| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32364687del | CA267050 | DMD | c.5052del (p.Phe1684LeufsTer?) c.1020del (p.Phe340LeufsTer?) c.5040del (p.Phe1680LeufsTer?) c.300del (p.Phe100LeufsTer?) c.120del (p.Phe40LeufsTer?) n.336-147621del c.5028del (p.Phe1676LeufsTer?) c.4683del (p.Phe1561LeufsTer?) c.1029del (p.Phe343LeufsTer?) c.4923del (p.Phe1641LeufsTer?) | dbSNP |
| X | g.32364687A>C | CA515714732 | DMD | c.5049T>G (p.Thr1683=) c.1017T>G (p.Thr339=) c.5037T>G (p.Thr1679=) c.297T>G (p.Thr99=) c.117T>G (p.Thr39=) n.336-147624T>G c.5025T>G (p.Thr1675=) c.4680T>G (p.Thr1560=) c.1026T>G (p.Thr342=) c.4920T>G (p.Thr1640=) | |
| X | g.32364687A>G | CA515714733 | DMD | c.5049T>C (p.Thr1683=) c.1017T>C (p.Thr339=) c.5037T>C (p.Thr1679=) c.297T>C (p.Thr99=) c.117T>C (p.Thr39=) n.336-147624T>C c.5025T>C (p.Thr1675=) c.4680T>C (p.Thr1560=) c.1026T>C (p.Thr342=) c.4920T>C (p.Thr1640=) | |
| X | g.32364687A>T | CA515714734 | DMD | c.5049T>A (p.Thr1683=) c.1017T>A (p.Thr339=) c.5037T>A (p.Thr1679=) c.297T>A (p.Thr99=) c.117T>A (p.Thr39=) n.336-147624T>A c.5025T>A (p.Thr1675=) c.4680T>A (p.Thr1560=) c.1026T>A (p.Thr342=) c.4920T>A (p.Thr1640=) | |
| X | g.32364688del | CA2580616933 | DMD | c.5048del (p.Thr1683IlefsTer?) c.1016del (p.Thr339IlefsTer?) c.5036del (p.Thr1679IlefsTer?) c.296del (p.Thr99IlefsTer?) c.116del (p.Thr39IlefsTer?) n.336-147625del c.5024del (p.Thr1675IlefsTer?) c.4679del (p.Thr1560IlefsTer?) c.1025del (p.Thr342IlefsTer?) c.4919del (p.Thr1640IlefsTer?) | ClinVar |
| X | g.32364688G>A | CA412671649 | DMD | c.5048C>T (p.Thr1683Ile) c.1016C>T (p.Thr339Ile) c.5036C>T (p.Thr1679Ile) c.296C>T (p.Thr99Ile) c.116C>T (p.Thr39Ile) n.336-147625C>T c.5024C>T (p.Thr1675Ile) c.4679C>T (p.Thr1560Ile) c.1025C>T (p.Thr342Ile) c.4919C>T (p.Thr1640Ile) | dbSNP |
| X | g.32364688G>C | CA10378782 | DMD | c.5048C>G (p.Thr1683Ser) c.1016C>G (p.Thr339Ser) c.5036C>G (p.Thr1679Ser) c.296C>G (p.Thr99Ser) c.116C>G (p.Thr39Ser) n.336-147625C>G c.5024C>G (p.Thr1675Ser) c.4679C>G (p.Thr1560Ser) c.1025C>G (p.Thr342Ser) c.4919C>G (p.Thr1640Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32364688G= | CA2422769943 | DMD | c.5048C= (p.Thr1683=) c.1016C= (p.Thr339=) c.5036C= (p.Thr1679=) c.296C= (p.Thr99=) c.116C= (p.Thr39=) n.336-147625C= c.5024C= (p.Thr1675=) c.4679C= (p.Thr1560=) c.1025C= (p.Thr342=) c.4919C= (p.Thr1640=) | |
