Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.31260883_31260929delCA2693387384DMDc.4132+32_4132+78del (n.4132+32_4132+78del)
c.82+32_82+78del (n.82+32_82+78del)
c.1906+32_1906+78del (n.1906+32_1906+78del)
n.803+32_803+78del
n.385+32_385+78del
n.804+32_804+78del
n.2778+32_2778+78del
c.1141+32_1141+78del (n.1141+32_1141+78del)
c.9286+32_9286+78del (n.9286+32_9286+78del)
c.5254+32_5254+78del (n.5254+32_5254+78del)
c.62+32_62+78del
c.25+32_25+78del (n.25+32_25+78del)
n.2947+32_2947+78del
n.216+32_216+78del
c.1099+32_1099+78del (n.1099+32_1099+78del)
c.2374+32_2374+78del (n.2374+32_2374+78del)
c.9274+32_9274+78del (n.9274+32_9274+78del)
n.305+32_305+78del
c.9271+32_9271+78del (n.9271+32_9271+78del)
c.9283+32_9283+78del (n.9283+32_9283+78del)
c.9262+32_9262+78del (n.9262+32_9262+78del)
c.8917+32_8917+78del (n.8917+32_8917+78del)
c.5263+32_5263+78del (n.5263+32_5263+78del)
c.9157+32_9157+78del (n.9157+32_9157+78del)
c.9148+32_9148+78del (n.9148+32_9148+78del)
c.9163+32_9163+78del (n.9163+32_9163+78del)
c.3460+32_3460+78del (n.3460+32_3460+78del)
 gnomAD v4
Xg.31260919T>ACA641196079DMDc.4132+36A>T (n.4132+36A>T)
c.82+36A>T (n.82+36A>T)
c.1906+36A>T (n.1906+36A>T)
n.803+36A>T
n.385+36A>T
n.804+36A>T
n.2778+36A>T
c.1141+36A>T (n.1141+36A>T)
c.9286+36A>T (n.9286+36A>T)
c.5254+36A>T (n.5254+36A>T)
c.62+36A>T
c.25+36A>T (n.25+36A>T)
n.2947+36A>T
n.216+36A>T
c.1099+36A>T (n.1099+36A>T)
c.2374+36A>T (n.2374+36A>T)
c.9274+36A>T (n.9274+36A>T)
n.305+36A>T
c.9271+36A>T (n.9271+36A>T)
c.9283+36A>T (n.9283+36A>T)
c.9262+36A>T (n.9262+36A>T)
c.8917+36A>T (n.8917+36A>T)
c.5263+36A>T (n.5263+36A>T)
c.9157+36A>T (n.9157+36A>T)
c.9148+36A>T (n.9148+36A>T)
c.9163+36A>T (n.9163+36A>T)
c.3460+36A>T (n.3460+36A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31260919T=CA2422368469DMDc.4132+36A= (n.4132+36A=)
c.82+36A= (n.82+36A=)
c.1906+36A= (n.1906+36A=)
n.803+36A=
n.385+36A=
n.804+36A=
n.2778+36A=
c.1141+36A= (n.1141+36A=)
c.9286+36A= (n.9286+36A=)
c.5254+36A= (n.5254+36A=)
c.62+36A=
c.25+36A= (n.25+36A=)
n.2947+36A=
n.216+36A=
c.1099+36A= (n.1099+36A=)
c.2374+36A= (n.2374+36A=)
c.9274+36A= (n.9274+36A=)
n.305+36A=
c.9271+36A= (n.9271+36A=)
c.9283+36A= (n.9283+36A=)
c.9262+36A= (n.9262+36A=)
c.8917+36A= (n.8917+36A=)
c.5263+36A= (n.5263+36A=)
c.9157+36A= (n.9157+36A=)
c.9148+36A= (n.9148+36A=)
c.9163+36A= (n.9163+36A=)
c.3460+36A= (n.3460+36A=)
Xg.31260920delCA2693387399DMDc.4132+35del (n.4132+35del)
c.82+35del (n.82+35del)
c.1906+35del (n.1906+35del)
n.803+35del
n.385+35del
n.804+35del
n.2778+35del
c.1141+35del (n.1141+35del)
c.9286+35del (n.9286+35del)
c.5254+35del (n.5254+35del)
c.62+35del
c.25+35del (n.25+35del)
n.2947+35del
n.216+35del
c.1099+35del (n.1099+35del)
c.2374+35del (n.2374+35del)
c.9274+35del (n.9274+35del)
n.305+35del
c.9271+35del (n.9271+35del)
