Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.31773212_31774154delinsTGGTGA | CA2580100588 | DMD | c.2194_2388+748delinsTCACCA c.-33_162+748delinsTCACCA n.1009_1203+748delinsTCACCA n.931_1125+748delinsTCACCA n.840_1034+748delinsTCACCA c.7348_7542+748delinsTCACCA c.3316_3510+748delinsTCACCA c.337_531+748delinsTCACCA c.436_630+748delinsTCACCA c.7336_7530+748delinsTCACCA c.105_299+748delinsTCACCA c.7333_7527+748delinsTCACCA c.7345_7539+748delinsTCACCA c.7324_7518+748delinsTCACCA c.6979_7173+748delinsTCACCA c.3325_3519+748delinsTCACCA c.7219_7413+748delinsTCACCA c.7210_7404+748delinsTCACCA c.7225_7419+748delinsTCACCA c.1522_1716+748delinsTCACCA | ClinVar |
X | g.31773995G>A | CA412658738 | DMD | c.2353C>T (p.Leu785Phe) c.127C>T (p.Leu43Phe) n.1168C>T n.1090C>T n.999C>T c.7507C>T (p.Leu2503Phe) c.3475C>T (p.Leu1159Phe) c.496C>T (p.Leu166Phe) c.595C>T (p.Leu199Phe) c.7495C>T (p.Leu2499Phe) c.264C>T (n.264C>T) c.7492C>T (p.Leu2498Phe) c.7504C>T (p.Leu2502Phe) c.7483C>T (p.Leu2495Phe) c.7138C>T (p.Leu2380Phe) c.3484C>T (p.Leu1162Phe) c.7378C>T (p.Leu2460Phe) c.7369C>T (p.Leu2457Phe) c.7384C>T (p.Leu2462Phe) c.1681C>T (p.Leu561Phe) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31773995G>C | CA412658740 | DMD | c.2353C>G (p.Leu785Val) c.127C>G (p.Leu43Val) n.1168C>G n.1090C>G n.999C>G c.7507C>G (p.Leu2503Val) c.3475C>G (p.Leu1159Val) c.496C>G (p.Leu166Val) c.595C>G (p.Leu199Val) c.7495C>G (p.Leu2499Val) c.264C>G (n.264C>G) c.7492C>G (p.Leu2498Val) c.7504C>G (p.Leu2502Val) c.7483C>G (p.Leu2495Val) c.7138C>G (p.Leu2380Val) c.3484C>G (p.Leu1162Val) c.7378C>G (p.Leu2460Val) c.7369C>G (p.Leu2457Val) c.7384C>G (p.Leu2462Val) c.1681C>G (p.Leu561Val) | |
X | g.31773995G= | CA2422548615 | DMD | c.2353C= (p.Leu785=) c.127C= (p.Leu43=) n.1168C= n.1090C= n.999C= c.7507C= (p.Leu2503=) c.3475C= (p.Leu1159=) c.496C= (p.Leu166=) c.595C= (p.Leu199=) c.7495C= (p.Leu2499=) c.264C= (n.264C=) c.7492C= (p.Leu2498=) c.7504C= (p.Leu2502=) c.7483C= (p.Leu2495=) c.7138C= (p.Leu2380=) c.3484C= (p.Leu1162=) c.7378C= (p.Leu2460=) c.7369C= (p.Leu2457=) c.7384C= (p.Leu2462=) c.1681C= (p.Leu561=) | |
X | g.31773995G>T | CA412658742 | DMD | c.2353C>A (p.Leu785Ile) c.127C>A (p.Leu43Ile) n.1168C>A n.1090C>A n.999C>A c.7507C>A (p.Leu2503Ile) c.3475C>A (p.Leu1159Ile) c.496C>A (p.Leu166Ile) c.595C>A (p.Leu199Ile) c.7495C>A (p.Leu2499Ile) c.264C>A (n.264C>A) c.7492C>A (p.Leu2498Ile) c.7504C>A (p.Leu2502Ile) c.7483C>A (p.Leu2495Ile) c.7138C>A (p.Leu2380Ile) c.3484C>A (p.Leu1162Ile) c.7378C>A (p.Leu2460Ile) c.7369C>A (p.Leu2457Ile) c.7384C>A (p.Leu2462Ile) c.1681C>A (p.Leu561Ile) | |
X | g.31773996G>A | CA515859303 | DMD | c.2352C>T (p.Asp784=) c.126C>T (p.Asp42=) n.1167C>T n.1089C>T n.998C>T c.7506C>T (p.Asp2502=) c.3474C>T (p.Asp1158=) c.495C>T (p.Asp165=) c.594C>T (p.Asp198=) c.7494C>T (p.Asp2498=) c.263C>T (n.263C>T) c.7491C>T (p.Asp2497=) c.7503C>T (p.Asp2501=) c.7482C>T (p.Asp2494=) c.7137C>T (p.Asp2379=) c.3483C>T (p.Asp1161=) c.7377C>T (p.Asp2459=) c.7368C>T (p.Asp2456=) c.7383C>T (p.Asp2461=) c.1680C>T (p.Asp560=) | ClinVar dbSNP |
X | g.31773996G>C | CA412658744 | DMD | c.2352C>G (p.Asp784Glu) c.126C>G (p.Asp42Glu) n.1167C>G n.1089C>G n.998C>G c.7506C>G (p.Asp2502Glu) c.3474C>G (p.Asp1158Glu) c.495C>G (p.Asp165Glu) c.594C>G (p.Asp198Glu) c.7494C>G (p.Asp2498Glu) c.263C>G (n.263C>G) c.7491C>G (p.Asp2497Glu) c.7503C>G (p.Asp2501Glu) c.7482C>G (p.Asp2494Glu) c.7137C>G (p.Asp2379Glu) c.3483C>G (p.Asp1161Glu) c.7377C>G (p.Asp2459Glu) c.7368C>G (p.Asp2456Glu) c.7383C>G (p.Asp2461Glu) c.1680C>G (p.Asp560Glu) | |
X | g.31773996G>T | CA412658745 | DMD | c.2352C>A (p.Asp784Glu) c.126C>A (p.Asp42Glu) n.1167C>A n.1089C>A n.998C>A c.7506C>A (p.Asp2502Glu) c.3474C>A (p.Asp1158Glu) c.495C>A (p.Asp165Glu) c.594C>A (p.Asp198Glu) c.7494C>A (p.Asp2498Glu) c.263C>A (n.263C>A) c.7491C>A (p.Asp2497Glu) c.7503C>A (p.Asp2501Glu) c.7482C>A (p.Asp2494Glu) c.7137C>A (p.Asp2379Glu) c.3483C>A (p.Asp1161Glu) c.7377C>A (p.Asp2459Glu) c.7368C>A (p.Asp2456Glu) c.7383C>A (p.Asp2461Glu) c.1680C>A (p.Asp560Glu) | |
X | g.31773996_31774005del | CA2695232436 | DMD | c.2343_2352del (p.Met781IlefsTer8) c.117_126del (p.Met39IlefsTer8) n.1158_1167del n.1080_1089del n.989_998del c.7497_7506del (p.Met2499IlefsTer8) c.3465_3474del (p.Met1155IlefsTer8) c.486_495del (p.Met162IlefsTer8) c.585_594del (p.Met195IlefsTer8) c.7485_7494del (p.Met2495IlefsTer8) c.254_263del (n.254_263del) c.7482_7491del (p.Met2494IlefsTer8) c.7494_7503del (p.Met2498IlefsTer8) c.7473_7482del (p.Met2491IlefsTer8) c.7128_7137del (p.Met2376IlefsTer8) c.3474_3483del (p.Met1158IlefsTer8) c.7368_7377del (p.Met2456IlefsTer8) c.7359_7368del (p.Met2453IlefsTer8) c.7374_7383del (p.Met2458IlefsTer8) c.1671_1680del (p.Met557IlefsTer8) | |
X | g.31773997T>A | CA412658746 | DMD | c.2351A>T (p.Asp784Val) c.125A>T (p.Asp42Val) n.1166A>T n.1088A>T n.997A>T c.7505A>T (p.Asp2502Val) c.3473A>T (p.Asp1158Val) c.494A>T (p.Asp165Val) c.593A>T (p.Asp198Val) c.7493A>T (p.Asp2498Val) c.262A>T (n.262A>T) c.7490A>T (p.Asp2497Val) c.7502A>T (p.Asp2501Val) c.7481A>T (p.Asp2494Val) c.7136A>T (p.Asp2379Val) c.3482A>T (p.Asp1161Val) c.7376A>T (p.Asp2459Val) c.7367A>T (p.Asp2456Val) c.7382A>T (p.Asp2461Val) c.1679A>T (p.Asp560Val) | |
X | g.31773997T>C | CA412658748 | DMD | c.2351A>G (p.Asp784Gly) c.125A>G (p.Asp42Gly) n.1166A>G n.1088A>G n.997A>G c.7505A>G (p.Asp2502Gly) c.3473A>G (p.Asp1158Gly) c.494A>G (p.Asp165Gly) c.593A>G (p.Asp198Gly) c.7493A>G (p.Asp2498Gly) c.262A>G (n.262A>G) c.7490A>G (p.Asp2497Gly) c.7502A>G (p.Asp2501Gly) c.7481A>G (p.Asp2494Gly) c.7136A>G (p.Asp2379Gly) c.3482A>G (p.Asp1161Gly) c.7376A>G (p.Asp2459Gly) c.7367A>G (p.Asp2456Gly) c.7382A>G (p.Asp2461Gly) c.1679A>G (p.Asp560Gly) | dbSNP |
X | g.31773997T>G | CA412658750 | DMD | c.2351A>C (p.Asp784Ala) c.125A>C (p.Asp42Ala) n.1166A>C n.1088A>C n.997A>C c.7505A>C (p.Asp2502Ala) c.3473A>C (p.Asp1158Ala) c.494A>C (p.Asp165Ala) c.593A>C (p.Asp198Ala) c.7493A>C (p.Asp2498Ala) c.262A>C (n.262A>C) c.7490A>C (p.Asp2497Ala) c.7502A>C (p.Asp2501Ala) c.7481A>C (p.Asp2494Ala) c.7136A>C (p.Asp2379Ala) c.3482A>C (p.Asp1161Ala) c.7376A>C (p.Asp2459Ala) c.7367A>C (p.Asp2456Ala) c.7382A>C (p.Asp2461Ala) c.1679A>C (p.Asp560Ala) | |
X | g.31773997T= | CA2422548616 | DMD | c.2351A= (p.Asp784=) c.125A= (p.Asp42=) n.1166A= n.1088A= n.997A= c.7505A= (p.Asp2502=) c.3473A= (p.Asp1158=) c.494A= (p.Asp165=) c.593A= (p.Asp198=) c.7493A= (p.Asp2498=) c.262A= (n.262A=) c.7490A= (p.Asp2497=) c.7502A= (p.Asp2501=) c.7481A= (p.Asp2494=) c.7136A= (p.Asp2379=) c.3482A= (p.Asp1161=) c.7376A= (p.Asp2459=) c.7367A= (p.Asp2456=) c.7382A= (p.Asp2461=) c.1679A= (p.Asp560=) | |
X | g.31773998C>A | CA412658752 | DMD | c.2350G>T (p.Asp784Tyr) c.124G>T (p.Asp42Tyr) n.1165G>T n.1087G>T n.996G>T c.7504G>T (p.Asp2502Tyr) c.3472G>T (p.Asp1158Tyr) c.493G>T (p.Asp165Tyr) c.592G>T (p.Asp198Tyr) c.7492G>T (p.Asp2498Tyr) c.261G>T (n.261G>T) c.7489G>T (p.Asp2497Tyr) c.7501G>T (p.Asp2501Tyr) c.7480G>T (p.Asp2494Tyr) c.7135G>T (p.Asp2379Tyr) c.3481G>T (p.Asp1161Tyr) c.7375G>T (p.Asp2459Tyr) c.7366G>T (p.Asp2456Tyr) c.7381G>T (p.Asp2461Tyr) c.1678G>T (p.Asp560Tyr) | |
X | g.31773998C>G | CA412658754 | DMD | c.2350G>C (p.Asp784His) c.124G>C (p.Asp42His) n.1165G>C n.1087G>C n.996G>C c.7504G>C (p.Asp2502His) c.3472G>C (p.Asp1158His) c.493G>C (p.Asp165His) c.592G>C (p.Asp198His) c.7492G>C (p.Asp2498His) c.261G>C (n.261G>C) c.7489G>C (p.Asp2497His) c.7501G>C (p.Asp2501His) c.7480G>C (p.Asp2494His) c.7135G>C (p.Asp2379His) c.3481G>C (p.Asp1161His) c.7375G>C (p.Asp2459His) c.7366G>C (p.Asp2456His) c.7381G>C (p.Asp2461His) c.1678G>C (p.Asp560His) | |
X | g.31773998C>T | CA412658756 | DMD | c.2350G>A (p.Asp784Asn) c.124G>A (p.Asp42Asn) n.1165G>A n.1087G>A n.996G>A c.7504G>A (p.Asp2502Asn) c.3472G>A (p.Asp1158Asn) c.493G>A (p.Asp165Asn) c.592G>A (p.Asp198Asn) c.7492G>A (p.Asp2498Asn) c.261G>A (n.261G>A) c.7489G>A (p.Asp2497Asn) c.7501G>A (p.Asp2501Asn) c.7480G>A (p.Asp2494Asn) c.7135G>A (p.Asp2379Asn) c.3481G>A (p.Asp1161Asn) c.7375G>A (p.Asp2459Asn) c.7366G>A (p.Asp2456Asn) c.7381G>A (p.Asp2461Asn) c.1678G>A (p.Asp560Asn) | gnomAD v4 |
X | g.31773999A>C | CA515859304 | DMD | c.2349T>G (p.Gly783=) c.123T>G (p.Gly41=) n.1164T>G n.1086T>G n.995T>G c.7503T>G (p.Gly2501=) c.3471T>G (p.Gly1157=) c.492T>G (p.Gly164=) c.591T>G (p.Gly197=) c.7491T>G (p.Gly2497=) c.260T>G (n.260T>G) c.7488T>G (p.Gly2496=) c.7500T>G (p.Gly2500=) c.7479T>G (p.Gly2493=) c.7134T>G (p.Gly2378=) c.3480T>G (p.Gly1160=) c.7374T>G (p.Gly2458=) c.7365T>G (p.Gly2455=) c.7380T>G (p.Gly2460=) c.1677T>G (p.Gly559=) | |
X | g.31773999A>G | CA515859305 | DMD | c.2349T>C (p.Gly783=) c.123T>C (p.Gly41=) n.1164T>C n.1086T>C n.995T>C c.7503T>C (p.Gly2501=) c.3471T>C (p.Gly1157=) c.492T>C (p.Gly164=) c.591T>C (p.Gly197=) c.7491T>C (p.Gly2497=) c.260T>C (n.260T>C) c.7488T>C (p.Gly2496=) c.7500T>C (p.Gly2500=) c.7479T>C (p.Gly2493=) c.7134T>C (p.Gly2378=) c.3480T>C (p.Gly1160=) c.7374T>C (p.Gly2458=) c.7365T>C (p.Gly2455=) c.7380T>C (p.Gly2460=) c.1677T>C (p.Gly559=) | |
X | g.31773999A>T | CA515859306 | DMD | c.2349T>A (p.Gly783=) c.123T>A (p.Gly41=) n.1164T>A n.1086T>A n.995T>A c.7503T>A (p.Gly2501=) c.3471T>A (p.Gly1157=) c.492T>A (p.Gly164=) c.591T>A (p.Gly197=) c.7491T>A (p.Gly2497=) c.260T>A (n.260T>A) c.7488T>A (p.Gly2496=) c.7500T>A (p.Gly2500=) c.7479T>A (p.Gly2493=) c.7134T>A (p.Gly2378=) c.3480T>A (p.Gly1160=) c.7374T>A (p.Gly2458=) c.7365T>A (p.Gly2455=) c.7380T>A (p.Gly2460=) c.1677T>A (p.Gly559=) | gnomAD v4 |
X | g.31774000C>A | CA412658760 | DMD | c.2348G>T (p.Gly783Val) c.122G>T (p.Gly41Val) n.1163G>T n.1085G>T n.994G>T c.7502G>T (p.Gly2501Val) c.3470G>T (p.Gly1157Val) c.491G>T (p.Gly164Val) c.590G>T (p.Gly197Val) c.7490G>T (p.Gly2497Val) c.259G>T (n.259G>T) c.7487G>T (p.Gly2496Val) c.7499G>T (p.Gly2500Val) c.7478G>T (p.Gly2493Val) c.7133G>T (p.Gly2378Val) c.3479G>T (p.Gly1160Val) c.7373G>T (p.Gly2458Val) c.7364G>T (p.Gly2455Val) c.7379G>T (p.Gly2460Val) c.1676G>T (p.Gly559Val) | |
X | g.31774000C= | CA2422548617 | DMD | c.2348G= (p.Gly783=) c.122G= (p.Gly41=) n.1163G= n.1085G= n.994G= c.7502G= (p.Gly2501=) c.3470G= (p.Gly1157=) c.491G= (p.Gly164=) c.590G= (p.Gly197=) c.7490G= (p.Gly2497=) c.259G= (n.259G=) c.7487G= (p.Gly2496=) c.7499G= (p.Gly2500=) c.7478G= (p.Gly2493=) c.7133G= (p.Gly2378=) c.3479G= (p.Gly1160=) c.7373G= (p.Gly2458=) c.7364G= (p.Gly2455=) c.7379G= (p.Gly2460=) c.1676G= (p.Gly559=) | |
X | g.31774000C>G | CA412658759 | DMD | c.2348G>C (p.Gly783Ala) c.122G>C (p.Gly41Ala) n.1163G>C n.1085G>C n.994G>C c.7502G>C (p.Gly2501Ala) c.3470G>C (p.Gly1157Ala) c.491G>C (p.Gly164Ala) c.590G>C (p.Gly197Ala) c.7490G>C (p.Gly2497Ala) c.259G>C (n.259G>C) c.7487G>C (p.Gly2496Ala) c.7499G>C (p.Gly2500Ala) c.7478G>C (p.Gly2493Ala) c.7133G>C (p.Gly2378Ala) c.3479G>C (p.Gly1160Ala) c.7373G>C (p.Gly2458Ala) c.7364G>C (p.Gly2455Ala) c.7379G>C (p.Gly2460Ala) c.1676G>C (p.Gly559Ala) | |
X | g.31774000C>T | CA10378269 | DMD | c.2348G>A (p.Gly783Asp) c.122G>A (p.Gly41Asp) n.1163G>A n.1085G>A n.994G>A c.7502G>A (p.Gly2501Asp) c.3470G>A (p.Gly1157Asp) c.491G>A (p.Gly164Asp) c.590G>A (p.Gly197Asp) c.7490G>A (p.Gly2497Asp) c.259G>A (n.259G>A) c.7487G>A (p.Gly2496Asp) c.7499G>A (p.Gly2500Asp) c.7478G>A (p.Gly2493Asp) c.7133G>A (p.Gly2378Asp) c.3479G>A (p.Gly1160Asp) c.7373G>A (p.Gly2458Asp) c.7364G>A (p.Gly2455Asp) c.7379G>A (p.Gly2460Asp) c.1676G>A (p.Gly559Asp) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.31774001C>A | CA412658763 | DMD | c.2347G>T (p.Gly783Cys) c.121G>T (p.Gly41Cys) n.1162G>T n.1084G>T n.993G>T c.7501G>T (p.Gly2501Cys) c.3469G>T (p.Gly1157Cys) c.490G>T (p.Gly164Cys) c.589G>T (p.Gly197Cys) c.7489G>T (p.Gly2497Cys) c.258G>T (n.258G>T) c.7486G>T (p.Gly2496Cys) c.7498G>T (p.Gly2500Cys) c.7477G>T (p.Gly2493Cys) c.7132G>T (p.Gly2378Cys) c.3478G>T (p.Gly1160Cys) c.7372G>T (p.Gly2458Cys) c.7363G>T (p.Gly2455Cys) c.7378G>T (p.Gly2460Cys) c.1675G>T (p.Gly559Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774001C= | CA2422548618 | DMD | c.2347G= (p.Gly783=) c.121G= (p.Gly41=) n.1162G= n.1084G= n.993G= c.7501G= (p.Gly2501=) c.3469G= (p.Gly1157=) c.490G= (p.Gly164=) c.589G= (p.Gly197=) c.7489G= (p.Gly2497=) c.258G= (n.258G=) c.7486G= (p.Gly2496=) c.7498G= (p.Gly2500=) c.7477G= (p.Gly2493=) c.7132G= (p.Gly2378=) c.3478G= (p.Gly1160=) c.7372G= (p.Gly2458=) c.7363G= (p.Gly2455=) c.7378G= (p.Gly2460=) c.1675G= (p.Gly559=) | |
X | g.31774001C>G | CA412658765 | DMD | c.2347G>C (p.Gly783Arg) c.121G>C (p.Gly41Arg) n.1162G>C n.1084G>C n.993G>C c.7501G>C (p.Gly2501Arg) c.3469G>C (p.Gly1157Arg) c.490G>C (p.Gly164Arg) c.589G>C (p.Gly197Arg) c.7489G>C (p.Gly2497Arg) c.258G>C (n.258G>C) c.7486G>C (p.Gly2496Arg) c.7498G>C (p.Gly2500Arg) c.7477G>C (p.Gly2493Arg) c.7132G>C (p.Gly2378Arg) c.3478G>C (p.Gly1160Arg) c.7372G>C (p.Gly2458Arg) c.7363G>C (p.Gly2455Arg) c.7378G>C (p.Gly2460Arg) c.1675G>C (p.Gly559Arg) | |
X | g.31774001C>T | CA412658766 | DMD | c.2347G>A (p.Gly783Ser) c.121G>A (p.Gly41Ser) n.1162G>A n.1084G>A n.993G>A c.7501G>A (p.Gly2501Ser) c.3469G>A (p.Gly1157Ser) c.490G>A (p.Gly164Ser) c.589G>A (p.Gly197Ser) c.7489G>A (p.Gly2497Ser) c.258G>A (n.258G>A) c.7486G>A (p.Gly2496Ser) c.7498G>A (p.Gly2500Ser) c.7477G>A (p.Gly2493Ser) c.7132G>A (p.Gly2378Ser) c.3478G>A (p.Gly1160Ser) c.7372G>A (p.Gly2458Ser) c.7363G>A (p.Gly2455Ser) c.7378G>A (p.Gly2460Ser) c.1675G>A (p.Gly559Ser) | |
X | g.31774002C>A | CA515859307 | DMD | c.2346G>T (p.Val782=) c.120G>T (p.Val40=) n.1161G>T n.1083G>T n.992G>T c.7500G>T (p.Val2500=) c.3468G>T (p.Val1156=) c.489G>T (p.Val163=) c.588G>T (p.Val196=) c.7488G>T (p.Val2496=) c.257G>T (n.257G>T) c.7485G>T (p.Val2495=) c.7497G>T (p.Val2499=) c.7476G>T (p.Val2492=) c.7131G>T (p.Val2377=) c.3477G>T (p.Val1159=) c.7371G>T (p.Val2457=) c.7362G>T (p.Val2454=) c.7377G>T (p.Val2459=) c.1674G>T (p.Val558=) | |
X | g.31774002C= | CA2422548619 | DMD | c.2346G= (p.Val782=) c.120G= (p.Val40=) n.1161G= n.1083G= n.992G= c.7500G= (p.Val2500=) c.3468G= (p.Val1156=) c.489G= (p.Val163=) c.588G= (p.Val196=) c.7488G= (p.Val2496=) c.257G= (n.257G=) c.7485G= (p.Val2495=) c.7497G= (p.Val2499=) c.7476G= (p.Val2492=) c.7131G= (p.Val2377=) c.3477G= (p.Val1159=) c.7371G= (p.Val2457=) c.7362G= (p.Val2454=) c.7377G= (p.Val2459=) c.1674G= (p.Val558=) | |
X | g.31774002C>G | CA515859309 | DMD | c.2346G>C (p.Val782=) c.120G>C (p.Val40=) n.1161G>C n.1083G>C n.992G>C c.7500G>C (p.Val2500=) c.3468G>C (p.Val1156=) c.489G>C (p.Val163=) c.588G>C (p.Val196=) c.7488G>C (p.Val2496=) c.257G>C (n.257G>C) c.7485G>C (p.Val2495=) c.7497G>C (p.Val2499=) c.7476G>C (p.Val2492=) c.7131G>C (p.Val2377=) c.3477G>C (p.Val1159=) c.7371G>C (p.Val2457=) c.7362G>C (p.Val2454=) c.7377G>C (p.Val2459=) c.1674G>C (p.Val558=) | |
X | g.31774002C>T | CA515859308 | DMD | c.2346G>A (p.Val782=) c.120G>A (p.Val40=) n.1161G>A n.1083G>A n.992G>A c.7500G>A (p.Val2500=) c.3468G>A (p.Val1156=) c.489G>A (p.Val163=) c.588G>A (p.Val196=) c.7488G>A (p.Val2496=) c.257G>A (n.257G>A) c.7485G>A (p.Val2495=) c.7497G>A (p.Val2499=) c.7476G>A (p.Val2492=) c.7131G>A (p.Val2377=) c.3477G>A (p.Val1159=) c.7371G>A (p.Val2457=) c.7362G>A (p.Val2454=) c.7377G>A (p.Val2459=) c.1674G>A (p.Val558=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774003A= | CA2422548620 | DMD | c.2345T= (p.Val782=) c.119T= (p.Val40=) n.1160T= n.1082T= n.991T= c.7499T= (p.Val2500=) c.3467T= (p.Val1156=) c.488T= (p.Val163=) c.587T= (p.Val196=) c.7487T= (p.Val2496=) c.256T= (n.256T=) c.7484T= (p.Val2495=) c.7496T= (p.Val2499=) c.7475T= (p.Val2492=) c.7130T= (p.Val2377=) c.3476T= (p.Val1159=) c.7370T= (p.Val2457=) c.7361T= (p.Val2454=) c.7376T= (p.Val2459=) c.1673T= (p.Val558=) | |
X | g.31774003A>C | CA412658769 | DMD | c.2345T>G (p.Val782Gly) c.119T>G (p.Val40Gly) n.1160T>G n.1082T>G n.991T>G c.7499T>G (p.Val2500Gly) c.3467T>G (p.Val1156Gly) c.488T>G (p.Val163Gly) c.587T>G (p.Val196Gly) c.7487T>G (p.Val2496Gly) c.256T>G (n.256T>G) c.7484T>G (p.Val2495Gly) c.7496T>G (p.Val2499Gly) c.7475T>G (p.Val2492Gly) c.7130T>G (p.Val2377Gly) c.3476T>G (p.Val1159Gly) c.7370T>G (p.Val2457Gly) c.7361T>G (p.Val2454Gly) c.7376T>G (p.Val2459Gly) c.1673T>G (p.Val558Gly) | |
X | g.31774003A>G | CA328470488 | DMD | c.2345T>C (p.Val782Ala) c.119T>C (p.Val40Ala) n.1160T>C n.1082T>C n.991T>C c.7499T>C (p.Val2500Ala) c.3467T>C (p.Val1156Ala) c.488T>C (p.Val163Ala) c.587T>C (p.Val196Ala) c.7487T>C (p.Val2496Ala) c.256T>C (n.256T>C) c.7484T>C (p.Val2495Ala) c.7496T>C (p.Val2499Ala) c.7475T>C (p.Val2492Ala) c.7130T>C (p.Val2377Ala) c.3476T>C (p.Val1159Ala) c.7370T>C (p.Val2457Ala) c.7361T>C (p.Val2454Ala) c.7376T>C (p.Val2459Ala) c.1673T>C (p.Val558Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774003A>T | CA412658772 | DMD | c.2345T>A (p.Val782Glu) c.119T>A (p.Val40Glu) n.1160T>A n.1082T>A n.991T>A c.7499T>A (p.Val2500Glu) c.3467T>A (p.Val1156Glu) c.488T>A (p.Val163Glu) c.587T>A (p.Val196Glu) c.7487T>A (p.Val2496Glu) c.256T>A (n.256T>A) c.7484T>A (p.Val2495Glu) c.7496T>A (p.Val2499Glu) c.7475T>A (p.Val2492Glu) c.7130T>A (p.Val2377Glu) c.3476T>A (p.Val1159Glu) c.7370T>A (p.Val2457Glu) c.7361T>A (p.Val2454Glu) c.7376T>A (p.Val2459Glu) c.1673T>A (p.Val558Glu) | |
X | g.31774004C>A | CA412658774 | DMD | c.2344G>T (p.Val782Leu) c.118G>T (p.Val40Leu) n.1159G>T n.1081G>T n.990G>T c.7498G>T (p.Val2500Leu) c.3466G>T (p.Val1156Leu) c.487G>T (p.Val163Leu) c.586G>T (p.Val196Leu) c.7486G>T (p.Val2496Leu) c.255G>T (n.255G>T) c.7483G>T (p.Val2495Leu) c.7495G>T (p.Val2499Leu) c.7474G>T (p.Val2492Leu) c.7129G>T (p.Val2377Leu) c.3475G>T (p.Val1159Leu) c.7369G>T (p.Val2457Leu) c.7360G>T (p.Val2454Leu) c.7375G>T (p.Val2459Leu) c.1672G>T (p.Val558Leu) | |
X | g.31774004C= | CA2422548621 | DMD | c.2344G= (p.Val782=) c.118G= (p.Val40=) n.1159G= n.1081G= n.990G= c.7498G= (p.Val2500=) c.3466G= (p.Val1156=) c.487G= (p.Val163=) c.586G= (p.Val196=) c.7486G= (p.Val2496=) c.255G= (n.255G=) c.7483G= (p.Val2495=) c.7495G= (p.Val2499=) c.7474G= (p.Val2492=) c.7129G= (p.Val2377=) c.3475G= (p.Val1159=) c.7369G= (p.Val2457=) c.7360G= (p.Val2454=) c.7375G= (p.Val2459=) c.1672G= (p.Val558=) | |
X | g.31774004C>G | CA412658775 | DMD | c.2344G>C (p.Val782Leu) c.118G>C (p.Val40Leu) n.1159G>C n.1081G>C n.990G>C c.7498G>C (p.Val2500Leu) c.3466G>C (p.Val1156Leu) c.487G>C (p.Val163Leu) c.586G>C (p.Val196Leu) c.7486G>C (p.Val2496Leu) c.255G>C (n.255G>C) c.7483G>C (p.Val2495Leu) c.7495G>C (p.Val2499Leu) c.7474G>C (p.Val2492Leu) c.7129G>C (p.Val2377Leu) c.3475G>C (p.Val1159Leu) c.7369G>C (p.Val2457Leu) c.7360G>C (p.Val2454Leu) c.7375G>C (p.Val2459Leu) c.1672G>C (p.Val558Leu) | |
X | g.31774004C>T | CA412658777 | DMD | c.2344G>A (p.Val782Met) c.118G>A (p.Val40Met) n.1159G>A n.1081G>A n.990G>A c.7498G>A (p.Val2500Met) c.3466G>A (p.Val1156Met) c.487G>A (p.Val163Met) c.586G>A (p.Val196Met) c.7486G>A (p.Val2496Met) c.255G>A (n.255G>A) c.7483G>A (p.Val2495Met) c.7495G>A (p.Val2499Met) c.7474G>A (p.Val2492Met) c.7129G>A (p.Val2377Met) c.3475G>A (p.Val1159Met) c.7369G>A (p.Val2457Met) c.7360G>A (p.Val2454Met) c.7375G>A (p.Val2459Met) c.1672G>A (p.Val558Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774005C>A | CA412658779 | DMD | c.2343G>T (p.Met781Ile) c.117G>T (p.Met39Ile) n.1158G>T n.1080G>T n.989G>T c.7497G>T (p.Met2499Ile) c.3465G>T (p.Met1155Ile) c.486G>T (p.Met162Ile) c.585G>T (p.Met195Ile) c.7485G>T (p.Met2495Ile) c.254G>T (n.254G>T) c.7482G>T (p.Met2494Ile) c.7494G>T (p.Met2498Ile) c.7473G>T (p.Met2491Ile) c.7128G>T (p.Met2376Ile) c.3474G>T (p.Met1158Ile) c.7368G>T (p.Met2456Ile) c.7359G>T (p.Met2453Ile) c.7374G>T (p.Met2458Ile) c.1671G>T (p.Met557Ile) | |
X | g.31774005C>G | CA412658781 | DMD | c.2343G>C (p.Met781Ile) c.117G>C (p.Met39Ile) n.1158G>C n.1080G>C n.989G>C c.7497G>C (p.Met2499Ile) c.3465G>C (p.Met1155Ile) c.486G>C (p.Met162Ile) c.585G>C (p.Met195Ile) c.7485G>C (p.Met2495Ile) c.254G>C (n.254G>C) c.7482G>C (p.Met2494Ile) c.7494G>C (p.Met2498Ile) c.7473G>C (p.Met2491Ile) c.7128G>C (p.Met2376Ile) c.3474G>C (p.Met1158Ile) c.7368G>C (p.Met2456Ile) c.7359G>C (p.Met2453Ile) c.7374G>C (p.Met2458Ile) c.1671G>C (p.Met557Ile) | |
X | g.31774005C>T | CA412658782 | DMD | c.2343G>A (p.Met781Ile) c.117G>A (p.Met39Ile) n.1158G>A n.1080G>A n.989G>A c.7497G>A (p.Met2499Ile) c.3465G>A (p.Met1155Ile) c.486G>A (p.Met162Ile) c.585G>A (p.Met195Ile) c.7485G>A (p.Met2495Ile) c.254G>A (n.254G>A) c.7482G>A (p.Met2494Ile) c.7494G>A (p.Met2498Ile) c.7473G>A (p.Met2491Ile) c.7128G>A (p.Met2376Ile) c.3474G>A (p.Met1158Ile) c.7368G>A (p.Met2456Ile) c.7359G>A (p.Met2453Ile) c.7374G>A (p.Met2458Ile) c.1671G>A (p.Met557Ile) | |
X | g.31774006A>C | CA412658784 | DMD | c.2342T>G (p.Met781Arg) c.116T>G (p.Met39Arg) n.1157T>G n.1079T>G n.988T>G c.7496T>G (p.Met2499Arg) c.3464T>G (p.Met1155Arg) c.485T>G (p.Met162Arg) c.584T>G (p.Met195Arg) c.7484T>G (p.Met2495Arg) c.253T>G (n.253T>G) c.7481T>G (p.Met2494Arg) c.7493T>G (p.Met2498Arg) c.7472T>G (p.Met2491Arg) c.7127T>G (p.Met2376Arg) c.3473T>G (p.Met1158Arg) c.7367T>G (p.Met2456Arg) c.7358T>G (p.Met2453Arg) c.7373T>G (p.Met2458Arg) c.1670T>G (p.Met557Arg) | |
X | g.31774006A>G | CA412658785 | DMD | c.2342T>C (p.Met781Thr) c.116T>C (p.Met39Thr) n.1157T>C n.1079T>C n.988T>C c.7496T>C (p.Met2499Thr) c.3464T>C (p.Met1155Thr) c.485T>C (p.Met162Thr) c.584T>C (p.Met195Thr) c.7484T>C (p.Met2495Thr) c.253T>C (n.253T>C) c.7481T>C (p.Met2494Thr) c.7493T>C (p.Met2498Thr) c.7472T>C (p.Met2491Thr) c.7127T>C (p.Met2376Thr) c.3473T>C (p.Met1158Thr) c.7367T>C (p.Met2456Thr) c.7358T>C (p.Met2453Thr) c.7373T>C (p.Met2458Thr) c.1670T>C (p.Met557Thr) | gnomAD v4 |