| X | g.32364688G>T | CA412671650 | DMD | c.5048C>A (p.Thr1683Asn) c.1016C>A (p.Thr339Asn) c.5036C>A (p.Thr1679Asn) c.296C>A (p.Thr99Asn) c.116C>A (p.Thr39Asn) n.336-147625C>A c.5024C>A (p.Thr1675Asn) c.4679C>A (p.Thr1560Asn) c.1025C>A (p.Thr342Asn) c.4919C>A (p.Thr1640Asn) | |
| X | g.32364689T>A | CA412671651 | DMD | c.5047A>T (p.Thr1683Ser) c.1015A>T (p.Thr339Ser) c.5035A>T (p.Thr1679Ser) c.295A>T (p.Thr99Ser) c.115A>T (p.Thr39Ser) n.336-147626A>T c.5023A>T (p.Thr1675Ser) c.4678A>T (p.Thr1560Ser) c.1024A>T (p.Thr342Ser) c.4918A>T (p.Thr1640Ser) | dbSNP |
| X | g.32364689T>C | CA412671652 | DMD | c.5047A>G (p.Thr1683Ala) c.1015A>G (p.Thr339Ala) c.5035A>G (p.Thr1679Ala) c.295A>G (p.Thr99Ala) c.115A>G (p.Thr39Ala) n.336-147626A>G c.5023A>G (p.Thr1675Ala) c.4678A>G (p.Thr1560Ala) c.1024A>G (p.Thr342Ala) c.4918A>G (p.Thr1640Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32364689T>G | CA10646120 | DMD | c.5047A>C (p.Thr1683Pro) c.1015A>C (p.Thr339Pro) c.5035A>C (p.Thr1679Pro) c.295A>C (p.Thr99Pro) c.115A>C (p.Thr39Pro) n.336-147626A>C c.5023A>C (p.Thr1675Pro) c.4678A>C (p.Thr1560Pro) c.1024A>C (p.Thr342Pro) c.4918A>C (p.Thr1640Pro) | ClinVar dbSNP |
| X | g.32364689T= | CA2422769944 | DMD | c.5047A= (p.Thr1683=) c.1015A= (p.Thr339=) c.5035A= (p.Thr1679=) c.295A= (p.Thr99=) c.115A= (p.Thr39=) n.336-147626A= c.5023A= (p.Thr1675=) c.4678A= (p.Thr1560=) c.1024A= (p.Thr342=) c.4918A= (p.Thr1640=) | |
| X | g.32364690T>A | CA412671653 | DMD | c.5046A>T (p.Glu1682Asp) c.1014A>T (p.Glu338Asp) c.5034A>T (p.Glu1678Asp) c.294A>T (p.Glu98Asp) c.114A>T (p.Glu38Asp) n.336-147627A>T c.5022A>T (p.Glu1674Asp) c.4677A>T (p.Glu1559Asp) c.1023A>T (p.Glu341Asp) c.4917A>T (p.Glu1639Asp) | |
| X | g.32364690T>C | CA515714735 | DMD | c.5046A>G (p.Glu1682=) c.1014A>G (p.Glu338=) c.5034A>G (p.Glu1678=) c.294A>G (p.Glu98=) c.114A>G (p.Glu38=) n.336-147627A>G c.5022A>G (p.Glu1674=) c.4677A>G (p.Glu1559=) c.1023A>G (p.Glu341=) c.4917A>G (p.Glu1639=) | |
| X | g.32364690T>G | CA412671654 | DMD | c.5046A>C (p.Glu1682Asp) c.1014A>C (p.Glu338Asp) c.5034A>C (p.Glu1678Asp) c.294A>C (p.Glu98Asp) c.114A>C (p.Glu38Asp) n.336-147627A>C c.5022A>C (p.Glu1674Asp) c.4677A>C (p.Glu1559Asp) c.1023A>C (p.Glu341Asp) c.4917A>C (p.Glu1639Asp) | |
