Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.31444543G>ACA412655162DMDc.3868C>T (p.Gln1290Ter)
c.1642C>T (p.Gln548Ter)
n.2487C>T
n.2514C>T
c.877C>T (p.Gln293Ter)
c.9022C>T (p.Gln3008Ter)
c.4990C>T (p.Gln1664Ter)
n.2683C>T
c.835C>T (p.Gln279Ter)
c.2110C>T (p.Gln704Ter)
c.9010C>T (p.Gln3004Ter)
c.9007C>T (p.Gln3003Ter)
c.9019C>T (p.Gln3007Ter)
c.8998C>T (p.Gln3000Ter)
c.8653C>T (p.Gln2885Ter)
c.4999C>T (p.Gln1667Ter)
c.8893C>T (p.Gln2965Ter)
c.8884C>T (p.Gln2962Ter)
c.8899C>T (p.Gln2967Ter)
c.3196C>T (p.Gln1066Ter)
 ClinVar dbSNP
Xg.31444543G>CCA412655160DMDc.3868C>G (p.Gln1290Glu)
c.1642C>G (p.Gln548Glu)
n.2487C>G
n.2514C>G
c.877C>G (p.Gln293Glu)
c.9022C>G (p.Gln3008Glu)
c.4990C>G (p.Gln1664Glu)
n.2683C>G
c.835C>G (p.Gln279Glu)
c.2110C>G (p.Gln704Glu)
c.9010C>G (p.Gln3004Glu)
c.9007C>G (p.Gln3003Glu)
c.9019C>G (p.Gln3007Glu)
c.8998C>G (p.Gln3000Glu)
c.8653C>G (p.Gln2885Glu)
c.4999C>G (p.Gln1667Glu)
c.8893C>G (p.Gln2965Glu)
c.8884C>G (p.Gln2962Glu)
c.8899C>G (p.Gln2967Glu)
c.3196C>G (p.Gln1066Glu)
Xg.31444543G=CA2422434050DMDc.3868C= (p.Gln1290=)
c.1642C= (p.Gln548=)
n.2487C=
n.2514C=
c.877C= (p.Gln293=)
c.9022C= (p.Gln3008=)
c.4990C= (p.Gln1664=)
n.2683C=
c.835C= (p.Gln279=)
c.2110C= (p.Gln704=)
c.9010C= (p.Gln3004=)
c.9007C= (p.Gln3003=)
c.9019C= (p.Gln3007=)
c.8998C= (p.Gln3000=)
c.8653C= (p.Gln2885=)
c.4999C= (p.Gln1667=)
c.8893C= (p.Gln2965=)
c.8884C= (p.Gln2962=)
c.8899C= (p.Gln2967=)
c.3196C= (p.Gln1066=)
Xg.31444543G>TCA412655161DMDc.3868C>A (p.Gln1290Lys)
c.1642C>A (p.Gln548Lys)
n.2487C>A
n.2514C>A
c.877C>A (p.Gln293Lys)
c.9022C>A (p.Gln3008Lys)
c.4990C>A (p.Gln1664Lys)
n.2683C>A
c.835C>A (p.Gln279Lys)
c.2110C>A (p.Gln704Lys)
c.9010C>A (p.Gln3004Lys)
c.9007C>A (p.Gln3003Lys)
c.9019C>A (p.Gln3007Lys)
c.8998C>A (p.Gln3000Lys)
c.8653C>A (p.Gln2885Lys)
c.4999C>A (p.Gln1667Lys)
c.8893C>A (p.Gln2965Lys)
c.8884C>A (p.Gln2962Lys)
c.8899C>A (p.Gln2967Lys)
c.3196C>A (p.Gln1066Lys)
Xg.31444544A>CCA412655163DMDc.3867T>G (p.Ile1289Met)
c.1641T>G (p.Ile547Met)
n.2486T>G
n.2513T>G
c.876T>G (p.Ile292Met)
c.9021T>G (p.Ile3007Met)
c.4989T>G (p.Ile1663Met)
n.2682T>G
c.834T>G (p.Ile278Met)
c.2109T>G (p.Ile703Met)
c.9009T>G (p.Ile3003Met)
c.9006T>G (p.Ile3002Met)
c.9018T>G (p.Ile3006Met)
c.8997T>G (p.Ile2999Met)
c.8652T>G (p.Ile2884Met)
c.4998T>G (p.Ile1666Met)
c.8892T>G (p.Ile2964Met)
c.8883T>G (p.Ile2961Met)
c.8898T>G (p.Ile2966Met)
c.3195T>G (p.Ile1065Met)
Xg.31444544A>GCA515858237DMDc.3867T>C (p.Ile1289=)
c.1641T>C (p.Ile547=)
n.2486T>C
n.2513T>C
c.876T>C (p.Ile292=)
c.9021T>C (p.Ile3007=)
c.4989T>C (p.Ile1663=)
n.2682T>C
c.834T>C (p.Ile278=)
c.2109T>C (p.Ile703=)
c.9009T>C (p.Ile3003=)
c.9006T>C (p.Ile3002=)
c.9018T>C (p.Ile3006=)
c.8997T>C (p.Ile2999=)
c.8652T>C (p.Ile2884=)
c.4998T>C (p.Ile1666=)
c.8892T>C (p.Ile2964=)
c.8883T>C (p.Ile2961=)
c.8898T>C (p.Ile2966=)
c.3195T>C (p.Ile1065=)
Xg.31444544A>TCA515858238DMDc.3867T>A (p.Ile1289=)
c.1641T>A (p.Ile547=)
n.2486T>A
n.2513T>A
c.876T>A (p.Ile292=)
c.9021T>A (p.Ile3007=)
c.4989T>A (p.Ile1663=)
n.2682T>A
c.834T>A (p.Ile278=)
c.2109T>A (p.Ile703=)
c.9009T>A (p.Ile3003=)
c.9006T>A (p.Ile3002=)
c.9018T>A (p.Ile3006=)
c.8997T>A (p.Ile2999=)
c.8652T>A (p.Ile2884=)
c.4998T>A (p.Ile1666=)
c.8892T>A (p.Ile2964=)
c.8883T>A (p.Ile2961=)
c.8898T>A (p.Ile2966=)
c.3195T>A (p.Ile1065=)
Xg.31444545delCA2573055259DMDc.3867del (p.Gln1290SerfsTer13)
c.1641del (p.Gln548SerfsTer13)
n.2486del
n.2513del
c.876del (p.Gln293SerfsTer13)
c.9021del (p.Gln3008SerfsTer13)
c.4989del (p.Gln1664SerfsTer13)
n.2682del
c.834del (p.Gln279SerfsTer13)
c.2109del (p.Gln704SerfsTer13)
c.9009del (p.Gln3004SerfsTer13)
c.9006del (p.Gln3003SerfsTer13)
c.9018del (p.Gln3007SerfsTer13)
c.8997del (p.Gln3000SerfsTer13)
c.8652del (p.Gln2885SerfsTer13)
c.4998del (p.Gln1667SerfsTer13)
c.8892del (p.Gln2965SerfsTer13)
c.8883del (p.Gln2962SerfsTer13)
c.8898del (p.Gln2967SerfsTer13)
c.3195del (p.Gln1066SerfsTer13)
 dbSNP
Xg.31444545A>CCA412655164DMDc.3866T>G (p.Ile1289Ser)
c.1640T>G (p.Ile547Ser)
n.2485T>G
n.2512T>G
c.875T>G (p.Ile292Ser)
c.9020T>G (p.Ile3007Ser)
c.4988T>G (p.Ile1663Ser)
n.2681T>G
c.833T>G (p.Ile278Ser)
c.2108T>G (p.Ile703Ser)
c.9008T>G (p.Ile3003Ser)
c.9005T>G (p.Ile3002Ser)
c.9017T>G (p.Ile3006Ser)
c.8996T>G (p.Ile2999Ser)
c.8651T>G (p.Ile2884Ser)
c.4997T>G (p.Ile1666Ser)
c.8891T>G (p.Ile2964Ser)
c.8882T>G (p.Ile2961Ser)
c.8897T>G (p.Ile2966Ser)
c.3194T>G (p.Ile1065Ser)
Xg.31444545A>GCA412655165DMDc.3866T>C (p.Ile1289Thr)
c.1640T>C (p.Ile547Thr)
n.2485T>C
n.2512T>C
c.875T>C (p.Ile292Thr)
c.9020T>C (p.Ile3007Thr)
c.4988T>C (p.Ile1663Thr)
n.2681T>C
c.833T>C (p.Ile278Thr)
c.2108T>C (p.Ile703Thr)
c.9008T>C (p.Ile3003Thr)
c.9005T>C (p.Ile3002Thr)
c.9017T>C (p.Ile3006Thr)
c.8996T>C (p.Ile2999Thr)
c.8651T>C (p.Ile2884Thr)
c.4997T>C (p.Ile1666Thr)
c.8891T>C (p.Ile2964Thr)
c.8882T>C (p.Ile2961Thr)
c.8897T>C (p.Ile2966Thr)
c.3194T>C (p.Ile1065Thr)
Xg.31444545A>TCA412655166DMDc.3866T>A (p.Ile1289Asn)
c.1640T>A (p.Ile547Asn)
n.2485T>A
n.2512T>A
c.875T>A (p.Ile292Asn)
c.9020T>A (p.Ile3007Asn)
c.4988T>A (p.Ile1663Asn)
n.2681T>A
c.833T>A (p.Ile278Asn)
c.2108T>A (p.Ile703Asn)
c.9008T>A (p.Ile3003Asn)
c.9005T>A (p.Ile3002Asn)
c.9017T>A (p.Ile3006Asn)
c.8996T>A (p.Ile2999Asn)
c.8651T>A (p.Ile2884Asn)
c.4997T>A (p.Ile1666Asn)
c.8891T>A (p.Ile2964Asn)
c.8882T>A (p.Ile2961Asn)
c.8897T>A (p.Ile2966Asn)
c.3194T>A (p.Ile1065Asn)
Xg.31444546T>ACA412655167DMDc.3865A>T (p.Ile1289Phe)
c.1639A>T (p.Ile547Phe)
n.2484A>T
n.2511A>T
c.874A>T (p.Ile292Phe)
c.9019A>T (p.Ile3007Phe)
c.4987A>T (p.Ile1663Phe)
n.2680A>T
c.832A>T (p.Ile278Phe)
c.2107A>T (p.Ile703Phe)
c.9007A>T (p.Ile3003Phe)
c.9004A>T (p.Ile3002Phe)
c.9016A>T (p.Ile3006Phe)
c.8995A>T (p.Ile2999Phe)
c.8650A>T (p.Ile2884Phe)
c.4996A>T (p.Ile1666Phe)
c.8890A>T (p.Ile2964Phe)
c.8881A>T (p.Ile2961Phe)
c.8896A>T (p.Ile2966Phe)
c.3193A>T (p.Ile1065Phe)
Xg.31444546T>CCA412655168DMDc.3865A>G (p.Ile1289Val)
c.1639A>G (p.Ile547Val)
n.2484A>G
n.2511A>G
c.874A>G (p.Ile292Val)
c.9019A>G (p.Ile3007Val)
c.4987A>G (p.Ile1663Val)
n.2680A>G
c.832A>G (p.Ile278Val)
c.2107A>G (p.Ile703Val)
c.9007A>G (p.Ile3003Val)
c.9004A>G (p.Ile3002Val)
c.9016A>G (p.Ile3006Val)
c.8995A>G (p.Ile2999Val)
c.8650A>G (p.Ile2884Val)
c.4996A>G (p.Ile1666Val)
c.8890A>G (p.Ile2964Val)
c.8881A>G (p.Ile2961Val)
c.8896A>G (p.Ile2966Val)
c.3193A>G (p.Ile1065Val)
Xg.31444546T>GCA412655169DMDc.3865A>C (p.Ile1289Leu)
c.1639A>C (p.Ile547Leu)
n.2484A>C
n.2511A>C
c.874A>C (p.Ile292Leu)
c.9019A>C (p.Ile3007Leu)
c.4987A>C (p.Ile1663Leu)
n.2680A>C
c.832A>C (p.Ile278Leu)
c.2107A>C (p.Ile703Leu)
c.9007A>C (p.Ile3003Leu)
c.9004A>C (p.Ile3002Leu)
c.9016A>C (p.Ile3006Leu)
c.8995A>C (p.Ile2999Leu)
c.8650A>C (p.Ile2884Leu)
c.4996A>C (p.Ile1666Leu)
c.8890A>C (p.Ile2964Leu)
c.8881A>C (p.Ile2961Leu)
c.8896A>C (p.Ile2966Leu)
c.3193A>C (p.Ile1065Leu)
Xg.31444547G>ACA515858239DMDc.3864C>T (p.Gly1288=)
c.1638C>T (p.Gly546=)
n.2483C>T
n.2510C>T
c.873C>T (p.Gly291=)
c.9018C>T (p.Gly3006=)
c.4986C>T (p.Gly1662=)
n.2679C>T
c.831C>T (p.Gly277=)
c.2106C>T (p.Gly702=)
c.9006C>T (p.Gly3002=)
c.9003C>T (p.Gly3001=)
c.9015C>T (p.Gly3005=)
c.8994C>T (p.Gly2998=)
c.8649C>T (p.Gly2883=)
c.4995C>T (p.Gly1665=)
c.8889C>T (p.Gly2963=)
c.8880C>T (p.Gly2960=)
c.8895C>T (p.Gly2965=)
c.3192C>T (p.Gly1064=)
Xg.31444547G>CCA515858240DMDc.3864C>G (p.Gly1288=)
c.1638C>G (p.Gly546=)
n.2483C>G
n.2510C>G
c.873C>G (p.Gly291=)
c.9018C>G (p.Gly3006=)
c.4986C>G (p.Gly1662=)
n.2679C>G
c.831C>G (p.Gly277=)
c.2106C>G (p.Gly702=)
c.9006C>G (p.Gly3002=)
c.9003C>G (p.Gly3001=)
c.9015C>G (p.Gly3005=)
c.8994C>G (p.Gly2998=)
c.8649C>G (p.Gly2883=)
c.4995C>G (p.Gly1665=)
c.8889C>G (p.Gly2963=)
c.8880C>G (p.Gly2960=)
c.8895C>G (p.Gly2965=)
c.3192C>G (p.Gly1064=)
Xg.31444547G>TCA515858241DMDc.3864C>A (p.Gly1288=)
c.1638C>A (p.Gly546=)
n.2483C>A
n.2510C>A
c.873C>A (p.Gly291=)
c.9018C>A (p.Gly3006=)
c.4986C>A (p.Gly1662=)
n.2679C>A
c.831C>A (p.Gly277=)
c.2106C>A (p.Gly702=)
c.9006C>A (p.Gly3002=)
c.9003C>A (p.Gly3001=)
c.9015C>A (p.Gly3005=)
c.8994C>A (p.Gly2998=)
c.8649C>A (p.Gly2883=)
c.4995C>A (p.Gly1665=)
c.8889C>A (p.Gly2963=)
c.8880C>A (p.Gly2960=)
c.8895C>A (p.Gly2965=)
c.3192C>A (p.Gly1064=)
Xg.31444548C>ACA412655170DMDc.3863G>T (p.Gly1288Val)
c.1637G>T (p.Gly546Val)
n.2482G>T
n.2509G>T
c.872G>T (p.Gly291Val)
c.9017G>T (p.Gly3006Val)
c.4985G>T (p.Gly1662Val)
n.2678G>T
c.830G>T (p.Gly277Val)
c.2105G>T (p.Gly702Val)
c.9005G>T (p.Gly3002Val)
c.9002G>T (p.Gly3001Val)
c.9014G>T (p.Gly3005Val)
c.8993G>T (p.Gly2998Val)
c.8648G>T (p.Gly2883Val)
c.4994G>T (p.Gly1665Val)
c.8888G>T (p.Gly2963Val)
c.8879G>T (p.Gly2960Val)
c.8894G>T (p.Gly2965Val)
c.3191G>T (p.Gly1064Val)
Xg.31444548C=CA2422434051DMDc.3863G= (p.Gly1288=)
c.1637G= (p.Gly546=)
n.2482G=
n.2509G=
c.872G= (p.Gly291=)
c.9017G= (p.Gly3006=)
c.4985G= (p.Gly1662=)
n.2678G=
c.830G= (p.Gly277=)
c.2105G= (p.Gly702=)
c.9005G= (p.Gly3002=)
c.9002G= (p.Gly3001=)
c.9014G= (p.Gly3005=)
c.8993G= (p.Gly2998=)
c.8648G= (p.Gly2883=)
c.4994G= (p.Gly1665=)
c.8888G= (p.Gly2963=)
c.8879G= (p.Gly2960=)
c.8894G= (p.Gly2965=)
c.3191G= (p.Gly1064=)
Xg.31444548C>GCA412655171DMDc.3863G>C (p.Gly1288Ala)
c.1637G>C (p.Gly546Ala)
n.2482G>C
n.2509G>C
c.872G>C (p.Gly291Ala)
c.9017G>C (p.Gly3006Ala)
c.4985G>C (p.Gly1662Ala)
n.2678G>C
c.830G>C (p.Gly277Ala)
c.2105G>C (p.Gly702Ala)
c.9005G>C (p.Gly3002Ala)
c.9002G>C (p.Gly3001Ala)
c.9014G>C (p.Gly3005Ala)
c.8993G>C (p.Gly2998Ala)
c.8648G>C (p.Gly2883Ala)
c.4994G>C (p.Gly1665Ala)
c.8888G>C (p.Gly2963Ala)
c.8879G>C (p.Gly2960Ala)
c.8894G>C (p.Gly2965Ala)
c.3191G>C (p.Gly1064Ala)
Xg.31444548C>TCA412655172DMDc.3863G>A (p.Gly1288Asp)
c.1637G>A (p.Gly546Asp)
n.2482G>A
n.2509G>A
c.872G>A (p.Gly291Asp)
c.9017G>A (p.Gly3006Asp)
c.4985G>A (p.Gly1662Asp)
n.2678G>A
c.830G>A (p.Gly277Asp)
c.2105G>A (p.Gly702Asp)
c.9005G>A (p.Gly3002Asp)
c.9002G>A (p.Gly3001Asp)
c.9014G>A (p.Gly3005Asp)
c.8993G>A (p.Gly2998Asp)
c.8648G>A (p.Gly2883Asp)
c.4994G>A (p.Gly1665Asp)
c.8888G>A (p.Gly2963Asp)
c.8879G>A (p.Gly2960Asp)
c.8894G>A (p.Gly2965Asp)
c.3191G>A (p.Gly1064Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444549C>ACA412655174DMDc.3862G>T (p.Gly1288Cys)
c.1636G>T (p.Gly546Cys)
n.2481G>T
n.2508G>T
c.871G>T (p.Gly291Cys)
c.9016G>T (p.Gly3006Cys)
c.4984G>T (p.Gly1662Cys)
n.2677G>T
c.829G>T (p.Gly277Cys)
c.2104G>T (p.Gly702Cys)
c.9004G>T (p.Gly3002Cys)
c.9001G>T (p.Gly3001Cys)
c.9013G>T (p.Gly3005Cys)
c.8992G>T (p.Gly2998Cys)
c.8647G>T (p.Gly2883Cys)
c.4993G>T (p.Gly1665Cys)
c.8887G>T (p.Gly2963Cys)
c.8878G>T (p.Gly2960Cys)
c.8893G>T (p.Gly2965Cys)
c.3190G>T (p.Gly1064Cys)
Xg.31444549C>GCA412655175DMDc.3862G>C (p.Gly1288Arg)
c.1636G>C (p.Gly546Arg)
n.2481G>C
n.2508G>C
c.871G>C (p.Gly291Arg)
c.9016G>C (p.Gly3006Arg)
c.4984G>C (p.Gly1662Arg)
n.2677G>C
c.829G>C (p.Gly277Arg)
c.2104G>C (p.Gly702Arg)
c.9004G>C (p.Gly3002Arg)
c.9001G>C (p.Gly3001Arg)
c.9013G>C (p.Gly3005Arg)
c.8992G>C (p.Gly2998Arg)
c.8647G>C (p.Gly2883Arg)
c.4993G>C (p.Gly1665Arg)
c.8887G>C (p.Gly2963Arg)
c.8878G>C (p.Gly2960Arg)
c.8893G>C (p.Gly2965Arg)
c.3190G>C (p.Gly1064Arg)
Xg.31444549C>TCA412655173DMDc.3862G>A (p.Gly1288Ser)
c.1636G>A (p.Gly546Ser)
n.2481G>A
n.2508G>A
c.871G>A (p.Gly291Ser)
c.9016G>A (p.Gly3006Ser)
c.4984G>A (p.Gly1662Ser)
n.2677G>A
c.829G>A (p.Gly277Ser)
c.2104G>A (p.Gly702Ser)
c.9004G>A (p.Gly3002Ser)
c.9001G>A (p.Gly3001Ser)
c.9013G>A (p.Gly3005Ser)
c.8992G>A (p.Gly2998Ser)
c.8647G>A (p.Gly2883Ser)
c.4993G>A (p.Gly1665Ser)
c.8887G>A (p.Gly2963Ser)
c.8878G>A (p.Gly2960Ser)
c.8893G>A (p.Gly2965Ser)
c.3190G>A (p.Gly1064Ser)
Xg.31444550C>ACA412655176DMDc.3861G>T (p.Leu1287Phe)
c.1635G>T (p.Leu545Phe)
n.2480G>T
n.2507G>T
c.870G>T (p.Leu290Phe)
c.9015G>T (p.Leu3005Phe)
c.4983G>T (p.Leu1661Phe)
n.2676G>T
c.828G>T (p.Leu276Phe)
c.2103G>T (p.Leu701Phe)
c.9003G>T (p.Leu3001Phe)
c.9000G>T (p.Leu3000Phe)
c.9012G>T (p.Leu3004Phe)
c.8991G>T (p.Leu2997Phe)
c.8646G>T (p.Leu2882Phe)
c.4992G>T (p.Leu1664Phe)
c.8886G>T (p.Leu2962Phe)
c.8877G>T (p.Leu2959Phe)
c.8892G>T (p.Leu2964Phe)
c.3189G>T (p.Leu1063Phe)
Xg.31444550C=CA2422434052DMDc.3861G= (p.Leu1287=)
c.1635G= (p.Leu545=)
n.2480G=
n.2507G=
c.870G= (p.Leu290=)
c.9015G= (p.Leu3005=)
c.4983G= (p.Leu1661=)
n.2676G=
c.828G= (p.Leu276=)
c.2103G= (p.Leu701=)
c.9003G= (p.Leu3001=)
c.9000G= (p.Leu3000=)
c.9012G= (p.Leu3004=)
c.8991G= (p.Leu2997=)
c.8646G= (p.Leu2882=)
c.4992G= (p.Leu1664=)
c.8886G= (p.Leu2962=)
c.8877G= (p.Leu2959=)
c.8892G= (p.Leu2964=)
c.3189G= (p.Leu1063=)
Xg.31444550C>GCA412655177DMDc.3861G>C (p.Leu1287Phe)
c.1635G>C (p.Leu545Phe)
n.2480G>C
n.2507G>C
c.870G>C (p.Leu290Phe)
c.9015G>C (p.Leu3005Phe)
c.4983G>C (p.Leu1661Phe)
n.2676G>C
c.828G>C (p.Leu276Phe)
c.2103G>C (p.Leu701Phe)
c.9003G>C (p.Leu3001Phe)
c.9000G>C (p.Leu3000Phe)
c.9012G>C (p.Leu3004Phe)
c.8991G>C (p.Leu2997Phe)
c.8646G>C (p.Leu2882Phe)
c.4992G>C (p.Leu1664Phe)
c.8886G>C (p.Leu2962Phe)
c.8877G>C (p.Leu2959Phe)
c.8892G>C (p.Leu2964Phe)
c.3189G>C (p.Leu1063Phe)
Xg.31444550C>TCA10377936DMDc.3861G>A (p.Leu1287=)
c.1635G>A (p.Leu545=)
n.2480G>A
n.2507G>A
c.870G>A (p.Leu290=)
c.9015G>A (p.Leu3005=)
c.4983G>A (p.Leu1661=)
n.2676G>A
c.828G>A (p.Leu276=)
c.2103G>A (p.Leu701=)
c.9003G>A (p.Leu3001=)
c.9000G>A (p.Leu3000=)
c.9012G>A (p.Leu3004=)
c.8991G>A (p.Leu2997=)
c.8646G>A (p.Leu2882=)
c.4992G>A (p.Leu1664=)
c.8886G>A (p.Leu2962=)
c.8877G>A (p.Leu2959=)
c.8892G>A (p.Leu2964=)
c.3189G>A (p.Leu1063=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31444551A=CA2422434053DMDc.3860T= (p.Leu1287=)
c.1634T= (p.Leu545=)
n.2479T=
n.2506T=
c.869T= (p.Leu290=)
c.9014T= (p.Leu3005=)
c.4982T= (p.Leu1661=)
n.2675T=
c.827T= (p.Leu276=)
c.2102T= (p.Leu701=)
c.9002T= (p.Leu3001=)
c.8999T= (p.Leu3000=)
c.9011T= (p.Leu3004=)
c.8990T= (p.Leu2997=)
c.8645T= (p.Leu2882=)
c.4991T= (p.Leu1664=)
c.8885T= (p.Leu2962=)
c.8876T= (p.Leu2959=)
c.8891T= (p.Leu2964=)
c.3188T= (p.Leu1063=)
Xg.31444551A>CCA412655178DMDc.3860T>G (p.Leu1287Trp)
c.1634T>G (p.Leu545Trp)
n.2479T>G
n.2506T>G
c.869T>G (p.Leu290Trp)
c.9014T>G (p.Leu3005Trp)
c.4982T>G (p.Leu1661Trp)
n.2675T>G
c.827T>G (p.Leu276Trp)
c.2102T>G (p.Leu701Trp)
c.9002T>G (p.Leu3001Trp)
c.8999T>G (p.Leu3000Trp)
c.9011T>G (p.Leu3004Trp)
c.8990T>G (p.Leu2997Trp)
c.8645T>G (p.Leu2882Trp)
c.4991T>G (p.Leu1664Trp)
c.8885T>G (p.Leu2962Trp)
c.8876T>G (p.Leu2959Trp)
c.8891T>G (p.Leu2964Trp)
c.3188T>G (p.Leu1063Trp)
Xg.31444551A>GCA412655179DMDc.3860T>C (p.Leu1287Ser)
c.1634T>C (p.Leu545Ser)
n.2479T>C
n.2506T>C
c.869T>C (p.Leu290Ser)
c.9014T>C (p.Leu3005Ser)
c.4982T>C (p.Leu1661Ser)
n.2675T>C
c.827T>C (p.Leu276Ser)
c.2102T>C (p.Leu701Ser)
c.9002T>C (p.Leu3001Ser)
c.8999T>C (p.Leu3000Ser)
c.9011T>C (p.Leu3004Ser)
c.8990T>C (p.Leu2997Ser)
c.8645T>C (p.Leu2882Ser)
c.4991T>C (p.Leu1664Ser)
c.8885T>C (p.Leu2962Ser)
c.8876T>C (p.Leu2959Ser)
c.8891T>C (p.Leu2964Ser)
c.3188T>C (p.Leu1063Ser)
Xg.31444551A>TCA412655180DMDc.3860T>A (p.Leu1287Ter)
c.1634T>A (p.Leu545Ter)
n.2479T>A
n.2506T>A
c.869T>A (p.Leu290Ter)
c.9014T>A (p.Leu3005Ter)
c.4982T>A (p.Leu1661Ter)
n.2675T>A
c.827T>A (p.Leu276Ter)
c.2102T>A (p.Leu701Ter)
c.9002T>A (p.Leu3001Ter)
c.8999T>A (p.Leu3000Ter)
c.9011T>A (p.Leu3004Ter)
c.8990T>A (p.Leu2997Ter)
c.8645T>A (p.Leu2882Ter)
c.4991T>A (p.Leu1664Ter)
c.8885T>A (p.Leu2962Ter)
c.8876T>A (p.Leu2959Ter)
c.8891T>A (p.Leu2964Ter)
c.3188T>A (p.Leu1063Ter)
 ClinVar dbSNP
Xg.31444552A>CCA412655182DMDc.3859T>G (p.Leu1287Val)
c.1633T>G (p.Leu545Val)
n.2478T>G
n.2505T>G
c.868T>G (p.Leu290Val)
c.9013T>G (p.Leu3005Val)
c.4981T>G (p.Leu1661Val)
n.2674T>G
c.826T>G (p.Leu276Val)
c.2101T>G (p.Leu701Val)
c.9001T>G (p.Leu3001Val)
c.8998T>G (p.Leu3000Val)
c.9010T>G (p.Leu3004Val)
c.8989T>G (p.Leu2997Val)
c.8644T>G (p.Leu2882Val)
c.4990T>G (p.Leu1664Val)
c.8884T>G (p.Leu2962Val)
c.8875T>G (p.Leu2959Val)
c.8890T>G (p.Leu2964Val)
c.3187T>G (p.Leu1063Val)
Xg.31444552A>GCA515858243DMDc.3859T>C (p.Leu1287=)
c.1633T>C (p.Leu545=)
n.2478T>C
n.2505T>C
c.868T>C (p.Leu290=)
c.9013T>C (p.Leu3005=)
c.4981T>C (p.Leu1661=)
n.2674T>C
c.826T>C (p.Leu276=)
c.2101T>C (p.Leu701=)
c.9001T>C (p.Leu3001=)
c.8998T>C (p.Leu3000=)
c.9010T>C (p.Leu3004=)
c.8989T>C (p.Leu2997=)
c.8644T>C (p.Leu2882=)
c.4990T>C (p.Leu1664=)
c.8884T>C (p.Leu2962=)
c.8875T>C (p.Leu2959=)
c.8890T>C (p.Leu2964=)
c.3187T>C (p.Leu1063=)
Xg.31444552A>TCA412655181DMDc.3859T>A (p.Leu1287Met)
c.1633T>A (p.Leu545Met)
n.2478T>A
n.2505T>A
c.868T>A (p.Leu290Met)
c.9013T>A (p.Leu3005Met)
c.4981T>A (p.Leu1661Met)
n.2674T>A
c.826T>A (p.Leu276Met)
c.2101T>A (p.Leu701Met)
c.9001T>A (p.Leu3001Met)
c.8998T>A (p.Leu3000Met)
c.9010T>A (p.Leu3004Met)
c.8989T>A (p.Leu2997Met)
c.8644T>A (p.Leu2882Met)
c.4990T>A (p.Leu1664Met)
c.8884T>A (p.Leu2962Met)
c.8875T>A (p.Leu2959Met)
c.8890T>A (p.Leu2964Met)
c.3187T>A (p.Leu1063Met)
Xg.31444553A>CCA515858244DMDc.3858T>G (p.Thr1286=)
c.1632T>G (p.Thr544=)
n.2477T>G
n.2504T>G
c.867T>G (p.Thr289=)
c.9012T>G (p.Thr3004=)
c.4980T>G (p.Thr1660=)
n.2673T>G
c.825T>G (p.Thr275=)
c.2100T>G (p.Thr700=)
c.9000T>G (p.Thr3000=)
c.8997T>G (p.Thr2999=)
c.9009T>G (p.Thr3003=)
c.8988T>G (p.Thr2996=)
c.8643T>G (p.Thr2881=)
c.4989T>G (p.Thr1663=)
c.8883T>G (p.Thr2961=)
c.8874T>G (p.Thr2958=)
c.8889T>G (p.Thr2963=)
c.3186T>G (p.Thr1062=)
Xg.31444553A>GCA515858246DMDc.3858T>C (p.Thr1286=)
c.1632T>C (p.Thr544=)
n.2477T>C
n.2504T>C
c.867T>C (p.Thr289=)
c.9012T>C (p.Thr3004=)
c.4980T>C (p.Thr1660=)
n.2673T>C
c.825T>C (p.Thr275=)
c.2100T>C (p.Thr700=)
c.9000T>C (p.Thr3000=)
c.8997T>C (p.Thr2999=)
c.9009T>C (p.Thr3003=)
c.8988T>C (p.Thr2996=)
c.8643T>C (p.Thr2881=)
c.4989T>C (p.Thr1663=)
c.8883T>C (p.Thr2961=)
c.8874T>C (p.Thr2958=)
c.8889T>C (p.Thr2963=)
c.3186T>C (p.Thr1062=)
Xg.31444553A>TCA515858245DMDc.3858T>A (p.Thr1286=)
c.1632T>A (p.Thr544=)
n.2477T>A
n.2504T>A
c.867T>A (p.Thr289=)
c.9012T>A (p.Thr3004=)
c.4980T>A (p.Thr1660=)
n.2673T>A
c.825T>A (p.Thr275=)
c.2100T>A (p.Thr700=)
c.9000T>A (p.Thr3000=)
c.8997T>A (p.Thr2999=)
c.9009T>A (p.Thr3003=)
c.8988T>A (p.Thr2996=)
c.8643T>A (p.Thr2881=)
c.4989T>A (p.Thr1663=)
c.8883T>A (p.Thr2961=)
c.8874T>A (p.Thr2958=)
c.8889T>A (p.Thr2963=)
c.3186T>A (p.Thr1062=)
Xg.31444554G>ACA412655183DMDc.3857C>T (p.Thr1286Ile)
c.1631C>T (p.Thr544Ile)
n.2476C>T
n.2503C>T
c.866C>T (p.Thr289Ile)
c.9011C>T (p.Thr3004Ile)
c.4979C>T (p.Thr1660Ile)
n.2672C>T
c.824C>T (p.Thr275Ile)
c.2099C>T (p.Thr700Ile)
c.8999C>T (p.Thr3000Ile)
c.8996C>T (p.Thr2999Ile)
c.9008C>T (p.Thr3003Ile)
c.8987C>T (p.Thr2996Ile)
c.8642C>T (p.Thr2881Ile)
c.4988C>T (p.Thr1663Ile)
c.8882C>T (p.Thr2961Ile)
c.8873C>T (p.Thr2958Ile)
c.8888C>T (p.Thr2963Ile)
c.3185C>T (p.Thr1062Ile)
Xg.31444554G>CCA412655184DMDc.3857C>G (p.Thr1286Ser)
c.1631C>G (p.Thr544Ser)
n.2476C>G
n.2503C>G
c.866C>G (p.Thr289Ser)
c.9011C>G (p.Thr3004Ser)
c.4979C>G (p.Thr1660Ser)
n.2672C>G
c.824C>G (p.Thr275Ser)
c.2099C>G (p.Thr700Ser)
c.8999C>G (p.Thr3000Ser)
c.8996C>G (p.Thr2999Ser)
c.9008C>G (p.Thr3003Ser)
c.8987C>G (p.Thr2996Ser)
c.8642C>G (p.Thr2881Ser)
c.4988C>G (p.Thr1663Ser)
c.8882C>G (p.Thr2961Ser)
c.8873C>G (p.Thr2958Ser)
c.8888C>G (p.Thr2963Ser)
c.3185C>G (p.Thr1062Ser)
Xg.31444554G>TCA412655185DMDc.3857C>A (p.Thr1286Asn)
c.1631C>A (p.Thr544Asn)
n.2476C>A
n.2503C>A
c.866C>A (p.Thr289Asn)
c.9011C>A (p.Thr3004Asn)
c.4979C>A (p.Thr1660Asn)
n.2672C>A
c.824C>A (p.Thr275Asn)
c.2099C>A (p.Thr700Asn)
c.8999C>A (p.Thr3000Asn)
c.8996C>A (p.Thr2999Asn)
c.9008C>A (p.Thr3003Asn)
c.8987C>A (p.Thr2996Asn)
c.8642C>A (p.Thr2881Asn)
c.4988C>A (p.Thr1663Asn)
c.8882C>A (p.Thr2961Asn)
c.8873C>A (p.Thr2958Asn)
c.8888C>A (p.Thr2963Asn)
c.3185C>A (p.Thr1062Asn)
Xg.31444555T>ACA10377937DMDc.3856A>T (p.Thr1286Ser)
c.1630A>T (p.Thr544Ser)
n.2475A>T
n.2502A>T
c.865A>T (p.Thr289Ser)
c.9010A>T (p.Thr3004Ser)
c.4978A>T (p.Thr1660Ser)
n.2671A>T
c.823A>T (p.Thr275Ser)
c.2098A>T (p.Thr700Ser)
c.8998A>T (p.Thr3000Ser)
c.8995A>T (p.Thr2999Ser)
c.9007A>T (p.Thr3003Ser)
c.8986A>T (p.Thr2996Ser)
c.8641A>T (p.Thr2881Ser)
c.4987A>T (p.Thr1663Ser)
c.8881A>T (p.Thr2961Ser)
c.8872A>T (p.Thr2958Ser)
c.8887A>T (p.Thr2963Ser)
c.3184A>T (p.Thr1062Ser)
 dbSNP ExAC
Xg.31444555T>CCA412655186DMDc.3856A>G (p.Thr1286Ala)
c.1630A>G (p.Thr544Ala)
n.2475A>G
n.2502A>G
c.865A>G (p.Thr289Ala)
c.9010A>G (p.Thr3004Ala)
c.4978A>G (p.Thr1660Ala)
n.2671A>G
c.823A>G (p.Thr275Ala)
c.2098A>G (p.Thr700Ala)
c.8998A>G (p.Thr3000Ala)
c.8995A>G (p.Thr2999Ala)
c.9007A>G (p.Thr3003Ala)
c.8986A>G (p.Thr2996Ala)
c.8641A>G (p.Thr2881Ala)
c.4987A>G (p.Thr1663Ala)
c.8881A>G (p.Thr2961Ala)
c.8872A>G (p.Thr2958Ala)
