Thr1541=) c.969C>G (p.Thr323=) c.4863C>G (p.Thr1621=) | |
X | g.32365053G= | CA2422770107 | DMD | c.4992C= (p.Thr1664=) c.960C= (p.Thr320=) c.4980C= (p.Thr1660=) c.240C= (p.Thr80=) c.94-343C= (n.94-343C=) n.336-147990C= c.4968C= (p.Thr1656=) c.4623C= (p.Thr1541=) c.969C= (p.Thr323=) c.4863C= (p.Thr1621=) | |
X | g.32365053G>T | CA515714762 | DMD | c.4992C>A (p.Thr1664=) c.960C>A (p.Thr320=) c.4980C>A (p.Thr1660=) c.240C>A (p.Thr80=) c.94-343C>A (n.94-343C>A) n.336-147990C>A c.4968C>A (p.Thr1656=) c.4623C>A (p.Thr1541=) c.969C>A (p.Thr323=) c.4863C>A (p.Thr1621=) | |
X | g.32365054G>A | CA412671850 | DMD | c.4991C>T (p.Thr1664Ile) c.959C>T (p.Thr320Ile) c.4979C>T (p.Thr1660Ile) c.239C>T (p.Thr80Ile) c.94-344C>T (n.94-344C>T) n.336-147991C>T c.4967C>T (p.Thr1656Ile) c.4622C>T (p.Thr1541Ile) c.968C>T (p.Thr323Ile) c.4862C>T (p.Thr1621Ile) | |
X | g.32365054G>C | CA412671851 | DMD | c.4991C>G (p.Thr1664Ser) c.959C>G (p.Thr320Ser) c.4979C>G (p.Thr1660Ser) c.239C>G (p.Thr80Ser) c.94-344C>G (n.94-344C>G) n.336-147991C>G c.4967C>G (p.Thr1656Ser) c.4622C>G (p.Thr1541Ser) c.968C>G (p.Thr323Ser) c.4862C>G (p.Thr1621Ser) | |
X | g.32365054G>T | CA412671853 | DMD | c.4991C>A (p.Thr1664Asn) c.959C>A (p.Thr320Asn) c.4979C>A (p.Thr1660Asn) c.239C>A (p.Thr80Asn) c.94-344C>A (n.94-344C>A) n.336-147991C>A c.4967C>A (p.Thr1656Asn) c.4622C>A (p.Thr1541Asn) c.968C>A (p.Thr323Asn) c.4862C>A (p.Thr1621Asn) | |
X | g.32365055T>A | CA412671856 | DMD | c.4990A>T (p.Thr1664Ser) c.958A>T (p.Thr320Ser) c.4978A>T (p.Thr1660Ser) c.238A>T (p.Thr80Ser) c.94-345A>T (n.94-345A>T) n.336-147992A>T c.4966A>T (p.Thr1656Ser) c.4621A>T (p.Thr1541Ser) c.967A>T (p.Thr323Ser) c.4861A>T (p.Thr1621Ser) | |
X | g.32365055T>C | CA327995616 | DMD | c.4990A>G (p.Thr1664Ala) c.958A>G (p.Thr320Ala) c.4978A>G (p.Thr1660Ala) c.238A>G (p.Thr80Ala) c.94-345A>G (n.94-345A>G) n.336-147992A>G c.4966A>G (p.Thr1656Ala) c.4621A>G (p.Thr1541Ala) c.967A>G (p.Thr323Ala) c.4861A>G (p.Thr1621Ala) | dbSNP gnomAD v4 |
X | g.32365055T>G | CA412671858 | DMD | c.4990A>C (p.Thr1664Pro) c.958A>C (p.Thr320Pro) c.4978A>C (p.Thr1660Pro) c.238A>C (p.Thr80Pro) c.94-345A>C (n.94-345A>C) n.336-147992A>C c.4966A>C (p.Thr1656Pro) c.4621A>C (p.Thr1541Pro) c.967A>C (p.Thr323Pro) c.4861A>C (p.Thr1621Pro) | ClinVar |
X | g.32365055T= | CA2422770108 | DMD | c.4990A= (p.Thr1664=) c.958A= (p.Thr320=) c.4978A= (p.Thr1660=) c.238A= (p.Thr80=) c.94-345A= (n.94-345A=) n.336-147992A= c.4966A= (p.Thr1656=) c.4621A= (p.Thr1541=) c.967A= (p.Thr323=) c.4861A= (p.Thr1621=) | |
X | g.32365056G>A | CA515714765 | DMD | c.4989C>T (p.Val1663=) c.957C>T (p.Val319=) c.4977C>T (p.Val1659=) c.237C>T (p.Val79=) c.94-346C>T (n.94-346C>T) n.336-147993C>T c.4965C>T (p.Val1655=) c.4620C>T (p.Val1540=) c.966C>T (p.Val322=) c.4860C>T (p.Val1620=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.32365056G>C | CA515714764 | DMD | c.4989C>G (p.Val1663=) c.957C>G (p.Val319=) c.4977C>G (p.Val1659=) c.237C>G (p.Val79=) c.94-346C>G (n.94-346C>G) n.336-147993C>G c.4965C>G (p.Val1655=) c.4620C>G (p.Val1540=) c.966C>G (p.Val322=) c.4860C>G (p.Val1620=) | |
X | g.32365056G= | CA2422770109 | DMD | c.4989C= (p.Val1663=) c.957C= (p.Val319=) c.4977C= (p.Val1659=) c.237C= (p.Val79=) c.94-346C= (n.94-346C=) n.336-147993C= c.4965C= (p.Val1655=) c.4620C= (p.Val1540=) c.966C= (p.Val322=) c.4860C= (p.Val1620=) | |
X | g.32365056G>T | CA515714763 | DMD | c.4989C>A (p.Val1663=) c.957C>A (p.Val319=) c.4977C>A (p.Val1659=) c.237C>A (p.Val79=) c.94-346C>A (n.94-346C>A) n.336-147993C>A c.4965C>A (p.Val1655=) c.4620C>A (p.Val1540=) c.966C>A (p.Val322=) c.4860C>A (p.Val1620=) | |
X | g.32365057A>C | CA412671864 | DMD | c.4988T>G (p.Val1663Gly) c.956T>G (p.Val319Gly) c.4976T>G (p.Val1659Gly) c.236T>G (p.Val79Gly) c.94-347T>G (n.94-347T>G) n.336-147994T>G c.4964T>G (p.Val1655Gly) c.4619T>G (p.Val1540Gly) c.965T>G (p.Val322Gly) c.4859T>G (p.Val1620Gly) | |
X | g.32365057A>G | CA412671866 | DMD | c.4988T>C (p.Val1663Ala) c.956T>C (p.Val319Ala) c.4976T>C (p.Val1659Ala) c.236T>C (p.Val79Ala) c.94-347T>C (n.94-347T>C) n.336-147994T>C c.4964T>C (p.Val1655Ala) c.4619T>C (p.Val1540Ala) c.965T>C (p.Val322Ala) c.4859T>C (p.Val1620Ala) | |
X | g.32365057A>T | CA412671861 | DMD | c.4988T>A (p.Val1663Asp) c.956T>A (p.Val319Asp) c.4976T>A (p.Val1659Asp) c.236T>A (p.Val79Asp) c.94-347T>A (n.94-347T>A) n.336-147994T>A c.4964T>A (p.Val1655Asp) c.4619T>A (p.Val1540Asp) c.965T>A (p.Val322Asp) c.4859T>A (p.Val1620Asp) | |
X | g.32365058C>A | CA412671868 | DMD | c.4987G>T (p.Val1663Phe) c.955G>T (p.Val319Phe) c.4975G>T (p.Val1659Phe) c.235G>T (p.Val79Phe) c.94-348G>T (n.94-348G>T) n.336-147995G>T c.4963G>T (p.Val1655Phe) c.4618G>T (p.Val1540Phe) c.964G>T (p.Val322Phe) c.4858G>T (p.Val1620Phe) | |
X | g.32365058C>G | CA412671870 | DMD | c.4987G>C (p.Val1663Leu) c.955G>C (p.Val319Leu) c.4975G>C (p.Val1659Leu) c.235G>C (p.Val79Leu) c.94-348G>C (n.94-348G>C) n.336-147995G>C c.4963G>C (p.Val1655Leu) c.4618G>C (p.Val1540Leu) c.964G>C (p.Val322Leu) c.4858G>C (p.Val1620Leu) | |
X | g.32365058C>T | CA412671872 | DMD | c.4987G>A (p.Val1663Ile) c.955G>A (p.Val319Ile) c.4975G>A (p.Val1659Ile) c.235G>A (p.Val79Ile) c.94-348G>A (n.94-348G>A) n.336-147995G>A c.4963G>A (p.Val1655Ile) c.4618G>A (p.Val1540Ile) c.964G>A (p.Val322Ile) c.4858G>A (p.Val1620Ile) | ClinVar dbSNP gnomAD v4 |
X | g.32365059A>C | CA515714766 | DMD | c.4986T>G (p.Ala1662=) c.954T>G (p.Ala318=) c.4974T>G (p.Ala1658=) c.234T>G (p.Ala78=) c.94-349T>G (n.94-349T>G) n.336-147996T>G c.4962T>G (p.Ala1654=) c.4617T>G (p.Ala1539=) c.963T>G (p.Ala321=) c.4857T>G (p.Ala1619=) | |
X | g.32365059A>G | CA515714767 | DMD | c.4986T>C (p.Ala1662=) c.954T>C (p.Ala318=) c.4974T>C (p.Ala1658=) c.234T>C (p.Ala78=) c.94-349T>C (n.94-349T>C) n.336-147996T>C c.4962T>C (p.Ala1654=) c.4617T>C (p.Ala1539=) c.963T>C (p.Ala321=) c.4857T>C (p.Ala1619=) | ClinVar dbSNP gnomAD v4 |
X | g.32365059A>T | CA515714768 | DMD | c.4986T>A (p.Ala1662=) c.954T>A (p.Ala318=) c.4974T>A (p.Ala1658=) c.234T>A (p.Ala78=) c.94-349T>A (n.94-349T>A) n.336-147996T>A c.4962T>A (p.Ala1654=) c.4617T>A (p.Ala1539=) c.963T>A (p.Ala321=) c.4857T>A (p.Ala1619=) | |
X | g.32365060G>A | CA412671873 | DMD | c.4985C>T (p.Ala1662Val) c.953C>T (p.Ala318Val) c.4973C>T (p.Ala1658Val) c.233C>T (p.Ala78Val) c.94-350C>T (n.94-350C>T) n.336-147997C>T c.4961C>T (p.Ala1654Val) c.4616C>T (p.Ala1539Val) c.962C>T (p.Ala321Val) c.4856C>T (p.Ala1619Val) | |
X | g.32365060G>C | CA412671875 | DMD | c.4985C>G (p.Ala1662Gly) c.953C>G (p.Ala318Gly) c.4973C>G (p.Ala1658Gly) c.233C>G (p.Ala78Gly) c.94-350C>G (n.94-350C>G) n.336-147997C>G c.4961C>G (p.Ala1654Gly) c.4616C>G (p.Ala1539Gly) c.962C>G (p.Ala321Gly) c.4856C>G (p.Ala1619Gly) | |
X | g.32365060G>T | CA412671876 | DMD | c.4985C>A (p.Ala1662Asp) c.953C>A (p.Ala318Asp) c.4973C>A (p.Ala1658Asp) c.233C>A (p.Ala78Asp) c.94-350C>A (n.94-350C>A) n.336-147997C>A c.4961C>A (p.Ala1654Asp) c.4616C>A (p.Ala1539Asp) c.962C>A (p.Ala321Asp) c.4856C>A (p.Ala1619Asp) | dbSNP |
X | g.32365061C>A | CA412671879 | DMD | c.4984G>T (p.Ala1662Ser) c.952G>T (p.Ala318Ser) c.4972G>T (p.Ala1658Ser) c.232G>T (p.Ala78Ser) c.94-351G>T (n.94-351G>T) n.336-147998G>T c.4960G>T (p.Ala1654Ser) c.4615G>T (p.Ala1539Ser) c.961G>T (p.Ala321Ser) c.4855G>T (p.Ala1619Ser) | |
X | g.32365061C>G | CA412671882 | DMD | c.4984G>C (p.Ala1662Pro) c.952G>C (p.Ala318Pro) c.4972G>C (p.Ala1658Pro) c.232G>C (p.Ala78Pro) c.94-351G>C (n.94-351G>C) n.336-147998G>C c.4960G>C (p.Ala1654Pro) c.4615G>C (p.Ala1539Pro) c.961G>C (p.Ala321Pro) c.4855G>C (p.Ala1619Pro) | |
X | g.32365061C>T | CA412671880 | DMD | c.4984G>A (p.Ala1662Thr) c.952G>A (p.Ala318Thr) c.4972G>A (p.Ala1658Thr) c.232G>A (p.Ala78Thr) c.94-351G>A (n.94-351G>A) n.336-147998G>A c.4960G>A (p.Ala1654Thr) c.4615G>A (p.Ala1539Thr) c.961G>A (p.Ala321Thr) c.4855G>A (p.Ala1619Thr) | |
X | g.32365062del | CA2697552973 | DMD | c.4983del (p.Ile1661MetfsTer11) c.951del (p.Ile317MetfsTer11) c.4971del (p.Ile1657MetfsTer11) c.231del (p.Ile77MetfsTer11) c.94-352del (n.94-352del) n.336-147999del c.4959del (p.Ile1653MetfsTer11) c.4614del (p.Ile1538MetfsTer11) c.960del (p.Ile320MetfsTer11) c.4854del (p.Ile1618MetfsTer11) | ClinVar |
X | g.32365062T>A | CA515714769 | DMD | c.4983A>T (p.Ile1661=) c.951A>T (p.Ile317=) c.4971A>T (p.Ile1657=) c.231A>T (p.Ile77=) c.94-352A>T (n.94-352A>T) n.336-147999A>T c.4959A>T (p.Ile1653=) c.4614A>T (p.Ile1538=) c.960A>T (p.Ile320=) c.4854A>T (p.Ile1618=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32365062T>C | CA412671884 | DMD | c.4983A>G (p.Ile1661Met) c.951A>G (p.Ile317Met) c.4971A>G (p.Ile1657Met) c.231A>G (p.Ile77Met) c.94-352A>G (n.94-352A>G) n.336-147999A>G c.4959A>G (p.Ile1653Met) c.4614A>G (p.Ile1538Met) c.960A>G (p.Ile320Met) c.4854A>G (p.Ile1618Met) | |
X | g.32365062T>G | CA515714770 | DMD | c.4983A>C (p.Ile1661=) c.951A>C (p.Ile317=) c.4971A>C (p.Ile1657=) c.231A>C (p.Ile77=) c.94-352A>C (n.94-352A>C) n.336-147999A>C c.4959A>C (p.Ile1653=) c.4614A>C (p.Ile1538=) c.960A>C (p.Ile320=) c.4854A>C (p.Ile1618=) | |
X | g.32365062T= | CA2422770110 | DMD | c.4983A= (p.Ile1661=) c.951A= (p.Ile317=) c.4971A= (p.Ile1657=) c.231A= (p.Ile77=) c.94-352A= (n.94-352A=) n.336-147999A= c.4959A= (p.Ile1653=) c.4614A= (p.Ile1538=) c.960A= (p.Ile320=) c.4854A= (p.Ile1618=) | |