X | g.31774006A>T | CA412658783 | DMD | c.2342T>A (p.Met781Lys) c.116T>A (p.Met39Lys) n.1157T>A n.1079T>A n.988T>A c.7496T>A (p.Met2499Lys) c.3464T>A (p.Met1155Lys) c.485T>A (p.Met162Lys) c.584T>A (p.Met195Lys) c.7484T>A (p.Met2495Lys) c.253T>A (n.253T>A) c.7481T>A (p.Met2494Lys) c.7493T>A (p.Met2498Lys) c.7472T>A (p.Met2491Lys) c.7127T>A (p.Met2376Lys) c.3473T>A (p.Met1158Lys) c.7367T>A (p.Met2456Lys) c.7358T>A (p.Met2453Lys) c.7373T>A (p.Met2458Lys) c.1670T>A (p.Met557Lys) | |
X | g.31774007T>A | CA412658786 | DMD | c.2341A>T (p.Met781Leu) c.115A>T (p.Met39Leu) n.1156A>T n.1078A>T n.987A>T c.7495A>T (p.Met2499Leu) c.3463A>T (p.Met1155Leu) c.484A>T (p.Met162Leu) c.583A>T (p.Met195Leu) c.7483A>T (p.Met2495Leu) c.252A>T (n.252A>T) c.7480A>T (p.Met2494Leu) c.7492A>T (p.Met2498Leu) c.7471A>T (p.Met2491Leu) c.7126A>T (p.Met2376Leu) c.3472A>T (p.Met1158Leu) c.7366A>T (p.Met2456Leu) c.7357A>T (p.Met2453Leu) c.7372A>T (p.Met2458Leu) c.1669A>T (p.Met557Leu) | |
X | g.31774007T>C | CA412658787 | DMD | c.2341A>G (p.Met781Val) c.115A>G (p.Met39Val) n.1156A>G n.1078A>G n.987A>G c.7495A>G (p.Met2499Val) c.3463A>G (p.Met1155Val) c.484A>G (p.Met162Val) c.583A>G (p.Met195Val) c.7483A>G (p.Met2495Val) c.252A>G (n.252A>G) c.7480A>G (p.Met2494Val) c.7492A>G (p.Met2498Val) c.7471A>G (p.Met2491Val) c.7126A>G (p.Met2376Val) c.3472A>G (p.Met1158Val) c.7366A>G (p.Met2456Val) c.7357A>G (p.Met2453Val) c.7372A>G (p.Met2458Val) c.1669A>G (p.Met557Val) | |
X | g.31774007T>G | CA412658790 | DMD | c.2341A>C (p.Met781Leu) c.115A>C (p.Met39Leu) n.1156A>C n.1078A>C n.987A>C c.7495A>C (p.Met2499Leu) c.3463A>C (p.Met1155Leu) c.484A>C (p.Met162Leu) c.583A>C (p.Met195Leu) c.7483A>C (p.Met2495Leu) c.252A>C (n.252A>C) c.7480A>C (p.Met2494Leu) c.7492A>C (p.Met2498Leu) c.7471A>C (p.Met2491Leu) c.7126A>C (p.Met2376Leu) c.3472A>C (p.Met1158Leu) c.7366A>C (p.Met2456Leu) c.7357A>C (p.Met2453Leu) c.7372A>C (p.Met2458Leu) c.1669A>C (p.Met557Leu) | |
X | g.31774008C>A | CA515859310 | DMD | c.2340G>T (p.Val780=) c.114G>T (p.Val38=) n.1155G>T n.1077G>T n.986G>T c.7494G>T (p.Val2498=) c.3462G>T (p.Val1154=) c.483G>T (p.Val161=) c.582G>T (p.Val194=) c.7482G>T (p.Val2494=) c.251G>T (n.251G>T) c.7479G>T (p.Val2493=) c.7491G>T (p.Val2497=) c.7470G>T (p.Val2490=) c.7125G>T (p.Val2375=) c.3471G>T (p.Val1157=) c.7365G>T (p.Val2455=) c.7356G>T (p.Val2452=) c.7371G>T (p.Val2457=) c.1668G>T (p.Val556=) | |
X | g.31774008C= | CA2422548622 | DMD | c.2340G= (p.Val780=) c.114G= (p.Val38=) n.1155G= n.1077G= n.986G= c.7494G= (p.Val2498=) c.3462G= (p.Val1154=) c.483G= (p.Val161=) c.582G= (p.Val194=) c.7482G= (p.Val2494=) c.251G= (n.251G=) c.7479G= (p.Val2493=) c.7491G= (p.Val2497=) c.7470G= (p.Val2490=) c.7125G= (p.Val2375=) c.3471G= (p.Val1157=) c.7365G= (p.Val2455=) c.7356G= (p.Val2452=) c.7371G= (p.Val2457=) c.1668G= (p.Val556=) | |
X | g.31774008C>G | CA515859311 | DMD | c.2340G>C (p.Val780=) c.114G>C (p.Val38=) n.1155G>C n.1077G>C n.986G>C c.7494G>C (p.Val2498=) c.3462G>C (p.Val1154=) c.483G>C (p.Val161=) c.582G>C (p.Val194=) c.7482G>C (p.Val2494=) c.251G>C (n.251G>C) c.7479G>C (p.Val2493=) c.7491G>C (p.Val2497=) c.7470G>C (p.Val2490=) c.7125G>C (p.Val2375=) c.3471G>C (p.Val1157=) c.7365G>C (p.Val2455=) c.7356G>C (p.Val2452=) c.7371G>C (p.Val2457=) c.1668G>C (p.Val556=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774008C>T | CA328470489 | DMD | c.2340G>A (p.Val780=) c.114G>A (p.Val38=) n.1155G>A n.1077G>A n.986G>A c.7494G>A (p.Val2498=) c.3462G>A (p.Val1154=) c.483G>A (p.Val161=) c.582G>A (p.Val194=) c.7482G>A (p.Val2494=) c.251G>A (n.251G>A) c.7479G>A (p.Val2493=) c.7491G>A (p.Val2497=) c.7470G>A (p.Val2490=) c.7125G>A (p.Val2375=) c.3471G>A (p.Val1157=) c.7365G>A (p.Val2455=) c.7356G>A (p.Val2452=) c.7371G>A (p.Val2457=) c.1668G>A (p.Val556=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774009A>C | CA412658792 | DMD | c.2339T>G (p.Val780Gly) c.113T>G (p.Val38Gly) n.1154T>G n.1076T>G n.985T>G c.7493T>G (p.Val2498Gly) c.3461T>G (p.Val1154Gly) c.482T>G (p.Val161Gly) c.581T>G (p.Val194Gly) c.7481T>G (p.Val2494Gly) c.250T>G (n.250T>G) c.7478T>G (p.Val2493Gly) c.7490T>G (p.Val2497Gly) c.7469T>G (p.Val2490Gly) c.7124T>G (p.Val2375Gly) c.3470T>G (p.Val1157Gly) c.7364T>G (p.Val2455Gly) c.7355T>G (p.Val2452Gly) c.7370T>G (p.Val2457Gly) c.1667T>G (p.Val556Gly) | |
X | g.31774009A>G | CA412658794 | DMD | c.2339T>C (p.Val780Ala) c.113T>C (p.Val38Ala) n.1154T>C n.1076T>C n.985T>C c.7493T>C (p.Val2498Ala) c.3461T>C (p.Val1154Ala) c.482T>C (p.Val161Ala) c.581T>C (p.Val194Ala) c.7481T>C (p.Val2494Ala) c.250T>C (n.250T>C) c.7478T>C (p.Val2493Ala) c.7490T>C (p.Val2497Ala) c.7469T>C (p.Val2490Ala) c.7124T>C (p.Val2375Ala) c.3470T>C (p.Val1157Ala) c.7364T>C (p.Val2455Ala) c.7355T>C (p.Val2452Ala) c.7370T>C (p.Val2457Ala) c.1667T>C (p.Val556Ala) | |
X | g.31774009A>T | CA412658795 | DMD | c.2339T>A (p.Val780Glu) c.113T>A (p.Val38Glu) n.1154T>A n.1076T>A n.985T>A c.7493T>A (p.Val2498Glu) c.3461T>A (p.Val1154Glu) c.482T>A (p.Val161Glu) c.581T>A (p.Val194Glu) c.7481T>A (p.Val2494Glu) c.250T>A (n.250T>A) c.7478T>A (p.Val2493Glu) c.7490T>A (p.Val2497Glu) c.7469T>A (p.Val2490Glu) c.7124T>A (p.Val2375Glu) c.3470T>A (p.Val1157Glu) c.7364T>A (p.Val2455Glu) c.7355T>A (p.Val2452Glu) c.7370T>A (p.Val2457Glu) c.1667T>A (p.Val556Glu) | ClinVar |
X | g.31774010C>A | CA412658797 | DMD | c.2338G>T (p.Val780Leu) c.112G>T (p.Val38Leu) n.1153G>T n.1075G>T n.984G>T c.7492G>T (p.Val2498Leu) c.3460G>T (p.Val1154Leu) c.481G>T (p.Val161Leu) c.580G>T (p.Val194Leu) c.7480G>T (p.Val2494Leu) c.249G>T (n.249G>T) c.7477G>T (p.Val2493Leu) c.7489G>T (p.Val2497Leu) c.7468G>T (p.Val2490Leu) c.7123G>T (p.Val2375Leu) c.3469G>T (p.Val1157Leu) c.7363G>T (p.Val2455Leu) c.7354G>T (p.Val2452Leu) c.7369G>T (p.Val2457Leu) c.1666G>T (p.Val556Leu) | gnomAD v4 |
X | g.31774010C= | CA2422548623 | DMD | c.2338G= (p.Val780=) c.112G= (p.Val38=) n.1153G= n.1075G= n.984G= c.7492G= (p.Val2498=) c.3460G= (p.Val1154=) c.481G= (p.Val161=) c.580G= (p.Val194=) c.7480G= (p.Val2494=) c.249G= (n.249G=) c.7477G= (p.Val2493=) c.7489G= (p.Val2497=) c.7468G= (p.Val2490=) c.7123G= (p.Val2375=) c.3469G= (p.Val1157=) c.7363G= (p.Val2455=) c.7354G= (p.Val2452=) c.7369G= (p.Val2457=) c.1666G= (p.Val556=) | |
X | g.31774010C>G | CA412658800 | DMD | c.2338G>C (p.Val780Leu) c.112G>C (p.Val38Leu) n.1153G>C n.1075G>C n.984G>C c.7492G>C (p.Val2498Leu) c.3460G>C (p.Val1154Leu) c.481G>C (p.Val161Leu) c.580G>C (p.Val194Leu) c.7480G>C (p.Val2494Leu) c.249G>C (n.249G>C) c.7477G>C (p.Val2493Leu) c.7489G>C (p.Val2497Leu) c.7468G>C (p.Val2490Leu) c.7123G>C (p.Val2375Leu) c.3469G>C (p.Val1157Leu) c.7363G>C (p.Val2455Leu) c.7354G>C (p.Val2452Leu) c.7369G>C (p.Val2457Leu) c.1666G>C (p.Val556Leu) | |
X | g.31774010C>T | CA328470490 | DMD | c.2338G>A (p.Val780Met) c.112G>A (p.Val38Met) n.1153G>A n.1075G>A n.984G>A c.7492G>A (p.Val2498Met) c.3460G>A (p.Val1154Met) c.481G>A (p.Val161Met) c.580G>A (p.Val194Met) c.7480G>A (p.Val2494Met) c.249G>A (n.249G>A) c.7477G>A (p.Val2493Met) c.7489G>A (p.Val2497Met) c.7468G>A (p.Val2490Met) c.7123G>A (p.Val2375Met) c.3469G>A (p.Val1157Met) c.7363G>A (p.Val2455Met) c.7354G>A (p.Val2452Met) c.7369G>A (p.Val2457Met) c.1666G>A (p.Val556Met) | dbSNP gnomAD v4 |
X | g.31774011C>A | CA412658802 | DMD | c.2337G>T (p.Arg779Ser) c.111G>T (p.Arg37Ser) n.1152G>T n.1074G>T n.983G>T c.7491G>T (p.Arg2497Ser) c.3459G>T (p.Arg1153Ser) c.480G>T (p.Arg160Ser) c.579G>T (p.Arg193Ser) c.7479G>T (p.Arg2493Ser) c.248G>T (n.248G>T) c.7476G>T (p.Arg2492Ser) c.7488G>T (p.Arg2496Ser) c.7467G>T (p.Arg2489Ser) c.7122G>T (p.Arg2374Ser) c.3468G>T (p.Arg1156Ser) c.7362G>T (p.Arg2454Ser) c.7353G>T (p.Arg2451Ser) c.7368G>T (p.Arg2456Ser) c.1665G>T (p.Arg555Ser) | |
X | g.31774011C>G | CA412658804 | DMD | c.2337G>C (p.Arg779Ser) c.111G>C (p.Arg37Ser) n.1152G>C n.1074G>C n.983G>C c.7491G>C (p.Arg2497Ser) c.3459G>C (p.Arg1153Ser) c.480G>C (p.Arg160Ser) c.579G>C (p.Arg193Ser) c.7479G>C (p.Arg2493Ser) c.248G>C (n.248G>C) c.7476G>C (p.Arg2492Ser) c.7488G>C (p.Arg2496Ser) c.7467G>C (p.Arg2489Ser) c.7122G>C (p.Arg2374Ser) c.3468G>C (p.Arg1156Ser) c.7362G>C (p.Arg2454Ser) c.7353G>C (p.Arg2451Ser) c.7368G>C (p.Arg2456Ser) c.1665G>C (p.Arg555Ser) | ClinVar |
X | g.31774011C>T | CA515859312 | DMD | c.2337G>A (p.Arg779=) c.111G>A (p.Arg37=) n.1152G>A n.1074G>A n.983G>A c.7491G>A (p.Arg2497=) c.3459G>A (p.Arg1153=) c.480G>A (p.Arg160=) c.579G>A (p.Arg193=) c.7479G>A (p.Arg2493=) c.248G>A (n.248G>A) c.7476G>A (p.Arg2492=) c.7488G>A (p.Arg2496=) c.7467G>A (p.Arg2489=) c.7122G>A (p.Arg2374=) c.3468G>A (p.Arg1156=) c.7362G>A (p.Arg2454=) c.7353G>A (p.Arg2451=) c.7368G>A (p.Arg2456=) c.1665G>A (p.Arg555=) | ClinVar dbSNP |
X | g.31774012C>A | CA412658806 | DMD | c.2336G>T (p.Arg779Met) c.110G>T (p.Arg37Met) n.1151G>T n.1073G>T n.982G>T c.7490G>T (p.Arg2497Met) c.3458G>T (p.Arg1153Met) c.479G>T (p.Arg160Met) c.578G>T (p.Arg193Met) c.7478G>T (p.Arg2493Met) c.247G>T (n.247G>T) c.7475G>T (p.Arg2492Met) c.7487G>T (p.Arg2496Met) c.7466G>T (p.Arg2489Met) c.7121G>T (p.Arg2374Met) c.3467G>T (p.Arg1156Met) c.7361G>T (p.Arg2454Met) c.7352G>T (p.Arg2451Met) c.7367G>T (p.Arg2456Met) c.1664G>T (p.Arg555Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.31774012C= | CA2422548624 | DMD | c.2336G= (p.Arg779=) c.110G= (p.Arg37=) n.1151G= n.1073G= n.982G= c.7490G= (p.Arg2497=) c.3458G= (p.Arg1153=) c.479G= (p.Arg160=) c.578G= (p.Arg193=) c.7478G= (p.Arg2493=) c.247G= (n.247G=) c.7475G= (p.Arg2492=) c.7487G= (p.Arg2496=) c.7466G= (p.Arg2489=) c.7121G= (p.Arg2374=) c.3467G= (p.Arg1156=) c.7361G= (p.Arg2454=) c.7352G= (p.Arg2451=) c.7367G= (p.Arg2456=) c.1664G= (p.Arg555=) | |
X | g.31774012C>G | CA412658807 | DMD | c.2336G>C (p.Arg779Thr) c.110G>C (p.Arg37Thr) n.1151G>C n.1073G>C n.982G>C c.7490G>C (p.Arg2497Thr) c.3458G>C (p.Arg1153Thr) c.479G>C (p.Arg160Thr) c.578G>C (p.Arg193Thr) c.7478G>C (p.Arg2493Thr) c.247G>C (n.247G>C) c.7475G>C (p.Arg2492Thr) c.7487G>C (p.Arg2496Thr) c.7466G>C (p.Arg2489Thr) c.7121G>C (p.Arg2374Thr) c.3467G>C (p.Arg1156Thr) c.7361G>C (p.Arg2454Thr) c.7352G>C (p.Arg2451Thr) c.7367G>C (p.Arg2456Thr) c.1664G>C (p.Arg555Thr) | |
X | g.31774012C>T | CA412658809 | DMD | c.2336G>A (p.Arg779Lys) c.110G>A (p.Arg37Lys) n.1151G>A n.1073G>A n.982G>A c.7490G>A (p.Arg2497Lys) c.3458G>A (p.Arg1153Lys) c.479G>A (p.Arg160Lys) c.578G>A (p.Arg193Lys) c.7478G>A (p.Arg2493Lys) c.247G>A (n.247G>A) c.7475G>A (p.Arg2492Lys) c.7487G>A (p.Arg2496Lys) c.7466G>A (p.Arg2489Lys) c.7121G>A (p.Arg2374Lys) c.3467G>A (p.Arg1156Lys) c.7361G>A (p.Arg2454Lys) c.7352G>A (p.Arg2451Lys) c.7367G>A (p.Arg2456Lys) c.1664G>A (p.Arg555Lys) | |
X | g.31774013T>A | CA412658811 | DMD | c.2335A>T (p.Arg779Trp) c.109A>T (p.Arg37Trp) n.1150A>T n.1072A>T n.981A>T c.7489A>T (p.Arg2497Trp) c.3457A>T (p.Arg1153Trp) c.478A>T (p.Arg160Trp) c.577A>T (p.Arg193Trp) c.7477A>T (p.Arg2493Trp) c.246A>T (n.246A>T) c.7474A>T (p.Arg2492Trp) c.7486A>T (p.Arg2496Trp) c.7465A>T (p.Arg2489Trp) c.7120A>T (p.Arg2374Trp) c.3466A>T (p.Arg1156Trp) c.7360A>T (p.Arg2454Trp) c.7351A>T (p.Arg2451Trp) c.7366A>T (p.Arg2456Trp) c.1663A>T (p.Arg555Trp) | |
X | g.31774013T>C | CA412658813 | DMD | c.2335A>G (p.Arg779Gly) c.109A>G (p.Arg37Gly) n.1150A>G n.1072A>G n.981A>G c.7489A>G (p.Arg2497Gly) c.3457A>G (p.Arg1153Gly) c.478A>G (p.Arg160Gly) c.577A>G (p.Arg193Gly) c.7477A>G (p.Arg2493Gly) c.246A>G (n.246A>G) c.7474A>G (p.Arg2492Gly) c.7486A>G (p.Arg2496Gly) c.7465A>G (p.Arg2489Gly) c.7120A>G (p.Arg2374Gly) c.3466A>G (p.Arg1156Gly) c.7360A>G (p.Arg2454Gly) c.7351A>G (p.Arg2451Gly) c.7366A>G (p.Arg2456Gly) c.1663A>G (p.Arg555Gly) | |
X | g.31774013T>G | CA515859313 | DMD | c.2335A>C (p.Arg779=) c.109A>C (p.Arg37=) n.1150A>C n.1072A>C n.981A>C c.7489A>C (p.Arg2497=) c.3457A>C (p.Arg1153=) c.478A>C (p.Arg160=) c.577A>C (p.Arg193=) c.7477A>C (p.Arg2493=) c.246A>C (n.246A>C) c.7474A>C (p.Arg2492=) c.7486A>C (p.Arg2496=) c.7465A>C (p.Arg2489=) c.7120A>C (p.Arg2374=) c.3466A>C (p.Arg1156=) c.7360A>C (p.Arg2454=) c.7351A>C (p.Arg2451=) c.7366A>C (p.Arg2456=) c.1663A>C (p.Arg555=) | |
X | g.31774014C>A | CA412658815 | DMD | c.2334G>T (p.Gln778His) c.108G>T (p.Gln36His) n.1149G>T n.1071G>T n.980G>T c.7488G>T (p.Gln2496His) c.3456G>T (p.Gln1152His) c.477G>T (p.Gln159His) c.576G>T (p.Gln192His) c.7476G>T (p.Gln2492His) c.245G>T (n.245G>T) c.7473G>T (p.Gln2491His) c.7485G>T (p.Gln2495His) c.7464G>T (p.Gln2488His) c.7119G>T (p.Gln2373His) c.3465G>T (p.Gln1155His) c.7359G>T (p.Gln2453His) c.7350G>T (p.Gln2450His) c.7365G>T (p.Gln2455His) c.1662G>T (p.Gln554His) | |
X | g.31774014C>G | CA412658817 | DMD | c.2334G>C (p.Gln778His) c.108G>C (p.Gln36His) n.1149G>C n.1071G>C n.980G>C c.7488G>C (p.Gln2496His) c.3456G>C (p.Gln1152His) c.477G>C (p.Gln159His) c.576G>C (p.Gln192His) c.7476G>C (p.Gln2492His) c.245G>C (n.245G>C) c.7473G>C (p.Gln2491His) c.7485G>C (p.Gln2495His) c.7464G>C (p.Gln2488His) c.7119G>C (p.Gln2373His) c.3465G>C (p.Gln1155His) c.7359G>C (p.Gln2453His) c.7350G>C (p.Gln2450His) c.7365G>C (p.Gln2455His) c.1662G>C (p.Gln554His) | |
X | g.31774014C>T | CA515859314 | DMD | c.2334G>A (p.Gln778=) c.108G>A (p.Gln36=) n.1149G>A n.1071G>A n.980G>A c.7488G>A (p.Gln2496=) c.3456G>A (p.Gln1152=) c.477G>A (p.Gln159=) c.576G>A (p.Gln192=) c.7476G>A (p.Gln2492=) c.245G>A (n.245G>A) c.7473G>A (p.Gln2491=) c.7485G>A (p.Gln2495=) c.7464G>A (p.Gln2488=) c.7119G>A (p.Gln2373=) c.3465G>A (p.Gln1155=) c.7359G>A (p.Gln2453=) c.7350G>A (p.Gln2450=) c.7365G>A (p.Gln2455=) c.1662G>A (p.Gln554=) | |
X | g.31774015T>A | CA412658819 | DMD | c.2333A>T (p.Gln778Leu) c.107A>T (p.Gln36Leu) n.1148A>T n.1070A>T n.979A>T c.7487A>T (p.Gln2496Leu) c.3455A>T (p.Gln1152Leu) c.476A>T (p.Gln159Leu) c.575A>T (p.Gln192Leu) c.7475A>T (p.Gln2492Leu) c.244A>T (n.244A>T) c.7472A>T (p.Gln2491Leu) c.7484A>T (p.Gln2495Leu) c.7463A>T (p.Gln2488Leu) c.7118A>T (p.Gln2373Leu) c.3464A>T (p.Gln1155Leu) c.7358A>T (p.Gln2453Leu) c.7349A>T (p.Gln2450Leu) c.7364A>T (p.Gln2455Leu) c.1661A>T (p.Gln554Leu) | |
X | g.31774015T>C | CA412658821 | DMD | c.2333A>G (p.Gln778Arg) c.107A>G (p.Gln36Arg) n.1148A>G n.1070A>G n.979A>G c.7487A>G (p.Gln2496Arg) c.3455A>G (p.Gln1152Arg) c.476A>G (p.Gln159Arg) c.575A>G (p.Gln192Arg) c.7475A>G (p.Gln2492Arg) c.244A>G (n.244A>G) c.7472A>G (p.Gln2491Arg) c.7484A>G (p.Gln2495Arg) c.7463A>G (p.Gln2488Arg) c.7118A>G (p.Gln2373Arg) c.3464A>G (p.Gln1155Arg) c.7358A>G (p.Gln2453Arg) c.7349A>G (p.Gln2450Arg) c.7364A>G (p.Gln2455Arg) c.1661A>G (p.Gln554Arg) | |
X | g.31774015T>G | CA412658822 | DMD | c.2333A>C (p.Gln778Pro) c.107A>C (p.Gln36Pro) n.1148A>C n.1070A>C n.979A>C c.7487A>C (p.Gln2496Pro) c.3455A>C (p.Gln1152Pro) c.476A>C (p.Gln159Pro) c.575A>C (p.Gln192Pro) c.7475A>C (p.Gln2492Pro) c.244A>C (n.244A>C) c.7472A>C (p.Gln2491Pro) c.7484A>C (p.Gln2495Pro) c.7463A>C (p.Gln2488Pro) c.7118A>C (p.Gln2373Pro) c.3464A>C (p.Gln1155Pro) c.7358A>C (p.Gln2453Pro) c.7349A>C (p.Gln2450Pro) c.7364A>C (p.Gln2455Pro) c.1661A>C (p.Gln554Pro) | |
X | g.31774017_31774018del | CA2830782561 | DMD | c.2332_2333del (p.Gln778GlufsTer6) c.106_107del (p.Gln36GlufsTer6) n.1147_1148del n.1069_1070del n.978_979del c.7486_7487del (p.Gln2496GlufsTer6) c.3454_3455del (p.Gln1152GlufsTer6) c.475_476del (p.Gln159GlufsTer6) c.574_575del (p.Gln192GlufsTer6) c.7474_7475del (p.Gln2492GlufsTer6) c.243_244del (n.243_244del) c.7471_7472del (p.Gln2491GlufsTer6) c.7483_7484del (p.Gln2495GlufsTer6) c.7462_7463del (p.Gln2488GlufsTer6) c.7117_7118del (p.Gln2373GlufsTer6) c.3463_3464del (p.Gln1155GlufsTer6) c.7357_7358del (p.Gln2453GlufsTer6) c.7348_7349del (p.Gln2450GlufsTer6) c.7363_7364del (p.Gln2455GlufsTer6) c.1660_1661del (p.Gln554GlufsTer6) | |
X | g.31774016G>A | CA412658825 | DMD | c.2332C>T (p.Gln778Ter) c.106C>T (p.Gln36Ter) n.1147C>T n.1069C>T n.978C>T c.7486C>T (p.Gln2496Ter) c.3454C>T (p.Gln1152Ter) c.475C>T (p.Gln159Ter) c.574C>T (p.Gln192Ter) c.7474C>T (p.Gln2492Ter) c.243C>T (n.243C>T) c.7471C>T (p.Gln2491Ter) c.7483C>T (p.Gln2495Ter) c.7462C>T (p.Gln2488Ter) c.7117C>T (p.Gln2373Ter) c.3463C>T (p.Gln1155Ter) c.7357C>T (p.Gln2453Ter) c.7348C>T (p.Gln2450Ter) c.7363C>T (p.Gln2455Ter) c.1660C>T (p.Gln554Ter) | |
X | g.31774016G>C | CA412658827 | DMD | c.2332C>G (p.Gln778Glu) c.106C>G (p.Gln36Glu) n.1147C>G n.1069C>G n.978C>G c.7486C>G (p.Gln2496Glu) c.3454C>G (p.Gln1152Glu) c.475C>G (p.Gln159Glu) c.574C>G (p.Gln192Glu) c.7474C>G (p.Gln2492Glu) c.243C>G (n.243C>G) c.7471C>G (p.Gln2491Glu) c.7483C>G (p.Gln2495Glu) c.7462C>G (p.Gln2488Glu) c.7117C>G (p.Gln2373Glu) c.3463C>G (p.Gln1155Glu) c.7357C>G (p.Gln2453Glu) c.7348C>G (p.Gln2450Glu) c.7363C>G (p.Gln2455Glu) c.1660C>G (p.Gln554Glu) | |
X | g.31774016G= | CA2422548625 | DMD | c.2332C= (p.Gln778=) c.106C= (p.Gln36=) n.1147C= n.1069C= n.978C= c.7486C= (p.Gln2496=) c.3454C= (p.Gln1152=) c.475C= (p.Gln159=) c.574C= (p.Gln192=) c.7474C= (p.Gln2492=) c.243C= (n.243C=) c.7471C= (p.Gln2491=) c.7483C= (p.Gln2495=) c.7462C= (p.Gln2488=) c.7117C= (p.Gln2373=) c.3463C= (p.Gln1155=) c.7357C= (p.Gln2453=) c.7348C= (p.Gln2450=) c.7363C= (p.Gln2455=) c.1660C= (p.Gln554=) | |
X | g.31774016G>T | CA10378270 | DMD | c.2332C>A (p.Gln778Lys) c.106C>A (p.Gln36Lys) n.1147C>A n.1069C>A n.978C>A c.7486C>A (p.Gln2496Lys) c.3454C>A (p.Gln1152Lys) c.475C>A (p.Gln159Lys) c.574C>A (p.Gln192Lys) c.7474C>A (p.Gln2492Lys) c.243C>A (n.243C>A) c.7471C>A (p.Gln2491Lys) c.7483C>A (p.Gln2495Lys) c.7462C>A (p.Gln2488Lys) c.7117C>A (p.Gln2373Lys) c.3463C>A (p.Gln1155Lys) c.7357C>A (p.Gln2453Lys) c.7348C>A (p.Gln2450Lys) c.7363C>A (p.Gln2455Lys) c.1660C>A (p.Gln554Lys) | dbSNP ExAC |
X | g.31774017T>A | CA515859315 | DMD | c.2331A>T (p.Ser777=) c.105A>T (p.Ser35=) n.1146A>T n.1068A>T n.977A>T c.7485A>T (p.Ser2495=) c.3453A>T (p.Ser1151=) c.474A>T (p.Ser158=) c.573A>T (p.Ser191=) c.7473A>T (p.Ser2491=) c.242A>T (n.242A>T) c.7470A>T (p.Ser2490=) c.7482A>T (p.Ser2494=) c.7461A>T (p.Ser2487=) c.7116A>T (p.Ser2372=) c.3462A>T (p.Ser1154=) c.7356A>T (p.Ser2452=) c.7347A>T (p.Ser2449=) c.7362A>T (p.Ser2454=) c.1659A>T (p.Ser553=) | |
X | g.31774017T>C | CA515859316 | DMD | c.2331A>G (p.Ser777=) c.105A>G (p.Ser35=) n.1146A>G n.1068A>G n.977A>G c.7485A>G (p.Ser2495=) c.3453A>G (p.Ser1151=) c.474A>G (p.Ser158=) c.573A>G (p.Ser191=) c.7473A>G (p.Ser2491=) c.242A>G (n.242A>G) c.7470A>G (p.Ser2490=) c.7482A>G (p.Ser2494=) c.7461A>G (p.Ser2487=) c.7116A>G (p.Ser2372=) c.3462A>G (p.Ser1154=) c.7356A>G (p.Ser2452=) c.7347A>G (p.Ser2449=) c.7362A>G (p.Ser2454=) c.1659A>G (p.Ser553=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31774017T>G | CA515859317 | DMD | c.2331A>C (p.Ser777=) c.105A>C (p.Ser35=) n.1146A>C n.1068A>C n.977A>C c.7485A>C (p.Ser2495=) c.3453A>C (p.Ser1151=) c.474A>C (p.Ser158=) c.573A>C (p.Ser191=) c.7473A>C (p.Ser2491=) c.242A>C (n.242A>C) c.7470A>C (p.Ser2490=) c.7482A>C (p.Ser2494=) c.7461A>C (p.Ser2487=) c.7116A>C (p.Ser2372=) c.3462A>C (p.Ser1154=) c.7356A>C (p.Ser2452=) c.7347A>C (p.Ser2449=) c.7362A>C (p.Ser2454=) c.1659A>C (p.Ser553=) | |
X | g.31774017T= | CA2422548626 | DMD | c.2331A= (p.Ser777=) c.105A= (p.Ser35=) n.1146A= n.1068A= n.977A= c.7485A= (p.Ser2495=) c.3453A= (p.Ser1151=) c.474A= (p.Ser158=) c.573A= (p.Ser191=) c.7473A= (p.Ser2491=) c.242A= (n.242A=) c.7470A= (p.Ser2490=) c.7482A= (p.Ser2494=) c.7461A= (p.Ser2487=) c.7116A= (p.Ser2372=) c.3462A= (p.Ser1154=) c.7356A= (p.Ser2452=) c.7347A= (p.Ser2449=) c.7362A= (p.Ser2454=) c.1659A= (p.Ser553=) | |
X | g.31774018G>A | CA412658830 | DMD | c.2330C>T (p.Ser777Leu) c.104C>T (p.Ser35Leu) n.1145C>T n.1067C>T n.976C>T c.7484C>T (p.Ser2495Leu) c.3452C>T (p.Ser1151Leu) c.473C>T (p.Ser158Leu) c.572C>T (p.Ser191Leu) c.7472C>T (p.Ser2491Leu) c.241C>T (n.241C>T) c.7469C>T (p.Ser2490Leu) c.7481C>T (p.Ser2494Leu) c.7460C>T (p.Ser2487Leu) c.7115C>T (p.Ser2372Leu) c.3461C>T (p.Ser1154Leu) c.7355C>T (p.Ser2452Leu) c.7346C>T (p.Ser2449Leu) c.7361C>T (p.Ser2454Leu) c.1658C>T (p.Ser553Leu) | |
X | g.31774018G>C | CA412658832 | DMD | c.2330C>G (p.Ser777Ter) c.104C>G (p.Ser35Ter) n.1145C>G n.1067C>G n.976C>G c.7484C>G (p.Ser2495Ter) c.3452C>G (p.Ser1151Ter) c.473C>G (p.Ser158Ter) c.572C>G (p.Ser191Ter) c.7472C>G (p.Ser2491Ter) c.241C>G (n.241C>G) c.7469C>G (p.Ser2490Ter) c.7481C>G (p.Ser2494Ter) c.7460C>G (p.Ser2487Ter) c.7115C>G (p.Ser2372Ter) c.3461C>G (p.Ser1154Ter) c.7355C>G (p.Ser2452Ter) c.7346C>G (p.Ser2449Ter) c.7361C>G (p.Ser2454Ter) c.1658C>G (p.Ser553Ter) | |
X | g.31774018G>T | CA412658833 | DMD | c.2330C>A (p.Ser777Ter) c.104C>A (p.Ser35Ter) n.1145C>A n.1067C>A n.976C>A c.7484C>A (p.Ser2495Ter) c.3452C>A (p.Ser1151Ter) c.473C>A (p.Ser158Ter) c.572C>A (p.Ser191Ter) c.7472C>A (p.Ser2491Ter) c.241C>A (n.241C>A) c.7469C>A (p.Ser2490Ter) c.7481C>A (p.Ser2494Ter) c.7460C>A (p.Ser2487Ter) c.7115C>A (p.Ser2372Ter) c.3461C>A (p.Ser1154Ter) c.7355C>A (p.Ser2452Ter) c.7346C>A (p.Ser2449Ter) c.7361C>A (p.Ser2454Ter) c.1658C>A (p.Ser553Ter) | |
X | g.31774019A>C | CA412658834 | DMD | c.2329T>G (p.Ser777Ala) c.103T>G (p.Ser35Ala) n.1144T>G n.1066T>G n.975T>G c.7483T>G (p.Ser2495Ala) c.3451T>G (p.Ser1151Ala) c.472T>G (p.Ser158Ala) c.571T>G (p.Ser191Ala) c.7471T>G (p.Ser2491Ala) c.240T>G (n.240T>G) c.7468T>G (p.Ser2490Ala) c.7480T>G (p.Ser2494Ala) c.7459T>G (p.Ser2487Ala) c.7114T>G (p.Ser2372Ala) c.3460T>G (p.Ser1154Ala) c.7354T>G (p.Ser2452Ala) c.7345T>G (p.Ser2449Ala) c.7360T>G (p.Ser2454Ala) c.1657T>G (p.Ser553Ala) | |
X | g.31774019A>G | CA412658835 | DMD | c.2329T>C (p.Ser777Pro) c.103T>C (p.Ser35Pro) n.1144T>C n.1066T>C n.975T>C c.7483T>C (p.Ser2495Pro) c.3451T>C (p.Ser1151Pro) c.472T>C (p.Ser158Pro) c.571T>C (p.Ser191Pro) c.7471T>C (p.Ser2491Pro) c.240T>C (n.240T>C) c.7468T>C (p.Ser2490Pro) c.7480T>C (p.Ser2494Pro) c.7459T>C (p.Ser2487Pro) c.7114T>C (p.Ser2372Pro) c.3460T>C (p.Ser1154Pro) c.7354T>C (p.Ser2452Pro) c.7345T>C (p.Ser2449Pro) c.7360T>C (p.Ser2454Pro) c.1657T>C (p.Ser553Pro) | gnomAD v4 |
