| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32364587G>A | CA10378765 | DMD | c.5149C>T (p.Leu1717Phe) c.1117C>T (p.Leu373Phe) c.5137C>T (p.Leu1713Phe) n.336-147524C>T c.5125C>T (p.Leu1709Phe) c.4780C>T (p.Leu1594Phe) c.1126C>T (p.Leu376Phe) c.5020C>T (p.Leu1674Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32364587G>C | CA412671420 | DMD | c.5149C>G (p.Leu1717Val) c.1117C>G (p.Leu373Val) c.5137C>G (p.Leu1713Val) n.336-147524C>G c.5125C>G (p.Leu1709Val) c.4780C>G (p.Leu1594Val) c.1126C>G (p.Leu376Val) c.5020C>G (p.Leu1674Val) | |
| X | g.32364587G= | CA2422769887 | DMD | c.5149C= (p.Leu1717=) c.1117C= (p.Leu373=) c.5137C= (p.Leu1713=) n.336-147524C= c.5125C= (p.Leu1709=) c.4780C= (p.Leu1594=) c.1126C= (p.Leu376=) c.5020C= (p.Leu1674=) | |
| X | g.32364587G>T | CA412671421 | DMD | c.5149C>A (p.Leu1717Ile) c.1117C>A (p.Leu373Ile) c.5137C>A (p.Leu1713Ile) n.336-147524C>A c.5125C>A (p.Leu1709Ile) c.4780C>A (p.Leu1594Ile) c.1126C>A (p.Leu376Ile) c.5020C>A (p.Leu1674Ile) | ClinVar dbSNP |
| X | g.32364588C>A | CA515714688 | DMD | c.5148G>T (p.Val1716=) c.1116G>T (p.Val372=) c.5136G>T (p.Val1712=) n.336-147525G>T c.5124G>T (p.Val1708=) c.4779G>T (p.Val1593=) c.1125G>T (p.Val375=) c.5019G>T (p.Val1673=) | |
| X | g.32364588C= | CA2422769888 | DMD | c.5148G= (p.Val1716=) c.1116G= (p.Val372=) c.5136G= (p.Val1712=) n.336-147525G= c.5124G= (p.Val1708=) c.4779G= (p.Val1593=) c.1125G= (p.Val375=) c.5019G= (p.Val1673=) | |
| X | g.32364588C>G | CA515714689 | DMD | c.5148G>C (p.Val1716=) c.1116G>C (p.Val372=) c.5136G>C (p.Val1712=) n.336-147525G>C c.5124G>C (p.Val1708=) c.4779G>C (p.Val1593=) c.1125G>C (p.Val375=) c.5019G>C (p.Val1673=) | |
| X | g.32364588C>T | CA10378766 | DMD | c.5148G>A (p.Val1716=) c.1116G>A (p.Val372=) c.5136G>A (p.Val1712=) n.336-147525G>A c.5124G>A (p.Val1708=) c.4779G>A (p.Val1593=) c.1125G>A (p.Val375=) c.5019G>A (p.Val1673=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32364589A>C | CA412671422 | DMD | c.5147T>G (p.Val1716Gly) c.1115T>G (p.Val372Gly) c.5135T>G (p.Val1712Gly) n.336-147526T>G c.5123T>G (p.Val1708Gly) c.4778T>G (p.Val1593Gly) c.1124T>G (p.Val375Gly) c.5018T>G (p.Val1673Gly) | gnomAD v4 |
| X | g.32364589A>G | CA412671423 | DMD | c.5147T>C (p.Val1716Ala) c.1115T>C (p.Val372Ala) c.5135T>C (p.Val1712Ala) n.336-147526T>C c.5123T>C (p.Val1708Ala) c.4778T>C (p.Val1593Ala) c.1124T>C (p.Val375Ala) c.5018T>C (p.Val1673Ala) | |