X | g.32365062dup | CA2695234106 | DMD | c.4983dup (p.Ala1662SerfsTer24) c.951dup (p.Ala318SerfsTer24) c.4971dup (p.Ala1658SerfsTer24) c.231dup (p.Ala78SerfsTer24) c.94-352dup (n.94-352dup) n.336-147999dup c.4959dup (p.Ala1654SerfsTer24) c.4614dup (p.Ala1539SerfsTer24) c.960dup (p.Ala321SerfsTer24) c.4854dup (p.Ala1619SerfsTer24) | |
X | g.32365063A>C | CA412671886 | DMD | c.4982T>G (p.Ile1661Arg) c.950T>G (p.Ile317Arg) c.4970T>G (p.Ile1657Arg) c.230T>G (p.Ile77Arg) c.94-353T>G (n.94-353T>G) n.336-148000T>G c.4958T>G (p.Ile1653Arg) c.4613T>G (p.Ile1538Arg) c.959T>G (p.Ile320Arg) c.4853T>G (p.Ile1618Arg) | |
X | g.32365063A>G | CA412671888 | DMD | c.4982T>C (p.Ile1661Thr) c.950T>C (p.Ile317Thr) c.4970T>C (p.Ile1657Thr) c.230T>C (p.Ile77Thr) c.94-353T>C (n.94-353T>C) n.336-148000T>C c.4958T>C (p.Ile1653Thr) c.4613T>C (p.Ile1538Thr) c.959T>C (p.Ile320Thr) c.4853T>C (p.Ile1618Thr) | |
X | g.32365063A>T | CA412671890 | DMD | c.4982T>A (p.Ile1661Lys) c.950T>A (p.Ile317Lys) c.4970T>A (p.Ile1657Lys) c.230T>A (p.Ile77Lys) c.94-353T>A (n.94-353T>A) n.336-148000T>A c.4958T>A (p.Ile1653Lys) c.4613T>A (p.Ile1538Lys) c.959T>A (p.Ile320Lys) c.4853T>A (p.Ile1618Lys) | |
X | g.32365064T>A | CA412671895 | DMD | c.4981A>T (p.Ile1661Leu) c.949A>T (p.Ile317Leu) c.4969A>T (p.Ile1657Leu) c.229A>T (p.Ile77Leu) c.94-354A>T (n.94-354A>T) n.336-148001A>T c.4957A>T (p.Ile1653Leu) c.4612A>T (p.Ile1538Leu) c.958A>T (p.Ile320Leu) c.4852A>T (p.Ile1618Leu) | |
X | g.32365064T>C | CA10378813 | DMD | c.4981A>G (p.Ile1661Val) c.949A>G (p.Ile317Val) c.4969A>G (p.Ile1657Val) c.229A>G (p.Ile77Val) c.94-354A>G (n.94-354A>G) n.336-148001A>G c.4957A>G (p.Ile1653Val) c.4612A>G (p.Ile1538Val) c.958A>G (p.Ile320Val) c.4852A>G (p.Ile1618Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365064T>G | CA412671892 | DMD | c.4981A>C (p.Ile1661Leu) c.949A>C (p.Ile317Leu) c.4969A>C (p.Ile1657Leu) c.229A>C (p.Ile77Leu) c.94-354A>C (n.94-354A>C) n.336-148001A>C c.4957A>C (p.Ile1653Leu) c.4612A>C (p.Ile1538Leu) c.958A>C (p.Ile320Leu) c.4852A>C (p.Ile1618Leu) | |
X | g.32365064T= | CA2422770111 | DMD | c.4981A= (p.Ile1661=) c.949A= (p.Ile317=) c.4969A= (p.Ile1657=) c.229A= (p.Ile77=) c.94-354A= (n.94-354A=) n.336-148001A= c.4957A= (p.Ile1653=) c.4612A= (p.Ile1538=) c.958A= (p.Ile320=) c.4852A= (p.Ile1618=) | |
X | g.32365065C>A | CA412671898 | DMD | c.4980G>T (p.Trp1660Cys) c.948G>T (p.Trp316Cys) c.4968G>T (p.Trp1656Cys) c.228G>T (p.Trp76Cys) c.94-355G>T (n.94-355G>T) n.336-148002G>T c.4956G>T (p.Trp1652Cys) c.4611G>T (p.Trp1537Cys) c.957G>T (p.Trp319Cys) c.4851G>T (p.Trp1617Cys) | dbSNP |
X | g.32365065C= | CA2422770112 | DMD | c.4980G= (p.Trp1660=) c.948G= (p.Trp316=) c.4968G= (p.Trp1656=) c.228G= (p.Trp76=) c.94-355G= (n.94-355G=) n.336-148002G= c.4956G= (p.Trp1652=) c.4611G= (p.Trp1537=) c.957G= (p.Trp319=) c.4851G= (p.Trp1617=) | |
X | g.32365065C>G | CA412671902 | DMD | c.4980G>C (p.Trp1660Cys) c.948G>C (p.Trp316Cys) c.4968G>C (p.Trp1656Cys) c.228G>C (p.Trp76Cys) c.94-355G>C (n.94-355G>C) n.336-148002G>C c.4956G>C (p.Trp1652Cys) c.4611G>C (p.Trp1537Cys) c.957G>C (p.Trp319Cys) c.4851G>C (p.Trp1617Cys) | |
X | g.32365065C>T | CA412671900 | DMD | c.4980G>A (p.Trp1660Ter) c.948G>A (p.Trp316Ter) c.4968G>A (p.Trp1656Ter) c.228G>A (p.Trp76Ter) c.94-355G>A (n.94-355G>A) n.336-148002G>A c.4956G>A (p.Trp1652Ter) c.4611G>A (p.Trp1537Ter) c.957G>A (p.Trp319Ter) c.4851G>A (p.Trp1617Ter) | ClinVar dbSNP |
X | g.32365066del | CA2695234107 | DMD | c.4980del (p.Trp1660Ter) c.948del (p.Trp316Ter) c.4968del (p.Trp1656Ter) c.228del (p.Trp76Ter) c.94-355del (n.94-355del) n.336-148002del c.4956del (p.Trp1652Ter) c.4611del (p.Trp1537Ter) c.957del (p.Trp319Ter) c.4851del (p.Trp1617Ter) | |
X | g.32365066C>A | CA412671905 | DMD | c.4979G>T (p.Trp1660Leu) c.947G>T (p.Trp316Leu) c.4967G>T (p.Trp1656Leu) c.227G>T (p.Trp76Leu) c.94-356G>T (n.94-356G>T) n.336-148003G>T c.4955G>T (p.Trp1652Leu) c.4610G>T (p.Trp1537Leu) c.956G>T (p.Trp319Leu) c.4850G>T (p.Trp1617Leu) | |
X | g.32365066C= | CA2422770113 | DMD | c.4979G= (p.Trp1660=) c.947G= (p.Trp316=) c.4967G= (p.Trp1656=) c.227G= (p.Trp76=) c.94-356G= (n.94-356G=) n.336-148003G= c.4955G= (p.Trp1652=) c.4610G= (p.Trp1537=) c.956G= (p.Trp319=) c.4850G= (p.Trp1617=) | |
X | g.32365066C>G | CA412671908 | DMD | c.4979G>C (p.Trp1660Ser) c.947G>C (p.Trp316Ser) c.4967G>C (p.Trp1656Ser) c.227G>C (p.Trp76Ser) c.94-356G>C (n.94-356G>C) n.336-148003G>C c.4955G>C (p.Trp1652Ser) c.4610G>C (p.Trp1537Ser) c.956G>C (p.Trp319Ser) c.4850G>C (p.Trp1617Ser) | |
X | g.32365066C>T | CA412671906 | DMD | c.4979G>A (p.Trp1660Ter) c.947G>A (p.Trp316Ter) c.4967G>A (p.Trp1656Ter) c.227G>A (p.Trp76Ter) c.94-356G>A (n.94-356G>A) n.336-148003G>A c.4955G>A (p.Trp1652Ter) c.4610G>A (p.Trp1537Ter) c.956G>A (p.Trp319Ter) c.4850G>A (p.Trp1617Ter) | ClinVar dbSNP |
X | g.32365067A>C | CA412671911 | DMD | c.4978T>G (p.Trp1660Gly) c.946T>G (p.Trp316Gly) c.4966T>G (p.Trp1656Gly) c.226T>G (p.Trp76Gly) c.94-357T>G (n.94-357T>G) n.336-148004T>G c.4954T>G (p.Trp1652Gly) c.4609T>G (p.Trp1537Gly) c.955T>G (p.Trp319Gly) c.4849T>G (p.Trp1617Gly) | |
X | g.32365067A>G | CA412671912 | DMD | c.4978T>C (p.Trp1660Arg) c.946T>C (p.Trp316Arg) c.4966T>C (p.Trp1656Arg) c.226T>C (p.Trp76Arg) c.94-357T>C (n.94-357T>C) n.336-148004T>C c.4954T>C (p.Trp1652Arg) c.4609T>C (p.Trp1537Arg) c.955T>C (p.Trp319Arg) c.4849T>C (p.Trp1617Arg) | |
X | g.32365067A>T | CA412671914 | DMD | c.4978T>A (p.Trp1660Arg) c.946T>A (p.Trp316Arg) c.4966T>A (p.Trp1656Arg) c.226T>A (p.Trp76Arg) c.94-357T>A (n.94-357T>A) n.336-148004T>A c.4954T>A (p.Trp1652Arg) c.4609T>A (p.Trp1537Arg) c.955T>A (p.Trp319Arg) c.4849T>A (p.Trp1617Arg) | |
X | g.32365068G>A | CA327995617 | DMD | c.4977C>T (p.Asn1659=) c.945C>T (p.Asn315=) c.4965C>T (p.Asn1655=) c.225C>T (p.Asn75=) c.94-358C>T (n.94-358C>T) n.336-148005C>T c.4953C>T (p.Asn1651=) c.4608C>T (p.Asn1536=) c.954C>T (p.Asn318=) c.4848C>T (p.Asn1616=) | dbSNP |
X | g.32365068G>C | CA412671917 | DMD | c.4977C>G (p.Asn1659Lys) c.945C>G (p.Asn315Lys) c.4965C>G (p.Asn1655Lys) c.225C>G (p.Asn75Lys) c.94-358C>G (n.94-358C>G) n.336-148005C>G c.4953C>G (p.Asn1651Lys) c.4608C>G (p.Asn1536Lys) c.954C>G (p.Asn318Lys) c.4848C>G (p.Asn1616Lys) | |
X | g.32365068G= | CA2422770114 | DMD | c.4977C= (p.Asn1659=) c.945C= (p.Asn315=) c.4965C= (p.Asn1655=) c.225C= (p.Asn75=) c.94-358C= (n.94-358C=) n.336-148005C= c.4953C= (p.Asn1651=) c.4608C= (p.Asn1536=) c.954C= (p.Asn318=) c.4848C= (p.Asn1616=) | |
X | g.32365068G>T | CA412671919 | DMD | c.4977C>A (p.Asn1659Lys) c.945C>A (p.Asn315Lys) c.4965C>A (p.Asn1655Lys) c.225C>A (p.Asn75Lys) c.94-358C>A (n.94-358C>A) n.336-148005C>A c.4953C>A (p.Asn1651Lys) c.4608C>A (p.Asn1536Lys) c.954C>A (p.Asn318Lys) c.4848C>A (p.Asn1616Lys) | |
X | g.32365069T>A | CA412671920 | DMD | c.4976A>T (p.Asn1659Ile) c.944A>T (p.Asn315Ile) c.4964A>T (p.Asn1655Ile) c.224A>T (p.Asn75Ile) c.94-359A>T (n.94-359A>T) n.336-148006A>T c.4952A>T (p.Asn1651Ile) c.4607A>T (p.Asn1536Ile) c.953A>T (p.Asn318Ile) c.4847A>T (p.Asn1616Ile) | |
X | g.32365069T>C | CA412671922 | DMD | c.4976A>G (p.Asn1659Ser) c.944A>G (p.Asn315Ser) c.4964A>G (p.Asn1655Ser) c.224A>G (p.Asn75Ser) c.94-359A>G (n.94-359A>G) n.336-148006A>G c.4952A>G (p.Asn1651Ser) c.4607A>G (p.Asn1536Ser) c.953A>G (p.Asn318Ser) c.4847A>G (p.Asn1616Ser) | ClinVar |
X | g.32365069T>G | CA412671923 | DMD | c.4976A>C (p.Asn1659Thr) c.944A>C (p.Asn315Thr) c.4964A>C (p.Asn1655Thr) c.224A>C (p.Asn75Thr) c.94-359A>C (n.94-359A>C) n.336-148006A>C c.4952A>C (p.Asn1651Thr) c.4607A>C (p.Asn1536Thr) c.953A>C (p.Asn318Thr) c.4847A>C (p.Asn1616Thr) | |
X | g.32365070dup | CA2695234108 | DMD | c.4976dup (p.Asn1659LysfsTer27) c.944dup (p.Asn315LysfsTer27) c.4964dup (p.Asn1655LysfsTer27) c.224dup (p.Asn75LysfsTer27) c.94-359dup (n.94-359dup) n.336-148006dup c.4952dup (p.Asn1651LysfsTer27) c.4607dup (p.Asn1536LysfsTer27) c.953dup (p.Asn318LysfsTer27) c.4847dup (p.Asn1616LysfsTer27) | |
X | g.32365070T>A | CA412671926 | DMD | c.4975A>T (p.Asn1659Tyr) c.943A>T (p.Asn315Tyr) c.4963A>T (p.Asn1655Tyr) c.223A>T (p.Asn75Tyr) c.94-360A>T (n.94-360A>T) n.336-148007A>T c.4951A>T (p.Asn1651Tyr) c.4606A>T (p.Asn1536Tyr) c.952A>T (p.Asn318Tyr) c.4846A>T (p.Asn1616Tyr) | |
X | g.32365070T>C | CA412671927 | DMD | c.4975A>G (p.Asn1659Asp) c.943A>G (p.Asn315Asp) c.4963A>G (p.Asn1655Asp) c.223A>G (p.Asn75Asp) c.94-360A>G (n.94-360A>G) n.336-148007A>G c.4951A>G (p.Asn1651Asp) c.4606A>G (p.Asn1536Asp) c.952A>G (p.Asn318Asp) c.4846A>G (p.Asn1616Asp) | |
X | g.32365070T>G | CA412671929 | DMD | c.4975A>C (p.Asn1659His) c.943A>C (p.Asn315His) c.4963A>C (p.Asn1655His) c.223A>C (p.Asn75His) c.94-360A>C (n.94-360A>C) n.336-148007A>C c.4951A>C (p.Asn1651His) c.4606A>C (p.Asn1536His) c.952A>C (p.Asn318His) c.4846A>C (p.Asn1616His) | |
X | g.32365071A>C | CA412671931 | DMD | c.4974T>G (p.Ser1658Arg) c.942T>G (p.Ser314Arg) c.4962T>G (p.Ser1654Arg) c.222T>G (p.Ser74Arg) c.94-361T>G (n.94-361T>G) n.336-148008T>G c.4950T>G (p.Ser1650Arg) c.4605T>G (p.Ser1535Arg) c.951T>G (p.Ser317Arg) c.4845T>G (p.Ser1615Arg) | gnomAD v4 |
X | g.32365071A>G | CA515714771 | DMD | c.4974T>C (p.Ser1658=) c.942T>C (p.Ser314=) c.4962T>C (p.Ser1654=) c.222T>C (p.Ser74=) c.94-361T>C (n.94-361T>C) n.336-148008T>C c.4950T>C (p.Ser1650=) c.4605T>C (p.Ser1535=) c.951T>C (p.Ser317=) c.4845T>C (p.Ser1615=) | |
X | g.32365071A>T | CA412671933 | DMD | c.4974T>A (p.Ser1658Arg) c.942T>A (p.Ser314Arg) c.4962T>A (p.Ser1654Arg) c.222T>A (p.Ser74Arg) c.94-361T>A (n.94-361T>A) n.336-148008T>A c.4950T>A (p.Ser1650Arg) c.4605T>A (p.Ser1535Arg) c.951T>A (p.Ser317Arg) c.4845T>A (p.Ser1615Arg) | |