| X | g.32364691T>A | CA412671657 | DMD | c.5045A>T (p.Glu1682Val) c.1013A>T (p.Glu338Val) c.5033A>T (p.Glu1678Val) c.293A>T (p.Glu98Val) c.113A>T (p.Glu38Val) n.336-147628A>T c.5021A>T (p.Glu1674Val) c.4676A>T (p.Glu1559Val) c.1022A>T (p.Glu341Val) c.4916A>T (p.Glu1639Val) | |
| X | g.32364691T>C | CA412671656 | DMD | c.5045A>G (p.Glu1682Gly) c.1013A>G (p.Glu338Gly) c.5033A>G (p.Glu1678Gly) c.293A>G (p.Glu98Gly) c.113A>G (p.Glu38Gly) n.336-147628A>G c.5021A>G (p.Glu1674Gly) c.4676A>G (p.Glu1559Gly) c.1022A>G (p.Glu341Gly) c.4916A>G (p.Glu1639Gly) | |
| X | g.32364691T>G | CA412671655 | DMD | c.5045A>C (p.Glu1682Ala) c.1013A>C (p.Glu338Ala) c.5033A>C (p.Glu1678Ala) c.293A>C (p.Glu98Ala) c.113A>C (p.Glu38Ala) n.336-147628A>C c.5021A>C (p.Glu1674Ala) c.4676A>C (p.Glu1559Ala) c.1022A>C (p.Glu341Ala) c.4916A>C (p.Glu1639Ala) | gnomAD v4 |
| X | g.32364692C>A | CA412671658 | DMD | c.5044G>T (p.Glu1682Ter) c.1012G>T (p.Glu338Ter) c.5032G>T (p.Glu1678Ter) c.292G>T (p.Glu98Ter) c.112G>T (p.Glu38Ter) n.336-147629G>T c.5020G>T (p.Glu1674Ter) c.4675G>T (p.Glu1559Ter) c.1021G>T (p.Glu341Ter) c.4915G>T (p.Glu1639Ter) | dbSNP |
| X | g.32364692C>G | CA412671659 | DMD | c.5044G>C (p.Glu1682Gln) c.1012G>C (p.Glu338Gln) c.5032G>C (p.Glu1678Gln) c.292G>C (p.Glu98Gln) c.112G>C (p.Glu38Gln) n.336-147629G>C c.5020G>C (p.Glu1674Gln) c.4675G>C (p.Glu1559Gln) c.1021G>C (p.Glu341Gln) c.4915G>C (p.Glu1639Gln) | |
| X | g.32364692C>T | CA412671660 | DMD | c.5044G>A (p.Glu1682Lys) c.1012G>A (p.Glu338Lys) c.5032G>A (p.Glu1678Lys) c.292G>A (p.Glu98Lys) c.112G>A (p.Glu38Lys) n.336-147629G>A c.5020G>A (p.Glu1674Lys) c.4675G>A (p.Glu1559Lys) c.1021G>A (p.Glu341Lys) c.4915G>A (p.Glu1639Lys) | ClinVar dbSNP gnomAD v4 |
| X | g.32364693C>A | CA412671661 | DMD | c.5043G>T (p.Met1681Ile) c.1011G>T (p.Met337Ile) c.5031G>T (p.Met1677Ile) c.291G>T (p.Met97Ile) c.111G>T (p.Met37Ile) n.336-147630G>T c.5019G>T (p.Met1673Ile) c.4674G>T (p.Met1558Ile) c.1020G>T (p.Met340Ile) c.4914G>T (p.Met1638Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32364693C= | CA2422769945 | DMD | c.5043G= (p.Met1681=) c.1011G= (p.Met337=) c.5031G= (p.Met1677=) c.291G= (p.Met97=) c.111G= (p.Met37=) n.336-147630G= c.5019G= (p.Met1673=) c.4674G= (p.Met1558=) c.1020G= (p.Met340=) c.4914G= (p.Met1638=) | |
| X | g.32364693C>G | CA412671662 | DMD | c.5043G>C (p.Met1681Ile) c.1011G>C (p.Met337Ile) c.5031G>C (p.Met1677Ile) c.291G>C (p.Met97Ile) c.111G>C (p.Met37Ile) n.336-147630G>C c.5019G>C (p.Met1673Ile) c.4674G>C (p.Met1558Ile) c.1020G>C (p.Met340Ile) c.4914G>C (p.Met1638Ile) | |