| X | g.32364589A>T | CA412671424 | DMD | c.5147T>A (p.Val1716Glu) c.1115T>A (p.Val372Glu) c.5135T>A (p.Val1712Glu) n.336-147526T>A c.5123T>A (p.Val1708Glu) c.4778T>A (p.Val1593Glu) c.1124T>A (p.Val375Glu) c.5018T>A (p.Val1673Glu) | |
| X | g.32364590C>A | CA412671425 | DMD | c.5146G>T (p.Val1716Leu) c.1114G>T (p.Val372Leu) c.5134G>T (p.Val1712Leu) n.336-147527G>T c.5122G>T (p.Val1708Leu) c.4777G>T (p.Val1593Leu) c.1123G>T (p.Val375Leu) c.5017G>T (p.Val1673Leu) | |
| X | g.32364590C= | CA2422769889 | DMD | c.5146G= (p.Val1716=) c.1114G= (p.Val372=) c.5134G= (p.Val1712=) n.336-147527G= c.5122G= (p.Val1708=) c.4777G= (p.Val1593=) c.1123G= (p.Val375=) c.5017G= (p.Val1673=) | |
| X | g.32364590C>G | CA412671426 | DMD | c.5146G>C (p.Val1716Leu) c.1114G>C (p.Val372Leu) c.5134G>C (p.Val1712Leu) n.336-147527G>C c.5122G>C (p.Val1708Leu) c.4777G>C (p.Val1593Leu) c.1123G>C (p.Val375Leu) c.5017G>C (p.Val1673Leu) | |
| X | g.32364590C>T | CA10378767 | DMD | c.5146G>A (p.Val1716Met) c.1114G>A (p.Val372Met) c.5134G>A (p.Val1712Met) n.336-147527G>A c.5122G>A (p.Val1708Met) c.4777G>A (p.Val1593Met) c.1123G>A (p.Val375Met) c.5017G>A (p.Val1673Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32364591G>A | CA515714690 | DMD | c.5145C>T (p.Asp1715=) c.1113C>T (p.Asp371=) c.5133C>T (p.Asp1711=) n.336-147528C>T c.5121C>T (p.Asp1707=) c.4776C>T (p.Asp1592=) c.1122C>T (p.Asp374=) c.5016C>T (p.Asp1672=) | ClinVar dbSNP gnomAD v4 |
| X | g.32364591G>C | CA412671427 | DMD | c.5145C>G (p.Asp1715Glu) c.1113C>G (p.Asp371Glu) c.5133C>G (p.Asp1711Glu) n.336-147528C>G c.5121C>G (p.Asp1707Glu) c.4776C>G (p.Asp1592Glu) c.1122C>G (p.Asp374Glu) c.5016C>G (p.Asp1672Glu) | |
| X | g.32364591G= | CA2422769890 | DMD | c.5145C= (p.Asp1715=) c.1113C= (p.Asp371=) c.5133C= (p.Asp1711=) n.336-147528C= c.5121C= (p.Asp1707=) c.4776C= (p.Asp1592=) c.1122C= (p.Asp374=) c.5016C= (p.Asp1672=) | |
| X | g.32364591G>T | CA412671428 | DMD | c.5145C>A (p.Asp1715Glu) c.1113C>A (p.Asp371Glu) c.5133C>A (p.Asp1711Glu) n.336-147528C>A c.5121C>A (p.Asp1707Glu) c.4776C>A (p.Asp1592Glu) c.1122C>A (p.Asp374Glu) c.5016C>A (p.Asp1672Glu) | |
| X | g.32364591_32364594delinsGTCT | CA2422769891 | DMD | c.5142_5145delinsAGAC (p.Glu1714=) c.1110_1113delinsAGAC (p.Glu370=) c.5130_5133delinsAGAC (p.Glu1710=) n.336-147531_336-147528delinsAGAC c.5118_5121delinsAGAC (p.Glu1706=) c.4773_4776delinsAGAC (p.Glu1591=) c.1119_1122delinsAGAC (p.Glu373=) c.5013_5016delinsAGAC (p.Glu1671=) | |
| X | g.32364592T>A | CA412671430 | DMD | c.5144A>T (p.Asp1715Val) c.1112A>T (p.Asp371Val) c.5132A>T (p.Asp1711Val) n.336-147529A>T c.5120A>T (p.Asp1707Val) c.4775A>T (p.Asp1592Val) c.1121A>T (p.Asp374Val) c.5015A>T (p.Asp1672Val) | |