X | g.32365072C>A | CA412671935 | DMD | c.4973G>T (p.Ser1658Ile) c.941G>T (p.Ser314Ile) c.4961G>T (p.Ser1654Ile) c.221G>T (p.Ser74Ile) c.94-362G>T (n.94-362G>T) n.336-148009G>T c.4949G>T (p.Ser1650Ile) c.4604G>T (p.Ser1535Ile) c.950G>T (p.Ser317Ile) c.4844G>T (p.Ser1615Ile) | |
X | g.32365072C= | CA2422770115 | DMD | c.4973G= (p.Ser1658=) c.941G= (p.Ser314=) c.4961G= (p.Ser1654=) c.221G= (p.Ser74=) c.94-362G= (n.94-362G=) n.336-148009G= c.4949G= (p.Ser1650=) c.4604G= (p.Ser1535=) c.950G= (p.Ser317=) c.4844G= (p.Ser1615=) | |
X | g.32365072C>G | CA412671937 | DMD | c.4973G>C (p.Ser1658Thr) c.941G>C (p.Ser314Thr) c.4961G>C (p.Ser1654Thr) c.221G>C (p.Ser74Thr) c.94-362G>C (n.94-362G>C) n.336-148009G>C c.4949G>C (p.Ser1650Thr) c.4604G>C (p.Ser1535Thr) c.950G>C (p.Ser317Thr) c.4844G>C (p.Ser1615Thr) | |
X | g.32365072C>T | CA308352 | DMD | c.4973G>A (p.Ser1658Asn) c.941G>A (p.Ser314Asn) c.4961G>A (p.Ser1654Asn) c.221G>A (p.Ser74Asn) c.94-362G>A (n.94-362G>A) n.336-148009G>A c.4949G>A (p.Ser1650Asn) c.4604G>A (p.Ser1535Asn) c.950G>A (p.Ser317Asn) c.4844G>A (p.Ser1615Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32365073T>A | CA412671940 | DMD | c.4972A>T (p.Ser1658Cys) c.940A>T (p.Ser314Cys) c.4960A>T (p.Ser1654Cys) c.220A>T (p.Ser74Cys) c.94-363A>T (n.94-363A>T) n.336-148010A>T c.4948A>T (p.Ser1650Cys) c.4603A>T (p.Ser1535Cys) c.949A>T (p.Ser317Cys) c.4843A>T (p.Ser1615Cys) | gnomAD v4 |
X | g.32365073T>C | CA412671942 | DMD | c.4972A>G (p.Ser1658Gly) c.940A>G (p.Ser314Gly) c.4960A>G (p.Ser1654Gly) c.220A>G (p.Ser74Gly) c.94-363A>G (n.94-363A>G) n.336-148010A>G c.4948A>G (p.Ser1650Gly) c.4603A>G (p.Ser1535Gly) c.949A>G (p.Ser317Gly) c.4843A>G (p.Ser1615Gly) | |
X | g.32365073T>G | CA412671944 | DMD | c.4972A>C (p.Ser1658Arg) c.940A>C (p.Ser314Arg) c.4960A>C (p.Ser1654Arg) c.220A>C (p.Ser74Arg) c.94-363A>C (n.94-363A>C) n.336-148010A>C c.4948A>C (p.Ser1650Arg) c.4603A>C (p.Ser1535Arg) c.949A>C (p.Ser317Arg) c.4843A>C (p.Ser1615Arg) | |
X | g.32365073T= | CA2422770116 | DMD | c.4972A= (p.Ser1658=) c.940A= (p.Ser314=) c.4960A= (p.Ser1654=) c.220A= (p.Ser74=) c.94-363A= (n.94-363A=) n.336-148010A= c.4948A= (p.Ser1650=) c.4603A= (p.Ser1535=) c.949A= (p.Ser317=) c.4843A= (p.Ser1615=) | |
X | g.32365074A>C | CA412671949 | DMD | c.4971T>G (p.Asn1657Lys) c.939T>G (p.Asn313Lys) c.4959T>G (p.Asn1653Lys) c.219T>G (p.Asn73Lys) c.94-364T>G (n.94-364T>G) n.336-148011T>G c.4947T>G (p.Asn1649Lys) c.4602T>G (p.Asn1534Lys) c.948T>G (p.Asn316Lys) c.4842T>G (p.Asn1614Lys) | |
X | g.32365074A>G | CA515714772 | DMD | c.4971T>C (p.Asn1657=) c.939T>C (p.Asn313=) c.4959T>C (p.Asn1653=) c.219T>C (p.Asn73=) c.94-364T>C (n.94-364T>C) n.336-148011T>C c.4947T>C (p.Asn1649=) c.4602T>C (p.Asn1534=) c.948T>C (p.Asn316=) c.4842T>C (p.Asn1614=) | |
X | g.32365074A>T | CA412671951 | DMD | c.4971T>A (p.Asn1657Lys) c.939T>A (p.Asn313Lys) c.4959T>A (p.Asn1653Lys) c.219T>A (p.Asn73Lys) c.94-364T>A (n.94-364T>A) n.336-148011T>A c.4947T>A (p.Asn1649Lys) c.4602T>A (p.Asn1534Lys) c.948T>A (p.Asn316Lys) c.4842T>A (p.Asn1614Lys) | |
X | g.32365075_32365120dup | CA267045 | DMD | c.4926_4971dup (p.Ser1658GlyfsTer10) c.894_939dup (p.Ser314GlyfsTer10) c.4914_4959dup (p.Ser1654GlyfsTer10) c.174_219dup (p.Ser74GlyfsTer10) c.94-409_94-364dup (n.94-409_94-364dup) n.336-148056_336-148011dup c.4902_4947dup (p.Ser1650GlyfsTer10) c.4557_4602dup (p.Ser1535GlyfsTer10) c.903_948dup (p.Ser317GlyfsTer10) c.4797_4842dup (p.Ser1615GlyfsTer10) | dbSNP |
X | g.32365075T>A | CA412671956 | DMD | c.4970A>T (p.Asn1657Ile) c.938A>T (p.Asn313Ile) c.4958A>T (p.Asn1653Ile) c.218A>T (p.Asn73Ile) c.94-365A>T (n.94-365A>T) n.336-148012A>T c.4946A>T (p.Asn1649Ile) c.4601A>T (p.Asn1534Ile) c.947A>T (p.Asn316Ile) c.4841A>T (p.Asn1614Ile) | dbSNP |
X | g.32365075T>C | CA412671958 | DMD | c.4970A>G (p.Asn1657Ser) c.938A>G (p.Asn313Ser) c.4958A>G (p.Asn1653Ser) c.218A>G (p.Asn73Ser) c.94-365A>G (n.94-365A>G) n.336-148012A>G c.4946A>G (p.Asn1649Ser) c.4601A>G (p.Asn1534Ser) c.947A>G (p.Asn316Ser) c.4841A>G (p.Asn1614Ser) | |
X | g.32365075T>G | CA412671954 | DMD | c.4970A>C (p.Asn1657Thr) c.938A>C (p.Asn313Thr) c.4958A>C (p.Asn1653Thr) c.218A>C (p.Asn73Thr) c.94-365A>C (n.94-365A>C) n.336-148012A>C c.4946A>C (p.Asn1649Thr) c.4601A>C (p.Asn1534Thr) c.947A>C (p.Asn316Thr) c.4841A>C (p.Asn1614Thr) | ClinVar gnomAD v4 |
X | g.32365075T= | CA2422770117 | DMD | c.4970A= (p.Asn1657=) c.938A= (p.Asn313=) c.4958A= (p.Asn1653=) c.218A= (p.Asn73=) c.94-365A= (n.94-365A=) n.336-148012A= c.4946A= (p.Asn1649=) c.4601A= (p.Asn1534=) c.947A= (p.Asn316=) c.4841A= (p.Asn1614=) | |
X | g.32365076T>A | CA412671961 | DMD | c.4969A>T (p.Asn1657Tyr) c.937A>T (p.Asn313Tyr) c.4957A>T (p.Asn1653Tyr) c.217A>T (p.Asn73Tyr) c.94-366A>T (n.94-366A>T) n.336-148013A>T c.4945A>T (p.Asn1649Tyr) c.4600A>T (p.Asn1534Tyr) c.946A>T (p.Asn316Tyr) c.4840A>T (p.Asn1614Tyr) | |
X | g.32365076T>C | CA412671962 | DMD | c.4969A>G (p.Asn1657Asp) c.937A>G (p.Asn313Asp) c.4957A>G (p.Asn1653Asp) c.217A>G (p.Asn73Asp) c.94-366A>G (n.94-366A>G) n.336-148013A>G c.4945A>G (p.Asn1649Asp) c.4600A>G (p.Asn1534Asp) c.946A>G (p.Asn316Asp) c.4840A>G (p.Asn1614Asp) | |
X | g.32365076T>G | CA412671963 | DMD | c.4969A>C (p.Asn1657His) c.937A>C (p.Asn313His) c.4957A>C (p.Asn1653His) c.217A>C (p.Asn73His) c.94-366A>C (n.94-366A>C) n.336-148013A>C c.4945A>C (p.Asn1649His) c.4600A>C (p.Asn1534His) c.946A>C (p.Asn316His) c.4840A>C (p.Asn1614His) | gnomAD v4 |
X | g.32365077C>A | CA515714773 | DMD | c.4968G>T (p.Leu1656=) c.936G>T (p.Leu312=) c.4956G>T (p.Leu1652=) c.216G>T (p.Leu72=) c.94-367G>T (n.94-367G>T) n.336-148014G>T c.4944G>T (p.Leu1648=) c.4599G>T (p.Leu1533=) c.945G>T (p.Leu315=) c.4839G>T (p.Leu1613=) | |
X | g.32365077C>G | CA515714774 | DMD | c.4968G>C (p.Leu1656=) c.936G>C (p.Leu312=) c.4956G>C (p.Leu1652=) c.216G>C (p.Leu72=) c.94-367G>C (n.94-367G>C) n.336-148014G>C c.4944G>C (p.Leu1648=) c.4599G>C (p.Leu1533=) c.945G>C (p.Leu315=) c.4839G>C (p.Leu1613=) | |
X | g.32365077C>T | CA515714775 | DMD | c.4968G>A (p.Leu1656=) c.936G>A (p.Leu312=) c.4956G>A (p.Leu1652=) c.216G>A (p.Leu72=) c.94-367G>A (n.94-367G>A) n.336-148014G>A c.4944G>A (p.Leu1648=) c.4599G>A (p.Leu1533=) c.945G>A (p.Leu315=) c.4839G>A (p.Leu1613=) | |
X | g.32365078A= | CA2422770118 | DMD | c.4967T= (p.Leu1656=) c.935T= (p.Leu312=) c.4955T= (p.Leu1652=) c.215T= (p.Leu72=) c.94-368T= (n.94-368T=) n.336-148015T= c.4943T= (p.Leu1648=) c.4598T= (p.Leu1533=) c.944T= (p.Leu315=) c.4838T= (p.Leu1613=) | |
X | g.32365078A>C | CA412671965 | DMD | c.4967T>G (p.Leu1656Arg) c.935T>G (p.Leu312Arg) c.4955T>G (p.Leu1652Arg) c.215T>G (p.Leu72Arg) c.94-368T>G (n.94-368T>G) n.336-148015T>G c.4943T>G (p.Leu1648Arg) c.4598T>G (p.Leu1533Arg) c.944T>G (p.Leu315Arg) c.4838T>G (p.Leu1613Arg) | |
X | g.32365078A>G | CA412671966 | DMD | c.4967T>C (p.Leu1656Pro) c.935T>C (p.Leu312Pro) c.4955T>C (p.Leu1652Pro) c.215T>C (p.Leu72Pro) c.94-368T>C (n.94-368T>C) n.336-148015T>C c.4943T>C (p.Leu1648Pro) c.4598T>C (p.Leu1533Pro) c.944T>C (p.Leu315Pro) c.4838T>C (p.Leu1613Pro) | |
X | g.32365078A>T | CA412671968 | DMD | c.4967T>A (p.Leu1656Gln) c.935T>A (p.Leu312Gln) c.4955T>A (p.Leu1652Gln) c.215T>A (p.Leu72Gln) c.94-368T>A (n.94-368T>A) n.336-148015T>A c.4943T>A (p.Leu1648Gln) c.4598T>A (p.Leu1533Gln) c.944T>A (p.Leu315Gln) c.4838T>A (p.Leu1613Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32365079G>A | CA515714776 | DMD | c.4966C>T (p.Leu1656=) c.934C>T (p.Leu312=) c.4954C>T (p.Leu1652=) c.214C>T (p.Leu72=) c.94-369C>T (n.94-369C>T) n.336-148016C>T c.4942C>T (p.Leu1648=) c.4597C>T (p.Leu1533=) c.943C>T (p.Leu315=) c.4837C>T (p.Leu1613=) | |
X | g.32365079G>C | CA412671970 | DMD | c.4966C>G (p.Leu1656Val) c.934C>G (p.Leu312Val) c.4954C>G (p.Leu1652Val) c.214C>G (p.Leu72Val) c.94-369C>G (n.94-369C>G) n.336-148016C>G c.4942C>G (p.Leu1648Val) c.4597C>G (p.Leu1533Val) c.943C>G (p.Leu315Val) c.4837C>G (p.Leu1613Val) | |
X | g.32365079G>T | CA412671972 | DMD | c.4966C>A (p.Leu1656Met) c.934C>A (p.Leu312Met) c.4954C>A (p.Leu1652Met) c.214C>A (p.Leu72Met) c.94-369C>A (n.94-369C>A) n.336-148016C>A c.4942C>A (p.Leu1648Met) c.4597C>A (p.Leu1533Met) c.943C>A (p.Leu315Met) c.4837C>A (p.Leu1613Met) | |
X | g.32365080A>C | CA515714777 | DMD | c.4965T>G (p.Leu1655=) c.933T>G (p.Leu311=) c.4953T>G (p.Leu1651=) c.213T>G (p.Leu71=) c.94-370T>G (n.94-370T>G) n.336-148017T>G c.4941T>G (p.Leu1647=) c.4596T>G (p.Leu1532=) c.942T>G (p.Leu314=) c.4836T>G (p.Leu1612=) | |
X | g.32365080A>G | CA515714778 | DMD | c.4965T>C (p.Leu1655=) c.933T>C (p.Leu311=) c.4953T>C (p.Leu1651=) c.213T>C (p.Leu71=) c.94-370T>C (n.94-370T>C) n.336-148017T>C c.4941T>C (p.Leu1647=) c.4596T>C (p.Leu1532=) c.942T>C (p.Leu314=) c.4836T>C (p.Leu1612=) | |
X | g.32365080A>T | CA515714779 | DMD | c.4965T>A (p.Leu1655=) c.933T>A (p.Leu311=) c.4953T>A (p.Leu1651=) c.213T>A (p.Leu71=) c.94-370T>A (n.94-370T>A) n.336-148017T>A c.4941T>A (p.Leu1647=) c.4596T>A (p.Leu1532=) c.942T>A (p.Leu314=) c.4836T>A (p.Leu1612=) | |
X | g.32365081A>C | CA412671974 | DMD | c.4964T>G (p.Leu1655Arg) c.932T>G (p.Leu311Arg) c.4952T>G (p.Leu1651Arg) c.212T>G (p.Leu71Arg) c.94-371T>G (n.94-371T>G) n.336-148018T>G c.4940T>G (p.Leu1647Arg) c.4595T>G (p.Leu1532Arg) c.941T>G (p.Leu314Arg) c.4835T>G (p.Leu1612Arg) | |