| X | g.32364693C>T | CA327995299 | DMD | c.5043G>A (p.Met1681Ile) c.1011G>A (p.Met337Ile) c.5031G>A (p.Met1677Ile) c.291G>A (p.Met97Ile) c.111G>A (p.Met37Ile) n.336-147630G>A c.5019G>A (p.Met1673Ile) c.4674G>A (p.Met1558Ile) c.1020G>A (p.Met340Ile) c.4914G>A (p.Met1638Ile) | ClinVar dbSNP |
| X | g.32364694A>C | CA412671663 | DMD | c.5042T>G (p.Met1681Arg) c.1010T>G (p.Met337Arg) c.5030T>G (p.Met1677Arg) c.290T>G (p.Met97Arg) c.110T>G (p.Met37Arg) n.336-147631T>G c.5018T>G (p.Met1673Arg) c.4673T>G (p.Met1558Arg) c.1019T>G (p.Met340Arg) c.4913T>G (p.Met1638Arg) | |
| X | g.32364694A>G | CA412671664 | DMD | c.5042T>C (p.Met1681Thr) c.1010T>C (p.Met337Thr) c.5030T>C (p.Met1677Thr) c.290T>C (p.Met97Thr) c.110T>C (p.Met37Thr) n.336-147631T>C c.5018T>C (p.Met1673Thr) c.4673T>C (p.Met1558Thr) c.1019T>C (p.Met340Thr) c.4913T>C (p.Met1638Thr) | |
| X | g.32364694A>T | CA412671665 | DMD | c.5042T>A (p.Met1681Lys) c.1010T>A (p.Met337Lys) c.5030T>A (p.Met1677Lys) c.290T>A (p.Met97Lys) c.110T>A (p.Met37Lys) n.336-147631T>A c.5018T>A (p.Met1673Lys) c.4673T>A (p.Met1558Lys) c.1019T>A (p.Met340Lys) c.4913T>A (p.Met1638Lys) | |
| X | g.32364695T>A | CA412671666 | DMD | c.5041A>T (p.Met1681Leu) c.1009A>T (p.Met337Leu) c.5029A>T (p.Met1677Leu) c.289A>T (p.Met97Leu) c.109A>T (p.Met37Leu) n.336-147632A>T c.5017A>T (p.Met1673Leu) c.4672A>T (p.Met1558Leu) c.1018A>T (p.Met340Leu) c.4912A>T (p.Met1638Leu) | |
| X | g.32364695T>C | CA412671667 | DMD | c.5041A>G (p.Met1681Val) c.1009A>G (p.Met337Val) c.5029A>G (p.Met1677Val) c.289A>G (p.Met97Val) c.109A>G (p.Met37Val) n.336-147632A>G c.5017A>G (p.Met1673Val) c.4672A>G (p.Met1558Val) c.1018A>G (p.Met340Val) c.4912A>G (p.Met1638Val) | ClinVar |
| X | g.32364695T>G | CA412671668 | DMD | c.5041A>C (p.Met1681Leu) c.1009A>C (p.Met337Leu) c.5029A>C (p.Met1677Leu) c.289A>C (p.Met97Leu) c.109A>C (p.Met37Leu) n.336-147632A>C c.5017A>C (p.Met1673Leu) c.4672A>C (p.Met1558Leu) c.1018A>C (p.Met340Leu) c.4912A>C (p.Met1638Leu) | |
| X | g.32364696G>A | CA16616680 | DMD | c.5040C>T (p.His1680=) c.1008C>T (p.His336=) c.5028C>T (p.His1676=) c.288C>T (p.His96=) c.108C>T (p.His36=) n.336-147633C>T c.5016C>T (p.His1672=) c.4671C>T (p.His1557=) c.1017C>T (p.His339=) c.4911C>T (p.His1637=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32364696G>C | CA412671670 | DMD | c.5040C>G (p.His1680Gln) c.1008C>G (p.His336Gln) c.5028C>G (p.His1676Gln) c.288C>G (p.His96Gln) c.108C>G (p.His36Gln) n.336-147633C>G c.5016C>G (p.His1672Gln) c.4671C>G (p.His1557Gln) c.1017C>G (p.His339Gln) c.4911C>G (p.His1637Gln) | |
