Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32364629C>ACA412671515DMDc.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
Xg.32364629C>GCA412671516DMDc.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)
Xg.32364629C>TCA412671517DMDc.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
Xg.32364630C>ACA412671518DMDc.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)
Xg.32364630C>GCA412671519DMDc.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)
Xg.32364630C>TCA515714704DMDc.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=)
Xg.32364631A>CCA412671522DMDc.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)
Xg.32364631A>GCA412671520DMDc.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)
Xg.32364631A>TCA412671521DMDc.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)
Xg.32364633_32364634delCA2573158564DMDc.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
Xg.32364632A=CA2422769912DMDc.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=)
Xg.32364632A>CCA412671523DMDc.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)
Xg.32364632A>GCA10378775DMDc.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
Xg.32364632A>TCA412671524DMDc.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)
Xg.32364633A>CCA515714705DMDc.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=)
Xg.32364633A>GCA515714706DMDc.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=)
Xg.32364633A>TCA515714707DMDc.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=)
Xg.32364634A>CCA412671525DMDc.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)
Xg.32364634A>GCA412671526DMDc.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)
Xg.32364634A>TCA412671527DMDc.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)
Xg.32364634_32364636delinsAGTCA2422769913DMDc.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=)
Xg.32364635delCA2695234093DMDc.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)
Xg.32364635G>ACA412671528DMDc.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
Xg.32364635G>CCA412671529DMDc.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)
Xg.32364635G>TCA412671530DMDc.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)
Xg.32364639_32364640delCA16616678DMDc.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
Xg.32364636T>ACA515714710DMDc.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=)
Xg.32364636T>CCA515714709DMDc.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
Xg.32364636T>GCA515714708DMDc.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
Xg.32364636T=CA2422769914DMDc.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=)
Xg.32364637G>ACA412671533DMDc.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)
Xg.32364637G>CCA412671532DMDc.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)
Xg.32364637G>TCA412671531DMDc.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)
Xg.32364637_32364639delinsGTGCA2422769915DMDc.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=)
Xg.32364638T>ACA412671534DMDc.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)
Xg.32364638T>CCA412671535DMDc.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)
Xg.32364638T>GCA412671536DMDc.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)
Xg.32364638_32364639delinsAATGAATTCATTCATCA327995214DMDc.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
Xg.32364639G>ACA515714711DMDc.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=)
Xg.32364639G>CCA412671537DMDc.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)
Xg.32364639G=CA2422769916DMDc.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=)
Xg.32364639G>TCA308355DMDc.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
Xg.32364639dupCA2695234094DMDc.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)
Xg.32364640T>ACA412671538DMDc.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)
Xg.32364640T>CCA412671539DMDc.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
Xg.32364640T>GCA412671540DMDc.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)
Xg.32364641C>ACA412671541DMDc.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)
Xg.32364641C>GCA412671542DMDc.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)
Xg.32364641C>TCA412671543DMDc.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
Xg.32364642A=CA2422769917DMDc.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=)
Xg.32364642A>CCA515714712DMDc.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
Xg.32364642A>GCA515714713DMDc.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
Xg.32364642A>TCA515714714DMDc.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=)
Xg.32364643G>ACA412671546DMDc.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
Xg.32364643G>CCA412671545DMDc.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
Xg.32364643G=CA2422769918DMDc.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=)
Xg.32364643G>TCA412671544DMDc.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
Xg.32364644C>ACA412671547DMDc.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)
Xg.32364644C>GCA412671548DMDc.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)
Xg.32364644C>TCA412671549DMDc.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
Xg.32364645delCA2695234095DMDc.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)
Xg.32364645C>ACA10378776DMDc.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
Xg.32364645C=CA2422769919DMDc.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=)
Xg.32364645C>GCA412671550DMDc.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
Xg.32364645C>TCA515714715DMDc.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=)
Xg.32364646T>ACA412671551DMDc.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)
Xg.32364646T>CCA412671552DMDc.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)
Xg.32364646T>GCA412671553DMDc.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
Xg.32364647G>ACA10604112DMDc.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
Xg.32364647G>CCA412671554DMDc.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)
Xg.32364647G=CA2422769920DMDc.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=)
Xg.32364647G>TCA412671555DMDc.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)
Xg.32364648A>CCA412671556DMDc.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)
Xg.32364648A>GCA515714716DMDc.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=)
Xg.32364648A>TCA515714717DMDc.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=)
Xg.32364649A>CCA412671558DMDc.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)
Xg.32364649A>GCA412671559DMDc.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)
