Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32364629C>A | CA412671515 | DMD | c.5107G>T (p.Asp1703Tyr) c.1075G>T (p.Asp359Tyr) c.5095G>T (p.Asp1699Tyr) n.336-147566G>T c.5083G>T (p.Asp1695Tyr) c.4738G>T (p.Asp1580Tyr) c.1084G>T (p.Asp362Tyr) c.4978G>T (p.Asp1660Tyr) | dbSNP |
X | g.32364629C>G | CA412671516 | DMD | c.5107G>C (p.Asp1703His) c.1075G>C (p.Asp359His) c.5095G>C (p.Asp1699His) n.336-147566G>C c.5083G>C (p.Asp1695His) c.4738G>C (p.Asp1580His) c.1084G>C (p.Asp362His) c.4978G>C (p.Asp1660His) | |
X | g.32364629C>T | CA412671517 | DMD | c.5107G>A (p.Asp1703Asn) c.1075G>A (p.Asp359Asn) c.5095G>A (p.Asp1699Asn) n.336-147566G>A c.5083G>A (p.Asp1695Asn) c.4738G>A (p.Asp1580Asn) c.1084G>A (p.Asp362Asn) c.4978G>A (p.Asp1660Asn) | ClinVar |
X | g.32364630C>A | CA412671518 | DMD | c.5106G>T (p.Leu1702Phe) c.1074G>T (p.Leu358Phe) c.5094G>T (p.Leu1698Phe) n.336-147567G>T c.5082G>T (p.Leu1694Phe) c.4737G>T (p.Leu1579Phe) c.1083G>T (p.Leu361Phe) c.4977G>T (p.Leu1659Phe) | |
X | g.32364630C>G | CA412671519 | DMD | c.5106G>C (p.Leu1702Phe) c.1074G>C (p.Leu358Phe) c.5094G>C (p.Leu1698Phe) n.336-147567G>C c.5082G>C (p.Leu1694Phe) c.4737G>C (p.Leu1579Phe) c.1083G>C (p.Leu361Phe) c.4977G>C (p.Leu1659Phe) | |
X | g.32364630C>T | CA515714704 | DMD | c.5106G>A (p.Leu1702=) c.1074G>A (p.Leu358=) c.5094G>A (p.Leu1698=) n.336-147567G>A c.5082G>A (p.Leu1694=) c.4737G>A (p.Leu1579=) c.1083G>A (p.Leu361=) c.4977G>A (p.Leu1659=) | |
X | g.32364631A>C | CA412671522 | DMD | c.5105T>G (p.Leu1702Trp) c.1073T>G (p.Leu358Trp) c.5093T>G (p.Leu1698Trp) n.336-147568T>G c.5081T>G (p.Leu1694Trp) c.4736T>G (p.Leu1579Trp) c.1082T>G (p.Leu361Trp) c.4976T>G (p.Leu1659Trp) | |
X | g.32364631A>G | CA412671520 | DMD | c.5105T>C (p.Leu1702Ser) c.1073T>C (p.Leu358Ser) c.5093T>C (p.Leu1698Ser) n.336-147568T>C c.5081T>C (p.Leu1694Ser) c.4736T>C (p.Leu1579Ser) c.1082T>C (p.Leu361Ser) c.4976T>C (p.Leu1659Ser) | |
X | g.32364631A>T | CA412671521 | DMD | c.5105T>A (p.Leu1702Ter) c.1073T>A (p.Leu358Ter) c.5093T>A (p.Leu1698Ter) n.336-147568T>A c.5081T>A (p.Leu1694Ter) c.4736T>A (p.Leu1579Ter) c.1082T>A (p.Leu361Ter) c.4976T>A (p.Leu1659Ter) | |
X | g.32364633_32364634del | CA2573158564 | DMD | c.5104_5105del (p.Leu1702GlyfsTer2) c.1072_1073del (p.Leu358GlyfsTer2) c.5092_5093del (p.Leu1698GlyfsTer2) n.336-147569_336-147568del c.5080_5081del (p.Leu1694GlyfsTer2) c.4735_4736del (p.Leu1579GlyfsTer2) c.1081_1082del (p.Leu361GlyfsTer2) c.4975_4976del (p.Leu1659GlyfsTer2) | ClinVar dbSNP |
X | g.32364632A= | CA2422769912 | DMD | c.5104T= (p.Leu1702=) c.1072T= (p.Leu358=) c.5092T= (p.Leu1698=) n.336-147569T= c.5080T= (p.Leu1694=) c.4735T= (p.Leu1579=) c.1081T= (p.Leu361=) c.4975T= (p.Leu1659=) | |
X | g.32364632A>C | CA412671523 | DMD | c.5104T>G (p.Leu1702Val) c.1072T>G (p.Leu358Val) c.5092T>G (p.Leu1698Val) n.336-147569T>G c.5080T>G (p.Leu1694Val) c.4735T>G (p.Leu1579Val) c.1081T>G (p.Leu361Val) c.4975T>G (p.Leu1659Val) | |
X | g.32364632A>G | CA10378775 | DMD | c.5104T>C (p.Leu1702=) c.1072T>C (p.Leu358=) c.5092T>C (p.Leu1698=) n.336-147569T>C c.5080T>C (p.Leu1694=) c.4735T>C (p.Leu1579=) c.1081T>C (p.Leu361=) c.4975T>C (p.Leu1659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32364632A>T | CA412671524 | DMD | c.5104T>A (p.Leu1702Met) c.1072T>A (p.Leu358Met) c.5092T>A (p.Leu1698Met) n.336-147569T>A c.5080T>A (p.Leu1694Met) c.4735T>A (p.Leu1579Met) c.1081T>A (p.Leu361Met) c.4975T>A (p.Leu1659Met) | |
X | g.32364633A>C | CA515714705 | DMD | c.5103T>G (p.Leu1701=) c.1071T>G (p.Leu357=) c.5091T>G (p.Leu1697=) n.336-147570T>G c.5079T>G (p.Leu1693=) c.4734T>G (p.Leu1578=) c.1080T>G (p.Leu360=) c.4974T>G (p.Leu1658=) | |
X | g.32364633A>G | CA515714706 | DMD | c.5103T>C (p.Leu1701=) c.1071T>C (p.Leu357=) c.5091T>C (p.Leu1697=) n.336-147570T>C c.5079T>C (p.Leu1693=) c.4734T>C (p.Leu1578=) c.1080T>C (p.Leu360=) c.4974T>C (p.Leu1658=) | |
X | g.32364633A>T | CA515714707 | DMD | c.5103T>A (p.Leu1701=) c.1071T>A (p.Leu357=) c.5091T>A (p.Leu1697=) n.336-147570T>A c.5079T>A (p.Leu1693=) c.4734T>A (p.Leu1578=) c.1080T>A (p.Leu360=) c.4974T>A (p.Leu1658=) | |
X | g.32364634A>C | CA412671525 | DMD | c.5102T>G (p.Leu1701Arg) c.1070T>G (p.Leu357Arg) c.5090T>G (p.Leu1697Arg) n.336-147571T>G c.5078T>G (p.Leu1693Arg) c.4733T>G (p.Leu1578Arg) c.1079T>G (p.Leu360Arg) c.4973T>G (p.Leu1658Arg) | |
X | g.32364634A>G | CA412671526 | DMD | c.5102T>C (p.Leu1701Pro) c.1070T>C (p.Leu357Pro) c.5090T>C (p.Leu1697Pro) n.336-147571T>C c.5078T>C (p.Leu1693Pro) c.4733T>C (p.Leu1578Pro) c.1079T>C (p.Leu360Pro) c.4973T>C (p.Leu1658Pro) | |
X | g.32364634A>T | CA412671527 | DMD | c.5102T>A (p.Leu1701His) c.1070T>A (p.Leu357His) c.5090T>A (p.Leu1697His) n.336-147571T>A c.5078T>A (p.Leu1693His) c.4733T>A (p.Leu1578His) c.1079T>A (p.Leu360His) c.4973T>A (p.Leu1658His) | |
X | g.32364634_32364636delinsAGT | CA2422769913 | DMD | c.5100_5102delinsACT (p.Thr1700=) c.1068_1070delinsACT (p.Thr356=) c.5088_5090delinsACT (p.Thr1696=) n.336-147573_336-147571delinsACT c.5076_5078delinsACT (p.Thr1692=) c.4731_4733delinsACT (p.Thr1577=) c.1077_1079delinsACT (p.Thr359=) c.4971_4973delinsACT (p.Thr1657=) | |
X | g.32364635del | CA2695234093 | DMD | c.5101del (p.Leu1701PhefsTer20) c.1069del (p.Leu357PhefsTer20) c.5089del (p.Leu1697PhefsTer20) n.336-147572del c.5077del (p.Leu1693PhefsTer20) c.4732del (p.Leu1578PhefsTer20) c.1078del (p.Leu360PhefsTer20) c.4972del (p.Leu1658PhefsTer20) | |
X | g.32364635G>A | CA412671528 | DMD | c.5101C>T (p.Leu1701Phe) c.1069C>T (p.Leu357Phe) c.5089C>T (p.Leu1697Phe) n.336-147572C>T c.5077C>T (p.Leu1693Phe) c.4732C>T (p.Leu1578Phe) c.1078C>T (p.Leu360Phe) c.4972C>T (p.Leu1658Phe) | COSMIC COSMIC COSMIC COSMIC |
X | g.32364635G>C | CA412671529 | DMD | c.5101C>G (p.Leu1701Val) c.1069C>G (p.Leu357Val) c.5089C>G (p.Leu1697Val) n.336-147572C>G c.5077C>G (p.Leu1693Val) c.4732C>G (p.Leu1578Val) c.1078C>G (p.Leu360Val) c.4972C>G (p.Leu1658Val) | |
X | g.32364635G>T | CA412671530 | DMD | c.5101C>A (p.Leu1701Ile) c.1069C>A (p.Leu357Ile) c.5089C>A (p.Leu1697Ile) n.336-147572C>A c.5077C>A (p.Leu1693Ile) c.4732C>A (p.Leu1578Ile) c.1078C>A (p.Leu360Ile) c.4972C>A (p.Leu1658Ile) | |
X | g.32364639_32364640del | CA16616678 | DMD | c.5100_5101del (p.Leu1701PhefsTer3) c.1068_1069del (p.Leu357PhefsTer3) c.5088_5089del (p.Leu1697PhefsTer3) n.336-147573_336-147572del c.5076_5077del (p.Leu1693PhefsTer3) c.4731_4732del (p.Leu1578PhefsTer3) c.1077_1078del (p.Leu360PhefsTer3) c.4971_4972del (p.Leu1658PhefsTer3) | ClinVar dbSNP |
X | g.32364636T>A | CA515714710 | DMD | c.5100A>T (p.Thr1700=) c.1068A>T (p.Thr356=) c.5088A>T (p.Thr1696=) n.336-147573A>T c.5076A>T (p.Thr1692=) c.4731A>T (p.Thr1577=) c.1077A>T (p.Thr359=) c.4971A>T (p.Thr1657=) | |
X | g.32364636T>C | CA515714709 | DMD | c.5100A>G (p.Thr1700=) c.1068A>G (p.Thr356=) c.5088A>G (p.Thr1696=) n.336-147573A>G c.5076A>G (p.Thr1692=) c.4731A>G (p.Thr1577=) c.1077A>G (p.Thr359=) c.4971A>G (p.Thr1657=) | ClinVar dbSNP |
X | g.32364636T>G | CA515714708 | DMD | c.5100A>C (p.Thr1700=) c.1068A>C (p.Thr356=) c.5088A>C (p.Thr1696=) n.336-147573A>C c.5076A>C (p.Thr1692=) c.4731A>C (p.Thr1577=) c.1077A>C (p.Thr359=) c.4971A>C (p.Thr1657=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32364636T= | CA2422769914 | DMD | c.5100A= (p.Thr1700=) c.1068A= (p.Thr356=) c.5088A= (p.Thr1696=) n.336-147573A= c.5076A= (p.Thr1692=) c.4731A= (p.Thr1577=) c.1077A= (p.Thr359=) c.4971A= (p.Thr1657=) | |
X | g.32364637G>A | CA412671533 | DMD | c.5099C>T (p.Thr1700Ile) c.1067C>T (p.Thr356Ile) c.5087C>T (p.Thr1696Ile) n.336-147574C>T c.5075C>T (p.Thr1692Ile) c.4730C>T (p.Thr1577Ile) c.1076C>T (p.Thr359Ile) c.4970C>T (p.Thr1657Ile) | |
X | g.32364637G>C | CA412671532 | DMD | c.5099C>G (p.Thr1700Arg) c.1067C>G (p.Thr356Arg) c.5087C>G (p.Thr1696Arg) n.336-147574C>G c.5075C>G (p.Thr1692Arg) c.4730C>G (p.Thr1577Arg) c.1076C>G (p.Thr359Arg) c.4970C>G (p.Thr1657Arg) | |
X | g.32364637G>T | CA412671531 | DMD | c.5099C>A (p.Thr1700Lys) c.1067C>A (p.Thr356Lys) c.5087C>A (p.Thr1696Lys) n.336-147574C>A c.5075C>A (p.Thr1692Lys) c.4730C>A (p.Thr1577Lys) c.1076C>A (p.Thr359Lys) c.4970C>A (p.Thr1657Lys) | |
X | g.32364637_32364639delinsGTG | CA2422769915 | DMD | c.5097_5099delinsCAC (p.Asp1699=) c.1065_1067delinsCAC (p.Asp355=) c.5085_5087delinsCAC (p.Asp1695=) n.336-147576_336-147574delinsCAC c.5073_5075delinsCAC (p.Asp1691=) c.4728_4730delinsCAC (p.Asp1576=) c.1074_1076delinsCAC (p.Asp358=) c.4968_4970delinsCAC (p.Asp1656=) | |
X | g.32364638T>A | CA412671534 | DMD | c.5098A>T (p.Thr1700Ser) c.1066A>T (p.Thr356Ser) c.5086A>T (p.Thr1696Ser) n.336-147575A>T c.5074A>T (p.Thr1692Ser) c.4729A>T (p.Thr1577Ser) c.1075A>T (p.Thr359Ser) c.4969A>T (p.Thr1657Ser) | |
X | g.32364638T>C | CA412671535 | DMD | c.5098A>G (p.Thr1700Ala) c.1066A>G (p.Thr356Ala) c.5086A>G (p.Thr1696Ala) n.336-147575A>G c.5074A>G (p.Thr1692Ala) c.4729A>G (p.Thr1577Ala) c.1075A>G (p.Thr359Ala) c.4969A>G (p.Thr1657Ala) | |