c.9283+35del (n.9283+35del)
c.9262+35del (n.9262+35del)
c.8917+35del (n.8917+35del)
c.5263+35del (n.5263+35del)
c.9157+35del (n.9157+35del)
c.9148+35del (n.9148+35del)
c.9163+35del (n.9163+35del)
c.3460+35del (n.3460+35del)
 gnomAD v4
Xg.31260920C>TCA2693387400DMDc.4132+35G>A (n.4132+35G>A)
c.82+35G>A (n.82+35G>A)
c.1906+35G>A (n.1906+35G>A)
n.803+35G>A
n.385+35G>A
n.804+35G>A
n.2778+35G>A
c.1141+35G>A (n.1141+35G>A)
c.9286+35G>A (n.9286+35G>A)
c.5254+35G>A (n.5254+35G>A)
c.62+35G>A
c.25+35G>A (n.25+35G>A)
n.2947+35G>A
n.216+35G>A
c.1099+35G>A (n.1099+35G>A)
c.2374+35G>A (n.2374+35G>A)
c.9274+35G>A (n.9274+35G>A)
n.305+35G>A
c.9271+35G>A (n.9271+35G>A)
c.9283+35G>A (n.9283+35G>A)
c.9262+35G>A (n.9262+35G>A)
c.8917+35G>A (n.8917+35G>A)
c.5263+35G>A (n.5263+35G>A)
c.9157+35G>A (n.9157+35G>A)
c.9148+35G>A (n.9148+35G>A)
c.9163+35G>A (n.9163+35G>A)
c.3460+35G>A (n.3460+35G>A)
 gnomAD v4
Xg.31260922T>CCA10377843DMDc.4132+33A>G (n.4132+33A>G)
c.82+33A>G (n.82+33A>G)
c.1906+33A>G (n.1906+33A>G)
n.803+33A>G
n.385+33A>G
n.804+33A>G
n.2778+33A>G
c.1141+33A>G (n.1141+33A>G)
c.9286+33A>G (n.9286+33A>G)
c.5254+33A>G (n.5254+33A>G)
c.62+33A>G
c.25+33A>G (n.25+33A>G)
n.2947+33A>G
n.216+33A>G
c.1099+33A>G (n.1099+33A>G)
c.2374+33A>G (n.2374+33A>G)
c.9274+33A>G (n.9274+33A>G)
n.305+33A>G
c.9271+33A>G (n.9271+33A>G)
c.9283+33A>G (n.9283+33A>G)
c.9262+33A>G (n.9262+33A>G)
c.8917+33A>G (n.8917+33A>G)
c.5263+33A>G (n.5263+33A>G)
c.9157+33A>G (n.9157+33A>G)
c.9148+33A>G (n.9148+33A>G)
c.9163+33A>G (n.9163+33A>G)
c.3460+33A>G (n.3460+33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31260922T=CA2422368470DMDc.4132+33A= (n.4132+33A=)
c.82+33A= (n.82+33A=)
c.1906+33A= (n.1906+33A=)
n.803+33A=
n.385+33A=
n.804+33A=
n.2778+33A=
c.1141+33A= (n.1141+33A=)
c.9286+33A= (n.9286+33A=)
c.5254+33A= (n.5254+33A=)
c.62+33A=
c.25+33A= (n.25+33A=)
n.2947+33A=
n.216+33A=
c.1099+33A= (n.1099+33A=)
c.2374+33A= (n.2374+33A=)
c.9274+33A= (n.9274+33A=)
n.305+33A=
c.9271+33A= (n.9271+33A=)
c.9283+33A= (n.9283+33A=)
c.9262+33A= (n.9262+33A=)
c.8917+33A= (n.8917+33A=)
c.5263+33A= (n.5263+33A=)
c.9157+33A= (n.9157+33A=)
c.9148+33A= (n.9148+33A=)
c.9163+33A= (n.9163+33A=)
c.3460+33A= (n.3460+33A=)
Xg.31260923T>ACA2422368472DMDc.4132+32A>T (n.4132+32A>T)
c.82+32A>T (n.82+32A>T)
c.1906+32A>T (n.1906+32A>T)
n.803+32A>T
n.385+32A>T
n.804+32A>T
n.2778+32A>T
c.1141+32A>T (n.1141+32A>T)
c.9286+32A>T (n.9286+32A>T)
c.5254+32A>T (n.5254+32A>T)
c.62+32A>T
c.25+32A>T (n.25+32A>T)
n.2947+32A>T
n.216+32A>T
c.1099+32A>T (n.1099+32A>T)
c.2374+32A>T (n.2374+32A>T)
c.9274+32A>T (n.9274+32A>T)
n.305+32A>T
c.9271+32A>T (n.9271+32A>T)
c.9283+32A>T (n.9283+32A>T)
c.9262+32A>T (n.9262+32A>T)
c.8917+32A>T (n.8917+32A>T)
c.5263+32A>T (n.5263+32A>T)
c.9157+32A>T (n.9157+32A>T)
c.9148+32A>T (n.9148+32A>T)