c.8887A>G (p.Thr2963Ala)
c.3184A>G (p.Thr1062Ala)
 gnomAD v4
Xg.31444555T>GCA412655187DMDc.3856A>C (p.Thr1286Pro)
c.1630A>C (p.Thr544Pro)
n.2475A>C
n.2502A>C
c.865A>C (p.Thr289Pro)
c.9010A>C (p.Thr3004Pro)
c.4978A>C (p.Thr1660Pro)
n.2671A>C
c.823A>C (p.Thr275Pro)
c.2098A>C (p.Thr700Pro)
c.8998A>C (p.Thr3000Pro)
c.8995A>C (p.Thr2999Pro)
c.9007A>C (p.Thr3003Pro)
c.8986A>C (p.Thr2996Pro)
c.8641A>C (p.Thr2881Pro)
c.4987A>C (p.Thr1663Pro)
c.8881A>C (p.Thr2961Pro)
c.8872A>C (p.Thr2958Pro)
c.8887A>C (p.Thr2963Pro)
c.3184A>C (p.Thr1062Pro)
Xg.31444555T=CA2422434054DMDc.3856A= (p.Thr1286=)
c.1630A= (p.Thr544=)
n.2475A=
n.2502A=
c.865A= (p.Thr289=)
c.9010A= (p.Thr3004=)
c.4978A= (p.Thr1660=)
n.2671A=
c.823A= (p.Thr275=)
c.2098A= (p.Thr700=)
c.8998A= (p.Thr3000=)
c.8995A= (p.Thr2999=)
c.9007A= (p.Thr3003=)
c.8986A= (p.Thr2996=)
c.8641A= (p.Thr2881=)
c.4987A= (p.Thr1663=)
c.8881A= (p.Thr2961=)
c.8872A= (p.Thr2958=)
c.8887A= (p.Thr2963=)
c.3184A= (p.Thr1062=)
Xg.31444556G>ACA515858248DMDc.3855C>T (p.Thr1285=)
c.1629C>T (p.Thr543=)
n.2474C>T
n.2501C>T
c.864C>T (p.Thr288=)
c.9009C>T (p.Thr3003=)
c.4977C>T (p.Thr1659=)
n.2670C>T
c.822C>T (p.Thr274=)
c.2097C>T (p.Thr699=)
c.8997C>T (p.Thr2999=)
c.8994C>T (p.Thr2998=)
c.9006C>T (p.Thr3002=)
c.8985C>T (p.Thr2995=)
c.8640C>T (p.Thr2880=)
c.4986C>T (p.Thr1662=)
c.8880C>T (p.Thr2960=)
c.8871C>T (p.Thr2957=)
c.8886C>T (p.Thr2962=)
c.3183C>T (p.Thr1061=)
 gnomAD v4
Xg.31444556G>CCA515858249DMDc.3855C>G (p.Thr1285=)
c.1629C>G (p.Thr543=)
n.2474C>G
n.2501C>G
c.864C>G (p.Thr288=)
c.9009C>G (p.Thr3003=)
c.4977C>G (p.Thr1659=)
n.2670C>G
c.822C>G (p.Thr274=)
c.2097C>G (p.Thr699=)
c.8997C>G (p.Thr2999=)
c.8994C>G (p.Thr2998=)
c.9006C>G (p.Thr3002=)
c.8985C>G (p.Thr2995=)
c.8640C>G (p.Thr2880=)
c.4986C>G (p.Thr1662=)
c.8880C>G (p.Thr2960=)
c.8871C>G (p.Thr2957=)
c.8886C>G (p.Thr2962=)
c.3183C>G (p.Thr1061=)
Xg.31444556G>TCA515858250DMDc.3855C>A (p.Thr1285=)
c.1629C>A (p.Thr543=)
n.2474C>A
n.2501C>A
c.864C>A (p.Thr288=)
c.9009C>A (p.Thr3003=)
c.4977C>A (p.Thr1659=)
n.2670C>A
c.822C>A (p.Thr274=)
c.2097C>A (p.Thr699=)
c.8997C>A (p.Thr2999=)
c.8994C>A (p.Thr2998=)
c.9006C>A (p.Thr3002=)
c.8985C>A (p.Thr2995=)
c.8640C>A (p.Thr2880=)
c.4986C>A (p.Thr1662=)
c.8880C>A (p.Thr2960=)
c.8871C>A (p.Thr2957=)
c.8886C>A (p.Thr2962=)
c.3183C>A (p.Thr1061=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444557delCA2573055260DMDc.3855del (p.Thr1286LeufsTer17)
c.1629del (p.Thr544LeufsTer17)
n.2474del
n.2501del
c.864del (p.Thr289LeufsTer17)
c.9009del (p.Thr3004LeufsTer17)
c.4977del (p.Thr1660LeufsTer17)
n.2670del
c.822del (p.Thr275LeufsTer17)
c.2097del (p.Thr700LeufsTer17)
c.8997del (p.Thr3000LeufsTer17)
c.8994del (p.Thr2999LeufsTer17)
c.9006del (p.Thr3003LeufsTer17)
c.8985del (p.Thr2996LeufsTer17)
c.8640del (p.Thr2881LeufsTer17)
c.4986del (p.Thr1663LeufsTer17)
c.8880del (p.Thr2961LeufsTer17)
c.8871del (p.Thr2958LeufsTer17)
c.8886del (p.Thr2963LeufsTer17)
c.3183del (p.Thr1062LeufsTer17)
 dbSNP
Xg.31444557G>ACA10377938DMDc.3854C>T (p.Thr1285Ile)
c.1628C>T (p.Thr543Ile)
n.2473C>T
n.2500C>T
c.863C>T (p.Thr288Ile)
c.9008C>T (p.Thr3003Ile)
c.4976C>T (p.Thr1659Ile)
n.2669C>T
c.821C>T (p.Thr274Ile)
c.2096C>T (p.Thr699Ile)
c.8996C>T (p.Thr2999Ile)
c.8993C>T (p.Thr2998Ile)
c.9005C>T (p.Thr3002Ile)
c.8984C>T (p.Thr2995Ile)
c.8639C>T (p.Thr2880Ile)
c.4985C>T (p.Thr1662Ile)
c.8879C>T (p.Thr2960Ile)
c.8870C>T (p.Thr2957Ile)
c.8885C>T (p.Thr2962Ile)
c.3182C>T (p.Thr1061Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31444557G>CCA412655189DMDc.3854C>G (p.Thr1285Ser)
c.1628C>G (p.Thr543Ser)
n.2473C>G
n.2500C>G
c.863C>G (p.Thr288Ser)
c.9008C>G (p.Thr3003Ser)
c.4976C>G (p.Thr1659Ser)
n.2669C>G
c.821C>G (p.Thr274Ser)
c.2096C>G (p.Thr699Ser)
c.8996C>G (p.Thr2999Ser)
c.8993C>G (p.Thr2998Ser)
c.9005C>G (p.Thr3002Ser)
c.8984C>G (p.Thr2995Ser)
c.8639C>G (p.Thr2880Ser)
c.4985C>G (p.Thr1662Ser)
c.8879C>G (p.Thr2960Ser)
c.8870C>G (p.Thr2957Ser)
c.8885C>G (p.Thr2962Ser)
c.3182C>G (p.Thr1061Ser)
Xg.31444557G=CA2422434055DMDc.3854C= (p.Thr1285=)
c.1628C= (p.Thr543=)
n.2473C=
n.2500C=
c.863C= (p.Thr288=)
c.9008C= (p.Thr3003=)
c.4976C= (p.Thr1659=)
n.2669C=
c.821C= (p.Thr274=)
c.2096C= (p.Thr699=)
c.8996C= (p.Thr2999=)
c.8993C= (p.Thr2998=)
c.9005C= (p.Thr3002=)
c.8984C= (p.Thr2995=)
c.8639C= (p.Thr2880=)
c.4985C= (p.Thr1662=)
c.8879C= (p.Thr2960=)
c.8870C= (p.Thr2957=)
c.8885C= (p.Thr2962=)
c.3182C= (p.Thr1061=)
Xg.31444557G>TCA412655188DMDc.3854C>A (p.Thr1285Asn)
c.1628C>A (p.Thr543Asn)
n.2473C>A
n.2500C>A
c.863C>A (p.Thr288Asn)
c.9008C>A (p.Thr3003Asn)
c.4976C>A (p.Thr1659Asn)
n.2669C>A
c.821C>A (p.Thr274Asn)
c.2096C>A (p.Thr699Asn)
c.8996C>A (p.Thr2999Asn)
c.8993C>A (p.Thr2998Asn)
c.9005C>A (p.Thr3002Asn)
c.8984C>A (p.Thr2995Asn)
c.8639C>A (p.Thr2880Asn)
c.4985C>A (p.Thr1662Asn)
c.8879C>A (p.Thr2960Asn)
c.8870C>A (p.Thr2957Asn)
c.8885C>A (p.Thr2962Asn)
c.3182C>A (p.Thr1061Asn)
 ClinVar dbSNP
Xg.31444558T>ACA412655190DMDc.3853A>T (p.Thr1285Ser)
c.1627A>T (p.Thr543Ser)
n.2472A>T
n.2499A>T
c.862A>T (p.Thr288Ser)
c.9007A>T (p.Thr3003Ser)
c.4975A>T (p.Thr1659Ser)
n.2668A>T
c.820A>T (p.Thr274Ser)
c.2095A>T (p.Thr699Ser)
c.8995A>T (p.Thr2999Ser)
c.8992A>T (p.Thr2998Ser)
c.9004A>T (p.Thr3002Ser)
c.8983A>T (p.Thr2995Ser)
c.8638A>T (p.Thr2880Ser)
c.4984A>T (p.Thr1662Ser)
c.8878A>T (p.Thr2960Ser)
c.8869A>T (p.Thr2957Ser)
c.8884A>T (p.Thr2962Ser)
c.3181A>T (p.Thr1061Ser)
Xg.31444558T>CCA412655191DMDc.3853A>G (p.Thr1285Ala)
c.1627A>G (p.Thr543Ala)
n.2472A>G
n.2499A>G
c.862A>G (p.Thr288Ala)
c.9007A>G (p.Thr3003Ala)
c.4975A>G (p.Thr1659Ala)
n.2668A>G
c.820A>G (p.Thr274Ala)
c.2095A>G (p.Thr699Ala)
c.8995A>G (p.Thr2999Ala)
c.8992A>G (p.Thr2998Ala)
c.9004A>G (p.Thr3002Ala)
c.8983A>G (p.Thr2995Ala)
c.8638A>G (p.Thr2880Ala)
c.4984A>G (p.Thr1662Ala)
c.8878A>G (p.Thr2960Ala)
c.8869A>G (p.Thr2957Ala)
c.8884A>G (p.Thr2962Ala)
c.3181A>G (p.Thr1061Ala)
Xg.31444558T>GCA412655192DMDc.3853A>C (p.Thr1285Pro)
c.1627A>C (p.Thr543Pro)
n.2472A>C
n.2499A>C
c.862A>C (p.Thr288Pro)
c.9007A>C (p.Thr3003Pro)
c.4975A>C (p.Thr1659Pro)
n.2668A>C
c.820A>C (p.Thr274Pro)
c.2095A>C (p.Thr699Pro)
c.8995A>C (p.Thr2999Pro)
c.8992A>C (p.Thr2998Pro)
c.9004A>C (p.Thr3002Pro)
c.8983A>C (p.Thr2995Pro)
c.8638A>C (p.Thr2880Pro)
c.4984A>C (p.Thr1662Pro)
c.8878A>C (p.Thr2960Pro)
c.8869A>C (p.Thr2957Pro)
c.8884A>C (p.Thr2962Pro)
c.3181A>C (p.Thr1061Pro)
Xg.31444559A>CCA515858251DMDc.3852T>G (p.Leu1284=)
c.1626T>G (p.Leu542=)
n.2471T>G
n.2498T>G
c.861T>G (p.Leu287=)
c.9006T>G (p.Leu3002=)
c.4974T>G (p.Leu1658=)
n.2667T>G
c.819T>G (p.Leu273=)
c.2094T>G (p.Leu698=)
c.8994T>G (p.Leu2998=)
c.8991T>G (p.Leu2997=)
c.9003T>G (p.Leu3001=)
c.8982T>G (p.Leu2994=)
c.8637T>G (p.Leu2879=)
c.4983T>G (p.Leu1661=)
c.8877T>G (p.Leu2959=)
c.8868T>G (p.Leu2956=)
c.8883T>G (p.Leu2961=)
c.3180T>G (p.Leu1060=)
Xg.31444559A>GCA515858252DMDc.3852T>C (p.Leu1284=)
c.1626T>C (p.Leu542=)
n.2471T>C
n.2498T>C
c.861T>C (p.Leu287=)
c.9006T>C (p.Leu3002=)
c.4974T>C (p.Leu1658=)
n.2667T>C
c.819T>C (p.Leu273=)
c.2094T>C (p.Leu698=)
c.8994T>C (p.Leu2998=)
c.8991T>C (p.Leu2997=)
c.9003T>C (p.Leu3001=)
c.8982T>C (p.Leu2994=)
c.8637T>C (p.Leu2879=)
c.4983T>C (p.Leu1661=)
c.8877T>C (p.Leu2959=)
c.8868T>C (p.Leu2956=)
c.8883T>C (p.Leu2961=)
c.3180T>C (p.Leu1060=)
Xg.31444559A>TCA515858253DMDc.3852T>A (p.Leu1284=)
c.1626T>A (p.Leu542=)
n.2471T>A
n.2498T>A
c.861T>A (p.Leu287=)
c.9006T>A (p.Leu3002=)
c.4974T>A (p.Leu1658=)
n.2667T>A
c.819T>A (p.Leu273=)
c.2094T>A (p.Leu698=)
c.8994T>A (p.Leu2998=)
c.8991T>A (p.Leu2997=)
c.9003T>A (p.Leu3001=)
c.8982T>A (p.Leu2994=)
c.8637T>A (p.Leu2879=)
c.4983T>A (p.Leu1661=)
c.8877T>A (p.Leu2959=)
c.8868T>A (p.Leu2956=)
c.8883T>A (p.Leu2961=)
c.3180T>A (p.Leu1060=)
Xg.31444560A>CCA412655193DMDc.3851T>G (p.Leu1284Arg)
c.1625T>G (p.Leu542Arg)
n.2470T>G
n.2497T>G
c.860T>G (p.Leu287Arg)
c.9005T>G (p.Leu3002Arg)
c.4973T>G (p.Leu1658Arg)
n.2666T>G
c.818T>G (p.Leu273Arg)
c.2093T>G (p.Leu698Arg)
c.8993T>G (p.Leu2998Arg)
c.8990T>G (p.Leu2997Arg)
c.9002T>G (p.Leu3001Arg)
c.8981T>G (p.Leu2994Arg)
c.8636T>G (p.Leu2879Arg)
c.4982T>G (p.Leu1661Arg)
c.8876T>G (p.Leu2959Arg)
c.8867T>G (p.Leu2956Arg)
c.8882T>G (p.Leu2961Arg)
c.3179T>G (p.Leu1060Arg)
Xg.31444560A>GCA412655194DMDc.3851T>C (p.Leu1284Pro)
c.1625T>C (p.Leu542Pro)
n.2470T>C
n.2497T>C
c.860T>C (p.Leu287Pro)
c.9005T>C (p.Leu3002Pro)
c.4973T>C (p.Leu1658Pro)
n.2666T>C
c.818T>C (p.Leu273Pro)
c.2093T>C (p.Leu698Pro)
c.8993T>C (p.Leu2998Pro)
c.8990T>C (p.Leu2997Pro)
c.9002T>C (p.Leu3001Pro)
c.8981T>C (p.Leu2994Pro)
c.8636T>C (p.Leu2879Pro)
c.4982T>C (p.Leu1661Pro)
c.8876T>C (p.Leu2959Pro)
c.8867T>C (p.Leu2956Pro)
c.8882T>C (p.Leu2961Pro)
c.3179T>C (p.Leu1060Pro)
Xg.31444560A>TCA412655195DMDc.3851T>A (p.Leu1284His)
c.1625T>A (p.Leu542His)
n.2470T>A
n.2497T>A
c.860T>A (p.Leu287His)
c.9005T>A (p.Leu3002His)
c.4973T>A (p.Leu1658His)
n.2666T>A
c.818T>A (p.Leu273His)
c.2093T>A (p.Leu698His)
c.8993T>A (p.Leu2998His)
c.8990T>A (p.Leu2997His)
c.9002T>A (p.Leu3001His)
c.8981T>A (p.Leu2994His)
c.8636T>A (p.Leu2879His)
c.4982T>A (p.Leu1661His)
c.8876T>A (p.Leu2959His)
c.8867T>A (p.Leu2956His)
c.8882T>A (p.Leu2961His)
c.3179T>A (p.Leu1060His)
Xg.31444561G>ACA412655196DMDc.3850C>T (p.Leu1284Phe)
c.1624C>T (p.Leu542Phe)
n.2469C>T
n.2496C>T
c.859C>T (p.Leu287Phe)
c.9004C>T (p.Leu3002Phe)
c.4972C>T (p.Leu1658Phe)
n.2665C>T
c.817C>T (p.Leu273Phe)
c.2092C>T (p.Leu698Phe)
c.8992C>T (p.Leu2998Phe)
c.8989C>T (p.Leu2997Phe)
c.9001C>T (p.Leu3001Phe)
c.8980C>T (p.Leu2994Phe)
c.8635C>T (p.Leu2879Phe)
c.4981C>T (p.Leu1661Phe)
c.8875C>T (p.Leu2959Phe)
c.8866C>T (p.Leu2956Phe)
c.8881C>T (p.Leu2961Phe)
c.3178C>T (p.Leu1060Phe)
Xg.31444561G>CCA412655197DMDc.3850C>G (p.Leu1284Val)
c.1624C>G (p.Leu542Val)
n.2469C>G
n.2496C>G
c.859C>G (p.Leu287Val)
c.9004C>G (p.Leu3002Val)
c.4972C>G (p.Leu1658Val)
n.2665C>G
c.817C>G (p.Leu273Val)
c.2092C>G (p.Leu698Val)
c.8992C>G (p.Leu2998Val)
c.8989C>G (p.Leu2997Val)
c.9001C>G (p.Leu3001Val)
c.8980C>G (p.Leu2994Val)
c.8635C>G (p.Leu2879Val)
c.4981C>G (p.Leu1661Val)
c.8875C>G (p.Leu2959Val)
c.8866C>G (p.Leu2956Val)
c.8881C>G (p.Leu2961Val)
c.3178C>G (p.Leu1060Val)
Xg.31444561G>TCA412655198DMDc.3850C>A (p.Leu1284Ile)
c.1624C>A (p.Leu542Ile)
n.2469C>A
n.2496C>A
c.859C>A (p.Leu287Ile)
c.9004C>A (p.Leu3002Ile)
c.4972C>A (p.Leu1658Ile)
n.2665C>A
c.817C>A (p.Leu273Ile)
c.2092C>A (p.Leu698Ile)
c.8992C>A (p.Leu2998Ile)
c.8989C>A (p.Leu2997Ile)
c.9001C>A (p.Leu3001Ile)
c.8980C>A (p.Leu2994Ile)
c.8635C>A (p.Leu2879Ile)
c.4981C>A (p.Leu1661Ile)
c.8875C>A (p.Leu2959Ile)
c.8866C>A (p.Leu2956Ile)
c.8881C>A (p.Leu2961Ile)
c.3178C>A (p.Leu1060Ile)
Xg.31444562C>ACA412655199DMDc.3849G>T (p.Gln1283His)
c.1623G>T (p.Gln541His)
n.2468G>T
n.2495G>T
c.858G>T (p.Gln286His)
c.9003G>T (p.Gln3001His)
c.4971G>T (p.Gln1657His)
n.2664G>T
c.816G>T (p.Gln272His)
c.2091G>T (p.Gln697His)
c.8991G>T (p.Gln2997His)
c.8988G>T (p.Gln2996His)
c.9000G>T (p.Gln3000His)
c.8979G>T (p.Gln2993His)
c.8634G>T (p.Gln2878His)
c.4980G>T (p.Gln1660His)
c.8874G>T (p.Gln2958His)
c.8865G>T (p.Gln2955His)
c.8880G>T (p.Gln2960His)
c.3177G>T (p.Gln1059His)
Xg.31444562C>GCA412655200DMDc.3849G>C (p.Gln1283His)
c.1623G>C (p.Gln541His)
n.2468G>C
n.2495G>C
c.858G>C (p.Gln286His)
c.9003G>C (p.Gln3001His)
c.4971G>C (p.Gln1657His)
n.2664G>C
c.816G>C (p.Gln272His)
c.2091G>C (p.Gln697His)
c.8991G>C (p.Gln2997His)
c.8988G>C (p.Gln2996His)
c.9000G>C (p.Gln3000His)
c.8979G>C (p.Gln2993His)
c.8634G>C (p.Gln2878His)
c.4980G>C (p.Gln1660His)
c.8874G>C (p.Gln2958His)
c.8865G>C (p.Gln2955His)
c.8880G>C (p.Gln2960His)
c.3177G>C (p.Gln1059His)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444562C>TCA515858257DMDc.3849G>A (p.Gln1283=)
c.1623G>A (p.Gln541=)
n.2468G>A
n.2495G>A
c.858G>A (p.Gln286=)
c.9003G>A (p.Gln3001=)
c.4971G>A (p.Gln1657=)
n.2664G>A
c.816G>A (p.Gln272=)
c.2091G>A (p.Gln697=)
c.8991G>A (p.Gln2997=)
c.8988G>A (p.Gln2996=)
c.9000G>A (p.Gln3000=)
c.8979G>A (p.Gln2993=)
c.8634G>A (p.Gln2878=)
c.4980G>A (p.Gln1660=)
c.8874G>A (p.Gln2958=)
c.8865G>A (p.Gln2955=)
c.8880G>A (p.Gln2960=)
c.3177G>A (p.Gln1059=)
Xg.31444563T>ACA412655203DMDc.3848A>T (p.Gln1283Leu)
c.1622A>T (p.Gln541Leu)
n.2467A>T
n.2494A>T
c.857A>T (p.Gln286Leu)
c.9002A>T (p.Gln3001Leu)
c.4970A>T (p.Gln1657Leu)
n.2663A>T
c.815A>T (p.Gln272Leu)
c.2090A>T (p.Gln697Leu)
c.8990A>T (p.Gln2997Leu)
c.8987A>T (p.Gln2996Leu)
c.8999A>T (p.Gln3000Leu)
c.8978A>T (p.Gln2993Leu)
c.8633A>T (p.Gln2878Leu)
c.4979A>T (p.Gln1660Leu)
c.8873A>T (p.Gln2958Leu)
c.8864A>T (p.Gln2955Leu)
c.8879A>T (p.Gln2960Leu)
c.3176A>T (p.Gln1059Leu)
Xg.31444563T>CCA412655202DMDc.3848A>G (p.Gln1283Arg)
c.1622A>G (p.Gln541Arg)
n.2467A>G
n.2494A>G
c.857A>G (p.Gln286Arg)
c.9002A>G (p.Gln3001Arg)
c.4970A>G (p.Gln1657Arg)
n.2663A>G
c.815A>G (p.Gln272Arg)
c.2090A>G (p.Gln697Arg)
c.8990A>G (p.Gln2997Arg)
c.8987A>G (p.Gln2996Arg)
c.8999A>G (p.Gln3000Arg)
c.8978A>G (p.Gln2993Arg)
c.8633A>G (p.Gln2878Arg)
c.4979A>G (p.Gln1660Arg)
c.8873A>G (p.Gln2958Arg)
c.8864A>G (p.Gln2955Arg)
c.8879A>G (p.Gln2960Arg)
c.3176A>G (p.Gln1059Arg)
Xg.31444563T>GCA412655201DMDc.3848A>C (p.Gln1283Pro)
c.1622A>C (p.Gln541Pro)
n.2467A>C
n.2494A>C
c.857A>C (p.Gln286Pro)
c.9002A>C (p.Gln3001Pro)
c.4970A>C (p.Gln1657Pro)
n.2663A>C
c.815A>C (p.Gln272Pro)
c.2090A>C (p.Gln697Pro)
c.8990A>C (p.Gln2997Pro)
c.8987A>C (p.Gln2996Pro)
c.8999A>C (p.Gln3000Pro)
c.8978A>C (p.Gln2993Pro)
c.8633A>C (p.Gln2878Pro)
c.4979A>C (p.Gln1660Pro)
c.8873A>C (p.Gln2958Pro)
c.8864A>C (p.Gln2955Pro)
c.8879A>C (p.Gln2960Pro)
c.3176A>C (p.Gln1059Pro)
 ClinVar gnomAD v4
Xg.31444564G>ACA412655204DMDc.3847C>T (p.Gln1283Ter)
c.1621C>T (p.Gln541Ter)
n.2466C>T
n.2493C>T
c.856C>T (p.Gln286Ter)
c.9001C>T (p.Gln3001Ter)
c.4969C>T (p.Gln1657Ter)
n.2662C>T
c.814C>T (p.Gln272Ter)
c.2089C>T (p.Gln697Ter)
c.8989C>T (p.Gln2997Ter)
c.8986C>T (p.Gln2996Ter)
c.8998C>T (p.Gln3000Ter)
c.8977C>T (p.Gln2993Ter)
c.8632C>T (p.Gln2878Ter)
c.4978C>T (p.Gln1660Ter)
c.8872C>T (p.Gln2958Ter)
c.8863C>T (p.Gln2955Ter)
c.8878C>T (p.Gln2960Ter)
c.3175C>T (p.Gln1059Ter)
 dbSNP
Xg.31444564G>CCA412655206DMDc.3847C>G (p.Gln1283Glu)
c.1621C>G (p.Gln541Glu)
n.2466C>G
n.2493C>G
c.856C>G (p.Gln286Glu)
c.9001C>G (p.Gln3001Glu)
c.4969C>G (p.Gln1657Glu)
n.2662C>G
c.814C>G (p.Gln272Glu)
c.2089C>G (p.Gln697Glu)
c.8989C>G (p.Gln2997Glu)
c.8986C>G (p.Gln2996Glu)
c.8998C>G (p.Gln3000Glu)
c.8977C>G (p.Gln2993Glu)
c.8632C>G (p.Gln2878Glu)
c.4978C>G (p.Gln1660Glu)
c.8872C>G (p.Gln2958Glu)
c.8863C>G (p.Gln2955Glu)
c.8878C>G (p.Gln2960Glu)
c.3175C>G (p.Gln1059Glu)
Xg.31444564G>TCA412655205DMDc.3847C>A (p.Gln1283Lys)
c.1621C>A (p.Gln541Lys)
n.2466C>A
n.2493C>A
c.856C>A (p.Gln286Lys)
c.9001C>A (p.Gln3001Lys)
c.4969C>A (p.Gln1657Lys)
n.2662C>A
c.814C>A (p.Gln272Lys)
c.2089C>A (p.Gln697Lys)
c.8989C>A (p.Gln2997Lys)
c.8986C>A (p.Gln2996Lys)
c.8998C>A (p.Gln3000Lys)
c.8977C>A (p.Gln2993Lys)
c.8632C>A (p.Gln2878Lys)
c.4978C>A (p.Gln1660Lys)
c.8872C>A (p.Gln2958Lys)
c.8863C>A (p.Gln2955Lys)
c.8878C>A (p.Gln2960Lys)
c.3175C>A (p.Gln1059Lys)
 ClinVar
Xg.31444564_31444565insCAGTTTCCTCAGAGGCATACCTTCTGCATCCTGTTGGAAAGGAGAAAATTGGAAAGGAGAGAAAATCA2693362098DMDc.3846_3847insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1282_Gln1283insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.1620_1621insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg540_Gln541insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
n.2465_2466insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG
n.2492_2493insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG
c.855_856insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg285_Gln286insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.9000_9001insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg3000_Gln3001insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.4968_4969insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1656_Gln1657insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
n.2661_2662insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG
c.813_814insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg271_Gln272insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.2088_2089insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg696_Gln697insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8988_8989insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2996_Gln2997insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8985_8986insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2995_Gln2996insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8997_8998insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2999_Gln3000insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8976_8977insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2992_Gln2993insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8631_8632insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2877_Gln2878insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.4977_4978insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1659_Gln1660insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8871_8872insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2957_Gln2958insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8862_8863insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2954_Gln2955insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.8877_8878insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg2959_Gln2960insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
c.3174_3175insATTTTCTCTCCTTTCCAATTTTCTCCTTTCCAACAGGATGCAGAAGGTATGCCTCTGAGGAAACTG (p.Arg1058_Gln1059insIlePheSerProPheGlnPheSerProPheGlnGlnAspAlaGluGlyMetProLeuArgLysLeu)
 gnomAD v4
Xg.31444565G>ACA515858259DMDc.3846C>T (p.Arg1282=)
c.1620C>T (p.Arg540=)
n.2465C>T
n.2492C>T
c.855C>T (p.Arg285=)
c.9000C>T (p.Arg3000=)
c.4968C>T (p.Arg1656=)
n.2661C>T
c.813C>T (p.Arg271=)
c.2088C>T (p.Arg696=)
c.8988C>T (p.Arg2996=)
c.8985C>T (p.Arg2995=)
c.8997C>T (p.Arg2999=)
c.8976C>T (p.Arg2992=)
c.8631C>T (p.Arg2877=)
c.4977C>T (p.Arg1659=)
c.8871C>T (p.Arg2957=)
c.8862C>T (p.Arg2954=)
c.8877C>T (p.Arg2959=)
c.3174C>T (p.Arg1058=)
Xg.31444565G>CCA515858260DMDc.3846C>G (p.Arg1282=)
c.1620C>G (p.Arg540=)
n.2465C>G
n.2492C>G
c.855C>G (p.Arg285=)
c.9000C>G (p.Arg3000=)
c.4968C>G (p.Arg1656=)
n.2661C>G
c.813C>G (p.Arg271=)
c.2088C>G (p.Arg696=)
c.8988C>G (p.Arg2996=)
c.8985C>G (p.Arg2995=)
c.8997C>G (p.Arg2999=)
c.8976C>G (p.Arg2992=)
c.8631C>G (p.Arg2877=)
c.4977C>G (p.Arg1659=)
c.8871C>G (p.Arg2957=)
c.8862C>G (p.Arg2954=)
c.8877C>G (p.Arg2959=)
c.3174C>G (p.Arg1058=)
Xg.31444565G>TCA515858261DMDc.3846C>A (p.Arg1282=)
c.1620C>A (p.Arg540=)
n.2465C>A
n.2492C>A
c.855C>A (p.Arg285=)
c.9000C>A (p.Arg3000=)
c.4968C>A (p.Arg1656=)
n.2661C>A
c.813C>A (p.Arg271=)
c.2088C>A (p.Arg696=)
c.8988C>A (p.Arg2996=)
c.8985C>A (p.Arg2995=)
c.8997C>A (p.Arg2999=)
c.8976C>A (p.Arg2992=)
c.8631C>A (p.Arg2877=)
c.4977C>A (p.Arg1659=)
c.8871C>A (p.Arg2957=)
c.8862C>A (p.Arg2954=)
c.8877C>A (p.Arg2959=)
c.3174C>A (p.Arg1058=)
Xg.31444566C>ACA412655207DMDc.3845G>T (p.Arg1282Leu)
c.1619G>T (p.Arg540Leu)
n.2464G>T
n.2491G>T
c.854G>T (p.Arg285Leu)
c.8999G>T (p.Arg3000Leu)
c.4967G>T (p.Arg1656Leu)
n.2660G>T
c.812G>T (p.Arg271Leu)
c.2087G>T (p.Arg696Leu)
c.8987G>T (p.Arg2996Leu)
c.8984G>T (p.Arg2995Leu)
c.8996G>T (p.Arg2999Leu)
c.8975G>T (p.Arg2992Leu)
c.8630G>T (p.Arg2877Leu)
c.4976G>T (p.Arg1659Leu)
c.8870G>T (p.Arg2957Leu)
c.8861G>T (p.Arg2954Leu)
c.8876G>T (p.Arg2959Leu)
c.3173G>T (p.Arg1058Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444566C=CA2422434056DMDc.3845G= (p.Arg1282=)
c.1619G= (p.Arg540=)
n.2464G=
n.2491G=
c.854G= (p.Arg285=)
c.8999G= (p.Arg3000=)
c.4967G= (p.Arg1656=)
n.2660G=
c.812G= (p.Arg271=)
c.2087G= (p.Arg696=)
c.8987G= (p.Arg2996=)
c.8984G= (p.Arg2995=)
c.8996G= (p.Arg2999=)
c.8975G= (p.Arg2992=)
c.8630G= (p.Arg2877=)
c.4976G= (p.Arg1659=)
c.8870G= (p.Arg2957=)
c.8861G= (p.Arg2954=)
c.8876G= (p.Arg2959=)
c.3173G= (p.Arg1058=)
Xg.31444566C>GCA412655208DMDc.3845G>C (p.Arg1282Pro)
c.1619G>C (p.Arg540Pro)
n.2464G>C
n.2491G>C
c.854G>C (p.Arg285Pro)
c.8999G>C (p.Arg3000Pro)
c.4967G>C (p.Arg1656Pro)
n.2660G>C
c.812G>C (p.Arg271Pro)
c.2087G>C (p.Arg696Pro)
c.8987G>C (p.Arg2996Pro)
c.8984G>C (p.Arg2995Pro)
c.8996G>C (p.Arg2999Pro)
c.8975G>C (p.Arg2992Pro)
c.8630G>C (p.Arg2877Pro)
c.4976G>C (p.Arg1659Pro)
c.8870G>C (p.Arg2957Pro)
c.8861G>C (p.Arg2954Pro)
c.8876G>C (p.Arg2959Pro)
c.3173G>C (p.Arg1058Pro)