X | g.32364638T>G | CA412671536 | DMD | c.5098A>C (p.Thr1700Pro) c.1066A>C (p.Thr356Pro) c.5086A>C (p.Thr1696Pro) n.336-147575A>C c.5074A>C (p.Thr1692Pro) c.4729A>C (p.Thr1577Pro) c.1075A>C (p.Thr359Pro) c.4969A>C (p.Thr1657Pro) | |
X | g.32364638_32364639delinsAATGAATTCATTCAT | CA327995214 | DMD | c.5097_5098delinsATGAATGAATTCATT (p.Asp1699GlufsTer2) c.1065_1066delinsATGAATGAATTCATT (p.Asp355GlufsTer2) c.5085_5086delinsATGAATGAATTCATT (p.Asp1695GlufsTer2) n.336-147576_336-147575delinsATGAATGAATTCATT c.5073_5074delinsATGAATGAATTCATT (p.Asp1691GlufsTer2) c.4728_4729delinsATGAATGAATTCATT (p.Asp1576GlufsTer2) c.1074_1075delinsATGAATGAATTCATT (p.Asp358GlufsTer2) c.4968_4969delinsATGAATGAATTCATT (p.Asp1656GlufsTer2) | ClinVar dbSNP |
X | g.32364639G>A | CA515714711 | DMD | c.5097C>T (p.Asp1699=) c.1065C>T (p.Asp355=) c.5085C>T (p.Asp1695=) n.336-147576C>T c.5073C>T (p.Asp1691=) c.4728C>T (p.Asp1576=) c.1074C>T (p.Asp358=) c.4968C>T (p.Asp1656=) | |
X | g.32364639G>C | CA412671537 | DMD | c.5097C>G (p.Asp1699Glu) c.1065C>G (p.Asp355Glu) c.5085C>G (p.Asp1695Glu) n.336-147576C>G c.5073C>G (p.Asp1691Glu) c.4728C>G (p.Asp1576Glu) c.1074C>G (p.Asp358Glu) c.4968C>G (p.Asp1656Glu) | |
X | g.32364639G= | CA2422769916 | DMD | c.5097C= (p.Asp1699=) c.1065C= (p.Asp355=) c.5085C= (p.Asp1695=) n.336-147576C= c.5073C= (p.Asp1691=) c.4728C= (p.Asp1576=) c.1074C= (p.Asp358=) c.4968C= (p.Asp1656=) | |
X | g.32364639G>T | CA308355 | DMD | c.5097C>A (p.Asp1699Glu) c.1065C>A (p.Asp355Glu) c.5085C>A (p.Asp1695Glu) n.336-147576C>A c.5073C>A (p.Asp1691Glu) c.4728C>A (p.Asp1576Glu) c.1074C>A (p.Asp358Glu) c.4968C>A (p.Asp1656Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32364639dup | CA2695234094 | DMD | c.5097dup (p.Thr1700HisfsTer5) c.1065dup (p.Thr356HisfsTer5) c.5085dup (p.Thr1696HisfsTer5) n.336-147576dup c.5073dup (p.Thr1692HisfsTer5) c.4728dup (p.Thr1577HisfsTer5) c.1074dup (p.Thr359HisfsTer5) c.4968dup (p.Thr1657HisfsTer5) | |
X | g.32364640T>A | CA412671538 | DMD | c.5096A>T (p.Asp1699Val) c.1064A>T (p.Asp355Val) c.5084A>T (p.Asp1695Val) n.336-147577A>T c.5072A>T (p.Asp1691Val) c.4727A>T (p.Asp1576Val) c.1073A>T (p.Asp358Val) c.4967A>T (p.Asp1656Val) | |
X | g.32364640T>C | CA412671539 | DMD | c.5096A>G (p.Asp1699Gly) c.1064A>G (p.Asp355Gly) c.5084A>G (p.Asp1695Gly) n.336-147577A>G c.5072A>G (p.Asp1691Gly) c.4727A>G (p.Asp1576Gly) c.1073A>G (p.Asp358Gly) c.4967A>G (p.Asp1656Gly) | gnomAD v4 |
X | g.32364640T>G | CA412671540 | DMD | c.5096A>C (p.Asp1699Ala) c.1064A>C (p.Asp355Ala) c.5084A>C (p.Asp1695Ala) n.336-147577A>C c.5072A>C (p.Asp1691Ala) c.4727A>C (p.Asp1576Ala) c.1073A>C (p.Asp358Ala) c.4967A>C (p.Asp1656Ala) | |
X | g.32364641C>A | CA412671541 | DMD | c.5095G>T (p.Asp1699Tyr) c.1063G>T (p.Asp355Tyr) c.5083G>T (p.Asp1695Tyr) n.336-147578G>T c.5071G>T (p.Asp1691Tyr) c.4726G>T (p.Asp1576Tyr) c.1072G>T (p.Asp358Tyr) c.4966G>T (p.Asp1656Tyr) | |
X | g.32364641C>G | CA412671542 | DMD | c.5095G>C (p.Asp1699His) c.1063G>C (p.Asp355His) c.5083G>C (p.Asp1695His) n.336-147578G>C c.5071G>C (p.Asp1691His) c.4726G>C (p.Asp1576His) c.1072G>C (p.Asp358His) c.4966G>C (p.Asp1656His) | |
X | g.32364641C>T | CA412671543 | DMD | c.5095G>A (p.Asp1699Asn) c.1063G>A (p.Asp355Asn) c.5083G>A (p.Asp1695Asn) n.336-147578G>A c.5071G>A (p.Asp1691Asn) c.4726G>A (p.Asp1576Asn) c.1072G>A (p.Asp358Asn) c.4966G>A (p.Asp1656Asn) | COSMIC COSMIC COSMIC COSMIC |
X | g.32364642A= | CA2422769917 | DMD | c.5094T= (p.Ala1698=) c.1062T= (p.Ala354=) c.5082T= (p.Ala1694=) n.336-147579T= c.5070T= (p.Ala1690=) c.4725T= (p.Ala1575=) c.1071T= (p.Ala357=) c.4965T= (p.Ala1655=) | |
X | g.32364642A>C | CA515714712 | DMD | c.5094T>G (p.Ala1698=) c.1062T>G (p.Ala354=) c.5082T>G (p.Ala1694=) n.336-147579T>G c.5070T>G (p.Ala1690=) c.4725T>G (p.Ala1575=) c.1071T>G (p.Ala357=) c.4965T>G (p.Ala1655=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.32364642A>G | CA515714713 | DMD | c.5094T>C (p.Ala1698=) c.1062T>C (p.Ala354=) c.5082T>C (p.Ala1694=) n.336-147579T>C c.5070T>C (p.Ala1690=) c.4725T>C (p.Ala1575=) c.1071T>C (p.Ala357=) c.4965T>C (p.Ala1655=) | ClinVar |
X | g.32364642A>T | CA515714714 | DMD | c.5094T>A (p.Ala1698=) c.1062T>A (p.Ala354=) c.5082T>A (p.Ala1694=) n.336-147579T>A c.5070T>A (p.Ala1690=) c.4725T>A (p.Ala1575=) c.1071T>A (p.Ala357=) c.4965T>A (p.Ala1655=) | |
X | g.32364643G>A | CA412671546 | DMD | c.5093C>T (p.Ala1698Val) c.1061C>T (p.Ala354Val) c.5081C>T (p.Ala1694Val) n.336-147580C>T c.5069C>T (p.Ala1690Val) c.4724C>T (p.Ala1575Val) c.1070C>T (p.Ala357Val) c.4964C>T (p.Ala1655Val) | ClinVar dbSNP gnomAD v4 |
X | g.32364643G>C | CA412671545 | DMD | c.5093C>G (p.Ala1698Gly) c.1061C>G (p.Ala354Gly) c.5081C>G (p.Ala1694Gly) n.336-147580C>G c.5069C>G (p.Ala1690Gly) c.4724C>G (p.Ala1575Gly) c.1070C>G (p.Ala357Gly) c.4964C>G (p.Ala1655Gly) | gnomAD v4 |
X | g.32364643G= | CA2422769918 | DMD | c.5093C= (p.Ala1698=) c.1061C= (p.Ala354=) c.5081C= (p.Ala1694=) n.336-147580C= c.5069C= (p.Ala1690=) c.4724C= (p.Ala1575=) c.1070C= (p.Ala357=) c.4964C= (p.Ala1655=) | |
X | g.32364643G>T | CA412671544 | DMD | c.5093C>A (p.Ala1698Asp) c.1061C>A (p.Ala354Asp) c.5081C>A (p.Ala1694Asp) n.336-147580C>A c.5069C>A (p.Ala1690Asp) c.4724C>A (p.Ala1575Asp) c.1070C>A (p.Ala357Asp) c.4964C>A (p.Ala1655Asp) | COSMIC COSMIC COSMIC |
X | g.32364644C>A | CA412671547 | DMD | c.5092G>T (p.Ala1698Ser) c.1060G>T (p.Ala354Ser) c.5080G>T (p.Ala1694Ser) n.336-147581G>T c.5068G>T (p.Ala1690Ser) c.4723G>T (p.Ala1575Ser) c.1069G>T (p.Ala357Ser) c.4963G>T (p.Ala1655Ser) | |
X | g.32364644C>G | CA412671548 | DMD | c.5092G>C (p.Ala1698Pro) c.1060G>C (p.Ala354Pro) c.5080G>C (p.Ala1694Pro) n.336-147581G>C c.5068G>C (p.Ala1690Pro) c.4723G>C (p.Ala1575Pro) c.1069G>C (p.Ala357Pro) c.4963G>C (p.Ala1655Pro) | |
X | g.32364644C>T | CA412671549 | DMD | c.5092G>A (p.Ala1698Thr) c.1060G>A (p.Ala354Thr) c.5080G>A (p.Ala1694Thr) n.336-147581G>A c.5068G>A (p.Ala1690Thr) c.4723G>A (p.Ala1575Thr) c.1069G>A (p.Ala357Thr) c.4963G>A (p.Ala1655Thr) | gnomAD v4 |
X | g.32364645del | CA2695234095 | DMD | c.5092del (p.Ala1698LeufsTer23) c.1060del (p.Ala354LeufsTer23) c.5080del (p.Ala1694LeufsTer23) n.336-147581del c.5068del (p.Ala1690LeufsTer23) c.4723del (p.Ala1575LeufsTer23) c.1069del (p.Ala357LeufsTer23) c.4963del (p.Ala1655LeufsTer23) | |
X | g.32364645C>A | CA10378776 | DMD | c.5091G>T (p.Gln1697His) c.1059G>T (p.Gln353His) c.5079G>T (p.Gln1693His) n.336-147582G>T c.5067G>T (p.Gln1689His) c.4722G>T (p.Gln1574His) c.1068G>T (p.Gln356His) c.4962G>T (p.Gln1654His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364645C= | CA2422769919 | DMD | c.5091G= (p.Gln1697=) c.1059G= (p.Gln353=) c.5079G= (p.Gln1693=) n.336-147582G= c.5067G= (p.Gln1689=) c.4722G= (p.Gln1574=) c.1068G= (p.Gln356=) c.4962G= (p.Gln1654=) | |
X | g.32364645C>G | CA412671550 | DMD | c.5091G>C (p.Gln1697His) c.1059G>C (p.Gln353His) c.5079G>C (p.Gln1693His) n.336-147582G>C c.5067G>C (p.Gln1689His) c.4722G>C (p.Gln1574His) c.1068G>C (p.Gln356His) c.4962G>C (p.Gln1654His) | dbSNP COSMIC COSMIC COSMIC COSMIC |
X | g.32364645C>T | CA515714715 | DMD | c.5091G>A (p.Gln1697=) c.1059G>A (p.Gln353=) c.5079G>A (p.Gln1693=) n.336-147582G>A c.5067G>A (p.Gln1689=) c.4722G>A (p.Gln1574=) c.1068G>A (p.Gln356=) c.4962G>A (p.Gln1654=) | |
X | g.32364646T>A | CA412671551 | DMD | c.5090A>T (p.Gln1697Leu) c.1058A>T (p.Gln353Leu) c.5078A>T (p.Gln1693Leu) n.336-147583A>T c.5066A>T (p.Gln1689Leu) c.4721A>T (p.Gln1574Leu) c.1067A>T (p.Gln356Leu) c.4961A>T (p.Gln1654Leu) | |
X | g.32364646T>C | CA412671552 | DMD | c.5090A>G (p.Gln1697Arg) c.1058A>G (p.Gln353Arg) c.5078A>G (p.Gln1693Arg) n.336-147583A>G c.5066A>G (p.Gln1689Arg) c.4721A>G (p.Gln1574Arg) c.1067A>G (p.Gln356Arg) c.4961A>G (p.Gln1654Arg) | |
X | g.32364646T>G | CA412671553 | DMD | c.5090A>C (p.Gln1697Pro) c.1058A>C (p.Gln353Pro) c.5078A>C (p.Gln1693Pro) n.336-147583A>C c.5066A>C (p.Gln1689Pro) c.4721A>C (p.Gln1574Pro) c.1067A>C (p.Gln356Pro) c.4961A>C (p.Gln1654Pro) | COSMIC COSMIC COSMIC COSMIC |
X | g.32364647G>A | CA10604112 | DMD | c.5089C>T (p.Gln1697Ter) c.1057C>T (p.Gln353Ter) c.5077C>T (p.Gln1693Ter) n.336-147584C>T c.5065C>T (p.Gln1689Ter) c.4720C>T (p.Gln1574Ter) c.1066C>T (p.Gln356Ter) c.4960C>T (p.Gln1654Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
X | g.32364647G>C | CA412671554 | DMD | c.5089C>G (p.Gln1697Glu) c.1057C>G (p.Gln353Glu) c.5077C>G (p.Gln1693Glu) n.336-147584C>G c.5065C>G (p.Gln1689Glu) c.4720C>G (p.Gln1574Glu) c.1066C>G (p.Gln356Glu) c.4960C>G (p.Gln1654Glu) | |
X | g.32364647G= | CA2422769920 | DMD | c.5089C= (p.Gln1697=) c.1057C= (p.Gln353=) c.5077C= (p.Gln1693=) n.336-147584C= c.5065C= (p.Gln1689=) c.4720C= (p.Gln1574=) c.1066C= (p.Gln356=) c.4960C= (p.Gln1654=) | |
X | g.32364647G>T | CA412671555 | DMD | c.5089C>A (p.Gln1697Lys) c.1057C>A (p.Gln353Lys) c.5077C>A (p.Gln1693Lys) n.336-147584C>A c.5065C>A (p.Gln1689Lys) c.4720C>A (p.Gln1574Lys) c.1066C>A (p.Gln356Lys) c.4960C>A (p.Gln1654Lys) | |