c.9163+32A>T (n.9163+32A>T)
c.3460+32A>T (n.3460+32A>T)
 dbSNP
Xg.31260923T=CA2422368471DMDc.4132+32A= (n.4132+32A=)
c.82+32A= (n.82+32A=)
c.1906+32A= (n.1906+32A=)
n.803+32A=
n.385+32A=
n.804+32A=
n.2778+32A=
c.1141+32A= (n.1141+32A=)
c.9286+32A= (n.9286+32A=)
c.5254+32A= (n.5254+32A=)
c.62+32A=
c.25+32A= (n.25+32A=)
n.2947+32A=
n.216+32A=
c.1099+32A= (n.1099+32A=)
c.2374+32A= (n.2374+32A=)
c.9274+32A= (n.9274+32A=)
n.305+32A=
c.9271+32A= (n.9271+32A=)
c.9283+32A= (n.9283+32A=)
c.9262+32A= (n.9262+32A=)
c.8917+32A= (n.8917+32A=)
c.5263+32A= (n.5263+32A=)
c.9157+32A= (n.9157+32A=)
c.9148+32A= (n.9148+32A=)
c.9163+32A= (n.9163+32A=)
c.3460+32A= (n.3460+32A=)
Xg.31260926A=CA2422368473DMDc.4132+29T= (n.4132+29T=)
c.82+29T= (n.82+29T=)
c.1906+29T= (n.1906+29T=)
n.803+29T=
n.385+29T=
n.804+29T=
n.2778+29T=
c.1141+29T= (n.1141+29T=)
c.9286+29T= (n.9286+29T=)
c.5254+29T= (n.5254+29T=)
c.62+29T=
c.25+29T= (n.25+29T=)
n.2947+29T=
n.216+29T=
c.1099+29T= (n.1099+29T=)
c.2374+29T= (n.2374+29T=)
c.9274+29T= (n.9274+29T=)
n.305+29T=
c.9271+29T= (n.9271+29T=)
c.9283+29T= (n.9283+29T=)
c.9262+29T= (n.9262+29T=)
c.8917+29T= (n.8917+29T=)
c.5263+29T= (n.5263+29T=)
c.9157+29T= (n.9157+29T=)
c.9148+29T= (n.9148+29T=)
c.9163+29T= (n.9163+29T=)
c.3460+29T= (n.3460+29T=)
Xg.31260926A>CCA2693387401DMDc.4132+29T>G (n.4132+29T>G)
c.82+29T>G (n.82+29T>G)
c.1906+29T>G (n.1906+29T>G)
n.803+29T>G
n.385+29T>G
n.804+29T>G
n.2778+29T>G
c.1141+29T>G (n.1141+29T>G)
c.9286+29T>G (n.9286+29T>G)
c.5254+29T>G (n.5254+29T>G)
c.62+29T>G
c.25+29T>G (n.25+29T>G)
n.2947+29T>G
n.216+29T>G
c.1099+29T>G (n.1099+29T>G)
c.2374+29T>G (n.2374+29T>G)
c.9274+29T>G (n.9274+29T>G)
n.305+29T>G
c.9271+29T>G (n.9271+29T>G)
c.9283+29T>G (n.9283+29T>G)
c.9262+29T>G (n.9262+29T>G)
c.8917+29T>G (n.8917+29T>G)
c.5263+29T>G (n.5263+29T>G)
c.9157+29T>G (n.9157+29T>G)
c.9148+29T>G (n.9148+29T>G)
c.9163+29T>G (n.9163+29T>G)
c.3460+29T>G (n.3460+29T>G)
 gnomAD v4
Xg.31260926A>GCA10377844DMDc.4132+29T>C (n.4132+29T>C)
c.82+29T>C (n.82+29T>C)
c.1906+29T>C (n.1906+29T>C)
n.803+29T>C
n.385+29T>C
n.804+29T>C
n.2778+29T>C
c.1141+29T>C (n.1141+29T>C)
c.9286+29T>C (n.9286+29T>C)
c.5254+29T>C (n.5254+29T>C)
c.62+29T>C
c.25+29T>C (n.25+29T>C)
n.2947+29T>C
n.216+29T>C
c.1099+29T>C (n.1099+29T>C)
c.2374+29T>C (n.2374+29T>C)
c.9274+29T>C (n.9274+29T>C)
n.305+29T>C
c.9271+29T>C (n.9271+29T>C)
c.9283+29T>C (n.9283+29T>C)
c.9262+29T>C (n.9262+29T>C)
c.8917+29T>C (n.8917+29T>C)
c.5263+29T>C (n.5263+29T>C)
c.9157+29T>C (n.9157+29T>C)
c.9148+29T>C (n.9148+29T>C)
c.9163+29T>C (n.9163+29T>C)
c.3460+29T>C (n.3460+29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31260927C=CA2422368474DMDc.4132+28G= (n.4132+28G=)
c.82+28G= (n.82+28G=)
c.1906+28G= (n.1906+28G=)
n.803+28G=
n.385+28G=
n.804+28G=
n.2778+28G=
c.1141+28G= (n.1141+28G=)