| X | g.32364592T>C | CA10378768 | DMD | c.5144A>G (p.Asp1715Gly) c.1112A>G (p.Asp371Gly) c.5132A>G (p.Asp1711Gly) n.336-147529A>G c.5120A>G (p.Asp1707Gly) c.4775A>G (p.Asp1592Gly) c.1121A>G (p.Asp374Gly) c.5015A>G (p.Asp1672Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32364592T>G | CA412671429 | DMD | c.5144A>C (p.Asp1715Ala) c.1112A>C (p.Asp371Ala) c.5132A>C (p.Asp1711Ala) n.336-147529A>C c.5120A>C (p.Asp1707Ala) c.4775A>C (p.Asp1592Ala) c.1121A>C (p.Asp374Ala) c.5015A>C (p.Asp1672Ala) | |
| X | g.32364592T= | CA2422769893 | DMD | c.5144A= (p.Asp1715=) c.1112A= (p.Asp371=) c.5132A= (p.Asp1711=) n.336-147529A= c.5120A= (p.Asp1707=) c.4775A= (p.Asp1592=) c.1121A= (p.Asp374=) c.5015A= (p.Asp1672=) | |
| X | g.32364596_32364598del | CA2422769892 | DMD | c.5142_5144del (p.Glu1714del) c.1110_1112del (p.Glu370del) c.5130_5132del (p.Glu1710del) n.336-147531_336-147529del c.5118_5120del (p.Glu1706del) c.4773_4775del (p.Glu1591del) c.1119_1121del (p.Glu373del) c.5013_5015del (p.Glu1671del) | ClinVar dbSNP |
| X | g.32364593C>A | CA412671431 | DMD | c.5143G>T (p.Asp1715Tyr) c.1111G>T (p.Asp371Tyr) c.5131G>T (p.Asp1711Tyr) n.336-147530G>T c.5119G>T (p.Asp1707Tyr) c.4774G>T (p.Asp1592Tyr) c.1120G>T (p.Asp374Tyr) c.5014G>T (p.Asp1672Tyr) | COSMIC COSMIC COSMIC COSMIC |
| X | g.32364593C>G | CA412671432 | DMD | c.5143G>C (p.Asp1715His) c.1111G>C (p.Asp371His) c.5131G>C (p.Asp1711His) n.336-147530G>C c.5119G>C (p.Asp1707His) c.4774G>C (p.Asp1592His) c.1120G>C (p.Asp374His) c.5014G>C (p.Asp1672His) | |
| X | g.32364593C>T | CA412671433 | DMD | c.5143G>A (p.Asp1715Asn) c.1111G>A (p.Asp371Asn) c.5131G>A (p.Asp1711Asn) n.336-147530G>A c.5119G>A (p.Asp1707Asn) c.4774G>A (p.Asp1592Asn) c.1120G>A (p.Asp374Asn) c.5014G>A (p.Asp1672Asn) | |
| X | g.32364594T>A | CA412671434 | DMD | c.5142A>T (p.Glu1714Asp) c.1110A>T (p.Glu370Asp) c.5130A>T (p.Glu1710Asp) n.336-147531A>T c.5118A>T (p.Glu1706Asp) c.4773A>T (p.Glu1591Asp) c.1119A>T (p.Glu373Asp) c.5013A>T (p.Glu1671Asp) | |
| X | g.32364594T>C | CA515714691 | DMD | c.5142A>G (p.Glu1714=) c.1110A>G (p.Glu370=) c.5130A>G (p.Glu1710=) n.336-147531A>G c.5118A>G (p.Glu1706=) c.4773A>G (p.Glu1591=) c.1119A>G (p.Glu373=) c.5013A>G (p.Glu1671=) | |
| X | g.32364594T>G | CA412671435 | DMD | c.5142A>C (p.Glu1714Asp) c.1110A>C (p.Glu370Asp) c.5130A>C (p.Glu1710Asp) n.336-147531A>C c.5118A>C (p.Glu1706Asp) c.4773A>C (p.Glu1591Asp) c.1119A>C (p.Glu373Asp) c.5013A>C (p.Glu1671Asp) | |