X | g.32364648A>C | CA412671556 | DMD | c.5088T>G (p.Ile1696Met) c.1056T>G (p.Ile352Met) c.5076T>G (p.Ile1692Met) n.336-147585T>G c.5064T>G (p.Ile1688Met) c.4719T>G (p.Ile1573Met) c.1065T>G (p.Ile355Met) c.4959T>G (p.Ile1653Met) | |
X | g.32364648A>G | CA515714716 | DMD | c.5088T>C (p.Ile1696=) c.1056T>C (p.Ile352=) c.5076T>C (p.Ile1692=) n.336-147585T>C c.5064T>C (p.Ile1688=) c.4719T>C (p.Ile1573=) c.1065T>C (p.Ile355=) c.4959T>C (p.Ile1653=) | |
X | g.32364648A>T | CA515714717 | DMD | c.5088T>A (p.Ile1696=) c.1056T>A (p.Ile352=) c.5076T>A (p.Ile1692=) n.336-147585T>A c.5064T>A (p.Ile1688=) c.4719T>A (p.Ile1573=) c.1065T>A (p.Ile355=) c.4959T>A (p.Ile1653=) | |
X | g.32364649A>C | CA412671558 | DMD | c.5087T>G (p.Ile1696Ser) c.1055T>G (p.Ile352Ser) c.5075T>G (p.Ile1692Ser) n.336-147586T>G c.5063T>G (p.Ile1688Ser) c.4718T>G (p.Ile1573Ser) c.1064T>G (p.Ile355Ser) c.4958T>G (p.Ile1653Ser) | |
X | g.32364649A>G | CA412671559 | DMD | c.5087T>C (p.Ile1696Thr) c.1055T>C (p.Ile352Thr) c.5075T>C (p.Ile1692Thr) n.336-147586T>C c.5063T>C (p.Ile1688Thr) c.4718T>C (p.Ile1573Thr) c.1064T>C (p.Ile355Thr) c.4958T>C (p.Ile1653Thr) | |
X | g.32364649A>T | CA412671557 | DMD | c.5087T>A (p.Ile1696Asn) c.1055T>A (p.Ile352Asn) c.5075T>A (p.Ile1692Asn) n.336-147586T>A c.5063T>A (p.Ile1688Asn) c.4718T>A (p.Ile1573Asn) c.1064T>A (p.Ile355Asn) c.4958T>A (p.Ile1653Asn) | |
X | g.32364650del | CA2695234096 | DMD | c.5086del (p.Ile1696PhefsTer25) c.1054del (p.Ile352PhefsTer25) c.5074del (p.Ile1692PhefsTer25) n.336-147587del c.5062del (p.Ile1688PhefsTer25) c.4717del (p.Ile1573PhefsTer25) c.1063del (p.Ile355PhefsTer25) c.4957del (p.Ile1653PhefsTer25) | |
X | g.32364650T>A | CA327995224 | DMD | c.5086A>T (p.Ile1696Phe) c.1054A>T (p.Ile352Phe) c.5074A>T (p.Ile1692Phe) n.336-147587A>T c.5062A>T (p.Ile1688Phe) c.4717A>T (p.Ile1573Phe) c.1063A>T (p.Ile355Phe) c.4957A>T (p.Ile1653Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.32364650T>C | CA412671560 | DMD | c.5086A>G (p.Ile1696Val) c.1054A>G (p.Ile352Val) c.5074A>G (p.Ile1692Val) n.336-147587A>G c.5062A>G (p.Ile1688Val) c.4717A>G (p.Ile1573Val) c.1063A>G (p.Ile355Val) c.4957A>G (p.Ile1653Val) | |
X | g.32364650T>G | CA412671561 | DMD | c.5086A>C (p.Ile1696Leu) c.1054A>C (p.Ile352Leu) c.5074A>C (p.Ile1692Leu) n.336-147587A>C c.5062A>C (p.Ile1688Leu) c.4717A>C (p.Ile1573Leu) c.1063A>C (p.Ile355Leu) c.4957A>C (p.Ile1653Leu) | |
X | g.32364650T= | CA2422769921 | DMD | c.5086A= (p.Ile1696=) c.1054A= (p.Ile352=) c.5074A= (p.Ile1692=) n.336-147587A= c.5062A= (p.Ile1688=) c.4717A= (p.Ile1573=) c.1063A= (p.Ile355=) c.4957A= (p.Ile1653=) | |
X | g.32364651G>A | CA515714718 | DMD | c.5085C>T (p.Ile1695=) c.1053C>T (p.Ile351=) c.5073C>T (p.Ile1691=) n.336-147588C>T c.5061C>T (p.Ile1687=) c.4716C>T (p.Ile1572=) c.1062C>T (p.Ile354=) c.4956C>T (p.Ile1652=) | ClinVar |
X | g.32364651G>C | CA412671562 | DMD | c.5085C>G (p.Ile1695Met) c.1053C>G (p.Ile351Met) c.5073C>G (p.Ile1691Met) n.336-147588C>G c.5061C>G (p.Ile1687Met) c.4716C>G (p.Ile1572Met) c.1062C>G (p.Ile354Met) c.4956C>G (p.Ile1652Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32364651G= | CA2422769922 | DMD | c.5085C= (p.Ile1695=) c.1053C= (p.Ile351=) c.5073C= (p.Ile1691=) n.336-147588C= c.5061C= (p.Ile1687=) c.4716C= (p.Ile1572=) c.1062C= (p.Ile354=) c.4956C= (p.Ile1652=) | |
X | g.32364651G>T | CA515714719 | DMD | c.5085C>A (p.Ile1695=) c.1053C>A (p.Ile351=) c.5073C>A (p.Ile1691=) n.336-147588C>A c.5061C>A (p.Ile1687=) c.4716C>A (p.Ile1572=) c.1062C>A (p.Ile354=) c.4956C>A (p.Ile1652=) | |
X | g.32364652A= | CA2422769923 | DMD | c.5084T= (p.Ile1695=) c.1052T= (p.Ile351=) c.5072T= (p.Ile1691=) n.336-147589T= c.5060T= (p.Ile1687=) c.4715T= (p.Ile1572=) c.1061T= (p.Ile354=) c.4955T= (p.Ile1652=) | |
X | g.32364652A>C | CA412671563 | DMD | c.5084T>G (p.Ile1695Ser) c.1052T>G (p.Ile351Ser) c.5072T>G (p.Ile1691Ser) n.336-147589T>G c.5060T>G (p.Ile1687Ser) c.4715T>G (p.Ile1572Ser) c.1061T>G (p.Ile354Ser) c.4955T>G (p.Ile1652Ser) | |
X | g.32364652A>G | CA412671564 | DMD | c.5084T>C (p.Ile1695Thr) c.1052T>C (p.Ile351Thr) c.5072T>C (p.Ile1691Thr) n.336-147589T>C c.5060T>C (p.Ile1687Thr) c.4715T>C (p.Ile1572Thr) c.1061T>C (p.Ile354Thr) c.4955T>C (p.Ile1652Thr) | |
X | g.32364652A>T | CA412671565 | DMD | c.5084T>A (p.Ile1695Asn) c.1052T>A (p.Ile351Asn) c.5072T>A (p.Ile1691Asn) n.336-147589T>A c.5060T>A (p.Ile1687Asn) c.4715T>A (p.Ile1572Asn) c.1061T>A (p.Ile354Asn) c.4955T>A (p.Ile1652Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32364653T>A | CA412671566 | DMD | c.5083A>T (p.Ile1695Phe) c.1051A>T (p.Ile351Phe) c.5071A>T (p.Ile1691Phe) n.336-147590A>T c.5059A>T (p.Ile1687Phe) c.4714A>T (p.Ile1572Phe) c.1060A>T (p.Ile354Phe) c.4954A>T (p.Ile1652Phe) | |
X | g.32364653T>C | CA412671567 | DMD | c.5083A>G (p.Ile1695Val) c.1051A>G (p.Ile351Val) c.5071A>G (p.Ile1691Val) n.336-147590A>G c.5059A>G (p.Ile1687Val) c.4714A>G (p.Ile1572Val) c.1060A>G (p.Ile354Val) c.4954A>G (p.Ile1652Val) | gnomAD v4 |
X | g.32364653T>G | CA412671568 | DMD | c.5083A>C (p.Ile1695Leu) c.1051A>C (p.Ile351Leu) c.5071A>C (p.Ile1691Leu) n.336-147590A>C c.5059A>C (p.Ile1687Leu) c.4714A>C (p.Ile1572Leu) c.1060A>C (p.Ile354Leu) c.4954A>C (p.Ile1652Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32364653T= | CA2422769924 | DMD | c.5083A= (p.Ile1695=) c.1051A= (p.Ile351=) c.5071A= (p.Ile1691=) n.336-147590A= c.5059A= (p.Ile1687=) c.4714A= (p.Ile1572=) c.1060A= (p.Ile354=) c.4954A= (p.Ile1652=) | |
X | g.32364654C>A | CA412671569 | DMD | c.5082G>T (p.Trp1694Cys) c.1050G>T (p.Trp350Cys) c.5070G>T (p.Trp1690Cys) n.336-147591G>T c.5058G>T (p.Trp1686Cys) c.4713G>T (p.Trp1571Cys) c.1059G>T (p.Trp353Cys) c.4953G>T (p.Trp1651Cys) | ClinVar dbSNP gnomAD v4 |
X | g.32364654C= | CA2422769925 | DMD | c.5082G= (p.Trp1694=) c.1050G= (p.Trp350=) c.5070G= (p.Trp1690=) n.336-147591G= c.5058G= (p.Trp1686=) c.4713G= (p.Trp1571=) c.1059G= (p.Trp353=) c.4953G= (p.Trp1651=) | |
X | g.32364654C>G | CA412671570 | DMD | c.5082G>C (p.Trp1694Cys) c.1050G>C (p.Trp350Cys) c.5070G>C (p.Trp1690Cys) n.336-147591G>C c.5058G>C (p.Trp1686Cys) c.4713G>C (p.Trp1571Cys) c.1059G>C (p.Trp353Cys) c.4953G>C (p.Trp1651Cys) | |
X | g.32364654C>T | CA412671571 | DMD | c.5082G>A (p.Trp1694Ter) c.1050G>A (p.Trp350Ter) c.5070G>A (p.Trp1690Ter) n.336-147591G>A c.5058G>A (p.Trp1686Ter) c.4713G>A (p.Trp1571Ter) c.1059G>A (p.Trp353Ter) c.4953G>A (p.Trp1651Ter) | ClinVar dbSNP |
X | g.32364655C>A | CA412671574 | DMD | c.5081G>T (p.Trp1694Leu) c.1049G>T (p.Trp350Leu) c.5069G>T (p.Trp1690Leu) n.336-147592G>T c.5057G>T (p.Trp1686Leu) c.4712G>T (p.Trp1571Leu) c.1058G>T (p.Trp353Leu) c.4952G>T (p.Trp1651Leu) | |
X | g.32364655C>G | CA412671573 | DMD | c.5081G>C (p.Trp1694Ser) c.1049G>C (p.Trp350Ser) c.5069G>C (p.Trp1690Ser) n.336-147592G>C c.5057G>C (p.Trp1686Ser) c.4712G>C (p.Trp1571Ser) c.1058G>C (p.Trp353Ser) c.4952G>C (p.Trp1651Ser) | |
X | g.32364655C>T | CA412671572 | DMD | c.5081G>A (p.Trp1694Ter) c.1049G>A (p.Trp350Ter) c.5069G>A (p.Trp1690Ter) n.336-147592G>A c.5057G>A (p.Trp1686Ter) c.4712G>A (p.Trp1571Ter) c.1058G>A (p.Trp353Ter) c.4952G>A (p.Trp1651Ter) | ClinVar |
X | g.32364656A>C | CA412671575 | DMD | c.5080T>G (p.Trp1694Gly) c.1048T>G (p.Trp350Gly) c.5068T>G (p.Trp1690Gly) n.336-147593T>G c.5056T>G (p.Trp1686Gly) c.4711T>G (p.Trp1571Gly) c.1057T>G (p.Trp353Gly) c.4951T>G (p.Trp1651Gly) | |
X | g.32364656A>G | CA412671576 | DMD | c.5080T>C (p.Trp1694Arg) c.1048T>C (p.Trp350Arg) c.5068T>C (p.Trp1690Arg) n.336-147593T>C c.5056T>C (p.Trp1686Arg) c.4711T>C (p.Trp1571Arg) c.1057T>C (p.Trp353Arg) c.4951T>C (p.Trp1651Arg) | |
X | g.32364656A>T | CA412671577 | DMD | c.5080T>A (p.Trp1694Arg) c.1048T>A (p.Trp350Arg) c.5068T>A (p.Trp1690Arg) n.336-147593T>A c.5056T>A (p.Trp1686Arg) c.4711T>A (p.Trp1571Arg) c.1057T>A (p.Trp353Arg) c.4951T>A (p.Trp1651Arg) | |
X | g.32364657C>A | CA412671578 | DMD | c.5079G>T (p.Lys1693Asn) c.1047G>T (p.Lys349Asn) c.5067G>T (p.Lys1689Asn) n.336-147594G>T c.5055G>T (p.Lys1685Asn) c.4710G>T (p.Lys1570Asn) c.1056G>T (p.Lys352Asn) c.4950G>T (p.Lys1650Asn) | |
X | g.32364657C>G | CA412671579 | DMD | c.5079G>C (p.Lys1693Asn) c.1047G>C (p.Lys349Asn) c.5067G>C (p.Lys1689Asn) n.336-147594G>C c.5055G>C (p.Lys1685Asn) c.4710G>C (p.Lys1570Asn) c.1056G>C (p.Lys352Asn) c.4950G>C (p.Lys1650Asn) | |
X | g.32364657C>T | CA515714720 | DMD | c.5079G>A (p.Lys1693=) c.1047G>A (p.Lys349=) c.5067G>A (p.Lys1689=) n.336-147594G>A c.5055G>A (p.Lys1685=) c.4710G>A (p.Lys1570=) c.1056G>A (p.Lys352=) c.4950G>A (p.Lys1650=) | |