Xg.31444566C>TCA10377939DMDc.3845G>A (p.Arg1282His)
c.1619G>A (p.Arg540His)
n.2464G>A
n.2491G>A
c.854G>A (p.Arg285His)
c.8999G>A (p.Arg3000His)
c.4967G>A (p.Arg1656His)
n.2660G>A
c.812G>A (p.Arg271His)
c.2087G>A (p.Arg696His)
c.8987G>A (p.Arg2996His)
c.8984G>A (p.Arg2995His)
c.8996G>A (p.Arg2999His)
c.8975G>A (p.Arg2992His)
c.8630G>A (p.Arg2877His)
c.4976G>A (p.Arg1659His)
c.8870G>A (p.Arg2957His)
c.8861G>A (p.Arg2954His)
c.8876G>A (p.Arg2959His)
c.3173G>A (p.Arg1058His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444567G>ACA412655209DMDc.3844C>T (p.Arg1282Cys)
c.1618C>T (p.Arg540Cys)
n.2463C>T
n.2490C>T
c.853C>T (p.Arg285Cys)
c.8998C>T (p.Arg3000Cys)
c.4966C>T (p.Arg1656Cys)
n.2659C>T
c.811C>T (p.Arg271Cys)
c.2086C>T (p.Arg696Cys)
c.8986C>T (p.Arg2996Cys)
c.8983C>T (p.Arg2995Cys)
c.8995C>T (p.Arg2999Cys)
c.8974C>T (p.Arg2992Cys)
c.8629C>T (p.Arg2877Cys)
c.4975C>T (p.Arg1659Cys)
c.8869C>T (p.Arg2957Cys)
c.8860C>T (p.Arg2954Cys)
c.8875C>T (p.Arg2959Cys)
c.3172C>T (p.Arg1058Cys)
 ClinVar dbSNP gnomAD v4
Xg.31444567G>CCA412655210DMDc.3844C>G (p.Arg1282Gly)
c.1618C>G (p.Arg540Gly)
n.2463C>G
n.2490C>G
c.853C>G (p.Arg285Gly)
c.8998C>G (p.Arg3000Gly)
c.4966C>G (p.Arg1656Gly)
n.2659C>G
c.811C>G (p.Arg271Gly)
c.2086C>G (p.Arg696Gly)
c.8986C>G (p.Arg2996Gly)
c.8983C>G (p.Arg2995Gly)
c.8995C>G (p.Arg2999Gly)
c.8974C>G (p.Arg2992Gly)
c.8629C>G (p.Arg2877Gly)
c.4975C>G (p.Arg1659Gly)
c.8869C>G (p.Arg2957Gly)
c.8860C>G (p.Arg2954Gly)
c.8875C>G (p.Arg2959Gly)
c.3172C>G (p.Arg1058Gly)
Xg.31444567G>TCA412655211DMDc.3844C>A (p.Arg1282Ser)
c.1618C>A (p.Arg540Ser)
n.2463C>A
n.2490C>A
c.853C>A (p.Arg285Ser)
c.8998C>A (p.Arg3000Ser)
c.4966C>A (p.Arg1656Ser)
n.2659C>A
c.811C>A (p.Arg271Ser)
c.2086C>A (p.Arg696Ser)
c.8986C>A (p.Arg2996Ser)
c.8983C>A (p.Arg2995Ser)
c.8995C>A (p.Arg2999Ser)
c.8974C>A (p.Arg2992Ser)
c.8629C>A (p.Arg2877Ser)
c.4975C>A (p.Arg1659Ser)
c.8869C>A (p.Arg2957Ser)
c.8860C>A (p.Arg2954Ser)
c.8875C>A (p.Arg2959Ser)
c.3172C>A (p.Arg1058Ser)
Xg.31444568A=CA2422434057DMDc.3843T= (p.Ala1281=)
c.1617T= (p.Ala539=)
n.2462T=
n.2489T=
c.852T= (p.Ala284=)
c.8997T= (p.Ala2999=)
c.4965T= (p.Ala1655=)
n.2658T=
c.810T= (p.Ala270=)
c.2085T= (p.Ala695=)
c.8985T= (p.Ala2995=)
c.8982T= (p.Ala2994=)
c.8994T= (p.Ala2998=)
c.8973T= (p.Ala2991=)
c.8628T= (p.Ala2876=)
c.4974T= (p.Ala1658=)
c.8868T= (p.Ala2956=)
c.8859T= (p.Ala2953=)
c.8874T= (p.Ala2958=)
c.3171T= (p.Ala1057=)
Xg.31444568A>CCA515858262DMDc.3843T>G (p.Ala1281=)
c.1617T>G (p.Ala539=)
n.2462T>G
n.2489T>G
c.852T>G (p.Ala284=)
c.8997T>G (p.Ala2999=)
c.4965T>G (p.Ala1655=)
n.2658T>G
c.810T>G (p.Ala270=)
c.2085T>G (p.Ala695=)
c.8985T>G (p.Ala2995=)
c.8982T>G (p.Ala2994=)
c.8994T>G (p.Ala2998=)
c.8973T>G (p.Ala2991=)
c.8628T>G (p.Ala2876=)
c.4974T>G (p.Ala1658=)
c.8868T>G (p.Ala2956=)
c.8859T>G (p.Ala2953=)
c.8874T>G (p.Ala2958=)
c.3171T>G (p.Ala1057=)
Xg.31444568A>GCA515858263DMDc.3843T>C (p.Ala1281=)
c.1617T>C (p.Ala539=)
n.2462T>C
n.2489T>C
c.852T>C (p.Ala284=)
c.8997T>C (p.Ala2999=)
c.4965T>C (p.Ala1655=)
n.2658T>C
c.810T>C (p.Ala270=)
c.2085T>C (p.Ala695=)
c.8985T>C (p.Ala2995=)
c.8982T>C (p.Ala2994=)
c.8994T>C (p.Ala2998=)
c.8973T>C (p.Ala2991=)
c.8628T>C (p.Ala2876=)
c.4974T>C (p.Ala1658=)
c.8868T>C (p.Ala2956=)
c.8859T>C (p.Ala2953=)
c.8874T>C (p.Ala2958=)
c.3171T>C (p.Ala1057=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444568A>TCA515858264DMDc.3843T>A (p.Ala1281=)
c.1617T>A (p.Ala539=)
n.2462T>A
n.2489T>A
c.852T>A (p.Ala284=)
c.8997T>A (p.Ala2999=)
c.4965T>A (p.Ala1655=)
n.2658T>A
c.810T>A (p.Ala270=)
c.2085T>A (p.Ala695=)
c.8985T>A (p.Ala2995=)
c.8982T>A (p.Ala2994=)
c.8994T>A (p.Ala2998=)
c.8973T>A (p.Ala2991=)
c.8628T>A (p.Ala2876=)
c.4974T>A (p.Ala1658=)
c.8868T>A (p.Ala2956=)
c.8859T>A (p.Ala2953=)
c.8874T>A (p.Ala2958=)
c.3171T>A (p.Ala1057=)
Xg.31444569G>ACA10377940DMDc.3842C>T (p.Ala1281Val)
c.1616C>T (p.Ala539Val)
n.2461C>T
n.2488C>T
c.851C>T (p.Ala284Val)
c.8996C>T (p.Ala2999Val)
c.4964C>T (p.Ala1655Val)
n.2657C>T
c.809C>T (p.Ala270Val)
c.2084C>T (p.Ala695Val)
c.8984C>T (p.Ala2995Val)
c.8981C>T (p.Ala2994Val)
c.8993C>T (p.Ala2998Val)
c.8972C>T (p.Ala2991Val)
c.8627C>T (p.Ala2876Val)
c.4973C>T (p.Ala1658Val)
c.8867C>T (p.Ala2956Val)
c.8858C>T (p.Ala2953Val)
c.8873C>T (p.Ala2958Val)
c.3170C>T (p.Ala1057Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444569G>CCA412655212DMDc.3842C>G (p.Ala1281Gly)
c.1616C>G (p.Ala539Gly)
n.2461C>G
n.2488C>G
c.851C>G (p.Ala284Gly)
c.8996C>G (p.Ala2999Gly)
c.4964C>G (p.Ala1655Gly)
n.2657C>G
c.809C>G (p.Ala270Gly)
c.2084C>G (p.Ala695Gly)
c.8984C>G (p.Ala2995Gly)
c.8981C>G (p.Ala2994Gly)
c.8993C>G (p.Ala2998Gly)
c.8972C>G (p.Ala2991Gly)
c.8627C>G (p.Ala2876Gly)
c.4973C>G (p.Ala1658Gly)
c.8867C>G (p.Ala2956Gly)
c.8858C>G (p.Ala2953Gly)
c.8873C>G (p.Ala2958Gly)
c.3170C>G (p.Ala1057Gly)
Xg.31444569G=CA2422434058DMDc.3842C= (p.Ala1281=)
c.1616C= (p.Ala539=)
n.2461C=
n.2488C=
c.851C= (p.Ala284=)
c.8996C= (p.Ala2999=)
c.4964C= (p.Ala1655=)
n.2657C=
c.809C= (p.Ala270=)
c.2084C= (p.Ala695=)
c.8984C= (p.Ala2995=)
c.8981C= (p.Ala2994=)
c.8993C= (p.Ala2998=)
c.8972C= (p.Ala2991=)
c.8627C= (p.Ala2876=)
c.4973C= (p.Ala1658=)
c.8867C= (p.Ala2956=)
c.8858C= (p.Ala2953=)
c.8873C= (p.Ala2958=)
c.3170C= (p.Ala1057=)
Xg.31444569G>TCA412655213DMDc.3842C>A (p.Ala1281Asp)
c.1616C>A (p.Ala539Asp)
n.2461C>A
n.2488C>A
c.851C>A (p.Ala284Asp)
c.8996C>A (p.Ala2999Asp)
c.4964C>A (p.Ala1655Asp)
n.2657C>A
c.809C>A (p.Ala270Asp)
c.2084C>A (p.Ala695Asp)
c.8984C>A (p.Ala2995Asp)
c.8981C>A (p.Ala2994Asp)
c.8993C>A (p.Ala2998Asp)
c.8972C>A (p.Ala2991Asp)
c.8627C>A (p.Ala2876Asp)
c.4973C>A (p.Ala1658Asp)
c.8867C>A (p.Ala2956Asp)
c.8858C>A (p.Ala2953Asp)
c.8873C>A (p.Ala2958Asp)
c.3170C>A (p.Ala1057Asp)
Xg.31444570C>ACA412655214DMDc.3841G>T (p.Ala1281Ser)
c.1615G>T (p.Ala539Ser)
n.2460G>T
n.2487G>T
c.850G>T (p.Ala284Ser)
c.8995G>T (p.Ala2999Ser)
c.4963G>T (p.Ala1655Ser)
n.2656G>T
c.808G>T (p.Ala270Ser)
c.2083G>T (p.Ala695Ser)
c.8983G>T (p.Ala2995Ser)
c.8980G>T (p.Ala2994Ser)
c.8992G>T (p.Ala2998Ser)
c.8971G>T (p.Ala2991Ser)
c.8626G>T (p.Ala2876Ser)
c.4972G>T (p.Ala1658Ser)
c.8866G>T (p.Ala2956Ser)
c.8857G>T (p.Ala2953Ser)
c.8872G>T (p.Ala2958Ser)
c.3169G>T (p.Ala1057Ser)
 dbSNP
Xg.31444570C=CA2422434059DMDc.3841G= (p.Ala1281=)
c.1615G= (p.Ala539=)
n.2460G=
n.2487G=
c.850G= (p.Ala284=)
c.8995G= (p.Ala2999=)
c.4963G= (p.Ala1655=)
n.2656G=
c.808G= (p.Ala270=)
c.2083G= (p.Ala695=)
c.8983G= (p.Ala2995=)
c.8980G= (p.Ala2994=)
c.8992G= (p.Ala2998=)
c.8971G= (p.Ala2991=)
c.8626G= (p.Ala2876=)
c.4972G= (p.Ala1658=)
c.8866G= (p.Ala2956=)
c.8857G= (p.Ala2953=)
c.8872G= (p.Ala2958=)
c.3169G= (p.Ala1057=)
Xg.31444570C>GCA328429790DMDc.3841G>C (p.Ala1281Pro)
c.1615G>C (p.Ala539Pro)
n.2460G>C
n.2487G>C
c.850G>C (p.Ala284Pro)
c.8995G>C (p.Ala2999Pro)
c.4963G>C (p.Ala1655Pro)
n.2656G>C
c.808G>C (p.Ala270Pro)
c.2083G>C (p.Ala695Pro)
c.8983G>C (p.Ala2995Pro)
c.8980G>C (p.Ala2994Pro)
c.8992G>C (p.Ala2998Pro)
c.8971G>C (p.Ala2991Pro)
c.8626G>C (p.Ala2876Pro)
c.4972G>C (p.Ala1658Pro)
c.8866G>C (p.Ala2956Pro)
c.8857G>C (p.Ala2953Pro)
c.8872G>C (p.Ala2958Pro)
c.3169G>C (p.Ala1057Pro)
 dbSNP
Xg.31444570C>TCA412655215DMDc.3841G>A (p.Ala1281Thr)
c.1615G>A (p.Ala539Thr)
n.2460G>A
n.2487G>A
c.850G>A (p.Ala284Thr)
c.8995G>A (p.Ala2999Thr)
c.4963G>A (p.Ala1655Thr)
n.2656G>A
c.808G>A (p.Ala270Thr)
c.2083G>A (p.Ala695Thr)
c.8983G>A (p.Ala2995Thr)
c.8980G>A (p.Ala2994Thr)
c.8992G>A (p.Ala2998Thr)
c.8971G>A (p.Ala2991Thr)
c.8626G>A (p.Ala2876Thr)
c.4972G>A (p.Ala1658Thr)
c.8866G>A (p.Ala2956Thr)
c.8857G>A (p.Ala2953Thr)
c.8872G>A (p.Ala2958Thr)
c.3169G>A (p.Ala1057Thr)
 dbSNP gnomAD v4
Xg.31444571A>CCA515858266DMDc.3840T>G (p.Leu1280=)
c.1614T>G (p.Leu538=)
n.2459T>G
n.2486T>G
c.849T>G (p.Leu283=)
c.8994T>G (p.Leu2998=)
c.4962T>G (p.Leu1654=)
n.2655T>G
c.807T>G (p.Leu269=)
c.2082T>G (p.Leu694=)
c.8982T>G (p.Leu2994=)
c.8979T>G (p.Leu2993=)
c.8991T>G (p.Leu2997=)
c.8970T>G (p.Leu2990=)
c.8625T>G (p.Leu2875=)
c.4971T>G (p.Leu1657=)
c.8865T>G (p.Leu2955=)
c.8856T>G (p.Leu2952=)
c.8871T>G (p.Leu2957=)
c.3168T>G (p.Leu1056=)
Xg.31444571A>GCA515858267DMDc.3840T>C (p.Leu1280=)
c.1614T>C (p.Leu538=)
n.2459T>C
n.2486T>C
c.849T>C (p.Leu283=)
c.8994T>C (p.Leu2998=)
c.4962T>C (p.Leu1654=)
n.2655T>C
c.807T>C (p.Leu269=)
c.2082T>C (p.Leu694=)
c.8982T>C (p.Leu2994=)
c.8979T>C (p.Leu2993=)
c.8991T>C (p.Leu2997=)
c.8970T>C (p.Leu2990=)
c.8625T>C (p.Leu2875=)
c.4971T>C (p.Leu1657=)
c.8865T>C (p.Leu2955=)
c.8856T>C (p.Leu2952=)
c.8871T>C (p.Leu2957=)
c.3168T>C (p.Leu1056=)
Xg.31444571A>TCA515858268DMDc.3840T>A (p.Leu1280=)
c.1614T>A (p.Leu538=)
n.2459T>A
n.2486T>A
c.849T>A (p.Leu283=)
c.8994T>A (p.Leu2998=)
c.4962T>A (p.Leu1654=)
n.2655T>A
c.807T>A (p.Leu269=)
c.2082T>A (p.Leu694=)
c.8982T>A (p.Leu2994=)
c.8979T>A (p.Leu2993=)
c.8991T>A (p.Leu2997=)
c.8970T>A (p.Leu2990=)
c.8625T>A (p.Leu2875=)
c.4971T>A (p.Leu1657=)
c.8865T>A (p.Leu2955=)
c.8856T>A (p.Leu2952=)
c.8871T>A (p.Leu2957=)
c.3168T>A (p.Leu1056=)
Xg.31444572A>CCA412655218DMDc.3839T>G (p.Leu1280Arg)
c.1613T>G (p.Leu538Arg)
n.2458T>G
n.2485T>G
c.848T>G (p.Leu283Arg)
c.8993T>G (p.Leu2998Arg)
c.4961T>G (p.Leu1654Arg)
n.2654T>G
c.806T>G (p.Leu269Arg)
c.2081T>G (p.Leu694Arg)
c.8981T>G (p.Leu2994Arg)
c.8978T>G (p.Leu2993Arg)
c.8990T>G (p.Leu2997Arg)
c.8969T>G (p.Leu2990Arg)
c.8624T>G (p.Leu2875Arg)
c.4970T>G (p.Leu1657Arg)
c.8864T>G (p.Leu2955Arg)
c.8855T>G (p.Leu2952Arg)
c.8870T>G (p.Leu2957Arg)
c.3167T>G (p.Leu1056Arg)
Xg.31444572A>GCA412655216DMDc.3839T>C (p.Leu1280Pro)
c.1613T>C (p.Leu538Pro)
n.2458T>C
n.2485T>C
c.848T>C (p.Leu283Pro)
c.8993T>C (p.Leu2998Pro)
c.4961T>C (p.Leu1654Pro)
n.2654T>C
c.806T>C (p.Leu269Pro)
c.2081T>C (p.Leu694Pro)
c.8981T>C (p.Leu2994Pro)
c.8978T>C (p.Leu2993Pro)
c.8990T>C (p.Leu2997Pro)
c.8969T>C (p.Leu2990Pro)
c.8624T>C (p.Leu2875Pro)
c.4970T>C (p.Leu1657Pro)
c.8864T>C (p.Leu2955Pro)
c.8855T>C (p.Leu2952Pro)
c.8870T>C (p.Leu2957Pro)
c.3167T>C (p.Leu1056Pro)
Xg.31444572A>TCA412655217DMDc.3839T>A (p.Leu1280His)
c.1613T>A (p.Leu538His)
n.2458T>A
n.2485T>A
c.848T>A (p.Leu283His)
c.8993T>A (p.Leu2998His)
c.4961T>A (p.Leu1654His)
n.2654T>A
c.806T>A (p.Leu269His)
c.2081T>A (p.Leu694His)
c.8981T>A (p.Leu2994His)
c.8978T>A (p.Leu2993His)
c.8990T>A (p.Leu2997His)
c.8969T>A (p.Leu2990His)
c.8624T>A (p.Leu2875His)
c.4970T>A (p.Leu1657His)
c.8864T>A (p.Leu2955His)
c.8855T>A (p.Leu2952His)
c.8870T>A (p.Leu2957His)
c.3167T>A (p.Leu1056His)
Xg.31444572_31444573delinsAGCA2422434060DMDc.3838_3839delinsCT (p.Leu1280=)
c.1612_1613delinsCT (p.Leu538=)
n.2457_2458delinsCT
n.2484_2485delinsCT
c.847_848delinsCT (p.Leu283=)
c.8992_8993delinsCT (p.Leu2998=)
c.4960_4961delinsCT (p.Leu1654=)
n.2653_2654delinsCT
c.805_806delinsCT (p.Leu269=)
c.2080_2081delinsCT (p.Leu694=)
c.8980_8981delinsCT (p.Leu2994=)
c.8977_8978delinsCT (p.Leu2993=)
c.8989_8990delinsCT (p.Leu2997=)
c.8968_8969delinsCT (p.Leu2990=)
c.8623_8624delinsCT (p.Leu2875=)
c.4969_4970delinsCT (p.Leu1657=)
c.8863_8864delinsCT (p.Leu2955=)
c.8854_8855delinsCT (p.Leu2952=)
c.8869_8870delinsCT (p.Leu2957=)
c.3166_3167delinsCT (p.Leu1056=)
Xg.31444573G>ACA412655219DMDc.3838C>T (p.Leu1280Phe)
c.1612C>T (p.Leu538Phe)
n.2457C>T
n.2484C>T
c.847C>T (p.Leu283Phe)
c.8992C>T (p.Leu2998Phe)
c.4960C>T (p.Leu1654Phe)
n.2653C>T
c.805C>T (p.Leu269Phe)
c.2080C>T (p.Leu694Phe)
c.8980C>T (p.Leu2994Phe)
c.8977C>T (p.Leu2993Phe)
c.8989C>T (p.Leu2997Phe)
c.8968C>T (p.Leu2990Phe)
c.8623C>T (p.Leu2875Phe)
c.4969C>T (p.Leu1657Phe)
c.8863C>T (p.Leu2955Phe)
c.8854C>T (p.Leu2952Phe)
c.8869C>T (p.Leu2957Phe)
c.3166C>T (p.Leu1056Phe)
Xg.31444573G>CCA412655220DMDc.3838C>G (p.Leu1280Val)
c.1612C>G (p.Leu538Val)
n.2457C>G
n.2484C>G
c.847C>G (p.Leu283Val)
c.8992C>G (p.Leu2998Val)
c.4960C>G (p.Leu1654Val)
n.2653C>G
c.805C>G (p.Leu269Val)
c.2080C>G (p.Leu694Val)
c.8980C>G (p.Leu2994Val)
c.8977C>G (p.Leu2993Val)
c.8989C>G (p.Leu2997Val)
c.8968C>G (p.Leu2990Val)
c.8623C>G (p.Leu2875Val)
c.4969C>G (p.Leu1657Val)
c.8863C>G (p.Leu2955Val)
c.8854C>G (p.Leu2952Val)
c.8869C>G (p.Leu2957Val)
c.3166C>G (p.Leu1056Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.31444573G=CA2422434061DMDc.3838C= (p.Leu1280=)
c.1612C= (p.Leu538=)
n.2457C=
n.2484C=
c.847C= (p.Leu283=)
c.8992C= (p.Leu2998=)
c.4960C= (p.Leu1654=)
n.2653C=
c.805C= (p.Leu269=)
c.2080C= (p.Leu694=)
c.8980C= (p.Leu2994=)
c.8977C= (p.Leu2993=)
c.8989C= (p.Leu2997=)
c.8968C= (p.Leu2990=)
c.8623C= (p.Leu2875=)
c.4969C= (p.Leu1657=)
c.8863C= (p.Leu2955=)
c.8854C= (p.Leu2952=)
c.8869C= (p.Leu2957=)
c.3166C= (p.Leu1056=)
Xg.31444573G>TCA412655221DMDc.3838C>A (p.Leu1280Ile)
c.1612C>A (p.Leu538Ile)
n.2457C>A
n.2484C>A
c.847C>A (p.Leu283Ile)
c.8992C>A (p.Leu2998Ile)
c.4960C>A (p.Leu1654Ile)
n.2653C>A
c.805C>A (p.Leu269Ile)
c.2080C>A (p.Leu694Ile)
c.8980C>A (p.Leu2994Ile)
c.8977C>A (p.Leu2993Ile)
c.8989C>A (p.Leu2997Ile)
c.8968C>A (p.Leu2990Ile)
c.8623C>A (p.Leu2875Ile)
c.4969C>A (p.Leu1657Ile)
c.8863C>A (p.Leu2955Ile)
c.8854C>A (p.Leu2952Ile)
c.8869C>A (p.Leu2957Ile)
c.3166C>A (p.Leu1056Ile)
Xg.31444574delCA915950939DMDc.3838del (p.Ala1281LeufsTer22)
c.1612del (p.Ala539LeufsTer22)
n.2457del
n.2484del
c.847del (p.Ala284LeufsTer22)
c.8992del (p.Ala2999LeufsTer22)
c.4960del (p.Ala1655LeufsTer22)
n.2653del
c.805del (p.Ala270LeufsTer22)
c.2080del (p.Ala695LeufsTer22)
c.8980del (p.Ala2995LeufsTer22)
c.8977del (p.Ala2994LeufsTer22)
c.8989del (p.Ala2998LeufsTer22)
c.8968del (p.Ala2991LeufsTer22)
c.8623del (p.Ala2876LeufsTer22)
c.4969del (p.Ala1658LeufsTer22)
c.8863del (p.Ala2956LeufsTer22)
c.8854del (p.Ala2953LeufsTer22)
c.8869del (p.Ala2958LeufsTer22)
c.3166del (p.Ala1057LeufsTer22)
 ClinVar dbSNP
Xg.31444574G>ACA515858269DMDc.3837C>T (p.Asp1279=)
c.1611C>T (p.Asp537=)
n.2456C>T
n.2483C>T
c.846C>T (p.Asp282=)
c.8991C>T (p.Asp2997=)
c.4959C>T (p.Asp1653=)
n.2652C>T
c.804C>T (p.Asp268=)
c.2079C>T (p.Asp693=)
c.8979C>T (p.Asp2993=)
c.8976C>T (p.Asp2992=)
c.8988C>T (p.Asp2996=)
c.8967C>T (p.Asp2989=)
c.8622C>T (p.Asp2874=)
c.4968C>T (p.Asp1656=)
c.8862C>T (p.Asp2954=)
c.8853C>T (p.Asp2951=)
c.8868C>T (p.Asp2956=)
c.3165C>T (p.Asp1055=)
Xg.31444574G>CCA412655222DMDc.3837C>G (p.Asp1279Glu)
c.1611C>G (p.Asp537Glu)
n.2456C>G
n.2483C>G
c.846C>G (p.Asp282Glu)
c.8991C>G (p.Asp2997Glu)
c.4959C>G (p.Asp1653Glu)
n.2652C>G
c.804C>G (p.Asp268Glu)
c.2079C>G (p.Asp693Glu)
c.8979C>G (p.Asp2993Glu)
c.8976C>G (p.Asp2992Glu)
c.8988C>G (p.Asp2996Glu)
c.8967C>G (p.Asp2989Glu)
c.8622C>G (p.Asp2874Glu)
c.4968C>G (p.Asp1656Glu)
c.8862C>G (p.Asp2954Glu)
c.8853C>G (p.Asp2951Glu)
c.8868C>G (p.Asp2956Glu)
c.3165C>G (p.Asp1055Glu)
Xg.31444574G>TCA412655223DMDc.3837C>A (p.Asp1279Glu)
c.1611C>A (p.Asp537Glu)
n.2456C>A
n.2483C>A
c.846C>A (p.Asp282Glu)
c.8991C>A (p.Asp2997Glu)
c.4959C>A (p.Asp1653Glu)
n.2652C>A
c.804C>A (p.Asp268Glu)
c.2079C>A (p.Asp693Glu)
c.8979C>A (p.Asp2993Glu)
c.8976C>A (p.Asp2992Glu)
c.8988C>A (p.Asp2996Glu)
c.8967C>A (p.Asp2989Glu)
c.8622C>A (p.Asp2874Glu)
c.4968C>A (p.Asp1656Glu)
c.8862C>A (p.Asp2954Glu)
c.8853C>A (p.Asp2951Glu)
c.8868C>A (p.Asp2956Glu)
c.3165C>A (p.Asp1055Glu)
Xg.31444575T>ACA412655224DMDc.3836A>T (p.Asp1279Val)
c.1610A>T (p.Asp537Val)
n.2455A>T
n.2482A>T
c.845A>T (p.Asp282Val)
c.8990A>T (p.Asp2997Val)
c.4958A>T (p.Asp1653Val)
n.2651A>T
c.803A>T (p.Asp268Val)
c.2078A>T (p.Asp693Val)
c.8978A>T (p.Asp2993Val)
c.8975A>T (p.Asp2992Val)
c.8987A>T (p.Asp2996Val)
c.8966A>T (p.Asp2989Val)
c.8621A>T (p.Asp2874Val)
c.4967A>T (p.Asp1656Val)
c.8861A>T (p.Asp2954Val)
c.8852A>T (p.Asp2951Val)
c.8867A>T (p.Asp2956Val)
c.3164A>T (p.Asp1055Val)
Xg.31444575T>CCA412655225DMDc.3836A>G (p.Asp1279Gly)
c.1610A>G (p.Asp537Gly)
n.2455A>G
n.2482A>G
c.845A>G (p.Asp282Gly)
c.8990A>G (p.Asp2997Gly)
c.4958A>G (p.Asp1653Gly)
n.2651A>G
c.803A>G (p.Asp268Gly)
c.2078A>G (p.Asp693Gly)
c.8978A>G (p.Asp2993Gly)
c.8975A>G (p.Asp2992Gly)
c.8987A>G (p.Asp2996Gly)
c.8966A>G (p.Asp2989Gly)
c.8621A>G (p.Asp2874Gly)
c.4967A>G (p.Asp1656Gly)
c.8861A>G (p.Asp2954Gly)
c.8852A>G (p.Asp2951Gly)
c.8867A>G (p.Asp2956Gly)
c.3164A>G (p.Asp1055Gly)
 gnomAD v4
Xg.31444575T>GCA412655226DMDc.3836A>C (p.Asp1279Ala)
c.1610A>C (p.Asp537Ala)
n.2455A>C
n.2482A>C
c.845A>C (p.Asp282Ala)
c.8990A>C (p.Asp2997Ala)
c.4958A>C (p.Asp1653Ala)
n.2651A>C
c.803A>C (p.Asp268Ala)
c.2078A>C (p.Asp693Ala)
c.8978A>C (p.Asp2993Ala)
c.8975A>C (p.Asp2992Ala)
c.8987A>C (p.Asp2996Ala)
c.8966A>C (p.Asp2989Ala)
c.8621A>C (p.Asp2874Ala)
c.4967A>C (p.Asp1656Ala)
c.8861A>C (p.Asp2954Ala)
c.8852A>C (p.Asp2951Ala)
c.8867A>C (p.Asp2956Ala)
c.3164A>C (p.Asp1055Ala)
Xg.31444576C>ACA412655227DMDc.3835G>T (p.Asp1279Tyr)
c.1609G>T (p.Asp537Tyr)
n.2454G>T
n.2481G>T
c.844G>T (p.Asp282Tyr)
c.8989G>T (p.Asp2997Tyr)
c.4957G>T (p.Asp1653Tyr)
n.2650G>T
c.802G>T (p.Asp268Tyr)
c.2077G>T (p.Asp693Tyr)
c.8977G>T (p.Asp2993Tyr)
c.8974G>T (p.Asp2992Tyr)
c.8986G>T (p.Asp2996Tyr)
c.8965G>T (p.Asp2989Tyr)
c.8620G>T (p.Asp2874Tyr)
c.4966G>T (p.Asp1656Tyr)
c.8860G>T (p.Asp2954Tyr)
c.8851G>T (p.Asp2951Tyr)
c.8866G>T (p.Asp2956Tyr)
c.3163G>T (p.Asp1055Tyr)
 gnomAD v4
Xg.31444576C=CA2422434062DMDc.3835G= (p.Asp1279=)
c.1609G= (p.Asp537=)
n.2454G=
n.2481G=
c.844G= (p.Asp282=)
c.8989G= (p.Asp2997=)
c.4957G= (p.Asp1653=)
n.2650G=
c.802G= (p.Asp268=)
c.2077G= (p.Asp693=)
c.8977G= (p.Asp2993=)
c.8974G= (p.Asp2992=)
c.8986G= (p.Asp2996=)
c.8965G= (p.Asp2989=)
c.8620G= (p.Asp2874=)
c.4966G= (p.Asp1656=)
c.8860G= (p.Asp2954=)
c.8851G= (p.Asp2951=)
c.8866G= (p.Asp2956=)
c.3163G= (p.Asp1055=)
Xg.31444576C>GCA412655228DMDc.3835G>C (p.Asp1279His)
c.1609G>C (p.Asp537His)
n.2454G>C
n.2481G>C
c.844G>C (p.Asp282His)
c.8989G>C (p.Asp2997His)
c.4957G>C (p.Asp1653His)
n.2650G>C
c.802G>C (p.Asp268His)
c.2077G>C (p.Asp693His)
c.8977G>C (p.Asp2993His)
c.8974G>C (p.Asp2992His)
c.8986G>C (p.Asp2996His)
c.8965G>C (p.Asp2989His)
c.8620G>C (p.Asp2874His)
c.4966G>C (p.Asp1656His)
c.8860G>C (p.Asp2954His)
c.8851G>C (p.Asp2951His)
c.8866G>C (p.Asp2956His)
c.3163G>C (p.Asp1055His)
 dbSNP
Xg.31444576C>TCA412655229DMDc.3835G>A (p.Asp1279Asn)
c.1609G>A (p.Asp537Asn)
n.2454G>A
n.2481G>A
c.844G>A (p.Asp282Asn)
c.8989G>A (p.Asp2997Asn)
c.4957G>A (p.Asp1653Asn)
n.2650G>A
c.802G>A (p.Asp268Asn)
c.2077G>A (p.Asp693Asn)
c.8977G>A (p.Asp2993Asn)
c.8974G>A (p.Asp2992Asn)
c.8986G>A (p.Asp2996Asn)
c.8965G>A (p.Asp2989Asn)
c.8620G>A (p.Asp2874Asn)
c.4966G>A (p.Asp1656Asn)
c.8860G>A (p.Asp2954Asn)
c.8851G>A (p.Asp2951Asn)
c.8866G>A (p.Asp2956Asn)
c.3163G>A (p.Asp1055Asn)
Xg.31444577A>CCA412655231DMDc.3834T>G (p.Asn1278Lys)
c.1608T>G (p.Asn536Lys)
n.2453T>G
n.2480T>G
c.843T>G (p.Asn281Lys)
c.8988T>G (p.Asn2996Lys)
c.4956T>G (p.Asn1652Lys)
n.2649T>G
c.801T>G (p.Asn267Lys)
c.2076T>G (p.Asn692Lys)
c.8976T>G (p.Asn2992Lys)
c.8973T>G (p.Asn2991Lys)
c.8985T>G (p.Asn2995Lys)
c.8964T>G (p.Asn2988Lys)
c.8619T>G (p.Asn2873Lys)
c.4965T>G (p.Asn1655Lys)
c.8859T>G (p.Asn2953Lys)
c.8850T>G (p.Asn2950Lys)
c.8865T>G (p.Asn2955Lys)
c.3162T>G (p.Asn1054Lys)
Xg.31444577A>GCA515858271DMDc.3834T>C (p.Asn1278=)
c.1608T>C (p.Asn536=)
n.2453T>C
n.2480T>C
c.843T>C (p.Asn281=)
c.8988T>C (p.Asn2996=)
c.4956T>C (p.Asn1652=)
n.2649T>C
c.801T>C (p.Asn267=)
c.2076T>C (p.Asn692=)
c.8976T>C (p.Asn2992=)
c.8973T>C (p.Asn2991=)
c.8985T>C (p.Asn2995=)
c.8964T>C (p.Asn2988=)
c.8619T>C (p.Asn2873=)
c.4965T>C (p.Asn1655=)
c.8859T>C (p.Asn2953=)
c.8850T>C (p.Asn2950=)
c.8865T>C (p.Asn2955=)
c.3162T>C (p.Asn1054=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444577A>TCA412655230DMDc.3834T>A (p.Asn1278Lys)
c.1608T>A (p.Asn536Lys)
n.2453T>A
n.2480T>A
c.843T>A (p.Asn281Lys)
c.8988T>A (p.Asn2996Lys)
c.4956T>A (p.Asn1652Lys)
n.2649T>A
c.801T>A (p.Asn267Lys)
c.2076T>A (p.Asn692Lys)
c.8976T>A (p.Asn2992Lys)
c.8973T>A (p.Asn2991Lys)
c.8985T>A (p.Asn2995Lys)
c.8964T>A (p.Asn2988Lys)
c.8619T>A (p.Asn2873Lys)
c.4965T>A (p.Asn1655Lys)
c.8859T>A (p.Asn2953Lys)
c.8850T>A (p.Asn2950Lys)
c.8865T>A (p.Asn2955Lys)
c.3162T>A (p.Asn1054Lys)
Xg.31444578T>ACA412655232DMDc.3833A>T (p.Asn1278Ile)
c.1607A>T (p.Asn536Ile)
n.2452A>T
n.2479A>T
c.842A>T (p.Asn281Ile)
c.8987A>T (p.Asn2996Ile)
c.4955A>T (p.Asn1652Ile)
n.2648A>T
c.800A>T (p.Asn267Ile)
c.2075A>T (p.Asn692Ile)
c.8975A>T (p.Asn2992Ile)
c.8972A>T (p.Asn2991Ile)
c.8984A>T (p.Asn2995Ile)
c.8963A>T (p.Asn2988Ile)
c.8618A>T (p.Asn2873Ile)
c.4964A>T (p.Asn1655Ile)
c.8858A>T (p.Asn2953Ile)
c.8849A>T (p.Asn2950Ile)
c.8864A>T (p.Asn2955Ile)
c.3161A>T (p.Asn1054Ile)
Xg.31444578T>CCA412655233DMDc.3833A>G (p.Asn1278Ser)
c.1607A>G (p.Asn536Ser)
n.2452A>G
n.2479A>G
c.842A>G (p.Asn281Ser)