c.9286+28G= (n.9286+28G=)
c.5254+28G= (n.5254+28G=)
c.62+28G=
c.25+28G= (n.25+28G=)
n.2947+28G=
n.216+28G=
c.1099+28G= (n.1099+28G=)
c.2374+28G= (n.2374+28G=)
c.9274+28G= (n.9274+28G=)
n.305+28G=
c.9271+28G= (n.9271+28G=)
c.9283+28G= (n.9283+28G=)
c.9262+28G= (n.9262+28G=)
c.8917+28G= (n.8917+28G=)
c.5263+28G= (n.5263+28G=)
c.9157+28G= (n.9157+28G=)
c.9148+28G= (n.9148+28G=)
c.9163+28G= (n.9163+28G=)
c.3460+28G= (n.3460+28G=)
Xg.31260927C>TCA641196080DMDc.4132+28G>A (n.4132+28G>A)
c.82+28G>A (n.82+28G>A)
c.1906+28G>A (n.1906+28G>A)
n.803+28G>A
n.385+28G>A
n.804+28G>A
n.2778+28G>A
c.1141+28G>A (n.1141+28G>A)
c.9286+28G>A (n.9286+28G>A)
c.5254+28G>A (n.5254+28G>A)
c.62+28G>A
c.25+28G>A (n.25+28G>A)
n.2947+28G>A
n.216+28G>A
c.1099+28G>A (n.1099+28G>A)
c.2374+28G>A (n.2374+28G>A)
c.9274+28G>A (n.9274+28G>A)
n.305+28G>A
c.9271+28G>A (n.9271+28G>A)
c.9283+28G>A (n.9283+28G>A)
c.9262+28G>A (n.9262+28G>A)
c.8917+28G>A (n.8917+28G>A)
c.5263+28G>A (n.5263+28G>A)
c.9157+28G>A (n.9157+28G>A)
c.9148+28G>A (n.9148+28G>A)
c.9163+28G>A (n.9163+28G>A)
c.3460+28G>A (n.3460+28G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31260928T>GCA2693387402DMDc.4132+27A>C (n.4132+27A>C)
c.82+27A>C (n.82+27A>C)
c.1906+27A>C (n.1906+27A>C)
n.803+27A>C
n.385+27A>C
n.804+27A>C
n.2778+27A>C
c.1141+27A>C (n.1141+27A>C)
c.9286+27A>C (n.9286+27A>C)
c.5254+27A>C (n.5254+27A>C)
c.62+27A>C
c.25+27A>C (n.25+27A>C)
n.2947+27A>C
n.216+27A>C
c.1099+27A>C (n.1099+27A>C)
c.2374+27A>C (n.2374+27A>C)
c.9274+27A>C (n.9274+27A>C)
n.305+27A>C
c.9271+27A>C (n.9271+27A>C)
c.9283+27A>C (n.9283+27A>C)
c.9262+27A>C (n.9262+27A>C)
c.8917+27A>C (n.8917+27A>C)
c.5263+27A>C (n.5263+27A>C)
c.9157+27A>C (n.9157+27A>C)
c.9148+27A>C (n.9148+27A>C)
c.9163+27A>C (n.9163+27A>C)
c.3460+27A>C (n.3460+27A>C)
 gnomAD v4
Xg.31260930G>ACA2693387403DMDc.4132+25C>T (n.4132+25C>T)
c.82+25C>T (n.82+25C>T)
c.1906+25C>T (n.1906+25C>T)
n.803+25C>T
n.385+25C>T
n.804+25C>T
n.2778+25C>T
c.1141+25C>T (n.1141+25C>T)
c.9286+25C>T (n.9286+25C>T)
c.5254+25C>T (n.5254+25C>T)
c.62+25C>T
c.25+25C>T (n.25+25C>T)
n.2947+25C>T
n.216+25C>T
c.1099+25C>T (n.1099+25C>T)
c.2374+25C>T (n.2374+25C>T)
c.9274+25C>T (n.9274+25C>T)
n.305+25C>T
c.9271+25C>T (n.9271+25C>T)
c.9283+25C>T (n.9283+25C>T)
c.9262+25C>T (n.9262+25C>T)
c.8917+25C>T (n.8917+25C>T)
c.5263+25C>T (n.5263+25C>T)
c.9157+25C>T (n.9157+25C>T)
c.9148+25C>T (n.9148+25C>T)
c.9163+25C>T (n.9163+25C>T)
c.3460+25C>T (n.3460+25C>T)
 gnomAD v4
Xg.31260930G>TCA2579578721DMDc.4132+25C>A (n.4132+25C>A)
c.82+25C>A (n.82+25C>A)
c.1906+25C>A (n.1906+25C>A)
n.803+25C>A
n.385+25C>A
n.804+25C>A
n.2778+25C>A
c.1141+25C>A (n.1141+25C>A)
c.9286+25C>A (n.9286+25C>A)
c.5254+25C>A (n.5254+25C>A)
c.62+25C>A
c.25+25C>A (n.25+25C>A)
n.2947+25C>A
n.216+25C>A
c.1099+25C>A (n.1099+25C>A)
c.2374+25C>A (n.2374+25C>A)