| X | g.32364696G= | CA2422769946 | DMD | c.5040C= (p.His1680=) c.1008C= (p.His336=) c.5028C= (p.His1676=) c.288C= (p.His96=) c.108C= (p.His36=) n.336-147633C= c.5016C= (p.His1672=) c.4671C= (p.His1557=) c.1017C= (p.His339=) c.4911C= (p.His1637=) | |
| X | g.32364696G>T | CA412671669 | DMD | c.5040C>A (p.His1680Gln) c.1008C>A (p.His336Gln) c.5028C>A (p.His1676Gln) c.288C>A (p.His96Gln) c.108C>A (p.His36Gln) n.336-147633C>A c.5016C>A (p.His1672Gln) c.4671C>A (p.His1557Gln) c.1017C>A (p.His339Gln) c.4911C>A (p.His1637Gln) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32364697T>A | CA412671673 | DMD | c.5039A>T (p.His1680Leu) c.1007A>T (p.His336Leu) c.5027A>T (p.His1676Leu) c.287A>T (p.His96Leu) c.107A>T (p.His36Leu) n.336-147634A>T c.5015A>T (p.His1672Leu) c.4670A>T (p.His1557Leu) c.1016A>T (p.His339Leu) c.4910A>T (p.His1637Leu) | |
| X | g.32364697T>C | CA412671671 | DMD | c.5039A>G (p.His1680Arg) c.1007A>G (p.His336Arg) c.5027A>G (p.His1676Arg) c.287A>G (p.His96Arg) c.107A>G (p.His36Arg) n.336-147634A>G c.5015A>G (p.His1672Arg) c.4670A>G (p.His1557Arg) c.1016A>G (p.His339Arg) c.4910A>G (p.His1637Arg) | |
| X | g.32364697T>G | CA412671672 | DMD | c.5039A>C (p.His1680Pro) c.1007A>C (p.His336Pro) c.5027A>C (p.His1676Pro) c.287A>C (p.His96Pro) c.107A>C (p.His36Pro) n.336-147634A>C c.5015A>C (p.His1672Pro) c.4670A>C (p.His1557Pro) c.1016A>C (p.His339Pro) c.4910A>C (p.His1637Pro) | |
| X | g.32364698G>A | CA412671674 | DMD | c.5038C>T (p.His1680Tyr) c.1006C>T (p.His336Tyr) c.5026C>T (p.His1676Tyr) c.286C>T (p.His96Tyr) c.106C>T (p.His36Tyr) n.336-147635C>T c.5014C>T (p.His1672Tyr) c.4669C>T (p.His1557Tyr) c.1015C>T (p.His339Tyr) c.4909C>T (p.His1637Tyr) | gnomAD v4 |
| X | g.32364698G>C | CA412671675 | DMD | c.5038C>G (p.His1680Asp) c.1006C>G (p.His336Asp) c.5026C>G (p.His1676Asp) c.286C>G (p.His96Asp) c.106C>G (p.His36Asp) n.336-147635C>G c.5014C>G (p.His1672Asp) c.4669C>G (p.His1557Asp) c.1015C>G (p.His339Asp) c.4909C>G (p.His1637Asp) | |