c.8987A>G (p.Asn2996Ser)
c.4955A>G (p.Asn1652Ser)
n.2648A>G
c.800A>G (p.Asn267Ser)
c.2075A>G (p.Asn692Ser)
c.8975A>G (p.Asn2992Ser)
c.8972A>G (p.Asn2991Ser)
c.8984A>G (p.Asn2995Ser)
c.8963A>G (p.Asn2988Ser)
c.8618A>G (p.Asn2873Ser)
c.4964A>G (p.Asn1655Ser)
c.8858A>G (p.Asn2953Ser)
c.8849A>G (p.Asn2950Ser)
c.8864A>G (p.Asn2955Ser)
c.3161A>G (p.Asn1054Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444578T>GCA412655234DMDc.3833A>C (p.Asn1278Thr)
c.1607A>C (p.Asn536Thr)
n.2452A>C
n.2479A>C
c.842A>C (p.Asn281Thr)
c.8987A>C (p.Asn2996Thr)
c.4955A>C (p.Asn1652Thr)
n.2648A>C
c.800A>C (p.Asn267Thr)
c.2075A>C (p.Asn692Thr)
c.8975A>C (p.Asn2992Thr)
c.8972A>C (p.Asn2991Thr)
c.8984A>C (p.Asn2995Thr)
c.8963A>C (p.Asn2988Thr)
c.8618A>C (p.Asn2873Thr)
c.4964A>C (p.Asn1655Thr)
c.8858A>C (p.Asn2953Thr)
c.8849A>C (p.Asn2950Thr)
c.8864A>C (p.Asn2955Thr)
c.3161A>C (p.Asn1054Thr)
Xg.31444578T=CA2422434063DMDc.3833A= (p.Asn1278=)
c.1607A= (p.Asn536=)
n.2452A=
n.2479A=
c.842A= (p.Asn281=)
c.8987A= (p.Asn2996=)
c.4955A= (p.Asn1652=)
n.2648A=
c.800A= (p.Asn267=)
c.2075A= (p.Asn692=)
c.8975A= (p.Asn2992=)
c.8972A= (p.Asn2991=)
c.8984A= (p.Asn2995=)
c.8963A= (p.Asn2988=)
c.8618A= (p.Asn2873=)
c.4964A= (p.Asn1655=)
c.8858A= (p.Asn2953=)
c.8849A= (p.Asn2950=)
c.8864A= (p.Asn2955=)
c.3161A= (p.Asn1054=)
Xg.31444579T>ACA412655235DMDc.3832A>T (p.Asn1278Tyr)
c.1606A>T (p.Asn536Tyr)
n.2451A>T
n.2478A>T
c.841A>T (p.Asn281Tyr)
c.8986A>T (p.Asn2996Tyr)
c.4954A>T (p.Asn1652Tyr)
n.2647A>T
c.799A>T (p.Asn267Tyr)
c.2074A>T (p.Asn692Tyr)
c.8974A>T (p.Asn2992Tyr)
c.8971A>T (p.Asn2991Tyr)
c.8983A>T (p.Asn2995Tyr)
c.8962A>T (p.Asn2988Tyr)
c.8617A>T (p.Asn2873Tyr)
c.4963A>T (p.Asn1655Tyr)
c.8857A>T (p.Asn2953Tyr)
c.8848A>T (p.Asn2950Tyr)
c.8863A>T (p.Asn2955Tyr)
c.3160A>T (p.Asn1054Tyr)
Xg.31444579T>CCA412655236DMDc.3832A>G (p.Asn1278Asp)
c.1606A>G (p.Asn536Asp)
n.2451A>G
n.2478A>G
c.841A>G (p.Asn281Asp)
c.8986A>G (p.Asn2996Asp)
c.4954A>G (p.Asn1652Asp)
n.2647A>G
c.799A>G (p.Asn267Asp)
c.2074A>G (p.Asn692Asp)
c.8974A>G (p.Asn2992Asp)
c.8971A>G (p.Asn2991Asp)
c.8983A>G (p.Asn2995Asp)
c.8962A>G (p.Asn2988Asp)
c.8617A>G (p.Asn2873Asp)
c.4963A>G (p.Asn1655Asp)
c.8857A>G (p.Asn2953Asp)
c.8848A>G (p.Asn2950Asp)
c.8863A>G (p.Asn2955Asp)
c.3160A>G (p.Asn1054Asp)
 gnomAD v4
Xg.31444579T>GCA412655237DMDc.3832A>C (p.Asn1278His)
c.1606A>C (p.Asn536His)
n.2451A>C
n.2478A>C
c.841A>C (p.Asn281His)
c.8986A>C (p.Asn2996His)
c.4954A>C (p.Asn1652His)
n.2647A>C
c.799A>C (p.Asn267His)
c.2074A>C (p.Asn692His)
c.8974A>C (p.Asn2992His)
c.8971A>C (p.Asn2991His)
c.8983A>C (p.Asn2995His)
c.8962A>C (p.Asn2988His)
c.8617A>C (p.Asn2873His)
c.4963A>C (p.Asn1655His)
c.8857A>C (p.Asn2953His)
c.8848A>C (p.Asn2950His)
c.8863A>C (p.Asn2955His)
c.3160A>C (p.Asn1054His)
Xg.31444580G>ACA515858275DMDc.3831C>T (p.Val1277=)
c.1605C>T (p.Val535=)
n.2450C>T
n.2477C>T
c.840C>T (p.Val280=)
c.8985C>T (p.Val2995=)
c.4953C>T (p.Val1651=)
n.2646C>T
c.798C>T (p.Val266=)
c.2073C>T (p.Val691=)
c.8973C>T (p.Val2991=)
c.8970C>T (p.Val2990=)
c.8982C>T (p.Val2994=)
c.8961C>T (p.Val2987=)
c.8616C>T (p.Val2872=)
c.4962C>T (p.Val1654=)
c.8856C>T (p.Val2952=)
c.8847C>T (p.Val2949=)
c.8862C>T (p.Val2954=)
c.3159C>T (p.Val1053=)
 dbSNP gnomAD v2 gnomAD v4
Xg.31444580G>CCA515858276DMDc.3831C>G (p.Val1277=)
c.1605C>G (p.Val535=)
n.2450C>G
n.2477C>G
c.840C>G (p.Val280=)
c.8985C>G (p.Val2995=)
c.4953C>G (p.Val1651=)
n.2646C>G
c.798C>G (p.Val266=)
c.2073C>G (p.Val691=)
c.8973C>G (p.Val2991=)
c.8970C>G (p.Val2990=)
c.8982C>G (p.Val2994=)
c.8961C>G (p.Val2987=)
c.8616C>G (p.Val2872=)
c.4962C>G (p.Val1654=)
c.8856C>G (p.Val2952=)
c.8847C>G (p.Val2949=)
c.8862C>G (p.Val2954=)
c.3159C>G (p.Val1053=)
Xg.31444580G=CA2422434064DMDc.3831C= (p.Val1277=)
c.1605C= (p.Val535=)
n.2450C=
n.2477C=
c.840C= (p.Val280=)
c.8985C= (p.Val2995=)
c.4953C= (p.Val1651=)
n.2646C=
c.798C= (p.Val266=)
c.2073C= (p.Val691=)
c.8973C= (p.Val2991=)
c.8970C= (p.Val2990=)
c.8982C= (p.Val2994=)
c.8961C= (p.Val2987=)
c.8616C= (p.Val2872=)
c.4962C= (p.Val1654=)
c.8856C= (p.Val2952=)
c.8847C= (p.Val2949=)
c.8862C= (p.Val2954=)
c.3159C= (p.Val1053=)
Xg.31444580G>TCA515858277DMDc.3831C>A (p.Val1277=)
c.1605C>A (p.Val535=)
n.2450C>A
n.2477C>A
c.840C>A (p.Val280=)
c.8985C>A (p.Val2995=)
c.4953C>A (p.Val1651=)
n.2646C>A
c.798C>A (p.Val266=)
c.2073C>A (p.Val691=)
c.8973C>A (p.Val2991=)
c.8970C>A (p.Val2990=)
c.8982C>A (p.Val2994=)
c.8961C>A (p.Val2987=)
c.8616C>A (p.Val2872=)
c.4962C>A (p.Val1654=)
c.8856C>A (p.Val2952=)
c.8847C>A (p.Val2949=)
c.8862C>A (p.Val2954=)
c.3159C>A (p.Val1053=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444581A>CCA412655240DMDc.3830T>G (p.Val1277Gly)
c.1604T>G (p.Val535Gly)
n.2449T>G
n.2476T>G
c.839T>G (p.Val280Gly)
c.8984T>G (p.Val2995Gly)
c.4952T>G (p.Val1651Gly)
n.2645T>G
c.797T>G (p.Val266Gly)
c.2072T>G (p.Val691Gly)
c.8972T>G (p.Val2991Gly)
c.8969T>G (p.Val2990Gly)
c.8981T>G (p.Val2994Gly)
c.8960T>G (p.Val2987Gly)
c.8615T>G (p.Val2872Gly)
c.4961T>G (p.Val1654Gly)
c.8855T>G (p.Val2952Gly)
c.8846T>G (p.Val2949Gly)
c.8861T>G (p.Val2954Gly)
c.3158T>G (p.Val1053Gly)
Xg.31444581A>GCA412655238DMDc.3830T>C (p.Val1277Ala)
c.1604T>C (p.Val535Ala)
n.2449T>C
n.2476T>C
c.839T>C (p.Val280Ala)
c.8984T>C (p.Val2995Ala)
c.4952T>C (p.Val1651Ala)
n.2645T>C
c.797T>C (p.Val266Ala)
c.2072T>C (p.Val691Ala)
c.8972T>C (p.Val2991Ala)
c.8969T>C (p.Val2990Ala)
c.8981T>C (p.Val2994Ala)
c.8960T>C (p.Val2987Ala)
c.8615T>C (p.Val2872Ala)
c.4961T>C (p.Val1654Ala)
c.8855T>C (p.Val2952Ala)
c.8846T>C (p.Val2949Ala)
c.8861T>C (p.Val2954Ala)
c.3158T>C (p.Val1053Ala)
 ClinVar gnomAD v4
Xg.31444581A>TCA412655239DMDc.3830T>A (p.Val1277Asp)
c.1604T>A (p.Val535Asp)
n.2449T>A
n.2476T>A
c.839T>A (p.Val280Asp)
c.8984T>A (p.Val2995Asp)
c.4952T>A (p.Val1651Asp)
n.2645T>A
c.797T>A (p.Val266Asp)
c.2072T>A (p.Val691Asp)
c.8972T>A (p.Val2991Asp)
c.8969T>A (p.Val2990Asp)
c.8981T>A (p.Val2994Asp)
c.8960T>A (p.Val2987Asp)
c.8615T>A (p.Val2872Asp)
c.4961T>A (p.Val1654Asp)
c.8855T>A (p.Val2952Asp)
c.8846T>A (p.Val2949Asp)
c.8861T>A (p.Val2954Asp)
c.3158T>A (p.Val1053Asp)
Xg.31444582C>ACA412655241DMDc.3829G>T (p.Val1277Phe)
c.1603G>T (p.Val535Phe)
n.2448G>T
n.2475G>T
c.838G>T (p.Val280Phe)
c.8983G>T (p.Val2995Phe)
c.4951G>T (p.Val1651Phe)
n.2644G>T
c.796G>T (p.Val266Phe)
c.2071G>T (p.Val691Phe)
c.8971G>T (p.Val2991Phe)
c.8968G>T (p.Val2990Phe)
c.8980G>T (p.Val2994Phe)
c.8959G>T (p.Val2987Phe)
c.8614G>T (p.Val2872Phe)
c.4960G>T (p.Val1654Phe)
c.8854G>T (p.Val2952Phe)
c.8845G>T (p.Val2949Phe)
c.8860G>T (p.Val2954Phe)
c.3157G>T (p.Val1053Phe)
Xg.31444582C=CA2422434065DMDc.3829G= (p.Val1277=)
c.1603G= (p.Val535=)
n.2448G=
n.2475G=
c.838G= (p.Val280=)
c.8983G= (p.Val2995=)
c.4951G= (p.Val1651=)
n.2644G=
c.796G= (p.Val266=)
c.2071G= (p.Val691=)
c.8971G= (p.Val2991=)
c.8968G= (p.Val2990=)
c.8980G= (p.Val2994=)
c.8959G= (p.Val2987=)
c.8614G= (p.Val2872=)
c.4960G= (p.Val1654=)
c.8854G= (p.Val2952=)
c.8845G= (p.Val2949=)
c.8860G= (p.Val2954=)
c.3157G= (p.Val1053=)
Xg.31444582C>GCA412655242DMDc.3829G>C (p.Val1277Leu)
c.1603G>C (p.Val535Leu)
n.2448G>C
n.2475G>C
c.838G>C (p.Val280Leu)
c.8983G>C (p.Val2995Leu)
c.4951G>C (p.Val1651Leu)
n.2644G>C
c.796G>C (p.Val266Leu)
c.2071G>C (p.Val691Leu)
c.8971G>C (p.Val2991Leu)
c.8968G>C (p.Val2990Leu)
c.8980G>C (p.Val2994Leu)
c.8959G>C (p.Val2987Leu)
c.8614G>C (p.Val2872Leu)
c.4960G>C (p.Val1654Leu)
c.8854G>C (p.Val2952Leu)
c.8845G>C (p.Val2949Leu)
c.8860G>C (p.Val2954Leu)
c.3157G>C (p.Val1053Leu)
Xg.31444582C>TCA10377941DMDc.3829G>A (p.Val1277Ile)
c.1603G>A (p.Val535Ile)
n.2448G>A
n.2475G>A
c.838G>A (p.Val280Ile)
c.8983G>A (p.Val2995Ile)
c.4951G>A (p.Val1651Ile)
n.2644G>A
c.796G>A (p.Val266Ile)
c.2071G>A (p.Val691Ile)
c.8971G>A (p.Val2991Ile)
c.8968G>A (p.Val2990Ile)
c.8980G>A (p.Val2994Ile)
c.8959G>A (p.Val2987Ile)
c.8614G>A (p.Val2872Ile)
c.4960G>A (p.Val1654Ile)
c.8854G>A (p.Val2952Ile)
c.8845G>A (p.Val2949Ile)
c.8860G>A (p.Val2954Ile)
c.3157G>A (p.Val1053Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.31444583G>ACA515858279DMDc.3828C>T (p.His1276=)
c.1602C>T (p.His534=)
n.2447C>T
n.2474C>T
c.837C>T (p.His279=)
c.8982C>T (p.His2994=)
c.4950C>T (p.His1650=)
n.2643C>T
c.795C>T (p.His265=)
c.2070C>T (p.His690=)
c.8970C>T (p.His2990=)
c.8967C>T (p.His2989=)
c.8979C>T (p.His2993=)
c.8958C>T (p.His2986=)
c.8613C>T (p.His2871=)
c.4959C>T (p.His1653=)
c.8853C>T (p.His2951=)
c.8844C>T (p.His2948=)
c.8859C>T (p.His2953=)
c.3156C>T (p.His1052=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444583G>CCA412655243DMDc.3828C>G (p.His1276Gln)
c.1602C>G (p.His534Gln)
n.2447C>G
n.2474C>G
c.837C>G (p.His279Gln)
c.8982C>G (p.His2994Gln)
c.4950C>G (p.His1650Gln)
n.2643C>G
c.795C>G (p.His265Gln)
c.2070C>G (p.His690Gln)
c.8970C>G (p.His2990Gln)
c.8967C>G (p.His2989Gln)
c.8979C>G (p.His2993Gln)
c.8958C>G (p.His2986Gln)
c.8613C>G (p.His2871Gln)
c.4959C>G (p.His1653Gln)
c.8853C>G (p.His2951Gln)
c.8844C>G (p.His2948Gln)
c.8859C>G (p.His2953Gln)
c.3156C>G (p.His1052Gln)
Xg.31444583G=CA2422434066DMDc.3828C= (p.His1276=)
c.1602C= (p.His534=)
n.2447C=
n.2474C=
c.837C= (p.His279=)
c.8982C= (p.His2994=)
c.4950C= (p.His1650=)
n.2643C=
c.795C= (p.His265=)
c.2070C= (p.His690=)
c.8970C= (p.His2990=)
c.8967C= (p.His2989=)
c.8979C= (p.His2993=)
c.8958C= (p.His2986=)
c.8613C= (p.His2871=)
c.4959C= (p.His1653=)
c.8853C= (p.His2951=)
c.8844C= (p.His2948=)
c.8859C= (p.His2953=)
c.3156C= (p.His1052=)
Xg.31444583G>TCA412655244DMDc.3828C>A (p.His1276Gln)
c.1602C>A (p.His534Gln)
n.2447C>A
n.2474C>A
c.837C>A (p.His279Gln)
c.8982C>A (p.His2994Gln)
c.4950C>A (p.His1650Gln)
n.2643C>A
c.795C>A (p.His265Gln)
c.2070C>A (p.His690Gln)
c.8970C>A (p.His2990Gln)
c.8967C>A (p.His2989Gln)
c.8979C>A (p.His2993Gln)
c.8958C>A (p.His2986Gln)
c.8613C>A (p.His2871Gln)
c.4959C>A (p.His1653Gln)
c.8853C>A (p.His2951Gln)
c.8844C>A (p.His2948Gln)
c.8859C>A (p.His2953Gln)
c.3156C>A (p.His1052Gln)
Xg.31444584T>ACA412655245DMDc.3827A>T (p.His1276Leu)
c.1601A>T (p.His534Leu)
n.2446A>T
n.2473A>T
c.836A>T (p.His279Leu)
c.8981A>T (p.His2994Leu)
c.4949A>T (p.His1650Leu)
n.2642A>T
c.794A>T (p.His265Leu)
c.2069A>T (p.His690Leu)
c.8969A>T (p.His2990Leu)
c.8966A>T (p.His2989Leu)
c.8978A>T (p.His2993Leu)
c.8957A>T (p.His2986Leu)
c.8612A>T (p.His2871Leu)
c.4958A>T (p.His1653Leu)
c.8852A>T (p.His2951Leu)
c.8843A>T (p.His2948Leu)
c.8858A>T (p.His2953Leu)
c.3155A>T (p.His1052Leu)
Xg.31444584T>CCA412655247DMDc.3827A>G (p.His1276Arg)
c.1601A>G (p.His534Arg)
n.2446A>G
n.2473A>G
c.836A>G (p.His279Arg)
c.8981A>G (p.His2994Arg)
c.4949A>G (p.His1650Arg)
n.2642A>G
c.794A>G (p.His265Arg)
c.2069A>G (p.His690Arg)
c.8969A>G (p.His2990Arg)
c.8966A>G (p.His2989Arg)
c.8978A>G (p.His2993Arg)
c.8957A>G (p.His2986Arg)
c.8612A>G (p.His2871Arg)
c.4958A>G (p.His1653Arg)
c.8852A>G (p.His2951Arg)
c.8843A>G (p.His2948Arg)
c.8858A>G (p.His2953Arg)
c.3155A>G (p.His1052Arg)
Xg.31444584T>GCA412655246DMDc.3827A>C (p.His1276Pro)
c.1601A>C (p.His534Pro)
n.2446A>C
n.2473A>C
c.836A>C (p.His279Pro)
c.8981A>C (p.His2994Pro)
c.4949A>C (p.His1650Pro)
n.2642A>C
c.794A>C (p.His265Pro)
c.2069A>C (p.His690Pro)
c.8969A>C (p.His2990Pro)
c.8966A>C (p.His2989Pro)
c.8978A>C (p.His2993Pro)
c.8957A>C (p.His2986Pro)
c.8612A>C (p.His2871Pro)
c.4958A>C (p.His1653Pro)
c.8852A>C (p.His2951Pro)
c.8843A>C (p.His2948Pro)
c.8858A>C (p.His2953Pro)
c.3155A>C (p.His1052Pro)
Xg.31444585G>ACA412655248DMDc.3826C>T (p.His1276Tyr)
c.1600C>T (p.His534Tyr)
n.2445C>T
n.2472C>T
c.835C>T (p.His279Tyr)
c.8980C>T (p.His2994Tyr)
c.4948C>T (p.His1650Tyr)
n.2641C>T
c.793C>T (p.His265Tyr)
c.2068C>T (p.His690Tyr)
c.8968C>T (p.His2990Tyr)
c.8965C>T (p.His2989Tyr)
c.8977C>T (p.His2993Tyr)
c.8956C>T (p.His2986Tyr)
c.8611C>T (p.His2871Tyr)
c.4957C>T (p.His1653Tyr)
c.8851C>T (p.His2951Tyr)
c.8842C>T (p.His2948Tyr)
c.8857C>T (p.His2953Tyr)
c.3154C>T (p.His1052Tyr)
Xg.31444585G>CCA412655249DMDc.3826C>G (p.His1276Asp)
c.1600C>G (p.His534Asp)
n.2445C>G
n.2472C>G
c.835C>G (p.His279Asp)
c.8980C>G (p.His2994Asp)
c.4948C>G (p.His1650Asp)
n.2641C>G
c.793C>G (p.His265Asp)
c.2068C>G (p.His690Asp)
c.8968C>G (p.His2990Asp)
c.8965C>G (p.His2989Asp)
c.8977C>G (p.His2993Asp)
c.8956C>G (p.His2986Asp)
c.8611C>G (p.His2871Asp)
c.4957C>G (p.His1653Asp)
c.8851C>G (p.His2951Asp)
c.8842C>G (p.His2948Asp)
c.8857C>G (p.His2953Asp)
c.3154C>G (p.His1052Asp)
Xg.31444585G>TCA412655250DMDc.3826C>A (p.His1276Asn)
c.1600C>A (p.His534Asn)
n.2445C>A
n.2472C>A
c.835C>A (p.His279Asn)
c.8980C>A (p.His2994Asn)
c.4948C>A (p.His1650Asn)
n.2641C>A
c.793C>A (p.His265Asn)
c.2068C>A (p.His690Asn)
c.8968C>A (p.His2990Asn)
c.8965C>A (p.His2989Asn)
c.8977C>A (p.His2993Asn)
c.8956C>A (p.His2986Asn)
c.8611C>A (p.His2871Asn)
c.4957C>A (p.His1653Asn)
c.8851C>A (p.His2951Asn)
c.8842C>A (p.His2948Asn)
c.8857C>A (p.His2953Asn)
c.3154C>A (p.His1052Asn)
Xg.31444586G>ACA515858282DMDc.3825C>T (p.Ser1275=)
c.1599C>T (p.Ser533=)
n.2444C>T
n.2471C>T
c.834C>T (p.Ser278=)
c.8979C>T (p.Ser2993=)
c.4947C>T (p.Ser1649=)
n.2640C>T
c.792C>T (p.Ser264=)
c.2067C>T (p.Ser689=)
c.8967C>T (p.Ser2989=)
c.8964C>T (p.Ser2988=)
c.8976C>T (p.Ser2992=)
c.8955C>T (p.Ser2985=)
c.8610C>T (p.Ser2870=)
c.4956C>T (p.Ser1652=)
c.8850C>T (p.Ser2950=)
c.8841C>T (p.Ser2947=)
c.8856C>T (p.Ser2952=)
c.3153C>T (p.Ser1051=)
Xg.31444586G>CCA412655251DMDc.3825C>G (p.Ser1275Arg)
c.1599C>G (p.Ser533Arg)
n.2444C>G
n.2471C>G
c.834C>G (p.Ser278Arg)
c.8979C>G (p.Ser2993Arg)
c.4947C>G (p.Ser1649Arg)
n.2640C>G
c.792C>G (p.Ser264Arg)
c.2067C>G (p.Ser689Arg)
c.8967C>G (p.Ser2989Arg)
c.8964C>G (p.Ser2988Arg)
c.8976C>G (p.Ser2992Arg)
c.8955C>G (p.Ser2985Arg)
c.8610C>G (p.Ser2870Arg)
c.4956C>G (p.Ser1652Arg)
c.8850C>G (p.Ser2950Arg)
c.8841C>G (p.Ser2947Arg)
c.8856C>G (p.Ser2952Arg)
c.3153C>G (p.Ser1051Arg)
Xg.31444586G>TCA412655252DMDc.3825C>A (p.Ser1275Arg)
c.1599C>A (p.Ser533Arg)
n.2444C>A
n.2471C>A
c.834C>A (p.Ser278Arg)
c.8979C>A (p.Ser2993Arg)
c.4947C>A (p.Ser1649Arg)
n.2640C>A
c.792C>A (p.Ser264Arg)
c.2067C>A (p.Ser689Arg)
c.8967C>A (p.Ser2989Arg)
c.8964C>A (p.Ser2988Arg)
c.8976C>A (p.Ser2992Arg)
c.8955C>A (p.Ser2985Arg)
c.8610C>A (p.Ser2870Arg)
c.4956C>A (p.Ser1652Arg)
c.8850C>A (p.Ser2950Arg)
c.8841C>A (p.Ser2947Arg)
c.8856C>A (p.Ser2952Arg)
c.3153C>A (p.Ser1051Arg)
Xg.31444587C>ACA412655253DMDc.3824G>T (p.Ser1275Ile)
c.1598G>T (p.Ser533Ile)
n.2443G>T
n.2470G>T
c.833G>T (p.Ser278Ile)
c.8978G>T (p.Ser2993Ile)
c.4946G>T (p.Ser1649Ile)
n.2639G>T
c.791G>T (p.Ser264Ile)
c.2066G>T (p.Ser689Ile)
c.8966G>T (p.Ser2989Ile)
c.8963G>T (p.Ser2988Ile)
c.8975G>T (p.Ser2992Ile)
c.8954G>T (p.Ser2985Ile)
c.8609G>T (p.Ser2870Ile)
c.4955G>T (p.Ser1652Ile)
c.8849G>T (p.Ser2950Ile)
c.8840G>T (p.Ser2947Ile)
c.8855G>T (p.Ser2952Ile)
c.3152G>T (p.Ser1051Ile)
Xg.31444587C>GCA412655254DMDc.3824G>C (p.Ser1275Thr)
c.1598G>C (p.Ser533Thr)
n.2443G>C
n.2470G>C
c.833G>C (p.Ser278Thr)
c.8978G>C (p.Ser2993Thr)
c.4946G>C (p.Ser1649Thr)
n.2639G>C
c.791G>C (p.Ser264Thr)
c.2066G>C (p.Ser689Thr)
c.8966G>C (p.Ser2989Thr)
c.8963G>C (p.Ser2988Thr)
c.8975G>C (p.Ser2992Thr)
c.8954G>C (p.Ser2985Thr)
c.8609G>C (p.Ser2870Thr)
c.4955G>C (p.Ser1652Thr)
c.8849G>C (p.Ser2950Thr)
c.8840G>C (p.Ser2947Thr)
c.8855G>C (p.Ser2952Thr)
c.3152G>C (p.Ser1051Thr)
Xg.31444587C>TCA412655255DMDc.3824G>A (p.Ser1275Asn)
c.1598G>A (p.Ser533Asn)
n.2443G>A
n.2470G>A
c.833G>A (p.Ser278Asn)
c.8978G>A (p.Ser2993Asn)
c.4946G>A (p.Ser1649Asn)
n.2639G>A
c.791G>A (p.Ser264Asn)
c.2066G>A (p.Ser689Asn)
c.8966G>A (p.Ser2989Asn)
c.8963G>A (p.Ser2988Asn)
c.8975G>A (p.Ser2992Asn)
c.8954G>A (p.Ser2985Asn)
c.8609G>A (p.Ser2870Asn)
c.4955G>A (p.Ser1652Asn)
c.8849G>A (p.Ser2950Asn)
c.8840G>A (p.Ser2947Asn)
c.8855G>A (p.Ser2952Asn)
c.3152G>A (p.Ser1051Asn)
 gnomAD v4
Xg.31444588T>ACA412655256DMDc.3823A>T (p.Ser1275Cys)
c.1597A>T (p.Ser533Cys)
n.2442A>T
n.2469A>T
c.832A>T (p.Ser278Cys)
c.8977A>T (p.Ser2993Cys)
c.4945A>T (p.Ser1649Cys)
n.2638A>T
c.790A>T (p.Ser264Cys)
c.2065A>T (p.Ser689Cys)
c.8965A>T (p.Ser2989Cys)
c.8962A>T (p.Ser2988Cys)
c.8974A>T (p.Ser2992Cys)
c.8953A>T (p.Ser2985Cys)
c.8608A>T (p.Ser2870Cys)
c.4954A>T (p.Ser1652Cys)
c.8848A>T (p.Ser2950Cys)
c.8839A>T (p.Ser2947Cys)
c.8854A>T (p.Ser2952Cys)
c.3151A>T (p.Ser1051Cys)
 gnomAD v4
Xg.31444588T>CCA412655257DMDc.3823A>G (p.Ser1275Gly)
c.1597A>G (p.Ser533Gly)
n.2442A>G
n.2469A>G
c.832A>G (p.Ser278Gly)
c.8977A>G (p.Ser2993Gly)
c.4945A>G (p.Ser1649Gly)
n.2638A>G
c.790A>G (p.Ser264Gly)
c.2065A>G (p.Ser689Gly)
c.8965A>G (p.Ser2989Gly)
c.8962A>G (p.Ser2988Gly)
c.8974A>G (p.Ser2992Gly)
c.8953A>G (p.Ser2985Gly)
c.8608A>G (p.Ser2870Gly)
c.4954A>G (p.Ser1652Gly)
c.8848A>G (p.Ser2950Gly)
c.8839A>G (p.Ser2947Gly)
c.8854A>G (p.Ser2952Gly)
c.3151A>G (p.Ser1051Gly)
Xg.31444588T>GCA412655258DMDc.3823A>C (p.Ser1275Arg)
c.1597A>C (p.Ser533Arg)
n.2442A>C
n.2469A>C
c.832A>C (p.Ser278Arg)
c.8977A>C (p.Ser2993Arg)
c.4945A>C (p.Ser1649Arg)
n.2638A>C
c.790A>C (p.Ser264Arg)
c.2065A>C (p.Ser689Arg)
c.8965A>C (p.Ser2989Arg)
c.8962A>C (p.Ser2988Arg)
c.8974A>C (p.Ser2992Arg)
c.8953A>C (p.Ser2985Arg)
c.8608A>C (p.Ser2870Arg)
c.4954A>C (p.Ser1652Arg)
c.8848A>C (p.Ser2950Arg)
c.8839A>C (p.Ser2947Arg)
c.8854A>C (p.Ser2952Arg)
c.3151A>C (p.Ser1051Arg)
Xg.31444589C>ACA515858284DMDc.3822G>T (p.Val1274=)
c.1596G>T (p.Val532=)
n.2441G>T
n.2468G>T
c.831G>T (p.Val277=)
c.8976G>T (p.Val2992=)
c.4944G>T (p.Val1648=)
n.2637G>T
c.789G>T (p.Val263=)
c.2064G>T (p.Val688=)
c.8964G>T (p.Val2988=)
c.8961G>T (p.Val2987=)
c.8973G>T (p.Val2991=)
c.8952G>T (p.Val2984=)
c.8607G>T (p.Val2869=)
c.4953G>T (p.Val1651=)
c.8847G>T (p.Val2949=)
c.8838G>T (p.Val2946=)
c.8853G>T (p.Val2951=)
c.3150G>T (p.Val1050=)
Xg.31444589C=CA2422434067DMDc.3822G= (p.Val1274=)
c.1596G= (p.Val532=)
n.2441G=
n.2468G=
c.831G= (p.Val277=)
c.8976G= (p.Val2992=)
c.4944G= (p.Val1648=)
n.2637G=
c.789G= (p.Val263=)
c.2064G= (p.Val688=)
c.8964G= (p.Val2988=)
c.8961G= (p.Val2987=)
c.8973G= (p.Val2991=)
c.8952G= (p.Val2984=)
c.8607G= (p.Val2869=)
c.4953G= (p.Val1651=)
c.8847G= (p.Val2949=)
c.8838G= (p.Val2946=)
c.8853G= (p.Val2951=)
c.3150G= (p.Val1050=)
Xg.31444589C>GCA515858285DMDc.3822G>C (p.Val1274=)
c.1596G>C (p.Val532=)
n.2441G>C
n.2468G>C
c.831G>C (p.Val277=)
c.8976G>C (p.Val2992=)
c.4944G>C (p.Val1648=)
n.2637G>C
c.789G>C (p.Val263=)
c.2064G>C (p.Val688=)
c.8964G>C (p.Val2988=)
c.8961G>C (p.Val2987=)
c.8973G>C (p.Val2991=)
c.8952G>C (p.Val2984=)
c.8607G>C (p.Val2869=)
c.4953G>C (p.Val1651=)
c.8847G>C (p.Val2949=)
c.8838G>C (p.Val2946=)
c.8853G>C (p.Val2951=)
c.3150G>C (p.Val1050=)
Xg.31444589C>TCA328429791DMDc.3822G>A (p.Val1274=)
c.1596G>A (p.Val532=)
n.2441G>A
n.2468G>A
c.831G>A (p.Val277=)
c.8976G>A (p.Val2992=)
c.4944G>A (p.Val1648=)
n.2637G>A
c.789G>A (p.Val263=)
c.2064G>A (p.Val688=)
c.8964G>A (p.Val2988=)
c.8961G>A (p.Val2987=)
c.8973G>A (p.Val2991=)
c.8952G>A (p.Val2984=)
c.8607G>A (p.Val2869=)
c.4953G>A (p.Val1651=)
c.8847G>A (p.Val2949=)
c.8838G>A (p.Val2946=)
c.8853G>A (p.Val2951=)
c.3150G>A (p.Val1050=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444590A>CCA412655261DMDc.3821T>G (p.Val1274Gly)
c.1595T>G (p.Val532Gly)
n.2440T>G
n.2467T>G
c.830T>G (p.Val277Gly)
c.8975T>G (p.Val2992Gly)
c.4943T>G (p.Val1648Gly)
n.2636T>G
c.788T>G (p.Val263Gly)
c.2063T>G (p.Val688Gly)
c.8963T>G (p.Val2988Gly)
c.8960T>G (p.Val2987Gly)
c.8972T>G (p.Val2991Gly)
c.8951T>G (p.Val2984Gly)
c.8606T>G (p.Val2869Gly)
c.4952T>G (p.Val1651Gly)
c.8846T>G (p.Val2949Gly)
c.8837T>G (p.Val2946Gly)
c.8852T>G (p.Val2951Gly)
c.3149T>G (p.Val1050Gly)
Xg.31444590A>GCA412655260DMDc.3821T>C (p.Val1274Ala)
c.1595T>C (p.Val532Ala)
n.2440T>C
n.2467T>C
c.830T>C (p.Val277Ala)
c.8975T>C (p.Val2992Ala)
c.4943T>C (p.Val1648Ala)
n.2636T>C
c.788T>C (p.Val263Ala)
c.2063T>C (p.Val688Ala)
c.8963T>C (p.Val2988Ala)
c.8960T>C (p.Val2987Ala)
c.8972T>C (p.Val2991Ala)
c.8951T>C (p.Val2984Ala)
c.8606T>C (p.Val2869Ala)
c.4952T>C (p.Val1651Ala)
c.8846T>C (p.Val2949Ala)
c.8837T>C (p.Val2946Ala)
c.8852T>C (p.Val2951Ala)
c.3149T>C (p.Val1050Ala)
Xg.31444590A>TCA412655259DMDc.3821T>A (p.Val1274Glu)
c.1595T>A (p.Val532Glu)
n.2440T>A
n.2467T>A
c.830T>A (p.Val277Glu)
c.8975T>A (p.Val2992Glu)
c.4943T>A (p.Val1648Glu)
n.2636T>A
c.788T>A (p.Val263Glu)
c.2063T>A (p.Val688Glu)
c.8963T>A (p.Val2988Glu)
c.8960T>A (p.Val2987Glu)
c.8972T>A (p.Val2991Glu)
c.8951T>A (p.Val2984Glu)
c.8606T>A (p.Val2869Glu)
c.4952T>A (p.Val1651Glu)
c.8846T>A (p.Val2949Glu)
c.8837T>A (p.Val2946Glu)
c.8852T>A (p.Val2951Glu)
c.3149T>A (p.Val1050Glu)
Xg.31444591C>ACA412655262DMDc.3820G>T (p.Val1274Leu)
c.1594G>T (p.Val532Leu)