c.9274+25C>A (n.9274+25C>A)
n.305+25C>A
c.9271+25C>A (n.9271+25C>A)
c.9283+25C>A (n.9283+25C>A)
c.9262+25C>A (n.9262+25C>A)
c.8917+25C>A (n.8917+25C>A)
c.5263+25C>A (n.5263+25C>A)
c.9157+25C>A (n.9157+25C>A)
c.9148+25C>A (n.9148+25C>A)
c.9163+25C>A (n.9163+25C>A)
c.3460+25C>A (n.3460+25C>A)
 gnomAD v4
Xg.31260933G>ACA641196081DMDc.4132+22C>T (n.4132+22C>T)
c.82+22C>T (n.82+22C>T)
c.1906+22C>T (n.1906+22C>T)
n.803+22C>T
n.385+22C>T
n.804+22C>T
n.2778+22C>T
c.1141+22C>T (n.1141+22C>T)
c.9286+22C>T (n.9286+22C>T)
c.5254+22C>T (n.5254+22C>T)
c.62+22C>T
c.25+22C>T (n.25+22C>T)
n.2947+22C>T
n.216+22C>T
c.1099+22C>T (n.1099+22C>T)
c.2374+22C>T (n.2374+22C>T)
c.9274+22C>T (n.9274+22C>T)
n.305+22C>T
c.9271+22C>T (n.9271+22C>T)
c.9283+22C>T (n.9283+22C>T)
c.9262+22C>T (n.9262+22C>T)
c.8917+22C>T (n.8917+22C>T)
c.5263+22C>T (n.5263+22C>T)
c.9157+22C>T (n.9157+22C>T)
c.9148+22C>T (n.9148+22C>T)
c.9163+22C>T (n.9163+22C>T)
c.3460+22C>T (n.3460+22C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31260933G=CA2422368475DMDc.4132+22C= (n.4132+22C=)
c.82+22C= (n.82+22C=)
c.1906+22C= (n.1906+22C=)
n.803+22C=
n.385+22C=
n.804+22C=
n.2778+22C=
c.1141+22C= (n.1141+22C=)
c.9286+22C= (n.9286+22C=)
c.5254+22C= (n.5254+22C=)
c.62+22C=
c.25+22C= (n.25+22C=)
n.2947+22C=
n.216+22C=
c.1099+22C= (n.1099+22C=)
c.2374+22C= (n.2374+22C=)
c.9274+22C= (n.9274+22C=)
n.305+22C=
c.9271+22C= (n.9271+22C=)
c.9283+22C= (n.9283+22C=)
c.9262+22C= (n.9262+22C=)
c.8917+22C= (n.8917+22C=)
c.5263+22C= (n.5263+22C=)
c.9157+22C= (n.9157+22C=)
c.9148+22C= (n.9148+22C=)
c.9163+22C= (n.9163+22C=)
c.3460+22C= (n.3460+22C=)
Xg.31260934G>ACA2579578722DMDc.4132+21C>T (n.4132+21C>T)
c.82+21C>T (n.82+21C>T)
c.1906+21C>T (n.1906+21C>T)
n.803+21C>T
n.385+21C>T
n.804+21C>T
n.2778+21C>T
c.1141+21C>T (n.1141+21C>T)
c.9286+21C>T (n.9286+21C>T)
c.5254+21C>T (n.5254+21C>T)
c.62+21C>T
c.25+21C>T (n.25+21C>T)
n.2947+21C>T
n.216+21C>T
c.1099+21C>T (n.1099+21C>T)
c.2374+21C>T (n.2374+21C>T)
c.9274+21C>T (n.9274+21C>T)
n.305+21C>T
c.9271+21C>T (n.9271+21C>T)
c.9283+21C>T (n.9283+21C>T)
c.9262+21C>T (n.9262+21C>T)
c.8917+21C>T (n.8917+21C>T)
c.5263+21C>T (n.5263+21C>T)
c.9157+21C>T (n.9157+21C>T)
c.9148+21C>T (n.9148+21C>T)
c.9163+21C>T (n.9163+21C>T)
c.3460+21C>T (n.3460+21C>T)
Xg.31260938C>ACA2693387404DMDc.4132+17G>T (n.4132+17G>T)
c.82+17G>T (n.82+17G>T)
c.1906+17G>T (n.1906+17G>T)
n.803+17G>T
n.385+17G>T
n.804+17G>T
n.2778+17G>T
c.1141+17G>T (n.1141+17G>T)
c.9286+17G>T (n.9286+17G>T)
c.5254+17G>T (n.5254+17G>T)
c.62+17G>T
c.25+17G>T (n.25+17G>T)
n.2947+17G>T
n.216+17G>T
c.1099+17G>T (n.1099+17G>T)
c.2374+17G>T (n.2374+17G>T)
c.9274+17G>T (n.9274+17G>T)
n.305+17G>T
c.9271+17G>T (n.9271+17G>T)
c.9283+17G>T (n.9283+17G>T)
c.9262+17G>T (n.9262+17G>T)
c.8917+17G>T (n.8917+17G>T)
c.5263+17G>T (n.5263+17G>T)