X | g.32365081A>G | CA412671976 | DMD | c.4964T>C (p.Leu1655Pro) c.932T>C (p.Leu311Pro) c.4952T>C (p.Leu1651Pro) c.212T>C (p.Leu71Pro) c.94-371T>C (n.94-371T>C) n.336-148018T>C c.4940T>C (p.Leu1647Pro) c.4595T>C (p.Leu1532Pro) c.941T>C (p.Leu314Pro) c.4835T>C (p.Leu1612Pro) | |
X | g.32365081A>T | CA412671978 | DMD | c.4964T>A (p.Leu1655His) c.932T>A (p.Leu311His) c.4952T>A (p.Leu1651His) c.212T>A (p.Leu71His) c.94-371T>A (n.94-371T>A) n.336-148018T>A c.4940T>A (p.Leu1647His) c.4595T>A (p.Leu1532His) c.941T>A (p.Leu314His) c.4835T>A (p.Leu1612His) | |
X | g.32365082G>A | CA412671981 | DMD | c.4963C>T (p.Leu1655Phe) c.931C>T (p.Leu311Phe) c.4951C>T (p.Leu1651Phe) c.211C>T (p.Leu71Phe) c.94-372C>T (n.94-372C>T) n.336-148019C>T c.4939C>T (p.Leu1647Phe) c.4594C>T (p.Leu1532Phe) c.940C>T (p.Leu314Phe) c.4834C>T (p.Leu1612Phe) | |
X | g.32365082G>C | CA412671983 | DMD | c.4963C>G (p.Leu1655Val) c.931C>G (p.Leu311Val) c.4951C>G (p.Leu1651Val) c.211C>G (p.Leu71Val) c.94-372C>G (n.94-372C>G) n.336-148019C>G c.4939C>G (p.Leu1647Val) c.4594C>G (p.Leu1532Val) c.940C>G (p.Leu314Val) c.4834C>G (p.Leu1612Val) | |
X | g.32365082G>T | CA412671980 | DMD | c.4963C>A (p.Leu1655Ile) c.931C>A (p.Leu311Ile) c.4951C>A (p.Leu1651Ile) c.211C>A (p.Leu71Ile) c.94-372C>A (n.94-372C>A) n.336-148019C>A c.4939C>A (p.Leu1647Ile) c.4594C>A (p.Leu1532Ile) c.940C>A (p.Leu314Ile) c.4834C>A (p.Leu1612Ile) | |
X | g.32365083A>C | CA412671985 | DMD | c.4962T>G (p.Ser1654Arg) c.930T>G (p.Ser310Arg) c.4950T>G (p.Ser1650Arg) c.210T>G (p.Ser70Arg) c.94-373T>G (n.94-373T>G) n.336-148020T>G c.4938T>G (p.Ser1646Arg) c.4593T>G (p.Ser1531Arg) c.939T>G (p.Ser313Arg) c.4833T>G (p.Ser1611Arg) | |
X | g.32365083A>G | CA515714780 | DMD | c.4962T>C (p.Ser1654=) c.930T>C (p.Ser310=) c.4950T>C (p.Ser1650=) c.210T>C (p.Ser70=) c.94-373T>C (n.94-373T>C) n.336-148020T>C c.4938T>C (p.Ser1646=) c.4593T>C (p.Ser1531=) c.939T>C (p.Ser313=) c.4833T>C (p.Ser1611=) | |
X | g.32365083A>T | CA412671986 | DMD | c.4962T>A (p.Ser1654Arg) c.930T>A (p.Ser310Arg) c.4950T>A (p.Ser1650Arg) c.210T>A (p.Ser70Arg) c.94-373T>A (n.94-373T>A) n.336-148020T>A c.4938T>A (p.Ser1646Arg) c.4593T>A (p.Ser1531Arg) c.939T>A (p.Ser313Arg) c.4833T>A (p.Ser1611Arg) | |
X | g.32365084del | CA2580100630 | DMD | c.4961del (p.Ser1654IlefsTer3) c.929del (p.Ser310IlefsTer3) c.4949del (p.Ser1650IlefsTer3) c.209del (p.Ser70IlefsTer3) c.94-374del (n.94-374del) n.336-148021del c.4937del (p.Ser1646IlefsTer3) c.4592del (p.Ser1531IlefsTer3) c.938del (p.Ser313IlefsTer3) c.4832del (p.Ser1611IlefsTer3) | ClinVar |
X | g.32365084C>A | CA412671987 | DMD | c.4961G>T (p.Ser1654Ile) c.929G>T (p.Ser310Ile) c.4949G>T (p.Ser1650Ile) c.209G>T (p.Ser70Ile) c.94-374G>T (n.94-374G>T) n.336-148021G>T c.4937G>T (p.Ser1646Ile) c.4592G>T (p.Ser1531Ile) c.938G>T (p.Ser313Ile) c.4832G>T (p.Ser1611Ile) | |
X | g.32365084C>G | CA412671989 | DMD | c.4961G>C (p.Ser1654Thr) c.929G>C (p.Ser310Thr) c.4949G>C (p.Ser1650Thr) c.209G>C (p.Ser70Thr) c.94-374G>C (n.94-374G>C) n.336-148021G>C c.4937G>C (p.Ser1646Thr) c.4592G>C (p.Ser1531Thr) c.938G>C (p.Ser313Thr) c.4832G>C (p.Ser1611Thr) | |
X | g.32365084C>T | CA412671990 | DMD | c.4961G>A (p.Ser1654Asn) c.929G>A (p.Ser310Asn) c.4949G>A (p.Ser1650Asn) c.209G>A (p.Ser70Asn) c.94-374G>A (n.94-374G>A) n.336-148021G>A c.4937G>A (p.Ser1646Asn) c.4592G>A (p.Ser1531Asn) c.938G>A (p.Ser313Asn) c.4832G>A (p.Ser1611Asn) | |
X | g.32365085T>A | CA412671994 | DMD | c.4960A>T (p.Ser1654Cys) c.928A>T (p.Ser310Cys) c.4948A>T (p.Ser1650Cys) c.208A>T (p.Ser70Cys) c.94-375A>T (n.94-375A>T) n.336-148022A>T c.4936A>T (p.Ser1646Cys) c.4591A>T (p.Ser1531Cys) c.937A>T (p.Ser313Cys) c.4831A>T (p.Ser1611Cys) | |
X | g.32365085T>C | CA412671991 | DMD | c.4960A>G (p.Ser1654Gly) c.928A>G (p.Ser310Gly) c.4948A>G (p.Ser1650Gly) c.208A>G (p.Ser70Gly) c.94-375A>G (n.94-375A>G) n.336-148022A>G c.4936A>G (p.Ser1646Gly) c.4591A>G (p.Ser1531Gly) c.937A>G (p.Ser313Gly) c.4831A>G (p.Ser1611Gly) | ClinVar dbSNP |
X | g.32365085T>G | CA412671992 | DMD | c.4960A>C (p.Ser1654Arg) c.928A>C (p.Ser310Arg) c.4948A>C (p.Ser1650Arg) c.208A>C (p.Ser70Arg) c.94-375A>C (n.94-375A>C) n.336-148022A>C c.4936A>C (p.Ser1646Arg) c.4591A>C (p.Ser1531Arg) c.937A>C (p.Ser313Arg) c.4831A>C (p.Ser1611Arg) | |
X | g.32365085dup | CA2695234110 | DMD | c.4960dup (p.Ser1654LysfsTer5) c.928dup (p.Ser310LysfsTer5) c.4948dup (p.Ser1650LysfsTer5) c.208dup (p.Ser70LysfsTer5) c.94-375dup (n.94-375dup) n.336-148022dup c.4936dup (p.Ser1646LysfsTer5) c.4591dup (p.Ser1531LysfsTer5) c.937dup (p.Ser313LysfsTer5) c.4831dup (p.Ser1611LysfsTer5) | |
X | g.32365085_32365086del | CA2695234109 | DMD | c.4959_4960del (p.Leu1655SerfsTer3) c.927_928del (p.Leu311SerfsTer3) c.4947_4948del (p.Leu1651SerfsTer3) c.207_208del (p.Leu71SerfsTer3) c.94-376_94-375del (n.94-376_94-375del) n.336-148023_336-148022del c.4935_4936del (p.Leu1647SerfsTer3) c.4590_4591del (p.Leu1532SerfsTer3) c.936_937del (p.Leu314SerfsTer3) c.4830_4831del (p.Leu1612SerfsTer3) | |
X | g.32365086G>A | CA515714781 | DMD | c.4959C>T (p.Leu1653=) c.927C>T (p.Leu309=) c.4947C>T (p.Leu1649=) c.207C>T (p.Leu69=) c.94-376C>T (n.94-376C>T) n.336-148023C>T c.4935C>T (p.Leu1645=) c.4590C>T (p.Leu1530=) c.936C>T (p.Leu312=) c.4830C>T (p.Leu1610=) | COSMIC COSMIC COSMIC COSMIC |
X | g.32365086G>C | CA327995640 | DMD | c.4959C>G (p.Leu1653=) c.927C>G (p.Leu309=) c.4947C>G (p.Leu1649=) c.207C>G (p.Leu69=) c.94-376C>G (n.94-376C>G) n.336-148023C>G c.4935C>G (p.Leu1645=) c.4590C>G (p.Leu1530=) c.936C>G (p.Leu312=) c.4830C>G (p.Leu1610=) | dbSNP |
X | g.32365086G= | CA2422770119 | DMD | c.4959C= (p.Leu1653=) c.927C= (p.Leu309=) c.4947C= (p.Leu1649=) c.207C= (p.Leu69=) c.94-376C= (n.94-376C=) n.336-148023C= c.4935C= (p.Leu1645=) c.4590C= (p.Leu1530=) c.936C= (p.Leu312=) c.4830C= (p.Leu1610=) | |
X | g.32365086G>T | CA515714782 | DMD | c.4959C>A (p.Leu1653=) c.927C>A (p.Leu309=) c.4947C>A (p.Leu1649=) c.207C>A (p.Leu69=) c.94-376C>A (n.94-376C>A) n.336-148023C>A c.4935C>A (p.Leu1645=) c.4590C>A (p.Leu1530=) c.936C>A (p.Leu312=) c.4830C>A (p.Leu1610=) | |
X | g.32365087_32365088del | CA2695238934 | DMD | c.4958_4959del (p.Leu1653GlnfsTer5) c.926_927del (p.Leu309GlnfsTer5) c.4946_4947del (p.Leu1649GlnfsTer5) c.206_207del (p.Leu69GlnfsTer5) c.94-377_94-376del (n.94-377_94-376del) n.336-148024_336-148023del c.4934_4935del (p.Leu1645GlnfsTer5) c.4589_4590del (p.Leu1530GlnfsTer5) c.935_936del (p.Leu312GlnfsTer5) c.4829_4830del (p.Leu1610GlnfsTer5) | |
X | g.32365087A>C | CA412671996 | DMD | c.4958T>G (p.Leu1653Arg) c.926T>G (p.Leu309Arg) c.4946T>G (p.Leu1649Arg) c.206T>G (p.Leu69Arg) c.94-377T>G (n.94-377T>G) n.336-148024T>G c.4934T>G (p.Leu1645Arg) c.4589T>G (p.Leu1530Arg) c.935T>G (p.Leu312Arg) c.4829T>G (p.Leu1610Arg) | |
X | g.32365087A>G | CA412671998 | DMD | c.4958T>C (p.Leu1653Pro) c.926T>C (p.Leu309Pro) c.4946T>C (p.Leu1649Pro) c.206T>C (p.Leu69Pro) c.94-377T>C (n.94-377T>C) n.336-148024T>C c.4934T>C (p.Leu1645Pro) c.4589T>C (p.Leu1530Pro) c.935T>C (p.Leu312Pro) c.4829T>C (p.Leu1610Pro) | |
X | g.32365087A>T | CA412672000 | DMD | c.4958T>A (p.Leu1653His) c.926T>A (p.Leu309His) c.4946T>A (p.Leu1649His) c.206T>A (p.Leu69His) c.94-377T>A (n.94-377T>A) n.336-148024T>A c.4934T>A (p.Leu1645His) c.4589T>A (p.Leu1530His) c.935T>A (p.Leu312His) c.4829T>A (p.Leu1610His) | COSMIC COSMIC COSMIC COSMIC |
X | g.32365088G>A | CA412672002 | DMD | c.4957C>T (p.Leu1653Phe) c.925C>T (p.Leu309Phe) c.4945C>T (p.Leu1649Phe) c.205C>T (p.Leu69Phe) c.94-378C>T (n.94-378C>T) n.336-148025C>T c.4933C>T (p.Leu1645Phe) c.4588C>T (p.Leu1530Phe) c.934C>T (p.Leu312Phe) c.4828C>T (p.Leu1610Phe) | gnomAD v4 |
X | g.32365088G>C | CA412672003 | DMD | c.4957C>G (p.Leu1653Val) c.925C>G (p.Leu309Val) c.4945C>G (p.Leu1649Val) c.205C>G (p.Leu69Val) c.94-378C>G (n.94-378C>G) n.336-148025C>G c.4933C>G (p.Leu1645Val) c.4588C>G (p.Leu1530Val) c.934C>G (p.Leu312Val) c.4828C>G (p.Leu1610Val) | |
X | g.32365088G>T | CA412672005 | DMD | c.4957C>A (p.Leu1653Ile) c.925C>A (p.Leu309Ile) c.4945C>A (p.Leu1649Ile) c.205C>A (p.Leu69Ile) c.94-378C>A (n.94-378C>A) n.336-148025C>A c.4933C>A (p.Leu1645Ile) c.4588C>A (p.Leu1530Ile) c.934C>A (p.Leu312Ile) c.4828C>A (p.Leu1610Ile) | |
X | g.32365089T>A | CA412672010 | DMD | c.4956A>T (p.Lys1652Asn) c.924A>T (p.Lys308Asn) c.4944A>T (p.Lys1648Asn) c.204A>T (p.Lys68Asn) c.94-379A>T (n.94-379A>T) n.336-148026A>T c.4932A>T (p.Lys1644Asn) c.4587A>T (p.Lys1529Asn) c.933A>T (p.Lys311Asn) c.4827A>T (p.Lys1609Asn) | |
X | g.32365089T>C | CA515714783 | DMD | c.4956A>G (p.Lys1652=) c.924A>G (p.Lys308=) c.4944A>G (p.Lys1648=) c.204A>G (p.Lys68=) c.94-379A>G (n.94-379A>G) n.336-148026A>G c.4932A>G (p.Lys1644=) c.4587A>G (p.Lys1529=) c.933A>G (p.Lys311=) c.4827A>G (p.Lys1609=) | |
X | g.32365089T>G | CA412672008 | DMD | c.4956A>C (p.Lys1652Asn) c.924A>C (p.Lys308Asn) c.4944A>C (p.Lys1648Asn) c.204A>C (p.Lys68Asn) c.94-379A>C (n.94-379A>C) n.336-148026A>C c.4932A>C (p.Lys1644Asn) c.4587A>C (p.Lys1529Asn) c.933A>C (p.Lys311Asn) c.4827A>C (p.Lys1609Asn) | |
X | g.32365091dup | CA2695234111 | DMD | c.4956dup (p.Leu1653ThrfsTer6) c.924dup (p.Leu309ThrfsTer6) c.4944dup (p.Leu1649ThrfsTer6) c.204dup (p.Leu69ThrfsTer6) c.94-379dup (n.94-379dup) n.336-148026dup c.4932dup (p.Leu1645ThrfsTer6) c.4587dup (p.Leu1530ThrfsTer6) c.933dup (p.Leu312ThrfsTer6) c.4827dup (p.Leu1610ThrfsTer6) | |