| X | g.32364595T>A | CA412671436 | DMD | c.5141A>T (p.Glu1714Val) c.1109A>T (p.Glu370Val) c.5129A>T (p.Glu1710Val) n.336-147532A>T c.5117A>T (p.Glu1706Val) c.4772A>T (p.Glu1591Val) c.1118A>T (p.Glu373Val) c.5012A>T (p.Glu1671Val) | |
| X | g.32364595T>C | CA412671437 | DMD | c.5141A>G (p.Glu1714Gly) c.1109A>G (p.Glu370Gly) c.5129A>G (p.Glu1710Gly) n.336-147532A>G c.5117A>G (p.Glu1706Gly) c.4772A>G (p.Glu1591Gly) c.1118A>G (p.Glu373Gly) c.5012A>G (p.Glu1671Gly) | |
| X | g.32364595T>G | CA412671438 | DMD | c.5141A>C (p.Glu1714Ala) c.1109A>C (p.Glu370Ala) c.5129A>C (p.Glu1710Ala) n.336-147532A>C c.5117A>C (p.Glu1706Ala) c.4772A>C (p.Glu1591Ala) c.1118A>C (p.Glu373Ala) c.5012A>C (p.Glu1671Ala) | |
| X | g.32364596_32364597del | CA2695234088 | DMD | c.5140_5141del (p.Glu1714ArgfsTer4) c.1108_1109del (p.Glu370ArgfsTer4) c.5128_5129del (p.Glu1710ArgfsTer4) n.336-147533_336-147532del c.5116_5117del (p.Glu1706ArgfsTer4) c.4771_4772del (p.Glu1591ArgfsTer4) c.1117_1118del (p.Glu373ArgfsTer4) c.5011_5012del (p.Glu1671ArgfsTer4) | |
| X | g.32364596del | CA2695234089 | DMD | c.5140del (p.Glu1714LysfsTer7) c.1108del (p.Glu370LysfsTer7) c.5128del (p.Glu1710LysfsTer7) n.336-147533del c.5116del (p.Glu1706LysfsTer7) c.4771del (p.Glu1591LysfsTer7) c.1117del (p.Glu373LysfsTer7) c.5011del (p.Glu1671LysfsTer7) | |
| X | g.32364596C>A | CA10604634 | DMD | c.5140G>T (p.Glu1714Ter) c.1108G>T (p.Glu370Ter) c.5128G>T (p.Glu1710Ter) n.336-147533G>T c.5116G>T (p.Glu1706Ter) c.4771G>T (p.Glu1591Ter) c.1117G>T (p.Glu373Ter) c.5011G>T (p.Glu1671Ter) | ClinVar dbSNP |
| X | g.32364596C= | CA2422769894 | DMD | c.5140G= (p.Glu1714=) c.1108G= (p.Glu370=) c.5128G= (p.Glu1710=) n.336-147533G= c.5116G= (p.Glu1706=) c.4771G= (p.Glu1591=) c.1117G= (p.Glu373=) c.5011G= (p.Glu1671=) | |
| X | g.32364596C>G | CA412671439 | DMD | c.5140G>C (p.Glu1714Gln) c.1108G>C (p.Glu370Gln) c.5128G>C (p.Glu1710Gln) n.336-147533G>C c.5116G>C (p.Glu1706Gln) c.4771G>C (p.Glu1591Gln) c.1117G>C (p.Glu373Gln) c.5011G>C (p.Glu1671Gln) | gnomAD v4 |
| X | g.32364596C>T | CA412671440 | DMD | c.5140G>A (p.Glu1714Lys) c.1108G>A (p.Glu370Lys) c.5128G>A (p.Glu1710Lys) n.336-147533G>A c.5116G>A (p.Glu1706Lys) c.4771G>A (p.Glu1591Lys) c.1117G>A (p.Glu373Lys) c.5011G>A (p.Glu1671Lys) | |
| X | g.32364596_32364597delinsA | CA2695234090 | DMD | c.5139_5140delinsT (p.Lys1713AsnfsTer8) c.1107_1108delinsT (p.Lys369AsnfsTer8) c.5127_5128delinsT (p.Lys1709AsnfsTer8) n.336-147534_336-147533delinsT c.5115_5116delinsT (p.Lys1705AsnfsTer8) c.4770_4771delinsT (p.Lys1590AsnfsTer8) c.1116_1117delinsT (p.Lys372AsnfsTer8) c.5010_5011delinsT (p.Lys1670AsnfsTer8) | |