c.9157+17G>T (n.9157+17G>T)
c.9148+17G>T (n.9148+17G>T)
c.9163+17G>T (n.9163+17G>T)
c.3460+17G>T (n.3460+17G>T)
 ClinVar gnomAD v4
Xg.31260939A=CA2422368476DMDc.4132+16T= (n.4132+16T=)
c.82+16T= (n.82+16T=)
c.1906+16T= (n.1906+16T=)
n.803+16T=
n.385+16T=
n.804+16T=
n.2778+16T=
c.1141+16T= (n.1141+16T=)
c.9286+16T= (n.9286+16T=)
c.5254+16T= (n.5254+16T=)
c.62+16T=
c.25+16T= (n.25+16T=)
n.2947+16T=
n.216+16T=
c.1099+16T= (n.1099+16T=)
c.2374+16T= (n.2374+16T=)
c.9274+16T= (n.9274+16T=)
n.305+16T=
c.9271+16T= (n.9271+16T=)
c.9283+16T= (n.9283+16T=)
c.9262+16T= (n.9262+16T=)
c.8917+16T= (n.8917+16T=)
c.5263+16T= (n.5263+16T=)
c.9157+16T= (n.9157+16T=)
c.9148+16T= (n.9148+16T=)
c.9163+16T= (n.9163+16T=)
c.3460+16T= (n.3460+16T=)
Xg.31260939A>GCA2422368477DMDc.4132+16T>C (n.4132+16T>C)
c.82+16T>C (n.82+16T>C)
c.1906+16T>C (n.1906+16T>C)
n.803+16T>C
n.385+16T>C
n.804+16T>C
n.2778+16T>C
c.1141+16T>C (n.1141+16T>C)
c.9286+16T>C (n.9286+16T>C)
c.5254+16T>C (n.5254+16T>C)
c.62+16T>C
c.25+16T>C (n.25+16T>C)
n.2947+16T>C
n.216+16T>C
c.1099+16T>C (n.1099+16T>C)
c.2374+16T>C (n.2374+16T>C)
c.9274+16T>C (n.9274+16T>C)
n.305+16T>C
c.9271+16T>C (n.9271+16T>C)
c.9283+16T>C (n.9283+16T>C)
c.9262+16T>C (n.9262+16T>C)
c.8917+16T>C (n.8917+16T>C)
c.5263+16T>C (n.5263+16T>C)
c.9157+16T>C (n.9157+16T>C)
c.9148+16T>C (n.9148+16T>C)
c.9163+16T>C (n.9163+16T>C)
c.3460+16T>C (n.3460+16T>C)
 ClinVar dbSNP
Xg.31260940T>CCA2580100553DMDc.4132+15A>G (n.4132+15A>G)
c.82+15A>G (n.82+15A>G)
c.1906+15A>G (n.1906+15A>G)
n.803+15A>G
n.385+15A>G
n.804+15A>G
n.2778+15A>G
c.1141+15A>G (n.1141+15A>G)
c.9286+15A>G (n.9286+15A>G)
c.5254+15A>G (n.5254+15A>G)
c.62+15A>G
c.25+15A>G (n.25+15A>G)
n.2947+15A>G
n.216+15A>G
c.1099+15A>G (n.1099+15A>G)
c.2374+15A>G (n.2374+15A>G)
c.9274+15A>G (n.9274+15A>G)
n.305+15A>G
c.9271+15A>G (n.9271+15A>G)
c.9283+15A>G (n.9283+15A>G)
c.9262+15A>G (n.9262+15A>G)
c.8917+15A>G (n.8917+15A>G)
c.5263+15A>G (n.5263+15A>G)
c.9157+15A>G (n.9157+15A>G)
c.9148+15A>G (n.9148+15A>G)
c.9163+15A>G (n.9163+15A>G)
c.3460+15A>G (n.3460+15A>G)
 ClinVar
Xg.31260941G>TCA2693387405DMDc.4132+14C>A (n.4132+14C>A)
c.82+14C>A (n.82+14C>A)
c.1906+14C>A (n.1906+14C>A)
n.803+14C>A
n.385+14C>A
n.804+14C>A
n.2778+14C>A
c.1141+14C>A (n.1141+14C>A)
c.9286+14C>A (n.9286+14C>A)
c.5254+14C>A (n.5254+14C>A)
c.62+14C>A
c.25+14C>A (n.25+14C>A)
n.2947+14C>A
n.216+14C>A
c.1099+14C>A (n.1099+14C>A)
c.2374+14C>A (n.2374+14C>A)
c.9274+14C>A (n.9274+14C>A)
n.305+14C>A
c.9271+14C>A (n.9271+14C>A)
c.9283+14C>A (n.9283+14C>A)
c.9262+14C>A (n.9262+14C>A)
c.8917+14C>A (n.8917+14C>A)
c.5263+14C>A (n.5263+14C>A)
c.9157+14C>A (n.9157+14C>A)
c.9148+14C>A (n.9148+14C>A)
c.9163+14C>A (n.9163+14C>A)
c.3460+14C>A (n.3460+14C>A)
 ClinVar gnomAD v4
Xg.31260942G>ACA10377845DMDc.4132+13C>T (n.4132+13C>T)