X | g.32364658_32364659insGTACAATTTGGACATTACTTTTCATATTTTATTTGCTACCTTAAGCACGTCTTCT | CA2697552968 | DMD | c.5079_5080insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG (p.Trp1694LysfsTer6) c.1047_1048insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG (p.Trp350LysfsTer6) c.5067_5068insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG (p.Trp1690LysfsTer6) n.336-147594_336-147593insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG c.5055_5056insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG (p.Trp1686LysfsTer6) c.4710_4711insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG (p.Trp1571LysfsTer6) c.1056_1057insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG (p.Trp353LysfsTer6) c.4950_4951insAAGACGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG (p.Trp1651LysfsTer6) | ClinVar |
X | g.32364658T>A | CA412671580 | DMD | c.5078A>T (p.Lys1693Met) c.1046A>T (p.Lys349Met) c.5066A>T (p.Lys1689Met) n.336-147595A>T c.5054A>T (p.Lys1685Met) c.4709A>T (p.Lys1570Met) c.1055A>T (p.Lys352Met) c.4949A>T (p.Lys1650Met) | gnomAD v4 |
X | g.32364658T>C | CA412671581 | DMD | c.5078A>G (p.Lys1693Arg) c.1046A>G (p.Lys349Arg) c.5066A>G (p.Lys1689Arg) n.336-147595A>G c.5054A>G (p.Lys1685Arg) c.4709A>G (p.Lys1570Arg) c.1055A>G (p.Lys352Arg) c.4949A>G (p.Lys1650Arg) | |
X | g.32364658T>G | CA412671582 | DMD | c.5078A>C (p.Lys1693Thr) c.1046A>C (p.Lys349Thr) c.5066A>C (p.Lys1689Thr) n.336-147595A>C c.5054A>C (p.Lys1685Thr) c.4709A>C (p.Lys1570Thr) c.1055A>C (p.Lys352Thr) c.4949A>C (p.Lys1650Thr) | |
X | g.32364660del | CA2573158565 | DMD | c.5078del (p.Lys1693SerfsTer28) c.1046del (p.Lys349SerfsTer28) c.5066del (p.Lys1689SerfsTer28) n.336-147595del c.5054del (p.Lys1685SerfsTer28) c.4709del (p.Lys1570SerfsTer28) c.1055del (p.Lys352SerfsTer28) c.4949del (p.Lys1650SerfsTer28) | ClinVar dbSNP |
X | g.32364659T>A | CA412671583 | DMD | c.5077A>T (p.Lys1693Ter) c.1045A>T (p.Lys349Ter) c.5065A>T (p.Lys1689Ter) n.336-147596A>T c.5053A>T (p.Lys1685Ter) c.4708A>T (p.Lys1570Ter) c.1054A>T (p.Lys352Ter) c.4948A>T (p.Lys1650Ter) | |
X | g.32364659T>C | CA412671584 | DMD | c.5077A>G (p.Lys1693Glu) c.1045A>G (p.Lys349Glu) c.5065A>G (p.Lys1689Glu) n.336-147596A>G c.5053A>G (p.Lys1685Glu) c.4708A>G (p.Lys1570Glu) c.1054A>G (p.Lys352Glu) c.4948A>G (p.Lys1650Glu) | gnomAD v4 |
X | g.32364659T>G | CA412671585 | DMD | c.5077A>C (p.Lys1693Gln) c.1045A>C (p.Lys349Gln) c.5065A>C (p.Lys1689Gln) n.336-147596A>C c.5053A>C (p.Lys1685Gln) c.4708A>C (p.Lys1570Gln) c.1054A>C (p.Lys352Gln) c.4948A>C (p.Lys1650Gln) | |
X | g.32364660T>A | CA515714722 | DMD | c.5076A>T (p.Thr1692=) c.1044A>T (p.Thr348=) c.5064A>T (p.Thr1688=) n.336-147597A>T c.5052A>T (p.Thr1684=) c.4707A>T (p.Thr1569=) c.1053A>T (p.Thr351=) c.4947A>T (p.Thr1649=) | |
X | g.32364660T>C | CA10378777 | DMD | c.5076A>G (p.Thr1692=) c.1044A>G (p.Thr348=) c.5064A>G (p.Thr1688=) n.336-147597A>G c.5052A>G (p.Thr1684=) c.4707A>G (p.Thr1569=) c.1053A>G (p.Thr351=) c.4947A>G (p.Thr1649=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364660T>G | CA515714721 | DMD | c.5076A>C (p.Thr1692=) c.1044A>C (p.Thr348=) c.5064A>C (p.Thr1688=) n.336-147597A>C c.5052A>C (p.Thr1684=) c.4707A>C (p.Thr1569=) c.1053A>C (p.Thr351=) c.4947A>C (p.Thr1649=) | |
X | g.32364660T= | CA2422769926 | DMD | c.5076A= (p.Thr1692=) c.1044A= (p.Thr348=) c.5064A= (p.Thr1688=) n.336-147597A= c.5052A= (p.Thr1684=) c.4707A= (p.Thr1569=) c.1053A= (p.Thr351=) c.4947A= (p.Thr1649=) | |
X | g.32364661G>A | CA412671587 | DMD | c.5075C>T (p.Thr1692Ile) c.1043C>T (p.Thr348Ile) c.5063C>T (p.Thr1688Ile) n.336-147598C>T c.5051C>T (p.Thr1684Ile) c.4706C>T (p.Thr1569Ile) c.1052C>T (p.Thr351Ile) c.4946C>T (p.Thr1649Ile) | |
X | g.32364661G>C | CA10378778 | DMD | c.5075C>G (p.Thr1692Arg) c.1043C>G (p.Thr348Arg) c.5063C>G (p.Thr1688Arg) n.336-147598C>G c.5051C>G (p.Thr1684Arg) c.4706C>G (p.Thr1569Arg) c.1052C>G (p.Thr351Arg) c.4946C>G (p.Thr1649Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364661G= | CA2422769927 | DMD | c.5075C= (p.Thr1692=) c.1043C= (p.Thr348=) c.5063C= (p.Thr1688=) n.336-147598C= c.5051C= (p.Thr1684=) c.4706C= (p.Thr1569=) c.1052C= (p.Thr351=) c.4946C= (p.Thr1649=) | |
X | g.32364661G>T | CA412671586 | DMD | c.5075C>A (p.Thr1692Lys) c.1043C>A (p.Thr348Lys) c.5063C>A (p.Thr1688Lys) n.336-147598C>A c.5051C>A (p.Thr1684Lys) c.4706C>A (p.Thr1569Lys) c.1052C>A (p.Thr351Lys) c.4946C>A (p.Thr1649Lys) | |
X | g.32364662T>A | CA412671588 | DMD | c.5074A>T (p.Thr1692Ser) c.1042A>T (p.Thr348Ser) c.5062A>T (p.Thr1688Ser) n.336-147599A>T c.5050A>T (p.Thr1684Ser) c.4705A>T (p.Thr1569Ser) c.1051A>T (p.Thr351Ser) c.4945A>T (p.Thr1649Ser) | |
X | g.32364662T>C | CA10378779 | DMD | c.5074A>G (p.Thr1692Ala) c.1042A>G (p.Thr348Ala) c.5062A>G (p.Thr1688Ala) n.336-147599A>G c.5050A>G (p.Thr1684Ala) c.4705A>G (p.Thr1569Ala) c.1051A>G (p.Thr351Ala) c.4945A>G (p.Thr1649Ala) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.32364662T>G | CA412671589 | DMD | c.5074A>C (p.Thr1692Pro) c.1042A>C (p.Thr348Pro) c.5062A>C (p.Thr1688Pro) n.336-147599A>C c.5050A>C (p.Thr1684Pro) c.4705A>C (p.Thr1569Pro) c.1051A>C (p.Thr351Pro) c.4945A>C (p.Thr1649Pro) | dbSNP |
X | g.32364662T= | CA2422769928 | DMD | c.5074A= (p.Thr1692=) c.1042A= (p.Thr348=) c.5062A= (p.Thr1688=) n.336-147599A= c.5050A= (p.Thr1684=) c.4705A= (p.Thr1569=) c.1051A= (p.Thr351=) c.4945A= (p.Thr1649=) | |
X | g.32364663G>A | CA515714723 | DMD | c.5073C>T (p.Ile1691=) c.1041C>T (p.Ile347=) c.5061C>T (p.Ile1687=) n.336-147600C>T c.5049C>T (p.Ile1683=) c.4704C>T (p.Ile1568=) c.1050C>T (p.Ile350=) c.4944C>T (p.Ile1648=) | |
X | g.32364663G>C | CA412671590 | DMD | c.5073C>G (p.Ile1691Met) c.1041C>G (p.Ile347Met) c.5061C>G (p.Ile1687Met) n.336-147600C>G c.5049C>G (p.Ile1683Met) c.4704C>G (p.Ile1568Met) c.1050C>G (p.Ile350Met) c.4944C>G (p.Ile1648Met) | |
X | g.32364663G>T | CA515714724 | DMD | c.5073C>A (p.Ile1691=) c.1041C>A (p.Ile347=) c.5061C>A (p.Ile1687=) n.336-147600C>A c.5049C>A (p.Ile1683=) c.4704C>A (p.Ile1568=) c.1050C>A (p.Ile350=) c.4944C>A (p.Ile1648=) | ClinVar dbSNP gnomAD v4 |
X | g.32364664A>C | CA412671591 | DMD | c.5072T>G (p.Ile1691Ser) c.1040T>G (p.Ile347Ser) c.5060T>G (p.Ile1687Ser) n.336-147601T>G c.5048T>G (p.Ile1683Ser) c.4703T>G (p.Ile1568Ser) c.1049T>G (p.Ile350Ser) c.4943T>G (p.Ile1648Ser) | |
X | g.32364664A>G | CA412671592 | DMD | c.5072T>C (p.Ile1691Thr) c.1040T>C (p.Ile347Thr) c.5060T>C (p.Ile1687Thr) n.336-147601T>C c.5048T>C (p.Ile1683Thr) c.4703T>C (p.Ile1568Thr) c.1049T>C (p.Ile350Thr) c.4943T>C (p.Ile1648Thr) | |
X | g.32364664A>T | CA412671593 | DMD | c.5072T>A (p.Ile1691Asn) c.1040T>A (p.Ile347Asn) c.5060T>A (p.Ile1687Asn) n.336-147601T>A c.5048T>A (p.Ile1683Asn) c.4703T>A (p.Ile1568Asn) c.1049T>A (p.Ile350Asn) c.4943T>A (p.Ile1648Asn) | |
X | g.32364665T>A | CA412671594 | DMD | c.5071A>T (p.Ile1691Phe) c.1039A>T (p.Ile347Phe) c.5059A>T (p.Ile1687Phe) n.336-147602A>T c.5047A>T (p.Ile1683Phe) c.4702A>T (p.Ile1568Phe) c.1048A>T (p.Ile350Phe) c.4942A>T (p.Ile1648Phe) | |
X | g.32364665T>C | CA412671596 | DMD | c.5071A>G (p.Ile1691Val) c.1039A>G (p.Ile347Val) c.5059A>G (p.Ile1687Val) n.336-147602A>G c.5047A>G (p.Ile1683Val) c.4702A>G (p.Ile1568Val) c.1048A>G (p.Ile350Val) c.4942A>G (p.Ile1648Val) | |
X | g.32364665T>G | CA412671595 | DMD | c.5071A>C (p.Ile1691Leu) c.1039A>C (p.Ile347Leu) c.5059A>C (p.Ile1687Leu) n.336-147602A>C c.5047A>C (p.Ile1683Leu) c.4702A>C (p.Ile1568Leu) c.1048A>C (p.Ile350Leu) c.4942A>C (p.Ile1648Leu) | |
X | g.32364665dup | CA2695234097 | DMD | c.5071dup (p.Ile1691AsnfsTer9) c.1039dup (p.Ile347AsnfsTer9) c.5059dup (p.Ile1687AsnfsTer9) n.336-147602dup c.5047dup (p.Ile1683AsnfsTer9) c.4702dup (p.Ile1568AsnfsTer9) c.1048dup (p.Ile350AsnfsTer9) c.4942dup (p.Ile1648AsnfsTer9) | |
X | g.32364665_32364668delinsTGTG | CA2422769929 | DMD | c.5068_5071delinsCACA (p.His1690=) c.1036_1039delinsCACA (p.His346=) c.5056_5059delinsCACA (p.His1686=) n.336-147605_336-147602delinsCACA c.5044_5047delinsCACA (p.His1682=) c.4699_4702delinsCACA (p.His1567=) c.1045_1048delinsCACA (p.His349=) c.4939_4942delinsCACA (p.His1647=) | |
X | g.32364666G>A | CA327995252 | DMD | c.5070C>T (p.His1690=) c.1038C>T (p.His346=) c.5058C>T (p.His1686=) n.336-147603C>T c.5046C>T (p.His1682=) c.4701C>T (p.His1567=) c.1047C>T (p.His349=) c.4941C>T (p.His1647=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32364666G>C | CA412671597 | DMD | c.5070C>G (p.His1690Gln) c.1038C>G (p.His346Gln) c.5058C>G (p.His1686Gln) n.336-147603C>G c.5046C>G (p.His1682Gln) c.4701C>G (p.His1567Gln) c.1047C>G (p.His349Gln) c.4941C>G (p.His1647Gln) | |
X | g.32364666G= | CA2422769930 | DMD | c.5070C= (p.His1690=) c.1038C= (p.His346=) c.5058C= (p.His1686=) n.336-147603C= c.5046C= (p.His1682=) c.4701C= (p.His1567=) c.1047C= (p.His349=) c.4941C= (p.His1647=) | |
X | g.32364666G>T | CA412671598 | DMD | c.5070C>A (p.His1690Gln) c.1038C>A (p.His346Gln) c.5058C>A (p.His1686Gln) n.336-147603C>A c.5046C>A (p.His1682Gln) c.4701C>A (p.His1567Gln) c.1047C>A (p.His349Gln) c.4941C>A (p.His1647Gln) | COSMIC COSMIC COSMIC COSMIC |