X | g.31774019A>T | CA412658836 | DMD | c.2329T>A (p.Ser777Thr) c.103T>A (p.Ser35Thr) n.1144T>A n.1066T>A n.975T>A c.7483T>A (p.Ser2495Thr) c.3451T>A (p.Ser1151Thr) c.472T>A (p.Ser158Thr) c.571T>A (p.Ser191Thr) c.7471T>A (p.Ser2491Thr) c.240T>A (n.240T>A) c.7468T>A (p.Ser2490Thr) c.7480T>A (p.Ser2494Thr) c.7459T>A (p.Ser2487Thr) c.7114T>A (p.Ser2372Thr) c.3460T>A (p.Ser1154Thr) c.7354T>A (p.Ser2452Thr) c.7345T>A (p.Ser2449Thr) c.7360T>A (p.Ser2454Thr) c.1657T>A (p.Ser553Thr) | |
X | g.31774020T>A | CA412658838 | DMD | c.2328A>T (p.Lys776Asn) c.102A>T (p.Lys34Asn) n.1143A>T n.1065A>T n.974A>T c.7482A>T (p.Lys2494Asn) c.3450A>T (p.Lys1150Asn) c.471A>T (p.Lys157Asn) c.570A>T (p.Lys190Asn) c.7470A>T (p.Lys2490Asn) c.239A>T (n.239A>T) c.7467A>T (p.Lys2489Asn) c.7479A>T (p.Lys2493Asn) c.7458A>T (p.Lys2486Asn) c.7113A>T (p.Lys2371Asn) c.3459A>T (p.Lys1153Asn) c.7353A>T (p.Lys2451Asn) c.7344A>T (p.Lys2448Asn) c.7359A>T (p.Lys2453Asn) c.1656A>T (p.Lys552Asn) | |
X | g.31774020T>C | CA515859318 | DMD | c.2328A>G (p.Lys776=) c.102A>G (p.Lys34=) n.1143A>G n.1065A>G n.974A>G c.7482A>G (p.Lys2494=) c.3450A>G (p.Lys1150=) c.471A>G (p.Lys157=) c.570A>G (p.Lys190=) c.7470A>G (p.Lys2490=) c.239A>G (n.239A>G) c.7467A>G (p.Lys2489=) c.7479A>G (p.Lys2493=) c.7458A>G (p.Lys2486=) c.7113A>G (p.Lys2371=) c.3459A>G (p.Lys1153=) c.7353A>G (p.Lys2451=) c.7344A>G (p.Lys2448=) c.7359A>G (p.Lys2453=) c.1656A>G (p.Lys552=) | |
X | g.31774020T>G | CA412658837 | DMD | c.2328A>C (p.Lys776Asn) c.102A>C (p.Lys34Asn) n.1143A>C n.1065A>C n.974A>C c.7482A>C (p.Lys2494Asn) c.3450A>C (p.Lys1150Asn) c.471A>C (p.Lys157Asn) c.570A>C (p.Lys190Asn) c.7470A>C (p.Lys2490Asn) c.239A>C (n.239A>C) c.7467A>C (p.Lys2489Asn) c.7479A>C (p.Lys2493Asn) c.7458A>C (p.Lys2486Asn) c.7113A>C (p.Lys2371Asn) c.3459A>C (p.Lys1153Asn) c.7353A>C (p.Lys2451Asn) c.7344A>C (p.Lys2448Asn) c.7359A>C (p.Lys2453Asn) c.1656A>C (p.Lys552Asn) | |
X | g.31774021T>A | CA412658839 | DMD | c.2327A>T (p.Lys776Ile) c.101A>T (p.Lys34Ile) n.1142A>T n.1064A>T n.973A>T c.7481A>T (p.Lys2494Ile) c.3449A>T (p.Lys1150Ile) c.470A>T (p.Lys157Ile) c.569A>T (p.Lys190Ile) c.7469A>T (p.Lys2490Ile) c.238A>T (n.238A>T) c.7466A>T (p.Lys2489Ile) c.7478A>T (p.Lys2493Ile) c.7457A>T (p.Lys2486Ile) c.7112A>T (p.Lys2371Ile) c.3458A>T (p.Lys1153Ile) c.7352A>T (p.Lys2451Ile) c.7343A>T (p.Lys2448Ile) c.7358A>T (p.Lys2453Ile) c.1655A>T (p.Lys552Ile) | |
X | g.31774021T>C | CA412658840 | DMD | c.2327A>G (p.Lys776Arg) c.101A>G (p.Lys34Arg) n.1142A>G n.1064A>G n.973A>G c.7481A>G (p.Lys2494Arg) c.3449A>G (p.Lys1150Arg) c.470A>G (p.Lys157Arg) c.569A>G (p.Lys190Arg) c.7469A>G (p.Lys2490Arg) c.238A>G (n.238A>G) c.7466A>G (p.Lys2489Arg) c.7478A>G (p.Lys2493Arg) c.7457A>G (p.Lys2486Arg) c.7112A>G (p.Lys2371Arg) c.3458A>G (p.Lys1153Arg) c.7352A>G (p.Lys2451Arg) c.7343A>G (p.Lys2448Arg) c.7358A>G (p.Lys2453Arg) c.1655A>G (p.Lys552Arg) | |
X | g.31774021T>G | CA412658841 | DMD | c.2327A>C (p.Lys776Thr) c.101A>C (p.Lys34Thr) n.1142A>C n.1064A>C n.973A>C c.7481A>C (p.Lys2494Thr) c.3449A>C (p.Lys1150Thr) c.470A>C (p.Lys157Thr) c.569A>C (p.Lys190Thr) c.7469A>C (p.Lys2490Thr) c.238A>C (n.238A>C) c.7466A>C (p.Lys2489Thr) c.7478A>C (p.Lys2493Thr) c.7457A>C (p.Lys2486Thr) c.7112A>C (p.Lys2371Thr) c.3458A>C (p.Lys1153Thr) c.7352A>C (p.Lys2451Thr) c.7343A>C (p.Lys2448Thr) c.7358A>C (p.Lys2453Thr) c.1655A>C (p.Lys552Thr) | |
X | g.31774022T>A | CA412658842 | DMD | c.2326A>T (p.Lys776Ter) c.100A>T (p.Lys34Ter) n.1141A>T n.1063A>T n.972A>T c.7480A>T (p.Lys2494Ter) c.3448A>T (p.Lys1150Ter) c.469A>T (p.Lys157Ter) c.568A>T (p.Lys190Ter) c.7468A>T (p.Lys2490Ter) c.237A>T (n.237A>T) c.7465A>T (p.Lys2489Ter) c.7477A>T (p.Lys2493Ter) c.7456A>T (p.Lys2486Ter) c.7111A>T (p.Lys2371Ter) c.3457A>T (p.Lys1153Ter) c.7351A>T (p.Lys2451Ter) c.7342A>T (p.Lys2448Ter) c.7357A>T (p.Lys2453Ter) c.1654A>T (p.Lys552Ter) | |
X | g.31774022T>C | CA412658843 | DMD | c.2326A>G (p.Lys776Glu) c.100A>G (p.Lys34Glu) n.1141A>G n.1063A>G n.972A>G c.7480A>G (p.Lys2494Glu) c.3448A>G (p.Lys1150Glu) c.469A>G (p.Lys157Glu) c.568A>G (p.Lys190Glu) c.7468A>G (p.Lys2490Glu) c.237A>G (n.237A>G) c.7465A>G (p.Lys2489Glu) c.7477A>G (p.Lys2493Glu) c.7456A>G (p.Lys2486Glu) c.7111A>G (p.Lys2371Glu) c.3457A>G (p.Lys1153Glu) c.7351A>G (p.Lys2451Glu) c.7342A>G (p.Lys2448Glu) c.7357A>G (p.Lys2453Glu) c.1654A>G (p.Lys552Glu) | |
X | g.31774022T>G | CA412658844 | DMD | c.2326A>C (p.Lys776Gln) c.100A>C (p.Lys34Gln) n.1141A>C n.1063A>C n.972A>C c.7480A>C (p.Lys2494Gln) c.3448A>C (p.Lys1150Gln) c.469A>C (p.Lys157Gln) c.568A>C (p.Lys190Gln) c.7468A>C (p.Lys2490Gln) c.237A>C (n.237A>C) c.7465A>C (p.Lys2489Gln) c.7477A>C (p.Lys2493Gln) c.7456A>C (p.Lys2486Gln) c.7111A>C (p.Lys2371Gln) c.3457A>C (p.Lys1153Gln) c.7351A>C (p.Lys2451Gln) c.7342A>C (p.Lys2448Gln) c.7357A>C (p.Lys2453Gln) c.1654A>C (p.Lys552Gln) | |
X | g.31774023T>A | CA515859320 | DMD | c.2325A>T (p.Ile775=) c.99A>T (p.Ile33=) n.1140A>T n.1062A>T n.971A>T c.7479A>T (p.Ile2493=) c.3447A>T (p.Ile1149=) c.468A>T (p.Ile156=) c.567A>T (p.Ile189=) c.7467A>T (p.Ile2489=) c.236A>T (n.236A>T) c.7464A>T (p.Ile2488=) c.7476A>T (p.Ile2492=) c.7455A>T (p.Ile2485=) c.7110A>T (p.Ile2370=) c.3456A>T (p.Ile1152=) c.7350A>T (p.Ile2450=) c.7341A>T (p.Ile2447=) c.7356A>T (p.Ile2452=) c.1653A>T (p.Ile551=) | |
X | g.31774023T>C | CA412658845 | DMD | c.2325A>G (p.Ile775Met) c.99A>G (p.Ile33Met) n.1140A>G n.1062A>G n.971A>G c.7479A>G (p.Ile2493Met) c.3447A>G (p.Ile1149Met) c.468A>G (p.Ile156Met) c.567A>G (p.Ile189Met) c.7467A>G (p.Ile2489Met) c.236A>G (n.236A>G) c.7464A>G (p.Ile2488Met) c.7476A>G (p.Ile2492Met) c.7455A>G (p.Ile2485Met) c.7110A>G (p.Ile2370Met) c.3456A>G (p.Ile1152Met) c.7350A>G (p.Ile2450Met) c.7341A>G (p.Ile2447Met) c.7356A>G (p.Ile2452Met) c.1653A>G (p.Ile551Met) | |
X | g.31774023T>G | CA515859319 | DMD | c.2325A>C (p.Ile775=) c.99A>C (p.Ile33=) n.1140A>C n.1062A>C n.971A>C c.7479A>C (p.Ile2493=) c.3447A>C (p.Ile1149=) c.468A>C (p.Ile156=) c.567A>C (p.Ile189=) c.7467A>C (p.Ile2489=) c.236A>C (n.236A>C) c.7464A>C (p.Ile2488=) c.7476A>C (p.Ile2492=) c.7455A>C (p.Ile2485=) c.7110A>C (p.Ile2370=) c.3456A>C (p.Ile1152=) c.7350A>C (p.Ile2450=) c.7341A>C (p.Ile2447=) c.7356A>C (p.Ile2452=) c.1653A>C (p.Ile551=) | |
X | g.31774024A= | CA2422548627 | DMD | c.2324T= (p.Ile775=) c.98T= (p.Ile33=) n.1139T= n.1061T= n.970T= c.7478T= (p.Ile2493=) c.3446T= (p.Ile1149=) c.467T= (p.Ile156=) c.566T= (p.Ile189=) c.7466T= (p.Ile2489=) c.235T= (n.235T=) c.7463T= (p.Ile2488=) c.7475T= (p.Ile2492=) c.7454T= (p.Ile2485=) c.7109T= (p.Ile2370=) c.3455T= (p.Ile1152=) c.7349T= (p.Ile2450=) c.7340T= (p.Ile2447=) c.7355T= (p.Ile2452=) c.1652T= (p.Ile551=) | |
X | g.31774024A>C | CA412658846 | DMD | c.2324T>G (p.Ile775Arg) c.98T>G (p.Ile33Arg) n.1139T>G n.1061T>G n.970T>G c.7478T>G (p.Ile2493Arg) c.3446T>G (p.Ile1149Arg) c.467T>G (p.Ile156Arg) c.566T>G (p.Ile189Arg) c.7466T>G (p.Ile2489Arg) c.235T>G (n.235T>G) c.7463T>G (p.Ile2488Arg) c.7475T>G (p.Ile2492Arg) c.7454T>G (p.Ile2485Arg) c.7109T>G (p.Ile2370Arg) c.3455T>G (p.Ile1152Arg) c.7349T>G (p.Ile2450Arg) c.7340T>G (p.Ile2447Arg) c.7355T>G (p.Ile2452Arg) c.1652T>G (p.Ile551Arg) | |
X | g.31774024A>G | CA412658848 | DMD | c.2324T>C (p.Ile775Thr) c.98T>C (p.Ile33Thr) n.1139T>C n.1061T>C n.970T>C c.7478T>C (p.Ile2493Thr) c.3446T>C (p.Ile1149Thr) c.467T>C (p.Ile156Thr) c.566T>C (p.Ile189Thr) c.7466T>C (p.Ile2489Thr) c.235T>C (n.235T>C) c.7463T>C (p.Ile2488Thr) c.7475T>C (p.Ile2492Thr) c.7454T>C (p.Ile2485Thr) c.7109T>C (p.Ile2370Thr) c.3455T>C (p.Ile1152Thr) c.7349T>C (p.Ile2450Thr) c.7340T>C (p.Ile2447Thr) c.7355T>C (p.Ile2452Thr) c.1652T>C (p.Ile551Thr) | dbSNP |
X | g.31774024A>T | CA412658847 | DMD | c.2324T>A (p.Ile775Lys) c.98T>A (p.Ile33Lys) n.1139T>A n.1061T>A n.970T>A c.7478T>A (p.Ile2493Lys) c.3446T>A (p.Ile1149Lys) c.467T>A (p.Ile156Lys) c.566T>A (p.Ile189Lys) c.7466T>A (p.Ile2489Lys) c.235T>A (n.235T>A) c.7463T>A (p.Ile2488Lys) c.7475T>A (p.Ile2492Lys) c.7454T>A (p.Ile2485Lys) c.7109T>A (p.Ile2370Lys) c.3455T>A (p.Ile1152Lys) c.7349T>A (p.Ile2450Lys) c.7340T>A (p.Ile2447Lys) c.7355T>A (p.Ile2452Lys) c.1652T>A (p.Ile551Lys) | |
X | g.31774025T>A | CA412658849 | DMD | c.2323A>T (p.Ile775Leu) c.97A>T (p.Ile33Leu) n.1138A>T n.1060A>T n.969A>T c.7477A>T (p.Ile2493Leu) c.3445A>T (p.Ile1149Leu) c.466A>T (p.Ile156Leu) c.565A>T (p.Ile189Leu) c.7465A>T (p.Ile2489Leu) c.234A>T (n.234A>T) c.7462A>T (p.Ile2488Leu) c.7474A>T (p.Ile2492Leu) c.7453A>T (p.Ile2485Leu) c.7108A>T (p.Ile2370Leu) c.3454A>T (p.Ile1152Leu) c.7348A>T (p.Ile2450Leu) c.7339A>T (p.Ile2447Leu) c.7354A>T (p.Ile2452Leu) c.1651A>T (p.Ile551Leu) | |
X | g.31774025T>C | CA412658850 | DMD | c.2323A>G (p.Ile775Val) c.97A>G (p.Ile33Val) n.1138A>G n.1060A>G n.969A>G c.7477A>G (p.Ile2493Val) c.3445A>G (p.Ile1149Val) c.466A>G (p.Ile156Val) c.565A>G (p.Ile189Val) c.7465A>G (p.Ile2489Val) c.234A>G (n.234A>G) c.7462A>G (p.Ile2488Val) c.7474A>G (p.Ile2492Val) c.7453A>G (p.Ile2485Val) c.7108A>G (p.Ile2370Val) c.3454A>G (p.Ile1152Val) c.7348A>G (p.Ile2450Val) c.7339A>G (p.Ile2447Val) c.7354A>G (p.Ile2452Val) c.1651A>G (p.Ile551Val) | |
X | g.31774025T>G | CA412658851 | DMD | c.2323A>C (p.Ile775Leu) c.97A>C (p.Ile33Leu) n.1138A>C n.1060A>C n.969A>C c.7477A>C (p.Ile2493Leu) c.3445A>C (p.Ile1149Leu) c.466A>C (p.Ile156Leu) c.565A>C (p.Ile189Leu) c.7465A>C (p.Ile2489Leu) c.234A>C (n.234A>C) c.7462A>C (p.Ile2488Leu) c.7474A>C (p.Ile2492Leu) c.7453A>C (p.Ile2485Leu) c.7108A>C (p.Ile2370Leu) c.3454A>C (p.Ile1152Leu) c.7348A>C (p.Ile2450Leu) c.7339A>C (p.Ile2447Leu) c.7354A>C (p.Ile2452Leu) c.1651A>C (p.Ile551Leu) | |
X | g.31774026_31774029dup | CA2580616928 | DMD | c.2320_2323dup (p.Ile775SerfsTer11) c.94_97dup (p.Ile33SerfsTer11) n.1135_1138dup n.1057_1060dup n.966_969dup c.7474_7477dup (p.Ile2493SerfsTer11) c.3442_3445dup (p.Ile1149SerfsTer11) c.463_466dup (p.Ile156SerfsTer11) c.562_565dup (p.Ile189SerfsTer11) c.7462_7465dup (p.Ile2489SerfsTer11) c.231_234dup (n.231_234dup) c.7459_7462dup (p.Ile2488SerfsTer11) c.7471_7474dup (p.Ile2492SerfsTer11) c.7450_7453dup (p.Ile2485SerfsTer11) c.7105_7108dup (p.Ile2370SerfsTer11) c.3451_3454dup (p.Ile1152SerfsTer11) c.7345_7348dup (p.Ile2450SerfsTer11) c.7336_7339dup (p.Ile2447SerfsTer11) c.7351_7354dup (p.Ile2452SerfsTer11) c.1648_1651dup (p.Ile551SerfsTer11) | ClinVar |
X | g.31774026A= | CA2422548628 | DMD | c.2322T= (p.Val774=) c.96T= (p.Val32=) n.1137T= n.1059T= n.968T= c.7476T= (p.Val2492=) c.3444T= (p.Val1148=) c.465T= (p.Val155=) c.564T= (p.Val188=) c.7464T= (p.Val2488=) c.233T= (n.233T=) c.7461T= (p.Val2487=) c.7473T= (p.Val2491=) c.7452T= (p.Val2484=) c.7107T= (p.Val2369=) c.3453T= (p.Val1151=) c.7347T= (p.Val2449=) c.7338T= (p.Val2446=) c.7353T= (p.Val2451=) c.1650T= (p.Val550=) | |
X | g.31774026A>C | CA515859322 | DMD | c.2322T>G (p.Val774=) c.96T>G (p.Val32=) n.1137T>G n.1059T>G n.968T>G c.7476T>G (p.Val2492=) c.3444T>G (p.Val1148=) c.465T>G (p.Val155=) c.564T>G (p.Val188=) c.7464T>G (p.Val2488=) c.233T>G (n.233T>G) c.7461T>G (p.Val2487=) c.7473T>G (p.Val2491=) c.7452T>G (p.Val2484=) c.7107T>G (p.Val2369=) c.3453T>G (p.Val1151=) c.7347T>G (p.Val2449=) c.7338T>G (p.Val2446=) c.7353T>G (p.Val2451=) c.1650T>G (p.Val550=) | |
X | g.31774026A>G | CA285601 | DMD | c.2322T>C (p.Val774=) c.96T>C (p.Val32=) n.1137T>C n.1059T>C n.968T>C c.7476T>C (p.Val2492=) c.3444T>C (p.Val1148=) c.465T>C (p.Val155=) c.564T>C (p.Val188=) c.7464T>C (p.Val2488=) c.233T>C (n.233T>C) c.7461T>C (p.Val2487=) c.7473T>C (p.Val2491=) c.7452T>C (p.Val2484=) c.7107T>C (p.Val2369=) c.3453T>C (p.Val1151=) c.7347T>C (p.Val2449=) c.7338T>C (p.Val2446=) c.7353T>C (p.Val2451=) c.1650T>C (p.Val550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774026A>T | CA515859321 | DMD | c.2322T>A (p.Val774=) c.96T>A (p.Val32=) n.1137T>A n.1059T>A n.968T>A c.7476T>A (p.Val2492=) c.3444T>A (p.Val1148=) c.465T>A (p.Val155=) c.564T>A (p.Val188=) c.7464T>A (p.Val2488=) c.233T>A (n.233T>A) c.7461T>A (p.Val2487=) c.7473T>A (p.Val2491=) c.7452T>A (p.Val2484=) c.7107T>A (p.Val2369=) c.3453T>A (p.Val1151=) c.7347T>A (p.Val2449=) c.7338T>A (p.Val2446=) c.7353T>A (p.Val2451=) c.1650T>A (p.Val550=) | |
X | g.31774027del | CA2695232437 | DMD | c.2322del (p.Ile775Ter) c.96del (p.Ile33Ter) n.1137del n.1059del n.968del c.7476del (p.Ile2493Ter) c.3444del (p.Ile1149Ter) c.465del (p.Ile156Ter) c.564del (p.Ile189Ter) c.7464del (p.Ile2489Ter) c.233del (n.233del) c.7461del (p.Ile2488Ter) c.7473del (p.Ile2492Ter) c.7452del (p.Ile2485Ter) c.7107del (p.Ile2370Ter) c.3453del (p.Ile1152Ter) c.7347del (p.Ile2450Ter) c.7338del (p.Ile2447Ter) c.7353del (p.Ile2452Ter) c.1650del (p.Ile551Ter) | |
X | g.31774027A>C | CA412658852 | DMD | c.2321T>G (p.Val774Gly) c.95T>G (p.Val32Gly) n.1136T>G n.1058T>G n.967T>G c.7475T>G (p.Val2492Gly) c.3443T>G (p.Val1148Gly) c.464T>G (p.Val155Gly) c.563T>G (p.Val188Gly) c.7463T>G (p.Val2488Gly) c.232T>G (n.232T>G) c.7460T>G (p.Val2487Gly) c.7472T>G (p.Val2491Gly) c.7451T>G (p.Val2484Gly) c.7106T>G (p.Val2369Gly) c.3452T>G (p.Val1151Gly) c.7346T>G (p.Val2449Gly) c.7337T>G (p.Val2446Gly) c.7352T>G (p.Val2451Gly) c.1649T>G (p.Val550Gly) | |
X | g.31774027A>G | CA412658854 | DMD | c.2321T>C (p.Val774Ala) c.95T>C (p.Val32Ala) n.1136T>C n.1058T>C n.967T>C c.7475T>C (p.Val2492Ala) c.3443T>C (p.Val1148Ala) c.464T>C (p.Val155Ala) c.563T>C (p.Val188Ala) c.7463T>C (p.Val2488Ala) c.232T>C (n.232T>C) c.7460T>C (p.Val2487Ala) c.7472T>C (p.Val2491Ala) c.7451T>C (p.Val2484Ala) c.7106T>C (p.Val2369Ala) c.3452T>C (p.Val1151Ala) c.7346T>C (p.Val2449Ala) c.7337T>C (p.Val2446Ala) c.7352T>C (p.Val2451Ala) c.1649T>C (p.Val550Ala) | |
X | g.31774027A>T | CA412658853 | DMD | c.2321T>A (p.Val774Asp) c.95T>A (p.Val32Asp) n.1136T>A n.1058T>A n.967T>A c.7475T>A (p.Val2492Asp) c.3443T>A (p.Val1148Asp) c.464T>A (p.Val155Asp) c.563T>A (p.Val188Asp) c.7463T>A (p.Val2488Asp) c.232T>A (n.232T>A) c.7460T>A (p.Val2487Asp) c.7472T>A (p.Val2491Asp) c.7451T>A (p.Val2484Asp) c.7106T>A (p.Val2369Asp) c.3452T>A (p.Val1151Asp) c.7346T>A (p.Val2449Asp) c.7337T>A (p.Val2446Asp) c.7352T>A (p.Val2451Asp) c.1649T>A (p.Val550Asp) | |
X | g.31774028C>A | CA412658855 | DMD | c.2320G>T (p.Val774Phe) c.94G>T (p.Val32Phe) n.1135G>T n.1057G>T n.966G>T c.7474G>T (p.Val2492Phe) c.3442G>T (p.Val1148Phe) c.463G>T (p.Val155Phe) c.562G>T (p.Val188Phe) c.7462G>T (p.Val2488Phe) c.231G>T (n.231G>T) c.7459G>T (p.Val2487Phe) c.7471G>T (p.Val2491Phe) c.7450G>T (p.Val2484Phe) c.7105G>T (p.Val2369Phe) c.3451G>T (p.Val1151Phe) c.7345G>T (p.Val2449Phe) c.7336G>T (p.Val2446Phe) c.7351G>T (p.Val2451Phe) c.1648G>T (p.Val550Phe) | |
X | g.31774028C>G | CA412658856 | DMD | c.2320G>C (p.Val774Leu) c.94G>C (p.Val32Leu) n.1135G>C n.1057G>C n.966G>C c.7474G>C (p.Val2492Leu) c.3442G>C (p.Val1148Leu) c.463G>C (p.Val155Leu) c.562G>C (p.Val188Leu) c.7462G>C (p.Val2488Leu) c.231G>C (n.231G>C) c.7459G>C (p.Val2487Leu) c.7471G>C (p.Val2491Leu) c.7450G>C (p.Val2484Leu) c.7105G>C (p.Val2369Leu) c.3451G>C (p.Val1151Leu) c.7345G>C (p.Val2449Leu) c.7336G>C (p.Val2446Leu) c.7351G>C (p.Val2451Leu) c.1648G>C (p.Val550Leu) | |
X | g.31774028C>T | CA412658857 | DMD | c.2320G>A (p.Val774Ile) c.94G>A (p.Val32Ile) n.1135G>A n.1057G>A n.966G>A c.7474G>A (p.Val2492Ile) c.3442G>A (p.Val1148Ile) c.463G>A (p.Val155Ile) c.562G>A (p.Val188Ile) c.7462G>A (p.Val2488Ile) c.231G>A (n.231G>A) c.7459G>A (p.Val2487Ile) c.7471G>A (p.Val2491Ile) c.7450G>A (p.Val2484Ile) c.7105G>A (p.Val2369Ile) c.3451G>A (p.Val1151Ile) c.7345G>A (p.Val2449Ile) c.7336G>A (p.Val2446Ile) c.7351G>A (p.Val2451Ile) c.1648G>A (p.Val550Ile) | |
X | g.31774029T>A | CA412658858 | DMD | c.2319A>T (p.Gln773His) c.93A>T (p.Gln31His) n.1134A>T n.1056A>T n.965A>T c.7473A>T (p.Gln2491His) c.3441A>T (p.Gln1147His) c.462A>T (p.Gln154His) c.561A>T (p.Gln187His) c.7461A>T (p.Gln2487His) c.230A>T (n.230A>T) c.7458A>T (p.Gln2486His) c.7470A>T (p.Gln2490His) c.7449A>T (p.Gln2483His) c.7104A>T (p.Gln2368His) c.3450A>T (p.Gln1150His) c.7344A>T (p.Gln2448His) c.7335A>T (p.Gln2445His) c.7350A>T (p.Gln2450His) c.1647A>T (p.Gln549His) | |
X | g.31774029T>C | CA515859323 | DMD | c.2319A>G (p.Gln773=) c.93A>G (p.Gln31=) n.1134A>G n.1056A>G n.965A>G c.7473A>G (p.Gln2491=) c.3441A>G (p.Gln1147=) c.462A>G (p.Gln154=) c.561A>G (p.Gln187=) c.7461A>G (p.Gln2487=) c.230A>G (n.230A>G) c.7458A>G (p.Gln2486=) c.7470A>G (p.Gln2490=) c.7449A>G (p.Gln2483=) c.7104A>G (p.Gln2368=) c.3450A>G (p.Gln1150=) c.7344A>G (p.Gln2448=) c.7335A>G (p.Gln2445=) c.7350A>G (p.Gln2450=) c.1647A>G (p.Gln549=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774029T>G | CA412658859 | DMD | c.2319A>C (p.Gln773His) c.93A>C (p.Gln31His) n.1134A>C n.1056A>C n.965A>C c.7473A>C (p.Gln2491His) c.3441A>C (p.Gln1147His) c.462A>C (p.Gln154His) c.561A>C (p.Gln187His) c.7461A>C (p.Gln2487His) c.230A>C (n.230A>C) c.7458A>C (p.Gln2486His) c.7470A>C (p.Gln2490His) c.7449A>C (p.Gln2483His) c.7104A>C (p.Gln2368His) c.3450A>C (p.Gln1150His) c.7344A>C (p.Gln2448His) c.7335A>C (p.Gln2445His) c.7350A>C (p.Gln2450His) c.1647A>C (p.Gln549His) | |
X | g.31774029T= | CA2422548629 | DMD | c.2319A= (p.Gln773=) c.93A= (p.Gln31=) n.1134A= n.1056A= n.965A= c.7473A= (p.Gln2491=) c.3441A= (p.Gln1147=) c.462A= (p.Gln154=) c.561A= (p.Gln187=) c.7461A= (p.Gln2487=) c.230A= (n.230A=) c.7458A= (p.Gln2486=) c.7470A= (p.Gln2490=) c.7449A= (p.Gln2483=) c.7104A= (p.Gln2368=) c.3450A= (p.Gln1150=) c.7344A= (p.Gln2448=) c.7335A= (p.Gln2445=) c.7350A= (p.Gln2450=) c.1647A= (p.Gln549=) | |
X | g.31774030T>A | CA412658860 | DMD | c.2318A>T (p.Gln773Leu) c.92A>T (p.Gln31Leu) n.1133A>T n.1055A>T n.964A>T c.7472A>T (p.Gln2491Leu) c.3440A>T (p.Gln1147Leu) c.461A>T (p.Gln154Leu) c.560A>T (p.Gln187Leu) c.7460A>T (p.Gln2487Leu) c.229A>T (n.229A>T) c.7457A>T (p.Gln2486Leu) c.7469A>T (p.Gln2490Leu) c.7448A>T (p.Gln2483Leu) c.7103A>T (p.Gln2368Leu) c.3449A>T (p.Gln1150Leu) c.7343A>T (p.Gln2448Leu) c.7334A>T (p.Gln2445Leu) c.7349A>T (p.Gln2450Leu) c.1646A>T (p.Gln549Leu) | |
X | g.31774030T>C | CA308331 | DMD | c.2318A>G (p.Gln773Arg) c.92A>G (p.Gln31Arg) n.1133A>G n.1055A>G n.964A>G c.7472A>G (p.Gln2491Arg) c.3440A>G (p.Gln1147Arg) c.461A>G (p.Gln154Arg) c.560A>G (p.Gln187Arg) c.7460A>G (p.Gln2487Arg) c.229A>G (n.229A>G) c.7457A>G (p.Gln2486Arg) c.7469A>G (p.Gln2490Arg) c.7448A>G (p.Gln2483Arg) c.7103A>G (p.Gln2368Arg) c.3449A>G (p.Gln1150Arg) c.7343A>G (p.Gln2448Arg) c.7334A>G (p.Gln2445Arg) c.7349A>G (p.Gln2450Arg) c.1646A>G (p.Gln549Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774030T>G | CA412658861 | DMD | c.2318A>C (p.Gln773Pro) c.92A>C (p.Gln31Pro) n.1133A>C n.1055A>C n.964A>C c.7472A>C (p.Gln2491Pro) c.3440A>C (p.Gln1147Pro) c.461A>C (p.Gln154Pro) c.560A>C (p.Gln187Pro) c.7460A>C (p.Gln2487Pro) c.229A>C (n.229A>C) c.7457A>C (p.Gln2486Pro) c.7469A>C (p.Gln2490Pro) c.7448A>C (p.Gln2483Pro) c.7103A>C (p.Gln2368Pro) c.3449A>C (p.Gln1150Pro) c.7343A>C (p.Gln2448Pro) c.7334A>C (p.Gln2445Pro) c.7349A>C (p.Gln2450Pro) c.1646A>C (p.Gln549Pro) | |
X | g.31774030T= | CA2422548630 | DMD | c.2318A= (p.Gln773=) c.92A= (p.Gln31=) n.1133A= n.1055A= n.964A= c.7472A= (p.Gln2491=) c.3440A= (p.Gln1147=) c.461A= (p.Gln154=) c.560A= (p.Gln187=) c.7460A= (p.Gln2487=) c.229A= (n.229A=) c.7457A= (p.Gln2486=) c.7469A= (p.Gln2490=) c.7448A= (p.Gln2483=) c.7103A= (p.Gln2368=) c.3449A= (p.Gln1150=) c.7343A= (p.Gln2448=) c.7334A= (p.Gln2445=) c.7349A= (p.Gln2450=) c.1646A= (p.Gln549=) | |
X | g.31774031del | CA2697552931 | DMD | c.2317del (p.Gln773LysfsTer3) c.91del (p.Gln31LysfsTer3) n.1132del n.1054del n.963del c.7471del (p.Gln2491LysfsTer3) c.3439del (p.Gln1147LysfsTer3) c.460del (p.Gln154LysfsTer3) c.559del (p.Gln187LysfsTer3) c.7459del (p.Gln2487LysfsTer3) c.228del (n.228del) c.7456del (p.Gln2486LysfsTer3) c.7468del (p.Gln2490LysfsTer3) c.7447del (p.Gln2483LysfsTer3) c.7102del (p.Gln2368LysfsTer3) c.3448del (p.Gln1150LysfsTer3) c.7342del (p.Gln2448LysfsTer3) c.7333del (p.Gln2445LysfsTer3) c.7348del (p.Gln2450LysfsTer3) c.1645del (p.Gln549LysfsTer3) | ClinVar |
X | g.31774031G>A | CA412658862 | DMD | c.2317C>T (p.Gln773Ter) c.91C>T (p.Gln31Ter) n.1132C>T n.1054C>T n.963C>T c.7471C>T (p.Gln2491Ter) c.3439C>T (p.Gln1147Ter) c.460C>T (p.Gln154Ter) c.559C>T (p.Gln187Ter) c.7459C>T (p.Gln2487Ter) c.228C>T (n.228C>T) c.7456C>T (p.Gln2486Ter) c.7468C>T (p.Gln2490Ter) c.7447C>T (p.Gln2483Ter) c.7102C>T (p.Gln2368Ter) c.3448C>T (p.Gln1150Ter) c.7342C>T (p.Gln2448Ter) c.7333C>T (p.Gln2445Ter) c.7348C>T (p.Gln2450Ter) c.1645C>T (p.Gln549Ter) | ClinVar dbSNP |
X | g.31774031G>C | CA412658863 | DMD | c.2317C>G (p.Gln773Glu) c.91C>G (p.Gln31Glu) n.1132C>G n.1054C>G n.963C>G c.7471C>G (p.Gln2491Glu) c.3439C>G (p.Gln1147Glu) c.460C>G (p.Gln154Glu) c.559C>G (p.Gln187Glu) c.7459C>G (p.Gln2487Glu) c.228C>G (n.228C>G) c.7456C>G (p.Gln2486Glu) c.7468C>G (p.Gln2490Glu) c.7447C>G (p.Gln2483Glu) c.7102C>G (p.Gln2368Glu) c.3448C>G (p.Gln1150Glu) c.7342C>G (p.Gln2448Glu) c.7333C>G (p.Gln2445Glu) c.7348C>G (p.Gln2450Glu) c.1645C>G (p.Gln549Glu) | |
X | g.31774031G>T | CA412658864 | DMD | c.2317C>A (p.Gln773Lys) c.91C>A (p.Gln31Lys) n.1132C>A n.1054C>A n.963C>A c.7471C>A (p.Gln2491Lys) c.3439C>A (p.Gln1147Lys) c.460C>A (p.Gln154Lys) c.559C>A (p.Gln187Lys) c.7459C>A (p.Gln2487Lys) c.228C>A (n.228C>A) c.7456C>A (p.Gln2486Lys) c.7468C>A (p.Gln2490Lys) c.7447C>A (p.Gln2483Lys) c.7102C>A (p.Gln2368Lys) c.3448C>A (p.Gln1150Lys) c.7342C>A (p.Gln2448Lys) c.7333C>A (p.Gln2445Lys) c.7348C>A (p.Gln2450Lys) c.1645C>A (p.Gln549Lys) | |