X | g.32365090T>A | CA412672012 | DMD | c.4955A>T (p.Lys1652Ile) c.923A>T (p.Lys308Ile) c.4943A>T (p.Lys1648Ile) c.203A>T (p.Lys68Ile) c.94-380A>T (n.94-380A>T) n.336-148027A>T c.4931A>T (p.Lys1644Ile) c.4586A>T (p.Lys1529Ile) c.932A>T (p.Lys311Ile) c.4826A>T (p.Lys1609Ile) | |
X | g.32365090T>C | CA412672016 | DMD | c.4955A>G (p.Lys1652Arg) c.923A>G (p.Lys308Arg) c.4943A>G (p.Lys1648Arg) c.203A>G (p.Lys68Arg) c.94-380A>G (n.94-380A>G) n.336-148027A>G c.4931A>G (p.Lys1644Arg) c.4586A>G (p.Lys1529Arg) c.932A>G (p.Lys311Arg) c.4826A>G (p.Lys1609Arg) | |
X | g.32365090T>G | CA412672014 | DMD | c.4955A>C (p.Lys1652Thr) c.923A>C (p.Lys308Thr) c.4943A>C (p.Lys1648Thr) c.203A>C (p.Lys68Thr) c.94-380A>C (n.94-380A>C) n.336-148027A>C c.4931A>C (p.Lys1644Thr) c.4586A>C (p.Lys1529Thr) c.932A>C (p.Lys311Thr) c.4826A>C (p.Lys1609Thr) | |
X | g.32365091T>A | CA412672019 | DMD | c.4954A>T (p.Lys1652Ter) c.922A>T (p.Lys308Ter) c.4942A>T (p.Lys1648Ter) c.202A>T (p.Lys68Ter) c.94-381A>T (n.94-381A>T) n.336-148028A>T c.4930A>T (p.Lys1644Ter) c.4585A>T (p.Lys1529Ter) c.931A>T (p.Lys311Ter) c.4825A>T (p.Lys1609Ter) | dbSNP |
X | g.32365091T>C | CA412672021 | DMD | c.4954A>G (p.Lys1652Glu) c.922A>G (p.Lys308Glu) c.4942A>G (p.Lys1648Glu) c.202A>G (p.Lys68Glu) c.94-381A>G (n.94-381A>G) n.336-148028A>G c.4930A>G (p.Lys1644Glu) c.4585A>G (p.Lys1529Glu) c.931A>G (p.Lys311Glu) c.4825A>G (p.Lys1609Glu) | |
X | g.32365091T>G | CA412672023 | DMD | c.4954A>C (p.Lys1652Gln) c.922A>C (p.Lys308Gln) c.4942A>C (p.Lys1648Gln) c.202A>C (p.Lys68Gln) c.94-381A>C (n.94-381A>C) n.336-148028A>C c.4930A>C (p.Lys1644Gln) c.4585A>C (p.Lys1529Gln) c.931A>C (p.Lys311Gln) c.4825A>C (p.Lys1609Gln) | |
X | g.32365092A= | CA2422770120 | DMD | c.4953T= (p.Asp1651=) c.921T= (p.Asp307=) c.4941T= (p.Asp1647=) c.201T= (p.Asp67=) c.94-382T= (n.94-382T=) n.336-148029T= c.4929T= (p.Asp1643=) c.4584T= (p.Asp1528=) c.930T= (p.Asp310=) c.4824T= (p.Asp1608=) | |
X | g.32365092A>C | CA10378815 | DMD | c.4953T>G (p.Asp1651Glu) c.921T>G (p.Asp307Glu) c.4941T>G (p.Asp1647Glu) c.201T>G (p.Asp67Glu) c.94-382T>G (n.94-382T>G) n.336-148029T>G c.4929T>G (p.Asp1643Glu) c.4584T>G (p.Asp1528Glu) c.930T>G (p.Asp310Glu) c.4824T>G (p.Asp1608Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32365092A>G | CA10378814 | DMD | c.4953T>C (p.Asp1651=) c.921T>C (p.Asp307=) c.4941T>C (p.Asp1647=) c.201T>C (p.Asp67=) c.94-382T>C (n.94-382T>C) n.336-148029T>C c.4929T>C (p.Asp1643=) c.4584T>C (p.Asp1528=) c.930T>C (p.Asp310=) c.4824T>C (p.Asp1608=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365092A>T | CA412672026 | DMD | c.4953T>A (p.Asp1651Glu) c.921T>A (p.Asp307Glu) c.4941T>A (p.Asp1647Glu) c.201T>A (p.Asp67Glu) c.94-382T>A (n.94-382T>A) n.336-148029T>A c.4929T>A (p.Asp1643Glu) c.4584T>A (p.Asp1528Glu) c.930T>A (p.Asp310Glu) c.4824T>A (p.Asp1608Glu) | |
X | g.32365093T>A | CA412672028 | DMD | c.4952A>T (p.Asp1651Val) c.920A>T (p.Asp307Val) c.4940A>T (p.Asp1647Val) c.200A>T (p.Asp67Val) c.94-383A>T (n.94-383A>T) n.336-148030A>T c.4928A>T (p.Asp1643Val) c.4583A>T (p.Asp1528Val) c.929A>T (p.Asp310Val) c.4823A>T (p.Asp1608Val) | |
X | g.32365093T>C | CA412672030 | DMD | c.4952A>G (p.Asp1651Gly) c.920A>G (p.Asp307Gly) c.4940A>G (p.Asp1647Gly) c.200A>G (p.Asp67Gly) c.94-383A>G (n.94-383A>G) n.336-148030A>G c.4928A>G (p.Asp1643Gly) c.4583A>G (p.Asp1528Gly) c.929A>G (p.Asp310Gly) c.4823A>G (p.Asp1608Gly) | gnomAD v4 |
X | g.32365093T>G | CA412672032 | DMD | c.4952A>C (p.Asp1651Ala) c.920A>C (p.Asp307Ala) c.4940A>C (p.Asp1647Ala) c.200A>C (p.Asp67Ala) c.94-383A>C (n.94-383A>C) n.336-148030A>C c.4928A>C (p.Asp1643Ala) c.4583A>C (p.Asp1528Ala) c.929A>C (p.Asp310Ala) c.4823A>C (p.Asp1608Ala) | |
X | g.32365096_32365108del | CA2695234112 | DMD | c.4940_4952del (p.Thr1647IlefsTer6) c.908_920del (p.Thr303IlefsTer6) c.4928_4940del (p.Thr1643IlefsTer6) c.188_200del (p.Thr63IlefsTer6) c.94-395_94-383del (n.94-395_94-383del) n.336-148042_336-148030del c.4916_4928del (p.Thr1639IlefsTer6) c.4571_4583del (p.Thr1524IlefsTer6) c.917_929del (p.Thr306IlefsTer6) c.4811_4823del (p.Thr1604IlefsTer6) | |
X | g.32365094C>A | CA412672034 | DMD | c.4951G>T (p.Asp1651Tyr) c.919G>T (p.Asp307Tyr) c.4939G>T (p.Asp1647Tyr) c.199G>T (p.Asp67Tyr) c.94-384G>T (n.94-384G>T) n.336-148031G>T c.4927G>T (p.Asp1643Tyr) c.4582G>T (p.Asp1528Tyr) c.928G>T (p.Asp310Tyr) c.4822G>T (p.Asp1608Tyr) | COSMIC COSMIC COSMIC COSMIC |
X | g.32365094C= | CA2422770121 | DMD | c.4951G= (p.Asp1651=) c.919G= (p.Asp307=) c.4939G= (p.Asp1647=) c.199G= (p.Asp67=) c.94-384G= (n.94-384G=) n.336-148031G= c.4927G= (p.Asp1643=) c.4582G= (p.Asp1528=) c.928G= (p.Asp310=) c.4822G= (p.Asp1608=) | |
X | g.32365094C>G | CA412672036 | DMD | c.4951G>C (p.Asp1651His) c.919G>C (p.Asp307His) c.4939G>C (p.Asp1647His) c.199G>C (p.Asp67His) c.94-384G>C (n.94-384G>C) n.336-148031G>C c.4927G>C (p.Asp1643His) c.4582G>C (p.Asp1528His) c.928G>C (p.Asp310His) c.4822G>C (p.Asp1608His) | |
X | g.32365094C>T | CA412672038 | DMD | c.4951G>A (p.Asp1651Asn) c.919G>A (p.Asp307Asn) c.4939G>A (p.Asp1647Asn) c.199G>A (p.Asp67Asn) c.94-384G>A (n.94-384G>A) n.336-148031G>A c.4927G>A (p.Asp1643Asn) c.4582G>A (p.Asp1528Asn) c.928G>A (p.Asp310Asn) c.4822G>A (p.Asp1608Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.32365095T>A | CA412672042 | DMD | c.4950A>T (p.Glu1650Asp) c.918A>T (p.Glu306Asp) c.4938A>T (p.Glu1646Asp) c.198A>T (p.Glu66Asp) c.94-385A>T (n.94-385A>T) n.336-148032A>T c.4926A>T (p.Glu1642Asp) c.4581A>T (p.Glu1527Asp) c.927A>T (p.Glu309Asp) c.4821A>T (p.Glu1607Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32365095T>C | CA515714784 | DMD | c.4950A>G (p.Glu1650=) c.918A>G (p.Glu306=) c.4938A>G (p.Glu1646=) c.198A>G (p.Glu66=) c.94-385A>G (n.94-385A>G) n.336-148032A>G c.4926A>G (p.Glu1642=) c.4581A>G (p.Glu1527=) c.927A>G (p.Glu309=) c.4821A>G (p.Glu1607=) | |
X | g.32365095T>G | CA412672040 | DMD | c.4950A>C (p.Glu1650Asp) c.918A>C (p.Glu306Asp) c.4938A>C (p.Glu1646Asp) c.198A>C (p.Glu66Asp) c.94-385A>C (n.94-385A>C) n.336-148032A>C c.4926A>C (p.Glu1642Asp) c.4581A>C (p.Glu1527Asp) c.927A>C (p.Glu309Asp) c.4821A>C (p.Glu1607Asp) | |
X | g.32365095T= | CA2422770122 | DMD | c.4950A= (p.Glu1650=) c.918A= (p.Glu306=) c.4938A= (p.Glu1646=) c.198A= (p.Glu66=) c.94-385A= (n.94-385A=) n.336-148032A= c.4926A= (p.Glu1642=) c.4581A= (p.Glu1527=) c.927A= (p.Glu309=) c.4821A= (p.Glu1607=) | |
X | g.32365096T>A | CA412672044 | DMD | c.4949A>T (p.Glu1650Val) c.917A>T (p.Glu306Val) c.4937A>T (p.Glu1646Val) c.197A>T (p.Glu66Val) c.94-386A>T (n.94-386A>T) n.336-148033A>T c.4925A>T (p.Glu1642Val) c.4580A>T (p.Glu1527Val) c.926A>T (p.Glu309Val) c.4820A>T (p.Glu1607Val) | |
X | g.32365096T>C | CA412672045 | DMD | c.4949A>G (p.Glu1650Gly) c.917A>G (p.Glu306Gly) c.4937A>G (p.Glu1646Gly) c.197A>G (p.Glu66Gly) c.94-386A>G (n.94-386A>G) n.336-148033A>G c.4925A>G (p.Glu1642Gly) c.4580A>G (p.Glu1527Gly) c.926A>G (p.Glu309Gly) c.4820A>G (p.Glu1607Gly) | |
X | g.32365096T>G | CA412672048 | DMD | c.4949A>C (p.Glu1650Ala) c.917A>C (p.Glu306Ala) c.4937A>C (p.Glu1646Ala) c.197A>C (p.Glu66Ala) c.94-386A>C (n.94-386A>C) n.336-148033A>C c.4925A>C (p.Glu1642Ala) c.4580A>C (p.Glu1527Ala) c.926A>C (p.Glu309Ala) c.4820A>C (p.Glu1607Ala) | |
X | g.32365097C>A | CA412672050 | DMD | c.4948G>T (p.Glu1650Ter) c.916G>T (p.Glu306Ter) c.4936G>T (p.Glu1646Ter) c.196G>T (p.Glu66Ter) c.94-387G>T (n.94-387G>T) n.336-148034G>T c.4924G>T (p.Glu1642Ter) c.4579G>T (p.Glu1527Ter) c.925G>T (p.Glu309Ter) c.4819G>T (p.Glu1607Ter) | |
X | g.32365097C>G | CA412672051 | DMD | c.4948G>C (p.Glu1650Gln) c.916G>C (p.Glu306Gln) c.4936G>C (p.Glu1646Gln) c.196G>C (p.Glu66Gln) c.94-387G>C (n.94-387G>C) n.336-148034G>C c.4924G>C (p.Glu1642Gln) c.4579G>C (p.Glu1527Gln) c.925G>C (p.Glu309Gln) c.4819G>C (p.Glu1607Gln) | |
X | g.32365097C>T | CA412672053 | DMD | c.4948G>A (p.Glu1650Lys) c.916G>A (p.Glu306Lys) c.4936G>A (p.Glu1646Lys) c.196G>A (p.Glu66Lys) c.94-387G>A (n.94-387G>A) n.336-148034G>A c.4924G>A (p.Glu1642Lys) c.4579G>A (p.Glu1527Lys) c.925G>A (p.Glu309Lys) c.4819G>A (p.Glu1607Lys) | |
X | g.32365098del | CA2738490106 | DMD | c.4948del (p.Glu1650LysfsTer7) c.916del (p.Glu306LysfsTer7) c.4936del (p.Glu1646LysfsTer7) c.196del (p.Glu66LysfsTer7) c.94-387del (n.94-387del) n.336-148034del c.4924del (p.Glu1642LysfsTer7) c.4579del (p.Glu1527LysfsTer7) c.925del (p.Glu309LysfsTer7) c.4819del (p.Glu1607LysfsTer7) | dbSNP |
X | g.32365100_32365102del | CA2579579573 | DMD | c.4946_4948del (p.Val1649del) c.914_916del (p.Val305del) c.4934_4936del (p.Val1645del) c.194_196del (p.Val65del) c.94-389_94-387del (n.94-389_94-387del) n.336-148036_336-148034del c.4922_4924del (p.Val1641del) c.4577_4579del (p.Val1526del) c.923_925del (p.Val308del) c.4817_4819del (p.Val1606del) | |
X | g.32365098C>A | CA515714785 | DMD | c.4947G>T (p.Val1649=) c.915G>T (p.Val305=) c.4935G>T (p.Val1645=) c.195G>T (p.Val65=) c.94-388G>T (n.94-388G>T) n.336-148035G>T c.4923G>T (p.Val1641=) c.4578G>T (p.Val1526=) c.924G>T (p.Val308=) c.4818G>T (p.Val1606=) | dbSNP |
X | g.32365098C>G | CA515714787 | DMD | c.4947G>C (p.Val1649=) c.915G>C (p.Val305=) c.4935G>C (p.Val1645=) c.195G>C (p.Val65=) c.94-388G>C (n.94-388G>C) n.336-148035G>C c.4923G>C (p.Val1641=) c.4578G>C (p.Val1526=) c.924G>C (p.Val308=) c.4818G>C (p.Val1606=) | |
X | g.32365098C>T | CA515714786 | DMD | c.4947G>A (p.Val1649=) c.915G>A (p.Val305=) c.4935G>A (p.Val1645=) c.195G>A (p.Val65=) c.94-388G>A (n.94-388G>A) n.336-148035G>A c.4923G>A (p.Val1641=) c.4578G>A (p.Val1526=) c.924G>A (p.Val308=) c.4818G>A (p.Val1606=) | ClinVar dbSNP |