X | g.32364668_32364670del | CA10378780 | DMD | c.5068_5070del (p.His1690del) c.1036_1038del (p.His346del) c.5056_5058del (p.His1686del) n.336-147605_336-147603del c.5044_5046del (p.His1682del) c.4699_4701del (p.His1567del) c.1045_1047del (p.His349del) c.4939_4941del (p.His1647del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364667T>A | CA412671599 | DMD | c.5069A>T (p.His1690Leu) c.1037A>T (p.His346Leu) c.5057A>T (p.His1686Leu) n.336-147604A>T c.5045A>T (p.His1682Leu) c.4700A>T (p.His1567Leu) c.1046A>T (p.His349Leu) c.4940A>T (p.His1647Leu) | dbSNP gnomAD v4 |
X | g.32364667T>C | CA412671601 | DMD | c.5069A>G (p.His1690Arg) c.1037A>G (p.His346Arg) c.5057A>G (p.His1686Arg) n.336-147604A>G c.5045A>G (p.His1682Arg) c.4700A>G (p.His1567Arg) c.1046A>G (p.His349Arg) c.4940A>G (p.His1647Arg) | |
X | g.32364667T>G | CA412671600 | DMD | c.5069A>C (p.His1690Pro) c.1037A>C (p.His346Pro) c.5057A>C (p.His1686Pro) n.336-147604A>C c.5045A>C (p.His1682Pro) c.4700A>C (p.His1567Pro) c.1046A>C (p.His349Pro) c.4940A>C (p.His1647Pro) | |
X | g.32364667T= | CA2422769931 | DMD | c.5069A= (p.His1690=) c.1037A= (p.His346=) c.5057A= (p.His1686=) n.336-147604A= c.5045A= (p.His1682=) c.4700A= (p.His1567=) c.1046A= (p.His349=) c.4940A= (p.His1647=) | |
X | g.32364668G>A | CA412671602 | DMD | c.5068C>T (p.His1690Tyr) c.1036C>T (p.His346Tyr) c.5056C>T (p.His1686Tyr) n.336-147605C>T c.5044C>T (p.His1682Tyr) c.4699C>T (p.His1567Tyr) c.1045C>T (p.His349Tyr) c.4939C>T (p.His1647Tyr) | |
X | g.32364668G>C | CA412671603 | DMD | c.5068C>G (p.His1690Asp) c.1036C>G (p.His346Asp) c.5056C>G (p.His1686Asp) n.336-147605C>G c.5044C>G (p.His1682Asp) c.4699C>G (p.His1567Asp) c.1045C>G (p.His349Asp) c.4939C>G (p.His1647Asp) | |
X | g.32364668G>T | CA412671604 | DMD | c.5068C>A (p.His1690Asn) c.1036C>A (p.His346Asn) c.5056C>A (p.His1686Asn) n.336-147605C>A c.5044C>A (p.His1682Asn) c.4699C>A (p.His1567Asn) c.1045C>A (p.His349Asn) c.4939C>A (p.His1647Asn) | |
X | g.32364669G>A | CA515714725 | DMD | c.5067C>T (p.Asp1689=) c.1035C>T (p.Asp345=) c.5055C>T (p.Asp1685=) n.336-147606C>T c.5043C>T (p.Asp1681=) c.4698C>T (p.Asp1566=) c.1044C>T (p.Asp348=) c.4938C>T (p.Asp1646=) | |
X | g.32364669G>C | CA412671605 | DMD | c.5067C>G (p.Asp1689Glu) c.1035C>G (p.Asp345Glu) c.5055C>G (p.Asp1685Glu) n.336-147606C>G c.5043C>G (p.Asp1681Glu) c.4698C>G (p.Asp1566Glu) c.1044C>G (p.Asp348Glu) c.4938C>G (p.Asp1646Glu) | |
X | g.32364669G>T | CA412671606 | DMD | c.5067C>A (p.Asp1689Glu) c.1035C>A (p.Asp345Glu) c.5055C>A (p.Asp1685Glu) n.336-147606C>A c.5043C>A (p.Asp1681Glu) c.4698C>A (p.Asp1566Glu) c.1044C>A (p.Asp348Glu) c.4938C>A (p.Asp1646Glu) | |
X | g.32364670del | CA2695234098 | DMD | c.5066del (p.Asp1689AlafsTer?) c.1034del (p.Asp345AlafsTer?) c.5054del (p.Asp1685AlafsTer?) n.336-147607del c.5042del (p.Asp1681AlafsTer?) c.4697del (p.Asp1566AlafsTer?) c.1043del (p.Asp348AlafsTer?) c.4937del (p.Asp1646AlafsTer?) | |
X | g.32364670T>A | CA412671607 | DMD | c.5066A>T (p.Asp1689Val) c.1034A>T (p.Asp345Val) c.5054A>T (p.Asp1685Val) n.336-147607A>T c.5042A>T (p.Asp1681Val) c.4697A>T (p.Asp1566Val) c.1043A>T (p.Asp348Val) c.4937A>T (p.Asp1646Val) | |
X | g.32364670T>C | CA412671608 | DMD | c.5066A>G (p.Asp1689Gly) c.1034A>G (p.Asp345Gly) c.5054A>G (p.Asp1685Gly) n.336-147607A>G c.5042A>G (p.Asp1681Gly) c.4697A>G (p.Asp1566Gly) c.1043A>G (p.Asp348Gly) c.4937A>G (p.Asp1646Gly) | |
X | g.32364670T>G | CA412671609 | DMD | c.5066A>C (p.Asp1689Ala) c.1034A>C (p.Asp345Ala) c.5054A>C (p.Asp1685Ala) n.336-147607A>C c.5042A>C (p.Asp1681Ala) c.4697A>C (p.Asp1566Ala) c.1043A>C (p.Asp348Ala) c.4937A>C (p.Asp1646Ala) | |
X | g.32364670T= | CA2422769932 | DMD | c.5066A= (p.Asp1689=) c.1034A= (p.Asp345=) c.5054A= (p.Asp1685=) n.336-147607A= c.5042A= (p.Asp1681=) c.4697A= (p.Asp1566=) c.1043A= (p.Asp348=) c.4937A= (p.Asp1646=) | |
X | g.32364671C>A | CA412671610 | DMD | c.5065G>T (p.Asp1689Tyr) c.1033G>T (p.Asp345Tyr) c.5053G>T (p.Asp1685Tyr) n.336-147608G>T c.5041G>T (p.Asp1681Tyr) c.4696G>T (p.Asp1566Tyr) c.1042G>T (p.Asp348Tyr) c.4936G>T (p.Asp1646Tyr) | dbSNP gnomAD v4 |
X | g.32364671C= | CA2422769934 | DMD | c.5065G= (p.Asp1689=) c.1033G= (p.Asp345=) c.5053G= (p.Asp1685=) n.336-147608G= c.5041G= (p.Asp1681=) c.4696G= (p.Asp1566=) c.1042G= (p.Asp348=) c.4936G= (p.Asp1646=) | |
X | g.32364671C>G | CA412671611 | DMD | c.5065G>C (p.Asp1689His) c.1033G>C (p.Asp345His) c.5053G>C (p.Asp1685His) n.336-147608G>C c.5041G>C (p.Asp1681His) c.4696G>C (p.Asp1566His) c.1042G>C (p.Asp348His) c.4936G>C (p.Asp1646His) | |
X | g.32364671C>T | CA412671612 | DMD | c.5065G>A (p.Asp1689Asn) c.1033G>A (p.Asp345Asn) c.5053G>A (p.Asp1685Asn) n.336-147608G>A c.5041G>A (p.Asp1681Asn) c.4696G>A (p.Asp1566Asn) c.1042G>A (p.Asp348Asn) c.4936G>A (p.Asp1646Asn) | |
X | g.32364672dup | CA2422769933 | DMD | c.5065dup (p.Asp1689GlyfsTer11) c.1033dup (p.Asp345GlyfsTer11) c.5053dup (p.Asp1685GlyfsTer11) n.336-147608dup c.5041dup (p.Asp1681GlyfsTer11) c.4696dup (p.Asp1566GlyfsTer11) c.1042dup (p.Asp348GlyfsTer11) c.4936dup (p.Asp1646GlyfsTer11) | dbSNP |
X | g.32364672C>A | CA10606646 | DMD | c.5064G>T (p.Val1688=) c.1032G>T (p.Val344=) c.5052G>T (p.Val1684=) n.336-147609G>T c.5040G>T (p.Val1680=) c.4695G>T (p.Val1565=) c.1041G>T (p.Val347=) c.4935G>T (p.Val1645=) | ClinVar dbSNP |
X | g.32364672C= | CA2422769935 | DMD | c.5064G= (p.Val1688=) c.1032G= (p.Val344=) c.5052G= (p.Val1684=) n.336-147609G= c.5040G= (p.Val1680=) c.4695G= (p.Val1565=) c.1041G= (p.Val347=) c.4935G= (p.Val1645=) | |
X | g.32364672C>G | CA515714726 | DMD | c.5064G>C (p.Val1688=) c.1032G>C (p.Val344=) c.5052G>C (p.Val1684=) n.336-147609G>C c.5040G>C (p.Val1680=) c.4695G>C (p.Val1565=) c.1041G>C (p.Val347=) c.4935G>C (p.Val1645=) | |
X | g.32364672C>T | CA515714727 | DMD | c.5064G>A (p.Val1688=) c.1032G>A (p.Val344=) c.5052G>A (p.Val1684=) n.336-147609G>A c.5040G>A (p.Val1680=) c.4695G>A (p.Val1565=) c.1041G>A (p.Val347=) c.4935G>A (p.Val1645=) | |
X | g.32364673A= | CA2422769936 | DMD | c.5063T= (p.Val1688=) c.1031T= (p.Val344=) c.5051T= (p.Val1684=) n.336-147610T= c.5039T= (p.Val1680=) c.4694T= (p.Val1565=) c.1040T= (p.Val347=) c.4934T= (p.Val1645=) | |
X | g.32364673A>C | CA412671614 | DMD | c.5063T>G (p.Val1688Gly) c.1031T>G (p.Val344Gly) c.5051T>G (p.Val1684Gly) n.336-147610T>G c.5039T>G (p.Val1680Gly) c.4694T>G (p.Val1565Gly) c.1040T>G (p.Val347Gly) c.4934T>G (p.Val1645Gly) | |
X | g.32364673A>G | CA10378781 | DMD | c.5063T>C (p.Val1688Ala) c.1031T>C (p.Val344Ala) c.5051T>C (p.Val1684Ala) n.336-147610T>C c.5039T>C (p.Val1680Ala) c.4694T>C (p.Val1565Ala) c.1040T>C (p.Val347Ala) c.4934T>C (p.Val1645Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32364673A>T | CA412671613 | DMD | c.5063T>A (p.Val1688Glu) c.1031T>A (p.Val344Glu) c.5051T>A (p.Val1684Glu) n.336-147610T>A c.5039T>A (p.Val1680Glu) c.4694T>A (p.Val1565Glu) c.1040T>A (p.Val347Glu) c.4934T>A (p.Val1645Glu) | |
X | g.32364674C>A | CA412671617 | DMD | c.5062G>T (p.Val1688Leu) c.1030G>T (p.Val344Leu) c.5050G>T (p.Val1684Leu) n.336-147611G>T c.5038G>T (p.Val1680Leu) c.4693G>T (p.Val1565Leu) c.1039G>T (p.Val347Leu) c.4933G>T (p.Val1645Leu) | |
X | g.32364674C>G | CA412671615 | DMD | c.5062G>C (p.Val1688Leu) c.1030G>C (p.Val344Leu) c.5050G>C (p.Val1684Leu) n.336-147611G>C c.5038G>C (p.Val1680Leu) c.4693G>C (p.Val1565Leu) c.1039G>C (p.Val347Leu) c.4933G>C (p.Val1645Leu) | |
X | g.32364674C>T | CA412671616 | DMD | c.5062G>A (p.Val1688Met) c.1030G>A (p.Val344Met) c.5050G>A (p.Val1684Met) n.336-147611G>A c.5038G>A (p.Val1680Met) c.4693G>A (p.Val1565Met) c.1039G>A (p.Val347Met) c.4933G>A (p.Val1645Met) | |
X | g.32364675A>C | CA412671618 | DMD | c.5061T>G (p.Asn1687Lys) c.1029T>G (p.Asn343Lys) c.5049T>G (p.Asn1683Lys) n.336-147612T>G c.5037T>G (p.Asn1679Lys) c.4692T>G (p.Asn1564Lys) c.1038T>G (p.Asn346Lys) c.4932T>G (p.Asn1644Lys) | |
X | g.32364675A>G | CA515714728 | DMD | c.5061T>C (p.Asn1687=) c.1029T>C (p.Asn343=) c.5049T>C (p.Asn1683=) n.336-147612T>C c.5037T>C (p.Asn1679=) c.4692T>C (p.Asn1564=) c.1038T>C (p.Asn346=) c.4932T>C (p.Asn1644=) | |
X | g.32364675A>T | CA412671619 | DMD | c.5061T>A (p.Asn1687Lys) c.1029T>A (p.Asn343Lys) c.5049T>A (p.Asn1683Lys) n.336-147612T>A c.5037T>A (p.Asn1679Lys) c.4692T>A (p.Asn1564Lys) c.1038T>A (p.Asn346Lys) c.4932T>A (p.Asn1644Lys) | |
X | g.32364676T>A | CA412671620 | DMD | c.5060A>T (p.Asn1687Ile) c.1028A>T (p.Asn343Ile) c.5048A>T (p.Asn1683Ile) n.336-147613A>T c.5036A>T (p.Asn1679Ile) c.4691A>T (p.Asn1564Ile) c.1037A>T (p.Asn346Ile) c.4931A>T (p.Asn1644Ile) | dbSNP gnomAD v4 |
X | g.32364676T>C | CA412671621 | DMD | c.5060A>G (p.Asn1687Ser) c.1028A>G (p.Asn343Ser) c.5048A>G (p.Asn1683Ser) n.336-147613A>G c.5036A>G (p.Asn1679Ser) c.4691A>G (p.Asn1564Ser) c.1037A>G (p.Asn346Ser) c.4931A>G (p.Asn1644Ser) | |
X | g.32364676T>G | CA412671622 | DMD | c.5060A>C (p.Asn1687Thr) c.1028A>C (p.Asn343Thr) c.5048A>C (p.Asn1683Thr) n.336-147613A>C c.5036A>C (p.Asn1679Thr) c.4691A>C (p.Asn1564Thr) c.1037A>C (p.Asn346Thr) c.4931A>C (p.Asn1644Thr) | |