X | g.31774032A>C | CA412658865 | DMD | c.2316T>G (p.Asp772Glu) c.90T>G (p.Asp30Glu) n.1131T>G n.1053T>G n.962T>G c.7470T>G (p.Asp2490Glu) c.3438T>G (p.Asp1146Glu) c.459T>G (p.Asp153Glu) c.558T>G (p.Asp186Glu) c.7458T>G (p.Asp2486Glu) c.227T>G (n.227T>G) c.7455T>G (p.Asp2485Glu) c.7467T>G (p.Asp2489Glu) c.7446T>G (p.Asp2482Glu) c.7101T>G (p.Asp2367Glu) c.3447T>G (p.Asp1149Glu) c.7341T>G (p.Asp2447Glu) c.7332T>G (p.Asp2444Glu) c.7347T>G (p.Asp2449Glu) c.1644T>G (p.Asp548Glu) | |
X | g.31774032A>G | CA515859324 | DMD | c.2316T>C (p.Asp772=) c.90T>C (p.Asp30=) n.1131T>C n.1053T>C n.962T>C c.7470T>C (p.Asp2490=) c.3438T>C (p.Asp1146=) c.459T>C (p.Asp153=) c.558T>C (p.Asp186=) c.7458T>C (p.Asp2486=) c.227T>C (n.227T>C) c.7455T>C (p.Asp2485=) c.7467T>C (p.Asp2489=) c.7446T>C (p.Asp2482=) c.7101T>C (p.Asp2367=) c.3447T>C (p.Asp1149=) c.7341T>C (p.Asp2447=) c.7332T>C (p.Asp2444=) c.7347T>C (p.Asp2449=) c.1644T>C (p.Asp548=) | |
X | g.31774032A>T | CA412658866 | DMD | c.2316T>A (p.Asp772Glu) c.90T>A (p.Asp30Glu) n.1131T>A n.1053T>A n.962T>A c.7470T>A (p.Asp2490Glu) c.3438T>A (p.Asp1146Glu) c.459T>A (p.Asp153Glu) c.558T>A (p.Asp186Glu) c.7458T>A (p.Asp2486Glu) c.227T>A (n.227T>A) c.7455T>A (p.Asp2485Glu) c.7467T>A (p.Asp2489Glu) c.7446T>A (p.Asp2482Glu) c.7101T>A (p.Asp2367Glu) c.3447T>A (p.Asp1149Glu) c.7341T>A (p.Asp2447Glu) c.7332T>A (p.Asp2444Glu) c.7347T>A (p.Asp2449Glu) c.1644T>A (p.Asp548Glu) | |
X | g.31774032delinsTT | CA2695232439 | DMD | c.2316delinsAA (p.Asp772GlufsTer13) c.90delinsAA (p.Asp30GlufsTer13) n.1131delinsAA n.1053delinsAA n.962delinsAA c.7470delinsAA (p.Asp2490GlufsTer13) c.3438delinsAA (p.Asp1146GlufsTer13) c.459delinsAA (p.Asp153GlufsTer13) c.558delinsAA (p.Asp186GlufsTer13) c.7458delinsAA (p.Asp2486GlufsTer13) c.227delinsAA (n.227delinsAA) c.7455delinsAA (p.Asp2485GlufsTer13) c.7467delinsAA (p.Asp2489GlufsTer13) c.7446delinsAA (p.Asp2482GlufsTer13) c.7101delinsAA (p.Asp2367GlufsTer13) c.3447delinsAA (p.Asp1149GlufsTer13) c.7341delinsAA (p.Asp2447GlufsTer13) c.7332delinsAA (p.Asp2444GlufsTer13) c.7347delinsAA (p.Asp2449GlufsTer13) c.1644delinsAA (p.Asp548GlufsTer13) | |
X | g.31774033T>A | CA328470491 | DMD | c.2315A>T (p.Asp772Val) c.89A>T (p.Asp30Val) n.1130A>T n.1052A>T n.961A>T c.7469A>T (p.Asp2490Val) c.3437A>T (p.Asp1146Val) c.458A>T (p.Asp153Val) c.557A>T (p.Asp186Val) c.7457A>T (p.Asp2486Val) c.226A>T (n.226A>T) c.7454A>T (p.Asp2485Val) c.7466A>T (p.Asp2489Val) c.7445A>T (p.Asp2482Val) c.7100A>T (p.Asp2367Val) c.3446A>T (p.Asp1149Val) c.7340A>T (p.Asp2447Val) c.7331A>T (p.Asp2444Val) c.7346A>T (p.Asp2449Val) c.1643A>T (p.Asp548Val) | dbSNP |
X | g.31774033T>C | CA412658867 | DMD | c.2315A>G (p.Asp772Gly) c.89A>G (p.Asp30Gly) n.1130A>G n.1052A>G n.961A>G c.7469A>G (p.Asp2490Gly) c.3437A>G (p.Asp1146Gly) c.458A>G (p.Asp153Gly) c.557A>G (p.Asp186Gly) c.7457A>G (p.Asp2486Gly) c.226A>G (n.226A>G) c.7454A>G (p.Asp2485Gly) c.7466A>G (p.Asp2489Gly) c.7445A>G (p.Asp2482Gly) c.7100A>G (p.Asp2367Gly) c.3446A>G (p.Asp1149Gly) c.7340A>G (p.Asp2447Gly) c.7331A>G (p.Asp2444Gly) c.7346A>G (p.Asp2449Gly) c.1643A>G (p.Asp548Gly) | dbSNP |
X | g.31774033T>G | CA412658868 | DMD | c.2315A>C (p.Asp772Ala) c.89A>C (p.Asp30Ala) n.1130A>C n.1052A>C n.961A>C c.7469A>C (p.Asp2490Ala) c.3437A>C (p.Asp1146Ala) c.458A>C (p.Asp153Ala) c.557A>C (p.Asp186Ala) c.7457A>C (p.Asp2486Ala) c.226A>C (n.226A>C) c.7454A>C (p.Asp2485Ala) c.7466A>C (p.Asp2489Ala) c.7445A>C (p.Asp2482Ala) c.7100A>C (p.Asp2367Ala) c.3446A>C (p.Asp1149Ala) c.7340A>C (p.Asp2447Ala) c.7331A>C (p.Asp2444Ala) c.7346A>C (p.Asp2449Ala) c.1643A>C (p.Asp548Ala) | |
X | g.31774033T= | CA2422548631 | DMD | c.2315A= (p.Asp772=) c.89A= (p.Asp30=) n.1130A= n.1052A= n.961A= c.7469A= (p.Asp2490=) c.3437A= (p.Asp1146=) c.458A= (p.Asp153=) c.557A= (p.Asp186=) c.7457A= (p.Asp2486=) c.226A= (n.226A=) c.7454A= (p.Asp2485=) c.7466A= (p.Asp2489=) c.7445A= (p.Asp2482=) c.7100A= (p.Asp2367=) c.3446A= (p.Asp1149=) c.7340A= (p.Asp2447=) c.7331A= (p.Asp2444=) c.7346A= (p.Asp2449=) c.1643A= (p.Asp548=) | |
X | g.31774034C>A | CA10378271 | DMD | c.2314G>T (p.Asp772Tyr) c.88G>T (p.Asp30Tyr) n.1129G>T n.1051G>T n.960G>T c.7468G>T (p.Asp2490Tyr) c.3436G>T (p.Asp1146Tyr) c.457G>T (p.Asp153Tyr) c.556G>T (p.Asp186Tyr) c.7456G>T (p.Asp2486Tyr) c.225G>T (n.225G>T) c.7453G>T (p.Asp2485Tyr) c.7465G>T (p.Asp2489Tyr) c.7444G>T (p.Asp2482Tyr) c.7099G>T (p.Asp2367Tyr) c.3445G>T (p.Asp1149Tyr) c.7339G>T (p.Asp2447Tyr) c.7330G>T (p.Asp2444Tyr) c.7345G>T (p.Asp2449Tyr) c.1642G>T (p.Asp548Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774034C= | CA2422548632 | DMD | c.2314G= (p.Asp772=) c.88G= (p.Asp30=) n.1129G= n.1051G= n.960G= c.7468G= (p.Asp2490=) c.3436G= (p.Asp1146=) c.457G= (p.Asp153=) c.556G= (p.Asp186=) c.7456G= (p.Asp2486=) c.225G= (n.225G=) c.7453G= (p.Asp2485=) c.7465G= (p.Asp2489=) c.7444G= (p.Asp2482=) c.7099G= (p.Asp2367=) c.3445G= (p.Asp1149=) c.7339G= (p.Asp2447=) c.7330G= (p.Asp2444=) c.7345G= (p.Asp2449=) c.1642G= (p.Asp548=) | |
X | g.31774034C>G | CA412658869 | DMD | c.2314G>C (p.Asp772His) c.88G>C (p.Asp30His) n.1129G>C n.1051G>C n.960G>C c.7468G>C (p.Asp2490His) c.3436G>C (p.Asp1146His) c.457G>C (p.Asp153His) c.556G>C (p.Asp186His) c.7456G>C (p.Asp2486His) c.225G>C (n.225G>C) c.7453G>C (p.Asp2485His) c.7465G>C (p.Asp2489His) c.7444G>C (p.Asp2482His) c.7099G>C (p.Asp2367His) c.3445G>C (p.Asp1149His) c.7339G>C (p.Asp2447His) c.7330G>C (p.Asp2444His) c.7345G>C (p.Asp2449His) c.1642G>C (p.Asp548His) | |
X | g.31774034C>T | CA412658870 | DMD | c.2314G>A (p.Asp772Asn) c.88G>A (p.Asp30Asn) n.1129G>A n.1051G>A n.960G>A c.7468G>A (p.Asp2490Asn) c.3436G>A (p.Asp1146Asn) c.457G>A (p.Asp153Asn) c.556G>A (p.Asp186Asn) c.7456G>A (p.Asp2486Asn) c.225G>A (n.225G>A) c.7453G>A (p.Asp2485Asn) c.7465G>A (p.Asp2489Asn) c.7444G>A (p.Asp2482Asn) c.7099G>A (p.Asp2367Asn) c.3445G>A (p.Asp1149Asn) c.7339G>A (p.Asp2447Asn) c.7330G>A (p.Asp2444Asn) c.7345G>A (p.Asp2449Asn) c.1642G>A (p.Asp548Asn) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774035A>C | CA515859325 | DMD | c.2313T>G (p.Leu771=) c.87T>G (p.Leu29=) n.1128T>G n.1050T>G n.959T>G c.7467T>G (p.Leu2489=) c.3435T>G (p.Leu1145=) c.456T>G (p.Leu152=) c.555T>G (p.Leu185=) c.7455T>G (p.Leu2485=) c.224T>G (n.224T>G) c.7452T>G (p.Leu2484=) c.7464T>G (p.Leu2488=) c.7443T>G (p.Leu2481=) c.7098T>G (p.Leu2366=) c.3444T>G (p.Leu1148=) c.7338T>G (p.Leu2446=) c.7329T>G (p.Leu2443=) c.7344T>G (p.Leu2448=) c.1641T>G (p.Leu547=) | ClinVar |
X | g.31774035A>G | CA515859326 | DMD | c.2313T>C (p.Leu771=) c.87T>C (p.Leu29=) n.1128T>C n.1050T>C n.959T>C c.7467T>C (p.Leu2489=) c.3435T>C (p.Leu1145=) c.456T>C (p.Leu152=) c.555T>C (p.Leu185=) c.7455T>C (p.Leu2485=) c.224T>C (n.224T>C) c.7452T>C (p.Leu2484=) c.7464T>C (p.Leu2488=) c.7443T>C (p.Leu2481=) c.7098T>C (p.Leu2366=) c.3444T>C (p.Leu1148=) c.7338T>C (p.Leu2446=) c.7329T>C (p.Leu2443=) c.7344T>C (p.Leu2448=) c.1641T>C (p.Leu547=) | |
X | g.31774035A>T | CA515859327 | DMD | c.2313T>A (p.Leu771=) c.87T>A (p.Leu29=) n.1128T>A n.1050T>A n.959T>A c.7467T>A (p.Leu2489=) c.3435T>A (p.Leu1145=) c.456T>A (p.Leu152=) c.555T>A (p.Leu185=) c.7455T>A (p.Leu2485=) c.224T>A (n.224T>A) c.7452T>A (p.Leu2484=) c.7464T>A (p.Leu2488=) c.7443T>A (p.Leu2481=) c.7098T>A (p.Leu2366=) c.3444T>A (p.Leu1148=) c.7338T>A (p.Leu2446=) c.7329T>A (p.Leu2443=) c.7344T>A (p.Leu2448=) c.1641T>A (p.Leu547=) | |
X | g.31774036del | CA2695232441 | DMD | c.2313del (p.Asp772IlefsTer4) c.87del (p.Asp30IlefsTer4) n.1128del n.1050del n.959del c.7467del (p.Asp2490IlefsTer4) c.3435del (p.Asp1146IlefsTer4) c.456del (p.Asp153IlefsTer4) c.555del (p.Asp186IlefsTer4) c.7455del (p.Asp2486IlefsTer4) c.224del (n.224del) c.7452del (p.Asp2485IlefsTer4) c.7464del (p.Asp2489IlefsTer4) c.7443del (p.Asp2482IlefsTer4) c.7098del (p.Asp2367IlefsTer4) c.3444del (p.Asp1149IlefsTer4) c.7338del (p.Asp2447IlefsTer4) c.7329del (p.Asp2444IlefsTer4) c.7344del (p.Asp2449IlefsTer4) c.1641del (p.Asp548IlefsTer4) | |
X | g.31774036A>C | CA412658871 | DMD | c.2312T>G (p.Leu771Arg) c.86T>G (p.Leu29Arg) n.1127T>G n.1049T>G n.958T>G c.7466T>G (p.Leu2489Arg) c.3434T>G (p.Leu1145Arg) c.455T>G (p.Leu152Arg) c.554T>G (p.Leu185Arg) c.7454T>G (p.Leu2485Arg) c.223T>G (n.223T>G) c.7451T>G (p.Leu2484Arg) c.7463T>G (p.Leu2488Arg) c.7442T>G (p.Leu2481Arg) c.7097T>G (p.Leu2366Arg) c.3443T>G (p.Leu1148Arg) c.7337T>G (p.Leu2446Arg) c.7328T>G (p.Leu2443Arg) c.7343T>G (p.Leu2448Arg) c.1640T>G (p.Leu547Arg) | |
X | g.31774036A>G | CA412658872 | DMD | c.2312T>C (p.Leu771Pro) c.86T>C (p.Leu29Pro) n.1127T>C n.1049T>C n.958T>C c.7466T>C (p.Leu2489Pro) c.3434T>C (p.Leu1145Pro) c.455T>C (p.Leu152Pro) c.554T>C (p.Leu185Pro) c.7454T>C (p.Leu2485Pro) c.223T>C (n.223T>C) c.7451T>C (p.Leu2484Pro) c.7463T>C (p.Leu2488Pro) c.7442T>C (p.Leu2481Pro) c.7097T>C (p.Leu2366Pro) c.3443T>C (p.Leu1148Pro) c.7337T>C (p.Leu2446Pro) c.7328T>C (p.Leu2443Pro) c.7343T>C (p.Leu2448Pro) c.1640T>C (p.Leu547Pro) | |
X | g.31774036A>T | CA412658873 | DMD | c.2312T>A (p.Leu771His) c.86T>A (p.Leu29His) n.1127T>A n.1049T>A n.958T>A c.7466T>A (p.Leu2489His) c.3434T>A (p.Leu1145His) c.455T>A (p.Leu152His) c.554T>A (p.Leu185His) c.7454T>A (p.Leu2485His) c.223T>A (n.223T>A) c.7451T>A (p.Leu2484His) c.7463T>A (p.Leu2488His) c.7442T>A (p.Leu2481His) c.7097T>A (p.Leu2366His) c.3443T>A (p.Leu1148His) c.7337T>A (p.Leu2446His) c.7328T>A (p.Leu2443His) c.7343T>A (p.Leu2448His) c.1640T>A (p.Leu547His) | |
X | g.31774037G>A | CA412658874 | DMD | c.2311C>T (p.Leu771Phe) c.85C>T (p.Leu29Phe) n.1126C>T n.1048C>T n.957C>T c.7465C>T (p.Leu2489Phe) c.3433C>T (p.Leu1145Phe) c.454C>T (p.Leu152Phe) c.553C>T (p.Leu185Phe) c.7453C>T (p.Leu2485Phe) c.222C>T (n.222C>T) c.7450C>T (p.Leu2484Phe) c.7462C>T (p.Leu2488Phe) c.7441C>T (p.Leu2481Phe) c.7096C>T (p.Leu2366Phe) c.3442C>T (p.Leu1148Phe) c.7336C>T (p.Leu2446Phe) c.7327C>T (p.Leu2443Phe) c.7342C>T (p.Leu2448Phe) c.1639C>T (p.Leu547Phe) | |
X | g.31774037G>C | CA412658875 | DMD | c.2311C>G (p.Leu771Val) c.85C>G (p.Leu29Val) n.1126C>G n.1048C>G n.957C>G c.7465C>G (p.Leu2489Val) c.3433C>G (p.Leu1145Val) c.454C>G (p.Leu152Val) c.553C>G (p.Leu185Val) c.7453C>G (p.Leu2485Val) c.222C>G (n.222C>G) c.7450C>G (p.Leu2484Val) c.7462C>G (p.Leu2488Val) c.7441C>G (p.Leu2481Val) c.7096C>G (p.Leu2366Val) c.3442C>G (p.Leu1148Val) c.7336C>G (p.Leu2446Val) c.7327C>G (p.Leu2443Val) c.7342C>G (p.Leu2448Val) c.1639C>G (p.Leu547Val) | |
X | g.31774037G>T | CA412658876 | DMD | c.2311C>A (p.Leu771Ile) c.85C>A (p.Leu29Ile) n.1126C>A n.1048C>A n.957C>A c.7465C>A (p.Leu2489Ile) c.3433C>A (p.Leu1145Ile) c.454C>A (p.Leu152Ile) c.553C>A (p.Leu185Ile) c.7453C>A (p.Leu2485Ile) c.222C>A (n.222C>A) c.7450C>A (p.Leu2484Ile) c.7462C>A (p.Leu2488Ile) c.7441C>A (p.Leu2481Ile) c.7096C>A (p.Leu2366Ile) c.3442C>A (p.Leu1148Ile) c.7336C>A (p.Leu2446Ile) c.7327C>A (p.Leu2443Ile) c.7342C>A (p.Leu2448Ile) c.1639C>A (p.Leu547Ile) | |
X | g.31774038C>A | CA515859328 | DMD | c.2310G>T (p.Leu770=) c.84G>T (p.Leu28=) n.1125G>T n.1047G>T n.956G>T c.7464G>T (p.Leu2488=) c.3432G>T (p.Leu1144=) c.453G>T (p.Leu151=) c.552G>T (p.Leu184=) c.7452G>T (p.Leu2484=) c.221G>T (n.221G>T) c.7449G>T (p.Leu2483=) c.7461G>T (p.Leu2487=) c.7440G>T (p.Leu2480=) c.7095G>T (p.Leu2365=) c.3441G>T (p.Leu1147=) c.7335G>T (p.Leu2445=) c.7326G>T (p.Leu2442=) c.7341G>T (p.Leu2447=) c.1638G>T (p.Leu546=) | |
X | g.31774038C= | CA2422548633 | DMD | c.2310G= (p.Leu770=) c.84G= (p.Leu28=) n.1125G= n.1047G= n.956G= c.7464G= (p.Leu2488=) c.3432G= (p.Leu1144=) c.453G= (p.Leu151=) c.552G= (p.Leu184=) c.7452G= (p.Leu2484=) c.221G= (n.221G=) c.7449G= (p.Leu2483=) c.7461G= (p.Leu2487=) c.7440G= (p.Leu2480=) c.7095G= (p.Leu2365=) c.3441G= (p.Leu1147=) c.7335G= (p.Leu2445=) c.7326G= (p.Leu2442=) c.7341G= (p.Leu2447=) c.1638G= (p.Leu546=) | |
X | g.31774038C>G | CA515859329 | DMD | c.2310G>C (p.Leu770=) c.84G>C (p.Leu28=) n.1125G>C n.1047G>C n.956G>C c.7464G>C (p.Leu2488=) c.3432G>C (p.Leu1144=) c.453G>C (p.Leu151=) c.552G>C (p.Leu184=) c.7452G>C (p.Leu2484=) c.221G>C (n.221G>C) c.7449G>C (p.Leu2483=) c.7461G>C (p.Leu2487=) c.7440G>C (p.Leu2480=) c.7095G>C (p.Leu2365=) c.3441G>C (p.Leu1147=) c.7335G>C (p.Leu2445=) c.7326G>C (p.Leu2442=) c.7341G>C (p.Leu2447=) c.1638G>C (p.Leu546=) | |
X | g.31774038C>T | CA515859330 | DMD | c.2310G>A (p.Leu770=) c.84G>A (p.Leu28=) n.1125G>A n.1047G>A n.956G>A c.7464G>A (p.Leu2488=) c.3432G>A (p.Leu1144=) c.453G>A (p.Leu151=) c.552G>A (p.Leu184=) c.7452G>A (p.Leu2484=) c.221G>A (n.221G>A) c.7449G>A (p.Leu2483=) c.7461G>A (p.Leu2487=) c.7440G>A (p.Leu2480=) c.7095G>A (p.Leu2365=) c.3441G>A (p.Leu1147=) c.7335G>A (p.Leu2445=) c.7326G>A (p.Leu2442=) c.7341G>A (p.Leu2447=) c.1638G>A (p.Leu546=) | ClinVar dbSNP gnomAD v4 |
X | g.31774039A>C | CA412658877 | DMD | c.2309T>G (p.Leu770Arg) c.83T>G (p.Leu28Arg) n.1124T>G n.1046T>G n.955T>G c.7463T>G (p.Leu2488Arg) c.3431T>G (p.Leu1144Arg) c.452T>G (p.Leu151Arg) c.551T>G (p.Leu184Arg) c.7451T>G (p.Leu2484Arg) c.220T>G (n.220T>G) c.7448T>G (p.Leu2483Arg) c.7460T>G (p.Leu2487Arg) c.7439T>G (p.Leu2480Arg) c.7094T>G (p.Leu2365Arg) c.3440T>G (p.Leu1147Arg) c.7334T>G (p.Leu2445Arg) c.7325T>G (p.Leu2442Arg) c.7340T>G (p.Leu2447Arg) c.1637T>G (p.Leu546Arg) | |
X | g.31774039A>G | CA412658878 | DMD | c.2309T>C (p.Leu770Pro) c.83T>C (p.Leu28Pro) n.1124T>C n.1046T>C n.955T>C c.7463T>C (p.Leu2488Pro) c.3431T>C (p.Leu1144Pro) c.452T>C (p.Leu151Pro) c.551T>C (p.Leu184Pro) c.7451T>C (p.Leu2484Pro) c.220T>C (n.220T>C) c.7448T>C (p.Leu2483Pro) c.7460T>C (p.Leu2487Pro) c.7439T>C (p.Leu2480Pro) c.7094T>C (p.Leu2365Pro) c.3440T>C (p.Leu1147Pro) c.7334T>C (p.Leu2445Pro) c.7325T>C (p.Leu2442Pro) c.7340T>C (p.Leu2447Pro) c.1637T>C (p.Leu546Pro) | |
X | g.31774039A>T | CA412658879 | DMD | c.2309T>A (p.Leu770Gln) c.83T>A (p.Leu28Gln) n.1124T>A n.1046T>A n.955T>A c.7463T>A (p.Leu2488Gln) c.3431T>A (p.Leu1144Gln) c.452T>A (p.Leu151Gln) c.551T>A (p.Leu184Gln) c.7451T>A (p.Leu2484Gln) c.220T>A (n.220T>A) c.7448T>A (p.Leu2483Gln) c.7460T>A (p.Leu2487Gln) c.7439T>A (p.Leu2480Gln) c.7094T>A (p.Leu2365Gln) c.3440T>A (p.Leu1147Gln) c.7334T>A (p.Leu2445Gln) c.7325T>A (p.Leu2442Gln) c.7340T>A (p.Leu2447Gln) c.1637T>A (p.Leu546Gln) | |
X | g.31774040G>A | CA515859331 | DMD | c.2308C>T (p.Leu770=) c.82C>T (p.Leu28=) n.1123C>T n.1045C>T n.954C>T c.7462C>T (p.Leu2488=) c.3430C>T (p.Leu1144=) c.451C>T (p.Leu151=) c.550C>T (p.Leu184=) c.7450C>T (p.Leu2484=) c.219C>T (n.219C>T) c.7447C>T (p.Leu2483=) c.7459C>T (p.Leu2487=) c.7438C>T (p.Leu2480=) c.7093C>T (p.Leu2365=) c.3439C>T (p.Leu1147=) c.7333C>T (p.Leu2445=) c.7324C>T (p.Leu2442=) c.7339C>T (p.Leu2447=) c.1636C>T (p.Leu546=) | ClinVar dbSNP |
X | g.31774040G>C | CA412658880 | DMD | c.2308C>G (p.Leu770Val) c.82C>G (p.Leu28Val) n.1123C>G n.1045C>G n.954C>G c.7462C>G (p.Leu2488Val) c.3430C>G (p.Leu1144Val) c.451C>G (p.Leu151Val) c.550C>G (p.Leu184Val) c.7450C>G (p.Leu2484Val) c.219C>G (n.219C>G) c.7447C>G (p.Leu2483Val) c.7459C>G (p.Leu2487Val) c.7438C>G (p.Leu2480Val) c.7093C>G (p.Leu2365Val) c.3439C>G (p.Leu1147Val) c.7333C>G (p.Leu2445Val) c.7324C>G (p.Leu2442Val) c.7339C>G (p.Leu2447Val) c.1636C>G (p.Leu546Val) | |
X | g.31774040G>T | CA412658881 | DMD | c.2308C>A (p.Leu770Met) c.82C>A (p.Leu28Met) n.1123C>A n.1045C>A n.954C>A c.7462C>A (p.Leu2488Met) c.3430C>A (p.Leu1144Met) c.451C>A (p.Leu151Met) c.550C>A (p.Leu184Met) c.7450C>A (p.Leu2484Met) c.219C>A (n.219C>A) c.7447C>A (p.Leu2483Met) c.7459C>A (p.Leu2487Met) c.7438C>A (p.Leu2480Met) c.7093C>A (p.Leu2365Met) c.3439C>A (p.Leu1147Met) c.7333C>A (p.Leu2445Met) c.7324C>A (p.Leu2442Met) c.7339C>A (p.Leu2447Met) c.1636C>A (p.Leu546Met) | |
X | g.31774041A>C | CA515859332 | DMD | c.2307T>G (p.Ser769=) c.81T>G (p.Ser27=) n.1122T>G n.1044T>G n.953T>G c.7461T>G (p.Ser2487=) c.3429T>G (p.Ser1143=) c.450T>G (p.Ser150=) c.549T>G (p.Ser183=) c.7449T>G (p.Ser2483=) c.218T>G (n.218T>G) c.7446T>G (p.Ser2482=) c.7458T>G (p.Ser2486=) c.7437T>G (p.Ser2479=) c.7092T>G (p.Ser2364=) c.3438T>G (p.Ser1146=) c.7332T>G (p.Ser2444=) c.7323T>G (p.Ser2441=) c.7338T>G (p.Ser2446=) c.1635T>G (p.Ser545=) | |
X | g.31774041A>G | CA515859333 | DMD | c.2307T>C (p.Ser769=) c.81T>C (p.Ser27=) n.1122T>C n.1044T>C n.953T>C c.7461T>C (p.Ser2487=) c.3429T>C (p.Ser1143=) c.450T>C (p.Ser150=) c.549T>C (p.Ser183=) c.7449T>C (p.Ser2483=) c.218T>C (n.218T>C) c.7446T>C (p.Ser2482=) c.7458T>C (p.Ser2486=) c.7437T>C (p.Ser2479=) c.7092T>C (p.Ser2364=) c.3438T>C (p.Ser1146=) c.7332T>C (p.Ser2444=) c.7323T>C (p.Ser2441=) c.7338T>C (p.Ser2446=) c.1635T>C (p.Ser545=) | |
X | g.31774041A>T | CA515859334 | DMD | c.2307T>A (p.Ser769=) c.81T>A (p.Ser27=) n.1122T>A n.1044T>A n.953T>A c.7461T>A (p.Ser2487=) c.3429T>A (p.Ser1143=) c.450T>A (p.Ser150=) c.549T>A (p.Ser183=) c.7449T>A (p.Ser2483=) c.218T>A (n.218T>A) c.7446T>A (p.Ser2482=) c.7458T>A (p.Ser2486=) c.7437T>A (p.Ser2479=) c.7092T>A (p.Ser2364=) c.3438T>A (p.Ser1146=) c.7332T>A (p.Ser2444=) c.7323T>A (p.Ser2441=) c.7338T>A (p.Ser2446=) c.1635T>A (p.Ser545=) | |
X | g.31774042G>A | CA412658882 | DMD | c.2306C>T (p.Ser769Phe) c.80C>T (p.Ser27Phe) n.1121C>T n.1043C>T n.952C>T c.7460C>T (p.Ser2487Phe) c.3428C>T (p.Ser1143Phe) c.449C>T (p.Ser150Phe) c.548C>T (p.Ser183Phe) c.7448C>T (p.Ser2483Phe) c.217C>T (n.217C>T) c.7445C>T (p.Ser2482Phe) c.7457C>T (p.Ser2486Phe) c.7436C>T (p.Ser2479Phe) c.7091C>T (p.Ser2364Phe) c.3437C>T (p.Ser1146Phe) c.7331C>T (p.Ser2444Phe) c.7322C>T (p.Ser2441Phe) c.7337C>T (p.Ser2446Phe) c.1634C>T (p.Ser545Phe) | |
X | g.31774042G>C | CA412658884 | DMD | c.2306C>G (p.Ser769Cys) c.80C>G (p.Ser27Cys) n.1121C>G n.1043C>G n.952C>G c.7460C>G (p.Ser2487Cys) c.3428C>G (p.Ser1143Cys) c.449C>G (p.Ser150Cys) c.548C>G (p.Ser183Cys) c.7448C>G (p.Ser2483Cys) c.217C>G (n.217C>G) c.7445C>G (p.Ser2482Cys) c.7457C>G (p.Ser2486Cys) c.7436C>G (p.Ser2479Cys) c.7091C>G (p.Ser2364Cys) c.3437C>G (p.Ser1146Cys) c.7331C>G (p.Ser2444Cys) c.7322C>G (p.Ser2441Cys) c.7337C>G (p.Ser2446Cys) c.1634C>G (p.Ser545Cys) | |
X | g.31774042G>T | CA412658883 | DMD | c.2306C>A (p.Ser769Tyr) c.80C>A (p.Ser27Tyr) n.1121C>A n.1043C>A n.952C>A c.7460C>A (p.Ser2487Tyr) c.3428C>A (p.Ser1143Tyr) c.449C>A (p.Ser150Tyr) c.548C>A (p.Ser183Tyr) c.7448C>A (p.Ser2483Tyr) c.217C>A (n.217C>A) c.7445C>A (p.Ser2482Tyr) c.7457C>A (p.Ser2486Tyr) c.7436C>A (p.Ser2479Tyr) c.7091C>A (p.Ser2364Tyr) c.3437C>A (p.Ser1146Tyr) c.7331C>A (p.Ser2444Tyr) c.7322C>A (p.Ser2441Tyr) c.7337C>A (p.Ser2446Tyr) c.1634C>A (p.Ser545Tyr) | gnomAD v4 |
X | g.31774043A>C | CA412658885 | DMD | c.2305T>G (p.Ser769Ala) c.79T>G (p.Ser27Ala) n.1120T>G n.1042T>G n.951T>G c.7459T>G (p.Ser2487Ala) c.3427T>G (p.Ser1143Ala) c.448T>G (p.Ser150Ala) c.547T>G (p.Ser183Ala) c.7447T>G (p.Ser2483Ala) c.216T>G (n.216T>G) c.7444T>G (p.Ser2482Ala) c.7456T>G (p.Ser2486Ala) c.7435T>G (p.Ser2479Ala) c.7090T>G (p.Ser2364Ala) c.3436T>G (p.Ser1146Ala) c.7330T>G (p.Ser2444Ala) c.7321T>G (p.Ser2441Ala) c.7336T>G (p.Ser2446Ala) c.1633T>G (p.Ser545Ala) | |
X | g.31774043A>G | CA412658887 | DMD | c.2305T>C (p.Ser769Pro) c.79T>C (p.Ser27Pro) n.1120T>C n.1042T>C n.951T>C c.7459T>C (p.Ser2487Pro) c.3427T>C (p.Ser1143Pro) c.448T>C (p.Ser150Pro) c.547T>C (p.Ser183Pro) c.7447T>C (p.Ser2483Pro) c.216T>C (n.216T>C) c.7444T>C (p.Ser2482Pro) c.7456T>C (p.Ser2486Pro) c.7435T>C (p.Ser2479Pro) c.7090T>C (p.Ser2364Pro) c.3436T>C (p.Ser1146Pro) c.7330T>C (p.Ser2444Pro) c.7321T>C (p.Ser2441Pro) c.7336T>C (p.Ser2446Pro) c.1633T>C (p.Ser545Pro) | |
X | g.31774043A>T | CA412658886 | DMD | c.2305T>A (p.Ser769Thr) c.79T>A (p.Ser27Thr) n.1120T>A n.1042T>A n.951T>A c.7459T>A (p.Ser2487Thr) c.3427T>A (p.Ser1143Thr) c.448T>A (p.Ser150Thr) c.547T>A (p.Ser183Thr) c.7447T>A (p.Ser2483Thr) c.216T>A (n.216T>A) c.7444T>A (p.Ser2482Thr) c.7456T>A (p.Ser2486Thr) c.7435T>A (p.Ser2479Thr) c.7090T>A (p.Ser2364Thr) c.3436T>A (p.Ser1146Thr) c.7330T>A (p.Ser2444Thr) c.7321T>A (p.Ser2441Thr) c.7336T>A (p.Ser2446Thr) c.1633T>A (p.Ser545Thr) | |
X | g.31774044A>C | CA515859335 | DMD | c.2304T>G (p.Leu768=) c.78T>G (p.Leu26=) n.1119T>G n.1041T>G n.950T>G c.7458T>G (p.Leu2486=) c.3426T>G (p.Leu1142=) c.447T>G (p.Leu149=) c.546T>G (p.Leu182=) c.7446T>G (p.Leu2482=) c.215T>G (n.215T>G) c.7443T>G (p.Leu2481=) c.7455T>G (p.Leu2485=) c.7434T>G (p.Leu2478=) c.7089T>G (p.Leu2363=) c.3435T>G (p.Leu1145=) c.7329T>G (p.Leu2443=) c.7320T>G (p.Leu2440=) c.7335T>G (p.Leu2445=) c.1632T>G (p.Leu544=) | ClinVar dbSNP |
X | g.31774044A>G | CA515859336 | DMD | c.2304T>C (p.Leu768=) c.78T>C (p.Leu26=) n.1119T>C n.1041T>C n.950T>C c.7458T>C (p.Leu2486=) c.3426T>C (p.Leu1142=) c.447T>C (p.Leu149=) c.546T>C (p.Leu182=) c.7446T>C (p.Leu2482=) c.215T>C (n.215T>C) c.7443T>C (p.Leu2481=) c.7455T>C (p.Leu2485=) c.7434T>C (p.Leu2478=) c.7089T>C (p.Leu2363=) c.3435T>C (p.Leu1145=) c.7329T>C (p.Leu2443=) c.7320T>C (p.Leu2440=) c.7335T>C (p.Leu2445=) c.1632T>C (p.Leu544=) | |
X | g.31774044A>T | CA515859337 | DMD | c.2304T>A (p.Leu768=) c.78T>A (p.Leu26=) n.1119T>A n.1041T>A n.950T>A c.7458T>A (p.Leu2486=) c.3426T>A (p.Leu1142=) c.447T>A (p.Leu149=) c.546T>A (p.Leu182=) c.7446T>A (p.Leu2482=) c.215T>A (n.215T>A) c.7443T>A (p.Leu2481=) c.7455T>A (p.Leu2485=) c.7434T>A (p.Leu2478=) c.7089T>A (p.Leu2363=) c.3435T>A (p.Leu1145=) c.7329T>A (p.Leu2443=) c.7320T>A (p.Leu2440=) c.7335T>A (p.Leu2445=) c.1632T>A (p.Leu544=) | |