n.2439G>T
n.2466G>T
c.829G>T (p.Val277Leu)
c.8974G>T (p.Val2992Leu)
c.4942G>T (p.Val1648Leu)
n.2635G>T
c.787G>T (p.Val263Leu)
c.2062G>T (p.Val688Leu)
c.8962G>T (p.Val2988Leu)
c.8959G>T (p.Val2987Leu)
c.8971G>T (p.Val2991Leu)
c.8950G>T (p.Val2984Leu)
c.8605G>T (p.Val2869Leu)
c.4951G>T (p.Val1651Leu)
c.8845G>T (p.Val2949Leu)
c.8836G>T (p.Val2946Leu)
c.8851G>T (p.Val2951Leu)
c.3148G>T (p.Val1050Leu)
Xg.31444591C=CA2422434068DMDc.3820G= (p.Val1274=)
c.1594G= (p.Val532=)
n.2439G=
n.2466G=
c.829G= (p.Val277=)
c.8974G= (p.Val2992=)
c.4942G= (p.Val1648=)
n.2635G=
c.787G= (p.Val263=)
c.2062G= (p.Val688=)
c.8962G= (p.Val2988=)
c.8959G= (p.Val2987=)
c.8971G= (p.Val2991=)
c.8950G= (p.Val2984=)
c.8605G= (p.Val2869=)
c.4951G= (p.Val1651=)
c.8845G= (p.Val2949=)
c.8836G= (p.Val2946=)
c.8851G= (p.Val2951=)
c.3148G= (p.Val1050=)
Xg.31444591C>GCA412655263DMDc.3820G>C (p.Val1274Leu)
c.1594G>C (p.Val532Leu)
n.2439G>C
n.2466G>C
c.829G>C (p.Val277Leu)
c.8974G>C (p.Val2992Leu)
c.4942G>C (p.Val1648Leu)
n.2635G>C
c.787G>C (p.Val263Leu)
c.2062G>C (p.Val688Leu)
c.8962G>C (p.Val2988Leu)
c.8959G>C (p.Val2987Leu)
c.8971G>C (p.Val2991Leu)
c.8950G>C (p.Val2984Leu)
c.8605G>C (p.Val2869Leu)
c.4951G>C (p.Val1651Leu)
c.8845G>C (p.Val2949Leu)
c.8836G>C (p.Val2946Leu)
c.8851G>C (p.Val2951Leu)
c.3148G>C (p.Val1050Leu)
Xg.31444591C>TCA308370DMDc.3820G>A (p.Val1274Met)
c.1594G>A (p.Val532Met)
n.2439G>A
n.2466G>A
c.829G>A (p.Val277Met)
c.8974G>A (p.Val2992Met)
c.4942G>A (p.Val1648Met)
n.2635G>A
c.787G>A (p.Val263Met)
c.2062G>A (p.Val688Met)
c.8962G>A (p.Val2988Met)
c.8959G>A (p.Val2987Met)
c.8971G>A (p.Val2991Met)
c.8950G>A (p.Val2984Met)
c.8605G>A (p.Val2869Met)
c.4951G>A (p.Val1651Met)
c.8845G>A (p.Val2949Met)
c.8836G>A (p.Val2946Met)
c.8851G>A (p.Val2951Met)
c.3148G>A (p.Val1050Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444592G>ACA10377942DMDc.3819C>T (p.Asn1273=)
c.1593C>T (p.Asn531=)
n.2438C>T
n.2465C>T
c.828C>T (p.Asn276=)
c.8973C>T (p.Asn2991=)
c.4941C>T (p.Asn1647=)
n.2634C>T
c.786C>T (p.Asn262=)
c.2061C>T (p.Asn687=)
c.8961C>T (p.Asn2987=)
c.8958C>T (p.Asn2986=)
c.8970C>T (p.Asn2990=)
c.8949C>T (p.Asn2983=)
c.8604C>T (p.Asn2868=)
c.4950C>T (p.Asn1650=)
c.8844C>T (p.Asn2948=)
c.8835C>T (p.Asn2945=)
c.8850C>T (p.Asn2950=)
c.3147C>T (p.Asn1049=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444592G>CCA10377943DMDc.3819C>G (p.Asn1273Lys)
c.1593C>G (p.Asn531Lys)
n.2438C>G
n.2465C>G
c.828C>G (p.Asn276Lys)
c.8973C>G (p.Asn2991Lys)
c.4941C>G (p.Asn1647Lys)
n.2634C>G
c.786C>G (p.Asn262Lys)
c.2061C>G (p.Asn687Lys)
c.8961C>G (p.Asn2987Lys)
c.8958C>G (p.Asn2986Lys)
c.8970C>G (p.Asn2990Lys)
c.8949C>G (p.Asn2983Lys)
c.8604C>G (p.Asn2868Lys)
c.4950C>G (p.Asn1650Lys)
c.8844C>G (p.Asn2948Lys)
c.8835C>G (p.Asn2945Lys)
c.8850C>G (p.Asn2950Lys)
c.3147C>G (p.Asn1049Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31444592G=CA2422434069DMDc.3819C= (p.Asn1273=)
c.1593C= (p.Asn531=)
n.2438C=
n.2465C=
c.828C= (p.Asn276=)
c.8973C= (p.Asn2991=)
c.4941C= (p.Asn1647=)
n.2634C=
c.786C= (p.Asn262=)
c.2061C= (p.Asn687=)
c.8961C= (p.Asn2987=)
c.8958C= (p.Asn2986=)
c.8970C= (p.Asn2990=)
c.8949C= (p.Asn2983=)
c.8604C= (p.Asn2868=)
c.4950C= (p.Asn1650=)
c.8844C= (p.Asn2948=)
c.8835C= (p.Asn2945=)
c.8850C= (p.Asn2950=)
c.3147C= (p.Asn1049=)
Xg.31444592G>TCA412655264DMDc.3819C>A (p.Asn1273Lys)
c.1593C>A (p.Asn531Lys)
n.2438C>A
n.2465C>A
c.828C>A (p.Asn276Lys)
c.8973C>A (p.Asn2991Lys)
c.4941C>A (p.Asn1647Lys)
n.2634C>A
c.786C>A (p.Asn262Lys)
c.2061C>A (p.Asn687Lys)
c.8961C>A (p.Asn2987Lys)
c.8958C>A (p.Asn2986Lys)
c.8970C>A (p.Asn2990Lys)
c.8949C>A (p.Asn2983Lys)
c.8604C>A (p.Asn2868Lys)
c.4950C>A (p.Asn1650Lys)
c.8844C>A (p.Asn2948Lys)
c.8835C>A (p.Asn2945Lys)
c.8850C>A (p.Asn2950Lys)
c.3147C>A (p.Asn1049Lys)
Xg.31444593T>ACA412655265DMDc.3818A>T (p.Asn1273Ile)
c.1592A>T (p.Asn531Ile)
n.2437A>T
n.2464A>T
c.827A>T (p.Asn276Ile)
c.8972A>T (p.Asn2991Ile)
c.4940A>T (p.Asn1647Ile)
n.2633A>T
c.785A>T (p.Asn262Ile)
c.2060A>T (p.Asn687Ile)
c.8960A>T (p.Asn2987Ile)
c.8957A>T (p.Asn2986Ile)
c.8969A>T (p.Asn2990Ile)
c.8948A>T (p.Asn2983Ile)
c.8603A>T (p.Asn2868Ile)
c.4949A>T (p.Asn1650Ile)
c.8843A>T (p.Asn2948Ile)
c.8834A>T (p.Asn2945Ile)
c.8849A>T (p.Asn2950Ile)
c.3146A>T (p.Asn1049Ile)
Xg.31444593T>CCA412655267DMDc.3818A>G (p.Asn1273Ser)
c.1592A>G (p.Asn531Ser)
n.2437A>G
n.2464A>G
c.827A>G (p.Asn276Ser)
c.8972A>G (p.Asn2991Ser)
c.4940A>G (p.Asn1647Ser)
n.2633A>G
c.785A>G (p.Asn262Ser)
c.2060A>G (p.Asn687Ser)
c.8960A>G (p.Asn2987Ser)
c.8957A>G (p.Asn2986Ser)
c.8969A>G (p.Asn2990Ser)
c.8948A>G (p.Asn2983Ser)
c.8603A>G (p.Asn2868Ser)
c.4949A>G (p.Asn1650Ser)
c.8843A>G (p.Asn2948Ser)
c.8834A>G (p.Asn2945Ser)
c.8849A>G (p.Asn2950Ser)
c.3146A>G (p.Asn1049Ser)
Xg.31444593T>GCA412655266DMDc.3818A>C (p.Asn1273Thr)
c.1592A>C (p.Asn531Thr)
n.2437A>C
n.2464A>C
c.827A>C (p.Asn276Thr)
c.8972A>C (p.Asn2991Thr)
c.4940A>C (p.Asn1647Thr)
n.2633A>C
c.785A>C (p.Asn262Thr)
c.2060A>C (p.Asn687Thr)
c.8960A>C (p.Asn2987Thr)
c.8957A>C (p.Asn2986Thr)
c.8969A>C (p.Asn2990Thr)
c.8948A>C (p.Asn2983Thr)
c.8603A>C (p.Asn2868Thr)
c.4949A>C (p.Asn1650Thr)
c.8843A>C (p.Asn2948Thr)
c.8834A>C (p.Asn2945Thr)
c.8849A>C (p.Asn2950Thr)
c.3146A>C (p.Asn1049Thr)
Xg.31444593_31444595delinsTTCCA2422434070DMDc.3816_3818delinsGAA (p.Glu1272=)
c.1590_1592delinsGAA (p.Glu530=)
n.2435_2437delinsGAA
n.2462_2464delinsGAA
c.825_827delinsGAA (p.Glu275=)
c.8970_8972delinsGAA (p.Glu2990=)
c.4938_4940delinsGAA (p.Glu1646=)
n.2631_2633delinsGAA
c.783_785delinsGAA (p.Glu261=)
c.2058_2060delinsGAA (p.Glu686=)
c.8958_8960delinsGAA (p.Glu2986=)
c.8955_8957delinsGAA (p.Glu2985=)
c.8967_8969delinsGAA (p.Glu2989=)
c.8946_8948delinsGAA (p.Glu2982=)
c.8601_8603delinsGAA (p.Glu2867=)
c.4947_4949delinsGAA (p.Glu1649=)
c.8841_8843delinsGAA (p.Glu2947=)
c.8832_8834delinsGAA (p.Glu2944=)
c.8847_8849delinsGAA (p.Glu2949=)
c.3144_3146delinsGAA (p.Glu1048=)
Xg.31444594T>ACA412655268DMDc.3817A>T (p.Asn1273Tyr)
c.1591A>T (p.Asn531Tyr)
n.2436A>T
n.2463A>T
c.826A>T (p.Asn276Tyr)
c.8971A>T (p.Asn2991Tyr)
c.4939A>T (p.Asn1647Tyr)
n.2632A>T
c.784A>T (p.Asn262Tyr)
c.2059A>T (p.Asn687Tyr)
c.8959A>T (p.Asn2987Tyr)
c.8956A>T (p.Asn2986Tyr)
c.8968A>T (p.Asn2990Tyr)
c.8947A>T (p.Asn2983Tyr)
c.8602A>T (p.Asn2868Tyr)
c.4948A>T (p.Asn1650Tyr)
c.8842A>T (p.Asn2948Tyr)
c.8833A>T (p.Asn2945Tyr)
c.8848A>T (p.Asn2950Tyr)
c.3145A>T (p.Asn1049Tyr)
Xg.31444594T>CCA412655269DMDc.3817A>G (p.Asn1273Asp)
c.1591A>G (p.Asn531Asp)
n.2436A>G
n.2463A>G
c.826A>G (p.Asn276Asp)
c.8971A>G (p.Asn2991Asp)
c.4939A>G (p.Asn1647Asp)
n.2632A>G
c.784A>G (p.Asn262Asp)
c.2059A>G (p.Asn687Asp)
c.8959A>G (p.Asn2987Asp)
c.8956A>G (p.Asn2986Asp)
c.8968A>G (p.Asn2990Asp)
c.8947A>G (p.Asn2983Asp)
c.8602A>G (p.Asn2868Asp)
c.4948A>G (p.Asn1650Asp)
c.8842A>G (p.Asn2948Asp)
c.8833A>G (p.Asn2945Asp)
c.8848A>G (p.Asn2950Asp)
c.3145A>G (p.Asn1049Asp)
Xg.31444594T>GCA412655270DMDc.3817A>C (p.Asn1273His)
c.1591A>C (p.Asn531His)
n.2436A>C
n.2463A>C
c.826A>C (p.Asn276His)
c.8971A>C (p.Asn2991His)
c.4939A>C (p.Asn1647His)
n.2632A>C
c.784A>C (p.Asn262His)
c.2059A>C (p.Asn687His)
c.8959A>C (p.Asn2987His)
c.8956A>C (p.Asn2986His)
c.8968A>C (p.Asn2990His)
c.8947A>C (p.Asn2983His)
c.8602A>C (p.Asn2868His)
c.4948A>C (p.Asn1650His)
c.8842A>C (p.Asn2948His)
c.8833A>C (p.Asn2945His)
c.8848A>C (p.Asn2950His)
c.3145A>C (p.Asn1049His)
Xg.31444597_31444598delCA347570DMDc.3816_3817del (p.Asn1273ArgfsTer6)
c.1590_1591del (p.Asn531ArgfsTer6)
n.2435_2436del
n.2462_2463del
c.825_826del (p.Asn276ArgfsTer6)
c.8970_8971del (p.Asn2991ArgfsTer6)
c.4938_4939del (p.Asn1647ArgfsTer6)
n.2631_2632del
c.783_784del (p.Asn262ArgfsTer6)
c.2058_2059del (p.Asn687ArgfsTer6)
c.8958_8959del (p.Asn2987ArgfsTer6)
c.8955_8956del (p.Asn2986ArgfsTer6)
c.8967_8968del (p.Asn2990ArgfsTer6)
c.8946_8947del (p.Asn2983ArgfsTer6)
c.8601_8602del (p.Asn2868ArgfsTer6)
c.4947_4948del (p.Asn1650ArgfsTer6)
c.8841_8842del (p.Asn2948ArgfsTer6)
c.8832_8833del (p.Asn2945ArgfsTer6)
c.8847_8848del (p.Asn2950ArgfsTer6)
c.3144_3145del (p.Asn1049ArgfsTer6)
 ClinVar dbSNP
Xg.31444595C>ACA412655271DMDc.3816G>T (p.Glu1272Asp)
c.1590G>T (p.Glu530Asp)
n.2435G>T
n.2462G>T
c.825G>T (p.Glu275Asp)
c.8970G>T (p.Glu2990Asp)
c.4938G>T (p.Glu1646Asp)
n.2631G>T
c.783G>T (p.Glu261Asp)
c.2058G>T (p.Glu686Asp)
c.8958G>T (p.Glu2986Asp)
c.8955G>T (p.Glu2985Asp)
c.8967G>T (p.Glu2989Asp)
c.8946G>T (p.Glu2982Asp)
c.8601G>T (p.Glu2867Asp)
c.4947G>T (p.Glu1649Asp)
c.8841G>T (p.Glu2947Asp)
c.8832G>T (p.Glu2944Asp)
c.8847G>T (p.Glu2949Asp)
c.3144G>T (p.Glu1048Asp)
Xg.31444595C>GCA412655272DMDc.3816G>C (p.Glu1272Asp)
c.1590G>C (p.Glu530Asp)
n.2435G>C
n.2462G>C
c.825G>C (p.Glu275Asp)
c.8970G>C (p.Glu2990Asp)
c.4938G>C (p.Glu1646Asp)
n.2631G>C
c.783G>C (p.Glu261Asp)
c.2058G>C (p.Glu686Asp)
c.8958G>C (p.Glu2986Asp)
c.8955G>C (p.Glu2985Asp)
c.8967G>C (p.Glu2989Asp)
c.8946G>C (p.Glu2982Asp)
c.8601G>C (p.Glu2867Asp)
c.4947G>C (p.Glu1649Asp)
c.8841G>C (p.Glu2947Asp)
c.8832G>C (p.Glu2944Asp)
c.8847G>C (p.Glu2949Asp)
c.3144G>C (p.Glu1048Asp)
 gnomAD v4
Xg.31444595C>TCA515858289DMDc.3816G>A (p.Glu1272=)
c.1590G>A (p.Glu530=)
n.2435G>A
n.2462G>A
c.825G>A (p.Glu275=)
c.8970G>A (p.Glu2990=)
c.4938G>A (p.Glu1646=)
n.2631G>A
c.783G>A (p.Glu261=)
c.2058G>A (p.Glu686=)
c.8958G>A (p.Glu2986=)
c.8955G>A (p.Glu2985=)
c.8967G>A (p.Glu2989=)
c.8946G>A (p.Glu2982=)
c.8601G>A (p.Glu2867=)
c.4947G>A (p.Glu1649=)
c.8841G>A (p.Glu2947=)
c.8832G>A (p.Glu2944=)
c.8847G>A (p.Glu2949=)
c.3144G>A (p.Glu1048=)
Xg.31444596T>ACA412655275DMDc.3815A>T (p.Glu1272Val)
c.1589A>T (p.Glu530Val)
n.2434A>T
n.2461A>T
c.824A>T (p.Glu275Val)
c.8969A>T (p.Glu2990Val)
c.4937A>T (p.Glu1646Val)
n.2630A>T
c.782A>T (p.Glu261Val)
c.2057A>T (p.Glu686Val)
c.8957A>T (p.Glu2986Val)
c.8954A>T (p.Glu2985Val)
c.8966A>T (p.Glu2989Val)
c.8945A>T (p.Glu2982Val)
c.8600A>T (p.Glu2867Val)
c.4946A>T (p.Glu1649Val)
c.8840A>T (p.Glu2947Val)
c.8831A>T (p.Glu2944Val)
c.8846A>T (p.Glu2949Val)
c.3143A>T (p.Glu1048Val)
Xg.31444596T>CCA412655274DMDc.3815A>G (p.Glu1272Gly)
c.1589A>G (p.Glu530Gly)
n.2434A>G
n.2461A>G
c.824A>G (p.Glu275Gly)
c.8969A>G (p.Glu2990Gly)
c.4937A>G (p.Glu1646Gly)
n.2630A>G
c.782A>G (p.Glu261Gly)
c.2057A>G (p.Glu686Gly)
c.8957A>G (p.Glu2986Gly)
c.8954A>G (p.Glu2985Gly)
c.8966A>G (p.Glu2989Gly)
c.8945A>G (p.Glu2982Gly)
c.8600A>G (p.Glu2867Gly)
c.4946A>G (p.Glu1649Gly)
c.8840A>G (p.Glu2947Gly)
c.8831A>G (p.Glu2944Gly)
c.8846A>G (p.Glu2949Gly)
c.3143A>G (p.Glu1048Gly)
 gnomAD v4
Xg.31444596T>GCA412655273DMDc.3815A>C (p.Glu1272Ala)
c.1589A>C (p.Glu530Ala)
n.2434A>C
n.2461A>C
c.824A>C (p.Glu275Ala)
c.8969A>C (p.Glu2990Ala)
c.4937A>C (p.Glu1646Ala)
n.2630A>C
c.782A>C (p.Glu261Ala)
c.2057A>C (p.Glu686Ala)
c.8957A>C (p.Glu2986Ala)
c.8954A>C (p.Glu2985Ala)
c.8966A>C (p.Glu2989Ala)
c.8945A>C (p.Glu2982Ala)
c.8600A>C (p.Glu2867Ala)
c.4946A>C (p.Glu1649Ala)
c.8840A>C (p.Glu2947Ala)
c.8831A>C (p.Glu2944Ala)
c.8846A>C (p.Glu2949Ala)
c.3143A>C (p.Glu1048Ala)
Xg.31444597C>ACA412655276DMDc.3814G>T (p.Glu1272Ter)
c.1588G>T (p.Glu530Ter)
n.2433G>T
n.2460G>T
c.823G>T (p.Glu275Ter)
c.8968G>T (p.Glu2990Ter)
c.4936G>T (p.Glu1646Ter)
n.2629G>T
c.781G>T (p.Glu261Ter)
c.2056G>T (p.Glu686Ter)
c.8956G>T (p.Glu2986Ter)
c.8953G>T (p.Glu2985Ter)
c.8965G>T (p.Glu2989Ter)
c.8944G>T (p.Glu2982Ter)
c.8599G>T (p.Glu2867Ter)
c.4945G>T (p.Glu1649Ter)
c.8839G>T (p.Glu2947Ter)
c.8830G>T (p.Glu2944Ter)
c.8845G>T (p.Glu2949Ter)
c.3142G>T (p.Glu1048Ter)
Xg.31444597C=CA2422434071DMDc.3814G= (p.Glu1272=)
c.1588G= (p.Glu530=)
n.2433G=
n.2460G=
c.823G= (p.Glu275=)
c.8968G= (p.Glu2990=)
c.4936G= (p.Glu1646=)
n.2629G=
c.781G= (p.Glu261=)
c.2056G= (p.Glu686=)
c.8956G= (p.Glu2986=)
c.8953G= (p.Glu2985=)
c.8965G= (p.Glu2989=)
c.8944G= (p.Glu2982=)
c.8599G= (p.Glu2867=)
c.4945G= (p.Glu1649=)
c.8839G= (p.Glu2947=)
c.8830G= (p.Glu2944=)
c.8845G= (p.Glu2949=)
c.3142G= (p.Glu1048=)
Xg.31444597C>GCA412655277DMDc.3814G>C (p.Glu1272Gln)
c.1588G>C (p.Glu530Gln)
n.2433G>C
n.2460G>C
c.823G>C (p.Glu275Gln)
c.8968G>C (p.Glu2990Gln)
c.4936G>C (p.Glu1646Gln)
n.2629G>C
c.781G>C (p.Glu261Gln)
c.2056G>C (p.Glu686Gln)
c.8956G>C (p.Glu2986Gln)
c.8953G>C (p.Glu2985Gln)
c.8965G>C (p.Glu2989Gln)
c.8944G>C (p.Glu2982Gln)
c.8599G>C (p.Glu2867Gln)
c.4945G>C (p.Glu1649Gln)
c.8839G>C (p.Glu2947Gln)
c.8830G>C (p.Glu2944Gln)
c.8845G>C (p.Glu2949Gln)
c.3142G>C (p.Glu1048Gln)
 gnomAD v4
Xg.31444597C>TCA412655278DMDc.3814G>A (p.Glu1272Lys)
c.1588G>A (p.Glu530Lys)
n.2433G>A
n.2460G>A
c.823G>A (p.Glu275Lys)
c.8968G>A (p.Glu2990Lys)
c.4936G>A (p.Glu1646Lys)
n.2629G>A
c.781G>A (p.Glu261Lys)
c.2056G>A (p.Glu686Lys)
c.8956G>A (p.Glu2986Lys)
c.8953G>A (p.Glu2985Lys)
c.8965G>A (p.Glu2989Lys)
c.8944G>A (p.Glu2982Lys)
c.8599G>A (p.Glu2867Lys)
c.4945G>A (p.Glu1649Lys)
c.8839G>A (p.Glu2947Lys)
c.8830G>A (p.Glu2944Lys)
c.8845G>A (p.Glu2949Lys)
c.3142G>A (p.Glu1048Lys)
 dbSNP
Xg.31444598T>ACA412655279DMDc.3813A>T (p.Lys1271Asn)
c.1587A>T (p.Lys529Asn)
n.2432A>T
n.2459A>T
c.822A>T (p.Lys274Asn)
c.8967A>T (p.Lys2989Asn)
c.4935A>T (p.Lys1645Asn)
n.2628A>T
c.780A>T (p.Lys260Asn)
c.2055A>T (p.Lys685Asn)
c.8955A>T (p.Lys2985Asn)
c.8952A>T (p.Lys2984Asn)
c.8964A>T (p.Lys2988Asn)
c.8943A>T (p.Lys2981Asn)
c.8598A>T (p.Lys2866Asn)
c.4944A>T (p.Lys1648Asn)
c.8838A>T (p.Lys2946Asn)
c.8829A>T (p.Lys2943Asn)
c.8844A>T (p.Lys2948Asn)
c.3141A>T (p.Lys1047Asn)
Xg.31444598T>CCA10606399DMDc.3813A>G (p.Lys1271=)
c.1587A>G (p.Lys529=)
n.2432A>G
n.2459A>G
c.822A>G (p.Lys274=)
c.8967A>G (p.Lys2989=)
c.4935A>G (p.Lys1645=)
n.2628A>G
c.780A>G (p.Lys260=)
c.2055A>G (p.Lys685=)
c.8955A>G (p.Lys2985=)
c.8952A>G (p.Lys2984=)
c.8964A>G (p.Lys2988=)
c.8943A>G (p.Lys2981=)
c.8598A>G (p.Lys2866=)
c.4944A>G (p.Lys1648=)
c.8838A>G (p.Lys2946=)
c.8829A>G (p.Lys2943=)
c.8844A>G (p.Lys2948=)
c.3141A>G (p.Lys1047=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31444598T>GCA412655280DMDc.3813A>C (p.Lys1271Asn)
c.1587A>C (p.Lys529Asn)
n.2432A>C
n.2459A>C
c.822A>C (p.Lys274Asn)
c.8967A>C (p.Lys2989Asn)
c.4935A>C (p.Lys1645Asn)
n.2628A>C
c.780A>C (p.Lys260Asn)
c.2055A>C (p.Lys685Asn)
c.8955A>C (p.Lys2985Asn)
c.8952A>C (p.Lys2984Asn)
c.8964A>C (p.Lys2988Asn)
c.8943A>C (p.Lys2981Asn)
c.8598A>C (p.Lys2866Asn)
c.4944A>C (p.Lys1648Asn)
c.8838A>C (p.Lys2946Asn)
c.8829A>C (p.Lys2943Asn)
c.8844A>C (p.Lys2948Asn)
c.3141A>C (p.Lys1047Asn)
Xg.31444598T=CA2422434072DMDc.3813A= (p.Lys1271=)
c.1587A= (p.Lys529=)
n.2432A=
n.2459A=
c.822A= (p.Lys274=)
c.8967A= (p.Lys2989=)
c.4935A= (p.Lys1645=)
n.2628A=
c.780A= (p.Lys260=)
c.2055A= (p.Lys685=)
c.8955A= (p.Lys2985=)
c.8952A= (p.Lys2984=)
c.8964A= (p.Lys2988=)
c.8943A= (p.Lys2981=)
c.8598A= (p.Lys2866=)
c.4944A= (p.Lys1648=)
c.8838A= (p.Lys2946=)
c.8829A= (p.Lys2943=)
c.8844A= (p.Lys2948=)
c.3141A= (p.Lys1047=)
Xg.31444599T>ACA412655281DMDc.3812A>T (p.Lys1271Ile)
c.1586A>T (p.Lys529Ile)
n.2431A>T
n.2458A>T
c.821A>T (p.Lys274Ile)
c.8966A>T (p.Lys2989Ile)
c.4934A>T (p.Lys1645Ile)
n.2627A>T
c.779A>T (p.Lys260Ile)
c.2054A>T (p.Lys685Ile)
c.8954A>T (p.Lys2985Ile)
c.8951A>T (p.Lys2984Ile)
c.8963A>T (p.Lys2988Ile)
c.8942A>T (p.Lys2981Ile)
c.8597A>T (p.Lys2866Ile)
c.4943A>T (p.Lys1648Ile)
c.8837A>T (p.Lys2946Ile)
c.8828A>T (p.Lys2943Ile)
c.8843A>T (p.Lys2948Ile)
c.3140A>T (p.Lys1047Ile)
Xg.31444599T>CCA412655283DMDc.3812A>G (p.Lys1271Arg)
c.1586A>G (p.Lys529Arg)
n.2431A>G
n.2458A>G
c.821A>G (p.Lys274Arg)
c.8966A>G (p.Lys2989Arg)
c.4934A>G (p.Lys1645Arg)
n.2627A>G
c.779A>G (p.Lys260Arg)
c.2054A>G (p.Lys685Arg)
c.8954A>G (p.Lys2985Arg)
c.8951A>G (p.Lys2984Arg)
c.8963A>G (p.Lys2988Arg)
c.8942A>G (p.Lys2981Arg)
c.8597A>G (p.Lys2866Arg)
c.4943A>G (p.Lys1648Arg)
c.8837A>G (p.Lys2946Arg)
c.8828A>G (p.Lys2943Arg)
c.8843A>G (p.Lys2948Arg)
c.3140A>G (p.Lys1047Arg)
Xg.31444599T>GCA412655282DMDc.3812A>C (p.Lys1271Thr)
c.1586A>C (p.Lys529Thr)
n.2431A>C
n.2458A>C
c.821A>C (p.Lys274Thr)
c.8966A>C (p.Lys2989Thr)
c.4934A>C (p.Lys1645Thr)
n.2627A>C
c.779A>C (p.Lys260Thr)
c.2054A>C (p.Lys685Thr)
c.8954A>C (p.Lys2985Thr)
c.8951A>C (p.Lys2984Thr)
c.8963A>C (p.Lys2988Thr)
c.8942A>C (p.Lys2981Thr)
c.8597A>C (p.Lys2866Thr)
c.4943A>C (p.Lys1648Thr)
c.8837A>C (p.Lys2946Thr)
c.8828A>C (p.Lys2943Thr)
c.8843A>C (p.Lys2948Thr)
c.3140A>C (p.Lys1047Thr)
Xg.31444600T>ACA412655284DMDc.3811A>T (p.Lys1271Ter)
c.1585A>T (p.Lys529Ter)
n.2430A>T
n.2457A>T
c.820A>T (p.Lys274Ter)
c.8965A>T (p.Lys2989Ter)
c.4933A>T (p.Lys1645Ter)
n.2626A>T
c.778A>T (p.Lys260Ter)
c.2053A>T (p.Lys685Ter)
c.8953A>T (p.Lys2985Ter)
c.8950A>T (p.Lys2984Ter)
c.8962A>T (p.Lys2988Ter)
c.8941A>T (p.Lys2981Ter)
c.8596A>T (p.Lys2866Ter)
c.4942A>T (p.Lys1648Ter)
c.8836A>T (p.Lys2946Ter)
c.8827A>T (p.Lys2943Ter)
c.8842A>T (p.Lys2948Ter)
c.3139A>T (p.Lys1047Ter)
 ClinVar dbSNP
Xg.31444600T>CCA412655285DMDc.3811A>G (p.Lys1271Glu)
c.1585A>G (p.Lys529Glu)
n.2430A>G
n.2457A>G
c.820A>G (p.Lys274Glu)
c.8965A>G (p.Lys2989Glu)
c.4933A>G (p.Lys1645Glu)
n.2626A>G
c.778A>G (p.Lys260Glu)
c.2053A>G (p.Lys685Glu)
c.8953A>G (p.Lys2985Glu)
c.8950A>G (p.Lys2984Glu)
c.8962A>G (p.Lys2988Glu)
c.8941A>G (p.Lys2981Glu)
c.8596A>G (p.Lys2866Glu)
c.4942A>G (p.Lys1648Glu)
c.8836A>G (p.Lys2946Glu)
c.8827A>G (p.Lys2943Glu)
c.8842A>G (p.Lys2948Glu)
c.3139A>G (p.Lys1047Glu)
 dbSNP gnomAD v4
Xg.31444600T>GCA412655286DMDc.3811A>C (p.Lys1271Gln)
c.1585A>C (p.Lys529Gln)
n.2430A>C
n.2457A>C
c.820A>C (p.Lys274Gln)
c.8965A>C (p.Lys2989Gln)
c.4933A>C (p.Lys1645Gln)
n.2626A>C
c.778A>C (p.Lys260Gln)
c.2053A>C (p.Lys685Gln)
c.8953A>C (p.Lys2985Gln)
c.8950A>C (p.Lys2984Gln)
c.8962A>C (p.Lys2988Gln)
c.8941A>C (p.Lys2981Gln)
c.8596A>C (p.Lys2866Gln)
c.4942A>C (p.Lys1648Gln)
c.8836A>C (p.Lys2946Gln)
c.8827A>C (p.Lys2943Gln)
c.8842A>C (p.Lys2948Gln)
c.3139A>C (p.Lys1047Gln)
Xg.31444600T=CA2422434073DMDc.3811A= (p.Lys1271=)
c.1585A= (p.Lys529=)
n.2430A=
n.2457A=
c.820A= (p.Lys274=)
c.8965A= (p.Lys2989=)
c.4933A= (p.Lys1645=)
n.2626A=
c.778A= (p.Lys260=)
c.2053A= (p.Lys685=)
c.8953A= (p.Lys2985=)
c.8950A= (p.Lys2984=)
c.8962A= (p.Lys2988=)
c.8941A= (p.Lys2981=)
c.8596A= (p.Lys2866=)
c.4942A= (p.Lys1648=)
c.8836A= (p.Lys2946=)
c.8827A= (p.Lys2943=)
c.8842A= (p.Lys2948=)
c.3139A= (p.Lys1047=)
Xg.31444601C>ACA515858295DMDc.3810G>T (p.Leu1270=)
c.1584G>T (p.Leu528=)
n.2429G>T
n.2456G>T
c.819G>T (p.Leu273=)
c.8964G>T (p.Leu2988=)
c.4932G>T (p.Leu1644=)
n.2625G>T
c.777G>T (p.Leu259=)
c.2052G>T (p.Leu684=)
c.8952G>T (p.Leu2984=)
c.8949G>T (p.Leu2983=)
c.8961G>T (p.Leu2987=)
c.8940G>T (p.Leu2980=)
c.8595G>T (p.Leu2865=)
c.4941G>T (p.Leu1647=)
c.8835G>T (p.Leu2945=)
c.8826G>T (p.Leu2942=)
c.8841G>T (p.Leu2947=)
c.3138G>T (p.Leu1046=)
 gnomAD v4
Xg.31444601C>GCA515858297DMDc.3810G>C (p.Leu1270=)
c.1584G>C (p.Leu528=)
n.2429G>C
n.2456G>C
c.819G>C (p.Leu273=)
c.8964G>C (p.Leu2988=)
c.4932G>C (p.Leu1644=)
n.2625G>C
c.777G>C (p.Leu259=)
c.2052G>C (p.Leu684=)
c.8952G>C (p.Leu2984=)
c.8949G>C (p.Leu2983=)
c.8961G>C (p.Leu2987=)
c.8940G>C (p.Leu2980=)
c.8595G>C (p.Leu2865=)
c.4941G>C (p.Leu1647=)
c.8835G>C (p.Leu2945=)
c.8826G>C (p.Leu2942=)
c.8841G>C (p.Leu2947=)
c.3138G>C (p.Leu1046=)
Xg.31444601C>TCA515858298DMDc.3810G>A (p.Leu1270=)
c.1584G>A (p.Leu528=)
n.2429G>A
n.2456G>A
c.819G>A (p.Leu273=)
c.8964G>A (p.Leu2988=)
c.4932G>A (p.Leu1644=)
n.2625G>A
c.777G>A (p.Leu259=)
c.2052G>A (p.Leu684=)
c.8952G>A (p.Leu2984=)
c.8949G>A (p.Leu2983=)
c.8961G>A (p.Leu2987=)
c.8940G>A (p.Leu2980=)
c.8595G>A (p.Leu2865=)
c.4941G>A (p.Leu1647=)
c.8835G>A (p.Leu2945=)
c.8826G>A (p.Leu2942=)
c.8841G>A (p.Leu2947=)
c.3138G>A (p.Leu1046=)
Xg.31444602A=CA2422434074DMDc.3809T= (p.Leu1270=)
c.1583T= (p.Leu528=)
n.2428T=
n.2455T=
c.818T= (p.Leu273=)
c.8963T= (p.Leu2988=)
c.4931T= (p.Leu1644=)
n.2624T=
c.776T= (p.Leu259=)
c.2051T= (p.Leu684=)
c.8951T= (p.Leu2984=)
c.8948T= (p.Leu2983=)
c.8960T= (p.Leu2987=)
c.8939T= (p.Leu2980=)
c.8594T= (p.Leu2865=)
c.4940T= (p.Leu1647=)
c.8834T= (p.Leu2945=)
c.8825T= (p.Leu2942=)
c.8840T= (p.Leu2947=)
c.3137T= (p.Leu1046=)
Xg.31444602A>CCA412655287DMDc.3809T>G (p.Leu1270Arg)
c.1583T>G (p.Leu528Arg)
n.2428T>G
n.2455T>G
c.818T>G (p.Leu273Arg)
c.8963T>G (p.Leu2988Arg)
c.4931T>G (p.Leu1644Arg)
n.2624T>G
c.776T>G (p.Leu259Arg)
c.2051T>G (p.Leu684Arg)
c.8951T>G (p.Leu2984Arg)
c.8948T>G (p.Leu2983Arg)
c.8960T>G (p.Leu2987Arg)
c.8939T>G (p.Leu2980Arg)
c.8594T>G (p.Leu2865Arg)
c.4940T>G (p.Leu1647Arg)
c.8834T>G (p.Leu2945Arg)
c.8825T>G (p.Leu2942Arg)
c.8840T>G (p.Leu2947Arg)
c.3137T>G (p.Leu1046Arg)
Xg.31444602A>GCA412655288DMDc.3809T>C (p.Leu1270Pro)
c.1583T>C (p.Leu528Pro)
n.2428T>C
n.2455T>C