X | g.32365099A>C | CA412672055 | DMD | c.4946T>G (p.Val1649Gly) c.914T>G (p.Val305Gly) c.4934T>G (p.Val1645Gly) c.194T>G (p.Val65Gly) c.94-389T>G (n.94-389T>G) n.336-148036T>G c.4922T>G (p.Val1641Gly) c.4577T>G (p.Val1526Gly) c.923T>G (p.Val308Gly) c.4817T>G (p.Val1606Gly) | |
X | g.32365099A>G | CA412672056 | DMD | c.4946T>C (p.Val1649Ala) c.914T>C (p.Val305Ala) c.4934T>C (p.Val1645Ala) c.194T>C (p.Val65Ala) c.94-389T>C (n.94-389T>C) n.336-148036T>C c.4922T>C (p.Val1641Ala) c.4577T>C (p.Val1526Ala) c.923T>C (p.Val308Ala) c.4817T>C (p.Val1606Ala) | |
X | g.32365099A>T | CA412672058 | DMD | c.4946T>A (p.Val1649Glu) c.914T>A (p.Val305Glu) c.4934T>A (p.Val1645Glu) c.194T>A (p.Val65Glu) c.94-389T>A (n.94-389T>A) n.336-148036T>A c.4922T>A (p.Val1641Glu) c.4577T>A (p.Val1526Glu) c.923T>A (p.Val308Glu) c.4817T>A (p.Val1606Glu) | |
X | g.32365100C>A | CA412672060 | DMD | c.4945G>T (p.Val1649Leu) c.913G>T (p.Val305Leu) c.4933G>T (p.Val1645Leu) c.193G>T (p.Val65Leu) c.94-390G>T (n.94-390G>T) n.336-148037G>T c.4921G>T (p.Val1641Leu) c.4576G>T (p.Val1526Leu) c.922G>T (p.Val308Leu) c.4816G>T (p.Val1606Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.32365100C= | CA2422770123 | DMD | c.4945G= (p.Val1649=) c.913G= (p.Val305=) c.4933G= (p.Val1645=) c.193G= (p.Val65=) c.94-390G= (n.94-390G=) n.336-148037G= c.4921G= (p.Val1641=) c.4576G= (p.Val1526=) c.922G= (p.Val308=) c.4816G= (p.Val1606=) | |
X | g.32365100C>G | CA412672062 | DMD | c.4945G>C (p.Val1649Leu) c.913G>C (p.Val305Leu) c.4933G>C (p.Val1645Leu) c.193G>C (p.Val65Leu) c.94-390G>C (n.94-390G>C) n.336-148037G>C c.4921G>C (p.Val1641Leu) c.4576G>C (p.Val1526Leu) c.922G>C (p.Val308Leu) c.4816G>C (p.Val1606Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365100C>T | CA412672064 | DMD | c.4945G>A (p.Val1649Met) c.913G>A (p.Val305Met) c.4933G>A (p.Val1645Met) c.193G>A (p.Val65Met) c.94-390G>A (n.94-390G>A) n.336-148037G>A c.4921G>A (p.Val1641Met) c.4576G>A (p.Val1526Met) c.922G>A (p.Val308Met) c.4816G>A (p.Val1606Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32365101C>A | CA412672067 | DMD | c.4944G>T (p.Leu1648Phe) c.912G>T (p.Leu304Phe) c.4932G>T (p.Leu1644Phe) c.192G>T (p.Leu64Phe) c.94-391G>T (n.94-391G>T) n.336-148038G>T c.4920G>T (p.Leu1640Phe) c.4575G>T (p.Leu1525Phe) c.921G>T (p.Leu307Phe) c.4815G>T (p.Leu1605Phe) | |
X | g.32365101C>G | CA412672065 | DMD | c.4944G>C (p.Leu1648Phe) c.912G>C (p.Leu304Phe) c.4932G>C (p.Leu1644Phe) c.192G>C (p.Leu64Phe) c.94-391G>C (n.94-391G>C) n.336-148038G>C c.4920G>C (p.Leu1640Phe) c.4575G>C (p.Leu1525Phe) c.921G>C (p.Leu307Phe) c.4815G>C (p.Leu1605Phe) | |
X | g.32365101C>T | CA515714788 | DMD | c.4944G>A (p.Leu1648=) c.912G>A (p.Leu304=) c.4932G>A (p.Leu1644=) c.192G>A (p.Leu64=) c.94-391G>A (n.94-391G>A) n.336-148038G>A c.4920G>A (p.Leu1640=) c.4575G>A (p.Leu1525=) c.921G>A (p.Leu307=) c.4815G>A (p.Leu1605=) | |
X | g.32365102A>C | CA412672069 | DMD | c.4943T>G (p.Leu1648Trp) c.911T>G (p.Leu304Trp) c.4931T>G (p.Leu1644Trp) c.191T>G (p.Leu64Trp) c.94-392T>G (n.94-392T>G) n.336-148039T>G c.4919T>G (p.Leu1640Trp) c.4574T>G (p.Leu1525Trp) c.920T>G (p.Leu307Trp) c.4814T>G (p.Leu1605Trp) | |
X | g.32365102A>G | CA412672071 | DMD | c.4943T>C (p.Leu1648Ser) c.911T>C (p.Leu304Ser) c.4931T>C (p.Leu1644Ser) c.191T>C (p.Leu64Ser) c.94-392T>C (n.94-392T>C) n.336-148039T>C c.4919T>C (p.Leu1640Ser) c.4574T>C (p.Leu1525Ser) c.920T>C (p.Leu307Ser) c.4814T>C (p.Leu1605Ser) | |
X | g.32365102A>T | CA412672073 | DMD | c.4943T>A (p.Leu1648Ter) c.911T>A (p.Leu304Ter) c.4931T>A (p.Leu1644Ter) c.191T>A (p.Leu64Ter) c.94-392T>A (n.94-392T>A) n.336-148039T>A c.4919T>A (p.Leu1640Ter) c.4574T>A (p.Leu1525Ter) c.920T>A (p.Leu307Ter) c.4814T>A (p.Leu1605Ter) | ClinVar |
X | g.32365103A= | CA2422770124 | DMD | c.4942T= (p.Leu1648=) c.910T= (p.Leu304=) c.4930T= (p.Leu1644=) c.190T= (p.Leu64=) c.94-393T= (n.94-393T=) n.336-148040T= c.4918T= (p.Leu1640=) c.4573T= (p.Leu1525=) c.919T= (p.Leu307=) c.4813T= (p.Leu1605=) | |
X | g.32365103A>C | CA10378816 | DMD | c.4942T>G (p.Leu1648Val) c.910T>G (p.Leu304Val) c.4930T>G (p.Leu1644Val) c.190T>G (p.Leu64Val) c.94-393T>G (n.94-393T>G) n.336-148040T>G c.4918T>G (p.Leu1640Val) c.4573T>G (p.Leu1525Val) c.919T>G (p.Leu307Val) c.4813T>G (p.Leu1605Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365103A>G | CA10378817 | DMD | c.4942T>C (p.Leu1648=) c.910T>C (p.Leu304=) c.4930T>C (p.Leu1644=) c.190T>C (p.Leu64=) c.94-393T>C (n.94-393T>C) n.336-148040T>C c.4918T>C (p.Leu1640=) c.4573T>C (p.Leu1525=) c.919T>C (p.Leu307=) c.4813T>C (p.Leu1605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365103A>T | CA412672075 | DMD | c.4942T>A (p.Leu1648Met) c.910T>A (p.Leu304Met) c.4930T>A (p.Leu1644Met) c.190T>A (p.Leu64Met) c.94-393T>A (n.94-393T>A) n.336-148040T>A c.4918T>A (p.Leu1640Met) c.4573T>A (p.Leu1525Met) c.919T>A (p.Leu307Met) c.4813T>A (p.Leu1605Met) | gnomAD v4 |
X | g.32365104C>A | CA515714789 | DMD | c.4941G>T (p.Thr1647=) c.909G>T (p.Thr303=) c.4929G>T (p.Thr1643=) c.189G>T (p.Thr63=) c.94-394G>T (n.94-394G>T) n.336-148041G>T c.4917G>T (p.Thr1639=) c.4572G>T (p.Thr1524=) c.918G>T (p.Thr306=) c.4812G>T (p.Thr1604=) | COSMIC COSMIC COSMIC COSMIC |
X | g.32365104C= | CA2422770125 | DMD | c.4941G= (p.Thr1647=) c.909G= (p.Thr303=) c.4929G= (p.Thr1643=) c.189G= (p.Thr63=) c.94-394G= (n.94-394G=) n.336-148041G= c.4917G= (p.Thr1639=) c.4572G= (p.Thr1524=) c.918G= (p.Thr306=) c.4812G= (p.Thr1604=) | |
X | g.32365104C>G | CA515714790 | DMD | c.4941G>C (p.Thr1647=) c.909G>C (p.Thr303=) c.4929G>C (p.Thr1643=) c.189G>C (p.Thr63=) c.94-394G>C (n.94-394G>C) n.336-148041G>C c.4917G>C (p.Thr1639=) c.4572G>C (p.Thr1524=) c.918G>C (p.Thr306=) c.4812G>C (p.Thr1604=) | |
X | g.32365104C>T | CA10378818 | DMD | c.4941G>A (p.Thr1647=) c.909G>A (p.Thr303=) c.4929G>A (p.Thr1643=) c.189G>A (p.Thr63=) c.94-394G>A (n.94-394G>A) n.336-148041G>A c.4917G>A (p.Thr1639=) c.4572G>A (p.Thr1524=) c.918G>A (p.Thr306=) c.4812G>A (p.Thr1604=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.32365105G>A | CA10378819 | DMD | c.4940C>T (p.Thr1647Met) c.908C>T (p.Thr303Met) c.4928C>T (p.Thr1643Met) c.188C>T (p.Thr63Met) c.94-395C>T (n.94-395C>T) n.336-148042C>T c.4916C>T (p.Thr1639Met) c.4571C>T (p.Thr1524Met) c.917C>T (p.Thr306Met) c.4811C>T (p.Thr1604Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.32365105G>C | CA412672079 | DMD | c.4940C>G (p.Thr1647Arg) c.908C>G (p.Thr303Arg) c.4928C>G (p.Thr1643Arg) c.188C>G (p.Thr63Arg) c.94-395C>G (n.94-395C>G) n.336-148042C>G c.4916C>G (p.Thr1639Arg) c.4571C>G (p.Thr1524Arg) c.917C>G (p.Thr306Arg) c.4811C>G (p.Thr1604Arg) | |
X | g.32365105G= | CA2422770126 | DMD | c.4940C= (p.Thr1647=) c.908C= (p.Thr303=) c.4928C= (p.Thr1643=) c.188C= (p.Thr63=) c.94-395C= (n.94-395C=) n.336-148042C= c.4916C= (p.Thr1639=) c.4571C= (p.Thr1524=) c.917C= (p.Thr306=) c.4811C= (p.Thr1604=) | |
X | g.32365105G>T | CA412672081 | DMD | c.4940C>A (p.Thr1647Lys) c.908C>A (p.Thr303Lys) c.4928C>A (p.Thr1643Lys) c.188C>A (p.Thr63Lys) c.94-395C>A (n.94-395C>A) n.336-148042C>A c.4916C>A (p.Thr1639Lys) c.4571C>A (p.Thr1524Lys) c.917C>A (p.Thr306Lys) c.4811C>A (p.Thr1604Lys) | |
X | g.32365106T>A | CA412672084 | DMD | c.4939A>T (p.Thr1647Ser) c.907A>T (p.Thr303Ser) c.4927A>T (p.Thr1643Ser) c.187A>T (p.Thr63Ser) c.94-396A>T (n.94-396A>T) n.336-148043A>T c.4915A>T (p.Thr1639Ser) c.4570A>T (p.Thr1524Ser) c.916A>T (p.Thr306Ser) c.4810A>T (p.Thr1604Ser) | |
X | g.32365106T>C | CA412672086 | DMD | c.4939A>G (p.Thr1647Ala) c.907A>G (p.Thr303Ala) c.4927A>G (p.Thr1643Ala) c.187A>G (p.Thr63Ala) c.94-396A>G (n.94-396A>G) n.336-148043A>G c.4915A>G (p.Thr1639Ala) c.4570A>G (p.Thr1524Ala) c.916A>G (p.Thr306Ala) c.4810A>G (p.Thr1604Ala) | |
X | g.32365106T>G | CA412672088 | DMD | c.4939A>C (p.Thr1647Pro) c.907A>C (p.Thr303Pro) c.4927A>C (p.Thr1643Pro) c.187A>C (p.Thr63Pro) c.94-396A>C (n.94-396A>C) n.336-148043A>C c.4915A>C (p.Thr1639Pro) c.4570A>C (p.Thr1524Pro) c.916A>C (p.Thr306Pro) c.4810A>C (p.Thr1604Pro) | |
X | g.32365107C>A | CA412672091 | DMD | c.4938G>T (p.Glu1646Asp) c.906G>T (p.Glu302Asp) c.4926G>T (p.Glu1642Asp) c.186G>T (p.Glu62Asp) c.94-397G>T (n.94-397G>T) n.336-148044G>T c.4914G>T (p.Glu1638Asp) c.4569G>T (p.Glu1523Asp) c.915G>T (p.Glu305Asp) c.4809G>T (p.Glu1603Asp) | |
X | g.32365107C>G | CA412672093 | DMD | c.4938G>C (p.Glu1646Asp) c.906G>C (p.Glu302Asp) c.4926G>C (p.Glu1642Asp) c.186G>C (p.Glu62Asp) c.94-397G>C (n.94-397G>C) n.336-148044G>C c.4914G>C (p.Glu1638Asp) c.4569G>C (p.Glu1523Asp) c.915G>C (p.Glu305Asp) c.4809G>C (p.Glu1603Asp) | |
X | g.32365107C>T | CA515714791 | DMD | c.4938G>A (p.Glu1646=) c.906G>A (p.Glu302=) c.4926G>A (p.Glu1642=) c.186G>A (p.Glu62=) c.94-397G>A (n.94-397G>A) n.336-148044G>A c.4914G>A (p.Glu1638=) c.4569G>A (p.Glu1523=) c.915G>A (p.Glu305=) c.4809G>A (p.Glu1603=) | |
X | g.32365107_32365111delinsCTCCT | CA2422770127 | DMD | c.4934_4938delinsAGGAG (p.Lys1645=) c.902_906delinsAGGAG (p.Lys301=) c.4922_4926delinsAGGAG (p.Lys1641=) c.182_186delinsAGGAG (p.Lys61=) c.94-401_94-397delinsAGGAG (n.94-401_94-397delinsAGGAG) n.336-148048_336-148044delinsAGGAG c.4910_4914delinsAGGAG (p.Lys1637=) c.4565_4569delinsAGGAG (p.Lys1522=) c.911_915delinsAGGAG (p.Lys304=) c.4805_4809delinsAGGAG (p.Lys1602=) | |