X | g.31774045A>C | CA412658888 | DMD | c.2303T>G (p.Leu768Arg) c.77T>G (p.Leu26Arg) n.1118T>G n.1040T>G n.949T>G c.7457T>G (p.Leu2486Arg) c.3425T>G (p.Leu1142Arg) c.446T>G (p.Leu149Arg) c.545T>G (p.Leu182Arg) c.7445T>G (p.Leu2482Arg) c.214T>G (n.214T>G) c.7442T>G (p.Leu2481Arg) c.7454T>G (p.Leu2485Arg) c.7433T>G (p.Leu2478Arg) c.7088T>G (p.Leu2363Arg) c.3434T>G (p.Leu1145Arg) c.7328T>G (p.Leu2443Arg) c.7319T>G (p.Leu2440Arg) c.7334T>G (p.Leu2445Arg) c.1631T>G (p.Leu544Arg) | |
X | g.31774045A>G | CA412658890 | DMD | c.2303T>C (p.Leu768Pro) c.77T>C (p.Leu26Pro) n.1118T>C n.1040T>C n.949T>C c.7457T>C (p.Leu2486Pro) c.3425T>C (p.Leu1142Pro) c.446T>C (p.Leu149Pro) c.545T>C (p.Leu182Pro) c.7445T>C (p.Leu2482Pro) c.214T>C (n.214T>C) c.7442T>C (p.Leu2481Pro) c.7454T>C (p.Leu2485Pro) c.7433T>C (p.Leu2478Pro) c.7088T>C (p.Leu2363Pro) c.3434T>C (p.Leu1145Pro) c.7328T>C (p.Leu2443Pro) c.7319T>C (p.Leu2440Pro) c.7334T>C (p.Leu2445Pro) c.1631T>C (p.Leu544Pro) | |
X | g.31774045A>T | CA412658889 | DMD | c.2303T>A (p.Leu768His) c.77T>A (p.Leu26His) n.1118T>A n.1040T>A n.949T>A c.7457T>A (p.Leu2486His) c.3425T>A (p.Leu1142His) c.446T>A (p.Leu149His) c.545T>A (p.Leu182His) c.7445T>A (p.Leu2482His) c.214T>A (n.214T>A) c.7442T>A (p.Leu2481His) c.7454T>A (p.Leu2485His) c.7433T>A (p.Leu2478His) c.7088T>A (p.Leu2363His) c.3434T>A (p.Leu1145His) c.7328T>A (p.Leu2443His) c.7319T>A (p.Leu2440His) c.7334T>A (p.Leu2445His) c.1631T>A (p.Leu544His) | |
X | g.31774046G>A | CA412658891 | DMD | c.2302C>T (p.Leu768Phe) c.76C>T (p.Leu26Phe) n.1117C>T n.1039C>T n.948C>T c.7456C>T (p.Leu2486Phe) c.3424C>T (p.Leu1142Phe) c.445C>T (p.Leu149Phe) c.544C>T (p.Leu182Phe) c.7444C>T (p.Leu2482Phe) c.213C>T (n.213C>T) c.7441C>T (p.Leu2481Phe) c.7453C>T (p.Leu2485Phe) c.7432C>T (p.Leu2478Phe) c.7087C>T (p.Leu2363Phe) c.3433C>T (p.Leu1145Phe) c.7327C>T (p.Leu2443Phe) c.7318C>T (p.Leu2440Phe) c.7333C>T (p.Leu2445Phe) c.1630C>T (p.Leu544Phe) | ClinVar |
X | g.31774046G>C | CA412658892 | DMD | c.2302C>G (p.Leu768Val) c.76C>G (p.Leu26Val) n.1117C>G n.1039C>G n.948C>G c.7456C>G (p.Leu2486Val) c.3424C>G (p.Leu1142Val) c.445C>G (p.Leu149Val) c.544C>G (p.Leu182Val) c.7444C>G (p.Leu2482Val) c.213C>G (n.213C>G) c.7441C>G (p.Leu2481Val) c.7453C>G (p.Leu2485Val) c.7432C>G (p.Leu2478Val) c.7087C>G (p.Leu2363Val) c.3433C>G (p.Leu1145Val) c.7327C>G (p.Leu2443Val) c.7318C>G (p.Leu2440Val) c.7333C>G (p.Leu2445Val) c.1630C>G (p.Leu544Val) | |
X | g.31774046G= | CA2422548634 | DMD | c.2302C= (p.Leu768=) c.76C= (p.Leu26=) n.1117C= n.1039C= n.948C= c.7456C= (p.Leu2486=) c.3424C= (p.Leu1142=) c.445C= (p.Leu149=) c.544C= (p.Leu182=) c.7444C= (p.Leu2482=) c.213C= (n.213C=) c.7441C= (p.Leu2481=) c.7453C= (p.Leu2485=) c.7432C= (p.Leu2478=) c.7087C= (p.Leu2363=) c.3433C= (p.Leu1145=) c.7327C= (p.Leu2443=) c.7318C= (p.Leu2440=) c.7333C= (p.Leu2445=) c.1630C= (p.Leu544=) | |
X | g.31774046G>T | CA412658893 | DMD | c.2302C>A (p.Leu768Ile) c.76C>A (p.Leu26Ile) n.1117C>A n.1039C>A n.948C>A c.7456C>A (p.Leu2486Ile) c.3424C>A (p.Leu1142Ile) c.445C>A (p.Leu149Ile) c.544C>A (p.Leu182Ile) c.7444C>A (p.Leu2482Ile) c.213C>A (n.213C>A) c.7441C>A (p.Leu2481Ile) c.7453C>A (p.Leu2485Ile) c.7432C>A (p.Leu2478Ile) c.7087C>A (p.Leu2363Ile) c.3433C>A (p.Leu1145Ile) c.7327C>A (p.Leu2443Ile) c.7318C>A (p.Leu2440Ile) c.7333C>A (p.Leu2445Ile) c.1630C>A (p.Leu544Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774047C>A | CA10378272 | DMD | c.2301G>T (p.Trp767Cys) c.75G>T (p.Trp25Cys) n.1116G>T n.1038G>T n.947G>T c.7455G>T (p.Trp2485Cys) c.3423G>T (p.Trp1141Cys) c.444G>T (p.Trp148Cys) c.543G>T (p.Trp181Cys) c.7443G>T (p.Trp2481Cys) c.212G>T (n.212G>T) c.7440G>T (p.Trp2480Cys) c.7452G>T (p.Trp2484Cys) c.7431G>T (p.Trp2477Cys) c.7086G>T (p.Trp2362Cys) c.3432G>T (p.Trp1144Cys) c.7326G>T (p.Trp2442Cys) c.7317G>T (p.Trp2439Cys) c.7332G>T (p.Trp2444Cys) c.1629G>T (p.Trp543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774047C= | CA2422548635 | DMD | c.2301G= (p.Trp767=) c.75G= (p.Trp25=) n.1116G= n.1038G= n.947G= c.7455G= (p.Trp2485=) c.3423G= (p.Trp1141=) c.444G= (p.Trp148=) c.543G= (p.Trp181=) c.7443G= (p.Trp2481=) c.212G= (n.212G=) c.7440G= (p.Trp2480=) c.7452G= (p.Trp2484=) c.7431G= (p.Trp2477=) c.7086G= (p.Trp2362=) c.3432G= (p.Trp1144=) c.7326G= (p.Trp2442=) c.7317G= (p.Trp2439=) c.7332G= (p.Trp2444=) c.1629G= (p.Trp543=) | |
X | g.31774047C>G | CA412658894 | DMD | c.2301G>C (p.Trp767Cys) c.75G>C (p.Trp25Cys) n.1116G>C n.1038G>C n.947G>C c.7455G>C (p.Trp2485Cys) c.3423G>C (p.Trp1141Cys) c.444G>C (p.Trp148Cys) c.543G>C (p.Trp181Cys) c.7443G>C (p.Trp2481Cys) c.212G>C (n.212G>C) c.7440G>C (p.Trp2480Cys) c.7452G>C (p.Trp2484Cys) c.7431G>C (p.Trp2477Cys) c.7086G>C (p.Trp2362Cys) c.3432G>C (p.Trp1144Cys) c.7326G>C (p.Trp2442Cys) c.7317G>C (p.Trp2439Cys) c.7332G>C (p.Trp2444Cys) c.1629G>C (p.Trp543Cys) | |
X | g.31774047C>T | CA412658895 | DMD | c.2301G>A (p.Trp767Ter) c.75G>A (p.Trp25Ter) n.1116G>A n.1038G>A n.947G>A c.7455G>A (p.Trp2485Ter) c.3423G>A (p.Trp1141Ter) c.444G>A (p.Trp148Ter) c.543G>A (p.Trp181Ter) c.7443G>A (p.Trp2481Ter) c.212G>A (n.212G>A) c.7440G>A (p.Trp2480Ter) c.7452G>A (p.Trp2484Ter) c.7431G>A (p.Trp2477Ter) c.7086G>A (p.Trp2362Ter) c.3432G>A (p.Trp1144Ter) c.7326G>A (p.Trp2442Ter) c.7317G>A (p.Trp2439Ter) c.7332G>A (p.Trp2444Ter) c.1629G>A (p.Trp543Ter) | |
X | g.31774048C>A | CA328470492 | DMD | c.2300G>T (p.Trp767Leu) c.74G>T (p.Trp25Leu) n.1115G>T n.1037G>T n.946G>T c.7454G>T (p.Trp2485Leu) c.3422G>T (p.Trp1141Leu) c.443G>T (p.Trp148Leu) c.542G>T (p.Trp181Leu) c.7442G>T (p.Trp2481Leu) c.211G>T (n.211G>T) c.7439G>T (p.Trp2480Leu) c.7451G>T (p.Trp2484Leu) c.7430G>T (p.Trp2477Leu) c.7085G>T (p.Trp2362Leu) c.3431G>T (p.Trp1144Leu) c.7325G>T (p.Trp2442Leu) c.7316G>T (p.Trp2439Leu) c.7331G>T (p.Trp2444Leu) c.1628G>T (p.Trp543Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774048C= | CA2422548636 | DMD | c.2300G= (p.Trp767=) c.74G= (p.Trp25=) n.1115G= n.1037G= n.946G= c.7454G= (p.Trp2485=) c.3422G= (p.Trp1141=) c.443G= (p.Trp148=) c.542G= (p.Trp181=) c.7442G= (p.Trp2481=) c.211G= (n.211G=) c.7439G= (p.Trp2480=) c.7451G= (p.Trp2484=) c.7430G= (p.Trp2477=) c.7085G= (p.Trp2362=) c.3431G= (p.Trp1144=) c.7325G= (p.Trp2442=) c.7316G= (p.Trp2439=) c.7331G= (p.Trp2444=) c.1628G= (p.Trp543=) | |
X | g.31774048C>G | CA412658896 | DMD | c.2300G>C (p.Trp767Ser) c.74G>C (p.Trp25Ser) n.1115G>C n.1037G>C n.946G>C c.7454G>C (p.Trp2485Ser) c.3422G>C (p.Trp1141Ser) c.443G>C (p.Trp148Ser) c.542G>C (p.Trp181Ser) c.7442G>C (p.Trp2481Ser) c.211G>C (n.211G>C) c.7439G>C (p.Trp2480Ser) c.7451G>C (p.Trp2484Ser) c.7430G>C (p.Trp2477Ser) c.7085G>C (p.Trp2362Ser) c.3431G>C (p.Trp1144Ser) c.7325G>C (p.Trp2442Ser) c.7316G>C (p.Trp2439Ser) c.7331G>C (p.Trp2444Ser) c.1628G>C (p.Trp543Ser) | |
X | g.31774048C>T | CA412658897 | DMD | c.2300G>A (p.Trp767Ter) c.74G>A (p.Trp25Ter) n.1115G>A n.1037G>A n.946G>A c.7454G>A (p.Trp2485Ter) c.3422G>A (p.Trp1141Ter) c.443G>A (p.Trp148Ter) c.542G>A (p.Trp181Ter) c.7442G>A (p.Trp2481Ter) c.211G>A (n.211G>A) c.7439G>A (p.Trp2480Ter) c.7451G>A (p.Trp2484Ter) c.7430G>A (p.Trp2477Ter) c.7085G>A (p.Trp2362Ter) c.3431G>A (p.Trp1144Ter) c.7325G>A (p.Trp2442Ter) c.7316G>A (p.Trp2439Ter) c.7331G>A (p.Trp2444Ter) c.1628G>A (p.Trp543Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774049A>C | CA412658898 | DMD | c.2299T>G (p.Trp767Gly) c.73T>G (p.Trp25Gly) n.1114T>G n.1036T>G n.945T>G c.7453T>G (p.Trp2485Gly) c.3421T>G (p.Trp1141Gly) c.442T>G (p.Trp148Gly) c.541T>G (p.Trp181Gly) c.7441T>G (p.Trp2481Gly) c.210T>G (n.210T>G) c.7438T>G (p.Trp2480Gly) c.7450T>G (p.Trp2484Gly) c.7429T>G (p.Trp2477Gly) c.7084T>G (p.Trp2362Gly) c.3430T>G (p.Trp1144Gly) c.7324T>G (p.Trp2442Gly) c.7315T>G (p.Trp2439Gly) c.7330T>G (p.Trp2444Gly) c.1627T>G (p.Trp543Gly) | |
X | g.31774049A>G | CA412658899 | DMD | c.2299T>C (p.Trp767Arg) c.73T>C (p.Trp25Arg) n.1114T>C n.1036T>C n.945T>C c.7453T>C (p.Trp2485Arg) c.3421T>C (p.Trp1141Arg) c.442T>C (p.Trp148Arg) c.541T>C (p.Trp181Arg) c.7441T>C (p.Trp2481Arg) c.210T>C (n.210T>C) c.7438T>C (p.Trp2480Arg) c.7450T>C (p.Trp2484Arg) c.7429T>C (p.Trp2477Arg) c.7084T>C (p.Trp2362Arg) c.3430T>C (p.Trp1144Arg) c.7324T>C (p.Trp2442Arg) c.7315T>C (p.Trp2439Arg) c.7330T>C (p.Trp2444Arg) c.1627T>C (p.Trp543Arg) | |
X | g.31774049A>T | CA412658900 | DMD | c.2299T>A (p.Trp767Arg) c.73T>A (p.Trp25Arg) n.1114T>A n.1036T>A n.945T>A c.7453T>A (p.Trp2485Arg) c.3421T>A (p.Trp1141Arg) c.442T>A (p.Trp148Arg) c.541T>A (p.Trp181Arg) c.7441T>A (p.Trp2481Arg) c.210T>A (n.210T>A) c.7438T>A (p.Trp2480Arg) c.7450T>A (p.Trp2484Arg) c.7429T>A (p.Trp2477Arg) c.7084T>A (p.Trp2362Arg) c.3430T>A (p.Trp1144Arg) c.7324T>A (p.Trp2442Arg) c.7315T>A (p.Trp2439Arg) c.7330T>A (p.Trp2444Arg) c.1627T>A (p.Trp543Arg) | |
X | g.31774050G>A | CA515859338 | DMD | c.2298C>T (p.Asp766=) c.72C>T (p.Asp24=) n.1113C>T n.1035C>T n.944C>T c.7452C>T (p.Asp2484=) c.3420C>T (p.Asp1140=) c.441C>T (p.Asp147=) c.540C>T (p.Asp180=) c.7440C>T (p.Asp2480=) c.209C>T (n.209C>T) c.7437C>T (p.Asp2479=) c.7449C>T (p.Asp2483=) c.7428C>T (p.Asp2476=) c.7083C>T (p.Asp2361=) c.3429C>T (p.Asp1143=) c.7323C>T (p.Asp2441=) c.7314C>T (p.Asp2438=) c.7329C>T (p.Asp2443=) c.1626C>T (p.Asp542=) | dbSNP |
X | g.31774050G>C | CA412658901 | DMD | c.2298C>G (p.Asp766Glu) c.72C>G (p.Asp24Glu) n.1113C>G n.1035C>G n.944C>G c.7452C>G (p.Asp2484Glu) c.3420C>G (p.Asp1140Glu) c.441C>G (p.Asp147Glu) c.540C>G (p.Asp180Glu) c.7440C>G (p.Asp2480Glu) c.209C>G (n.209C>G) c.7437C>G (p.Asp2479Glu) c.7449C>G (p.Asp2483Glu) c.7428C>G (p.Asp2476Glu) c.7083C>G (p.Asp2361Glu) c.3429C>G (p.Asp1143Glu) c.7323C>G (p.Asp2441Glu) c.7314C>G (p.Asp2438Glu) c.7329C>G (p.Asp2443Glu) c.1626C>G (p.Asp542Glu) | |
X | g.31774050G= | CA2422548637 | DMD | c.2298C= (p.Asp766=) c.72C= (p.Asp24=) n.1113C= n.1035C= n.944C= c.7452C= (p.Asp2484=) c.3420C= (p.Asp1140=) c.441C= (p.Asp147=) c.540C= (p.Asp180=) c.7440C= (p.Asp2480=) c.209C= (n.209C=) c.7437C= (p.Asp2479=) c.7449C= (p.Asp2483=) c.7428C= (p.Asp2476=) c.7083C= (p.Asp2361=) c.3429C= (p.Asp1143=) c.7323C= (p.Asp2441=) c.7314C= (p.Asp2438=) c.7329C= (p.Asp2443=) c.1626C= (p.Asp542=) | |
X | g.31774050G>T | CA412658902 | DMD | c.2298C>A (p.Asp766Glu) c.72C>A (p.Asp24Glu) n.1113C>A n.1035C>A n.944C>A c.7452C>A (p.Asp2484Glu) c.3420C>A (p.Asp1140Glu) c.441C>A (p.Asp147Glu) c.540C>A (p.Asp180Glu) c.7440C>A (p.Asp2480Glu) c.209C>A (n.209C>A) c.7437C>A (p.Asp2479Glu) c.7449C>A (p.Asp2483Glu) c.7428C>A (p.Asp2476Glu) c.7083C>A (p.Asp2361Glu) c.3429C>A (p.Asp1143Glu) c.7323C>A (p.Asp2441Glu) c.7314C>A (p.Asp2438Glu) c.7329C>A (p.Asp2443Glu) c.1626C>A (p.Asp542Glu) | ClinVar gnomAD v4 |
X | g.31774051T>A | CA412658903 | DMD | c.2297A>T (p.Asp766Val) c.71A>T (p.Asp24Val) n.1112A>T n.1034A>T n.943A>T c.7451A>T (p.Asp2484Val) c.3419A>T (p.Asp1140Val) c.440A>T (p.Asp147Val) c.539A>T (p.Asp180Val) c.7439A>T (p.Asp2480Val) c.208A>T (n.208A>T) c.7436A>T (p.Asp2479Val) c.7448A>T (p.Asp2483Val) c.7427A>T (p.Asp2476Val) c.7082A>T (p.Asp2361Val) c.3428A>T (p.Asp1143Val) c.7322A>T (p.Asp2441Val) c.7313A>T (p.Asp2438Val) c.7328A>T (p.Asp2443Val) c.1625A>T (p.Asp542Val) | |
X | g.31774051T>C | CA412658904 | DMD | c.2297A>G (p.Asp766Gly) c.71A>G (p.Asp24Gly) n.1112A>G n.1034A>G n.943A>G c.7451A>G (p.Asp2484Gly) c.3419A>G (p.Asp1140Gly) c.440A>G (p.Asp147Gly) c.539A>G (p.Asp180Gly) c.7439A>G (p.Asp2480Gly) c.208A>G (n.208A>G) c.7436A>G (p.Asp2479Gly) c.7448A>G (p.Asp2483Gly) c.7427A>G (p.Asp2476Gly) c.7082A>G (p.Asp2361Gly) c.3428A>G (p.Asp1143Gly) c.7322A>G (p.Asp2441Gly) c.7313A>G (p.Asp2438Gly) c.7328A>G (p.Asp2443Gly) c.1625A>G (p.Asp542Gly) | |
X | g.31774051T>G | CA412658905 | DMD | c.2297A>C (p.Asp766Ala) c.71A>C (p.Asp24Ala) n.1112A>C n.1034A>C n.943A>C c.7451A>C (p.Asp2484Ala) c.3419A>C (p.Asp1140Ala) c.440A>C (p.Asp147Ala) c.539A>C (p.Asp180Ala) c.7439A>C (p.Asp2480Ala) c.208A>C (n.208A>C) c.7436A>C (p.Asp2479Ala) c.7448A>C (p.Asp2483Ala) c.7427A>C (p.Asp2476Ala) c.7082A>C (p.Asp2361Ala) c.3428A>C (p.Asp1143Ala) c.7322A>C (p.Asp2441Ala) c.7313A>C (p.Asp2438Ala) c.7328A>C (p.Asp2443Ala) c.1625A>C (p.Asp542Ala) | |
X | g.31774051_31774055delinsAGA | CA2695232442 | DMD | c.2293_2297delinsTCT (p.Thr765SerfsTer7) c.67_71delinsTCT (p.Thr23SerfsTer7) n.1108_1112delinsTCT n.1030_1034delinsTCT n.939_943delinsTCT c.7447_7451delinsTCT (p.Thr2483SerfsTer7) c.3415_3419delinsTCT (p.Thr1139SerfsTer7) c.436_440delinsTCT (p.Thr146SerfsTer7) c.535_539delinsTCT (p.Thr179SerfsTer7) c.7435_7439delinsTCT (p.Thr2479SerfsTer7) c.204_208delinsTCT (n.204_208delinsTCT) c.7432_7436delinsTCT (p.Thr2478SerfsTer7) c.7444_7448delinsTCT (p.Thr2482SerfsTer7) c.7423_7427delinsTCT (p.Thr2475SerfsTer7) c.7078_7082delinsTCT (p.Thr2360SerfsTer7) c.3424_3428delinsTCT (p.Thr1142SerfsTer7) c.7318_7322delinsTCT (p.Thr2440SerfsTer7) c.7309_7313delinsTCT (p.Thr2437SerfsTer7) c.7324_7328delinsTCT (p.Thr2442SerfsTer7) c.1621_1625delinsTCT (p.Thr541SerfsTer7) | |
X | g.31774052C>A | CA412658906 | DMD | c.2296G>T (p.Asp766Tyr) c.70G>T (p.Asp24Tyr) n.1111G>T n.1033G>T n.942G>T c.7450G>T (p.Asp2484Tyr) c.3418G>T (p.Asp1140Tyr) c.439G>T (p.Asp147Tyr) c.538G>T (p.Asp180Tyr) c.7438G>T (p.Asp2480Tyr) c.207G>T (n.207G>T) c.7435G>T (p.Asp2479Tyr) c.7447G>T (p.Asp2483Tyr) c.7426G>T (p.Asp2476Tyr) c.7081G>T (p.Asp2361Tyr) c.3427G>T (p.Asp1143Tyr) c.7321G>T (p.Asp2441Tyr) c.7312G>T (p.Asp2438Tyr) c.7327G>T (p.Asp2443Tyr) c.1624G>T (p.Asp542Tyr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774052C= | CA2422548638 | DMD | c.2296G= (p.Asp766=) c.70G= (p.Asp24=) n.1111G= n.1033G= n.942G= c.7450G= (p.Asp2484=) c.3418G= (p.Asp1140=) c.439G= (p.Asp147=) c.538G= (p.Asp180=) c.7438G= (p.Asp2480=) c.207G= (n.207G=) c.7435G= (p.Asp2479=) c.7447G= (p.Asp2483=) c.7426G= (p.Asp2476=) c.7081G= (p.Asp2361=) c.3427G= (p.Asp1143=) c.7321G= (p.Asp2441=) c.7312G= (p.Asp2438=) c.7327G= (p.Asp2443=) c.1624G= (p.Asp542=) | |
X | g.31774052C>G | CA10378274 | DMD | c.2296G>C (p.Asp766His) c.70G>C (p.Asp24His) n.1111G>C n.1033G>C n.942G>C c.7450G>C (p.Asp2484His) c.3418G>C (p.Asp1140His) c.439G>C (p.Asp147His) c.538G>C (p.Asp180His) c.7438G>C (p.Asp2480His) c.207G>C (n.207G>C) c.7435G>C (p.Asp2479His) c.7447G>C (p.Asp2483His) c.7426G>C (p.Asp2476His) c.7081G>C (p.Asp2361His) c.3427G>C (p.Asp1143His) c.7321G>C (p.Asp2441His) c.7312G>C (p.Asp2438His) c.7327G>C (p.Asp2443His) c.1624G>C (p.Asp542His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774052C>T | CA10378273 | DMD | c.2296G>A (p.Asp766Asn) c.70G>A (p.Asp24Asn) n.1111G>A n.1033G>A n.942G>A c.7450G>A (p.Asp2484Asn) c.3418G>A (p.Asp1140Asn) c.439G>A (p.Asp147Asn) c.538G>A (p.Asp180Asn) c.7438G>A (p.Asp2480Asn) c.207G>A (n.207G>A) c.7435G>A (p.Asp2479Asn) c.7447G>A (p.Asp2483Asn) c.7426G>A (p.Asp2476Asn) c.7081G>A (p.Asp2361Asn) c.3427G>A (p.Asp1143Asn) c.7321G>A (p.Asp2441Asn) c.7312G>A (p.Asp2438Asn) c.7327G>A (p.Asp2443Asn) c.1624G>A (p.Asp542Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774053G>A | CA10378275 | DMD | c.2295C>T (p.Thr765=) c.69C>T (p.Thr23=) n.1110C>T n.1032C>T n.941C>T c.7449C>T (p.Thr2483=) c.3417C>T (p.Thr1139=) c.438C>T (p.Thr146=) c.537C>T (p.Thr179=) c.7437C>T (p.Thr2479=) c.206C>T (n.206C>T) c.7434C>T (p.Thr2478=) c.7446C>T (p.Thr2482=) c.7425C>T (p.Thr2475=) c.7080C>T (p.Thr2360=) c.3426C>T (p.Thr1142=) c.7320C>T (p.Thr2440=) c.7311C>T (p.Thr2437=) c.7326C>T (p.Thr2442=) c.1623C>T (p.Thr541=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774053G>C | CA515859339 | DMD | c.2295C>G (p.Thr765=) c.69C>G (p.Thr23=) n.1110C>G n.1032C>G n.941C>G c.7449C>G (p.Thr2483=) c.3417C>G (p.Thr1139=) c.438C>G (p.Thr146=) c.537C>G (p.Thr179=) c.7437C>G (p.Thr2479=) c.206C>G (n.206C>G) c.7434C>G (p.Thr2478=) c.7446C>G (p.Thr2482=) c.7425C>G (p.Thr2475=) c.7080C>G (p.Thr2360=) c.3426C>G (p.Thr1142=) c.7320C>G (p.Thr2440=) c.7311C>G (p.Thr2437=) c.7326C>G (p.Thr2442=) c.1623C>G (p.Thr541=) | |
X | g.31774053G= | CA2422548639 | DMD | c.2295C= (p.Thr765=) c.69C= (p.Thr23=) n.1110C= n.1032C= n.941C= c.7449C= (p.Thr2483=) c.3417C= (p.Thr1139=) c.438C= (p.Thr146=) c.537C= (p.Thr179=) c.7437C= (p.Thr2479=) c.206C= (n.206C=) c.7434C= (p.Thr2478=) c.7446C= (p.Thr2482=) c.7425C= (p.Thr2475=) c.7080C= (p.Thr2360=) c.3426C= (p.Thr1142=) c.7320C= (p.Thr2440=) c.7311C= (p.Thr2437=) c.7326C= (p.Thr2442=) c.1623C= (p.Thr541=) | |
X | g.31774053G>T | CA515859340 | DMD | c.2295C>A (p.Thr765=) c.69C>A (p.Thr23=) n.1110C>A n.1032C>A n.941C>A c.7449C>A (p.Thr2483=) c.3417C>A (p.Thr1139=) c.438C>A (p.Thr146=) c.537C>A (p.Thr179=) c.7437C>A (p.Thr2479=) c.206C>A (n.206C>A) c.7434C>A (p.Thr2478=) c.7446C>A (p.Thr2482=) c.7425C>A (p.Thr2475=) c.7080C>A (p.Thr2360=) c.3426C>A (p.Thr1142=) c.7320C>A (p.Thr2440=) c.7311C>A (p.Thr2437=) c.7326C>A (p.Thr2442=) c.1623C>A (p.Thr541=) | ClinVar |
X | g.31774054del | CA2499226632 | DMD | c.2295del (p.Asp766ThrfsTer10) c.69del (p.Asp24ThrfsTer10) n.1110del n.1032del n.941del c.7449del (p.Asp2484ThrfsTer10) c.3417del (p.Asp1140ThrfsTer10) c.438del (p.Asp147ThrfsTer10) c.537del (p.Asp180ThrfsTer10) c.7437del (p.Asp2480ThrfsTer10) c.206del (n.206del) c.7434del (p.Asp2479ThrfsTer10) c.7446del (p.Asp2483ThrfsTer10) c.7425del (p.Asp2476ThrfsTer10) c.7080del (p.Asp2361ThrfsTer10) c.3426del (p.Asp1143ThrfsTer10) c.7320del (p.Asp2441ThrfsTer10) c.7311del (p.Asp2438ThrfsTer10) c.7326del (p.Asp2443ThrfsTer10) c.1623del (p.Asp542ThrfsTer10) | ClinVar dbSNP |
X | g.31774054G>A | CA412658907 | DMD | c.2294C>T (p.Thr765Ile) c.68C>T (p.Thr23Ile) n.1109C>T n.1031C>T n.940C>T c.7448C>T (p.Thr2483Ile) c.3416C>T (p.Thr1139Ile) c.437C>T (p.Thr146Ile) c.536C>T (p.Thr179Ile) c.7436C>T (p.Thr2479Ile) c.205C>T (n.205C>T) c.7433C>T (p.Thr2478Ile) c.7445C>T (p.Thr2482Ile) c.7424C>T (p.Thr2475Ile) c.7079C>T (p.Thr2360Ile) c.3425C>T (p.Thr1142Ile) c.7319C>T (p.Thr2440Ile) c.7310C>T (p.Thr2437Ile) c.7325C>T (p.Thr2442Ile) c.1622C>T (p.Thr541Ile) | dbSNP |
X | g.31774054G>C | CA412658908 | DMD | c.2294C>G (p.Thr765Ser) c.68C>G (p.Thr23Ser) n.1109C>G n.1031C>G n.940C>G c.7448C>G (p.Thr2483Ser) c.3416C>G (p.Thr1139Ser) c.437C>G (p.Thr146Ser) c.536C>G (p.Thr179Ser) c.7436C>G (p.Thr2479Ser) c.205C>G (n.205C>G) c.7433C>G (p.Thr2478Ser) c.7445C>G (p.Thr2482Ser) c.7424C>G (p.Thr2475Ser) c.7079C>G (p.Thr2360Ser) c.3425C>G (p.Thr1142Ser) c.7319C>G (p.Thr2440Ser) c.7310C>G (p.Thr2437Ser) c.7325C>G (p.Thr2442Ser) c.1622C>G (p.Thr541Ser) | |
X | g.31774054G= | CA2422548640 | DMD | c.2294C= (p.Thr765=) c.68C= (p.Thr23=) n.1109C= n.1031C= n.940C= c.7448C= (p.Thr2483=) c.3416C= (p.Thr1139=) c.437C= (p.Thr146=) c.536C= (p.Thr179=) c.7436C= (p.Thr2479=) c.205C= (n.205C=) c.7433C= (p.Thr2478=) c.7445C= (p.Thr2482=) c.7424C= (p.Thr2475=) c.7079C= (p.Thr2360=) c.3425C= (p.Thr1142=) c.7319C= (p.Thr2440=) c.7310C= (p.Thr2437=) c.7325C= (p.Thr2442=) c.1622C= (p.Thr541=) | |
X | g.31774054G>T | CA10378276 | DMD | c.2294C>A (p.Thr765Asn) c.68C>A (p.Thr23Asn) n.1109C>A n.1031C>A n.940C>A c.7448C>A (p.Thr2483Asn) c.3416C>A (p.Thr1139Asn) c.437C>A (p.Thr146Asn) c.536C>A (p.Thr179Asn) c.7436C>A (p.Thr2479Asn) c.205C>A (n.205C>A) c.7433C>A (p.Thr2478Asn) c.7445C>A (p.Thr2482Asn) c.7424C>A (p.Thr2475Asn) c.7079C>A (p.Thr2360Asn) c.3425C>A (p.Thr1142Asn) c.7319C>A (p.Thr2440Asn) c.7310C>A (p.Thr2437Asn) c.7325C>A (p.Thr2442Asn) c.1622C>A (p.Thr541Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774055T>A | CA412658911 | DMD | c.2293A>T (p.Thr765Ser) c.67A>T (p.Thr23Ser) n.1108A>T n.1030A>T n.939A>T c.7447A>T (p.Thr2483Ser) c.3415A>T (p.Thr1139Ser) c.436A>T (p.Thr146Ser) c.535A>T (p.Thr179Ser) c.7435A>T (p.Thr2479Ser) c.204A>T (n.204A>T) c.7432A>T (p.Thr2478Ser) c.7444A>T (p.Thr2482Ser) c.7423A>T (p.Thr2475Ser) c.7078A>T (p.Thr2360Ser) c.3424A>T (p.Thr1142Ser) c.7318A>T (p.Thr2440Ser) c.7309A>T (p.Thr2437Ser) c.7324A>T (p.Thr2442Ser) c.1621A>T (p.Thr541Ser) | |
X | g.31774055T>C | CA412658910 | DMD | c.2293A>G (p.Thr765Ala) c.67A>G (p.Thr23Ala) n.1108A>G n.1030A>G n.939A>G c.7447A>G (p.Thr2483Ala) c.3415A>G (p.Thr1139Ala) c.436A>G (p.Thr146Ala) c.535A>G (p.Thr179Ala) c.7435A>G (p.Thr2479Ala) c.204A>G (n.204A>G) c.7432A>G (p.Thr2478Ala) c.7444A>G (p.Thr2482Ala) c.7423A>G (p.Thr2475Ala) c.7078A>G (p.Thr2360Ala) c.3424A>G (p.Thr1142Ala) c.7318A>G (p.Thr2440Ala) c.7309A>G (p.Thr2437Ala) c.7324A>G (p.Thr2442Ala) c.1621A>G (p.Thr541Ala) | |
X | g.31774055T>G | CA412658909 | DMD | c.2293A>C (p.Thr765Pro) c.67A>C (p.Thr23Pro) n.1108A>C n.1030A>C n.939A>C c.7447A>C (p.Thr2483Pro) c.3415A>C (p.Thr1139Pro) c.436A>C (p.Thr146Pro) c.535A>C (p.Thr179Pro) c.7435A>C (p.Thr2479Pro) c.204A>C (n.204A>C) c.7432A>C (p.Thr2478Pro) c.7444A>C (p.Thr2482Pro) c.7423A>C (p.Thr2475Pro) c.7078A>C (p.Thr2360Pro) c.3424A>C (p.Thr1142Pro) c.7318A>C (p.Thr2440Pro) c.7309A>C (p.Thr2437Pro) c.7324A>C (p.Thr2442Pro) c.1621A>C (p.Thr541Pro) | |
X | g.31774056A>C | CA515859341 | DMD | c.2292T>G (p.Leu764=) c.66T>G (p.Leu22=) n.1107T>G n.1029T>G n.938T>G c.7446T>G (p.Leu2482=) c.3414T>G (p.Leu1138=) c.435T>G (p.Leu145=) c.534T>G (p.Leu178=) c.7434T>G (p.Leu2478=) c.203T>G (n.203T>G) c.7431T>G (p.Leu2477=) c.7443T>G (p.Leu2481=) c.7422T>G (p.Leu2474=) c.7077T>G (p.Leu2359=) c.3423T>G (p.Leu1141=) c.7317T>G (p.Leu2439=) c.7308T>G (p.Leu2436=) c.7323T>G (p.Leu2441=) c.1620T>G (p.Leu540=) | |
X | g.31774056A>G | CA515859343 | DMD | c.2292T>C (p.Leu764=) c.66T>C (p.Leu22=) n.1107T>C n.1029T>C n.938T>C c.7446T>C (p.Leu2482=) c.3414T>C (p.Leu1138=) c.435T>C (p.Leu145=) c.534T>C (p.Leu178=) c.7434T>C (p.Leu2478=) c.203T>C (n.203T>C) c.7431T>C (p.Leu2477=) c.7443T>C (p.Leu2481=) c.7422T>C (p.Leu2474=) c.7077T>C (p.Leu2359=) c.3423T>C (p.Leu1141=) c.7317T>C (p.Leu2439=) c.7308T>C (p.Leu2436=) c.7323T>C (p.Leu2441=) c.1620T>C (p.Leu540=) | |