Xg.32364649A>TCA412671557DMDc.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)
Xg.32364650delCA2695234096DMDc.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)
Xg.32364650T>ACA327995224DMDc.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
Xg.32364650T>CCA412671560DMDc.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)
Xg.32364650T>GCA412671561DMDc.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)
Xg.32364650T=CA2422769921DMDc.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=)
Xg.32364651G>ACA515714718DMDc.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
Xg.32364651G>CCA412671562DMDc.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
Xg.32364651G=CA2422769922DMDc.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=)
Xg.32364651G>TCA515714719DMDc.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=)
Xg.32364652A=CA2422769923DMDc.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=)
Xg.32364652A>CCA412671563DMDc.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)
Xg.32364652A>GCA412671564DMDc.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)
Xg.32364652A>TCA412671565DMDc.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
Xg.32364653T>ACA412671566DMDc.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)
Xg.32364653T>CCA412671567DMDc.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
Xg.32364653T>GCA412671568DMDc.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
Xg.32364653T=CA2422769924DMDc.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=)
Xg.32364654C>ACA412671569DMDc.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
Xg.32364654C=CA2422769925DMDc.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=)
Xg.32364654C>GCA412671570DMDc.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)
Xg.32364654C>TCA412671571DMDc.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
Xg.32364655C>ACA412671574DMDc.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)
Xg.32364655C>GCA412671573DMDc.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)
Xg.32364655C>TCA412671572DMDc.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
Xg.32364656A>CCA412671575DMDc.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)
Xg.32364656A>GCA412671576DMDc.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)
Xg.32364656A>TCA412671577DMDc.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)
Xg.32364657C>ACA412671578DMDc.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)
Xg.32364657C>GCA412671579DMDc.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)
Xg.32364657C>TCA515714720DMDc.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=)
Xg.32364658_32364659insGTACAATTTGGACATTACTTTTCATATTTTATTTGCTACCTTAAGCACGTCTTCTCA2697552968DMDc.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
Xg.32364658T>ACA412671580DMDc.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
Xg.32364658T>CCA412671581DMDc.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)
Xg.32364658T>GCA412671582DMDc.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)
Xg.32364660delCA2573158565DMDc.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
Xg.32364659T>ACA412671583DMDc.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)
Xg.32364659T>CCA412671584DMDc.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
Xg.32364659T>GCA412671585DMDc.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)
Xg.32364660T>ACA515714722DMDc.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=)
Xg.32364660T>CCA10378777DMDc.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
Xg.32364660T>GCA515714721DMDc.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=)
Xg.32364660T=CA2422769926DMDc.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=)
Xg.32364661G>ACA412671587DMDc.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)
Xg.32364661G>CCA10378778DMDc.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
Xg.32364661G=CA2422769927DMDc.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=)
Xg.32364661G>TCA412671586DMDc.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)
Xg.32364662T>ACA412671588DMDc.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)
Xg.32364662T>CCA10378779DMDc.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
Xg.32364662T>GCA412671589DMDc.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
Xg.32364662T=CA2422769928DMDc.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=)
Xg.32364663G>ACA515714723DMDc.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=)
Xg.32364663G>CCA412671590DMDc.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)
Xg.32364663G>TCA515714724DMDc.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
Xg.32364664A>CCA412671591DMDc.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)
Xg.32364664A>GCA412671592DMDc.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)
Xg.32364664A>TCA412671593DMDc.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)
Xg.32364665T>ACA412671594DMDc.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)
Xg.32364665T>CCA412671596DMDc.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)
Xg.32364665T>GCA412671595DMDc.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)
Xg.32364665dupCA2695234097DMDc.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)
Xg.32364665_32364668delinsTGTGCA2422769929DMDc.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=)
Xg.32364666G>ACA327995252DMDc.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
Xg.32364666G>CCA412671597DMDc.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)
Xg.32364666G=CA2422769930DMDc.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=)
Xg.32364666G>TCA412671598DMDc.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
Xg.32364668_32364670delCA10378780DMDc.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
Xg.32364667T>ACA412671599DMDc.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
Xg.32364667T>CCA412671601DMDc.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)
Xg.32364667T>GCA412671600DMDc.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)
Xg.32364667T=CA2422769931DMDc.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=)
Xg.32364668G>ACA412671602DMDc.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)
Xg.32364668G>CCA412671603DMDc.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)
Xg.32364668G>TCA412671604DMDc.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)
Xg.32364669G>ACA515714725DMDc.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=)
Xg.32364669G>CCA412671605DMDc.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)
Xg.32364669G>TCA412671606DMDc.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)
Xg.32364670delCA2695234098DMDc.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?)