X | g.32365108del | CA2695234113 | DMD | c.4937del (p.Glu1646GlyfsTer11) c.905del (p.Glu302GlyfsTer11) c.4925del (p.Glu1642GlyfsTer11) c.185del (p.Glu62GlyfsTer11) c.94-398del (n.94-398del) n.336-148045del c.4913del (p.Glu1638GlyfsTer11) c.4568del (p.Glu1523GlyfsTer11) c.914del (p.Glu305GlyfsTer11) c.4808del (p.Glu1603GlyfsTer11) | |
X | g.32365108T>A | CA412672094 | DMD | c.4937A>T (p.Glu1646Val) c.905A>T (p.Glu302Val) c.4925A>T (p.Glu1642Val) c.185A>T (p.Glu62Val) c.94-398A>T (n.94-398A>T) n.336-148045A>T c.4913A>T (p.Glu1638Val) c.4568A>T (p.Glu1523Val) c.914A>T (p.Glu305Val) c.4808A>T (p.Glu1603Val) | |
X | g.32365108T>C | CA412672098 | DMD | c.4937A>G (p.Glu1646Gly) c.905A>G (p.Glu302Gly) c.4925A>G (p.Glu1642Gly) c.185A>G (p.Glu62Gly) c.94-398A>G (n.94-398A>G) n.336-148045A>G c.4913A>G (p.Glu1638Gly) c.4568A>G (p.Glu1523Gly) c.914A>G (p.Glu305Gly) c.4808A>G (p.Glu1603Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365108T>G | CA412672096 | DMD | c.4937A>C (p.Glu1646Ala) c.905A>C (p.Glu302Ala) c.4925A>C (p.Glu1642Ala) c.185A>C (p.Glu62Ala) c.94-398A>C (n.94-398A>C) n.336-148045A>C c.4913A>C (p.Glu1638Ala) c.4568A>C (p.Glu1523Ala) c.914A>C (p.Glu305Ala) c.4808A>C (p.Glu1603Ala) | |
X | g.32365108T= | CA2422770128 | DMD | c.4937A= (p.Glu1646=) c.905A= (p.Glu302=) c.4925A= (p.Glu1642=) c.185A= (p.Glu62=) c.94-398A= (n.94-398A=) n.336-148045A= c.4913A= (p.Glu1638=) c.4568A= (p.Glu1523=) c.914A= (p.Glu305=) c.4808A= (p.Glu1603=) | |
X | g.32365110_32365113del | CA16616671 | DMD | c.4934_4937del (p.Lys1645ArgfsTer11) c.902_905del (p.Lys301ArgfsTer11) c.4922_4925del (p.Lys1641ArgfsTer11) c.182_185del (p.Lys61ArgfsTer11) c.94-401_94-398del (n.94-401_94-398del) n.336-148048_336-148045del c.4910_4913del (p.Lys1637ArgfsTer11) c.4565_4568del (p.Lys1522ArgfsTer11) c.911_914del (p.Lys304ArgfsTer11) c.4805_4808del (p.Lys1602ArgfsTer11) | ClinVar dbSNP |
X | g.32365109C>A | CA412672100 | DMD | c.4936G>T (p.Glu1646Ter) c.904G>T (p.Glu302Ter) c.4924G>T (p.Glu1642Ter) c.184G>T (p.Glu62Ter) c.94-399G>T (n.94-399G>T) n.336-148046G>T c.4912G>T (p.Glu1638Ter) c.4567G>T (p.Glu1523Ter) c.913G>T (p.Glu305Ter) c.4807G>T (p.Glu1603Ter) | |
X | g.32365109C>G | CA412672102 | DMD | c.4936G>C (p.Glu1646Gln) c.904G>C (p.Glu302Gln) c.4924G>C (p.Glu1642Gln) c.184G>C (p.Glu62Gln) c.94-399G>C (n.94-399G>C) n.336-148046G>C c.4912G>C (p.Glu1638Gln) c.4567G>C (p.Glu1523Gln) c.913G>C (p.Glu305Gln) c.4807G>C (p.Glu1603Gln) | |
X | g.32365109C>T | CA412672104 | DMD | c.4936G>A (p.Glu1646Lys) c.904G>A (p.Glu302Lys) c.4924G>A (p.Glu1642Lys) c.184G>A (p.Glu62Lys) c.94-399G>A (n.94-399G>A) n.336-148046G>A c.4912G>A (p.Glu1638Lys) c.4567G>A (p.Glu1523Lys) c.913G>A (p.Glu305Lys) c.4807G>A (p.Glu1603Lys) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.32365109_32365112delinsCCTT | CA2422770129 | DMD | c.4933_4936delinsAAGG (p.Lys1645=) c.901_904delinsAAGG (p.Lys301=) c.4921_4924delinsAAGG (p.Lys1641=) c.181_184delinsAAGG (p.Lys61=) c.94-402_94-399delinsAAGG (n.94-402_94-399delinsAAGG) n.336-148049_336-148046delinsAAGG c.4909_4912delinsAAGG (p.Lys1637=) c.4564_4567delinsAAGG (p.Lys1522=) c.910_913delinsAAGG (p.Lys304=) c.4804_4807delinsAAGG (p.Lys1602=) | |
X | g.32365110C>A | CA412672107 | DMD | c.4935G>T (p.Lys1645Asn) c.903G>T (p.Lys301Asn) c.4923G>T (p.Lys1641Asn) c.183G>T (p.Lys61Asn) c.94-400G>T (n.94-400G>T) n.336-148047G>T c.4911G>T (p.Lys1637Asn) c.4566G>T (p.Lys1522Asn) c.912G>T (p.Lys304Asn) c.4806G>T (p.Lys1602Asn) | |
X | g.32365110C>G | CA412672109 | DMD | c.4935G>C (p.Lys1645Asn) c.903G>C (p.Lys301Asn) c.4923G>C (p.Lys1641Asn) c.183G>C (p.Lys61Asn) c.94-400G>C (n.94-400G>C) n.336-148047G>C c.4911G>C (p.Lys1637Asn) c.4566G>C (p.Lys1522Asn) c.912G>C (p.Lys304Asn) c.4806G>C (p.Lys1602Asn) | |
X | g.32365110C>T | CA515714792 | DMD | c.4935G>A (p.Lys1645=) c.903G>A (p.Lys301=) c.4923G>A (p.Lys1641=) c.183G>A (p.Lys61=) c.94-400G>A (n.94-400G>A) n.336-148047G>A c.4911G>A (p.Lys1637=) c.4566G>A (p.Lys1522=) c.912G>A (p.Lys304=) c.4806G>A (p.Lys1602=) | |
X | g.32365113_32365115del | CA412672110 | DMD | c.4933_4935del (p.Lys1645del) c.901_903del (p.Lys301del) c.4921_4923del (p.Lys1641del) c.181_183del (p.Lys61del) c.94-402_94-400del (n.94-402_94-400del) n.336-148049_336-148047del c.4909_4911del (p.Lys1637del) c.4564_4566del (p.Lys1522del) c.910_912del (p.Lys304del) c.4804_4806del (p.Lys1602del) | dbSNP gnomAD v4 |
X | g.32365111T>A | CA10378820 | DMD | c.4934A>T (p.Lys1645Met) c.902A>T (p.Lys301Met) c.4922A>T (p.Lys1641Met) c.182A>T (p.Lys61Met) c.94-401A>T (n.94-401A>T) n.336-148048A>T c.4910A>T (p.Lys1637Met) c.4565A>T (p.Lys1522Met) c.911A>T (p.Lys304Met) c.4805A>T (p.Lys1602Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32365111T>C | CA412672113 | DMD | c.4934A>G (p.Lys1645Arg) c.902A>G (p.Lys301Arg) c.4922A>G (p.Lys1641Arg) c.182A>G (p.Lys61Arg) c.94-401A>G (n.94-401A>G) n.336-148048A>G c.4910A>G (p.Lys1637Arg) c.4565A>G (p.Lys1522Arg) c.911A>G (p.Lys304Arg) c.4805A>G (p.Lys1602Arg) | |
X | g.32365111T>G | CA412672115 | DMD | c.4934A>C (p.Lys1645Thr) c.902A>C (p.Lys301Thr) c.4922A>C (p.Lys1641Thr) c.182A>C (p.Lys61Thr) c.94-401A>C (n.94-401A>C) n.336-148048A>C c.4910A>C (p.Lys1637Thr) c.4565A>C (p.Lys1522Thr) c.911A>C (p.Lys304Thr) c.4805A>C (p.Lys1602Thr) | |
X | g.32365111T= | CA2422770130 | DMD | c.4934A= (p.Lys1645=) c.902A= (p.Lys301=) c.4922A= (p.Lys1641=) c.182A= (p.Lys61=) c.94-401A= (n.94-401A=) n.336-148048A= c.4910A= (p.Lys1637=) c.4565A= (p.Lys1522=) c.911A= (p.Lys304=) c.4805A= (p.Lys1602=) | |
X | g.32365112T>A | CA412672117 | DMD | c.4933A>T (p.Lys1645Ter) c.901A>T (p.Lys301Ter) c.4921A>T (p.Lys1641Ter) c.181A>T (p.Lys61Ter) c.94-402A>T (n.94-402A>T) n.336-148049A>T c.4909A>T (p.Lys1637Ter) c.4564A>T (p.Lys1522Ter) c.910A>T (p.Lys304Ter) c.4804A>T (p.Lys1602Ter) | dbSNP |
X | g.32365112T>C | CA412672119 | DMD | c.4933A>G (p.Lys1645Glu) c.901A>G (p.Lys301Glu) c.4921A>G (p.Lys1641Glu) c.181A>G (p.Lys61Glu) c.94-402A>G (n.94-402A>G) n.336-148049A>G c.4909A>G (p.Lys1637Glu) c.4564A>G (p.Lys1522Glu) c.910A>G (p.Lys304Glu) c.4804A>G (p.Lys1602Glu) | |
X | g.32365112T>G | CA412672120 | DMD | c.4933A>C (p.Lys1645Gln) c.901A>C (p.Lys301Gln) c.4921A>C (p.Lys1641Gln) c.181A>C (p.Lys61Gln) c.94-402A>C (n.94-402A>C) n.336-148049A>C c.4909A>C (p.Lys1637Gln) c.4564A>C (p.Lys1522Gln) c.910A>C (p.Lys304Gln) c.4804A>C (p.Lys1602Gln) | |
X | g.32365113C>A | CA412672127 | DMD | c.4932G>T (p.Lys1644Asn) c.900G>T (p.Lys300Asn) c.4920G>T (p.Lys1640Asn) c.180G>T (p.Lys60Asn) c.94-403G>T (n.94-403G>T) n.336-148050G>T c.4908G>T (p.Lys1636Asn) c.4563G>T (p.Lys1521Asn) c.909G>T (p.Lys303Asn) c.4803G>T (p.Lys1601Asn) | |
X | g.32365113C>G | CA412672125 | DMD | c.4932G>C (p.Lys1644Asn) c.900G>C (p.Lys300Asn) c.4920G>C (p.Lys1640Asn) c.180G>C (p.Lys60Asn) c.94-403G>C (n.94-403G>C) n.336-148050G>C c.4908G>C (p.Lys1636Asn) c.4563G>C (p.Lys1521Asn) c.909G>C (p.Lys303Asn) c.4803G>C (p.Lys1601Asn) | |
X | g.32365113C>T | CA515714793 | DMD | c.4932G>A (p.Lys1644=) c.900G>A (p.Lys300=) c.4920G>A (p.Lys1640=) c.180G>A (p.Lys60=) c.94-403G>A (n.94-403G>A) n.336-148050G>A c.4908G>A (p.Lys1636=) c.4563G>A (p.Lys1521=) c.909G>A (p.Lys303=) c.4803G>A (p.Lys1601=) | |
X | g.32365114T>A | CA412672129 | DMD | c.4931A>T (p.Lys1644Met) c.899A>T (p.Lys300Met) c.4919A>T (p.Lys1640Met) c.179A>T (p.Lys60Met) c.94-404A>T (n.94-404A>T) n.336-148051A>T c.4907A>T (p.Lys1636Met) c.4562A>T (p.Lys1521Met) c.908A>T (p.Lys303Met) c.4802A>T (p.Lys1601Met) | |
X | g.32365114T>C | CA412672132 | DMD | c.4931A>G (p.Lys1644Arg) c.899A>G (p.Lys300Arg) c.4919A>G (p.Lys1640Arg) c.179A>G (p.Lys60Arg) c.94-404A>G (n.94-404A>G) n.336-148051A>G c.4907A>G (p.Lys1636Arg) c.4562A>G (p.Lys1521Arg) c.908A>G (p.Lys303Arg) c.4802A>G (p.Lys1601Arg) | |
X | g.32365114T>G | CA412672130 | DMD | c.4931A>C (p.Lys1644Thr) c.899A>C (p.Lys300Thr) c.4919A>C (p.Lys1640Thr) c.179A>C (p.Lys60Thr) c.94-404A>C (n.94-404A>C) n.336-148051A>C c.4907A>C (p.Lys1636Thr) c.4562A>C (p.Lys1521Thr) c.908A>C (p.Lys303Thr) c.4802A>C (p.Lys1601Thr) | |
X | g.32365115T>A | CA412672135 | DMD | c.4930A>T (p.Lys1644Ter) c.898A>T (p.Lys300Ter) c.4918A>T (p.Lys1640Ter) c.178A>T (p.Lys60Ter) c.94-405A>T (n.94-405A>T) n.336-148052A>T c.4906A>T (p.Lys1636Ter) c.4561A>T (p.Lys1521Ter) c.907A>T (p.Lys303Ter) c.4801A>T (p.Lys1601Ter) | |
X | g.32365115T>C | CA412672138 | DMD | c.4930A>G (p.Lys1644Glu) c.898A>G (p.Lys300Glu) c.4918A>G (p.Lys1640Glu) c.178A>G (p.Lys60Glu) c.94-405A>G (n.94-405A>G) n.336-148052A>G c.4906A>G (p.Lys1636Glu) c.4561A>G (p.Lys1521Glu) c.907A>G (p.Lys303Glu) c.4801A>G (p.Lys1601Glu) | |
X | g.32365115T>G | CA412672136 | DMD | c.4930A>C (p.Lys1644Gln) c.898A>C (p.Lys300Gln) c.4918A>C (p.Lys1640Gln) c.178A>C (p.Lys60Gln) c.94-405A>C (n.94-405A>C) n.336-148052A>C c.4906A>C (p.Lys1636Gln) c.4561A>C (p.Lys1521Gln) c.907A>C (p.Lys303Gln) c.4801A>C (p.Lys1601Gln) | ClinVar gnomAD v4 |
X | g.32365116G>A | CA515714794 | DMD | c.4929C>T (p.Gly1643=) c.897C>T (p.Gly299=) c.4917C>T (p.Gly1639=) c.177C>T (p.Gly59=) c.94-406C>T (n.94-406C>T) n.336-148053C>T c.4905C>T (p.Gly1635=) c.4560C>T (p.Gly1520=) c.906C>T (p.Gly302=) c.4800C>T (p.Gly1600=) | ClinVar |