X | g.31774056A>T | CA515859342 | DMD | c.2292T>A (p.Leu764=) c.66T>A (p.Leu22=) n.1107T>A n.1029T>A n.938T>A c.7446T>A (p.Leu2482=) c.3414T>A (p.Leu1138=) c.435T>A (p.Leu145=) c.534T>A (p.Leu178=) c.7434T>A (p.Leu2478=) c.203T>A (n.203T>A) c.7431T>A (p.Leu2477=) c.7443T>A (p.Leu2481=) c.7422T>A (p.Leu2474=) c.7077T>A (p.Leu2359=) c.3423T>A (p.Leu1141=) c.7317T>A (p.Leu2439=) c.7308T>A (p.Leu2436=) c.7323T>A (p.Leu2441=) c.1620T>A (p.Leu540=) | |
X | g.31774057A>C | CA412658912 | DMD | c.2291T>G (p.Leu764Arg) c.65T>G (p.Leu22Arg) n.1106T>G n.1028T>G n.937T>G c.7445T>G (p.Leu2482Arg) c.3413T>G (p.Leu1138Arg) c.434T>G (p.Leu145Arg) c.533T>G (p.Leu178Arg) c.7433T>G (p.Leu2478Arg) c.202T>G (n.202T>G) c.7430T>G (p.Leu2477Arg) c.7442T>G (p.Leu2481Arg) c.7421T>G (p.Leu2474Arg) c.7076T>G (p.Leu2359Arg) c.3422T>G (p.Leu1141Arg) c.7316T>G (p.Leu2439Arg) c.7307T>G (p.Leu2436Arg) c.7322T>G (p.Leu2441Arg) c.1619T>G (p.Leu540Arg) | |
X | g.31774057A>G | CA412658913 | DMD | c.2291T>C (p.Leu764Pro) c.65T>C (p.Leu22Pro) n.1106T>C n.1028T>C n.937T>C c.7445T>C (p.Leu2482Pro) c.3413T>C (p.Leu1138Pro) c.434T>C (p.Leu145Pro) c.533T>C (p.Leu178Pro) c.7433T>C (p.Leu2478Pro) c.202T>C (n.202T>C) c.7430T>C (p.Leu2477Pro) c.7442T>C (p.Leu2481Pro) c.7421T>C (p.Leu2474Pro) c.7076T>C (p.Leu2359Pro) c.3422T>C (p.Leu1141Pro) c.7316T>C (p.Leu2439Pro) c.7307T>C (p.Leu2436Pro) c.7322T>C (p.Leu2441Pro) c.1619T>C (p.Leu540Pro) | |
X | g.31774057A>T | CA412658914 | DMD | c.2291T>A (p.Leu764His) c.65T>A (p.Leu22His) n.1106T>A n.1028T>A n.937T>A c.7445T>A (p.Leu2482His) c.3413T>A (p.Leu1138His) c.434T>A (p.Leu145His) c.533T>A (p.Leu178His) c.7433T>A (p.Leu2478His) c.202T>A (n.202T>A) c.7430T>A (p.Leu2477His) c.7442T>A (p.Leu2481His) c.7421T>A (p.Leu2474His) c.7076T>A (p.Leu2359His) c.3422T>A (p.Leu1141His) c.7316T>A (p.Leu2439His) c.7307T>A (p.Leu2436His) c.7322T>A (p.Leu2441His) c.1619T>A (p.Leu540His) | |
X | g.31774057_31774058delinsAG | CA2422548641 | DMD | c.2290_2291delinsCT (p.Leu764=) c.64_65delinsCT (p.Leu22=) n.1105_1106delinsCT n.1027_1028delinsCT n.936_937delinsCT c.7444_7445delinsCT (p.Leu2482=) c.3412_3413delinsCT (p.Leu1138=) c.433_434delinsCT (p.Leu145=) c.532_533delinsCT (p.Leu178=) c.7432_7433delinsCT (p.Leu2478=) c.201_202delinsCT (n.201_202delinsCT) c.7429_7430delinsCT (p.Leu2477=) c.7441_7442delinsCT (p.Leu2481=) c.7420_7421delinsCT (p.Leu2474=) c.7075_7076delinsCT (p.Leu2359=) c.3421_3422delinsCT (p.Leu1141=) c.7315_7316delinsCT (p.Leu2439=) c.7306_7307delinsCT (p.Leu2436=) c.7321_7322delinsCT (p.Leu2441=) c.1618_1619delinsCT (p.Leu540=) | |
X | g.31774058del | CA275314 | DMD | c.2290del (p.Thr765ProfsTer11) c.64del (p.Thr23ProfsTer11) n.1105del n.1027del n.936del c.7444del (p.Thr2483ProfsTer11) c.3412del (p.Thr1139ProfsTer11) c.433del (p.Thr146ProfsTer11) c.532del (p.Thr179ProfsTer11) c.7432del (p.Thr2479ProfsTer11) c.201del (n.201del) c.7429del (p.Thr2478ProfsTer11) c.7441del (p.Thr2482ProfsTer11) c.7420del (p.Thr2475ProfsTer11) c.7075del (p.Thr2360ProfsTer11) c.3421del (p.Thr1142ProfsTer11) c.7315del (p.Thr2440ProfsTer11) c.7306del (p.Thr2437ProfsTer11) c.7321del (p.Thr2442ProfsTer11) c.1618del (p.Thr541ProfsTer11) | ClinVar dbSNP |
X | g.31774058G>A | CA412658915 | DMD | c.2290C>T (p.Leu764Phe) c.64C>T (p.Leu22Phe) n.1105C>T n.1027C>T n.936C>T c.7444C>T (p.Leu2482Phe) c.3412C>T (p.Leu1138Phe) c.433C>T (p.Leu145Phe) c.532C>T (p.Leu178Phe) c.7432C>T (p.Leu2478Phe) c.201C>T (n.201C>T) c.7429C>T (p.Leu2477Phe) c.7441C>T (p.Leu2481Phe) c.7420C>T (p.Leu2474Phe) c.7075C>T (p.Leu2359Phe) c.3421C>T (p.Leu1141Phe) c.7315C>T (p.Leu2439Phe) c.7306C>T (p.Leu2436Phe) c.7321C>T (p.Leu2441Phe) c.1618C>T (p.Leu540Phe) | |
X | g.31774058G>C | CA412658916 | DMD | c.2290C>G (p.Leu764Val) c.64C>G (p.Leu22Val) n.1105C>G n.1027C>G n.936C>G c.7444C>G (p.Leu2482Val) c.3412C>G (p.Leu1138Val) c.433C>G (p.Leu145Val) c.532C>G (p.Leu178Val) c.7432C>G (p.Leu2478Val) c.201C>G (n.201C>G) c.7429C>G (p.Leu2477Val) c.7441C>G (p.Leu2481Val) c.7420C>G (p.Leu2474Val) c.7075C>G (p.Leu2359Val) c.3421C>G (p.Leu1141Val) c.7315C>G (p.Leu2439Val) c.7306C>G (p.Leu2436Val) c.7321C>G (p.Leu2441Val) c.1618C>G (p.Leu540Val) | |
X | g.31774058G>T | CA412658917 | DMD | c.2290C>A (p.Leu764Ile) c.64C>A (p.Leu22Ile) n.1105C>A n.1027C>A n.936C>A c.7444C>A (p.Leu2482Ile) c.3412C>A (p.Leu1138Ile) c.433C>A (p.Leu145Ile) c.532C>A (p.Leu178Ile) c.7432C>A (p.Leu2478Ile) c.201C>A (n.201C>A) c.7429C>A (p.Leu2477Ile) c.7441C>A (p.Leu2481Ile) c.7420C>A (p.Leu2474Ile) c.7075C>A (p.Leu2359Ile) c.3421C>A (p.Leu1141Ile) c.7315C>A (p.Leu2439Ile) c.7306C>A (p.Leu2436Ile) c.7321C>A (p.Leu2441Ile) c.1618C>A (p.Leu540Ile) | |
X | g.31774059T>A | CA412658918 | DMD | c.2289A>T (p.Glu763Asp) c.63A>T (p.Glu21Asp) n.1104A>T n.1026A>T n.935A>T c.7443A>T (p.Glu2481Asp) c.3411A>T (p.Glu1137Asp) c.432A>T (p.Glu144Asp) c.531A>T (p.Glu177Asp) c.7431A>T (p.Glu2477Asp) c.200A>T (n.200A>T) c.7428A>T (p.Glu2476Asp) c.7440A>T (p.Glu2480Asp) c.7419A>T (p.Glu2473Asp) c.7074A>T (p.Glu2358Asp) c.3420A>T (p.Glu1140Asp) c.7314A>T (p.Glu2438Asp) c.7305A>T (p.Glu2435Asp) c.7320A>T (p.Glu2440Asp) c.1617A>T (p.Glu539Asp) | |
X | g.31774059T>C | CA515859344 | DMD | c.2289A>G (p.Glu763=) c.63A>G (p.Glu21=) n.1104A>G n.1026A>G n.935A>G c.7443A>G (p.Glu2481=) c.3411A>G (p.Glu1137=) c.432A>G (p.Glu144=) c.531A>G (p.Glu177=) c.7431A>G (p.Glu2477=) c.200A>G (n.200A>G) c.7428A>G (p.Glu2476=) c.7440A>G (p.Glu2480=) c.7419A>G (p.Glu2473=) c.7074A>G (p.Glu2358=) c.3420A>G (p.Glu1140=) c.7314A>G (p.Glu2438=) c.7305A>G (p.Glu2435=) c.7320A>G (p.Glu2440=) c.1617A>G (p.Glu539=) | ClinVar |
X | g.31774059T>G | CA412658919 | DMD | c.2289A>C (p.Glu763Asp) c.63A>C (p.Glu21Asp) n.1104A>C n.1026A>C n.935A>C c.7443A>C (p.Glu2481Asp) c.3411A>C (p.Glu1137Asp) c.432A>C (p.Glu144Asp) c.531A>C (p.Glu177Asp) c.7431A>C (p.Glu2477Asp) c.200A>C (n.200A>C) c.7428A>C (p.Glu2476Asp) c.7440A>C (p.Glu2480Asp) c.7419A>C (p.Glu2473Asp) c.7074A>C (p.Glu2358Asp) c.3420A>C (p.Glu1140Asp) c.7314A>C (p.Glu2438Asp) c.7305A>C (p.Glu2435Asp) c.7320A>C (p.Glu2440Asp) c.1617A>C (p.Glu539Asp) | |
X | g.31774060T>A | CA412658920 | DMD | c.2288A>T (p.Glu763Val) c.62A>T (p.Glu21Val) n.1103A>T n.1025A>T n.934A>T c.7442A>T (p.Glu2481Val) c.3410A>T (p.Glu1137Val) c.431A>T (p.Glu144Val) c.530A>T (p.Glu177Val) c.7430A>T (p.Glu2477Val) c.199A>T (n.199A>T) c.7427A>T (p.Glu2476Val) c.7439A>T (p.Glu2480Val) c.7418A>T (p.Glu2473Val) c.7073A>T (p.Glu2358Val) c.3419A>T (p.Glu1140Val) c.7313A>T (p.Glu2438Val) c.7304A>T (p.Glu2435Val) c.7319A>T (p.Glu2440Val) c.1616A>T (p.Glu539Val) | |
X | g.31774060T>C | CA10378277 | DMD | c.2288A>G (p.Glu763Gly) c.62A>G (p.Glu21Gly) n.1103A>G n.1025A>G n.934A>G c.7442A>G (p.Glu2481Gly) c.3410A>G (p.Glu1137Gly) c.431A>G (p.Glu144Gly) c.530A>G (p.Glu177Gly) c.7430A>G (p.Glu2477Gly) c.199A>G (n.199A>G) c.7427A>G (p.Glu2476Gly) c.7439A>G (p.Glu2480Gly) c.7418A>G (p.Glu2473Gly) c.7073A>G (p.Glu2358Gly) c.3419A>G (p.Glu1140Gly) c.7313A>G (p.Glu2438Gly) c.7304A>G (p.Glu2435Gly) c.7319A>G (p.Glu2440Gly) c.1616A>G (p.Glu539Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31774060T>G | CA412658921 | DMD | c.2288A>C (p.Glu763Ala) c.62A>C (p.Glu21Ala) n.1103A>C n.1025A>C n.934A>C c.7442A>C (p.Glu2481Ala) c.3410A>C (p.Glu1137Ala) c.431A>C (p.Glu144Ala) c.530A>C (p.Glu177Ala) c.7430A>C (p.Glu2477Ala) c.199A>C (n.199A>C) c.7427A>C (p.Glu2476Ala) c.7439A>C (p.Glu2480Ala) c.7418A>C (p.Glu2473Ala) c.7073A>C (p.Glu2358Ala) c.3419A>C (p.Glu1140Ala) c.7313A>C (p.Glu2438Ala) c.7304A>C (p.Glu2435Ala) c.7319A>C (p.Glu2440Ala) c.1616A>C (p.Glu539Ala) | |
X | g.31774060T= | CA2422548642 | DMD | c.2288A= (p.Glu763=) c.62A= (p.Glu21=) n.1103A= n.1025A= n.934A= c.7442A= (p.Glu2481=) c.3410A= (p.Glu1137=) c.431A= (p.Glu144=) c.530A= (p.Glu177=) c.7430A= (p.Glu2477=) c.199A= (n.199A=) c.7427A= (p.Glu2476=) c.7439A= (p.Glu2480=) c.7418A= (p.Glu2473=) c.7073A= (p.Glu2358=) c.3419A= (p.Glu1140=) c.7313A= (p.Glu2438=) c.7304A= (p.Glu2435=) c.7319A= (p.Glu2440=) c.1616A= (p.Glu539=) | |
X | g.31774061del | CA2695232444 | DMD | c.2287del (p.Glu763AsnfsTer13) c.61del (p.Glu21AsnfsTer13) n.1102del n.1024del n.933del c.7441del (p.Glu2481AsnfsTer13) c.3409del (p.Glu1137AsnfsTer13) c.430del (p.Glu144AsnfsTer13) c.529del (p.Glu177AsnfsTer13) c.7429del (p.Glu2477AsnfsTer13) c.198del (n.198del) c.7426del (p.Glu2476AsnfsTer13) c.7438del (p.Glu2480AsnfsTer13) c.7417del (p.Glu2473AsnfsTer13) c.7072del (p.Glu2358AsnfsTer13) c.3418del (p.Glu1140AsnfsTer13) c.7312del (p.Glu2438AsnfsTer13) c.7303del (p.Glu2435AsnfsTer13) c.7318del (p.Glu2440AsnfsTer13) c.1615del (p.Glu539AsnfsTer13) | |
X | g.31774061C>A | CA412658924 | DMD | c.2287G>T (p.Glu763Ter) c.61G>T (p.Glu21Ter) n.1102G>T n.1024G>T n.933G>T c.7441G>T (p.Glu2481Ter) c.3409G>T (p.Glu1137Ter) c.430G>T (p.Glu144Ter) c.529G>T (p.Glu177Ter) c.7429G>T (p.Glu2477Ter) c.198G>T (n.198G>T) c.7426G>T (p.Glu2476Ter) c.7438G>T (p.Glu2480Ter) c.7417G>T (p.Glu2473Ter) c.7072G>T (p.Glu2358Ter) c.3418G>T (p.Glu1140Ter) c.7312G>T (p.Glu2438Ter) c.7303G>T (p.Glu2435Ter) c.7318G>T (p.Glu2440Ter) c.1615G>T (p.Glu539Ter) | |
X | g.31774061C>G | CA412658922 | DMD | c.2287G>C (p.Glu763Gln) c.61G>C (p.Glu21Gln) n.1102G>C n.1024G>C n.933G>C c.7441G>C (p.Glu2481Gln) c.3409G>C (p.Glu1137Gln) c.430G>C (p.Glu144Gln) c.529G>C (p.Glu177Gln) c.7429G>C (p.Glu2477Gln) c.198G>C (n.198G>C) c.7426G>C (p.Glu2476Gln) c.7438G>C (p.Glu2480Gln) c.7417G>C (p.Glu2473Gln) c.7072G>C (p.Glu2358Gln) c.3418G>C (p.Glu1140Gln) c.7312G>C (p.Glu2438Gln) c.7303G>C (p.Glu2435Gln) c.7318G>C (p.Glu2440Gln) c.1615G>C (p.Glu539Gln) | |
X | g.31774061C>T | CA412658923 | DMD | c.2287G>A (p.Glu763Lys) c.61G>A (p.Glu21Lys) n.1102G>A n.1024G>A n.933G>A c.7441G>A (p.Glu2481Lys) c.3409G>A (p.Glu1137Lys) c.430G>A (p.Glu144Lys) c.529G>A (p.Glu177Lys) c.7429G>A (p.Glu2477Lys) c.198G>A (n.198G>A) c.7426G>A (p.Glu2476Lys) c.7438G>A (p.Glu2480Lys) c.7417G>A (p.Glu2473Lys) c.7072G>A (p.Glu2358Lys) c.3418G>A (p.Glu1140Lys) c.7312G>A (p.Glu2438Lys) c.7303G>A (p.Glu2435Lys) c.7318G>A (p.Glu2440Lys) c.1615G>A (p.Glu539Lys) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774062T>A | CA515859345 | DMD | c.2286A>T (p.Thr762=) c.60A>T (p.Thr20=) n.1101A>T n.1023A>T n.932A>T c.7440A>T (p.Thr2480=) c.3408A>T (p.Thr1136=) c.429A>T (p.Thr143=) c.528A>T (p.Thr176=) c.7428A>T (p.Thr2476=) c.197A>T (n.197A>T) c.7425A>T (p.Thr2475=) c.7437A>T (p.Thr2479=) c.7416A>T (p.Thr2472=) c.7071A>T (p.Thr2357=) c.3417A>T (p.Thr1139=) c.7311A>T (p.Thr2437=) c.7302A>T (p.Thr2434=) c.7317A>T (p.Thr2439=) c.1614A>T (p.Thr538=) | |
X | g.31774062T>C | CA515859347 | DMD | c.2286A>G (p.Thr762=) c.60A>G (p.Thr20=) n.1101A>G n.1023A>G n.932A>G c.7440A>G (p.Thr2480=) c.3408A>G (p.Thr1136=) c.429A>G (p.Thr143=) c.528A>G (p.Thr176=) c.7428A>G (p.Thr2476=) c.197A>G (n.197A>G) c.7425A>G (p.Thr2475=) c.7437A>G (p.Thr2479=) c.7416A>G (p.Thr2472=) c.7071A>G (p.Thr2357=) c.3417A>G (p.Thr1139=) c.7311A>G (p.Thr2437=) c.7302A>G (p.Thr2434=) c.7317A>G (p.Thr2439=) c.1614A>G (p.Thr538=) | ClinVar dbSNP gnomAD v4 |
X | g.31774062T>G | CA515859346 | DMD | c.2286A>C (p.Thr762=) c.60A>C (p.Thr20=) n.1101A>C n.1023A>C n.932A>C c.7440A>C (p.Thr2480=) c.3408A>C (p.Thr1136=) c.429A>C (p.Thr143=) c.528A>C (p.Thr176=) c.7428A>C (p.Thr2476=) c.197A>C (n.197A>C) c.7425A>C (p.Thr2475=) c.7437A>C (p.Thr2479=) c.7416A>C (p.Thr2472=) c.7071A>C (p.Thr2357=) c.3417A>C (p.Thr1139=) c.7311A>C (p.Thr2437=) c.7302A>C (p.Thr2434=) c.7317A>C (p.Thr2439=) c.1614A>C (p.Thr538=) | |
X | g.31774063G>A | CA412658925 | DMD | c.2285C>T (p.Thr762Ile) c.59C>T (p.Thr20Ile) n.1100C>T n.1022C>T n.931C>T c.7439C>T (p.Thr2480Ile) c.3407C>T (p.Thr1136Ile) c.428C>T (p.Thr143Ile) c.527C>T (p.Thr176Ile) c.7427C>T (p.Thr2476Ile) c.196C>T (n.196C>T) c.7424C>T (p.Thr2475Ile) c.7436C>T (p.Thr2479Ile) c.7415C>T (p.Thr2472Ile) c.7070C>T (p.Thr2357Ile) c.3416C>T (p.Thr1139Ile) c.7310C>T (p.Thr2437Ile) c.7301C>T (p.Thr2434Ile) c.7316C>T (p.Thr2439Ile) c.1613C>T (p.Thr538Ile) | |
X | g.31774063G>C | CA412658926 | DMD | c.2285C>G (p.Thr762Arg) c.59C>G (p.Thr20Arg) n.1100C>G n.1022C>G n.931C>G c.7439C>G (p.Thr2480Arg) c.3407C>G (p.Thr1136Arg) c.428C>G (p.Thr143Arg) c.527C>G (p.Thr176Arg) c.7427C>G (p.Thr2476Arg) c.196C>G (n.196C>G) c.7424C>G (p.Thr2475Arg) c.7436C>G (p.Thr2479Arg) c.7415C>G (p.Thr2472Arg) c.7070C>G (p.Thr2357Arg) c.3416C>G (p.Thr1139Arg) c.7310C>G (p.Thr2437Arg) c.7301C>G (p.Thr2434Arg) c.7316C>G (p.Thr2439Arg) c.1613C>G (p.Thr538Arg) | |
X | g.31774063G>T | CA412658927 | DMD | c.2285C>A (p.Thr762Lys) c.59C>A (p.Thr20Lys) n.1100C>A n.1022C>A n.931C>A c.7439C>A (p.Thr2480Lys) c.3407C>A (p.Thr1136Lys) c.428C>A (p.Thr143Lys) c.527C>A (p.Thr176Lys) c.7427C>A (p.Thr2476Lys) c.196C>A (n.196C>A) c.7424C>A (p.Thr2475Lys) c.7436C>A (p.Thr2479Lys) c.7415C>A (p.Thr2472Lys) c.7070C>A (p.Thr2357Lys) c.3416C>A (p.Thr1139Lys) c.7310C>A (p.Thr2437Lys) c.7301C>A (p.Thr2434Lys) c.7316C>A (p.Thr2439Lys) c.1613C>A (p.Thr538Lys) | |
X | g.31774064T>A | CA412658928 | DMD | c.2284A>T (p.Thr762Ser) c.58A>T (p.Thr20Ser) n.1099A>T n.1021A>T n.930A>T c.7438A>T (p.Thr2480Ser) c.3406A>T (p.Thr1136Ser) c.427A>T (p.Thr143Ser) c.526A>T (p.Thr176Ser) c.7426A>T (p.Thr2476Ser) c.195A>T (n.195A>T) c.7423A>T (p.Thr2475Ser) c.7435A>T (p.Thr2479Ser) c.7414A>T (p.Thr2472Ser) c.7069A>T (p.Thr2357Ser) c.3415A>T (p.Thr1139Ser) c.7309A>T (p.Thr2437Ser) c.7300A>T (p.Thr2434Ser) c.7315A>T (p.Thr2439Ser) c.1612A>T (p.Thr538Ser) | |
X | g.31774064T>C | CA412658929 | DMD | c.2284A>G (p.Thr762Ala) c.58A>G (p.Thr20Ala) n.1099A>G n.1021A>G n.930A>G c.7438A>G (p.Thr2480Ala) c.3406A>G (p.Thr1136Ala) c.427A>G (p.Thr143Ala) c.526A>G (p.Thr176Ala) c.7426A>G (p.Thr2476Ala) c.195A>G (n.195A>G) c.7423A>G (p.Thr2475Ala) c.7435A>G (p.Thr2479Ala) c.7414A>G (p.Thr2472Ala) c.7069A>G (p.Thr2357Ala) c.3415A>G (p.Thr1139Ala) c.7309A>G (p.Thr2437Ala) c.7300A>G (p.Thr2434Ala) c.7315A>G (p.Thr2439Ala) c.1612A>G (p.Thr538Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774064T>G | CA412658930 | DMD | c.2284A>C (p.Thr762Pro) c.58A>C (p.Thr20Pro) n.1099A>C n.1021A>C n.930A>C c.7438A>C (p.Thr2480Pro) c.3406A>C (p.Thr1136Pro) c.427A>C (p.Thr143Pro) c.526A>C (p.Thr176Pro) c.7426A>C (p.Thr2476Pro) c.195A>C (n.195A>C) c.7423A>C (p.Thr2475Pro) c.7435A>C (p.Thr2479Pro) c.7414A>C (p.Thr2472Pro) c.7069A>C (p.Thr2357Pro) c.3415A>C (p.Thr1139Pro) c.7309A>C (p.Thr2437Pro) c.7300A>C (p.Thr2434Pro) c.7315A>C (p.Thr2439Pro) c.1612A>C (p.Thr538Pro) | |
X | g.31774064T= | CA2422548643 | DMD | c.2284A= (p.Thr762=) c.58A= (p.Thr20=) n.1099A= n.1021A= n.930A= c.7438A= (p.Thr2480=) c.3406A= (p.Thr1136=) c.427A= (p.Thr143=) c.526A= (p.Thr176=) c.7426A= (p.Thr2476=) c.195A= (n.195A=) c.7423A= (p.Thr2475=) c.7435A= (p.Thr2479=) c.7414A= (p.Thr2472=) c.7069A= (p.Thr2357=) c.3415A= (p.Thr1139=) c.7309A= (p.Thr2437=) c.7300A= (p.Thr2434=) c.7315A= (p.Thr2439=) c.1612A= (p.Thr538=) | |
X | g.31774065C>A | CA412658931 | DMD | c.2283G>T (p.Trp761Cys) c.57G>T (p.Trp19Cys) n.1098G>T n.1020G>T n.929G>T c.7437G>T (p.Trp2479Cys) c.3405G>T (p.Trp1135Cys) c.426G>T (p.Trp142Cys) c.525G>T (p.Trp175Cys) c.7425G>T (p.Trp2475Cys) c.194G>T (n.194G>T) c.7422G>T (p.Trp2474Cys) c.7434G>T (p.Trp2478Cys) c.7413G>T (p.Trp2471Cys) c.7068G>T (p.Trp2356Cys) c.3414G>T (p.Trp1138Cys) c.7308G>T (p.Trp2436Cys) c.7299G>T (p.Trp2433Cys) c.7314G>T (p.Trp2438Cys) c.1611G>T (p.Trp537Cys) | |
X | g.31774065C>G | CA412658932 | DMD | c.2283G>C (p.Trp761Cys) c.57G>C (p.Trp19Cys) n.1098G>C n.1020G>C n.929G>C c.7437G>C (p.Trp2479Cys) c.3405G>C (p.Trp1135Cys) c.426G>C (p.Trp142Cys) c.525G>C (p.Trp175Cys) c.7425G>C (p.Trp2475Cys) c.194G>C (n.194G>C) c.7422G>C (p.Trp2474Cys) c.7434G>C (p.Trp2478Cys) c.7413G>C (p.Trp2471Cys) c.7068G>C (p.Trp2356Cys) c.3414G>C (p.Trp1138Cys) c.7308G>C (p.Trp2436Cys) c.7299G>C (p.Trp2433Cys) c.7314G>C (p.Trp2438Cys) c.1611G>C (p.Trp537Cys) | |
X | g.31774065C>T | CA412658933 | DMD | c.2283G>A (p.Trp761Ter) c.57G>A (p.Trp19Ter) n.1098G>A n.1020G>A n.929G>A c.7437G>A (p.Trp2479Ter) c.3405G>A (p.Trp1135Ter) c.426G>A (p.Trp142Ter) c.525G>A (p.Trp175Ter) c.7425G>A (p.Trp2475Ter) c.194G>A (n.194G>A) c.7422G>A (p.Trp2474Ter) c.7434G>A (p.Trp2478Ter) c.7413G>A (p.Trp2471Ter) c.7068G>A (p.Trp2356Ter) c.3414G>A (p.Trp1138Ter) c.7308G>A (p.Trp2436Ter) c.7299G>A (p.Trp2433Ter) c.7314G>A (p.Trp2438Ter) c.1611G>A (p.Trp537Ter) | ClinVar dbSNP |
X | g.31774066C>A | CA412658934 | DMD | c.2282G>T (p.Trp761Leu) c.56G>T (p.Trp19Leu) n.1097G>T n.1019G>T n.928G>T c.7436G>T (p.Trp2479Leu) c.3404G>T (p.Trp1135Leu) c.425G>T (p.Trp142Leu) c.524G>T (p.Trp175Leu) c.7424G>T (p.Trp2475Leu) c.193G>T (n.193G>T) c.7421G>T (p.Trp2474Leu) c.7433G>T (p.Trp2478Leu) c.7412G>T (p.Trp2471Leu) c.7067G>T (p.Trp2356Leu) c.3413G>T (p.Trp1138Leu) c.7307G>T (p.Trp2436Leu) c.7298G>T (p.Trp2433Leu) c.7313G>T (p.Trp2438Leu) c.1610G>T (p.Trp537Leu) | |
X | g.31774066C>G | CA412658935 | DMD | c.2282G>C (p.Trp761Ser) c.56G>C (p.Trp19Ser) n.1097G>C n.1019G>C n.928G>C c.7436G>C (p.Trp2479Ser) c.3404G>C (p.Trp1135Ser) c.425G>C (p.Trp142Ser) c.524G>C (p.Trp175Ser) c.7424G>C (p.Trp2475Ser) c.193G>C (n.193G>C) c.7421G>C (p.Trp2474Ser) c.7433G>C (p.Trp2478Ser) c.7412G>C (p.Trp2471Ser) c.7067G>C (p.Trp2356Ser) c.3413G>C (p.Trp1138Ser) c.7307G>C (p.Trp2436Ser) c.7298G>C (p.Trp2433Ser) c.7313G>C (p.Trp2438Ser) c.1610G>C (p.Trp537Ser) | |
X | g.31774066C>T | CA412658936 | DMD | c.2282G>A (p.Trp761Ter) c.56G>A (p.Trp19Ter) n.1097G>A n.1019G>A n.928G>A c.7436G>A (p.Trp2479Ter) c.3404G>A (p.Trp1135Ter) c.425G>A (p.Trp142Ter) c.524G>A (p.Trp175Ter) c.7424G>A (p.Trp2475Ter) c.193G>A (n.193G>A) c.7421G>A (p.Trp2474Ter) c.7433G>A (p.Trp2478Ter) c.7412G>A (p.Trp2471Ter) c.7067G>A (p.Trp2356Ter) c.3413G>A (p.Trp1138Ter) c.7307G>A (p.Trp2436Ter) c.7298G>A (p.Trp2433Ter) c.7313G>A (p.Trp2438Ter) c.1610G>A (p.Trp537Ter) | |
X | g.31774067A= | CA2422548644 | DMD | c.2281T= (p.Trp761=) c.55T= (p.Trp19=) n.1096T= n.1018T= n.927T= c.7435T= (p.Trp2479=) c.3403T= (p.Trp1135=) c.424T= (p.Trp142=) c.523T= (p.Trp175=) c.7423T= (p.Trp2475=) c.192T= (n.192T=) c.7420T= (p.Trp2474=) c.7432T= (p.Trp2478=) c.7411T= (p.Trp2471=) c.7066T= (p.Trp2356=) c.3412T= (p.Trp1138=) c.7306T= (p.Trp2436=) c.7297T= (p.Trp2433=) c.7312T= (p.Trp2438=) c.1609T= (p.Trp537=) | |
X | g.31774067A>C | CA412658939 | DMD | c.2281T>G (p.Trp761Gly) c.55T>G (p.Trp19Gly) n.1096T>G n.1018T>G n.927T>G c.7435T>G (p.Trp2479Gly) c.3403T>G (p.Trp1135Gly) c.424T>G (p.Trp142Gly) c.523T>G (p.Trp175Gly) c.7423T>G (p.Trp2475Gly) c.192T>G (n.192T>G) c.7420T>G (p.Trp2474Gly) c.7432T>G (p.Trp2478Gly) c.7411T>G (p.Trp2471Gly) c.7066T>G (p.Trp2356Gly) c.3412T>G (p.Trp1138Gly) c.7306T>G (p.Trp2436Gly) c.7297T>G (p.Trp2433Gly) c.7312T>G (p.Trp2438Gly) c.1609T>G (p.Trp537Gly) | |
X | g.31774067A>G | CA412658938 | DMD | c.2281T>C (p.Trp761Arg) c.55T>C (p.Trp19Arg) n.1096T>C n.1018T>C n.927T>C c.7435T>C (p.Trp2479Arg) c.3403T>C (p.Trp1135Arg) c.424T>C (p.Trp142Arg) c.523T>C (p.Trp175Arg) c.7423T>C (p.Trp2475Arg) c.192T>C (n.192T>C) c.7420T>C (p.Trp2474Arg) c.7432T>C (p.Trp2478Arg) c.7411T>C (p.Trp2471Arg) c.7066T>C (p.Trp2356Arg) c.3412T>C (p.Trp1138Arg) c.7306T>C (p.Trp2436Arg) c.7297T>C (p.Trp2433Arg) c.7312T>C (p.Trp2438Arg) c.1609T>C (p.Trp537Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.31774067A>T | CA412658937 | DMD | c.2281T>A (p.Trp761Arg) c.55T>A (p.Trp19Arg) n.1096T>A n.1018T>A n.927T>A c.7435T>A (p.Trp2479Arg) c.3403T>A (p.Trp1135Arg) c.424T>A (p.Trp142Arg) c.523T>A (p.Trp175Arg) c.7423T>A (p.Trp2475Arg) c.192T>A (n.192T>A) c.7420T>A (p.Trp2474Arg) c.7432T>A (p.Trp2478Arg) c.7411T>A (p.Trp2471Arg) c.7066T>A (p.Trp2356Arg) c.3412T>A (p.Trp1138Arg) c.7306T>A (p.Trp2436Arg) c.7297T>A (p.Trp2433Arg) c.7312T>A (p.Trp2438Arg) c.1609T>A (p.Trp537Arg) | |
X | g.31774068A>C | CA515859348 | DMD | c.2280T>G (p.Ala760=) c.54T>G (p.Ala18=) n.1095T>G n.1017T>G n.926T>G c.7434T>G (p.Ala2478=) c.3402T>G (p.Ala1134=) c.423T>G (p.Ala141=) c.522T>G (p.Ala174=) c.7422T>G (p.Ala2474=) c.191T>G (n.191T>G) c.7419T>G (p.Ala2473=) c.7431T>G (p.Ala2477=) c.7410T>G (p.Ala2470=) c.7065T>G (p.Ala2355=) c.3411T>G (p.Ala1137=) c.7305T>G (p.Ala2435=) c.7296T>G (p.Ala2432=) c.7311T>G (p.Ala2437=) c.1608T>G (p.Ala536=) | |
X | g.31774068A>G | CA515859349 | DMD | c.2280T>C (p.Ala760=) c.54T>C (p.Ala18=) n.1095T>C n.1017T>C n.926T>C c.7434T>C (p.Ala2478=) c.3402T>C (p.Ala1134=) c.423T>C (p.Ala141=) c.522T>C (p.Ala174=) c.7422T>C (p.Ala2474=) c.191T>C (n.191T>C) c.7419T>C (p.Ala2473=) c.7431T>C (p.Ala2477=) c.7410T>C (p.Ala2470=) c.7065T>C (p.Ala2355=) c.3411T>C (p.Ala1137=) c.7305T>C (p.Ala2435=) c.7296T>C (p.Ala2432=) c.7311T>C (p.Ala2437=) c.1608T>C (p.Ala536=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774068A>T | CA515859350 | DMD | c.2280T>A (p.Ala760=) c.54T>A (p.Ala18=) n.1095T>A n.1017T>A n.926T>A c.7434T>A (p.Ala2478=) c.3402T>A (p.Ala1134=) c.423T>A (p.Ala141=) c.522T>A (p.Ala174=) c.7422T>A (p.Ala2474=) c.191T>A (n.191T>A) c.7419T>A (p.Ala2473=) c.7431T>A (p.Ala2477=) c.7410T>A (p.Ala2470=) c.7065T>A (p.Ala2355=) c.3411T>A (p.Ala1137=) c.7305T>A (p.Ala2435=) c.7296T>A (p.Ala2432=) c.7311T>A (p.Ala2437=) c.1608T>A (p.Ala536=) | |
X | g.31774068_31774071delinsTG | CA2695232446 | DMD | c.2277_2280delinsCA (p.Ala760MetfsTer12) c.51_54delinsCA (p.Ala18MetfsTer12) n.1092_1095delinsCA n.1014_1017delinsCA n.923_926delinsCA c.7431_7434delinsCA (p.Ala2478MetfsTer12) c.3399_3402delinsCA (p.Ala1134MetfsTer12) c.420_423delinsCA (p.Ala141MetfsTer12) c.519_522delinsCA (p.Ala174MetfsTer12) c.7419_7422delinsCA (p.Ala2474MetfsTer12) c.188_191delinsCA (n.188_191delinsCA) c.7416_7419delinsCA (p.Ala2473MetfsTer12) c.7428_7431delinsCA (p.Ala2477MetfsTer12) c.7407_7410delinsCA (p.Ala2470MetfsTer12) c.7062_7065delinsCA (p.Ala2355MetfsTer12) c.3408_3411delinsCA (p.Ala1137MetfsTer12) c.7302_7305delinsCA (p.Ala2435MetfsTer12) c.7293_7296delinsCA (p.Ala2432MetfsTer12) c.7308_7311delinsCA (p.Ala2437MetfsTer12) c.1605_1608delinsCA (p.Ala536MetfsTer12) | |