c.818T>C (p.Leu273Pro)
c.8963T>C (p.Leu2988Pro)
c.4931T>C (p.Leu1644Pro)
n.2624T>C
c.776T>C (p.Leu259Pro)
c.2051T>C (p.Leu684Pro)
c.8951T>C (p.Leu2984Pro)
c.8948T>C (p.Leu2983Pro)
c.8960T>C (p.Leu2987Pro)
c.8939T>C (p.Leu2980Pro)
c.8594T>C (p.Leu2865Pro)
c.4940T>C (p.Leu1647Pro)
c.8834T>C (p.Leu2945Pro)
c.8825T>C (p.Leu2942Pro)
c.8840T>C (p.Leu2947Pro)
c.3137T>C (p.Leu1046Pro)
 ClinVar dbSNP
Xg.31444602A>TCA412655289DMDc.3809T>A (p.Leu1270Gln)
c.1583T>A (p.Leu528Gln)
n.2428T>A
n.2455T>A
c.818T>A (p.Leu273Gln)
c.8963T>A (p.Leu2988Gln)
c.4931T>A (p.Leu1644Gln)
n.2624T>A
c.776T>A (p.Leu259Gln)
c.2051T>A (p.Leu684Gln)
c.8951T>A (p.Leu2984Gln)
c.8948T>A (p.Leu2983Gln)
c.8960T>A (p.Leu2987Gln)
c.8939T>A (p.Leu2980Gln)
c.8594T>A (p.Leu2865Gln)
c.4940T>A (p.Leu1647Gln)
c.8834T>A (p.Leu2945Gln)
c.8825T>A (p.Leu2942Gln)
c.8840T>A (p.Leu2947Gln)
c.3137T>A (p.Leu1046Gln)
Xg.31444603G>ACA515858299DMDc.3808C>T (p.Leu1270=)
c.1582C>T (p.Leu528=)
n.2427C>T
n.2454C>T
c.817C>T (p.Leu273=)
c.8962C>T (p.Leu2988=)
c.4930C>T (p.Leu1644=)
n.2623C>T
c.775C>T (p.Leu259=)
c.2050C>T (p.Leu684=)
c.8950C>T (p.Leu2984=)
c.8947C>T (p.Leu2983=)
c.8959C>T (p.Leu2987=)
c.8938C>T (p.Leu2980=)
c.8593C>T (p.Leu2865=)
c.4939C>T (p.Leu1647=)
c.8833C>T (p.Leu2945=)
c.8824C>T (p.Leu2942=)
c.8839C>T (p.Leu2947=)
c.3136C>T (p.Leu1046=)
 gnomAD v4
Xg.31444603G>CCA412655290DMDc.3808C>G (p.Leu1270Val)
c.1582C>G (p.Leu528Val)
n.2427C>G
n.2454C>G
c.817C>G (p.Leu273Val)
c.8962C>G (p.Leu2988Val)
c.4930C>G (p.Leu1644Val)
n.2623C>G
c.775C>G (p.Leu259Val)
c.2050C>G (p.Leu684Val)
c.8950C>G (p.Leu2984Val)
c.8947C>G (p.Leu2983Val)
c.8959C>G (p.Leu2987Val)
c.8938C>G (p.Leu2980Val)
c.8593C>G (p.Leu2865Val)
c.4939C>G (p.Leu1647Val)
c.8833C>G (p.Leu2945Val)
c.8824C>G (p.Leu2942Val)
c.8839C>G (p.Leu2947Val)
c.3136C>G (p.Leu1046Val)
Xg.31444603G>TCA412655291DMDc.3808C>A (p.Leu1270Met)
c.1582C>A (p.Leu528Met)
n.2427C>A
n.2454C>A
c.817C>A (p.Leu273Met)
c.8962C>A (p.Leu2988Met)
c.4930C>A (p.Leu1644Met)
n.2623C>A
c.775C>A (p.Leu259Met)
c.2050C>A (p.Leu684Met)
c.8950C>A (p.Leu2984Met)
c.8947C>A (p.Leu2983Met)
c.8959C>A (p.Leu2987Met)
c.8938C>A (p.Leu2980Met)
c.8593C>A (p.Leu2865Met)
c.4939C>A (p.Leu1647Met)
c.8833C>A (p.Leu2945Met)
c.8824C>A (p.Leu2942Met)
c.8839C>A (p.Leu2947Met)
c.3136C>A (p.Leu1046Met)
Xg.31444604A>CCA515858301DMDc.3807T>G (p.Pro1269=)
c.1581T>G (p.Pro527=)
n.2426T>G
n.2453T>G
c.816T>G (p.Pro272=)
c.8961T>G (p.Pro2987=)
c.4929T>G (p.Pro1643=)
n.2622T>G
c.774T>G (p.Pro258=)
c.2049T>G (p.Pro683=)
c.8949T>G (p.Pro2983=)
c.8946T>G (p.Pro2982=)
c.8958T>G (p.Pro2986=)
c.8937T>G (p.Pro2979=)
c.8592T>G (p.Pro2864=)
c.4938T>G (p.Pro1646=)
c.8832T>G (p.Pro2944=)
c.8823T>G (p.Pro2941=)
c.8838T>G (p.Pro2946=)
c.3135T>G (p.Pro1045=)
Xg.31444604A>GCA515858302DMDc.3807T>C (p.Pro1269=)
c.1581T>C (p.Pro527=)
n.2426T>C
n.2453T>C
c.816T>C (p.Pro272=)
c.8961T>C (p.Pro2987=)
c.4929T>C (p.Pro1643=)
n.2622T>C
c.774T>C (p.Pro258=)
c.2049T>C (p.Pro683=)
c.8949T>C (p.Pro2983=)
c.8946T>C (p.Pro2982=)
c.8958T>C (p.Pro2986=)
c.8937T>C (p.Pro2979=)
c.8592T>C (p.Pro2864=)
c.4938T>C (p.Pro1646=)
c.8832T>C (p.Pro2944=)
c.8823T>C (p.Pro2941=)
c.8838T>C (p.Pro2946=)
c.3135T>C (p.Pro1045=)
Xg.31444604A>TCA515858300DMDc.3807T>A (p.Pro1269=)
c.1581T>A (p.Pro527=)
n.2426T>A
n.2453T>A
c.816T>A (p.Pro272=)
c.8961T>A (p.Pro2987=)
c.4929T>A (p.Pro1643=)
n.2622T>A
c.774T>A (p.Pro258=)
c.2049T>A (p.Pro683=)
c.8949T>A (p.Pro2983=)
c.8946T>A (p.Pro2982=)
c.8958T>A (p.Pro2986=)
c.8937T>A (p.Pro2979=)
c.8592T>A (p.Pro2864=)
c.4938T>A (p.Pro1646=)
c.8832T>A (p.Pro2944=)
c.8823T>A (p.Pro2941=)
c.8838T>A (p.Pro2946=)
c.3135T>A (p.Pro1045=)
Xg.31444605G>ACA412655292DMDc.3806C>T (p.Pro1269Leu)
c.1580C>T (p.Pro527Leu)
n.2425C>T
n.2452C>T
c.815C>T (p.Pro272Leu)
c.8960C>T (p.Pro2987Leu)
c.4928C>T (p.Pro1643Leu)
n.2621C>T
c.773C>T (p.Pro258Leu)
c.2048C>T (p.Pro683Leu)
c.8948C>T (p.Pro2983Leu)
c.8945C>T (p.Pro2982Leu)
c.8957C>T (p.Pro2986Leu)
c.8936C>T (p.Pro2979Leu)
c.8591C>T (p.Pro2864Leu)
c.4937C>T (p.Pro1646Leu)
c.8831C>T (p.Pro2944Leu)
c.8822C>T (p.Pro2941Leu)
c.8837C>T (p.Pro2946Leu)
c.3134C>T (p.Pro1045Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31444605G>CCA412655293DMDc.3806C>G (p.Pro1269Arg)
c.1580C>G (p.Pro527Arg)
n.2425C>G
n.2452C>G
c.815C>G (p.Pro272Arg)
c.8960C>G (p.Pro2987Arg)
c.4928C>G (p.Pro1643Arg)
n.2621C>G
c.773C>G (p.Pro258Arg)
c.2048C>G (p.Pro683Arg)
c.8948C>G (p.Pro2983Arg)
c.8945C>G (p.Pro2982Arg)
c.8957C>G (p.Pro2986Arg)
c.8936C>G (p.Pro2979Arg)
c.8591C>G (p.Pro2864Arg)
c.4937C>G (p.Pro1646Arg)
c.8831C>G (p.Pro2944Arg)
c.8822C>G (p.Pro2941Arg)
c.8837C>G (p.Pro2946Arg)
c.3134C>G (p.Pro1045Arg)
 gnomAD v4
Xg.31444605G>TCA412655294DMDc.3806C>A (p.Pro1269His)
c.1580C>A (p.Pro527His)
n.2425C>A
n.2452C>A
c.815C>A (p.Pro272His)
c.8960C>A (p.Pro2987His)
c.4928C>A (p.Pro1643His)
n.2621C>A
c.773C>A (p.Pro258His)
c.2048C>A (p.Pro683His)
c.8948C>A (p.Pro2983His)
c.8945C>A (p.Pro2982His)
c.8957C>A (p.Pro2986His)
c.8936C>A (p.Pro2979His)
c.8591C>A (p.Pro2864His)
c.4937C>A (p.Pro1646His)
c.8831C>A (p.Pro2944His)
c.8822C>A (p.Pro2941His)
c.8837C>A (p.Pro2946His)
c.3134C>A (p.Pro1045His)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444606G>ACA10377944DMDc.3805C>T (p.Pro1269Ser)
c.1579C>T (p.Pro527Ser)
n.2424C>T
n.2451C>T
c.814C>T (p.Pro272Ser)
c.8959C>T (p.Pro2987Ser)
c.4927C>T (p.Pro1643Ser)
n.2620C>T
c.772C>T (p.Pro258Ser)
c.2047C>T (p.Pro683Ser)
c.8947C>T (p.Pro2983Ser)
c.8944C>T (p.Pro2982Ser)
c.8956C>T (p.Pro2986Ser)
c.8935C>T (p.Pro2979Ser)
c.8590C>T (p.Pro2864Ser)
c.4936C>T (p.Pro1646Ser)
c.8830C>T (p.Pro2944Ser)
c.8821C>T (p.Pro2941Ser)
c.8836C>T (p.Pro2946Ser)
c.3133C>T (p.Pro1045Ser)
 dbSNP ExAC
Xg.31444606G>CCA412655296DMDc.3805C>G (p.Pro1269Ala)
c.1579C>G (p.Pro527Ala)
n.2424C>G
n.2451C>G
c.814C>G (p.Pro272Ala)
c.8959C>G (p.Pro2987Ala)
c.4927C>G (p.Pro1643Ala)
n.2620C>G
c.772C>G (p.Pro258Ala)
c.2047C>G (p.Pro683Ala)
c.8947C>G (p.Pro2983Ala)
c.8944C>G (p.Pro2982Ala)
c.8956C>G (p.Pro2986Ala)
c.8935C>G (p.Pro2979Ala)
c.8590C>G (p.Pro2864Ala)
c.4936C>G (p.Pro1646Ala)
c.8830C>G (p.Pro2944Ala)
c.8821C>G (p.Pro2941Ala)
c.8836C>G (p.Pro2946Ala)
c.3133C>G (p.Pro1045Ala)
Xg.31444606G=CA2422434075DMDc.3805C= (p.Pro1269=)
c.1579C= (p.Pro527=)
n.2424C=
n.2451C=
c.814C= (p.Pro272=)
c.8959C= (p.Pro2987=)
c.4927C= (p.Pro1643=)
n.2620C=
c.772C= (p.Pro258=)
c.2047C= (p.Pro683=)
c.8947C= (p.Pro2983=)
c.8944C= (p.Pro2982=)
c.8956C= (p.Pro2986=)
c.8935C= (p.Pro2979=)
c.8590C= (p.Pro2864=)
c.4936C= (p.Pro1646=)
c.8830C= (p.Pro2944=)
c.8821C= (p.Pro2941=)
c.8836C= (p.Pro2946=)
c.3133C= (p.Pro1045=)
Xg.31444606G>TCA412655295DMDc.3805C>A (p.Pro1269Thr)
c.1579C>A (p.Pro527Thr)
n.2424C>A
n.2451C>A
c.814C>A (p.Pro272Thr)
c.8959C>A (p.Pro2987Thr)
c.4927C>A (p.Pro1643Thr)
n.2620C>A
c.772C>A (p.Pro258Thr)
c.2047C>A (p.Pro683Thr)
c.8947C>A (p.Pro2983Thr)
c.8944C>A (p.Pro2982Thr)
c.8956C>A (p.Pro2986Thr)
c.8935C>A (p.Pro2979Thr)
c.8590C>A (p.Pro2864Thr)
c.4936C>A (p.Pro1646Thr)
c.8830C>A (p.Pro2944Thr)
c.8821C>A (p.Pro2941Thr)
c.8836C>A (p.Pro2946Thr)
c.3133C>A (p.Pro1045Thr)
Xg.31444607C>ACA515858306DMDc.3804G>T (p.Ala1268=)
c.1578G>T (p.Ala526=)
n.2423G>T
n.2450G>T
c.813G>T (p.Ala271=)
c.8958G>T (p.Ala2986=)
c.4926G>T (p.Ala1642=)
n.2619G>T
c.771G>T (p.Ala257=)
c.2046G>T (p.Ala682=)
c.8946G>T (p.Ala2982=)
c.8943G>T (p.Ala2981=)
c.8955G>T (p.Ala2985=)
c.8934G>T (p.Ala2978=)
c.8589G>T (p.Ala2863=)
c.4935G>T (p.Ala1645=)
c.8829G>T (p.Ala2943=)
c.8820G>T (p.Ala2940=)
c.8835G>T (p.Ala2945=)
c.3132G>T (p.Ala1044=)
 ClinVar dbSNP
Xg.31444607C=CA2422434076DMDc.3804G= (p.Ala1268=)
c.1578G= (p.Ala526=)
n.2423G=
n.2450G=
c.813G= (p.Ala271=)
c.8958G= (p.Ala2986=)
c.4926G= (p.Ala1642=)
n.2619G=
c.771G= (p.Ala257=)
c.2046G= (p.Ala682=)
c.8946G= (p.Ala2982=)
c.8943G= (p.Ala2981=)
c.8955G= (p.Ala2985=)
c.8934G= (p.Ala2978=)
c.8589G= (p.Ala2863=)
c.4935G= (p.Ala1645=)
c.8829G= (p.Ala2943=)
c.8820G= (p.Ala2940=)
c.8835G= (p.Ala2945=)
c.3132G= (p.Ala1044=)
Xg.31444607C>GCA515858307DMDc.3804G>C (p.Ala1268=)
c.1578G>C (p.Ala526=)
n.2423G>C
n.2450G>C
c.813G>C (p.Ala271=)
c.8958G>C (p.Ala2986=)
c.4926G>C (p.Ala1642=)
n.2619G>C
c.771G>C (p.Ala257=)
c.2046G>C (p.Ala682=)
c.8946G>C (p.Ala2982=)
c.8943G>C (p.Ala2981=)
c.8955G>C (p.Ala2985=)
c.8934G>C (p.Ala2978=)
c.8589G>C (p.Ala2863=)
c.4935G>C (p.Ala1645=)
c.8829G>C (p.Ala2943=)
c.8820G>C (p.Ala2940=)
c.8835G>C (p.Ala2945=)
c.3132G>C (p.Ala1044=)
Xg.31444607C>TCA10377945DMDc.3804G>A (p.Ala1268=)
c.1578G>A (p.Ala526=)
n.2423G>A
n.2450G>A
c.813G>A (p.Ala271=)
c.8958G>A (p.Ala2986=)
c.4926G>A (p.Ala1642=)
n.2619G>A
c.771G>A (p.Ala257=)
c.2046G>A (p.Ala682=)
c.8946G>A (p.Ala2982=)
c.8943G>A (p.Ala2981=)
c.8955G>A (p.Ala2985=)
c.8934G>A (p.Ala2978=)
c.8589G>A (p.Ala2863=)
c.4935G>A (p.Ala1645=)
c.8829G>A (p.Ala2943=)
c.8820G>A (p.Ala2940=)
c.8835G>A (p.Ala2945=)
c.3132G>A (p.Ala1044=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444608G>ACA10377946DMDc.3803C>T (p.Ala1268Val)
c.1577C>T (p.Ala526Val)
n.2422C>T
n.2449C>T
c.812C>T (p.Ala271Val)
c.8957C>T (p.Ala2986Val)
c.4925C>T (p.Ala1642Val)
n.2618C>T
c.770C>T (p.Ala257Val)
c.2045C>T (p.Ala682Val)
c.8945C>T (p.Ala2982Val)
c.8942C>T (p.Ala2981Val)
c.8954C>T (p.Ala2985Val)
c.8933C>T (p.Ala2978Val)
c.8588C>T (p.Ala2863Val)
c.4934C>T (p.Ala1645Val)
c.8828C>T (p.Ala2943Val)
c.8819C>T (p.Ala2940Val)
c.8834C>T (p.Ala2945Val)
c.3131C>T (p.Ala1044Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444608G>CCA412655297DMDc.3803C>G (p.Ala1268Gly)
c.1577C>G (p.Ala526Gly)
n.2422C>G
n.2449C>G
c.812C>G (p.Ala271Gly)
c.8957C>G (p.Ala2986Gly)
c.4925C>G (p.Ala1642Gly)
n.2618C>G
c.770C>G (p.Ala257Gly)
c.2045C>G (p.Ala682Gly)
c.8945C>G (p.Ala2982Gly)
c.8942C>G (p.Ala2981Gly)
c.8954C>G (p.Ala2985Gly)
c.8933C>G (p.Ala2978Gly)
c.8588C>G (p.Ala2863Gly)
c.4934C>G (p.Ala1645Gly)
c.8828C>G (p.Ala2943Gly)
c.8819C>G (p.Ala2940Gly)
c.8834C>G (p.Ala2945Gly)
c.3131C>G (p.Ala1044Gly)
 gnomAD v4
Xg.31444608G=CA2422434077DMDc.3803C= (p.Ala1268=)
c.1577C= (p.Ala526=)
n.2422C=
n.2449C=
c.812C= (p.Ala271=)
c.8957C= (p.Ala2986=)
c.4925C= (p.Ala1642=)
n.2618C=
c.770C= (p.Ala257=)
c.2045C= (p.Ala682=)
c.8945C= (p.Ala2982=)
c.8942C= (p.Ala2981=)
c.8954C= (p.Ala2985=)
c.8933C= (p.Ala2978=)
c.8588C= (p.Ala2863=)
c.4934C= (p.Ala1645=)
c.8828C= (p.Ala2943=)
c.8819C= (p.Ala2940=)
c.8834C= (p.Ala2945=)
c.3131C= (p.Ala1044=)
Xg.31444608G>TCA412655298DMDc.3803C>A (p.Ala1268Glu)
c.1577C>A (p.Ala526Glu)
n.2422C>A
n.2449C>A
c.812C>A (p.Ala271Glu)
c.8957C>A (p.Ala2986Glu)
c.4925C>A (p.Ala1642Glu)
n.2618C>A
c.770C>A (p.Ala257Glu)
c.2045C>A (p.Ala682Glu)
c.8945C>A (p.Ala2982Glu)
c.8942C>A (p.Ala2981Glu)
c.8954C>A (p.Ala2985Glu)
c.8933C>A (p.Ala2978Glu)
c.8588C>A (p.Ala2863Glu)
c.4934C>A (p.Ala1645Glu)
c.8828C>A (p.Ala2943Glu)
c.8819C>A (p.Ala2940Glu)
c.8834C>A (p.Ala2945Glu)
c.3131C>A (p.Ala1044Glu)
 gnomAD v4
Xg.31444609C>ACA412655299DMDc.3802G>T (p.Ala1268Ser)
c.1576G>T (p.Ala526Ser)
n.2421G>T
n.2448G>T
c.811G>T (p.Ala271Ser)
c.8956G>T (p.Ala2986Ser)
c.4924G>T (p.Ala1642Ser)
n.2617G>T
c.769G>T (p.Ala257Ser)
c.2044G>T (p.Ala682Ser)
c.8944G>T (p.Ala2982Ser)
c.8941G>T (p.Ala2981Ser)
c.8953G>T (p.Ala2985Ser)
c.8932G>T (p.Ala2978Ser)
c.8587G>T (p.Ala2863Ser)
c.4933G>T (p.Ala1645Ser)
c.8827G>T (p.Ala2943Ser)
c.8818G>T (p.Ala2940Ser)
c.8833G>T (p.Ala2945Ser)
c.3130G>T (p.Ala1044Ser)
Xg.31444609C>GCA412655300DMDc.3802G>C (p.Ala1268Pro)
c.1576G>C (p.Ala526Pro)
n.2421G>C
n.2448G>C
c.811G>C (p.Ala271Pro)
c.8956G>C (p.Ala2986Pro)
c.4924G>C (p.Ala1642Pro)
n.2617G>C
c.769G>C (p.Ala257Pro)
c.2044G>C (p.Ala682Pro)
c.8944G>C (p.Ala2982Pro)
c.8941G>C (p.Ala2981Pro)
c.8953G>C (p.Ala2985Pro)
c.8932G>C (p.Ala2978Pro)
c.8587G>C (p.Ala2863Pro)
c.4933G>C (p.Ala1645Pro)
c.8827G>C (p.Ala2943Pro)
c.8818G>C (p.Ala2940Pro)
c.8833G>C (p.Ala2945Pro)
c.3130G>C (p.Ala1044Pro)
Xg.31444609C>TCA412655301DMDc.3802G>A (p.Ala1268Thr)
c.1576G>A (p.Ala526Thr)
n.2421G>A
n.2448G>A
c.811G>A (p.Ala271Thr)
c.8956G>A (p.Ala2986Thr)
c.4924G>A (p.Ala1642Thr)
n.2617G>A
c.769G>A (p.Ala257Thr)
c.2044G>A (p.Ala682Thr)
c.8944G>A (p.Ala2982Thr)
c.8941G>A (p.Ala2981Thr)
c.8953G>A (p.Ala2985Thr)
c.8932G>A (p.Ala2978Thr)
c.8587G>A (p.Ala2863Thr)
c.4933G>A (p.Ala1645Thr)
c.8827G>A (p.Ala2943Thr)
c.8818G>A (p.Ala2940Thr)
c.8833G>A (p.Ala2945Thr)
c.3130G>A (p.Ala1044Thr)
 gnomAD v4
Xg.31444610A>CCA412655302DMDc.3801T>G (p.Ile1267Met)
c.1575T>G (p.Ile525Met)
n.2420T>G
n.2447T>G
c.810T>G (p.Ile270Met)
c.8955T>G (p.Ile2985Met)
c.4923T>G (p.Ile1641Met)
n.2616T>G
c.768T>G (p.Ile256Met)
c.2043T>G (p.Ile681Met)
c.8943T>G (p.Ile2981Met)
c.8940T>G (p.Ile2980Met)
c.8952T>G (p.Ile2984Met)
c.8931T>G (p.Ile2977Met)
c.8586T>G (p.Ile2862Met)
c.4932T>G (p.Ile1644Met)
c.8826T>G (p.Ile2942Met)
c.8817T>G (p.Ile2939Met)
c.8832T>G (p.Ile2944Met)
c.3129T>G (p.Ile1043Met)
Xg.31444610A>GCA515858309DMDc.3801T>C (p.Ile1267=)
c.1575T>C (p.Ile525=)
n.2420T>C
n.2447T>C
c.810T>C (p.Ile270=)
c.8955T>C (p.Ile2985=)
c.4923T>C (p.Ile1641=)
n.2616T>C
c.768T>C (p.Ile256=)
c.2043T>C (p.Ile681=)
c.8943T>C (p.Ile2981=)
c.8940T>C (p.Ile2980=)
c.8952T>C (p.Ile2984=)
c.8931T>C (p.Ile2977=)
c.8586T>C (p.Ile2862=)
c.4932T>C (p.Ile1644=)
c.8826T>C (p.Ile2942=)
c.8817T>C (p.Ile2939=)
c.8832T>C (p.Ile2944=)
c.3129T>C (p.Ile1043=)
Xg.31444610A>TCA515858310DMDc.3801T>A (p.Ile1267=)
c.1575T>A (p.Ile525=)
n.2420T>A
n.2447T>A
c.810T>A (p.Ile270=)
c.8955T>A (p.Ile2985=)
c.4923T>A (p.Ile1641=)
n.2616T>A
c.768T>A (p.Ile256=)
c.2043T>A (p.Ile681=)
c.8943T>A (p.Ile2981=)
c.8940T>A (p.Ile2980=)
c.8952T>A (p.Ile2984=)
c.8931T>A (p.Ile2977=)
c.8586T>A (p.Ile2862=)
c.4932T>A (p.Ile1644=)
c.8826T>A (p.Ile2942=)
c.8817T>A (p.Ile2939=)
c.8832T>A (p.Ile2944=)
c.3129T>A (p.Ile1043=)
Xg.31444611dupCA2573055261DMDc.3801dup (p.Ala1268CysfsTer12)
c.1575dup (p.Ala526CysfsTer12)
n.2420dup
n.2447dup
c.810dup (p.Ala271CysfsTer12)
c.8955dup (p.Ala2986CysfsTer12)
c.4923dup (p.Ala1642CysfsTer12)
n.2616dup
c.768dup (p.Ala257CysfsTer12)
c.2043dup (p.Ala682CysfsTer12)
c.8943dup (p.Ala2982CysfsTer12)
c.8940dup (p.Ala2981CysfsTer12)
c.8952dup (p.Ala2985CysfsTer12)
c.8931dup (p.Ala2978CysfsTer12)
c.8586dup (p.Ala2863CysfsTer12)
c.4932dup (p.Ala1645CysfsTer12)
c.8826dup (p.Ala2943CysfsTer12)
c.8817dup (p.Ala2940CysfsTer12)
c.8832dup (p.Ala2945CysfsTer12)
c.3129dup (p.Ala1044CysfsTer12)
 dbSNP
Xg.31444611A=CA2422434078DMDc.3800T= (p.Ile1267=)
c.1574T= (p.Ile525=)
n.2419T=
n.2446T=
c.809T= (p.Ile270=)
c.8954T= (p.Ile2985=)
c.4922T= (p.Ile1641=)
n.2615T=
c.767T= (p.Ile256=)
c.2042T= (p.Ile681=)
c.8942T= (p.Ile2981=)
c.8939T= (p.Ile2980=)
c.8951T= (p.Ile2984=)
c.8930T= (p.Ile2977=)
c.8585T= (p.Ile2862=)
c.4931T= (p.Ile1644=)
c.8825T= (p.Ile2942=)
c.8816T= (p.Ile2939=)
c.8831T= (p.Ile2944=)
c.3128T= (p.Ile1043=)
Xg.31444611A>CCA412655303DMDc.3800T>G (p.Ile1267Ser)
c.1574T>G (p.Ile525Ser)
n.2419T>G
n.2446T>G
c.809T>G (p.Ile270Ser)
c.8954T>G (p.Ile2985Ser)
c.4922T>G (p.Ile1641Ser)
n.2615T>G
c.767T>G (p.Ile256Ser)
c.2042T>G (p.Ile681Ser)
c.8942T>G (p.Ile2981Ser)
c.8939T>G (p.Ile2980Ser)
c.8951T>G (p.Ile2984Ser)
c.8930T>G (p.Ile2977Ser)
c.8585T>G (p.Ile2862Ser)
c.4931T>G (p.Ile1644Ser)
c.8825T>G (p.Ile2942Ser)
c.8816T>G (p.Ile2939Ser)
c.8831T>G (p.Ile2944Ser)
c.3128T>G (p.Ile1043Ser)
Xg.31444611A>GCA328429792DMDc.3800T>C (p.Ile1267Thr)
c.1574T>C (p.Ile525Thr)
n.2419T>C
n.2446T>C
c.809T>C (p.Ile270Thr)
c.8954T>C (p.Ile2985Thr)
c.4922T>C (p.Ile1641Thr)
n.2615T>C
c.767T>C (p.Ile256Thr)
c.2042T>C (p.Ile681Thr)
c.8942T>C (p.Ile2981Thr)
c.8939T>C (p.Ile2980Thr)
c.8951T>C (p.Ile2984Thr)
c.8930T>C (p.Ile2977Thr)
c.8585T>C (p.Ile2862Thr)
c.4931T>C (p.Ile1644Thr)
c.8825T>C (p.Ile2942Thr)
c.8816T>C (p.Ile2939Thr)
c.8831T>C (p.Ile2944Thr)
c.3128T>C (p.Ile1043Thr)
 dbSNP gnomAD v4
Xg.31444611A>TCA412655304DMDc.3800T>A (p.Ile1267Asn)
c.1574T>A (p.Ile525Asn)
n.2419T>A
n.2446T>A
c.809T>A (p.Ile270Asn)
c.8954T>A (p.Ile2985Asn)
c.4922T>A (p.Ile1641Asn)
n.2615T>A
c.767T>A (p.Ile256Asn)
c.2042T>A (p.Ile681Asn)
c.8942T>A (p.Ile2981Asn)
c.8939T>A (p.Ile2980Asn)
c.8951T>A (p.Ile2984Asn)
c.8930T>A (p.Ile2977Asn)
c.8585T>A (p.Ile2862Asn)
c.4931T>A (p.Ile1644Asn)
c.8825T>A (p.Ile2942Asn)
c.8816T>A (p.Ile2939Asn)
c.8831T>A (p.Ile2944Asn)
c.3128T>A (p.Ile1043Asn)
Xg.31444612T>ACA412655307DMDc.3799A>T (p.Ile1267Phe)
c.1573A>T (p.Ile525Phe)
n.2418A>T
n.2445A>T
c.808A>T (p.Ile270Phe)
c.8953A>T (p.Ile2985Phe)
c.4921A>T (p.Ile1641Phe)
n.2614A>T
c.766A>T (p.Ile256Phe)
c.2041A>T (p.Ile681Phe)
c.8941A>T (p.Ile2981Phe)
c.8938A>T (p.Ile2980Phe)
c.8950A>T (p.Ile2984Phe)
c.8929A>T (p.Ile2977Phe)
c.8584A>T (p.Ile2862Phe)
c.4930A>T (p.Ile1644Phe)
c.8824A>T (p.Ile2942Phe)
c.8815A>T (p.Ile2939Phe)
c.8830A>T (p.Ile2944Phe)
c.3127A>T (p.Ile1043Phe)
Xg.31444612T>CCA412655306DMDc.3799A>G (p.Ile1267Val)
c.1573A>G (p.Ile525Val)
n.2418A>G
n.2445A>G
c.808A>G (p.Ile270Val)
c.8953A>G (p.Ile2985Val)
c.4921A>G (p.Ile1641Val)
n.2614A>G
c.766A>G (p.Ile256Val)
c.2041A>G (p.Ile681Val)
c.8941A>G (p.Ile2981Val)
c.8938A>G (p.Ile2980Val)
c.8950A>G (p.Ile2984Val)
c.8929A>G (p.Ile2977Val)
c.8584A>G (p.Ile2862Val)
c.4930A>G (p.Ile1644Val)
c.8824A>G (p.Ile2942Val)
c.8815A>G (p.Ile2939Val)
c.8830A>G (p.Ile2944Val)
c.3127A>G (p.Ile1043Val)
Xg.31444612T>GCA412655305DMDc.3799A>C (p.Ile1267Leu)
c.1573A>C (p.Ile525Leu)
n.2418A>C
n.2445A>C
c.808A>C (p.Ile270Leu)
c.8953A>C (p.Ile2985Leu)
c.4921A>C (p.Ile1641Leu)
n.2614A>C
c.766A>C (p.Ile256Leu)
c.2041A>C (p.Ile681Leu)
c.8941A>C (p.Ile2981Leu)
c.8938A>C (p.Ile2980Leu)
c.8950A>C (p.Ile2984Leu)
c.8929A>C (p.Ile2977Leu)
c.8584A>C (p.Ile2862Leu)
c.4930A>C (p.Ile1644Leu)
c.8824A>C (p.Ile2942Leu)
c.8815A>C (p.Ile2939Leu)
c.8830A>C (p.Ile2944Leu)
c.3127A>C (p.Ile1043Leu)
Xg.31444613T>ACA412655308DMDc.3798A>T (p.Glu1266Asp)
c.1572A>T (p.Glu524Asp)
n.2417A>T
n.2444A>T
c.807A>T (p.Glu269Asp)
c.8952A>T (p.Glu2984Asp)
c.4920A>T (p.Glu1640Asp)
n.2613A>T
c.765A>T (p.Glu255Asp)
c.2040A>T (p.Glu680Asp)
c.8940A>T (p.Glu2980Asp)
c.8937A>T (p.Glu2979Asp)
c.8949A>T (p.Glu2983Asp)
c.8928A>T (p.Glu2976Asp)
c.8583A>T (p.Glu2861Asp)
c.4929A>T (p.Glu1643Asp)
c.8823A>T (p.Glu2941Asp)
c.8814A>T (p.Glu2938Asp)
c.8829A>T (p.Glu2943Asp)
c.3126A>T (p.Glu1042Asp)
Xg.31444613T>CCA515858313DMDc.3798A>G (p.Glu1266=)
c.1572A>G (p.Glu524=)
n.2417A>G
n.2444A>G
c.807A>G (p.Glu269=)
c.8952A>G (p.Glu2984=)
c.4920A>G (p.Glu1640=)
n.2613A>G
c.765A>G (p.Glu255=)
c.2040A>G (p.Glu680=)
c.8940A>G (p.Glu2980=)
c.8937A>G (p.Glu2979=)
c.8949A>G (p.Glu2983=)
c.8928A>G (p.Glu2976=)
c.8583A>G (p.Glu2861=)
c.4929A>G (p.Glu1643=)
c.8823A>G (p.Glu2941=)
c.8814A>G (p.Glu2938=)
c.8829A>G (p.Glu2943=)
c.3126A>G (p.Glu1042=)
Xg.31444613T>GCA412655309DMDc.3798A>C (p.Glu1266Asp)
c.1572A>C (p.Glu524Asp)
n.2417A>C
n.2444A>C
c.807A>C (p.Glu269Asp)
c.8952A>C (p.Glu2984Asp)
c.4920A>C (p.Glu1640Asp)
n.2613A>C
c.765A>C (p.Glu255Asp)
c.2040A>C (p.Glu680Asp)
c.8940A>C (p.Glu2980Asp)
c.8937A>C (p.Glu2979Asp)
c.8949A>C (p.Glu2983Asp)
c.8928A>C (p.Glu2976Asp)
c.8583A>C (p.Glu2861Asp)
c.4929A>C (p.Glu1643Asp)
c.8823A>C (p.Glu2941Asp)
c.8814A>C (p.Glu2938Asp)
c.8829A>C (p.Glu2943Asp)
c.3126A>C (p.Glu1042Asp)
Xg.31444614T>ACA412655310DMDc.3797A>T (p.Glu1266Val)
c.1571A>T (p.Glu524Val)
n.2416A>T
n.2443A>T
c.806A>T (p.Glu269Val)
c.8951A>T (p.Glu2984Val)
c.4919A>T (p.Glu1640Val)
n.2612A>T
c.764A>T (p.Glu255Val)
c.2039A>T (p.Glu680Val)
c.8939A>T (p.Glu2980Val)
c.8936A>T (p.Glu2979Val)
c.8948A>T (p.Glu2983Val)
c.8927A>T (p.Glu2976Val)
c.8582A>T (p.Glu2861Val)
c.4928A>T (p.Glu1643Val)
c.8822A>T (p.Glu2941Val)
c.8813A>T (p.Glu2938Val)
c.8828A>T (p.Glu2943Val)
c.3125A>T (p.Glu1042Val)
Xg.31444614T>CCA412655311DMDc.3797A>G (p.Glu1266Gly)
c.1571A>G (p.Glu524Gly)
n.2416A>G
n.2443A>G
c.806A>G (p.Glu269Gly)
c.8951A>G (p.Glu2984Gly)
c.4919A>G (p.Glu1640Gly)
n.2612A>G
c.764A>G (p.Glu255Gly)
c.2039A>G (p.Glu680Gly)
c.8939A>G (p.Glu2980Gly)
c.8936A>G (p.Glu2979Gly)
c.8948A>G (p.Glu2983Gly)
c.8927A>G (p.Glu2976Gly)
c.8582A>G (p.Glu2861Gly)
c.4928A>G (p.Glu1643Gly)
c.8822A>G (p.Glu2941Gly)
c.8813A>G (p.Glu2938Gly)
c.8828A>G (p.Glu2943Gly)
c.3125A>G (p.Glu1042Gly)
Xg.31444614T>GCA412655312DMDc.3797A>C (p.Glu1266Ala)
c.1571A>C (p.Glu524Ala)
n.2416A>C
n.2443A>C
c.806A>C (p.Glu269Ala)
c.8951A>C (p.Glu2984Ala)
c.4919A>C (p.Glu1640Ala)
n.2612A>C
c.764A>C (p.Glu255Ala)
c.2039A>C (p.Glu680Ala)
c.8939A>C (p.Glu2980Ala)
c.8936A>C (p.Glu2979Ala)
c.8948A>C (p.Glu2983Ala)
c.8927A>C (p.Glu2976Ala)
c.8582A>C (p.Glu2861Ala)
c.4928A>C (p.Glu1643Ala)
c.8822A>C (p.Glu2941Ala)
c.8813A>C (p.Glu2938Ala)