c.82+13C>T (n.82+13C>T)
c.1906+13C>T (n.1906+13C>T)
n.803+13C>T
n.385+13C>T
n.804+13C>T
n.2778+13C>T
c.1141+13C>T (n.1141+13C>T)
c.9286+13C>T (n.9286+13C>T)
c.5254+13C>T (n.5254+13C>T)
c.62+13C>T
c.25+13C>T (n.25+13C>T)
n.2947+13C>T
n.216+13C>T
c.1099+13C>T (n.1099+13C>T)
c.2374+13C>T (n.2374+13C>T)
c.9274+13C>T (n.9274+13C>T)
n.305+13C>T
c.9271+13C>T (n.9271+13C>T)
c.9283+13C>T (n.9283+13C>T)
c.9262+13C>T (n.9262+13C>T)
c.8917+13C>T (n.8917+13C>T)
c.5263+13C>T (n.5263+13C>T)
c.9157+13C>T (n.9157+13C>T)
c.9148+13C>T (n.9148+13C>T)
c.9163+13C>T (n.9163+13C>T)
c.3460+13C>T (n.3460+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31260942G=CA2422368478DMDc.4132+13C= (n.4132+13C=)
c.82+13C= (n.82+13C=)
c.1906+13C= (n.1906+13C=)
n.803+13C=
n.385+13C=
n.804+13C=
n.2778+13C=
c.1141+13C= (n.1141+13C=)
c.9286+13C= (n.9286+13C=)
c.5254+13C= (n.5254+13C=)
c.62+13C=
c.25+13C= (n.25+13C=)
n.2947+13C=
n.216+13C=
c.1099+13C= (n.1099+13C=)
c.2374+13C= (n.2374+13C=)
c.9274+13C= (n.9274+13C=)
n.305+13C=
c.9271+13C= (n.9271+13C=)
c.9283+13C= (n.9283+13C=)
c.9262+13C= (n.9262+13C=)
c.8917+13C= (n.8917+13C=)
c.5263+13C= (n.5263+13C=)
c.9157+13C= (n.9157+13C=)
c.9148+13C= (n.9148+13C=)
c.9163+13C= (n.9163+13C=)
c.3460+13C= (n.3460+13C=)
Xg.31260943C=CA2422368479DMDc.4132+12G= (n.4132+12G=)
c.82+12G= (n.82+12G=)
c.1906+12G= (n.1906+12G=)
n.803+12G=
n.385+12G=
n.804+12G=
n.2778+12G=
c.1141+12G= (n.1141+12G=)
c.9286+12G= (n.9286+12G=)
c.5254+12G= (n.5254+12G=)
c.62+12G=
c.25+12G= (n.25+12G=)
n.2947+12G=
n.216+12G=
c.1099+12G= (n.1099+12G=)
c.2374+12G= (n.2374+12G=)
c.9274+12G= (n.9274+12G=)
n.305+12G=
c.9271+12G= (n.9271+12G=)
c.9283+12G= (n.9283+12G=)
c.9262+12G= (n.9262+12G=)
c.8917+12G= (n.8917+12G=)
c.5263+12G= (n.5263+12G=)
c.9157+12G= (n.9157+12G=)
c.9148+12G= (n.9148+12G=)
c.9163+12G= (n.9163+12G=)
c.3460+12G= (n.3460+12G=)
Xg.31260943C>TCA641196082DMDc.4132+12G>A (n.4132+12G>A)
c.82+12G>A (n.82+12G>A)
c.1906+12G>A (n.1906+12G>A)
n.803+12G>A
n.385+12G>A
n.804+12G>A
n.2778+12G>A
c.1141+12G>A (n.1141+12G>A)
c.9286+12G>A (n.9286+12G>A)
c.5254+12G>A (n.5254+12G>A)
c.62+12G>A
c.25+12G>A (n.25+12G>A)
n.2947+12G>A
n.216+12G>A
c.1099+12G>A (n.1099+12G>A)
c.2374+12G>A (n.2374+12G>A)
c.9274+12G>A (n.9274+12G>A)
n.305+12G>A
c.9271+12G>A (n.9271+12G>A)
c.9283+12G>A (n.9283+12G>A)
c.9262+12G>A (n.9262+12G>A)
c.8917+12G>A (n.8917+12G>A)
c.5263+12G>A (n.5263+12G>A)
c.9157+12G>A (n.9157+12G>A)
c.9148+12G>A (n.9148+12G>A)
c.9163+12G>A (n.9163+12G>A)
c.3460+12G>A (n.3460+12G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31260944C=CA2422368480DMDc.4132+11G= (n.4132+11G=)
c.82+11G= (n.82+11G=)
c.1906+11G= (n.1906+11G=)
n.803+11G=
n.385+11G=
n.804+11G=
n.2778+11G=
c.1141+11G= (n.1141+11G=)
c.9286+11G= (n.9286+11G=)
c.5254+11G= (n.5254+11G=)
c.62+11G=
c.25+11G= (n.25+11G=)
n.2947+11G=