X | g.31774069G>A | CA328470493 | DMD | c.2279C>T (p.Ala760Val) c.53C>T (p.Ala18Val) n.1094C>T n.1016C>T n.925C>T c.7433C>T (p.Ala2478Val) c.3401C>T (p.Ala1134Val) c.422C>T (p.Ala141Val) c.521C>T (p.Ala174Val) c.7421C>T (p.Ala2474Val) c.190C>T (n.190C>T) c.7418C>T (p.Ala2473Val) c.7430C>T (p.Ala2477Val) c.7409C>T (p.Ala2470Val) c.7064C>T (p.Ala2355Val) c.3410C>T (p.Ala1137Val) c.7304C>T (p.Ala2435Val) c.7295C>T (p.Ala2432Val) c.7310C>T (p.Ala2437Val) c.1607C>T (p.Ala536Val) | dbSNP gnomAD v4 |
X | g.31774069G>C | CA412658940 | DMD | c.2279C>G (p.Ala760Gly) c.53C>G (p.Ala18Gly) n.1094C>G n.1016C>G n.925C>G c.7433C>G (p.Ala2478Gly) c.3401C>G (p.Ala1134Gly) c.422C>G (p.Ala141Gly) c.521C>G (p.Ala174Gly) c.7421C>G (p.Ala2474Gly) c.190C>G (n.190C>G) c.7418C>G (p.Ala2473Gly) c.7430C>G (p.Ala2477Gly) c.7409C>G (p.Ala2470Gly) c.7064C>G (p.Ala2355Gly) c.3410C>G (p.Ala1137Gly) c.7304C>G (p.Ala2435Gly) c.7295C>G (p.Ala2432Gly) c.7310C>G (p.Ala2437Gly) c.1607C>G (p.Ala536Gly) | |
X | g.31774069G= | CA2422548645 | DMD | c.2279C= (p.Ala760=) c.53C= (p.Ala18=) n.1094C= n.1016C= n.925C= c.7433C= (p.Ala2478=) c.3401C= (p.Ala1134=) c.422C= (p.Ala141=) c.521C= (p.Ala174=) c.7421C= (p.Ala2474=) c.190C= (n.190C=) c.7418C= (p.Ala2473=) c.7430C= (p.Ala2477=) c.7409C= (p.Ala2470=) c.7064C= (p.Ala2355=) c.3410C= (p.Ala1137=) c.7304C= (p.Ala2435=) c.7295C= (p.Ala2432=) c.7310C= (p.Ala2437=) c.1607C= (p.Ala536=) | |
X | g.31774069G>T | CA412658941 | DMD | c.2279C>A (p.Ala760Asp) c.53C>A (p.Ala18Asp) n.1094C>A n.1016C>A n.925C>A c.7433C>A (p.Ala2478Asp) c.3401C>A (p.Ala1134Asp) c.422C>A (p.Ala141Asp) c.521C>A (p.Ala174Asp) c.7421C>A (p.Ala2474Asp) c.190C>A (n.190C>A) c.7418C>A (p.Ala2473Asp) c.7430C>A (p.Ala2477Asp) c.7409C>A (p.Ala2470Asp) c.7064C>A (p.Ala2355Asp) c.3410C>A (p.Ala1137Asp) c.7304C>A (p.Ala2435Asp) c.7295C>A (p.Ala2432Asp) c.7310C>A (p.Ala2437Asp) c.1607C>A (p.Ala536Asp) | |
X | g.31774070C>A | CA412658942 | DMD | c.2278G>T (p.Ala760Ser) c.52G>T (p.Ala18Ser) n.1093G>T n.1015G>T n.924G>T c.7432G>T (p.Ala2478Ser) c.3400G>T (p.Ala1134Ser) c.421G>T (p.Ala141Ser) c.520G>T (p.Ala174Ser) c.7420G>T (p.Ala2474Ser) c.189G>T (n.189G>T) c.7417G>T (p.Ala2473Ser) c.7429G>T (p.Ala2477Ser) c.7408G>T (p.Ala2470Ser) c.7063G>T (p.Ala2355Ser) c.3409G>T (p.Ala1137Ser) c.7303G>T (p.Ala2435Ser) c.7294G>T (p.Ala2432Ser) c.7309G>T (p.Ala2437Ser) c.1606G>T (p.Ala536Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31774070C= | CA2422548646 | DMD | c.2278G= (p.Ala760=) c.52G= (p.Ala18=) n.1093G= n.1015G= n.924G= c.7432G= (p.Ala2478=) c.3400G= (p.Ala1134=) c.421G= (p.Ala141=) c.520G= (p.Ala174=) c.7420G= (p.Ala2474=) c.189G= (n.189G=) c.7417G= (p.Ala2473=) c.7429G= (p.Ala2477=) c.7408G= (p.Ala2470=) c.7063G= (p.Ala2355=) c.3409G= (p.Ala1137=) c.7303G= (p.Ala2435=) c.7294G= (p.Ala2432=) c.7309G= (p.Ala2437=) c.1606G= (p.Ala536=) | |
X | g.31774070C>G | CA412658943 | DMD | c.2278G>C (p.Ala760Pro) c.52G>C (p.Ala18Pro) n.1093G>C n.1015G>C n.924G>C c.7432G>C (p.Ala2478Pro) c.3400G>C (p.Ala1134Pro) c.421G>C (p.Ala141Pro) c.520G>C (p.Ala174Pro) c.7420G>C (p.Ala2474Pro) c.189G>C (n.189G>C) c.7417G>C (p.Ala2473Pro) c.7429G>C (p.Ala2477Pro) c.7408G>C (p.Ala2470Pro) c.7063G>C (p.Ala2355Pro) c.3409G>C (p.Ala1137Pro) c.7303G>C (p.Ala2435Pro) c.7294G>C (p.Ala2432Pro) c.7309G>C (p.Ala2437Pro) c.1606G>C (p.Ala536Pro) | gnomAD v4 |
X | g.31774070C>T | CA412658944 | DMD | c.2278G>A (p.Ala760Thr) c.52G>A (p.Ala18Thr) n.1093G>A n.1015G>A n.924G>A c.7432G>A (p.Ala2478Thr) c.3400G>A (p.Ala1134Thr) c.421G>A (p.Ala141Thr) c.520G>A (p.Ala174Thr) c.7420G>A (p.Ala2474Thr) c.189G>A (n.189G>A) c.7417G>A (p.Ala2473Thr) c.7429G>A (p.Ala2477Thr) c.7408G>A (p.Ala2470Thr) c.7063G>A (p.Ala2355Thr) c.3409G>A (p.Ala1137Thr) c.7303G>A (p.Ala2435Thr) c.7294G>A (p.Ala2432Thr) c.7309G>A (p.Ala2437Thr) c.1606G>A (p.Ala536Thr) | gnomAD v4 |
X | g.31774071C>A | CA515859353 | DMD | c.2277G>T (p.Arg759=) c.51G>T (p.Arg17=) n.1092G>T n.1014G>T n.923G>T c.7431G>T (p.Arg2477=) c.3399G>T (p.Arg1133=) c.420G>T (p.Arg140=) c.519G>T (p.Arg173=) c.7419G>T (p.Arg2473=) c.188G>T (n.188G>T) c.7416G>T (p.Arg2472=) c.7428G>T (p.Arg2476=) c.7407G>T (p.Arg2469=) c.7062G>T (p.Arg2354=) c.3408G>T (p.Arg1136=) c.7302G>T (p.Arg2434=) c.7293G>T (p.Arg2431=) c.7308G>T (p.Arg2436=) c.1605G>T (p.Arg535=) | |
X | g.31774071C>G | CA515859352 | DMD | c.2277G>C (p.Arg759=) c.51G>C (p.Arg17=) n.1092G>C n.1014G>C n.923G>C c.7431G>C (p.Arg2477=) c.3399G>C (p.Arg1133=) c.420G>C (p.Arg140=) c.519G>C (p.Arg173=) c.7419G>C (p.Arg2473=) c.188G>C (n.188G>C) c.7416G>C (p.Arg2472=) c.7428G>C (p.Arg2476=) c.7407G>C (p.Arg2469=) c.7062G>C (p.Arg2354=) c.3408G>C (p.Arg1136=) c.7302G>C (p.Arg2434=) c.7293G>C (p.Arg2431=) c.7308G>C (p.Arg2436=) c.1605G>C (p.Arg535=) | |
X | g.31774071C>T | CA515859351 | DMD | c.2277G>A (p.Arg759=) c.51G>A (p.Arg17=) n.1092G>A n.1014G>A n.923G>A c.7431G>A (p.Arg2477=) c.3399G>A (p.Arg1133=) c.420G>A (p.Arg140=) c.519G>A (p.Arg173=) c.7419G>A (p.Arg2473=) c.188G>A (n.188G>A) c.7416G>A (p.Arg2472=) c.7428G>A (p.Arg2476=) c.7407G>A (p.Arg2469=) c.7062G>A (p.Arg2354=) c.3408G>A (p.Arg1136=) c.7302G>A (p.Arg2434=) c.7293G>A (p.Arg2431=) c.7308G>A (p.Arg2436=) c.1605G>A (p.Arg535=) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774072C>A | CA412658945 | DMD | c.2276G>T (p.Arg759Leu) c.50G>T (p.Arg17Leu) n.1091G>T n.1013G>T n.922G>T c.7430G>T (p.Arg2477Leu) c.3398G>T (p.Arg1133Leu) c.419G>T (p.Arg140Leu) c.518G>T (p.Arg173Leu) c.7418G>T (p.Arg2473Leu) c.187G>T (n.187G>T) c.7415G>T (p.Arg2472Leu) c.7427G>T (p.Arg2476Leu) c.7406G>T (p.Arg2469Leu) c.7061G>T (p.Arg2354Leu) c.3407G>T (p.Arg1136Leu) c.7301G>T (p.Arg2434Leu) c.7292G>T (p.Arg2431Leu) c.7307G>T (p.Arg2436Leu) c.1604G>T (p.Arg535Leu) | |
X | g.31774072C= | CA2422548647 | DMD | c.2276G= (p.Arg759=) c.50G= (p.Arg17=) n.1091G= n.1013G= n.922G= c.7430G= (p.Arg2477=) c.3398G= (p.Arg1133=) c.419G= (p.Arg140=) c.518G= (p.Arg173=) c.7418G= (p.Arg2473=) c.187G= (n.187G=) c.7415G= (p.Arg2472=) c.7427G= (p.Arg2476=) c.7406G= (p.Arg2469=) c.7061G= (p.Arg2354=) c.3407G= (p.Arg1136=) c.7301G= (p.Arg2434=) c.7292G= (p.Arg2431=) c.7307G= (p.Arg2436=) c.1604G= (p.Arg535=) | |
X | g.31774072C>G | CA412658946 | DMD | c.2276G>C (p.Arg759Pro) c.50G>C (p.Arg17Pro) n.1091G>C n.1013G>C n.922G>C c.7430G>C (p.Arg2477Pro) c.3398G>C (p.Arg1133Pro) c.419G>C (p.Arg140Pro) c.518G>C (p.Arg173Pro) c.7418G>C (p.Arg2473Pro) c.187G>C (n.187G>C) c.7415G>C (p.Arg2472Pro) c.7427G>C (p.Arg2476Pro) c.7406G>C (p.Arg2469Pro) c.7061G>C (p.Arg2354Pro) c.3407G>C (p.Arg1136Pro) c.7301G>C (p.Arg2434Pro) c.7292G>C (p.Arg2431Pro) c.7307G>C (p.Arg2436Pro) c.1604G>C (p.Arg535Pro) | |
X | g.31774072C>T | CA10378278 | DMD | c.2276G>A (p.Arg759Gln) c.50G>A (p.Arg17Gln) n.1091G>A n.1013G>A n.922G>A c.7430G>A (p.Arg2477Gln) c.3398G>A (p.Arg1133Gln) c.419G>A (p.Arg140Gln) c.518G>A (p.Arg173Gln) c.7418G>A (p.Arg2473Gln) c.187G>A (n.187G>A) c.7415G>A (p.Arg2472Gln) c.7427G>A (p.Arg2476Gln) c.7406G>A (p.Arg2469Gln) c.7061G>A (p.Arg2354Gln) c.3407G>A (p.Arg1136Gln) c.7301G>A (p.Arg2434Gln) c.7292G>A (p.Arg2431Gln) c.7307G>A (p.Arg2436Gln) c.1604G>A (p.Arg535Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774073G>A | CA10378279 | DMD | c.2275C>T (p.Arg759Trp) c.49C>T (p.Arg17Trp) n.1090C>T n.1012C>T n.921C>T c.7429C>T (p.Arg2477Trp) c.3397C>T (p.Arg1133Trp) c.418C>T (p.Arg140Trp) c.517C>T (p.Arg173Trp) c.7417C>T (p.Arg2473Trp) c.186C>T (n.186C>T) c.7414C>T (p.Arg2472Trp) c.7426C>T (p.Arg2476Trp) c.7405C>T (p.Arg2469Trp) c.7060C>T (p.Arg2354Trp) c.3406C>T (p.Arg1136Trp) c.7300C>T (p.Arg2434Trp) c.7291C>T (p.Arg2431Trp) c.7306C>T (p.Arg2436Trp) c.1603C>T (p.Arg535Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774073G>C | CA412658947 | DMD | c.2275C>G (p.Arg759Gly) c.49C>G (p.Arg17Gly) n.1090C>G n.1012C>G n.921C>G c.7429C>G (p.Arg2477Gly) c.3397C>G (p.Arg1133Gly) c.418C>G (p.Arg140Gly) c.517C>G (p.Arg173Gly) c.7417C>G (p.Arg2473Gly) c.186C>G (n.186C>G) c.7414C>G (p.Arg2472Gly) c.7426C>G (p.Arg2476Gly) c.7405C>G (p.Arg2469Gly) c.7060C>G (p.Arg2354Gly) c.3406C>G (p.Arg1136Gly) c.7300C>G (p.Arg2434Gly) c.7291C>G (p.Arg2431Gly) c.7306C>G (p.Arg2436Gly) c.1603C>G (p.Arg535Gly) | |
X | g.31774073G= | CA2422548648 | DMD | c.2275C= (p.Arg759=) c.49C= (p.Arg17=) n.1090C= n.1012C= n.921C= c.7429C= (p.Arg2477=) c.3397C= (p.Arg1133=) c.418C= (p.Arg140=) c.517C= (p.Arg173=) c.7417C= (p.Arg2473=) c.186C= (n.186C=) c.7414C= (p.Arg2472=) c.7426C= (p.Arg2476=) c.7405C= (p.Arg2469=) c.7060C= (p.Arg2354=) c.3406C= (p.Arg1136=) c.7300C= (p.Arg2434=) c.7291C= (p.Arg2431=) c.7306C= (p.Arg2436=) c.1603C= (p.Arg535=) | |
X | g.31774073G>T | CA515859354 | DMD | c.2275C>A (p.Arg759=) c.49C>A (p.Arg17=) n.1090C>A n.1012C>A n.921C>A c.7429C>A (p.Arg2477=) c.3397C>A (p.Arg1133=) c.418C>A (p.Arg140=) c.517C>A (p.Arg173=) c.7417C>A (p.Arg2473=) c.186C>A (n.186C>A) c.7414C>A (p.Arg2472=) c.7426C>A (p.Arg2476=) c.7405C>A (p.Arg2469=) c.7060C>A (p.Arg2354=) c.3406C>A (p.Arg1136=) c.7300C>A (p.Arg2434=) c.7291C>A (p.Arg2431=) c.7306C>A (p.Arg2436=) c.1603C>A (p.Arg535=) | |
X | g.31774074G>A | CA515859355 | DMD | c.2274C>T (p.Asn758=) c.48C>T (p.Asn16=) n.1089C>T n.1011C>T n.920C>T c.7428C>T (p.Asn2476=) c.3396C>T (p.Asn1132=) c.417C>T (p.Asn139=) c.516C>T (p.Asn172=) c.7416C>T (p.Asn2472=) c.185C>T (n.185C>T) c.7413C>T (p.Asn2471=) c.7425C>T (p.Asn2475=) c.7404C>T (p.Asn2468=) c.7059C>T (p.Asn2353=) c.3405C>T (p.Asn1135=) c.7299C>T (p.Asn2433=) c.7290C>T (p.Asn2430=) c.7305C>T (p.Asn2435=) c.1602C>T (p.Asn534=) | |
X | g.31774074G>C | CA412658948 | DMD | c.2274C>G (p.Asn758Lys) c.48C>G (p.Asn16Lys) n.1089C>G n.1011C>G n.920C>G c.7428C>G (p.Asn2476Lys) c.3396C>G (p.Asn1132Lys) c.417C>G (p.Asn139Lys) c.516C>G (p.Asn172Lys) c.7416C>G (p.Asn2472Lys) c.185C>G (n.185C>G) c.7413C>G (p.Asn2471Lys) c.7425C>G (p.Asn2475Lys) c.7404C>G (p.Asn2468Lys) c.7059C>G (p.Asn2353Lys) c.3405C>G (p.Asn1135Lys) c.7299C>G (p.Asn2433Lys) c.7290C>G (p.Asn2430Lys) c.7305C>G (p.Asn2435Lys) c.1602C>G (p.Asn534Lys) | gnomAD v4 |
X | g.31774074G>T | CA412658949 | DMD | c.2274C>A (p.Asn758Lys) c.48C>A (p.Asn16Lys) n.1089C>A n.1011C>A n.920C>A c.7428C>A (p.Asn2476Lys) c.3396C>A (p.Asn1132Lys) c.417C>A (p.Asn139Lys) c.516C>A (p.Asn172Lys) c.7416C>A (p.Asn2472Lys) c.185C>A (n.185C>A) c.7413C>A (p.Asn2471Lys) c.7425C>A (p.Asn2475Lys) c.7404C>A (p.Asn2468Lys) c.7059C>A (p.Asn2353Lys) c.3405C>A (p.Asn1135Lys) c.7299C>A (p.Asn2433Lys) c.7290C>A (p.Asn2430Lys) c.7305C>A (p.Asn2435Lys) c.1602C>A (p.Asn534Lys) | |
X | g.31774075T>A | CA412658950 | DMD | c.2273A>T (p.Asn758Ile) c.47A>T (p.Asn16Ile) n.1088A>T n.1010A>T n.919A>T c.7427A>T (p.Asn2476Ile) c.3395A>T (p.Asn1132Ile) c.416A>T (p.Asn139Ile) c.515A>T (p.Asn172Ile) c.7415A>T (p.Asn2472Ile) c.184A>T (n.184A>T) c.7412A>T (p.Asn2471Ile) c.7424A>T (p.Asn2475Ile) c.7403A>T (p.Asn2468Ile) c.7058A>T (p.Asn2353Ile) c.3404A>T (p.Asn1135Ile) c.7298A>T (p.Asn2433Ile) c.7289A>T (p.Asn2430Ile) c.7304A>T (p.Asn2435Ile) c.1601A>T (p.Asn534Ile) | |
X | g.31774075T>C | CA10378280 | DMD | c.2273A>G (p.Asn758Ser) c.47A>G (p.Asn16Ser) n.1088A>G n.1010A>G n.919A>G c.7427A>G (p.Asn2476Ser) c.3395A>G (p.Asn1132Ser) c.416A>G (p.Asn139Ser) c.515A>G (p.Asn172Ser) c.7415A>G (p.Asn2472Ser) c.184A>G (n.184A>G) c.7412A>G (p.Asn2471Ser) c.7424A>G (p.Asn2475Ser) c.7403A>G (p.Asn2468Ser) c.7058A>G (p.Asn2353Ser) c.3404A>G (p.Asn1135Ser) c.7298A>G (p.Asn2433Ser) c.7289A>G (p.Asn2430Ser) c.7304A>G (p.Asn2435Ser) c.1601A>G (p.Asn534Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31774075T>G | CA412658951 | DMD | c.2273A>C (p.Asn758Thr) c.47A>C (p.Asn16Thr) n.1088A>C n.1010A>C n.919A>C c.7427A>C (p.Asn2476Thr) c.3395A>C (p.Asn1132Thr) c.416A>C (p.Asn139Thr) c.515A>C (p.Asn172Thr) c.7415A>C (p.Asn2472Thr) c.184A>C (n.184A>C) c.7412A>C (p.Asn2471Thr) c.7424A>C (p.Asn2475Thr) c.7403A>C (p.Asn2468Thr) c.7058A>C (p.Asn2353Thr) c.3404A>C (p.Asn1135Thr) c.7298A>C (p.Asn2433Thr) c.7289A>C (p.Asn2430Thr) c.7304A>C (p.Asn2435Thr) c.1601A>C (p.Asn534Thr) | |
X | g.31774075T= | CA2422548649 | DMD | c.2273A= (p.Asn758=) c.47A= (p.Asn16=) n.1088A= n.1010A= n.919A= c.7427A= (p.Asn2476=) c.3395A= (p.Asn1132=) c.416A= (p.Asn139=) c.515A= (p.Asn172=) c.7415A= (p.Asn2472=) c.184A= (n.184A=) c.7412A= (p.Asn2471=) c.7424A= (p.Asn2475=) c.7403A= (p.Asn2468=) c.7058A= (p.Asn2353=) c.3404A= (p.Asn1135=) c.7298A= (p.Asn2433=) c.7289A= (p.Asn2430=) c.7304A= (p.Asn2435=) c.1601A= (p.Asn534=) | |
X | g.31774076del | CA2580100605 | DMD | c.2273del (p.Asn758ThrfsTer18) c.47del (p.Asn16ThrfsTer18) n.1088del n.1010del n.919del c.7427del (p.Asn2476ThrfsTer18) c.3395del (p.Asn1132ThrfsTer18) c.416del (p.Asn139ThrfsTer18) c.515del (p.Asn172ThrfsTer18) c.7415del (p.Asn2472ThrfsTer18) c.184del (n.184del) c.7412del (p.Asn2471ThrfsTer18) c.7424del (p.Asn2475ThrfsTer18) c.7403del (p.Asn2468ThrfsTer18) c.7058del (p.Asn2353ThrfsTer18) c.3404del (p.Asn1135ThrfsTer18) c.7298del (p.Asn2433ThrfsTer18) c.7289del (p.Asn2430ThrfsTer18) c.7304del (p.Asn2435ThrfsTer18) c.1601del (p.Asn534ThrfsTer18) | ClinVar |
X | g.31774076T>A | CA412658952 | DMD | c.2272A>T (p.Asn758Tyr) c.46A>T (p.Asn16Tyr) n.1087A>T n.1009A>T n.918A>T c.7426A>T (p.Asn2476Tyr) c.3394A>T (p.Asn1132Tyr) c.415A>T (p.Asn139Tyr) c.514A>T (p.Asn172Tyr) c.7414A>T (p.Asn2472Tyr) c.183A>T (n.183A>T) c.7411A>T (p.Asn2471Tyr) c.7423A>T (p.Asn2475Tyr) c.7402A>T (p.Asn2468Tyr) c.7057A>T (p.Asn2353Tyr) c.3403A>T (p.Asn1135Tyr) c.7297A>T (p.Asn2433Tyr) c.7288A>T (p.Asn2430Tyr) c.7303A>T (p.Asn2435Tyr) c.1600A>T (p.Asn534Tyr) | |
X | g.31774076T>C | CA412658954 | DMD | c.2272A>G (p.Asn758Asp) c.46A>G (p.Asn16Asp) n.1087A>G n.1009A>G n.918A>G c.7426A>G (p.Asn2476Asp) c.3394A>G (p.Asn1132Asp) c.415A>G (p.Asn139Asp) c.514A>G (p.Asn172Asp) c.7414A>G (p.Asn2472Asp) c.183A>G (n.183A>G) c.7411A>G (p.Asn2471Asp) c.7423A>G (p.Asn2475Asp) c.7402A>G (p.Asn2468Asp) c.7057A>G (p.Asn2353Asp) c.3403A>G (p.Asn1135Asp) c.7297A>G (p.Asn2433Asp) c.7288A>G (p.Asn2430Asp) c.7303A>G (p.Asn2435Asp) c.1600A>G (p.Asn534Asp) | |
X | g.31774076T>G | CA412658953 | DMD | c.2272A>C (p.Asn758His) c.46A>C (p.Asn16His) n.1087A>C n.1009A>C n.918A>C c.7426A>C (p.Asn2476His) c.3394A>C (p.Asn1132His) c.415A>C (p.Asn139His) c.514A>C (p.Asn172His) c.7414A>C (p.Asn2472His) c.183A>C (n.183A>C) c.7411A>C (p.Asn2471His) c.7423A>C (p.Asn2475His) c.7402A>C (p.Asn2468His) c.7057A>C (p.Asn2353His) c.3403A>C (p.Asn1135His) c.7297A>C (p.Asn2433His) c.7288A>C (p.Asn2430His) c.7303A>C (p.Asn2435His) c.1600A>C (p.Asn534His) | |
X | g.31774077del | CA2695232447 | DMD | c.2271del (p.Phe757LeufsTer19) c.45del (p.Phe15LeufsTer19) n.1086del n.1008del n.917del c.7425del (p.Phe2475LeufsTer19) c.3393del (p.Phe1131LeufsTer19) c.414del (p.Phe138LeufsTer19) c.513del (p.Phe171LeufsTer19) c.7413del (p.Phe2471LeufsTer19) c.182del (n.182del) c.7410del (p.Phe2470LeufsTer19) c.7422del (p.Phe2474LeufsTer19) c.7401del (p.Phe2467LeufsTer19) c.7056del (p.Phe2352LeufsTer19) c.3402del (p.Phe1134LeufsTer19) c.7296del (p.Phe2432LeufsTer19) c.7287del (p.Phe2429LeufsTer19) c.7302del (p.Phe2434LeufsTer19) c.1599del (p.Phe533LeufsTer19) | |
X | g.31774077G>A | CA515859356 | DMD | c.2271C>T (p.Phe757=) c.45C>T (p.Phe15=) n.1086C>T n.1008C>T n.917C>T c.7425C>T (p.Phe2475=) c.3393C>T (p.Phe1131=) c.414C>T (p.Phe138=) c.513C>T (p.Phe171=) c.7413C>T (p.Phe2471=) c.182C>T (n.182C>T) c.7410C>T (p.Phe2470=) c.7422C>T (p.Phe2474=) c.7401C>T (p.Phe2467=) c.7056C>T (p.Phe2352=) c.3402C>T (p.Phe1134=) c.7296C>T (p.Phe2432=) c.7287C>T (p.Phe2429=) c.7302C>T (p.Phe2434=) c.1599C>T (p.Phe533=) | |
X | g.31774077G>C | CA412658955 | DMD | c.2271C>G (p.Phe757Leu) c.45C>G (p.Phe15Leu) n.1086C>G n.1008C>G n.917C>G c.7425C>G (p.Phe2475Leu) c.3393C>G (p.Phe1131Leu) c.414C>G (p.Phe138Leu) c.513C>G (p.Phe171Leu) c.7413C>G (p.Phe2471Leu) c.182C>G (n.182C>G) c.7410C>G (p.Phe2470Leu) c.7422C>G (p.Phe2474Leu) c.7401C>G (p.Phe2467Leu) c.7056C>G (p.Phe2352Leu) c.3402C>G (p.Phe1134Leu) c.7296C>G (p.Phe2432Leu) c.7287C>G (p.Phe2429Leu) c.7302C>G (p.Phe2434Leu) c.1599C>G (p.Phe533Leu) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774077G>T | CA412658956 | DMD | c.2271C>A (p.Phe757Leu) c.45C>A (p.Phe15Leu) n.1086C>A n.1008C>A n.917C>A c.7425C>A (p.Phe2475Leu) c.3393C>A (p.Phe1131Leu) c.414C>A (p.Phe138Leu) c.513C>A (p.Phe171Leu) c.7413C>A (p.Phe2471Leu) c.182C>A (n.182C>A) c.7410C>A (p.Phe2470Leu) c.7422C>A (p.Phe2474Leu) c.7401C>A (p.Phe2467Leu) c.7056C>A (p.Phe2352Leu) c.3402C>A (p.Phe1134Leu) c.7296C>A (p.Phe2432Leu) c.7287C>A (p.Phe2429Leu) c.7302C>A (p.Phe2434Leu) c.1599C>A (p.Phe533Leu) | gnomAD v4 |
X | g.31774078A= | CA2422548650 | DMD | c.2270T= (p.Phe757=) c.44T= (p.Phe15=) n.1085T= n.1007T= n.916T= c.7424T= (p.Phe2475=) c.3392T= (p.Phe1131=) c.413T= (p.Phe138=) c.512T= (p.Phe171=) c.7412T= (p.Phe2471=) c.181T= (n.181T=) c.7409T= (p.Phe2470=) c.7421T= (p.Phe2474=) c.7400T= (p.Phe2467=) c.7055T= (p.Phe2352=) c.3401T= (p.Phe1134=) c.7295T= (p.Phe2432=) c.7286T= (p.Phe2429=) c.7301T= (p.Phe2434=) c.1598T= (p.Phe533=) | |
X | g.31774078A>C | CA412658957 | DMD | c.2270T>G (p.Phe757Cys) c.44T>G (p.Phe15Cys) n.1085T>G n.1007T>G n.916T>G c.7424T>G (p.Phe2475Cys) c.3392T>G (p.Phe1131Cys) c.413T>G (p.Phe138Cys) c.512T>G (p.Phe171Cys) c.7412T>G (p.Phe2471Cys) c.181T>G (n.181T>G) c.7409T>G (p.Phe2470Cys) c.7421T>G (p.Phe2474Cys) c.7400T>G (p.Phe2467Cys) c.7055T>G (p.Phe2352Cys) c.3401T>G (p.Phe1134Cys) c.7295T>G (p.Phe2432Cys) c.7286T>G (p.Phe2429Cys) c.7301T>G (p.Phe2434Cys) c.1598T>G (p.Phe533Cys) | |
X | g.31774078A>G | CA412658958 | DMD | c.2270T>C (p.Phe757Ser) c.44T>C (p.Phe15Ser) n.1085T>C n.1007T>C n.916T>C c.7424T>C (p.Phe2475Ser) c.3392T>C (p.Phe1131Ser) c.413T>C (p.Phe138Ser) c.512T>C (p.Phe171Ser) c.7412T>C (p.Phe2471Ser) c.181T>C (n.181T>C) c.7409T>C (p.Phe2470Ser) c.7421T>C (p.Phe2474Ser) c.7400T>C (p.Phe2467Ser) c.7055T>C (p.Phe2352Ser) c.3401T>C (p.Phe1134Ser) c.7295T>C (p.Phe2432Ser) c.7286T>C (p.Phe2429Ser) c.7301T>C (p.Phe2434Ser) c.1598T>C (p.Phe533Ser) | |
X | g.31774078A>T | CA412658959 | DMD | c.2270T>A (p.Phe757Tyr) c.44T>A (p.Phe15Tyr) n.1085T>A n.1007T>A n.916T>A c.7424T>A (p.Phe2475Tyr) c.3392T>A (p.Phe1131Tyr) c.413T>A (p.Phe138Tyr) c.512T>A (p.Phe171Tyr) c.7412T>A (p.Phe2471Tyr) c.181T>A (n.181T>A) c.7409T>A (p.Phe2470Tyr) c.7421T>A (p.Phe2474Tyr) c.7400T>A (p.Phe2467Tyr) c.7055T>A (p.Phe2352Tyr) c.3401T>A (p.Phe1134Tyr) c.7295T>A (p.Phe2432Tyr) c.7286T>A (p.Phe2429Tyr) c.7301T>A (p.Phe2434Tyr) c.1598T>A (p.Phe533Tyr) | dbSNP |
X | g.31774079A>C | CA412658960 | DMD | c.2269T>G (p.Phe757Val) c.43T>G (p.Phe15Val) n.1084T>G n.1006T>G n.915T>G c.7423T>G (p.Phe2475Val) c.3391T>G (p.Phe1131Val) c.412T>G (p.Phe138Val) c.511T>G (p.Phe171Val) c.7411T>G (p.Phe2471Val) c.180T>G (n.180T>G) c.7408T>G (p.Phe2470Val) c.7420T>G (p.Phe2474Val) c.7399T>G (p.Phe2467Val) c.7054T>G (p.Phe2352Val) c.3400T>G (p.Phe1134Val) c.7294T>G (p.Phe2432Val) c.7285T>G (p.Phe2429Val) c.7300T>G (p.Phe2434Val) c.1597T>G (p.Phe533Val) | |
X | g.31774079A>G | CA412658961 | DMD | c.2269T>C (p.Phe757Leu) c.43T>C (p.Phe15Leu) n.1084T>C n.1006T>C n.915T>C c.7423T>C (p.Phe2475Leu) c.3391T>C (p.Phe1131Leu) c.412T>C (p.Phe138Leu) c.511T>C (p.Phe171Leu) c.7411T>C (p.Phe2471Leu) c.180T>C (n.180T>C) c.7408T>C (p.Phe2470Leu) c.7420T>C (p.Phe2474Leu) c.7399T>C (p.Phe2467Leu) c.7054T>C (p.Phe2352Leu) c.3400T>C (p.Phe1134Leu) c.7294T>C (p.Phe2432Leu) c.7285T>C (p.Phe2429Leu) c.7300T>C (p.Phe2434Leu) c.1597T>C (p.Phe533Leu) | |
X | g.31774079A>T | CA412658962 | DMD | c.2269T>A (p.Phe757Ile) c.43T>A (p.Phe15Ile) n.1084T>A n.1006T>A n.915T>A c.7423T>A (p.Phe2475Ile) c.3391T>A (p.Phe1131Ile) c.412T>A (p.Phe138Ile) c.511T>A (p.Phe171Ile) c.7411T>A (p.Phe2471Ile) c.180T>A (n.180T>A) c.7408T>A (p.Phe2470Ile) c.7420T>A (p.Phe2474Ile) c.7399T>A (p.Phe2467Ile) c.7054T>A (p.Phe2352Ile) c.3400T>A (p.Phe1134Ile) c.7294T>A (p.Phe2432Ile) c.7285T>A (p.Phe2429Ile) c.7300T>A (p.Phe2434Ile) c.1597T>A (p.Phe533Ile) | |
X | g.31774080A>C | CA412658963 | DMD | c.2268T>G (p.Asp756Glu) c.42T>G (p.Asp14Glu) n.1083T>G n.1005T>G n.914T>G c.7422T>G (p.Asp2474Glu) c.3390T>G (p.Asp1130Glu) c.411T>G (p.Asp137Glu) c.510T>G (p.Asp170Glu) c.7410T>G (p.Asp2470Glu) c.179T>G (n.179T>G) c.7407T>G (p.Asp2469Glu) c.7419T>G (p.Asp2473Glu) c.7398T>G (p.Asp2466Glu) c.7053T>G (p.Asp2351Glu) c.3399T>G (p.Asp1133Glu) c.7293T>G (p.Asp2431Glu) c.7284T>G (p.Asp2428Glu) c.7299T>G (p.Asp2433Glu) c.1596T>G (p.Asp532Glu) | |
X | g.31774080A>G | CA515859357 | DMD | c.2268T>C (p.Asp756=) c.42T>C (p.Asp14=) n.1083T>C n.1005T>C n.914T>C c.7422T>C (p.Asp2474=) c.3390T>C (p.Asp1130=) c.411T>C (p.Asp137=) c.510T>C (p.Asp170=) c.7410T>C (p.Asp2470=) c.179T>C (n.179T>C) c.7407T>C (p.Asp2469=) c.7419T>C (p.Asp2473=) c.7398T>C (p.Asp2466=) c.7053T>C (p.Asp2351=) c.3399T>C (p.Asp1133=) c.7293T>C (p.Asp2431=) c.7284T>C (p.Asp2428=) c.7299T>C (p.Asp2433=) c.1596T>C (p.Asp532=) | |
X | g.31774080A>T | CA412658964 | DMD | c.2268T>A (p.Asp756Glu) c.42T>A (p.Asp14Glu) n.1083T>A n.1005T>A n.914T>A c.7422T>A (p.Asp2474Glu) c.3390T>A (p.Asp1130Glu) c.411T>A (p.Asp137Glu) c.510T>A (p.Asp170Glu) c.7410T>A (p.Asp2470Glu) c.179T>A (n.179T>A) c.7407T>A (p.Asp2469Glu) c.7419T>A (p.Asp2473Glu) c.7398T>A (p.Asp2466Glu) c.7053T>A (p.Asp2351Glu) c.3399T>A (p.Asp1133Glu) c.7293T>A (p.Asp2431Glu) c.7284T>A (p.Asp2428Glu) c.7299T>A (p.Asp2433Glu) c.1596T>A (p.Asp532Glu) | |