X | g.32364676T= | CA2422769937 | DMD | c.5060A= (p.Asn1687=) c.1028A= (p.Asn343=) c.5048A= (p.Asn1683=) n.336-147613A= c.5036A= (p.Asn1679=) c.4691A= (p.Asn1564=) c.1037A= (p.Asn346=) c.4931A= (p.Asn1644=) | |
X | g.32364677del | CA2580616932 | DMD | c.5060del (p.Asn1687MetfsTer?) c.1028del (p.Asn343MetfsTer?) c.5048del (p.Asn1683MetfsTer?) n.336-147613del c.5036del (p.Asn1679MetfsTer?) c.4691del (p.Asn1564MetfsTer?) c.1037del (p.Asn346MetfsTer?) c.4931del (p.Asn1644MetfsTer?) | ClinVar |
X | g.32364677T>A | CA412671625 | DMD | c.5059A>T (p.Asn1687Tyr) c.1027A>T (p.Asn343Tyr) c.5047A>T (p.Asn1683Tyr) n.336-147614A>T c.5035A>T (p.Asn1679Tyr) c.4690A>T (p.Asn1564Tyr) c.1036A>T (p.Asn346Tyr) c.4930A>T (p.Asn1644Tyr) | |
X | g.32364677T>C | CA412671623 | DMD | c.5059A>G (p.Asn1687Asp) c.1027A>G (p.Asn343Asp) c.5047A>G (p.Asn1683Asp) n.336-147614A>G c.5035A>G (p.Asn1679Asp) c.4690A>G (p.Asn1564Asp) c.1036A>G (p.Asn346Asp) c.4930A>G (p.Asn1644Asp) | |
X | g.32364677T>G | CA412671624 | DMD | c.5059A>C (p.Asn1687His) c.1027A>C (p.Asn343His) c.5047A>C (p.Asn1683His) n.336-147614A>C c.5035A>C (p.Asn1679His) c.4690A>C (p.Asn1564His) c.1036A>C (p.Asn346His) c.4930A>C (p.Asn1644His) | |
X | g.32364678C>A | CA412671626 | DMD | c.5058G>T (p.Gln1686His) c.1026G>T (p.Gln342His) c.5046G>T (p.Gln1682His) n.336-147615G>T c.5034G>T (p.Gln1678His) c.4689G>T (p.Gln1563His) c.1035G>T (p.Gln345His) c.4929G>T (p.Gln1643His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364678C= | CA2422769938 | DMD | c.5058G= (p.Gln1686=) c.1026G= (p.Gln342=) c.5046G= (p.Gln1682=) n.336-147615G= c.5034G= (p.Gln1678=) c.4689G= (p.Gln1563=) c.1035G= (p.Gln345=) c.4929G= (p.Gln1643=) | |
X | g.32364678C>G | CA412671627 | DMD | c.5058G>C (p.Gln1686His) c.1026G>C (p.Gln342His) c.5046G>C (p.Gln1682His) n.336-147615G>C c.5034G>C (p.Gln1678His) c.4689G>C (p.Gln1563His) c.1035G>C (p.Gln345His) c.4929G>C (p.Gln1643His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32364678C>T | CA515714729 | DMD | c.5058G>A (p.Gln1686=) c.1026G>A (p.Gln342=) c.5046G>A (p.Gln1682=) n.336-147615G>A c.5034G>A (p.Gln1678=) c.4689G>A (p.Gln1563=) c.1035G>A (p.Gln345=) c.4929G>A (p.Gln1643=) | COSMIC COSMIC COSMIC COSMIC |
X | g.32364679T>A | CA412671628 | DMD | c.5057A>T (p.Gln1686Leu) c.1025A>T (p.Gln342Leu) c.5045A>T (p.Gln1682Leu) n.336-147616A>T c.5033A>T (p.Gln1678Leu) c.4688A>T (p.Gln1563Leu) c.1034A>T (p.Gln345Leu) c.4928A>T (p.Gln1643Leu) | |
X | g.32364679T>C | CA412671629 | DMD | c.5057A>G (p.Gln1686Arg) c.1025A>G (p.Gln342Arg) c.5045A>G (p.Gln1682Arg) n.336-147616A>G c.5033A>G (p.Gln1678Arg) c.4688A>G (p.Gln1563Arg) c.1034A>G (p.Gln345Arg) c.4928A>G (p.Gln1643Arg) | |
X | g.32364679T>G | CA412671630 | DMD | c.5057A>C (p.Gln1686Pro) c.1025A>C (p.Gln342Pro) c.5045A>C (p.Gln1682Pro) n.336-147616A>C c.5033A>C (p.Gln1678Pro) c.4688A>C (p.Gln1563Pro) c.1034A>C (p.Gln345Pro) c.4928A>C (p.Gln1643Pro) | |
X | g.32364680G>A | CA412671631 | DMD | c.5056C>T (p.Gln1686Ter) c.1024C>T (p.Gln342Ter) c.5044C>T (p.Gln1682Ter) n.336-147617C>T c.5032C>T (p.Gln1678Ter) c.4687C>T (p.Gln1563Ter) c.1033C>T (p.Gln345Ter) c.4927C>T (p.Gln1643Ter) | ClinVar dbSNP |
X | g.32364680G>C | CA412671633 | DMD | c.5056C>G (p.Gln1686Glu) c.1024C>G (p.Gln342Glu) c.5044C>G (p.Gln1682Glu) n.336-147617C>G c.5032C>G (p.Gln1678Glu) c.4687C>G (p.Gln1563Glu) c.1033C>G (p.Gln345Glu) c.4927C>G (p.Gln1643Glu) | |
X | g.32364680G= | CA2422769939 | DMD | c.5056C= (p.Gln1686=) c.1024C= (p.Gln342=) c.5044C= (p.Gln1682=) n.336-147617C= c.5032C= (p.Gln1678=) c.4687C= (p.Gln1563=) c.1033C= (p.Gln345=) c.4927C= (p.Gln1643=) | |
X | g.32364680G>T | CA412671632 | DMD | c.5056C>A (p.Gln1686Lys) c.1024C>A (p.Gln342Lys) c.5044C>A (p.Gln1682Lys) n.336-147617C>A c.5032C>A (p.Gln1678Lys) c.4687C>A (p.Gln1563Lys) c.1033C>A (p.Gln345Lys) c.4927C>A (p.Gln1643Lys) | |
X | g.32364681G>A | CA515714730 | DMD | c.5055C>T (p.Asp1685=) c.1023C>T (p.Asp341=) c.5043C>T (p.Asp1681=) c.303C>T (p.Asp101=) c.123C>T (p.Asp41=) n.336-147618C>T c.5031C>T (p.Asp1677=) c.4686C>T (p.Asp1562=) c.1032C>T (p.Asp344=) c.4926C>T (p.Asp1642=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.32364681G>C | CA412671634 | DMD | c.5055C>G (p.Asp1685Glu) c.1023C>G (p.Asp341Glu) c.5043C>G (p.Asp1681Glu) c.303C>G (p.Asp101Glu) c.123C>G (p.Asp41Glu) n.336-147618C>G c.5031C>G (p.Asp1677Glu) c.4686C>G (p.Asp1562Glu) c.1032C>G (p.Asp344Glu) c.4926C>G (p.Asp1642Glu) | |
X | g.32364681G= | CA2422769940 | DMD | c.5055C= (p.Asp1685=) c.1023C= (p.Asp341=) c.5043C= (p.Asp1681=) c.303C= (p.Asp101=) c.123C= (p.Asp41=) n.336-147618C= c.5031C= (p.Asp1677=) c.4686C= (p.Asp1562=) c.1032C= (p.Asp344=) c.4926C= (p.Asp1642=) | |
X | g.32364681G>T | CA412671635 | DMD | c.5055C>A (p.Asp1685Glu) c.1023C>A (p.Asp341Glu) c.5043C>A (p.Asp1681Glu) c.303C>A (p.Asp101Glu) c.123C>A (p.Asp41Glu) n.336-147618C>A c.5031C>A (p.Asp1677Glu) c.4686C>A (p.Asp1562Glu) c.1032C>A (p.Asp344Glu) c.4926C>A (p.Asp1642Glu) | |
X | g.32364682T>A | CA412671636 | DMD | c.5054A>T (p.Asp1685Val) c.1022A>T (p.Asp341Val) c.5042A>T (p.Asp1681Val) c.302A>T (p.Asp101Val) c.122A>T (p.Asp41Val) n.336-147619A>T c.5030A>T (p.Asp1677Val) c.4685A>T (p.Asp1562Val) c.1031A>T (p.Asp344Val) c.4925A>T (p.Asp1642Val) | ClinVar gnomAD v4 |
X | g.32364682T>C | CA412671637 | DMD | c.5054A>G (p.Asp1685Gly) c.1022A>G (p.Asp341Gly) c.5042A>G (p.Asp1681Gly) c.302A>G (p.Asp101Gly) c.122A>G (p.Asp41Gly) n.336-147619A>G c.5030A>G (p.Asp1677Gly) c.4685A>G (p.Asp1562Gly) c.1031A>G (p.Asp344Gly) c.4925A>G (p.Asp1642Gly) | |
X | g.32364682T>G | CA412671638 | DMD | c.5054A>C (p.Asp1685Ala) c.1022A>C (p.Asp341Ala) c.5042A>C (p.Asp1681Ala) c.302A>C (p.Asp101Ala) c.122A>C (p.Asp41Ala) n.336-147619A>C c.5030A>C (p.Asp1677Ala) c.4685A>C (p.Asp1562Ala) c.1031A>C (p.Asp344Ala) c.4925A>C (p.Asp1642Ala) | |
X | g.32364683C>A | CA412671639 | DMD | c.5053G>T (p.Asp1685Tyr) c.1021G>T (p.Asp341Tyr) c.5041G>T (p.Asp1681Tyr) c.301G>T (p.Asp101Tyr) c.121G>T (p.Asp41Tyr) n.336-147620G>T c.5029G>T (p.Asp1677Tyr) c.4684G>T (p.Asp1562Tyr) c.1030G>T (p.Asp344Tyr) c.4924G>T (p.Asp1642Tyr) | gnomAD v4 |
X | g.32364683C>G | CA412671640 | DMD | c.5053G>C (p.Asp1685His) c.1021G>C (p.Asp341His) c.5041G>C (p.Asp1681His) c.301G>C (p.Asp101His) c.121G>C (p.Asp41His) n.336-147620G>C c.5029G>C (p.Asp1677His) c.4684G>C (p.Asp1562His) c.1030G>C (p.Asp344His) c.4924G>C (p.Asp1642His) | |
X | g.32364683C>T | CA412671641 | DMD | c.5053G>A (p.Asp1685Asn) c.1021G>A (p.Asp341Asn) c.5041G>A (p.Asp1681Asn) c.301G>A (p.Asp101Asn) c.121G>A (p.Asp41Asn) n.336-147620G>A c.5029G>A (p.Asp1677Asn) c.4684G>A (p.Asp1562Asn) c.1030G>A (p.Asp344Asn) c.4924G>A (p.Asp1642Asn) | |
X | g.32364683_32364684delinsCA | CA2422769941 | DMD | c.5052_5053delinsTG (p.Phe1684=) c.1020_1021delinsTG (p.Phe340=) c.5040_5041delinsTG (p.Phe1680=) c.300_301delinsTG (p.Phe100=) c.120_121delinsTG (p.Phe40=) n.336-147621_336-147620delinsTG c.5028_5029delinsTG (p.Phe1676=) c.4683_4684delinsTG (p.Phe1561=) c.1029_1030delinsTG (p.Phe343=) c.4923_4924delinsTG (p.Phe1641=) | |
X | g.32364684A>C | CA412671642 | DMD | c.5052T>G (p.Phe1684Leu) c.1020T>G (p.Phe340Leu) c.5040T>G (p.Phe1680Leu) c.300T>G (p.Phe100Leu) c.120T>G (p.Phe40Leu) n.336-147621T>G c.5028T>G (p.Phe1676Leu) c.4683T>G (p.Phe1561Leu) c.1029T>G (p.Phe343Leu) c.4923T>G (p.Phe1641Leu) | |
X | g.32364684A>G | CA515714731 | DMD | c.5052T>C (p.Phe1684=) c.1020T>C (p.Phe340=) c.5040T>C (p.Phe1680=) c.300T>C (p.Phe100=) c.120T>C (p.Phe40=) n.336-147621T>C c.5028T>C (p.Phe1676=) c.4683T>C (p.Phe1561=) c.1029T>C (p.Phe343=) c.4923T>C (p.Phe1641=) | |
X | g.32364684A>T | CA412671643 | DMD | c.5052T>A (p.Phe1684Leu) c.1020T>A (p.Phe340Leu) c.5040T>A (p.Phe1680Leu) c.300T>A (p.Phe100Leu) c.120T>A (p.Phe40Leu) n.336-147621T>A c.5028T>A (p.Phe1676Leu) c.4683T>A (p.Phe1561Leu) c.1029T>A (p.Phe343Leu) c.4923T>A (p.Phe1641Leu) | |
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.32364685A= | CA2422769942 | DMD | c.5051T= (p.Phe1684=) c.1019T= (p.Phe340=) c.5039T= (p.Phe1680=) c.299T= (p.Phe100=) c.119T= (p.Phe40=) n.336-147622T= c.5027T= (p.Phe1676=) c.4682T= (p.Phe1561=) c.1028T= (p.Phe343=) c.4922T= (p.Phe1641=) | |
X | g.32364685A>C | CA412671644 | DMD | c.5051T>G (p.Phe1684Cys) c.1019T>G (p.Phe340Cys) c.5039T>G (p.Phe1680Cys) c.299T>G (p.Phe100Cys) c.119T>G (p.Phe40Cys) n.336-147622T>G c.5027T>G (p.Phe1676Cys) c.4682T>G (p.Phe1561Cys) c.1028T>G (p.Phe343Cys) c.4922T>G (p.Phe1641Cys) | |
X | g.32364685A>G | CA327995288 | DMD | c.5051T>C (p.Phe1684Ser) c.1019T>C (p.Phe340Ser) c.5039T>C (p.Phe1680Ser) c.299T>C (p.Phe100Ser) c.119T>C (p.Phe40Ser) n.336-147622T>C c.5027T>C (p.Phe1676Ser) c.4682T>C (p.Phe1561Ser) c.1028T>C (p.Phe343Ser) c.4922T>C (p.Phe1641Ser) | ClinVar dbSNP |
X | g.32364685A>T | CA412671645 | DMD | c.5051T>A (p.Phe1684Tyr) c.1019T>A (p.Phe340Tyr) c.5039T>A (p.Phe1680Tyr) c.299T>A (p.Phe100Tyr) c.119T>A (p.Phe40Tyr) n.336-147622T>A c.5027T>A (p.Phe1676Tyr) c.4682T>A (p.Phe1561Tyr) c.1028T>A (p.Phe343Tyr) c.4922T>A (p.Phe1641Tyr) | |