Xg.32364670T>ACA412671607DMDc.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)
Xg.32364670T>CCA412671608DMDc.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)
Xg.32364670T>GCA412671609DMDc.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)
Xg.32364670T=CA2422769932DMDc.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=)
Xg.32364671C>ACA412671610DMDc.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
Xg.32364671C=CA2422769934DMDc.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=)
Xg.32364671C>GCA412671611DMDc.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)
Xg.32364671C>TCA412671612DMDc.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)
Xg.32364672dupCA2422769933DMDc.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
Xg.32364672C>ACA10606646DMDc.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
Xg.32364672C=CA2422769935DMDc.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=)
Xg.32364672C>GCA515714726DMDc.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=)
Xg.32364672C>TCA515714727DMDc.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=)
Xg.32364673A=CA2422769936DMDc.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=)
Xg.32364673A>CCA412671614DMDc.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)
Xg.32364673A>GCA10378781DMDc.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
Xg.32364673A>TCA412671613DMDc.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)
Xg.32364674C>ACA412671617DMDc.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)
Xg.32364674C>GCA412671615DMDc.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)
Xg.32364674C>TCA412671616DMDc.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)
Xg.32364675A>CCA412671618DMDc.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)
Xg.32364675A>GCA515714728DMDc.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=)
Xg.32364675A>TCA412671619DMDc.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)
Xg.32364676T>ACA412671620DMDc.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
Xg.32364676T>CCA412671621DMDc.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)
Xg.32364676T>GCA412671622DMDc.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)
Xg.32364676T=CA2422769937DMDc.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=)
Xg.32364677delCA2580616932DMDc.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
Xg.32364677T>ACA412671625DMDc.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)
Xg.32364677T>CCA412671623DMDc.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)
Xg.32364677T>GCA412671624DMDc.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)
Xg.32364678C>ACA412671626DMDc.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
Xg.32364678C=CA2422769938DMDc.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=)
Xg.32364678C>GCA412671627DMDc.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
Xg.32364678C>TCA515714729DMDc.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
Xg.32364679T>ACA412671628DMDc.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)
Xg.32364679T>CCA412671629DMDc.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)
Xg.32364679T>GCA412671630DMDc.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)
Xg.32364680G>ACA412671631DMDc.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
Xg.32364680G>CCA412671633DMDc.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)
Xg.32364680G=CA2422769939DMDc.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=)
Xg.32364680G>TCA412671632DMDc.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)
Xg.32364681G>ACA515714730DMDc.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
Xg.32364681G>CCA412671634DMDc.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)
Xg.32364681G=CA2422769940DMDc.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=)
Xg.32364681G>TCA412671635DMDc.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)
Xg.32364682T>ACA412671636DMDc.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
Xg.32364682T>CCA412671637DMDc.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)
Xg.32364682T>GCA412671638DMDc.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)
Xg.32364683C>ACA412671639DMDc.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
Xg.32364683C>GCA412671640DMDc.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)
Xg.32364683C>TCA412671641DMDc.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)
Xg.32364683_32364684delinsCACA2422769941DMDc.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=)
Xg.32364684A>CCA412671642DMDc.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)
Xg.32364684A>GCA515714731DMDc.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=)
Xg.32364684A>TCA412671643DMDc.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)
Xg.32364687delCA267050DMDc.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
Xg.32364685A=CA2422769942DMDc.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=)
Xg.32364685A>CCA412671644DMDc.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)
Xg.32364685A>GCA327995288DMDc.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
Xg.32364685A>TCA412671645DMDc.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)
Xg.32364686A>CCA412671646DMDc.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)
Xg.32364686A>GCA412671647DMDc.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)
Xg.32364686A>TCA412671648DMDc.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)
Xg.32364687A>CCA515714732DMDc.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=)
Xg.32364687A>GCA515714733DMDc.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=)
Xg.32364687A>TCA515714734DMDc.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=)
Xg.32364688delCA2580616933DMDc.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
Xg.32364688G>ACA412671649DMDc.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
Xg.32364688G>CCA10378782DMDc.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
Xg.32364688G=CA2422769943DMDc.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=)
Xg.32364688G>TCA412671650DMDc.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)
Xg.32364689T>ACA412671651DMDc.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
Xg.32364689T>CCA412671652DMDc.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
Xg.32364689T>GCA10646120DMDc.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
Xg.32364689T=CA2422769944DMDc.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=)
Xg.32364690T>ACA412671653DMDc.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)
Xg.32364690T>CCA515714735DMDc.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=)
Xg.32364690T>GCA412671654DMDc.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)
Xg.32364691T>ACA412671657DMDc.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)
Xg.32364691T>CCA412671656DMDc.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)
Xg.32364691T>GCA412671655DMDc.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
Xg.32364692C>ACA412671658DMDc.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
Xg.32364692C>GCA412671659DMDc.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)
Xg.32364692C>TCA412671660DMDc.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
Xg.32364693C>ACA412671661DMDc.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