| X | g.32364698G>T | CA412671676 | DMD | c.5038C>A (p.His1680Asn) c.1006C>A (p.His336Asn) c.5026C>A (p.His1676Asn) c.286C>A (p.His96Asn) c.106C>A (p.His36Asn) n.336-147635C>A c.5014C>A (p.His1672Asn) c.4669C>A (p.His1557Asn) c.1015C>A (p.His339Asn) c.4909C>A (p.His1637Asn) | |
| X | g.32364699T>A | CA412671677 | DMD | c.5037A>T (p.Lys1679Asn) c.1005A>T (p.Lys335Asn) c.5025A>T (p.Lys1675Asn) c.285A>T (p.Lys95Asn) c.105A>T (p.Lys35Asn) n.336-147636A>T c.5013A>T (p.Lys1671Asn) c.4668A>T (p.Lys1556Asn) c.1014A>T (p.Lys338Asn) c.4908A>T (p.Lys1636Asn) | |
| X | g.32364699T>C | CA515714736 | DMD | c.5037A>G (p.Lys1679=) c.1005A>G (p.Lys335=) c.5025A>G (p.Lys1675=) c.285A>G (p.Lys95=) c.105A>G (p.Lys35=) n.336-147636A>G c.5013A>G (p.Lys1671=) c.4668A>G (p.Lys1556=) c.1014A>G (p.Lys338=) c.4908A>G (p.Lys1636=) | |
| X | g.32364699T>G | CA412671678 | DMD | c.5037A>C (p.Lys1679Asn) c.1005A>C (p.Lys335Asn) c.5025A>C (p.Lys1675Asn) c.285A>C (p.Lys95Asn) c.105A>C (p.Lys35Asn) n.336-147636A>C c.5013A>C (p.Lys1671Asn) c.4668A>C (p.Lys1556Asn) c.1014A>C (p.Lys338Asn) c.4908A>C (p.Lys1636Asn) | |
| X | g.32364700T>A | CA412671679 | DMD | c.5036A>T (p.Lys1679Ile) c.1004A>T (p.Lys335Ile) c.5024A>T (p.Lys1675Ile) c.284A>T (p.Lys95Ile) c.104A>T (p.Lys35Ile) n.336-147637A>T c.5012A>T (p.Lys1671Ile) c.4667A>T (p.Lys1556Ile) c.1013A>T (p.Lys338Ile) c.4907A>T (p.Lys1636Ile) | |
| X | g.32364700T>C | CA412671680 | DMD | c.5036A>G (p.Lys1679Arg) c.1004A>G (p.Lys335Arg) c.5024A>G (p.Lys1675Arg) c.284A>G (p.Lys95Arg) c.104A>G (p.Lys35Arg) n.336-147637A>G c.5012A>G (p.Lys1671Arg) c.4667A>G (p.Lys1556Arg) c.1013A>G (p.Lys338Arg) c.4907A>G (p.Lys1636Arg) | |
| X | g.32364700T>G | CA412671681 | DMD | c.5036A>C (p.Lys1679Thr) c.1004A>C (p.Lys335Thr) c.5024A>C (p.Lys1675Thr) c.284A>C (p.Lys95Thr) c.104A>C (p.Lys35Thr) n.336-147637A>C c.5012A>C (p.Lys1671Thr) c.4667A>C (p.Lys1556Thr) c.1013A>C (p.Lys338Thr) c.4907A>C (p.Lys1636Thr) | |
| X | g.32364701T>A | CA412671682 | DMD | c.5035A>T (p.Lys1679Ter) c.1003A>T (p.Lys335Ter) c.5023A>T (p.Lys1675Ter) c.283A>T (p.Lys95Ter) c.103A>T (p.Lys35Ter) n.336-147638A>T c.5011A>T (p.Lys1671Ter) c.4666A>T (p.Lys1556Ter) c.1012A>T (p.Lys338Ter) c.4906A>T (p.Lys1636Ter) | |
| X | g.32364701T>C | CA412671683 | DMD | c.5035A>G (p.Lys1679Glu) c.1003A>G (p.Lys335Glu) c.5023A>G (p.Lys1675Glu) c.283A>G (p.Lys95Glu) c.103A>G (p.Lys35Glu) n.336-147638A>G c.5011A>G (p.Lys1671Glu) c.4666A>G (p.Lys1556Glu) c.1012A>G (p.Lys338Glu) c.4906A>G (p.Lys1636Glu) |