c.8828A>C (p.Glu2943Ala)
c.3125A>C (p.Glu1042Ala)
Xg.31444615C>ACA412655313DMDc.3796G>T (p.Glu1266Ter)
c.1570G>T (p.Glu524Ter)
n.2415G>T
n.2442G>T
c.805G>T (p.Glu269Ter)
c.8950G>T (p.Glu2984Ter)
c.4918G>T (p.Glu1640Ter)
n.2611G>T
c.763G>T (p.Glu255Ter)
c.2038G>T (p.Glu680Ter)
c.8938G>T (p.Glu2980Ter)
c.8935G>T (p.Glu2979Ter)
c.8947G>T (p.Glu2983Ter)
c.8926G>T (p.Glu2976Ter)
c.8581G>T (p.Glu2861Ter)
c.4927G>T (p.Glu1643Ter)
c.8821G>T (p.Glu2941Ter)
c.8812G>T (p.Glu2938Ter)
c.8827G>T (p.Glu2943Ter)
c.3124G>T (p.Glu1042Ter)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444615C>GCA412655314DMDc.3796G>C (p.Glu1266Gln)
c.1570G>C (p.Glu524Gln)
n.2415G>C
n.2442G>C
c.805G>C (p.Glu269Gln)
c.8950G>C (p.Glu2984Gln)
c.4918G>C (p.Glu1640Gln)
n.2611G>C
c.763G>C (p.Glu255Gln)
c.2038G>C (p.Glu680Gln)
c.8938G>C (p.Glu2980Gln)
c.8935G>C (p.Glu2979Gln)
c.8947G>C (p.Glu2983Gln)
c.8926G>C (p.Glu2976Gln)
c.8581G>C (p.Glu2861Gln)
c.4927G>C (p.Glu1643Gln)
c.8821G>C (p.Glu2941Gln)
c.8812G>C (p.Glu2938Gln)
c.8827G>C (p.Glu2943Gln)
c.3124G>C (p.Glu1042Gln)
Xg.31444615C>TCA412655315DMDc.3796G>A (p.Glu1266Lys)
c.1570G>A (p.Glu524Lys)
n.2415G>A
n.2442G>A
c.805G>A (p.Glu269Lys)
c.8950G>A (p.Glu2984Lys)
c.4918G>A (p.Glu1640Lys)
n.2611G>A
c.763G>A (p.Glu255Lys)
c.2038G>A (p.Glu680Lys)
c.8938G>A (p.Glu2980Lys)
c.8935G>A (p.Glu2979Lys)
c.8947G>A (p.Glu2983Lys)
c.8926G>A (p.Glu2976Lys)
c.8581G>A (p.Glu2861Lys)
c.4927G>A (p.Glu1643Lys)
c.8821G>A (p.Glu2941Lys)
c.8812G>A (p.Glu2938Lys)
c.8827G>A (p.Glu2943Lys)
c.3124G>A (p.Glu1042Lys)
Xg.31444616T>ACA515858316DMDc.3795A>T (p.Gly1265=)
c.1569A>T (p.Gly523=)
n.2414A>T
n.2441A>T
c.804A>T (p.Gly268=)
c.8949A>T (p.Gly2983=)
c.4917A>T (p.Gly1639=)
n.2610A>T
c.762A>T (p.Gly254=)
c.2037A>T (p.Gly679=)
c.8937A>T (p.Gly2979=)
c.8934A>T (p.Gly2978=)
c.8946A>T (p.Gly2982=)
c.8925A>T (p.Gly2975=)
c.8580A>T (p.Gly2860=)
c.4926A>T (p.Gly1642=)
c.8820A>T (p.Gly2940=)
c.8811A>T (p.Gly2937=)
c.8826A>T (p.Gly2942=)
c.3123A>T (p.Gly1041=)
Xg.31444616T>CCA515858314DMDc.3795A>G (p.Gly1265=)
c.1569A>G (p.Gly523=)
n.2414A>G
n.2441A>G
c.804A>G (p.Gly268=)
c.8949A>G (p.Gly2983=)
c.4917A>G (p.Gly1639=)
n.2610A>G
c.762A>G (p.Gly254=)
c.2037A>G (p.Gly679=)
c.8937A>G (p.Gly2979=)
c.8934A>G (p.Gly2978=)
c.8946A>G (p.Gly2982=)
c.8925A>G (p.Gly2975=)
c.8580A>G (p.Gly2860=)
c.4926A>G (p.Gly1642=)
c.8820A>G (p.Gly2940=)
c.8811A>G (p.Gly2937=)
c.8826A>G (p.Gly2942=)
c.3123A>G (p.Gly1041=)
 ClinVar
Xg.31444616T>GCA515858315DMDc.3795A>C (p.Gly1265=)
c.1569A>C (p.Gly523=)
n.2414A>C
n.2441A>C
c.804A>C (p.Gly268=)
c.8949A>C (p.Gly2983=)
c.4917A>C (p.Gly1639=)
n.2610A>C
c.762A>C (p.Gly254=)
c.2037A>C (p.Gly679=)
c.8937A>C (p.Gly2979=)
c.8934A>C (p.Gly2978=)
c.8946A>C (p.Gly2982=)
c.8925A>C (p.Gly2975=)
c.8580A>C (p.Gly2860=)
c.4926A>C (p.Gly1642=)
c.8820A>C (p.Gly2940=)
c.8811A>C (p.Gly2937=)
c.8826A>C (p.Gly2942=)
c.3123A>C (p.Gly1041=)
Xg.31444617C>ACA412655316DMDc.3794G>T (p.Gly1265Val)
c.1568G>T (p.Gly523Val)
n.2413G>T
n.2440G>T
c.803G>T (p.Gly268Val)
c.8948G>T (p.Gly2983Val)
c.4916G>T (p.Gly1639Val)
n.2609G>T
c.761G>T (p.Gly254Val)
c.2036G>T (p.Gly679Val)
c.8936G>T (p.Gly2979Val)
c.8933G>T (p.Gly2978Val)
c.8945G>T (p.Gly2982Val)
c.8924G>T (p.Gly2975Val)
c.8579G>T (p.Gly2860Val)
c.4925G>T (p.Gly1642Val)
c.8819G>T (p.Gly2940Val)
c.8810G>T (p.Gly2937Val)
c.8825G>T (p.Gly2942Val)
c.3122G>T (p.Gly1041Val)
Xg.31444617C=CA2422434079DMDc.3794G= (p.Gly1265=)
c.1568G= (p.Gly523=)
n.2413G=
n.2440G=
c.803G= (p.Gly268=)
c.8948G= (p.Gly2983=)
c.4916G= (p.Gly1639=)
n.2609G=
c.761G= (p.Gly254=)
c.2036G= (p.Gly679=)
c.8936G= (p.Gly2979=)
c.8933G= (p.Gly2978=)
c.8945G= (p.Gly2982=)
c.8924G= (p.Gly2975=)
c.8579G= (p.Gly2860=)
c.4925G= (p.Gly1642=)
c.8819G= (p.Gly2940=)
c.8810G= (p.Gly2937=)
c.8825G= (p.Gly2942=)
c.3122G= (p.Gly1041=)
Xg.31444617C>GCA412655317DMDc.3794G>C (p.Gly1265Ala)
c.1568G>C (p.Gly523Ala)
n.2413G>C
n.2440G>C
c.803G>C (p.Gly268Ala)
c.8948G>C (p.Gly2983Ala)
c.4916G>C (p.Gly1639Ala)
n.2609G>C
c.761G>C (p.Gly254Ala)
c.2036G>C (p.Gly679Ala)
c.8936G>C (p.Gly2979Ala)
c.8933G>C (p.Gly2978Ala)
c.8945G>C (p.Gly2982Ala)
c.8924G>C (p.Gly2975Ala)
c.8579G>C (p.Gly2860Ala)
c.4925G>C (p.Gly1642Ala)
c.8819G>C (p.Gly2940Ala)
c.8810G>C (p.Gly2937Ala)
c.8825G>C (p.Gly2942Ala)
c.3122G>C (p.Gly1041Ala)
Xg.31444617C>TCA412655318DMDc.3794G>A (p.Gly1265Glu)
c.1568G>A (p.Gly523Glu)
n.2413G>A
n.2440G>A
c.803G>A (p.Gly268Glu)
c.8948G>A (p.Gly2983Glu)
c.4916G>A (p.Gly1639Glu)
n.2609G>A
c.761G>A (p.Gly254Glu)
c.2036G>A (p.Gly679Glu)
c.8936G>A (p.Gly2979Glu)
c.8933G>A (p.Gly2978Glu)
c.8945G>A (p.Gly2982Glu)
c.8924G>A (p.Gly2975Glu)
c.8579G>A (p.Gly2860Glu)
c.4925G>A (p.Gly1642Glu)
c.8819G>A (p.Gly2940Glu)
c.8810G>A (p.Gly2937Glu)
c.8825G>A (p.Gly2942Glu)
c.3122G>A (p.Gly1041Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31444618C>ACA412655321DMDc.3793G>T (p.Gly1265Ter)
c.1567G>T (p.Gly523Ter)
n.2412G>T
n.2439G>T
c.802G>T (p.Gly268Ter)
c.8947G>T (p.Gly2983Ter)
c.4915G>T (p.Gly1639Ter)
n.2608G>T
c.760G>T (p.Gly254Ter)
c.2035G>T (p.Gly679Ter)
c.8935G>T (p.Gly2979Ter)
c.8932G>T (p.Gly2978Ter)
c.8944G>T (p.Gly2982Ter)
c.8923G>T (p.Gly2975Ter)
c.8578G>T (p.Gly2860Ter)
c.4924G>T (p.Gly1642Ter)
c.8818G>T (p.Gly2940Ter)
c.8809G>T (p.Gly2937Ter)
c.8824G>T (p.Gly2942Ter)
c.3121G>T (p.Gly1041Ter)
 dbSNP
Xg.31444618C>GCA412655320DMDc.3793G>C (p.Gly1265Arg)
c.1567G>C (p.Gly523Arg)
n.2412G>C
n.2439G>C
c.802G>C (p.Gly268Arg)
c.8947G>C (p.Gly2983Arg)
c.4915G>C (p.Gly1639Arg)
n.2608G>C
c.760G>C (p.Gly254Arg)
c.2035G>C (p.Gly679Arg)
c.8935G>C (p.Gly2979Arg)
c.8932G>C (p.Gly2978Arg)
c.8944G>C (p.Gly2982Arg)
c.8923G>C (p.Gly2975Arg)
c.8578G>C (p.Gly2860Arg)
c.4924G>C (p.Gly1642Arg)
c.8818G>C (p.Gly2940Arg)
c.8809G>C (p.Gly2937Arg)
c.8824G>C (p.Gly2942Arg)
c.3121G>C (p.Gly1041Arg)
Xg.31444618C>TCA412655319DMDc.3793G>A (p.Gly1265Arg)
c.1567G>A (p.Gly523Arg)
n.2412G>A
n.2439G>A
c.802G>A (p.Gly268Arg)
c.8947G>A (p.Gly2983Arg)
c.4915G>A (p.Gly1639Arg)
n.2608G>A
c.760G>A (p.Gly254Arg)
c.2035G>A (p.Gly679Arg)
c.8935G>A (p.Gly2979Arg)
c.8932G>A (p.Gly2978Arg)
c.8944G>A (p.Gly2982Arg)
c.8923G>A (p.Gly2975Arg)
c.8578G>A (p.Gly2860Arg)
c.4924G>A (p.Gly1642Arg)
c.8818G>A (p.Gly2940Arg)
c.8809G>A (p.Gly2937Arg)
c.8824G>A (p.Gly2942Arg)
c.3121G>A (p.Gly1041Arg)
Xg.31444619T>ACA515858321DMDc.3792A>T (p.Arg1264=)
c.1566A>T (p.Arg522=)
n.2411A>T
n.2438A>T
c.801A>T (p.Arg267=)
c.8946A>T (p.Arg2982=)
c.4914A>T (p.Arg1638=)
n.2607A>T
c.759A>T (p.Arg253=)
c.2034A>T (p.Arg678=)
c.8934A>T (p.Arg2978=)
c.8931A>T (p.Arg2977=)
c.8943A>T (p.Arg2981=)
c.8922A>T (p.Arg2974=)
c.8577A>T (p.Arg2859=)
c.4923A>T (p.Arg1641=)
c.8817A>T (p.Arg2939=)
c.8808A>T (p.Arg2936=)
c.8823A>T (p.Arg2941=)
c.3120A>T (p.Arg1040=)
Xg.31444619T>CCA515858323DMDc.3792A>G (p.Arg1264=)
c.1566A>G (p.Arg522=)
n.2411A>G
n.2438A>G
c.801A>G (p.Arg267=)
c.8946A>G (p.Arg2982=)
c.4914A>G (p.Arg1638=)
n.2607A>G
c.759A>G (p.Arg253=)
c.2034A>G (p.Arg678=)
c.8934A>G (p.Arg2978=)
c.8931A>G (p.Arg2977=)
c.8943A>G (p.Arg2981=)
c.8922A>G (p.Arg2974=)
c.8577A>G (p.Arg2859=)
c.4923A>G (p.Arg1641=)
c.8817A>G (p.Arg2939=)
c.8808A>G (p.Arg2936=)
c.8823A>G (p.Arg2941=)
c.3120A>G (p.Arg1040=)
Xg.31444619T>GCA515858324DMDc.3792A>C (p.Arg1264=)
c.1566A>C (p.Arg522=)
n.2411A>C
n.2438A>C
c.801A>C (p.Arg267=)
c.8946A>C (p.Arg2982=)
c.4914A>C (p.Arg1638=)
n.2607A>C
c.759A>C (p.Arg253=)
c.2034A>C (p.Arg678=)
c.8934A>C (p.Arg2978=)
c.8931A>C (p.Arg2977=)
c.8943A>C (p.Arg2981=)
c.8922A>C (p.Arg2974=)
c.8577A>C (p.Arg2859=)
c.4923A>C (p.Arg1641=)
c.8817A>C (p.Arg2939=)
c.8808A>C (p.Arg2936=)
c.8823A>C (p.Arg2941=)
c.3120A>C (p.Arg1040=)
Xg.31444620C>ACA412655322DMDc.3791G>T (p.Arg1264Leu)
c.1565G>T (p.Arg522Leu)
n.2410G>T
n.2437G>T
c.800G>T (p.Arg267Leu)
c.8945G>T (p.Arg2982Leu)
c.4913G>T (p.Arg1638Leu)
n.2606G>T
c.758G>T (p.Arg253Leu)
c.2033G>T (p.Arg678Leu)
c.8933G>T (p.Arg2978Leu)
c.8930G>T (p.Arg2977Leu)
c.8942G>T (p.Arg2981Leu)
c.8921G>T (p.Arg2974Leu)
c.8576G>T (p.Arg2859Leu)
c.4922G>T (p.Arg1641Leu)
c.8816G>T (p.Arg2939Leu)
c.8807G>T (p.Arg2936Leu)
c.8822G>T (p.Arg2941Leu)
c.3119G>T (p.Arg1040Leu)
Xg.31444620C=CA2422434080DMDc.3791G= (p.Arg1264=)
c.1565G= (p.Arg522=)
n.2410G=
n.2437G=
c.800G= (p.Arg267=)
c.8945G= (p.Arg2982=)
c.4913G= (p.Arg1638=)
n.2606G=
c.758G= (p.Arg253=)
c.2033G= (p.Arg678=)
c.8933G= (p.Arg2978=)
c.8930G= (p.Arg2977=)
c.8942G= (p.Arg2981=)
c.8921G= (p.Arg2974=)
c.8576G= (p.Arg2859=)
c.4922G= (p.Arg1641=)
c.8816G= (p.Arg2939=)
c.8807G= (p.Arg2936=)
c.8822G= (p.Arg2941=)
c.3119G= (p.Arg1040=)
Xg.31444620C>GCA412655323DMDc.3791G>C (p.Arg1264Pro)
c.1565G>C (p.Arg522Pro)
n.2410G>C
n.2437G>C
c.800G>C (p.Arg267Pro)
c.8945G>C (p.Arg2982Pro)
c.4913G>C (p.Arg1638Pro)
n.2606G>C
c.758G>C (p.Arg253Pro)
c.2033G>C (p.Arg678Pro)
c.8933G>C (p.Arg2978Pro)
c.8930G>C (p.Arg2977Pro)
c.8942G>C (p.Arg2981Pro)
c.8921G>C (p.Arg2974Pro)
c.8576G>C (p.Arg2859Pro)
c.4922G>C (p.Arg1641Pro)
c.8816G>C (p.Arg2939Pro)
c.8807G>C (p.Arg2936Pro)
c.8822G>C (p.Arg2941Pro)
c.3119G>C (p.Arg1040Pro)
Xg.31444620C>TCA10377947DMDc.3791G>A (p.Arg1264Gln)
c.1565G>A (p.Arg522Gln)
n.2410G>A
n.2437G>A
c.800G>A (p.Arg267Gln)
c.8945G>A (p.Arg2982Gln)
c.4913G>A (p.Arg1638Gln)
n.2606G>A
c.758G>A (p.Arg253Gln)
c.2033G>A (p.Arg678Gln)
c.8933G>A (p.Arg2978Gln)
c.8930G>A (p.Arg2977Gln)
c.8942G>A (p.Arg2981Gln)
c.8921G>A (p.Arg2974Gln)
c.8576G>A (p.Arg2859Gln)
c.4922G>A (p.Arg1641Gln)
c.8816G>A (p.Arg2939Gln)
c.8807G>A (p.Arg2936Gln)
c.8822G>A (p.Arg2941Gln)
c.3119G>A (p.Arg1040Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444621delCA2580100581DMDc.3790del (p.Arg1264GlufsTer7)
c.1564del (p.Arg522GlufsTer7)
n.2409del
n.2436del
c.799del (p.Arg267GlufsTer7)
c.8944del (p.Arg2982GlufsTer7)
c.4912del (p.Arg1638GlufsTer7)
n.2605del
c.757del (p.Arg253GlufsTer7)
c.2032del (p.Arg678GlufsTer7)
c.8932del (p.Arg2978GlufsTer7)
c.8929del (p.Arg2977GlufsTer7)
c.8941del (p.Arg2981GlufsTer7)
c.8920del (p.Arg2974GlufsTer7)
c.8575del (p.Arg2859GlufsTer7)
c.4921del (p.Arg1641GlufsTer7)
c.8815del (p.Arg2939GlufsTer7)
c.8806del (p.Arg2936GlufsTer7)
c.8821del (p.Arg2941GlufsTer7)
c.3118del (p.Arg1040GlufsTer7)
 ClinVar
Xg.31444621G>ACA273079DMDc.3790C>T (p.Arg1264Ter)
c.1564C>T (p.Arg522Ter)
n.2409C>T
n.2436C>T
c.799C>T (p.Arg267Ter)
c.8944C>T (p.Arg2982Ter)
c.4912C>T (p.Arg1638Ter)
n.2605C>T
c.757C>T (p.Arg253Ter)
c.2032C>T (p.Arg678Ter)
c.8932C>T (p.Arg2978Ter)
c.8929C>T (p.Arg2977Ter)
c.8941C>T (p.Arg2981Ter)
c.8920C>T (p.Arg2974Ter)
c.8575C>T (p.Arg2859Ter)
c.4921C>T (p.Arg1641Ter)
c.8815C>T (p.Arg2939Ter)
c.8806C>T (p.Arg2936Ter)
c.8821C>T (p.Arg2941Ter)
c.3118C>T (p.Arg1040Ter)
 ClinVar dbSNP
Xg.31444621G>CCA412655324DMDc.3790C>G (p.Arg1264Gly)
c.1564C>G (p.Arg522Gly)
n.2409C>G
n.2436C>G
c.799C>G (p.Arg267Gly)
c.8944C>G (p.Arg2982Gly)
c.4912C>G (p.Arg1638Gly)
n.2605C>G
c.757C>G (p.Arg253Gly)
c.2032C>G (p.Arg678Gly)
c.8932C>G (p.Arg2978Gly)
c.8929C>G (p.Arg2977Gly)
c.8941C>G (p.Arg2981Gly)
c.8920C>G (p.Arg2974Gly)
c.8575C>G (p.Arg2859Gly)
c.4921C>G (p.Arg1641Gly)
c.8815C>G (p.Arg2939Gly)
c.8806C>G (p.Arg2936Gly)
c.8821C>G (p.Arg2941Gly)
c.3118C>G (p.Arg1040Gly)
Xg.31444621G=CA2422434081DMDc.3790C= (p.Arg1264=)
c.1564C= (p.Arg522=)
n.2409C=
n.2436C=
c.799C= (p.Arg267=)
c.8944C= (p.Arg2982=)
c.4912C= (p.Arg1638=)
n.2605C=
c.757C= (p.Arg253=)
c.2032C= (p.Arg678=)
c.8932C= (p.Arg2978=)
c.8929C= (p.Arg2977=)
c.8941C= (p.Arg2981=)
c.8920C= (p.Arg2974=)
c.8575C= (p.Arg2859=)
c.4921C= (p.Arg1641=)
c.8815C= (p.Arg2939=)
c.8806C= (p.Arg2936=)
c.8821C= (p.Arg2941=)
c.3118C= (p.Arg1040=)
Xg.31444621G>TCA515858326DMDc.3790C>A (p.Arg1264=)
c.1564C>A (p.Arg522=)
n.2409C>A
n.2436C>A
c.799C>A (p.Arg267=)
c.8944C>A (p.Arg2982=)
c.4912C>A (p.Arg1638=)
n.2605C>A
c.757C>A (p.Arg253=)
c.2032C>A (p.Arg678=)
c.8932C>A (p.Arg2978=)
c.8929C>A (p.Arg2977=)
c.8941C>A (p.Arg2981=)
c.8920C>A (p.Arg2974=)
c.8575C>A (p.Arg2859=)
c.4921C>A (p.Arg1641=)
c.8815C>A (p.Arg2939=)
c.8806C>A (p.Arg2936=)
c.8821C>A (p.Arg2941=)
c.3118C>A (p.Arg1040=)
Xg.31444622A>CCA515858329DMDc.3789T>G (p.Leu1263=)
c.1563T>G (p.Leu521=)
n.2408T>G
n.2435T>G
c.798T>G (p.Leu266=)
c.8943T>G (p.Leu2981=)
c.4911T>G (p.Leu1637=)
n.2604T>G
c.756T>G (p.Leu252=)
c.2031T>G (p.Leu677=)
c.8931T>G (p.Leu2977=)
c.8928T>G (p.Leu2976=)
c.8940T>G (p.Leu2980=)
c.8919T>G (p.Leu2973=)
c.8574T>G (p.Leu2858=)
c.4920T>G (p.Leu1640=)
c.8814T>G (p.Leu2938=)
c.8805T>G (p.Leu2935=)
c.8820T>G (p.Leu2940=)
c.3117T>G (p.Leu1039=)
Xg.31444622A>GCA515858330DMDc.3789T>C (p.Leu1263=)
c.1563T>C (p.Leu521=)
n.2408T>C
n.2435T>C
c.798T>C (p.Leu266=)
c.8943T>C (p.Leu2981=)
c.4911T>C (p.Leu1637=)
n.2604T>C
c.756T>C (p.Leu252=)
c.2031T>C (p.Leu677=)
c.8931T>C (p.Leu2977=)
c.8928T>C (p.Leu2976=)
c.8940T>C (p.Leu2980=)
c.8919T>C (p.Leu2973=)
c.8574T>C (p.Leu2858=)
c.4920T>C (p.Leu1640=)
c.8814T>C (p.Leu2938=)
c.8805T>C (p.Leu2935=)
c.8820T>C (p.Leu2940=)
c.3117T>C (p.Leu1039=)
Xg.31444622A>TCA515858331DMDc.3789T>A (p.Leu1263=)
c.1563T>A (p.Leu521=)
n.2408T>A
n.2435T>A
c.798T>A (p.Leu266=)
c.8943T>A (p.Leu2981=)
c.4911T>A (p.Leu1637=)
n.2604T>A
c.756T>A (p.Leu252=)
c.2031T>A (p.Leu677=)
c.8931T>A (p.Leu2977=)
c.8928T>A (p.Leu2976=)
c.8940T>A (p.Leu2980=)
c.8919T>A (p.Leu2973=)
c.8574T>A (p.Leu2858=)
c.4920T>A (p.Leu1640=)
c.8814T>A (p.Leu2938=)
c.8805T>A (p.Leu2935=)
c.8820T>A (p.Leu2940=)
c.3117T>A (p.Leu1039=)
Xg.31444623A=CA2422434082DMDc.3788T= (p.Leu1263=)
c.1562T= (p.Leu521=)
n.2407T=
n.2434T=
c.797T= (p.Leu266=)
c.8942T= (p.Leu2981=)
c.4910T= (p.Leu1637=)
n.2603T=
c.755T= (p.Leu252=)
c.2030T= (p.Leu677=)
c.8930T= (p.Leu2977=)
c.8927T= (p.Leu2976=)
c.8939T= (p.Leu2980=)
c.8918T= (p.Leu2973=)
c.8573T= (p.Leu2858=)
c.4919T= (p.Leu1640=)
c.8813T= (p.Leu2938=)
c.8804T= (p.Leu2935=)
c.8819T= (p.Leu2940=)
c.3116T= (p.Leu1039=)
Xg.31444623A>CCA412655325DMDc.3788T>G (p.Leu1263Arg)
c.1562T>G (p.Leu521Arg)
n.2407T>G
n.2434T>G
c.797T>G (p.Leu266Arg)
c.8942T>G (p.Leu2981Arg)
c.4910T>G (p.Leu1637Arg)
n.2603T>G
c.755T>G (p.Leu252Arg)
c.2030T>G (p.Leu677Arg)
c.8930T>G (p.Leu2977Arg)
c.8927T>G (p.Leu2976Arg)
c.8939T>G (p.Leu2980Arg)
c.8918T>G (p.Leu2973Arg)
c.8573T>G (p.Leu2858Arg)
c.4919T>G (p.Leu1640Arg)
c.8813T>G (p.Leu2938Arg)
c.8804T>G (p.Leu2935Arg)
c.8819T>G (p.Leu2940Arg)
c.3116T>G (p.Leu1039Arg)
Xg.31444623A>GCA412655326DMDc.3788T>C (p.Leu1263Pro)
c.1562T>C (p.Leu521Pro)
n.2407T>C
n.2434T>C
c.797T>C (p.Leu266Pro)
c.8942T>C (p.Leu2981Pro)
c.4910T>C (p.Leu1637Pro)
n.2603T>C
c.755T>C (p.Leu252Pro)
c.2030T>C (p.Leu677Pro)
c.8930T>C (p.Leu2977Pro)
c.8927T>C (p.Leu2976Pro)
c.8939T>C (p.Leu2980Pro)
c.8918T>C (p.Leu2973Pro)
c.8573T>C (p.Leu2858Pro)
c.4919T>C (p.Leu1640Pro)
c.8813T>C (p.Leu2938Pro)
c.8804T>C (p.Leu2935Pro)
c.8819T>C (p.Leu2940Pro)
c.3116T>C (p.Leu1039Pro)
 ClinVar dbSNP
Xg.31444623A>TCA412655327DMDc.3788T>A (p.Leu1263His)
c.1562T>A (p.Leu521His)
n.2407T>A
n.2434T>A
c.797T>A (p.Leu266His)
c.8942T>A (p.Leu2981His)
c.4910T>A (p.Leu1637His)
n.2603T>A
c.755T>A (p.Leu252His)
c.2030T>A (p.Leu677His)
c.8930T>A (p.Leu2977His)
c.8927T>A (p.Leu2976His)
c.8939T>A (p.Leu2980His)
c.8918T>A (p.Leu2973His)
c.8573T>A (p.Leu2858His)
c.4919T>A (p.Leu1640His)
c.8813T>A (p.Leu2938His)
c.8804T>A (p.Leu2935His)
c.8819T>A (p.Leu2940His)
c.3116T>A (p.Leu1039His)
Xg.31444624G>ACA412655328DMDc.3787C>T (p.Leu1263Phe)
c.1561C>T (p.Leu521Phe)
n.2406C>T
n.2433C>T
c.796C>T (p.Leu266Phe)
c.8941C>T (p.Leu2981Phe)
c.4909C>T (p.Leu1637Phe)
n.2602C>T
c.754C>T (p.Leu252Phe)
c.2029C>T (p.Leu677Phe)
c.8929C>T (p.Leu2977Phe)
c.8926C>T (p.Leu2976Phe)
c.8938C>T (p.Leu2980Phe)
c.8917C>T (p.Leu2973Phe)
c.8572C>T (p.Leu2858Phe)
c.4918C>T (p.Leu1640Phe)
c.8812C>T (p.Leu2938Phe)
c.8803C>T (p.Leu2935Phe)
c.8818C>T (p.Leu2940Phe)
c.3115C>T (p.Leu1039Phe)
Xg.31444624G>CCA412655329DMDc.3787C>G (p.Leu1263Val)
c.1561C>G (p.Leu521Val)
n.2406C>G
n.2433C>G
c.796C>G (p.Leu266Val)
c.8941C>G (p.Leu2981Val)
c.4909C>G (p.Leu1637Val)
n.2602C>G
c.754C>G (p.Leu252Val)
c.2029C>G (p.Leu677Val)
c.8929C>G (p.Leu2977Val)
c.8926C>G (p.Leu2976Val)
c.8938C>G (p.Leu2980Val)
c.8917C>G (p.Leu2973Val)
c.8572C>G (p.Leu2858Val)
c.4918C>G (p.Leu1640Val)
c.8812C>G (p.Leu2938Val)
c.8803C>G (p.Leu2935Val)
c.8818C>G (p.Leu2940Val)
c.3115C>G (p.Leu1039Val)
Xg.31444624G>TCA412655330DMDc.3787C>A (p.Leu1263Ile)
c.1561C>A (p.Leu521Ile)
n.2406C>A
n.2433C>A
c.796C>A (p.Leu266Ile)
c.8941C>A (p.Leu2981Ile)
c.4909C>A (p.Leu1637Ile)
n.2602C>A
c.754C>A (p.Leu252Ile)
c.2029C>A (p.Leu677Ile)
c.8929C>A (p.Leu2977Ile)
c.8926C>A (p.Leu2976Ile)
c.8938C>A (p.Leu2980Ile)
c.8917C>A (p.Leu2973Ile)
c.8572C>A (p.Leu2858Ile)
c.4918C>A (p.Leu1640Ile)
c.8812C>A (p.Leu2938Ile)
c.8803C>A (p.Leu2935Ile)
c.8818C>A (p.Leu2940Ile)
c.3115C>A (p.Leu1039Ile)
 ClinVar dbSNP gnomAD v4
Xg.31444625T>ACA515858334DMDc.3786A>T (p.Ala1262=)
c.1560A>T (p.Ala520=)
n.2405A>T
n.2432A>T
c.795A>T (p.Ala265=)
c.8940A>T (p.Ala2980=)
c.4908A>T (p.Ala1636=)
n.2601A>T
c.753A>T (p.Ala251=)
c.2028A>T (p.Ala676=)
c.8928A>T (p.Ala2976=)
c.8925A>T (p.Ala2975=)
c.8937A>T (p.Ala2979=)
c.8916A>T (p.Ala2972=)
c.8571A>T (p.Ala2857=)
c.4917A>T (p.Ala1639=)
c.8811A>T (p.Ala2937=)
c.8802A>T (p.Ala2934=)
c.8817A>T (p.Ala2939=)
c.3114A>T (p.Ala1038=)
Xg.31444625T>CCA515858335DMDc.3786A>G (p.Ala1262=)
c.1560A>G (p.Ala520=)
n.2405A>G
n.2432A>G
c.795A>G (p.Ala265=)
c.8940A>G (p.Ala2980=)
c.4908A>G (p.Ala1636=)
n.2601A>G
c.753A>G (p.Ala251=)
c.2028A>G (p.Ala676=)
c.8928A>G (p.Ala2976=)
c.8925A>G (p.Ala2975=)
c.8937A>G (p.Ala2979=)
c.8916A>G (p.Ala2972=)
c.8571A>G (p.Ala2857=)
c.4917A>G (p.Ala1639=)
c.8811A>G (p.Ala2937=)
c.8802A>G (p.Ala2934=)
c.8817A>G (p.Ala2939=)
c.3114A>G (p.Ala1038=)
Xg.31444625T>GCA515858336DMDc.3786A>C (p.Ala1262=)
c.1560A>C (p.Ala520=)
n.2405A>C
n.2432A>C
c.795A>C (p.Ala265=)
c.8940A>C (p.Ala2980=)
c.4908A>C (p.Ala1636=)
n.2601A>C
c.753A>C (p.Ala251=)
c.2028A>C (p.Ala676=)
c.8928A>C (p.Ala2976=)
c.8925A>C (p.Ala2975=)
c.8937A>C (p.Ala2979=)
c.8916A>C (p.Ala2972=)
c.8571A>C (p.Ala2857=)
c.4917A>C (p.Ala1639=)
c.8811A>C (p.Ala2937=)
c.8802A>C (p.Ala2934=)
c.8817A>C (p.Ala2939=)
c.3114A>C (p.Ala1038=)
Xg.31444626G>ACA412655331DMDc.3785C>T (p.Ala1262Val)
c.1559C>T (p.Ala520Val)
n.2404C>T
n.2431C>T
c.794C>T (p.Ala265Val)
c.8939C>T (p.Ala2980Val)
c.4907C>T (p.Ala1636Val)
n.2600C>T
c.752C>T (p.Ala251Val)
c.2027C>T (p.Ala676Val)
c.8927C>T (p.Ala2976Val)
c.8924C>T (p.Ala2975Val)
c.8936C>T (p.Ala2979Val)
c.8915C>T (p.Ala2972Val)
c.8570C>T (p.Ala2857Val)
c.4916C>T (p.Ala1639Val)
c.8810C>T (p.Ala2937Val)
c.8801C>T (p.Ala2934Val)
c.8816C>T (p.Ala2939Val)
c.3113C>T (p.Ala1038Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444626G>CCA412655332DMDc.3785C>G (p.Ala1262Gly)
c.1559C>G (p.Ala520Gly)
n.2404C>G
n.2431C>G
c.794C>G (p.Ala265Gly)
c.8939C>G (p.Ala2980Gly)
c.4907C>G (p.Ala1636Gly)
n.2600C>G
c.752C>G (p.Ala251Gly)
c.2027C>G (p.Ala676Gly)
c.8927C>G (p.Ala2976Gly)
c.8924C>G (p.Ala2975Gly)
c.8936C>G (p.Ala2979Gly)
c.8915C>G (p.Ala2972Gly)
c.8570C>G (p.Ala2857Gly)
c.4916C>G (p.Ala1639Gly)
c.8810C>G (p.Ala2937Gly)
c.8801C>G (p.Ala2934Gly)
c.8816C>G (p.Ala2939Gly)
c.3113C>G (p.Ala1038Gly)
Xg.31444626G=CA2422434083DMDc.3785C= (p.Ala1262=)
c.1559C= (p.Ala520=)
n.2404C=
n.2431C=
c.794C= (p.Ala265=)
c.8939C= (p.Ala2980=)
c.4907C= (p.Ala1636=)
n.2600C=
c.752C= (p.Ala251=)
c.2027C= (p.Ala676=)
c.8927C= (p.Ala2976=)
c.8924C= (p.Ala2975=)
c.8936C= (p.Ala2979=)
c.8915C= (p.Ala2972=)
c.8570C= (p.Ala2857=)
c.4916C= (p.Ala1639=)
c.8810C= (p.Ala2937=)
c.8801C= (p.Ala2934=)
c.8816C= (p.Ala2939=)
c.3113C= (p.Ala1038=)
Xg.31444626G>TCA412655333DMDc.3785C>A (p.Ala1262Glu)
c.1559C>A (p.Ala520Glu)
n.2404C>A
n.2431C>A
c.794C>A (p.Ala265Glu)
c.8939C>A (p.Ala2980Glu)
c.4907C>A (p.Ala1636Glu)
n.2600C>A
c.752C>A (p.Ala251Glu)
c.2027C>A (p.Ala676Glu)
c.8927C>A (p.Ala2976Glu)
c.8924C>A (p.Ala2975Glu)
c.8936C>A (p.Ala2979Glu)
c.8915C>A (p.Ala2972Glu)
c.8570C>A (p.Ala2857Glu)
c.4916C>A (p.Ala1639Glu)
c.8810C>A (p.Ala2937Glu)
c.8801C>A (p.Ala2934Glu)
c.8816C>A (p.Ala2939Glu)
c.3113C>A (p.Ala1038Glu)
 gnomAD v4
Xg.31444626_31444627insACTTGACA2820298335DMDc.3784_3785insTCAAGT (p.Ala1262delinsValLysSer)
c.1558_1559insTCAAGT (p.Ala520delinsValLysSer)
n.2403_2404insTCAAGT
n.2430_2431insTCAAGT
c.793_794insTCAAGT (p.Ala265delinsValLysSer)
c.8938_8939insTCAAGT (p.Ala2980delinsValLysSer)
c.4906_4907insTCAAGT (p.Ala1636delinsValLysSer)
n.2599_2600insTCAAGT
c.751_752insTCAAGT (p.Ala251delinsValLysSer)
c.2026_2027insTCAAGT (p.Ala676delinsValLysSer)
c.8926_8927insTCAAGT (p.Ala2976delinsValLysSer)