Xg.32364693C=CA2422769945DMDc.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=)
Xg.32364693C>GCA412671662DMDc.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)
Xg.32364693C>TCA327995299DMDc.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
Xg.32364694A>CCA412671663DMDc.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)
Xg.32364694A>GCA412671664DMDc.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)
Xg.32364694A>TCA412671665DMDc.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)
Xg.32364695T>ACA412671666DMDc.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)
Xg.32364695T>CCA412671667DMDc.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
Xg.32364695T>GCA412671668DMDc.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)
Xg.32364696G>ACA16616680DMDc.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
Xg.32364696G>CCA412671670DMDc.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)
Xg.32364696G=CA2422769946DMDc.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=)
Xg.32364696G>TCA412671669DMDc.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
Xg.32364697T>ACA412671673DMDc.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)
Xg.32364697T>CCA412671671DMDc.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)
Xg.32364697T>GCA412671672DMDc.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)
Xg.32364698G>ACA412671674DMDc.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
Xg.32364698G>CCA412671675DMDc.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)
Xg.32364698G>TCA412671676DMDc.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)
Xg.32364699T>ACA412671677DMDc.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)
Xg.32364699T>CCA515714736DMDc.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=)
Xg.32364699T>GCA412671678DMDc.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)
Xg.32364700T>ACA412671679DMDc.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)
Xg.32364700T>CCA412671680DMDc.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)
Xg.32364700T>GCA412671681DMDc.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)
Xg.32364701T>ACA412671682DMDc.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)
Xg.32364701T>CCA412671683DMDc.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)
Xg.32364701T>GCA412671684DMDc.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)
Xg.32364702C>ACA412671685DMDc.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)
Xg.32364702C>GCA412671686DMDc.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
Xg.32364702C>TCA515714737DMDc.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=)
Xg.32364703T>ACA412671687DMDc.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)
Xg.32364703T>CCA412671688DMDc.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)
Xg.32364703T>GCA412671689DMDc.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
Xg.32364704G>ACA10603873DMDc.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
Xg.32364704G>CCA412671690DMDc.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
Xg.32364704G=CA2422769947DMDc.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=)
Xg.32364704G>TCA412671691DMDc.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)
Xg.32364705G>ACA10378783DMDc.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
Xg.32364705G>CCA412671692DMDc.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
Xg.32364705G=CA2422769948DMDc.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=)
Xg.32364705G>TCA412671693DMDc.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
Xg.32364706T>ACA412671694DMDc.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)
Xg.32364706T>CCA412671695DMDc.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)
Xg.32364706T>GCA412671696DMDc.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)
Xg.32364707A=CA2422769949DMDc.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=)
Xg.32364707A>CCA412671698DMDc.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)
Xg.32364707A>GCA10378784DMDc.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
Xg.32364707A>TCA412671697DMDc.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)
Xg.32364708T>ACA412671699DMDc.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
Xg.32364708T>CCA515714738DMDc.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=)
Xg.32364708T>GCA412671700DMDc.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)
Xg.32364709delCA2695234099DMDc.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?)
Xg.32364709T>ACA412671701DMDc.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)
Xg.32364709T>CCA412671702DMDc.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)
Xg.32364709T>GCA412671703DMDc.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)
Xg.32364710C>ACA412671704DMDc.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
Xg.32364710C=CA2422769950DMDc.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=)
Xg.32364710C>GCA412671705DMDc.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)
Xg.32364710C>TCA327995323DMDc.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
Xg.32364711C>ACA412671706DMDc.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)
Xg.32364711C>GCA412671707DMDc.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)
Xg.32364711C>TCA412671708DMDc.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)
Xg.32364712T>ACA412671709DMDc.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)
Xg.32364712T>CCA412671710DMDc.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
Xg.32364712T>GCA412671711DMDc.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)
Xg.32364712T=CA2422769951DMDc.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=)
Xg.32364715A=CA2422769952DMDc.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=)
Xg.32364715A>GCA640966165DMDc.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
Xg.32364716T>CCA2695234100DMDc.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)
Xg.32364717T>CCA222422DMDc.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
Xg.32364717T=CA2422769953DMDc.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=)
Xg.32364718G>ACA16609177DMDc.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
Xg.32364718G=CA2422769954DMDc.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=)
Xg.32364720A>CCA2693407108DMDc.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
Xg.32364721_32364722delCA2693407107DMDc.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
Xg.32364722A=CA2422769955DMDc.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=)
Xg.32364722A>GCA10378785DMDc.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
Xg.32364723G>ACA2693407109DMDc.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
Xg.32364725G>ACA2738489301DMDc.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
Xg.32364726A>CCA2693407110DMDc.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
Xg.32364727C>ACA640966167DMDc.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
Xg.32364727C=CA2422769956DMDc.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=)
Xg.32364729T>CCA2422769958DMDc.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
Xg.32364729T=CA2422769957DMDc.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=)

Number of alleles fetched