X | g.31774081T>A | CA412658966 | DMD | c.2267A>T (p.Asp756Val) c.41A>T (p.Asp14Val) n.1082A>T n.1004A>T n.913A>T c.7421A>T (p.Asp2474Val) c.3389A>T (p.Asp1130Val) c.410A>T (p.Asp137Val) c.509A>T (p.Asp170Val) c.7409A>T (p.Asp2470Val) c.178A>T (n.178A>T) c.7406A>T (p.Asp2469Val) c.7418A>T (p.Asp2473Val) c.7397A>T (p.Asp2466Val) c.7052A>T (p.Asp2351Val) c.3398A>T (p.Asp1133Val) c.7292A>T (p.Asp2431Val) c.7283A>T (p.Asp2428Val) c.7298A>T (p.Asp2433Val) c.1595A>T (p.Asp532Val) | |
X | g.31774081T>C | CA412658967 | DMD | c.2267A>G (p.Asp756Gly) c.41A>G (p.Asp14Gly) n.1082A>G n.1004A>G n.913A>G c.7421A>G (p.Asp2474Gly) c.3389A>G (p.Asp1130Gly) c.410A>G (p.Asp137Gly) c.509A>G (p.Asp170Gly) c.7409A>G (p.Asp2470Gly) c.178A>G (n.178A>G) c.7406A>G (p.Asp2469Gly) c.7418A>G (p.Asp2473Gly) c.7397A>G (p.Asp2466Gly) c.7052A>G (p.Asp2351Gly) c.3398A>G (p.Asp1133Gly) c.7292A>G (p.Asp2431Gly) c.7283A>G (p.Asp2428Gly) c.7298A>G (p.Asp2433Gly) c.1595A>G (p.Asp532Gly) | ClinVar dbSNP |
X | g.31774081T>G | CA412658965 | DMD | c.2267A>C (p.Asp756Ala) c.41A>C (p.Asp14Ala) n.1082A>C n.1004A>C n.913A>C c.7421A>C (p.Asp2474Ala) c.3389A>C (p.Asp1130Ala) c.410A>C (p.Asp137Ala) c.509A>C (p.Asp170Ala) c.7409A>C (p.Asp2470Ala) c.178A>C (n.178A>C) c.7406A>C (p.Asp2469Ala) c.7418A>C (p.Asp2473Ala) c.7397A>C (p.Asp2466Ala) c.7052A>C (p.Asp2351Ala) c.3398A>C (p.Asp1133Ala) c.7292A>C (p.Asp2431Ala) c.7283A>C (p.Asp2428Ala) c.7298A>C (p.Asp2433Ala) c.1595A>C (p.Asp532Ala) | |
X | g.31774082C>A | CA412658968 | DMD | c.2266G>T (p.Asp756Tyr) c.40G>T (p.Asp14Tyr) n.1081G>T n.1003G>T n.912G>T c.7420G>T (p.Asp2474Tyr) c.3388G>T (p.Asp1130Tyr) c.409G>T (p.Asp137Tyr) c.508G>T (p.Asp170Tyr) c.7408G>T (p.Asp2470Tyr) c.177G>T (n.177G>T) c.7405G>T (p.Asp2469Tyr) c.7417G>T (p.Asp2473Tyr) c.7396G>T (p.Asp2466Tyr) c.7051G>T (p.Asp2351Tyr) c.3397G>T (p.Asp1133Tyr) c.7291G>T (p.Asp2431Tyr) c.7282G>T (p.Asp2428Tyr) c.7297G>T (p.Asp2433Tyr) c.1594G>T (p.Asp532Tyr) | COSMIC COSMIC COSMIC COSMIC |
X | g.31774082C>G | CA412658969 | DMD | c.2266G>C (p.Asp756His) c.40G>C (p.Asp14His) n.1081G>C n.1003G>C n.912G>C c.7420G>C (p.Asp2474His) c.3388G>C (p.Asp1130His) c.409G>C (p.Asp137His) c.508G>C (p.Asp170His) c.7408G>C (p.Asp2470His) c.177G>C (n.177G>C) c.7405G>C (p.Asp2469His) c.7417G>C (p.Asp2473His) c.7396G>C (p.Asp2466His) c.7051G>C (p.Asp2351His) c.3397G>C (p.Asp1133His) c.7291G>C (p.Asp2431His) c.7282G>C (p.Asp2428His) c.7297G>C (p.Asp2433His) c.1594G>C (p.Asp532His) | |
X | g.31774082C>T | CA412658970 | DMD | c.2266G>A (p.Asp756Asn) c.40G>A (p.Asp14Asn) n.1081G>A n.1003G>A n.912G>A c.7420G>A (p.Asp2474Asn) c.3388G>A (p.Asp1130Asn) c.409G>A (p.Asp137Asn) c.508G>A (p.Asp170Asn) c.7408G>A (p.Asp2470Asn) c.177G>A (n.177G>A) c.7405G>A (p.Asp2469Asn) c.7417G>A (p.Asp2473Asn) c.7396G>A (p.Asp2466Asn) c.7051G>A (p.Asp2351Asn) c.3397G>A (p.Asp1133Asn) c.7291G>A (p.Asp2431Asn) c.7282G>A (p.Asp2428Asn) c.7297G>A (p.Asp2433Asn) c.1594G>A (p.Asp532Asn) | |
X | g.31774083T>A | CA515859358 | DMD | c.2265A>T (p.Ala755=) c.39A>T (p.Ala13=) n.1080A>T n.1002A>T n.911A>T c.7419A>T (p.Ala2473=) c.3387A>T (p.Ala1129=) c.408A>T (p.Ala136=) c.507A>T (p.Ala169=) c.7407A>T (p.Ala2469=) c.176A>T (n.176A>T) c.7404A>T (p.Ala2468=) c.7416A>T (p.Ala2472=) c.7395A>T (p.Ala2465=) c.7050A>T (p.Ala2350=) c.3396A>T (p.Ala1132=) c.7290A>T (p.Ala2430=) c.7281A>T (p.Ala2427=) c.7296A>T (p.Ala2432=) c.1593A>T (p.Ala531=) | |
X | g.31774083T>C | CA515859359 | DMD | c.2265A>G (p.Ala755=) c.39A>G (p.Ala13=) n.1080A>G n.1002A>G n.911A>G c.7419A>G (p.Ala2473=) c.3387A>G (p.Ala1129=) c.408A>G (p.Ala136=) c.507A>G (p.Ala169=) c.7407A>G (p.Ala2469=) c.176A>G (n.176A>G) c.7404A>G (p.Ala2468=) c.7416A>G (p.Ala2472=) c.7395A>G (p.Ala2465=) c.7050A>G (p.Ala2350=) c.3396A>G (p.Ala1132=) c.7290A>G (p.Ala2430=) c.7281A>G (p.Ala2427=) c.7296A>G (p.Ala2432=) c.1593A>G (p.Ala531=) | |
X | g.31774083T>G | CA515859360 | DMD | c.2265A>C (p.Ala755=) c.39A>C (p.Ala13=) n.1080A>C n.1002A>C n.911A>C c.7419A>C (p.Ala2473=) c.3387A>C (p.Ala1129=) c.408A>C (p.Ala136=) c.507A>C (p.Ala169=) c.7407A>C (p.Ala2469=) c.176A>C (n.176A>C) c.7404A>C (p.Ala2468=) c.7416A>C (p.Ala2472=) c.7395A>C (p.Ala2465=) c.7050A>C (p.Ala2350=) c.3396A>C (p.Ala1132=) c.7290A>C (p.Ala2430=) c.7281A>C (p.Ala2427=) c.7296A>C (p.Ala2432=) c.1593A>C (p.Ala531=) | |
X | g.31774084G>A | CA412658971 | DMD | c.2264C>T (p.Ala755Val) c.38C>T (p.Ala13Val) n.1079C>T n.1001C>T n.910C>T c.7418C>T (p.Ala2473Val) c.3386C>T (p.Ala1129Val) c.407C>T (p.Ala136Val) c.506C>T (p.Ala169Val) c.7406C>T (p.Ala2469Val) c.175C>T (n.175C>T) c.7403C>T (p.Ala2468Val) c.7415C>T (p.Ala2472Val) c.7394C>T (p.Ala2465Val) c.7049C>T (p.Ala2350Val) c.3395C>T (p.Ala1132Val) c.7289C>T (p.Ala2430Val) c.7280C>T (p.Ala2427Val) c.7295C>T (p.Ala2432Val) c.1592C>T (p.Ala531Val) | ClinVar gnomAD v4 |
X | g.31774084G>C | CA412658972 | DMD | c.2264C>G (p.Ala755Gly) c.38C>G (p.Ala13Gly) n.1079C>G n.1001C>G n.910C>G c.7418C>G (p.Ala2473Gly) c.3386C>G (p.Ala1129Gly) c.407C>G (p.Ala136Gly) c.506C>G (p.Ala169Gly) c.7406C>G (p.Ala2469Gly) c.175C>G (n.175C>G) c.7403C>G (p.Ala2468Gly) c.7415C>G (p.Ala2472Gly) c.7394C>G (p.Ala2465Gly) c.7049C>G (p.Ala2350Gly) c.3395C>G (p.Ala1132Gly) c.7289C>G (p.Ala2430Gly) c.7280C>G (p.Ala2427Gly) c.7295C>G (p.Ala2432Gly) c.1592C>G (p.Ala531Gly) | |
X | g.31774084G>T | CA412658973 | DMD | c.2264C>A (p.Ala755Glu) c.38C>A (p.Ala13Glu) n.1079C>A n.1001C>A n.910C>A c.7418C>A (p.Ala2473Glu) c.3386C>A (p.Ala1129Glu) c.407C>A (p.Ala136Glu) c.506C>A (p.Ala169Glu) c.7406C>A (p.Ala2469Glu) c.175C>A (n.175C>A) c.7403C>A (p.Ala2468Glu) c.7415C>A (p.Ala2472Glu) c.7394C>A (p.Ala2465Glu) c.7049C>A (p.Ala2350Glu) c.3395C>A (p.Ala1132Glu) c.7289C>A (p.Ala2430Glu) c.7280C>A (p.Ala2427Glu) c.7295C>A (p.Ala2432Glu) c.1592C>A (p.Ala531Glu) | |
X | g.31774085C>A | CA412658976 | DMD | c.2263G>T (p.Ala755Ser) c.37G>T (p.Ala13Ser) n.1078G>T n.1000G>T n.909G>T c.7417G>T (p.Ala2473Ser) c.3385G>T (p.Ala1129Ser) c.406G>T (p.Ala136Ser) c.505G>T (p.Ala169Ser) c.7405G>T (p.Ala2469Ser) c.174G>T (n.174G>T) c.7402G>T (p.Ala2468Ser) c.7414G>T (p.Ala2472Ser) c.7393G>T (p.Ala2465Ser) c.7048G>T (p.Ala2350Ser) c.3394G>T (p.Ala1132Ser) c.7288G>T (p.Ala2430Ser) c.7279G>T (p.Ala2427Ser) c.7294G>T (p.Ala2432Ser) c.1591G>T (p.Ala531Ser) | |
X | g.31774085C>G | CA412658974 | DMD | c.2263G>C (p.Ala755Pro) c.37G>C (p.Ala13Pro) n.1078G>C n.1000G>C n.909G>C c.7417G>C (p.Ala2473Pro) c.3385G>C (p.Ala1129Pro) c.406G>C (p.Ala136Pro) c.505G>C (p.Ala169Pro) c.7405G>C (p.Ala2469Pro) c.174G>C (n.174G>C) c.7402G>C (p.Ala2468Pro) c.7414G>C (p.Ala2472Pro) c.7393G>C (p.Ala2465Pro) c.7048G>C (p.Ala2350Pro) c.3394G>C (p.Ala1132Pro) c.7288G>C (p.Ala2430Pro) c.7279G>C (p.Ala2427Pro) c.7294G>C (p.Ala2432Pro) c.1591G>C (p.Ala531Pro) | |
X | g.31774085C>T | CA412658975 | DMD | c.2263G>A (p.Ala755Thr) c.37G>A (p.Ala13Thr) n.1078G>A n.1000G>A n.909G>A c.7417G>A (p.Ala2473Thr) c.3385G>A (p.Ala1129Thr) c.406G>A (p.Ala136Thr) c.505G>A (p.Ala169Thr) c.7405G>A (p.Ala2469Thr) c.174G>A (n.174G>A) c.7402G>A (p.Ala2468Thr) c.7414G>A (p.Ala2472Thr) c.7393G>A (p.Ala2465Thr) c.7048G>A (p.Ala2350Thr) c.3394G>A (p.Ala1132Thr) c.7288G>A (p.Ala2430Thr) c.7279G>A (p.Ala2427Thr) c.7294G>A (p.Ala2432Thr) c.1591G>A (p.Ala531Thr) | |
X | g.31774086C>A | CA515859361 | DMD | c.2262G>T (p.Leu754=) c.36G>T (p.Leu12=) n.1077G>T n.999G>T n.908G>T c.7416G>T (p.Leu2472=) c.3384G>T (p.Leu1128=) c.405G>T (p.Leu135=) c.504G>T (p.Leu168=) c.7404G>T (p.Leu2468=) c.173G>T (n.173G>T) c.7401G>T (p.Leu2467=) c.7413G>T (p.Leu2471=) c.7392G>T (p.Leu2464=) c.7047G>T (p.Leu2349=) c.3393G>T (p.Leu1131=) c.7287G>T (p.Leu2429=) c.7278G>T (p.Leu2426=) c.7293G>T (p.Leu2431=) c.1590G>T (p.Leu530=) | |
X | g.31774086C>G | CA515859362 | DMD | c.2262G>C (p.Leu754=) c.36G>C (p.Leu12=) n.1077G>C n.999G>C n.908G>C c.7416G>C (p.Leu2472=) c.3384G>C (p.Leu1128=) c.405G>C (p.Leu135=) c.504G>C (p.Leu168=) c.7404G>C (p.Leu2468=) c.173G>C (n.173G>C) c.7401G>C (p.Leu2467=) c.7413G>C (p.Leu2471=) c.7392G>C (p.Leu2464=) c.7047G>C (p.Leu2349=) c.3393G>C (p.Leu1131=) c.7287G>C (p.Leu2429=) c.7278G>C (p.Leu2426=) c.7293G>C (p.Leu2431=) c.1590G>C (p.Leu530=) | |
X | g.31774086C>T | CA515859363 | DMD | c.2262G>A (p.Leu754=) c.36G>A (p.Leu12=) n.1077G>A n.999G>A n.908G>A c.7416G>A (p.Leu2472=) c.3384G>A (p.Leu1128=) c.405G>A (p.Leu135=) c.504G>A (p.Leu168=) c.7404G>A (p.Leu2468=) c.173G>A (n.173G>A) c.7401G>A (p.Leu2467=) c.7413G>A (p.Leu2471=) c.7392G>A (p.Leu2464=) c.7047G>A (p.Leu2349=) c.3393G>A (p.Leu1131=) c.7287G>A (p.Leu2429=) c.7278G>A (p.Leu2426=) c.7293G>A (p.Leu2431=) c.1590G>A (p.Leu530=) | |
X | g.31774087A>C | CA412658977 | DMD | c.2261T>G (p.Leu754Arg) c.35T>G (p.Leu12Arg) n.1076T>G n.998T>G n.907T>G c.7415T>G (p.Leu2472Arg) c.3383T>G (p.Leu1128Arg) c.404T>G (p.Leu135Arg) c.503T>G (p.Leu168Arg) c.7403T>G (p.Leu2468Arg) c.172T>G (n.172T>G) c.7400T>G (p.Leu2467Arg) c.7412T>G (p.Leu2471Arg) c.7391T>G (p.Leu2464Arg) c.7046T>G (p.Leu2349Arg) c.3392T>G (p.Leu1131Arg) c.7286T>G (p.Leu2429Arg) c.7277T>G (p.Leu2426Arg) c.7292T>G (p.Leu2431Arg) c.1589T>G (p.Leu530Arg) | |
X | g.31774087A>G | CA412658978 | DMD | c.2261T>C (p.Leu754Pro) c.35T>C (p.Leu12Pro) n.1076T>C n.998T>C n.907T>C c.7415T>C (p.Leu2472Pro) c.3383T>C (p.Leu1128Pro) c.404T>C (p.Leu135Pro) c.503T>C (p.Leu168Pro) c.7403T>C (p.Leu2468Pro) c.172T>C (n.172T>C) c.7400T>C (p.Leu2467Pro) c.7412T>C (p.Leu2471Pro) c.7391T>C (p.Leu2464Pro) c.7046T>C (p.Leu2349Pro) c.3392T>C (p.Leu1131Pro) c.7286T>C (p.Leu2429Pro) c.7277T>C (p.Leu2426Pro) c.7292T>C (p.Leu2431Pro) c.1589T>C (p.Leu530Pro) | |
X | g.31774087A>T | CA412658979 | DMD | c.2261T>A (p.Leu754Gln) c.35T>A (p.Leu12Gln) n.1076T>A n.998T>A n.907T>A c.7415T>A (p.Leu2472Gln) c.3383T>A (p.Leu1128Gln) c.404T>A (p.Leu135Gln) c.503T>A (p.Leu168Gln) c.7403T>A (p.Leu2468Gln) c.172T>A (n.172T>A) c.7400T>A (p.Leu2467Gln) c.7412T>A (p.Leu2471Gln) c.7391T>A (p.Leu2464Gln) c.7046T>A (p.Leu2349Gln) c.3392T>A (p.Leu1131Gln) c.7286T>A (p.Leu2429Gln) c.7277T>A (p.Leu2426Gln) c.7292T>A (p.Leu2431Gln) c.1589T>A (p.Leu530Gln) | |
X | g.31774088G>A | CA515859364 | DMD | c.2260C>T (p.Leu754=) c.34C>T (p.Leu12=) n.1075C>T n.997C>T n.906C>T c.7414C>T (p.Leu2472=) c.3382C>T (p.Leu1128=) c.403C>T (p.Leu135=) c.502C>T (p.Leu168=) c.7402C>T (p.Leu2468=) c.171C>T (n.171C>T) c.7399C>T (p.Leu2467=) c.7411C>T (p.Leu2471=) c.7390C>T (p.Leu2464=) c.7045C>T (p.Leu2349=) c.3391C>T (p.Leu1131=) c.7285C>T (p.Leu2429=) c.7276C>T (p.Leu2426=) c.7291C>T (p.Leu2431=) c.1588C>T (p.Leu530=) | |
X | g.31774088G>C | CA412658980 | DMD | c.2260C>G (p.Leu754Val) c.34C>G (p.Leu12Val) n.1075C>G n.997C>G n.906C>G c.7414C>G (p.Leu2472Val) c.3382C>G (p.Leu1128Val) c.403C>G (p.Leu135Val) c.502C>G (p.Leu168Val) c.7402C>G (p.Leu2468Val) c.171C>G (n.171C>G) c.7399C>G (p.Leu2467Val) c.7411C>G (p.Leu2471Val) c.7390C>G (p.Leu2464Val) c.7045C>G (p.Leu2349Val) c.3391C>G (p.Leu1131Val) c.7285C>G (p.Leu2429Val) c.7276C>G (p.Leu2426Val) c.7291C>G (p.Leu2431Val) c.1588C>G (p.Leu530Val) | |
X | g.31774088G>T | CA412658981 | DMD | c.2260C>A (p.Leu754Met) c.34C>A (p.Leu12Met) n.1075C>A n.997C>A n.906C>A c.7414C>A (p.Leu2472Met) c.3382C>A (p.Leu1128Met) c.403C>A (p.Leu135Met) c.502C>A (p.Leu168Met) c.7402C>A (p.Leu2468Met) c.171C>A (n.171C>A) c.7399C>A (p.Leu2467Met) c.7411C>A (p.Leu2471Met) c.7390C>A (p.Leu2464Met) c.7045C>A (p.Leu2349Met) c.3391C>A (p.Leu1131Met) c.7285C>A (p.Leu2429Met) c.7276C>A (p.Leu2426Met) c.7291C>A (p.Leu2431Met) c.1588C>A (p.Leu530Met) | |
X | g.31774089A>C | CA515859365 | DMD | c.2259T>G (p.Ala753=) c.33T>G (p.Ala11=) n.1074T>G n.996T>G n.905T>G c.7413T>G (p.Ala2471=) c.3381T>G (p.Ala1127=) c.402T>G (p.Ala134=) c.501T>G (p.Ala167=) c.7401T>G (p.Ala2467=) c.170T>G (n.170T>G) c.7398T>G (p.Ala2466=) c.7410T>G (p.Ala2470=) c.7389T>G (p.Ala2463=) c.7044T>G (p.Ala2348=) c.3390T>G (p.Ala1130=) c.7284T>G (p.Ala2428=) c.7275T>G (p.Ala2425=) c.7290T>G (p.Ala2430=) c.1587T>G (p.Ala529=) | |
X | g.31774089A>G | CA515859366 | DMD | c.2259T>C (p.Ala753=) c.33T>C (p.Ala11=) n.1074T>C n.996T>C n.905T>C c.7413T>C (p.Ala2471=) c.3381T>C (p.Ala1127=) c.402T>C (p.Ala134=) c.501T>C (p.Ala167=) c.7401T>C (p.Ala2467=) c.170T>C (n.170T>C) c.7398T>C (p.Ala2466=) c.7410T>C (p.Ala2470=) c.7389T>C (p.Ala2463=) c.7044T>C (p.Ala2348=) c.3390T>C (p.Ala1130=) c.7284T>C (p.Ala2428=) c.7275T>C (p.Ala2425=) c.7290T>C (p.Ala2430=) c.1587T>C (p.Ala529=) | |
X | g.31774089A>T | CA515859367 | DMD | c.2259T>A (p.Ala753=) c.33T>A (p.Ala11=) n.1074T>A n.996T>A n.905T>A c.7413T>A (p.Ala2471=) c.3381T>A (p.Ala1127=) c.402T>A (p.Ala134=) c.501T>A (p.Ala167=) c.7401T>A (p.Ala2467=) c.170T>A (n.170T>A) c.7398T>A (p.Ala2466=) c.7410T>A (p.Ala2470=) c.7389T>A (p.Ala2463=) c.7044T>A (p.Ala2348=) c.3390T>A (p.Ala1130=) c.7284T>A (p.Ala2428=) c.7275T>A (p.Ala2425=) c.7290T>A (p.Ala2430=) c.1587T>A (p.Ala529=) | ClinVar dbSNP |
X | g.31774090G>A | CA412658982 | DMD | c.2258C>T (p.Ala753Val) c.32C>T (p.Ala11Val) n.1073C>T n.995C>T n.904C>T c.7412C>T (p.Ala2471Val) c.3380C>T (p.Ala1127Val) c.401C>T (p.Ala134Val) c.500C>T (p.Ala167Val) c.7400C>T (p.Ala2467Val) c.169C>T (n.169C>T) c.7397C>T (p.Ala2466Val) c.7409C>T (p.Ala2470Val) c.7388C>T (p.Ala2463Val) c.7043C>T (p.Ala2348Val) c.3389C>T (p.Ala1130Val) c.7283C>T (p.Ala2428Val) c.7274C>T (p.Ala2425Val) c.7289C>T (p.Ala2430Val) c.1586C>T (p.Ala529Val) | |
X | g.31774090G>C | CA412658984 | DMD | c.2258C>G (p.Ala753Gly) c.32C>G (p.Ala11Gly) n.1073C>G n.995C>G n.904C>G c.7412C>G (p.Ala2471Gly) c.3380C>G (p.Ala1127Gly) c.401C>G (p.Ala134Gly) c.500C>G (p.Ala167Gly) c.7400C>G (p.Ala2467Gly) c.169C>G (n.169C>G) c.7397C>G (p.Ala2466Gly) c.7409C>G (p.Ala2470Gly) c.7388C>G (p.Ala2463Gly) c.7043C>G (p.Ala2348Gly) c.3389C>G (p.Ala1130Gly) c.7283C>G (p.Ala2428Gly) c.7274C>G (p.Ala2425Gly) c.7289C>G (p.Ala2430Gly) c.1586C>G (p.Ala529Gly) | |
X | g.31774090G>T | CA412658983 | DMD | c.2258C>A (p.Ala753Asp) c.32C>A (p.Ala11Asp) n.1073C>A n.995C>A n.904C>A c.7412C>A (p.Ala2471Asp) c.3380C>A (p.Ala1127Asp) c.401C>A (p.Ala134Asp) c.500C>A (p.Ala167Asp) c.7400C>A (p.Ala2467Asp) c.169C>A (n.169C>A) c.7397C>A (p.Ala2466Asp) c.7409C>A (p.Ala2470Asp) c.7388C>A (p.Ala2463Asp) c.7043C>A (p.Ala2348Asp) c.3389C>A (p.Ala1130Asp) c.7283C>A (p.Ala2428Asp) c.7274C>A (p.Ala2425Asp) c.7289C>A (p.Ala2430Asp) c.1586C>A (p.Ala529Asp) | |
X | g.31774091C>A | CA412658985 | DMD | c.2257G>T (p.Ala753Ser) c.31G>T (p.Ala11Ser) n.1072G>T n.994G>T n.903G>T c.7411G>T (p.Ala2471Ser) c.3379G>T (p.Ala1127Ser) c.400G>T (p.Ala134Ser) c.499G>T (p.Ala167Ser) c.7399G>T (p.Ala2467Ser) c.168G>T (n.168G>T) c.7396G>T (p.Ala2466Ser) c.7408G>T (p.Ala2470Ser) c.7387G>T (p.Ala2463Ser) c.7042G>T (p.Ala2348Ser) c.3388G>T (p.Ala1130Ser) c.7282G>T (p.Ala2428Ser) c.7273G>T (p.Ala2425Ser) c.7288G>T (p.Ala2430Ser) c.1585G>T (p.Ala529Ser) | |
X | g.31774091C>G | CA412658986 | DMD | c.2257G>C (p.Ala753Pro) c.31G>C (p.Ala11Pro) n.1072G>C n.994G>C n.903G>C c.7411G>C (p.Ala2471Pro) c.3379G>C (p.Ala1127Pro) c.400G>C (p.Ala134Pro) c.499G>C (p.Ala167Pro) c.7399G>C (p.Ala2467Pro) c.168G>C (n.168G>C) c.7396G>C (p.Ala2466Pro) c.7408G>C (p.Ala2470Pro) c.7387G>C (p.Ala2463Pro) c.7042G>C (p.Ala2348Pro) c.3388G>C (p.Ala1130Pro) c.7282G>C (p.Ala2428Pro) c.7273G>C (p.Ala2425Pro) c.7288G>C (p.Ala2430Pro) c.1585G>C (p.Ala529Pro) | COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31774091C>T | CA412658987 | DMD | c.2257G>A (p.Ala753Thr) c.31G>A (p.Ala11Thr) n.1072G>A n.994G>A n.903G>A c.7411G>A (p.Ala2471Thr) c.3379G>A (p.Ala1127Thr) c.400G>A (p.Ala134Thr) c.499G>A (p.Ala167Thr) c.7399G>A (p.Ala2467Thr) c.168G>A (n.168G>A) c.7396G>A (p.Ala2466Thr) c.7408G>A (p.Ala2470Thr) c.7387G>A (p.Ala2463Thr) c.7042G>A (p.Ala2348Thr) c.3388G>A (p.Ala1130Thr) c.7282G>A (p.Ala2428Thr) c.7273G>A (p.Ala2425Thr) c.7288G>A (p.Ala2430Thr) c.1585G>A (p.Ala529Thr) | |
X | g.31774092A>C | CA515859370 | DMD | c.2256T>G (p.Pro752=) c.30T>G (p.Pro10=) n.1071T>G n.993T>G n.902T>G c.7410T>G (p.Pro2470=) c.3378T>G (p.Pro1126=) c.399T>G (p.Pro133=) c.498T>G (p.Pro166=) c.7398T>G (p.Pro2466=) c.167T>G (n.167T>G) c.7395T>G (p.Pro2465=) c.7407T>G (p.Pro2469=) c.7386T>G (p.Pro2462=) c.7041T>G (p.Pro2347=) c.3387T>G (p.Pro1129=) c.7281T>G (p.Pro2427=) c.7272T>G (p.Pro2424=) c.7287T>G (p.Pro2429=) c.1584T>G (p.Pro528=) | |
X | g.31774092A>G | CA515859369 | DMD | c.2256T>C (p.Pro752=) c.30T>C (p.Pro10=) n.1071T>C n.993T>C n.902T>C c.7410T>C (p.Pro2470=) c.3378T>C (p.Pro1126=) c.399T>C (p.Pro133=) c.498T>C (p.Pro166=) c.7398T>C (p.Pro2466=) c.167T>C (n.167T>C) c.7395T>C (p.Pro2465=) c.7407T>C (p.Pro2469=) c.7386T>C (p.Pro2462=) c.7041T>C (p.Pro2347=) c.3387T>C (p.Pro1129=) c.7281T>C (p.Pro2427=) c.7272T>C (p.Pro2424=) c.7287T>C (p.Pro2429=) c.1584T>C (p.Pro528=) | |
X | g.31774092A>T | CA515859368 | DMD | c.2256T>A (p.Pro752=) c.30T>A (p.Pro10=) n.1071T>A n.993T>A n.902T>A c.7410T>A (p.Pro2470=) c.3378T>A (p.Pro1126=) c.399T>A (p.Pro133=) c.498T>A (p.Pro166=) c.7398T>A (p.Pro2466=) c.167T>A (n.167T>A) c.7395T>A (p.Pro2465=) c.7407T>A (p.Pro2469=) c.7386T>A (p.Pro2462=) c.7041T>A (p.Pro2347=) c.3387T>A (p.Pro1129=) c.7281T>A (p.Pro2427=) c.7272T>A (p.Pro2424=) c.7287T>A (p.Pro2429=) c.1584T>A (p.Pro528=) | |
X | g.31774093G>A | CA412658988 | DMD | c.2255C>T (p.Pro752Leu) c.29C>T (p.Pro10Leu) n.1070C>T n.992C>T n.901C>T c.7409C>T (p.Pro2470Leu) c.3377C>T (p.Pro1126Leu) c.398C>T (p.Pro133Leu) c.497C>T (p.Pro166Leu) c.7397C>T (p.Pro2466Leu) c.166C>T (n.166C>T) c.7394C>T (p.Pro2465Leu) c.7406C>T (p.Pro2469Leu) c.7385C>T (p.Pro2462Leu) c.7040C>T (p.Pro2347Leu) c.3386C>T (p.Pro1129Leu) c.7280C>T (p.Pro2427Leu) c.7271C>T (p.Pro2424Leu) c.7286C>T (p.Pro2429Leu) c.1583C>T (p.Pro528Leu) | |
X | g.31774093G>C | CA412658989 | DMD | c.2255C>G (p.Pro752Arg) c.29C>G (p.Pro10Arg) n.1070C>G n.992C>G n.901C>G c.7409C>G (p.Pro2470Arg) c.3377C>G (p.Pro1126Arg) c.398C>G (p.Pro133Arg) c.497C>G (p.Pro166Arg) c.7397C>G (p.Pro2466Arg) c.166C>G (n.166C>G) c.7394C>G (p.Pro2465Arg) c.7406C>G (p.Pro2469Arg) c.7385C>G (p.Pro2462Arg) c.7040C>G (p.Pro2347Arg) c.3386C>G (p.Pro1129Arg) c.7280C>G (p.Pro2427Arg) c.7271C>G (p.Pro2424Arg) c.7286C>G (p.Pro2429Arg) c.1583C>G (p.Pro528Arg) | |
X | g.31774093G>T | CA412658990 | DMD | c.2255C>A (p.Pro752His) c.29C>A (p.Pro10His) n.1070C>A n.992C>A n.901C>A c.7409C>A (p.Pro2470His) c.3377C>A (p.Pro1126His) c.398C>A (p.Pro133His) c.497C>A (p.Pro166His) c.7397C>A (p.Pro2466His) c.166C>A (n.166C>A) c.7394C>A (p.Pro2465His) c.7406C>A (p.Pro2469His) c.7385C>A (p.Pro2462His) c.7040C>A (p.Pro2347His) c.3386C>A (p.Pro1129His) c.7280C>A (p.Pro2427His) c.7271C>A (p.Pro2424His) c.7286C>A (p.Pro2429His) c.1583C>A (p.Pro528His) | |
X | g.31774094G>A | CA412658991 | DMD | c.2254C>T (p.Pro752Ser) c.28C>T (p.Pro10Ser) n.1069C>T n.991C>T n.900C>T c.7408C>T (p.Pro2470Ser) c.3376C>T (p.Pro1126Ser) c.397C>T (p.Pro133Ser) c.496C>T (p.Pro166Ser) c.7396C>T (p.Pro2466Ser) c.165C>T (n.165C>T) c.7393C>T (p.Pro2465Ser) c.7405C>T (p.Pro2469Ser) c.7384C>T (p.Pro2462Ser) c.7039C>T (p.Pro2347Ser) c.3385C>T (p.Pro1129Ser) c.7279C>T (p.Pro2427Ser) c.7270C>T (p.Pro2424Ser) c.7285C>T (p.Pro2429Ser) c.1582C>T (p.Pro528Ser) | |
X | g.31774094G>C | CA412658992 | DMD | c.2254C>G (p.Pro752Ala) c.28C>G (p.Pro10Ala) n.1069C>G n.991C>G n.900C>G c.7408C>G (p.Pro2470Ala) c.3376C>G (p.Pro1126Ala) c.397C>G (p.Pro133Ala) c.496C>G (p.Pro166Ala) c.7396C>G (p.Pro2466Ala) c.165C>G (n.165C>G) c.7393C>G (p.Pro2465Ala) c.7405C>G (p.Pro2469Ala) c.7384C>G (p.Pro2462Ala) c.7039C>G (p.Pro2347Ala) c.3385C>G (p.Pro1129Ala) c.7279C>G (p.Pro2427Ala) c.7270C>G (p.Pro2424Ala) c.7285C>G (p.Pro2429Ala) c.1582C>G (p.Pro528Ala) | |
X | g.31774094G>T | CA412658993 | DMD | c.2254C>A (p.Pro752Thr) c.28C>A (p.Pro10Thr) n.1069C>A n.991C>A n.900C>A c.7408C>A (p.Pro2470Thr) c.3376C>A (p.Pro1126Thr) c.397C>A (p.Pro133Thr) c.496C>A (p.Pro166Thr) c.7396C>A (p.Pro2466Thr) c.165C>A (n.165C>A) c.7393C>A (p.Pro2465Thr) c.7405C>A (p.Pro2469Thr) c.7384C>A (p.Pro2462Thr) c.7039C>A (p.Pro2347Thr) c.3385C>A (p.Pro1129Thr) c.7279C>A (p.Pro2427Thr) c.7270C>A (p.Pro2424Thr) c.7285C>A (p.Pro2429Thr) c.1582C>A (p.Pro528Thr) | |
X | g.31774095T>A | CA515859371 | DMD | c.2253A>T (p.Val751=) c.27A>T (p.Val9=) n.1068A>T n.990A>T n.899A>T c.7407A>T (p.Val2469=) c.3375A>T (p.Val1125=) c.396A>T (p.Val132=) c.495A>T (p.Val165=) c.7395A>T (p.Val2465=) c.164A>T (n.164A>T) c.7392A>T (p.Val2464=) c.7404A>T (p.Val2468=) c.7383A>T (p.Val2461=) c.7038A>T (p.Val2346=) c.3384A>T (p.Val1128=) c.7278A>T (p.Val2426=) c.7269A>T (p.Val2423=) c.7284A>T (p.Val2428=) c.1581A>T (p.Val527=) | |
X | g.31774095T>C | CA515859372 | DMD | c.2253A>G (p.Val751=) c.27A>G (p.Val9=) n.1068A>G n.990A>G n.899A>G c.7407A>G (p.Val2469=) c.3375A>G (p.Val1125=) c.396A>G (p.Val132=) c.495A>G (p.Val165=) c.7395A>G (p.Val2465=) c.164A>G (n.164A>G) c.7392A>G (p.Val2464=) c.7404A>G (p.Val2468=) c.7383A>G (p.Val2461=) c.7038A>G (p.Val2346=) c.3384A>G (p.Val1128=) c.7278A>G (p.Val2426=) c.7269A>G (p.Val2423=) c.7284A>G (p.Val2428=) c.1581A>G (p.Val527=) | ClinVar |
X | g.31774095T>G | CA515859373 | DMD | c.2253A>C (p.Val751=) c.27A>C (p.Val9=) n.1068A>C n.990A>C n.899A>C c.7407A>C (p.Val2469=) c.3375A>C (p.Val1125=) c.396A>C (p.Val132=) c.495A>C (p.Val165=) c.7395A>C (p.Val2465=) c.164A>C (n.164A>C) c.7392A>C (p.Val2464=) c.7404A>C (p.Val2468=) c.7383A>C (p.Val2461=) c.7038A>C (p.Val2346=) c.3384A>C (p.Val1128=) c.7278A>C (p.Val2426=) c.7269A>C (p.Val2423=) c.7284A>C (p.Val2428=) c.1581A>C (p.Val527=) | ClinVar dbSNP |