c.8923_8924insTCAAGT (p.Ala2975delinsValLysSer)
c.8935_8936insTCAAGT (p.Ala2979delinsValLysSer)
c.8914_8915insTCAAGT (p.Ala2972delinsValLysSer)
c.8569_8570insTCAAGT (p.Ala2857delinsValLysSer)
c.4915_4916insTCAAGT (p.Ala1639delinsValLysSer)
c.8809_8810insTCAAGT (p.Ala2937delinsValLysSer)
c.8800_8801insTCAAGT (p.Ala2934delinsValLysSer)
c.8815_8816insTCAAGT (p.Ala2939delinsValLysSer)
c.3112_3113insTCAAGT (p.Ala1038delinsValLysSer)
Xg.31444627C>ACA412655336DMDc.3784G>T (p.Ala1262Ser)
c.1558G>T (p.Ala520Ser)
n.2403G>T
n.2430G>T
c.793G>T (p.Ala265Ser)
c.8938G>T (p.Ala2980Ser)
c.4906G>T (p.Ala1636Ser)
n.2599G>T
c.751G>T (p.Ala251Ser)
c.2026G>T (p.Ala676Ser)
c.8926G>T (p.Ala2976Ser)
c.8923G>T (p.Ala2975Ser)
c.8935G>T (p.Ala2979Ser)
c.8914G>T (p.Ala2972Ser)
c.8569G>T (p.Ala2857Ser)
c.4915G>T (p.Ala1639Ser)
c.8809G>T (p.Ala2937Ser)
c.8800G>T (p.Ala2934Ser)
c.8815G>T (p.Ala2939Ser)
c.3112G>T (p.Ala1038Ser)
Xg.31444627C>GCA412655335DMDc.3784G>C (p.Ala1262Pro)
c.1558G>C (p.Ala520Pro)
n.2403G>C
n.2430G>C
c.793G>C (p.Ala265Pro)
c.8938G>C (p.Ala2980Pro)
c.4906G>C (p.Ala1636Pro)
n.2599G>C
c.751G>C (p.Ala251Pro)
c.2026G>C (p.Ala676Pro)
c.8926G>C (p.Ala2976Pro)
c.8923G>C (p.Ala2975Pro)
c.8935G>C (p.Ala2979Pro)
c.8914G>C (p.Ala2972Pro)
c.8569G>C (p.Ala2857Pro)
c.4915G>C (p.Ala1639Pro)
c.8809G>C (p.Ala2937Pro)
c.8800G>C (p.Ala2934Pro)
c.8815G>C (p.Ala2939Pro)
c.3112G>C (p.Ala1038Pro)
Xg.31444627C>TCA412655334DMDc.3784G>A (p.Ala1262Thr)
c.1558G>A (p.Ala520Thr)
n.2403G>A
n.2430G>A
c.793G>A (p.Ala265Thr)
c.8938G>A (p.Ala2980Thr)
c.4906G>A (p.Ala1636Thr)
n.2599G>A
c.751G>A (p.Ala251Thr)
c.2026G>A (p.Ala676Thr)
c.8926G>A (p.Ala2976Thr)
c.8923G>A (p.Ala2975Thr)
c.8935G>A (p.Ala2979Thr)
c.8914G>A (p.Ala2972Thr)
c.8569G>A (p.Ala2857Thr)
c.4915G>A (p.Ala1639Thr)
c.8809G>A (p.Ala2937Thr)
c.8800G>A (p.Ala2934Thr)
c.8815G>A (p.Ala2939Thr)
c.3112G>A (p.Ala1038Thr)
Xg.31444628C>ACA412655337DMDc.3784-1G>T (n.3784-1G>T)
c.1558-1G>T (n.1558-1G>T)
n.2403-1G>T
n.2430-1G>T
c.793-1G>T (n.793-1G>T)
c.8938-1G>T (n.8938-1G>T)
c.4906-1G>T (n.4906-1G>T)
n.2599-1G>T
c.751-1G>T (n.751-1G>T)
c.2026-1G>T (n.2026-1G>T)
c.8926-1G>T (n.8926-1G>T)
c.8923-1G>T (n.8923-1G>T)
c.8935-1G>T (n.8935-1G>T)
c.8914-1G>T (n.8914-1G>T)
c.8569-1G>T (n.8569-1G>T)
c.4915-1G>T (n.4915-1G>T)
c.8809-1G>T (n.8809-1G>T)
c.8800-1G>T (n.8800-1G>T)
c.8815-1G>T (n.8815-1G>T)
c.3112-1G>T (n.3112-1G>T)
Xg.31444628C>GCA412655338DMDc.3784-1G>C (n.3784-1G>C)
c.1558-1G>C (n.1558-1G>C)
n.2403-1G>C
n.2430-1G>C
c.793-1G>C (n.793-1G>C)
c.8938-1G>C (n.8938-1G>C)
c.4906-1G>C (n.4906-1G>C)
n.2599-1G>C
c.751-1G>C (n.751-1G>C)
c.2026-1G>C (n.2026-1G>C)
c.8926-1G>C (n.8926-1G>C)
c.8923-1G>C (n.8923-1G>C)
c.8935-1G>C (n.8935-1G>C)
c.8914-1G>C (n.8914-1G>C)
c.8569-1G>C (n.8569-1G>C)
c.4915-1G>C (n.4915-1G>C)
c.8809-1G>C (n.8809-1G>C)
c.8800-1G>C (n.8800-1G>C)
c.8815-1G>C (n.8815-1G>C)
c.3112-1G>C (n.3112-1G>C)
Xg.31444628C>TCA412655339DMDc.3784-1G>A (n.3784-1G>A)
c.1558-1G>A (n.1558-1G>A)
n.2403-1G>A
n.2430-1G>A
c.793-1G>A (n.793-1G>A)
c.8938-1G>A (n.8938-1G>A)
c.4906-1G>A (n.4906-1G>A)
n.2599-1G>A
c.751-1G>A (n.751-1G>A)
c.2026-1G>A (n.2026-1G>A)
c.8926-1G>A (n.8926-1G>A)
c.8923-1G>A (n.8923-1G>A)
c.8935-1G>A (n.8935-1G>A)
c.8914-1G>A (n.8914-1G>A)
c.8569-1G>A (n.8569-1G>A)
c.4915-1G>A (n.4915-1G>A)
c.8809-1G>A (n.8809-1G>A)
c.8800-1G>A (n.8800-1G>A)
c.8815-1G>A (n.8815-1G>A)
c.3112-1G>A (n.3112-1G>A)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31444629T>ACA412655340DMDc.3784-2A>T (n.3784-2A>T)
c.1558-2A>T (n.1558-2A>T)
n.2403-2A>T
n.2430-2A>T
c.793-2A>T (n.793-2A>T)
c.8938-2A>T (n.8938-2A>T)
c.4906-2A>T (n.4906-2A>T)
n.2599-2A>T
c.751-2A>T (n.751-2A>T)
c.2026-2A>T (n.2026-2A>T)
c.8926-2A>T (n.8926-2A>T)
c.8923-2A>T (n.8923-2A>T)
c.8935-2A>T (n.8935-2A>T)
c.8914-2A>T (n.8914-2A>T)
c.8569-2A>T (n.8569-2A>T)
c.4915-2A>T (n.4915-2A>T)
c.8809-2A>T (n.8809-2A>T)
c.8800-2A>T (n.8800-2A>T)
c.8815-2A>T (n.8815-2A>T)
c.3112-2A>T (n.3112-2A>T)
Xg.31444629T>CCA412655341DMDc.3784-2A>G (n.3784-2A>G)
c.1558-2A>G (n.1558-2A>G)
n.2403-2A>G
n.2430-2A>G
c.793-2A>G (n.793-2A>G)
c.8938-2A>G (n.8938-2A>G)
c.4906-2A>G (n.4906-2A>G)
n.2599-2A>G
c.751-2A>G (n.751-2A>G)
c.2026-2A>G (n.2026-2A>G)
c.8926-2A>G (n.8926-2A>G)
c.8923-2A>G (n.8923-2A>G)
c.8935-2A>G (n.8935-2A>G)
c.8914-2A>G (n.8914-2A>G)
c.8569-2A>G (n.8569-2A>G)
c.4915-2A>G (n.4915-2A>G)
c.8809-2A>G (n.8809-2A>G)
c.8800-2A>G (n.8800-2A>G)
c.8815-2A>G (n.8815-2A>G)
c.3112-2A>G (n.3112-2A>G)
Xg.31444629T>GCA412655342DMDc.3784-2A>C (n.3784-2A>C)
c.1558-2A>C (n.1558-2A>C)
n.2403-2A>C
n.2430-2A>C
c.793-2A>C (n.793-2A>C)
c.8938-2A>C (n.8938-2A>C)
c.4906-2A>C (n.4906-2A>C)
n.2599-2A>C
c.751-2A>C (n.751-2A>C)
c.2026-2A>C (n.2026-2A>C)
c.8926-2A>C (n.8926-2A>C)
c.8923-2A>C (n.8923-2A>C)
c.8935-2A>C (n.8935-2A>C)
c.8914-2A>C (n.8914-2A>C)
c.8569-2A>C (n.8569-2A>C)
c.4915-2A>C (n.4915-2A>C)
c.8809-2A>C (n.8809-2A>C)
c.8800-2A>C (n.8800-2A>C)
c.8815-2A>C (n.8815-2A>C)
c.3112-2A>C (n.3112-2A>C)
Xg.31444629_31444630insTGACTTTCTCCA2820298336DMDc.3784-3_3784-2insGAGAAAGTCA (n.3784-3_3784-2insGAGAAAGTCA)
c.1558-3_1558-2insGAGAAAGTCA (n.1558-3_1558-2insGAGAAAGTCA)
n.2403-3_2403-2insGAGAAAGTCA
n.2430-3_2430-2insGAGAAAGTCA
c.793-3_793-2insGAGAAAGTCA (n.793-3_793-2insGAGAAAGTCA)
c.8938-3_8938-2insGAGAAAGTCA (n.8938-3_8938-2insGAGAAAGTCA)
c.4906-3_4906-2insGAGAAAGTCA (n.4906-3_4906-2insGAGAAAGTCA)
n.2599-3_2599-2insGAGAAAGTCA
c.751-3_751-2insGAGAAAGTCA (n.751-3_751-2insGAGAAAGTCA)
c.2026-3_2026-2insGAGAAAGTCA (n.2026-3_2026-2insGAGAAAGTCA)
c.8926-3_8926-2insGAGAAAGTCA (n.8926-3_8926-2insGAGAAAGTCA)
c.8923-3_8923-2insGAGAAAGTCA (n.8923-3_8923-2insGAGAAAGTCA)
c.8935-3_8935-2insGAGAAAGTCA (n.8935-3_8935-2insGAGAAAGTCA)
c.8914-3_8914-2insGAGAAAGTCA (n.8914-3_8914-2insGAGAAAGTCA)
c.8569-3_8569-2insGAGAAAGTCA (n.8569-3_8569-2insGAGAAAGTCA)
c.4915-3_4915-2insGAGAAAGTCA (n.4915-3_4915-2insGAGAAAGTCA)
c.8809-3_8809-2insGAGAAAGTCA (n.8809-3_8809-2insGAGAAAGTCA)
c.8800-3_8800-2insGAGAAAGTCA (n.8800-3_8800-2insGAGAAAGTCA)
c.8815-3_8815-2insGAGAAAGTCA (n.8815-3_8815-2insGAGAAAGTCA)
c.3112-3_3112-2insGAGAAAGTCA (n.3112-3_3112-2insGAGAAAGTCA)
Xg.31444629_31444630insTGACTTTCTCGAGGTGATCTTGGAGAGAGTCAATGAGCA2820298337DMDc.3784-3_3784-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.3784-3_3784-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.1558-3_1558-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.1558-3_1558-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
n.2403-3_2403-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA
n.2430-3_2430-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA
c.793-3_793-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.793-3_793-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8938-3_8938-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8938-3_8938-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.4906-3_4906-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.4906-3_4906-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
n.2599-3_2599-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA
c.751-3_751-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.751-3_751-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.2026-3_2026-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.2026-3_2026-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8926-3_8926-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8926-3_8926-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8923-3_8923-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8923-3_8923-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8935-3_8935-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8935-3_8935-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8914-3_8914-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8914-3_8914-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8569-3_8569-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8569-3_8569-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.4915-3_4915-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.4915-3_4915-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8809-3_8809-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8809-3_8809-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8800-3_8800-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8800-3_8800-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.8815-3_8815-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.8815-3_8815-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
c.3112-3_3112-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA (n.3112-3_3112-2insCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCA)
Xg.31444630G>CCA222527DMDc.3784-3C>G (n.3784-3C>G)
c.1558-3C>G (n.1558-3C>G)
n.2403-3C>G
n.2430-3C>G
c.793-3C>G (n.793-3C>G)
c.8938-3C>G (n.8938-3C>G)
c.4906-3C>G (n.4906-3C>G)
n.2599-3C>G
c.751-3C>G (n.751-3C>G)
c.2026-3C>G (n.2026-3C>G)
c.8926-3C>G (n.8926-3C>G)
c.8923-3C>G (n.8923-3C>G)
c.8935-3C>G (n.8935-3C>G)
c.8914-3C>G (n.8914-3C>G)
c.8569-3C>G (n.8569-3C>G)
c.4915-3C>G (n.4915-3C>G)
c.8809-3C>G (n.8809-3C>G)
c.8800-3C>G (n.8800-3C>G)
c.8815-3C>G (n.8815-3C>G)
c.3112-3C>G (n.3112-3C>G)
 ClinVar dbSNP
Xg.31444630G=CA2422434084DMDc.3784-3C= (n.3784-3C=)
c.1558-3C= (n.1558-3C=)
n.2403-3C=
n.2430-3C=
c.793-3C= (n.793-3C=)
c.8938-3C= (n.8938-3C=)
c.4906-3C= (n.4906-3C=)
n.2599-3C=
c.751-3C= (n.751-3C=)
c.2026-3C= (n.2026-3C=)
c.8926-3C= (n.8926-3C=)
c.8923-3C= (n.8923-3C=)
c.8935-3C= (n.8935-3C=)
c.8914-3C= (n.8914-3C=)
c.8569-3C= (n.8569-3C=)
c.4915-3C= (n.4915-3C=)
c.8809-3C= (n.8809-3C=)
c.8800-3C= (n.8800-3C=)
c.8815-3C= (n.8815-3C=)
c.3112-3C= (n.3112-3C=)
Xg.31444632G>ACA2521859822DMDc.3784-5C>T (n.3784-5C>T)
c.1558-5C>T (n.1558-5C>T)
n.2403-5C>T
n.2430-5C>T
c.793-5C>T (n.793-5C>T)
c.8938-5C>T (n.8938-5C>T)
c.4906-5C>T (n.4906-5C>T)
n.2599-5C>T
c.751-5C>T (n.751-5C>T)
c.2026-5C>T (n.2026-5C>T)
c.8926-5C>T (n.8926-5C>T)
c.8923-5C>T (n.8923-5C>T)
c.8935-5C>T (n.8935-5C>T)
c.8914-5C>T (n.8914-5C>T)
c.8569-5C>T (n.8569-5C>T)
c.4915-5C>T (n.4915-5C>T)
c.8809-5C>T (n.8809-5C>T)
c.8800-5C>T (n.8800-5C>T)
c.8815-5C>T (n.8815-5C>T)
c.3112-5C>T (n.3112-5C>T)
Xg.31444632G>CCA2573158757DMDc.3784-5C>G (n.3784-5C>G)
c.1558-5C>G (n.1558-5C>G)
n.2403-5C>G
n.2430-5C>G
c.793-5C>G (n.793-5C>G)
c.8938-5C>G (n.8938-5C>G)
c.4906-5C>G (n.4906-5C>G)
n.2599-5C>G
c.751-5C>G (n.751-5C>G)
c.2026-5C>G (n.2026-5C>G)
c.8926-5C>G (n.8926-5C>G)
c.8923-5C>G (n.8923-5C>G)
c.8935-5C>G (n.8935-5C>G)
c.8914-5C>G (n.8914-5C>G)
c.8569-5C>G (n.8569-5C>G)
c.4915-5C>G (n.4915-5C>G)
c.8809-5C>G (n.8809-5C>G)
c.8800-5C>G (n.8800-5C>G)
c.8815-5C>G (n.8815-5C>G)
c.3112-5C>G (n.3112-5C>G)
 ClinVar dbSNP
Xg.31444633T>CCA2573158758DMDc.3784-6A>G (n.3784-6A>G)
c.1558-6A>G (n.1558-6A>G)
n.2403-6A>G
n.2430-6A>G
c.793-6A>G (n.793-6A>G)
c.8938-6A>G (n.8938-6A>G)
c.4906-6A>G (n.4906-6A>G)
n.2599-6A>G
c.751-6A>G (n.751-6A>G)
c.2026-6A>G (n.2026-6A>G)
c.8926-6A>G (n.8926-6A>G)
c.8923-6A>G (n.8923-6A>G)
c.8935-6A>G (n.8935-6A>G)
c.8914-6A>G (n.8914-6A>G)
c.8569-6A>G (n.8569-6A>G)
c.4915-6A>G (n.4915-6A>G)
c.8809-6A>G (n.8809-6A>G)
c.8800-6A>G (n.8800-6A>G)
c.8815-6A>G (n.8815-6A>G)
c.3112-6A>G (n.3112-6A>G)
 ClinVar dbSNP gnomAD v4
Xg.31444633T>GCA2549354075DMDc.3784-6A>C (n.3784-6A>C)
c.1558-6A>C (n.1558-6A>C)
n.2403-6A>C
n.2430-6A>C
c.793-6A>C (n.793-6A>C)
c.8938-6A>C (n.8938-6A>C)
c.4906-6A>C (n.4906-6A>C)
n.2599-6A>C
c.751-6A>C (n.751-6A>C)
c.2026-6A>C (n.2026-6A>C)
c.8926-6A>C (n.8926-6A>C)
c.8923-6A>C (n.8923-6A>C)
c.8935-6A>C (n.8935-6A>C)
c.8914-6A>C (n.8914-6A>C)
c.8569-6A>C (n.8569-6A>C)
c.4915-6A>C (n.4915-6A>C)
c.8809-6A>C (n.8809-6A>C)
c.8800-6A>C (n.8800-6A>C)
c.8815-6A>C (n.8815-6A>C)
c.3112-6A>C (n.3112-6A>C)
Xg.31444635C>ACA2520389051DMDc.3784-8G>T (n.3784-8G>T)
c.1558-8G>T (n.1558-8G>T)
n.2403-8G>T
n.2430-8G>T
c.793-8G>T (n.793-8G>T)
c.8938-8G>T (n.8938-8G>T)
c.4906-8G>T (n.4906-8G>T)
n.2599-8G>T
c.751-8G>T (n.751-8G>T)
c.2026-8G>T (n.2026-8G>T)
c.8926-8G>T (n.8926-8G>T)
c.8923-8G>T (n.8923-8G>T)
c.8935-8G>T (n.8935-8G>T)
c.8914-8G>T (n.8914-8G>T)
c.8569-8G>T (n.8569-8G>T)
c.4915-8G>T (n.4915-8G>T)
c.8809-8G>T (n.8809-8G>T)
c.8800-8G>T (n.8800-8G>T)
c.8815-8G>T (n.8815-8G>T)
c.3112-8G>T (n.3112-8G>T)
Xg.31444636A>CCA2579578872DMDc.3784-9T>G (n.3784-9T>G)
c.1558-9T>G (n.1558-9T>G)
n.2403-9T>G
n.2430-9T>G
c.793-9T>G (n.793-9T>G)
c.8938-9T>G (n.8938-9T>G)
c.4906-9T>G (n.4906-9T>G)
n.2599-9T>G
c.751-9T>G (n.751-9T>G)
c.2026-9T>G (n.2026-9T>G)
c.8926-9T>G (n.8926-9T>G)
c.8923-9T>G (n.8923-9T>G)
c.8935-9T>G (n.8935-9T>G)
c.8914-9T>G (n.8914-9T>G)
c.8569-9T>G (n.8569-9T>G)
c.4915-9T>G (n.4915-9T>G)
c.8809-9T>G (n.8809-9T>G)
c.8800-9T>G (n.8800-9T>G)
c.8815-9T>G (n.8815-9T>G)
c.3112-9T>G (n.3112-9T>G)
Xg.31444636A>GCA2693362099DMDc.3784-9T>C (n.3784-9T>C)
c.1558-9T>C (n.1558-9T>C)
n.2403-9T>C
n.2430-9T>C
c.793-9T>C (n.793-9T>C)
c.8938-9T>C (n.8938-9T>C)
c.4906-9T>C (n.4906-9T>C)
n.2599-9T>C
c.751-9T>C (n.751-9T>C)
c.2026-9T>C (n.2026-9T>C)
c.8926-9T>C (n.8926-9T>C)
c.8923-9T>C (n.8923-9T>C)
c.8935-9T>C (n.8935-9T>C)
c.8914-9T>C (n.8914-9T>C)
c.8569-9T>C (n.8569-9T>C)
c.4915-9T>C (n.4915-9T>C)
c.8809-9T>C (n.8809-9T>C)
c.8800-9T>C (n.8800-9T>C)
c.8815-9T>C (n.8815-9T>C)
c.3112-9T>C (n.3112-9T>C)
 gnomAD v4
Xg.31444636A>TCA1139771759DMDc.3784-9T>A (n.3784-9T>A)
c.1558-9T>A (n.1558-9T>A)
n.2403-9T>A
n.2430-9T>A
c.793-9T>A (n.793-9T>A)
c.8938-9T>A (n.8938-9T>A)
c.4906-9T>A (n.4906-9T>A)
n.2599-9T>A
c.751-9T>A (n.751-9T>A)
c.2026-9T>A (n.2026-9T>A)
c.8926-9T>A (n.8926-9T>A)
c.8923-9T>A (n.8923-9T>A)
c.8935-9T>A (n.8935-9T>A)
c.8914-9T>A (n.8914-9T>A)
c.8569-9T>A (n.8569-9T>A)
c.4915-9T>A (n.4915-9T>A)
c.8809-9T>A (n.8809-9T>A)
c.8800-9T>A (n.8800-9T>A)
c.8815-9T>A (n.8815-9T>A)
c.3112-9T>A (n.3112-9T>A)
 dbSNP
Xg.31444638T>CCA641199353DMDc.3784-11A>G (n.3784-11A>G)
c.1558-11A>G (n.1558-11A>G)
n.2403-11A>G
n.2430-11A>G
c.793-11A>G (n.793-11A>G)
c.8938-11A>G (n.8938-11A>G)
c.4906-11A>G (n.4906-11A>G)
n.2599-11A>G
c.751-11A>G (n.751-11A>G)
c.2026-11A>G (n.2026-11A>G)
c.8926-11A>G (n.8926-11A>G)
c.8923-11A>G (n.8923-11A>G)
c.8935-11A>G (n.8935-11A>G)
c.8914-11A>G (n.8914-11A>G)
c.8569-11A>G (n.8569-11A>G)
c.4915-11A>G (n.4915-11A>G)
c.8809-11A>G (n.8809-11A>G)
c.8800-11A>G (n.8800-11A>G)
c.8815-11A>G (n.8815-11A>G)
c.3112-11A>G (n.3112-11A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.31444638T=CA2422434085DMDc.3784-11A= (n.3784-11A=)
c.1558-11A= (n.1558-11A=)
n.2403-11A=
n.2430-11A=
c.793-11A= (n.793-11A=)
c.8938-11A= (n.8938-11A=)
c.4906-11A= (n.4906-11A=)
n.2599-11A=
c.751-11A= (n.751-11A=)
c.2026-11A= (n.2026-11A=)
c.8926-11A= (n.8926-11A=)
c.8923-11A= (n.8923-11A=)
c.8935-11A= (n.8935-11A=)
c.8914-11A= (n.8914-11A=)
c.8569-11A= (n.8569-11A=)
c.4915-11A= (n.4915-11A=)
c.8809-11A= (n.8809-11A=)
c.8800-11A= (n.8800-11A=)
c.8815-11A= (n.8815-11A=)
c.3112-11A= (n.3112-11A=)
Xg.31444640G>ACA2521697580DMDc.3784-13C>T (n.3784-13C>T)
c.1558-13C>T (n.1558-13C>T)
n.2403-13C>T
n.2430-13C>T
c.793-13C>T (n.793-13C>T)
c.8938-13C>T (n.8938-13C>T)
c.4906-13C>T (n.4906-13C>T)
n.2599-13C>T
c.751-13C>T (n.751-13C>T)
c.2026-13C>T (n.2026-13C>T)
c.8926-13C>T (n.8926-13C>T)
c.8923-13C>T (n.8923-13C>T)
c.8935-13C>T (n.8935-13C>T)
c.8914-13C>T (n.8914-13C>T)
c.8569-13C>T (n.8569-13C>T)
c.4915-13C>T (n.4915-13C>T)
c.8809-13C>T (n.8809-13C>T)
c.8800-13C>T (n.8800-13C>T)
c.8815-13C>T (n.8815-13C>T)
c.3112-13C>T (n.3112-13C>T)
Xg.31444640G>CCA2693362100DMDc.3784-13C>G (n.3784-13C>G)
c.1558-13C>G (n.1558-13C>G)
n.2403-13C>G
n.2430-13C>G
c.793-13C>G (n.793-13C>G)
c.8938-13C>G (n.8938-13C>G)
c.4906-13C>G (n.4906-13C>G)
n.2599-13C>G
c.751-13C>G (n.751-13C>G)
c.2026-13C>G (n.2026-13C>G)
c.8926-13C>G (n.8926-13C>G)
c.8923-13C>G (n.8923-13C>G)
c.8935-13C>G (n.8935-13C>G)
c.8914-13C>G (n.8914-13C>G)
c.8569-13C>G (n.8569-13C>G)
c.4915-13C>G (n.4915-13C>G)
c.8809-13C>G (n.8809-13C>G)
c.8800-13C>G (n.8800-13C>G)
c.8815-13C>G (n.8815-13C>G)
c.3112-13C>G (n.3112-13C>G)
 gnomAD v4
Xg.31444640G>TCA2739268126DMDc.3784-13C>A (n.3784-13C>A)
c.1558-13C>A (n.1558-13C>A)
n.2403-13C>A
n.2430-13C>A
c.793-13C>A (n.793-13C>A)
c.8938-13C>A (n.8938-13C>A)
c.4906-13C>A (n.4906-13C>A)
n.2599-13C>A
c.751-13C>A (n.751-13C>A)
c.2026-13C>A (n.2026-13C>A)
c.8926-13C>A (n.8926-13C>A)
c.8923-13C>A (n.8923-13C>A)
c.8935-13C>A (n.8935-13C>A)
c.8914-13C>A (n.8914-13C>A)
c.8569-13C>A (n.8569-13C>A)
c.4915-13C>A (n.4915-13C>A)
c.8809-13C>A (n.8809-13C>A)
c.8800-13C>A (n.8800-13C>A)
c.8815-13C>A (n.8815-13C>A)
c.3112-13C>A (n.3112-13C>A)
 ClinVar
Xg.31444641T>GCA10377948DMDc.3784-14A>C (n.3784-14A>C)
c.1558-14A>C (n.1558-14A>C)
n.2403-14A>C
n.2430-14A>C
c.793-14A>C (n.793-14A>C)
c.8938-14A>C (n.8938-14A>C)
c.4906-14A>C (n.4906-14A>C)
n.2599-14A>C
c.751-14A>C (n.751-14A>C)
c.2026-14A>C (n.2026-14A>C)
c.8926-14A>C (n.8926-14A>C)
c.8923-14A>C (n.8923-14A>C)
c.8935-14A>C (n.8935-14A>C)
c.8914-14A>C (n.8914-14A>C)
c.8569-14A>C (n.8569-14A>C)
c.4915-14A>C (n.4915-14A>C)
c.8809-14A>C (n.8809-14A>C)
c.8800-14A>C (n.8800-14A>C)
c.8815-14A>C (n.8815-14A>C)
c.3112-14A>C (n.3112-14A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31444641T=CA2422434086DMDc.3784-14A= (n.3784-14A=)
c.1558-14A= (n.1558-14A=)
n.2403-14A=
n.2430-14A=
c.793-14A= (n.793-14A=)
c.8938-14A= (n.8938-14A=)
c.4906-14A= (n.4906-14A=)
n.2599-14A=
c.751-14A= (n.751-14A=)
c.2026-14A= (n.2026-14A=)
c.8926-14A= (n.8926-14A=)
c.8923-14A= (n.8923-14A=)
c.8935-14A= (n.8935-14A=)
c.8914-14A= (n.8914-14A=)
c.8569-14A= (n.8569-14A=)
c.4915-14A= (n.4915-14A=)
c.8809-14A= (n.8809-14A=)
c.8800-14A= (n.8800-14A=)
c.8815-14A= (n.8815-14A=)
c.3112-14A= (n.3112-14A=)
Xg.31444642C>ACA2579578873DMDc.3784-15G>T (n.3784-15G>T)
c.1558-15G>T (n.1558-15G>T)
n.2403-15G>T
n.2430-15G>T
c.793-15G>T (n.793-15G>T)
c.8938-15G>T (n.8938-15G>T)
c.4906-15G>T (n.4906-15G>T)
n.2599-15G>T
c.751-15G>T (n.751-15G>T)
c.2026-15G>T (n.2026-15G>T)
c.8926-15G>T (n.8926-15G>T)
c.8923-15G>T (n.8923-15G>T)
c.8935-15G>T (n.8935-15G>T)
c.8914-15G>T (n.8914-15G>T)
c.8569-15G>T (n.8569-15G>T)
c.4915-15G>T (n.4915-15G>T)
c.8809-15G>T (n.8809-15G>T)
c.8800-15G>T (n.8800-15G>T)
c.8815-15G>T (n.8815-15G>T)
c.3112-15G>T (n.3112-15G>T)
Xg.31444642C=CA2422434087DMDc.3784-15G= (n.3784-15G=)
c.1558-15G= (n.1558-15G=)
n.2403-15G=
n.2430-15G=
c.793-15G= (n.793-15G=)
c.8938-15G= (n.8938-15G=)
c.4906-15G= (n.4906-15G=)
n.2599-15G=
c.751-15G= (n.751-15G=)
c.2026-15G= (n.2026-15G=)
c.8926-15G= (n.8926-15G=)
c.8923-15G= (n.8923-15G=)
c.8935-15G= (n.8935-15G=)
c.8914-15G= (n.8914-15G=)
c.8569-15G= (n.8569-15G=)
c.4915-15G= (n.4915-15G=)
c.8809-15G= (n.8809-15G=)
c.8800-15G= (n.8800-15G=)
c.8815-15G= (n.8815-15G=)
c.3112-15G= (n.3112-15G=)
Xg.31444642C>GCA2693362101DMDc.3784-15G>C (n.3784-15G>C)
c.1558-15G>C (n.1558-15G>C)
n.2403-15G>C
n.2430-15G>C
c.793-15G>C (n.793-15G>C)
c.8938-15G>C (n.8938-15G>C)
c.4906-15G>C (n.4906-15G>C)
n.2599-15G>C
c.751-15G>C (n.751-15G>C)
c.2026-15G>C (n.2026-15G>C)
c.8926-15G>C (n.8926-15G>C)
c.8923-15G>C (n.8923-15G>C)
c.8935-15G>C (n.8935-15G>C)
c.8914-15G>C (n.8914-15G>C)
c.8569-15G>C (n.8569-15G>C)
c.4915-15G>C (n.4915-15G>C)
c.8809-15G>C (n.8809-15G>C)
c.8800-15G>C (n.8800-15G>C)
c.8815-15G>C (n.8815-15G>C)
c.3112-15G>C (n.3112-15G>C)
 gnomAD v4
Xg.31444642C>TCA10377949DMDc.3784-15G>A (n.3784-15G>A)
c.1558-15G>A (n.1558-15G>A)
n.2403-15G>A
n.2430-15G>A
c.793-15G>A (n.793-15G>A)
c.8938-15G>A (n.8938-15G>A)
c.4906-15G>A (n.4906-15G>A)
n.2599-15G>A
c.751-15G>A (n.751-15G>A)
c.2026-15G>A (n.2026-15G>A)
c.8926-15G>A (n.8926-15G>A)
c.8923-15G>A (n.8923-15G>A)
c.8935-15G>A (n.8935-15G>A)
c.8914-15G>A (n.8914-15G>A)
c.8569-15G>A (n.8569-15G>A)
c.4915-15G>A (n.4915-15G>A)
c.8809-15G>A (n.8809-15G>A)
c.8800-15G>A (n.8800-15G>A)
c.8815-15G>A (n.8815-15G>A)
c.3112-15G>A (n.3112-15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31444646dupCA2820298338DMDc.3784-16dup (n.3784-16dup)
c.1558-16dup (n.1558-16dup)
n.2403-16dup
n.2430-16dup
c.793-16dup (n.793-16dup)
c.8938-16dup (n.8938-16dup)
c.4906-16dup (n.4906-16dup)
n.2599-16dup
c.751-16dup (n.751-16dup)
c.2026-16dup (n.2026-16dup)
c.8926-16dup (n.8926-16dup)
c.8923-16dup (n.8923-16dup)
c.8935-16dup (n.8935-16dup)
c.8914-16dup (n.8914-16dup)
c.8569-16dup (n.8569-16dup)
c.4915-16dup (n.4915-16dup)
c.8809-16dup (n.8809-16dup)
c.8800-16dup (n.8800-16dup)
c.8815-16dup (n.8815-16dup)
c.3112-16dup (n.3112-16dup)

Number of alleles fetched