X | g.32364686A>C | CA412671646 | DMD | c.5050T>G (p.Phe1684Val) c.1018T>G (p.Phe340Val) c.5038T>G (p.Phe1680Val) c.298T>G (p.Phe100Val) c.118T>G (p.Phe40Val) n.336-147623T>G c.5026T>G (p.Phe1676Val) c.4681T>G (p.Phe1561Val) c.1027T>G (p.Phe343Val) c.4921T>G (p.Phe1641Val) | |
X | g.32364686A>G | CA412671647 | DMD | c.5050T>C (p.Phe1684Leu) c.1018T>C (p.Phe340Leu) c.5038T>C (p.Phe1680Leu) c.298T>C (p.Phe100Leu) c.118T>C (p.Phe40Leu) n.336-147623T>C c.5026T>C (p.Phe1676Leu) c.4681T>C (p.Phe1561Leu) c.1027T>C (p.Phe343Leu) c.4921T>C (p.Phe1641Leu) | |
X | g.32364686A>T | CA412671648 | DMD | c.5050T>A (p.Phe1684Ile) c.1018T>A (p.Phe340Ile) c.5038T>A (p.Phe1680Ile) c.298T>A (p.Phe100Ile) c.118T>A (p.Phe40Ile) n.336-147623T>A c.5026T>A (p.Phe1676Ile) c.4681T>A (p.Phe1561Ile) c.1027T>A (p.Phe343Ile) c.4921T>A (p.Phe1641Ile) | |
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) | |
X | g.32364701T>G | CA412671684 | DMD | c.5035A>C (p.Lys1679Gln) c.1003A>C (p.Lys335Gln) c.5023A>C (p.Lys1675Gln) c.283A>C (p.Lys95Gln) c.103A>C (p.Lys35Gln) n.336-147638A>C c.5011A>C (p.Lys1671Gln) c.4666A>C (p.Lys1556Gln) c.1012A>C (p.Lys338Gln) c.4906A>C (p.Lys1636Gln) | |
X | g.32364702C>A | CA412671685 | DMD | c.5034G>T (p.Gln1678His) c.1002G>T (p.Gln334His) c.5022G>T (p.Gln1674His) c.282G>T (p.Gln94His) c.102G>T (p.Gln34His) n.336-147639G>T c.5010G>T (p.Gln1670His) c.4665G>T (p.Gln1555His) c.1011G>T (p.Gln337His) c.4905G>T (p.Gln1635His) | |
X | g.32364702C>G | CA412671686 | DMD | c.5034G>C (p.Gln1678His) c.1002G>C (p.Gln334His) c.5022G>C (p.Gln1674His) c.282G>C (p.Gln94His) c.102G>C (p.Gln34His) n.336-147639G>C c.5010G>C (p.Gln1670His) c.4665G>C (p.Gln1555His) c.1011G>C (p.Gln337His) c.4905G>C (p.Gln1635His) | gnomAD v4 |
X | g.32364702C>T | CA515714737 | DMD | c.5034G>A (p.Gln1678=) c.1002G>A (p.Gln334=) c.5022G>A (p.Gln1674=) c.282G>A (p.Gln94=) c.102G>A (p.Gln34=) n.336-147639G>A c.5010G>A (p.Gln1670=) c.4665G>A (p.Gln1555=) c.1011G>A (p.Gln337=) c.4905G>A (p.Gln1635=) | |
X | g.32364703T>A | CA412671687 | DMD | c.5033A>T (p.Gln1678Leu) c.1001A>T (p.Gln334Leu) c.5021A>T (p.Gln1674Leu) c.281A>T (p.Gln94Leu) c.101A>T (p.Gln34Leu) n.336-147640A>T c.5009A>T (p.Gln1670Leu) c.4664A>T (p.Gln1555Leu) c.1010A>T (p.Gln337Leu) c.4904A>T (p.Gln1635Leu) | |
X | g.32364703T>C | CA412671688 | DMD | c.5033A>G (p.Gln1678Arg) c.1001A>G (p.Gln334Arg) c.5021A>G (p.Gln1674Arg) c.281A>G (p.Gln94Arg) c.101A>G (p.Gln34Arg) n.336-147640A>G c.5009A>G (p.Gln1670Arg) c.4664A>G (p.Gln1555Arg) c.1010A>G (p.Gln337Arg) c.4904A>G (p.Gln1635Arg) | |
X | g.32364703T>G | CA412671689 | DMD | c.5033A>C (p.Gln1678Pro) c.1001A>C (p.Gln334Pro) c.5021A>C (p.Gln1674Pro) c.281A>C (p.Gln94Pro) c.101A>C (p.Gln34Pro) n.336-147640A>C c.5009A>C (p.Gln1670Pro) c.4664A>C (p.Gln1555Pro) c.1010A>C (p.Gln337Pro) c.4904A>C (p.Gln1635Pro) | COSMIC COSMIC COSMIC COSMIC |
X | g.32364704G>A | CA10603873 | DMD | c.5032C>T (p.Gln1678Ter) c.1000C>T (p.Gln334Ter) c.5020C>T (p.Gln1674Ter) c.280C>T (p.Gln94Ter) c.100C>T (p.Gln34Ter) n.336-147641C>T c.5008C>T (p.Gln1670Ter) c.4663C>T (p.Gln1555Ter) c.1009C>T (p.Gln337Ter) c.4903C>T (p.Gln1635Ter) | ClinVar dbSNP |
X | g.32364704G>C | CA412671690 | DMD | c.5032C>G (p.Gln1678Glu) c.1000C>G (p.Gln334Glu) c.5020C>G (p.Gln1674Glu) c.280C>G (p.Gln94Glu) c.100C>G (p.Gln34Glu) n.336-147641C>G c.5008C>G (p.Gln1670Glu) c.4663C>G (p.Gln1555Glu) c.1009C>G (p.Gln337Glu) c.4903C>G (p.Gln1635Glu) | gnomAD v4 |
X | g.32364704G= | CA2422769947 | DMD | c.5032C= (p.Gln1678=) c.1000C= (p.Gln334=) c.5020C= (p.Gln1674=) c.280C= (p.Gln94=) c.100C= (p.Gln34=) n.336-147641C= c.5008C= (p.Gln1670=) c.4663C= (p.Gln1555=) c.1009C= (p.Gln337=) c.4903C= (p.Gln1635=) | |
X | g.32364704G>T | CA412671691 | DMD | c.5032C>A (p.Gln1678Lys) c.1000C>A (p.Gln334Lys) c.5020C>A (p.Gln1674Lys) c.280C>A (p.Gln94Lys) c.100C>A (p.Gln34Lys) n.336-147641C>A c.5008C>A (p.Gln1670Lys) c.4663C>A (p.Gln1555Lys) c.1009C>A (p.Gln337Lys) c.4903C>A (p.Gln1635Lys) | |
X | g.32364705G>A | CA10378783 | DMD | c.5031C>T (p.Tyr1677=) c.999C>T (p.Tyr333=) c.5019C>T (p.Tyr1673=) c.279C>T (p.Tyr93=) c.99C>T (p.Tyr33=) n.336-147642C>T c.5007C>T (p.Tyr1669=) c.4662C>T (p.Tyr1554=) c.1008C>T (p.Tyr336=) c.4902C>T (p.Tyr1634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364705G>C | CA412671692 | DMD | c.5031C>G (p.Tyr1677Ter) c.999C>G (p.Tyr333Ter) c.5019C>G (p.Tyr1673Ter) c.279C>G (p.Tyr93Ter) c.99C>G (p.Tyr33Ter) n.336-147642C>G c.5007C>G (p.Tyr1669Ter) c.4662C>G (p.Tyr1554Ter) c.1008C>G (p.Tyr336Ter) c.4902C>G (p.Tyr1634Ter) | ClinVar |
X | g.32364705G= | CA2422769948 | DMD | c.5031C= (p.Tyr1677=) c.999C= (p.Tyr333=) c.5019C= (p.Tyr1673=) c.279C= (p.Tyr93=) c.99C= (p.Tyr33=) n.336-147642C= c.5007C= (p.Tyr1669=) c.4662C= (p.Tyr1554=) c.1008C= (p.Tyr336=) c.4902C= (p.Tyr1634=) | |
X | g.32364705G>T | CA412671693 | DMD | c.5031C>A (p.Tyr1677Ter) c.999C>A (p.Tyr333Ter) c.5019C>A (p.Tyr1673Ter) c.279C>A (p.Tyr93Ter) c.99C>A (p.Tyr33Ter) n.336-147642C>A c.5007C>A (p.Tyr1669Ter) c.4662C>A (p.Tyr1554Ter) c.1008C>A (p.Tyr336Ter) c.4902C>A (p.Tyr1634Ter) | dbSNP |
X | g.32364706T>A | CA412671694 | DMD | c.5030A>T (p.Tyr1677Phe) c.998A>T (p.Tyr333Phe) c.5018A>T (p.Tyr1673Phe) c.278A>T (p.Tyr93Phe) c.98A>T (p.Tyr33Phe) n.336-147643A>T c.5006A>T (p.Tyr1669Phe) c.4661A>T (p.Tyr1554Phe) c.1007A>T (p.Tyr336Phe) c.4901A>T (p.Tyr1634Phe) | |
X | g.32364706T>C | CA412671695 | DMD | c.5030A>G (p.Tyr1677Cys) c.998A>G (p.Tyr333Cys) c.5018A>G (p.Tyr1673Cys) c.278A>G (p.Tyr93Cys) c.98A>G (p.Tyr33Cys) n.336-147643A>G c.5006A>G (p.Tyr1669Cys) c.4661A>G (p.Tyr1554Cys) c.1007A>G (p.Tyr336Cys) c.4901A>G (p.Tyr1634Cys) | |
X | g.32364706T>G | CA412671696 | DMD | c.5030A>C (p.Tyr1677Ser) c.998A>C (p.Tyr333Ser) c.5018A>C (p.Tyr1673Ser) c.278A>C (p.Tyr93Ser) c.98A>C (p.Tyr33Ser) n.336-147643A>C c.5006A>C (p.Tyr1669Ser) c.4661A>C (p.Tyr1554Ser) c.1007A>C (p.Tyr336Ser) c.4901A>C (p.Tyr1634Ser) | |
X | g.32364707A= | CA2422769949 | DMD | c.5029T= (p.Tyr1677=) c.997T= (p.Tyr333=) c.5017T= (p.Tyr1673=) c.277T= (p.Tyr93=) c.97T= (p.Tyr33=) n.336-147644T= c.5005T= (p.Tyr1669=) c.4660T= (p.Tyr1554=) c.1006T= (p.Tyr336=) c.4900T= (p.Tyr1634=) | |
X | g.32364707A>C | CA412671698 | DMD | c.5029T>G (p.Tyr1677Asp) c.997T>G (p.Tyr333Asp) c.5017T>G (p.Tyr1673Asp) c.277T>G (p.Tyr93Asp) c.97T>G (p.Tyr33Asp) n.336-147644T>G c.5005T>G (p.Tyr1669Asp) c.4660T>G (p.Tyr1554Asp) c.1006T>G (p.Tyr336Asp) c.4900T>G (p.Tyr1634Asp) | |
X | g.32364707A>G | CA10378784 | DMD | c.5029T>C (p.Tyr1677His) c.997T>C (p.Tyr333His) c.5017T>C (p.Tyr1673His) c.277T>C (p.Tyr93His) c.97T>C (p.Tyr33His) n.336-147644T>C c.5005T>C (p.Tyr1669His) c.4660T>C (p.Tyr1554His) c.1006T>C (p.Tyr336His) c.4900T>C (p.Tyr1634His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364707A>T | CA412671697 | DMD | c.5029T>A (p.Tyr1677Asn) c.997T>A (p.Tyr333Asn) c.5017T>A (p.Tyr1673Asn) c.277T>A (p.Tyr93Asn) c.97T>A (p.Tyr33Asn) n.336-147644T>A c.5005T>A (p.Tyr1669Asn) c.4660T>A (p.Tyr1554Asn) c.1006T>A (p.Tyr336Asn) c.4900T>A (p.Tyr1634Asn) | |
X | g.32364708T>A | CA412671699 | DMD | c.5028A>T (p.Glu1676Asp) c.996A>T (p.Glu332Asp) c.5016A>T (p.Glu1672Asp) c.276A>T (p.Glu92Asp) c.96A>T (p.Glu32Asp) n.336-147645A>T c.5004A>T (p.Glu1668Asp) c.4659A>T (p.Glu1553Asp) c.1005A>T (p.Glu335Asp) c.4899A>T (p.Glu1633Asp) | dbSNP gnomAD v4 |
X | g.32364708T>C | CA515714738 | DMD | c.5028A>G (p.Glu1676=) c.996A>G (p.Glu332=) c.5016A>G (p.Glu1672=) c.276A>G (p.Glu92=) c.96A>G (p.Glu32=) n.336-147645A>G c.5004A>G (p.Glu1668=) c.4659A>G (p.Glu1553=) c.1005A>G (p.Glu335=) c.4899A>G (p.Glu1633=) | |
X | g.32364708T>G | CA412671700 | DMD | c.5028A>C (p.Glu1676Asp) c.996A>C (p.Glu332Asp) c.5016A>C (p.Glu1672Asp) c.276A>C (p.Glu92Asp) c.96A>C (p.Glu32Asp) n.336-147645A>C c.5004A>C (p.Glu1668Asp) c.4659A>C (p.Glu1553Asp) c.1005A>C (p.Glu335Asp) c.4899A>C (p.Glu1633Asp) | |
X | g.32364709del | CA2695234099 | DMD | c.5028del (p.Glu1676AspfsTer?) c.996del (p.Glu332AspfsTer?) c.5016del (p.Glu1672AspfsTer?) c.276del (p.Glu92AspfsTer?) c.96del (p.Glu32AspfsTer?) n.336-147645del c.5004del (p.Glu1668AspfsTer?) c.4659del (p.Glu1553AspfsTer?) c.1005del (p.Glu335AspfsTer?) c.4899del (p.Glu1633AspfsTer?) | |
X | g.32364709T>A | CA412671701 | DMD | c.5027A>T (p.Glu1676Val) c.995A>T (p.Glu332Val) c.5015A>T (p.Glu1672Val) c.275A>T (p.Glu92Val) c.95A>T (p.Glu32Val) n.336-147646A>T c.5003A>T (p.Glu1668Val) c.4658A>T (p.Glu1553Val) c.1004A>T (p.Glu335Val) c.4898A>T (p.Glu1633Val) | |
X | g.32364709T>C | CA412671702 | DMD | c.5027A>G (p.Glu1676Gly) c.995A>G (p.Glu332Gly) c.5015A>G (p.Glu1672Gly) c.275A>G (p.Glu92Gly) c.95A>G (p.Glu32Gly) n.336-147646A>G c.5003A>G (p.Glu1668Gly) c.4658A>G (p.Glu1553Gly) c.1004A>G (p.Glu335Gly) c.4898A>G (p.Glu1633Gly) | |