| X | g.32364596_32364597delinsCT | CA2422769895 | DMD | c.5139_5140delinsAG (p.Lys1713=) c.1107_1108delinsAG (p.Lys369=) c.5127_5128delinsAG (p.Lys1709=) n.336-147534_336-147533delinsAG c.5115_5116delinsAG (p.Lys1705=) c.4770_4771delinsAG (p.Lys1590=) c.1116_1117delinsAG (p.Lys372=) c.5010_5011delinsAG (p.Lys1670=) | |
| X | g.32364597T>A | CA412671441 | DMD | c.5139A>T (p.Lys1713Asn) c.1107A>T (p.Lys369Asn) c.5127A>T (p.Lys1709Asn) n.336-147534A>T c.5115A>T (p.Lys1705Asn) c.4770A>T (p.Lys1590Asn) c.1116A>T (p.Lys372Asn) c.5010A>T (p.Lys1670Asn) | |
| X | g.32364597T>C | CA10378770 | DMD | c.5139A>G (p.Lys1713=) c.1107A>G (p.Lys369=) c.5127A>G (p.Lys1709=) n.336-147534A>G c.5115A>G (p.Lys1705=) c.4770A>G (p.Lys1590=) c.1116A>G (p.Lys372=) c.5010A>G (p.Lys1670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32364597T>G | CA10378769 | DMD | c.5139A>C (p.Lys1713Asn) c.1107A>C (p.Lys369Asn) c.5127A>C (p.Lys1709Asn) n.336-147534A>C c.5115A>C (p.Lys1705Asn) c.4770A>C (p.Lys1590Asn) c.1116A>C (p.Lys372Asn) c.5010A>C (p.Lys1670Asn) | dbSNP ExAC gnomAD v2 |
| X | g.32364597T= | CA2422769896 | DMD | c.5139A= (p.Lys1713=) c.1107A= (p.Lys369=) c.5127A= (p.Lys1709=) n.336-147534A= c.5115A= (p.Lys1705=) c.4770A= (p.Lys1590=) c.1116A= (p.Lys372=) c.5010A= (p.Lys1670=) | |
| X | g.32364601dup | CA2695234091 | DMD | c.5139dup (p.Glu1714ArgfsTer5) c.1107dup (p.Glu370ArgfsTer5) c.5127dup (p.Glu1710ArgfsTer5) n.336-147534dup c.5115dup (p.Glu1706ArgfsTer5) c.4770dup (p.Glu1591ArgfsTer5) c.1116dup (p.Glu373ArgfsTer5) c.5010dup (p.Glu1671ArgfsTer5) | |
| X | g.32364601del | CA658799691 | DMD | c.5139del (p.Glu1714LysfsTer7) c.1107del (p.Glu370LysfsTer7) c.5127del (p.Glu1710LysfsTer7) n.336-147534del c.5115del (p.Glu1706LysfsTer7) c.4770del (p.Glu1591LysfsTer7) c.1116del (p.Glu373LysfsTer7) c.5010del (p.Glu1671LysfsTer7) | ClinVar dbSNP |
| X | g.32364598T>A | CA412671442 | DMD | c.5138A>T (p.Lys1713Ile) c.1106A>T (p.Lys369Ile) c.5126A>T (p.Lys1709Ile) n.336-147535A>T c.5114A>T (p.Lys1705Ile) c.4769A>T (p.Lys1590Ile) c.1115A>T (p.Lys372Ile) c.5009A>T (p.Lys1670Ile) | |
| X | g.32364598T>C | CA412671444 | DMD | c.5138A>G (p.Lys1713Arg) c.1106A>G (p.Lys369Arg) c.5126A>G (p.Lys1709Arg) n.336-147535A>G c.5114A>G (p.Lys1705Arg) c.4769A>G (p.Lys1590Arg) c.1115A>G (p.Lys372Arg) c.5009A>G (p.Lys1670Arg) |