X | g.32365116G>C | CA10378821 | DMD | c.4929C>G (p.Gly1643=) c.897C>G (p.Gly299=) c.4917C>G (p.Gly1639=) c.177C>G (p.Gly59=) c.94-406C>G (n.94-406C>G) n.336-148053C>G c.4905C>G (p.Gly1635=) c.4560C>G (p.Gly1520=) c.906C>G (p.Gly302=) c.4800C>G (p.Gly1600=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365116G= | CA2422770131 | DMD | c.4929C= (p.Gly1643=) c.897C= (p.Gly299=) c.4917C= (p.Gly1639=) c.177C= (p.Gly59=) c.94-406C= (n.94-406C=) n.336-148053C= c.4905C= (p.Gly1635=) c.4560C= (p.Gly1520=) c.906C= (p.Gly302=) c.4800C= (p.Gly1600=) | |
X | g.32365116G>T | CA515714795 | DMD | c.4929C>A (p.Gly1643=) c.897C>A (p.Gly299=) c.4917C>A (p.Gly1639=) c.177C>A (p.Gly59=) c.94-406C>A (n.94-406C>A) n.336-148053C>A c.4905C>A (p.Gly1635=) c.4560C>A (p.Gly1520=) c.906C>A (p.Gly302=) c.4800C>A (p.Gly1600=) | |
X | g.32365117C>A | CA412672143 | DMD | c.4928G>T (p.Gly1643Val) c.896G>T (p.Gly299Val) c.4916G>T (p.Gly1639Val) c.176G>T (p.Gly59Val) c.94-407G>T (n.94-407G>T) n.336-148054G>T c.4904G>T (p.Gly1635Val) c.4559G>T (p.Gly1520Val) c.905G>T (p.Gly302Val) c.4799G>T (p.Gly1600Val) | |
X | g.32365117C= | CA2422770132 | DMD | c.4928G= (p.Gly1643=) c.896G= (p.Gly299=) c.4916G= (p.Gly1639=) c.176G= (p.Gly59=) c.94-407G= (n.94-407G=) n.336-148054G= c.4904G= (p.Gly1635=) c.4559G= (p.Gly1520=) c.905G= (p.Gly302=) c.4799G= (p.Gly1600=) | |
X | g.32365117C>G | CA10378822 | DMD | c.4928G>C (p.Gly1643Ala) c.896G>C (p.Gly299Ala) c.4916G>C (p.Gly1639Ala) c.176G>C (p.Gly59Ala) c.94-407G>C (n.94-407G>C) n.336-148054G>C c.4904G>C (p.Gly1635Ala) c.4559G>C (p.Gly1520Ala) c.905G>C (p.Gly302Ala) c.4799G>C (p.Gly1600Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32365117C>T | CA412672141 | DMD | c.4928G>A (p.Gly1643Asp) c.896G>A (p.Gly299Asp) c.4916G>A (p.Gly1639Asp) c.176G>A (p.Gly59Asp) c.94-407G>A (n.94-407G>A) n.336-148054G>A c.4904G>A (p.Gly1635Asp) c.4559G>A (p.Gly1520Asp) c.905G>A (p.Gly302Asp) c.4799G>A (p.Gly1600Asp) | |
X | g.32365118C>A | CA10378823 | DMD | c.4927G>T (p.Gly1643Cys) c.895G>T (p.Gly299Cys) c.4915G>T (p.Gly1639Cys) c.175G>T (p.Gly59Cys) c.94-408G>T (n.94-408G>T) n.336-148055G>T c.4903G>T (p.Gly1635Cys) c.4558G>T (p.Gly1520Cys) c.904G>T (p.Gly302Cys) c.4798G>T (p.Gly1600Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32365118C= | CA2422770133 | DMD | c.4927G= (p.Gly1643=) c.895G= (p.Gly299=) c.4915G= (p.Gly1639=) c.175G= (p.Gly59=) c.94-408G= (n.94-408G=) n.336-148055G= c.4903G= (p.Gly1635=) c.4558G= (p.Gly1520=) c.904G= (p.Gly302=) c.4798G= (p.Gly1600=) | |
X | g.32365118C>G | CA412672146 | DMD | c.4927G>C (p.Gly1643Arg) c.895G>C (p.Gly299Arg) c.4915G>C (p.Gly1639Arg) c.175G>C (p.Gly59Arg) c.94-408G>C (n.94-408G>C) n.336-148055G>C c.4903G>C (p.Gly1635Arg) c.4558G>C (p.Gly1520Arg) c.904G>C (p.Gly302Arg) c.4798G>C (p.Gly1600Arg) | ClinVar dbSNP gnomAD v4 |
X | g.32365118C>T | CA412672148 | DMD | c.4927G>A (p.Gly1643Ser) c.895G>A (p.Gly299Ser) c.4915G>A (p.Gly1639Ser) c.175G>A (p.Gly59Ser) c.94-408G>A (n.94-408G>A) n.336-148055G>A c.4903G>A (p.Gly1635Ser) c.4558G>A (p.Gly1520Ser) c.904G>A (p.Gly302Ser) c.4798G>A (p.Gly1600Ser) | gnomAD v4 |
X | g.32365119C>A | CA412672151 | DMD | c.4926G>T (p.Leu1642Phe) c.894G>T (p.Leu298Phe) c.4914G>T (p.Leu1638Phe) c.174G>T (p.Leu58Phe) c.94-409G>T (n.94-409G>T) n.336-148056G>T c.4902G>T (p.Leu1634Phe) c.4557G>T (p.Leu1519Phe) c.903G>T (p.Leu301Phe) c.4797G>T (p.Leu1599Phe) | |
X | g.32365119C>G | CA412672153 | DMD | c.4926G>C (p.Leu1642Phe) c.894G>C (p.Leu298Phe) c.4914G>C (p.Leu1638Phe) c.174G>C (p.Leu58Phe) c.94-409G>C (n.94-409G>C) n.336-148056G>C c.4902G>C (p.Leu1634Phe) c.4557G>C (p.Leu1519Phe) c.903G>C (p.Leu301Phe) c.4797G>C (p.Leu1599Phe) | ClinVar dbSNP |
X | g.32365119C>T | CA515714796 | DMD | c.4926G>A (p.Leu1642=) c.894G>A (p.Leu298=) c.4914G>A (p.Leu1638=) c.174G>A (p.Leu58=) c.94-409G>A (n.94-409G>A) n.336-148056G>A c.4902G>A (p.Leu1634=) c.4557G>A (p.Leu1519=) c.903G>A (p.Leu301=) c.4797G>A (p.Leu1599=) | |
X | g.32365120A>C | CA412672155 | DMD | c.4925T>G (p.Leu1642Trp) c.893T>G (p.Leu298Trp) c.4913T>G (p.Leu1638Trp) c.173T>G (p.Leu58Trp) c.94-410T>G (n.94-410T>G) n.336-148057T>G c.4901T>G (p.Leu1634Trp) c.4556T>G (p.Leu1519Trp) c.902T>G (p.Leu301Trp) c.4796T>G (p.Leu1599Trp) | |
X | g.32365120A>G | CA412672157 | DMD | c.4925T>C (p.Leu1642Ser) c.893T>C (p.Leu298Ser) c.4913T>C (p.Leu1638Ser) c.173T>C (p.Leu58Ser) c.94-410T>C (n.94-410T>C) n.336-148057T>C c.4901T>C (p.Leu1634Ser) c.4556T>C (p.Leu1519Ser) c.902T>C (p.Leu301Ser) c.4796T>C (p.Leu1599Ser) | |
X | g.32365120A>T | CA412672159 | DMD | c.4925T>A (p.Leu1642Ter) c.893T>A (p.Leu298Ter) c.4913T>A (p.Leu1638Ter) c.173T>A (p.Leu58Ter) c.94-410T>A (n.94-410T>A) n.336-148057T>A c.4901T>A (p.Leu1634Ter) c.4556T>A (p.Leu1519Ter) c.902T>A (p.Leu301Ter) c.4796T>A (p.Leu1599Ter) | dbSNP |
X | g.32365123dup | CA645619990 | DMD | c.4925dup (p.Leu1642PhefsTer11) c.893dup (p.Leu298PhefsTer11) c.4913dup (p.Leu1638PhefsTer11) c.173dup (p.Leu58PhefsTer11) c.94-410dup (n.94-410dup) n.336-148057dup c.4901dup (p.Leu1634PhefsTer11) c.4556dup (p.Leu1519PhefsTer11) c.902dup (p.Leu301PhefsTer11) c.4796dup (p.Leu1599PhefsTer11) | COSMIC COSMIC COSMIC COSMIC |
X | g.32365121A= | CA2422770134 | DMD | c.4924T= (p.Leu1642=) c.892T= (p.Leu298=) c.4912T= (p.Leu1638=) c.172T= (p.Leu58=) c.94-411T= (n.94-411T=) n.336-148058T= c.4900T= (p.Leu1634=) c.4555T= (p.Leu1519=) c.901T= (p.Leu301=) c.4795T= (p.Leu1599=) | |
X | g.32365121A>C | CA412672161 | DMD | c.4924T>G (p.Leu1642Val) c.892T>G (p.Leu298Val) c.4912T>G (p.Leu1638Val) c.172T>G (p.Leu58Val) c.94-411T>G (n.94-411T>G) n.336-148058T>G c.4900T>G (p.Leu1634Val) c.4555T>G (p.Leu1519Val) c.901T>G (p.Leu301Val) c.4795T>G (p.Leu1599Val) | |
X | g.32365121A>G | CA10378824 | DMD | c.4924T>C (p.Leu1642=) c.892T>C (p.Leu298=) c.4912T>C (p.Leu1638=) c.172T>C (p.Leu58=) c.94-411T>C (n.94-411T>C) n.336-148058T>C c.4900T>C (p.Leu1634=) c.4555T>C (p.Leu1519=) c.901T>C (p.Leu301=) c.4795T>C (p.Leu1599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32365121A>T | CA412672163 | DMD | c.4924T>A (p.Leu1642Met) c.892T>A (p.Leu298Met) c.4912T>A (p.Leu1638Met) c.172T>A (p.Leu58Met) c.94-411T>A (n.94-411T>A) n.336-148058T>A c.4900T>A (p.Leu1634Met) c.4555T>A (p.Leu1519Met) c.901T>A (p.Leu301Met) c.4795T>A (p.Leu1599Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32365122A>C | CA515714797 | DMD | c.4923T>G (p.Val1641=) c.891T>G (p.Val297=) c.4911T>G (p.Val1637=) c.171T>G (p.Val57=) c.94-412T>G (n.94-412T>G) n.336-148059T>G c.4899T>G (p.Val1633=) c.4554T>G (p.Val1518=) c.900T>G (p.Val300=) c.4794T>G (p.Val1598=) | |
X | g.32365122A>G | CA515714798 | DMD | c.4923T>C (p.Val1641=) c.891T>C (p.Val297=) c.4911T>C (p.Val1637=) c.171T>C (p.Val57=) c.94-412T>C (n.94-412T>C) n.336-148059T>C c.4899T>C (p.Val1633=) c.4554T>C (p.Val1518=) c.900T>C (p.Val300=) c.4794T>C (p.Val1598=) | |
X | g.32365122A>T | CA515714799 | DMD | c.4923T>A (p.Val1641=) c.891T>A (p.Val297=) c.4911T>A (p.Val1637=) c.171T>A (p.Val57=) c.94-412T>A (n.94-412T>A) n.336-148059T>A c.4899T>A (p.Val1633=) c.4554T>A (p.Val1518=) c.900T>A (p.Val300=) c.4794T>A (p.Val1598=) | |
X | g.32365123A>C | CA412672170 | DMD | c.4922T>G (p.Val1641Gly) c.890T>G (p.Val297Gly) c.4910T>G (p.Val1637Gly) c.170T>G (p.Val57Gly) c.94-413T>G (n.94-413T>G) n.336-148060T>G c.4898T>G (p.Val1633Gly) c.4553T>G (p.Val1518Gly) c.899T>G (p.Val300Gly) c.4793T>G (p.Val1598Gly) | |
X | g.32365123A>G | CA412672166 | DMD | c.4922T>C (p.Val1641Ala) c.890T>C (p.Val297Ala) c.4910T>C (p.Val1637Ala) c.170T>C (p.Val57Ala) c.94-413T>C (n.94-413T>C) n.336-148060T>C c.4898T>C (p.Val1633Ala) c.4553T>C (p.Val1518Ala) c.899T>C (p.Val300Ala) c.4793T>C (p.Val1598Ala) | |
X | g.32365123A>T | CA412672167 | DMD | c.4922T>A (p.Val1641Asp) c.890T>A (p.Val297Asp) c.4910T>A (p.Val1637Asp) c.170T>A (p.Val57Asp) c.94-413T>A (n.94-413T>A) n.336-148060T>A c.4898T>A (p.Val1633Asp) c.4553T>A (p.Val1518Asp) c.899T>A (p.Val300Asp) c.4793T>A (p.Val1598Asp) | |
X | g.32365124C>A | CA412672172 | DMD | c.4921G>T (p.Val1641Phe) c.889G>T (p.Val297Phe) c.4909G>T (p.Val1637Phe) c.169G>T (p.Val57Phe) c.94-414G>T (n.94-414G>T) n.336-148061G>T c.4897G>T (p.Val1633Phe) c.4552G>T (p.Val1518Phe) c.898G>T (p.Val300Phe) c.4792G>T (p.Val1598Phe) | |
X | g.32365124C>G | CA412672174 | DMD | c.4921G>C (p.Val1641Leu) c.889G>C (p.Val297Leu) c.4909G>C (p.Val1637Leu) c.169G>C (p.Val57Leu) c.94-414G>C (n.94-414G>C) n.336-148061G>C c.4897G>C (p.Val1633Leu) c.4552G>C (p.Val1518Leu) c.898G>C (p.Val300Leu) c.4792G>C (p.Val1598Leu) | |
X | g.32365124C>T | CA412672176 | DMD | c.4921G>A (p.Val1641Ile) c.889G>A (p.Val297Ile) c.4909G>A (p.Val1637Ile) c.169G>A (p.Val57Ile) c.94-414G>A (n.94-414G>A) n.336-148061G>A c.4897G>A (p.Val1633Ile) c.4552G>A (p.Val1518Ile) c.898G>A (p.Val300Ile) c.4792G>A (p.Val1598Ile) | gnomAD v4 |
X | g.32365125T>A | CA515714800 | DMD | c.4920A>T (p.Thr1640=) c.888A>T (p.Thr296=) c.4908A>T (p.Thr1636=) c.168A>T (p.Thr56=) c.94-415A>T (n.94-415A>T) n.336-148062A>T c.4896A>T (p.Thr1632=) c.4551A>T (p.Thr1517=) c.897A>T (p.Thr299=) c.4791A>T (p.Thr1597=) | |
X | g.32365125T>C | CA515714801 | DMD | c.4920A>G (p.Thr1640=) c.888A>G (p.Thr296=) c.4908A>G (p.Thr1636=) c.168A>G (p.Thr56=) c.94-415A>G (n.94-415A>G) n.336-148062A>G c.4896A>G (p.Thr1632=) c.4551A>G (p.Thr1517=) c.897A>G (p.Thr299=) c.4791A>G (p.Thr1597=) | gnomAD v4 |
X | g.32365125T>G | CA515714802 | DMD | c.4920A>C (p.Thr1640=) c.888A>C (p.Thr296=) c.4908A>C (p.Thr1636=) c.168A>C (p.Thr56=) c.94-415A>C (n.94-415A>C) n.336-148062A>C c.4896A>C (p.Thr1632=) c.4551A>C (p.Thr1517=) c.897A>C (p.Thr299=) c.4791A>C (p.Thr1597=) | ClinVar dbSNP |