X | g.32364709T>G | CA412671703 | DMD | c.5027A>C (p.Glu1676Ala) c.995A>C (p.Glu332Ala) c.5015A>C (p.Glu1672Ala) c.275A>C (p.Glu92Ala) c.95A>C (p.Glu32Ala) n.336-147646A>C c.5003A>C (p.Glu1668Ala) c.4658A>C (p.Glu1553Ala) c.1004A>C (p.Glu335Ala) c.4898A>C (p.Glu1633Ala) | |
X | g.32364710C>A | CA412671704 | DMD | c.5026G>T (p.Glu1676Ter) c.994G>T (p.Glu332Ter) c.5014G>T (p.Glu1672Ter) c.274G>T (p.Glu92Ter) c.94G>T (p.Glu32Ter) n.336-147647G>T c.5002G>T (p.Glu1668Ter) c.4657G>T (p.Glu1553Ter) c.1003G>T (p.Glu335Ter) c.4897G>T (p.Glu1633Ter) | ClinVar dbSNP |
X | g.32364710C= | CA2422769950 | DMD | c.5026G= (p.Glu1676=) c.994G= (p.Glu332=) c.5014G= (p.Glu1672=) c.274G= (p.Glu92=) c.94G= (p.Glu32=) n.336-147647G= c.5002G= (p.Glu1668=) c.4657G= (p.Glu1553=) c.1003G= (p.Glu335=) c.4897G= (p.Glu1633=) | |
X | g.32364710C>G | CA412671705 | DMD | c.5026G>C (p.Glu1676Gln) c.994G>C (p.Glu332Gln) c.5014G>C (p.Glu1672Gln) c.274G>C (p.Glu92Gln) c.94G>C (p.Glu32Gln) n.336-147647G>C c.5002G>C (p.Glu1668Gln) c.4657G>C (p.Glu1553Gln) c.1003G>C (p.Glu335Gln) c.4897G>C (p.Glu1633Gln) | |
X | g.32364710C>T | CA327995323 | DMD | c.5026G>A (p.Glu1676Lys) c.994G>A (p.Glu332Lys) c.5014G>A (p.Glu1672Lys) c.274G>A (p.Glu92Lys) c.94G>A (p.Glu32Lys) n.336-147647G>A c.5002G>A (p.Glu1668Lys) c.4657G>A (p.Glu1553Lys) c.1003G>A (p.Glu335Lys) c.4897G>A (p.Glu1633Lys) | dbSNP |
X | g.32364711C>A | CA412671706 | DMD | c.5026-1G>T (n.5026-1G>T) c.994-1G>T (n.994-1G>T) c.5014-1G>T (n.5014-1G>T) c.274-1G>T (n.274-1G>T) c.94-1G>T (n.94-1G>T) n.336-147648G>T c.5002-1G>T (n.5002-1G>T) c.4657-1G>T (n.4657-1G>T) c.1003-1G>T (n.1003-1G>T) c.4897-1G>T (n.4897-1G>T) | |
X | g.32364711C>G | CA412671707 | DMD | c.5026-1G>C (n.5026-1G>C) c.994-1G>C (n.994-1G>C) c.5014-1G>C (n.5014-1G>C) c.274-1G>C (n.274-1G>C) c.94-1G>C (n.94-1G>C) n.336-147648G>C c.5002-1G>C (n.5002-1G>C) c.4657-1G>C (n.4657-1G>C) c.1003-1G>C (n.1003-1G>C) c.4897-1G>C (n.4897-1G>C) | |
X | g.32364711C>T | CA412671708 | DMD | c.5026-1G>A (n.5026-1G>A) c.994-1G>A (n.994-1G>A) c.5014-1G>A (n.5014-1G>A) c.274-1G>A (n.274-1G>A) c.94-1G>A (n.94-1G>A) n.336-147648G>A c.5002-1G>A (n.5002-1G>A) c.4657-1G>A (n.4657-1G>A) c.1003-1G>A (n.1003-1G>A) c.4897-1G>A (n.4897-1G>A) | |
X | g.32364712T>A | CA412671709 | DMD | c.5026-2A>T (n.5026-2A>T) c.994-2A>T (n.994-2A>T) c.5014-2A>T (n.5014-2A>T) c.274-2A>T (n.274-2A>T) c.94-2A>T (n.94-2A>T) n.336-147649A>T c.5002-2A>T (n.5002-2A>T) c.4657-2A>T (n.4657-2A>T) c.1003-2A>T (n.1003-2A>T) c.4897-2A>T (n.4897-2A>T) | |
X | g.32364712T>C | CA412671710 | DMD | c.5026-2A>G (n.5026-2A>G) c.994-2A>G (n.994-2A>G) c.5014-2A>G (n.5014-2A>G) c.274-2A>G (n.274-2A>G) c.94-2A>G (n.94-2A>G) n.336-147649A>G c.5002-2A>G (n.5002-2A>G) c.4657-2A>G (n.4657-2A>G) c.1003-2A>G (n.1003-2A>G) c.4897-2A>G (n.4897-2A>G) | ClinVar dbSNP |
X | g.32364712T>G | CA412671711 | DMD | c.5026-2A>C (n.5026-2A>C) c.994-2A>C (n.994-2A>C) c.5014-2A>C (n.5014-2A>C) c.274-2A>C (n.274-2A>C) c.94-2A>C (n.94-2A>C) n.336-147649A>C c.5002-2A>C (n.5002-2A>C) c.4657-2A>C (n.4657-2A>C) c.1003-2A>C (n.1003-2A>C) c.4897-2A>C (n.4897-2A>C) | |
X | g.32364712T= | CA2422769951 | DMD | c.5026-2A= (n.5026-2A=) c.994-2A= (n.994-2A=) c.5014-2A= (n.5014-2A=) c.274-2A= (n.274-2A=) c.94-2A= (n.94-2A=) n.336-147649A= c.5002-2A= (n.5002-2A=) c.4657-2A= (n.4657-2A=) c.1003-2A= (n.1003-2A=) c.4897-2A= (n.4897-2A=) | |
X | g.32364715A= | CA2422769952 | DMD | c.5026-5T= (n.5026-5T=) c.994-5T= (n.994-5T=) c.5014-5T= (n.5014-5T=) c.274-5T= (n.274-5T=) c.94-5T= (n.94-5T=) n.336-147652T= c.5002-5T= (n.5002-5T=) c.4657-5T= (n.4657-5T=) c.1003-5T= (n.1003-5T=) c.4897-5T= (n.4897-5T=) | |
X | g.32364715A>G | CA640966165 | DMD | c.5026-5T>C (n.5026-5T>C) c.994-5T>C (n.994-5T>C) c.5014-5T>C (n.5014-5T>C) c.274-5T>C (n.274-5T>C) c.94-5T>C (n.94-5T>C) n.336-147652T>C c.5002-5T>C (n.5002-5T>C) c.4657-5T>C (n.4657-5T>C) c.1003-5T>C (n.1003-5T>C) c.4897-5T>C (n.4897-5T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364716T>C | CA2695234100 | DMD | c.5026-6A>G (n.5026-6A>G) c.994-6A>G (n.994-6A>G) c.5014-6A>G (n.5014-6A>G) c.274-6A>G (n.274-6A>G) c.94-6A>G (n.94-6A>G) n.336-147653A>G c.5002-6A>G (n.5002-6A>G) c.4657-6A>G (n.4657-6A>G) c.1003-6A>G (n.1003-6A>G) c.4897-6A>G (n.4897-6A>G) | |
X | g.32364717T>C | CA222422 | DMD | c.5026-7A>G (n.5026-7A>G) c.994-7A>G (n.994-7A>G) c.5014-7A>G (n.5014-7A>G) c.274-7A>G (n.274-7A>G) c.94-7A>G (n.94-7A>G) n.336-147654A>G c.5002-7A>G (n.5002-7A>G) c.4657-7A>G (n.4657-7A>G) c.1003-7A>G (n.1003-7A>G) c.4897-7A>G (n.4897-7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.32364717T= | CA2422769953 | DMD | c.5026-7A= (n.5026-7A=) c.994-7A= (n.994-7A=) c.5014-7A= (n.5014-7A=) c.274-7A= (n.274-7A=) c.94-7A= (n.94-7A=) n.336-147654A= c.5002-7A= (n.5002-7A=) c.4657-7A= (n.4657-7A=) c.1003-7A= (n.1003-7A=) c.4897-7A= (n.4897-7A=) | |
X | g.32364718G>A | CA16609177 | DMD | c.5026-8C>T (n.5026-8C>T) c.994-8C>T (n.994-8C>T) c.5014-8C>T (n.5014-8C>T) c.274-8C>T (n.274-8C>T) c.94-8C>T (n.94-8C>T) n.336-147655C>T c.5002-8C>T (n.5002-8C>T) c.4657-8C>T (n.4657-8C>T) c.1003-8C>T (n.1003-8C>T) c.4897-8C>T (n.4897-8C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.32364718G= | CA2422769954 | DMD | c.5026-8C= (n.5026-8C=) c.994-8C= (n.994-8C=) c.5014-8C= (n.5014-8C=) c.274-8C= (n.274-8C=) c.94-8C= (n.94-8C=) n.336-147655C= c.5002-8C= (n.5002-8C=) c.4657-8C= (n.4657-8C=) c.1003-8C= (n.1003-8C=) c.4897-8C= (n.4897-8C=) | |
X | g.32364720A>C | CA2693407108 | DMD | c.5026-10T>G (n.5026-10T>G) c.994-10T>G (n.994-10T>G) c.5014-10T>G (n.5014-10T>G) c.274-10T>G (n.274-10T>G) c.94-10T>G (n.94-10T>G) n.336-147657T>G c.5002-10T>G (n.5002-10T>G) c.4657-10T>G (n.4657-10T>G) c.1003-10T>G (n.1003-10T>G) c.4897-10T>G (n.4897-10T>G) | ClinVar gnomAD v4 |
X | g.32364721_32364722del | CA2693407107 | DMD | c.5026-11_5026-10del (n.5026-11_5026-10del) c.994-11_994-10del (n.994-11_994-10del) c.5014-11_5014-10del (n.5014-11_5014-10del) c.274-11_274-10del (n.274-11_274-10del) c.94-11_94-10del (n.94-11_94-10del) n.336-147658_336-147657del c.5002-11_5002-10del (n.5002-11_5002-10del) c.4657-11_4657-10del (n.4657-11_4657-10del) c.1003-11_1003-10del (n.1003-11_1003-10del) c.4897-11_4897-10del (n.4897-11_4897-10del) | gnomAD v4 |
X | g.32364722A= | CA2422769955 | DMD | c.5026-12T= (n.5026-12T=) c.994-12T= (n.994-12T=) c.5014-12T= (n.5014-12T=) c.274-12T= (n.274-12T=) c.94-12T= (n.94-12T=) n.336-147659T= c.5002-12T= (n.5002-12T=) c.4657-12T= (n.4657-12T=) c.1003-12T= (n.1003-12T=) c.4897-12T= (n.4897-12T=) | |
X | g.32364722A>G | CA10378785 | DMD | c.5026-12T>C (n.5026-12T>C) c.994-12T>C (n.994-12T>C) c.5014-12T>C (n.5014-12T>C) c.274-12T>C (n.274-12T>C) c.94-12T>C (n.94-12T>C) n.336-147659T>C c.5002-12T>C (n.5002-12T>C) c.4657-12T>C (n.4657-12T>C) c.1003-12T>C (n.1003-12T>C) c.4897-12T>C (n.4897-12T>C) | dbSNP ExAC gnomAD v2 |
X | g.32364723G>A | CA2693407109 | DMD | c.5026-13C>T (n.5026-13C>T) c.994-13C>T (n.994-13C>T) c.5014-13C>T (n.5014-13C>T) c.274-13C>T (n.274-13C>T) c.94-13C>T (n.94-13C>T) n.336-147660C>T c.5002-13C>T (n.5002-13C>T) c.4657-13C>T (n.4657-13C>T) c.1003-13C>T (n.1003-13C>T) c.4897-13C>T (n.4897-13C>T) | gnomAD v4 |
X | g.32364725G>A | CA2738489301 | DMD | c.5026-15C>T (n.5026-15C>T) c.994-15C>T (n.994-15C>T) c.5014-15C>T (n.5014-15C>T) c.274-15C>T (n.274-15C>T) c.94-15C>T (n.94-15C>T) n.336-147662C>T c.5002-15C>T (n.5002-15C>T) c.4657-15C>T (n.4657-15C>T) c.1003-15C>T (n.1003-15C>T) c.4897-15C>T (n.4897-15C>T) | dbSNP |
X | g.32364726A>C | CA2693407110 | DMD | c.5026-16T>G (n.5026-16T>G) c.994-16T>G (n.994-16T>G) c.5014-16T>G (n.5014-16T>G) c.274-16T>G (n.274-16T>G) c.94-16T>G (n.94-16T>G) n.336-147663T>G c.5002-16T>G (n.5002-16T>G) c.4657-16T>G (n.4657-16T>G) c.1003-16T>G (n.1003-16T>G) c.4897-16T>G (n.4897-16T>G) | gnomAD v4 |
X | g.32364727C>A | CA640966167 | DMD | c.5026-17G>T (n.5026-17G>T) c.994-17G>T (n.994-17G>T) c.5014-17G>T (n.5014-17G>T) c.274-17G>T (n.274-17G>T) c.94-17G>T (n.94-17G>T) n.336-147664G>T c.5002-17G>T (n.5002-17G>T) c.4657-17G>T (n.4657-17G>T) c.1003-17G>T (n.1003-17G>T) c.4897-17G>T (n.4897-17G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.32364727C= | CA2422769956 | DMD | c.5026-17G= (n.5026-17G=) c.994-17G= (n.994-17G=) c.5014-17G= (n.5014-17G=) c.274-17G= (n.274-17G=) c.94-17G= (n.94-17G=) n.336-147664G= c.5002-17G= (n.5002-17G=) c.4657-17G= (n.4657-17G=) c.1003-17G= (n.1003-17G=) c.4897-17G= (n.4897-17G=) | |
X | g.32364729T>C | CA2422769958 | DMD | c.5026-19A>G (n.5026-19A>G) c.994-19A>G (n.994-19A>G) c.5014-19A>G (n.5014-19A>G) c.274-19A>G (n.274-19A>G) c.94-19A>G (n.94-19A>G) n.336-147666A>G c.5002-19A>G (n.5002-19A>G) c.4657-19A>G (n.4657-19A>G) c.1003-19A>G (n.1003-19A>G) c.4897-19A>G (n.4897-19A>G) | dbSNP gnomAD v4 |
X | g.32364729T= | CA2422769957 | DMD | c.5026-19A= (n.5026-19A=) c.994-19A= (n.994-19A=) c.5014-19A= (n.5014-19A=) c.274-19A= (n.274-19A=) c.94-19A= (n.94-19A=) n.336-147666A= c.5002-19A= (n.5002-19A=) c.4657-19A= (n.4657-19A=) c.1003-19A= (n.1003-19A=) c.4897-19A= (n.4897-19A=) |