n.216+11G=
c.1099+11G= (n.1099+11G=)
c.2374+11G= (n.2374+11G=)
c.9274+11G= (n.9274+11G=)
n.305+11G=
c.9271+11G= (n.9271+11G=)
c.9283+11G= (n.9283+11G=)
c.9262+11G= (n.9262+11G=)
c.8917+11G= (n.8917+11G=)
c.5263+11G= (n.5263+11G=)
c.9157+11G= (n.9157+11G=)
c.9148+11G= (n.9148+11G=)
c.9163+11G= (n.9163+11G=)
c.3460+11G= (n.3460+11G=)
Xg.31260944C>GCA10377846DMDc.4132+11G>C (n.4132+11G>C)
c.82+11G>C (n.82+11G>C)
c.1906+11G>C (n.1906+11G>C)
n.803+11G>C
n.385+11G>C
n.804+11G>C
n.2778+11G>C
c.1141+11G>C (n.1141+11G>C)
c.9286+11G>C (n.9286+11G>C)
c.5254+11G>C (n.5254+11G>C)
c.62+11G>C
c.25+11G>C (n.25+11G>C)
n.2947+11G>C
n.216+11G>C
c.1099+11G>C (n.1099+11G>C)
c.2374+11G>C (n.2374+11G>C)
c.9274+11G>C (n.9274+11G>C)
n.305+11G>C
c.9271+11G>C (n.9271+11G>C)
c.9283+11G>C (n.9283+11G>C)
c.9262+11G>C (n.9262+11G>C)
c.8917+11G>C (n.8917+11G>C)
c.5263+11G>C (n.5263+11G>C)
c.9157+11G>C (n.9157+11G>C)
c.9148+11G>C (n.9148+11G>C)
c.9163+11G>C (n.9163+11G>C)
c.3460+11G>C (n.3460+11G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31260944C>TCA874637445DMDc.4132+11G>A (n.4132+11G>A)
c.82+11G>A (n.82+11G>A)
c.1906+11G>A (n.1906+11G>A)
n.803+11G>A
n.385+11G>A
n.804+11G>A
n.2778+11G>A
c.1141+11G>A (n.1141+11G>A)
c.9286+11G>A (n.9286+11G>A)
c.5254+11G>A (n.5254+11G>A)
c.62+11G>A
c.25+11G>A (n.25+11G>A)
n.2947+11G>A
n.216+11G>A
c.1099+11G>A (n.1099+11G>A)
c.2374+11G>A (n.2374+11G>A)
c.9274+11G>A (n.9274+11G>A)
n.305+11G>A
c.9271+11G>A (n.9271+11G>A)
c.9283+11G>A (n.9283+11G>A)
c.9262+11G>A (n.9262+11G>A)
c.8917+11G>A (n.8917+11G>A)
c.5263+11G>A (n.5263+11G>A)
c.9157+11G>A (n.9157+11G>A)
c.9148+11G>A (n.9148+11G>A)
c.9163+11G>A (n.9163+11G>A)
c.3460+11G>A (n.3460+11G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31260945A>GCA2693387406DMDc.4132+10T>C (n.4132+10T>C)
c.82+10T>C (n.82+10T>C)
c.1906+10T>C (n.1906+10T>C)
n.803+10T>C
n.385+10T>C
n.804+10T>C
n.2778+10T>C
c.1141+10T>C (n.1141+10T>C)
c.9286+10T>C (n.9286+10T>C)
c.5254+10T>C (n.5254+10T>C)
c.62+10T>C
c.25+10T>C (n.25+10T>C)
n.2947+10T>C
n.216+10T>C
c.1099+10T>C (n.1099+10T>C)
c.2374+10T>C (n.2374+10T>C)
c.9274+10T>C (n.9274+10T>C)
n.305+10T>C
c.9271+10T>C (n.9271+10T>C)
c.9283+10T>C (n.9283+10T>C)
c.9262+10T>C (n.9262+10T>C)
c.8917+10T>C (n.8917+10T>C)
c.5263+10T>C (n.5263+10T>C)
c.9157+10T>C (n.9157+10T>C)
c.9148+10T>C (n.9148+10T>C)
c.9163+10T>C (n.9163+10T>C)
c.3460+10T>C (n.3460+10T>C)
 gnomAD v4
Xg.31260945A>TCA2573158742DMDc.4132+10T>A (n.4132+10T>A)
c.82+10T>A (n.82+10T>A)
c.1906+10T>A (n.1906+10T>A)
n.803+10T>A
n.385+10T>A
n.804+10T>A
n.2778+10T>A
c.1141+10T>A (n.1141+10T>A)
c.9286+10T>A (n.9286+10T>A)
c.5254+10T>A (n.5254+10T>A)
c.62+10T>A
c.25+10T>A (n.25+10T>A)
n.2947+10T>A
n.216+10T>A
c.1099+10T>A (n.1099+10T>A)
c.2374+10T>A (n.2374+10T>A)
c.9274+10T>A (n.9274+10T>A)
n.305+10T>A
c.9271+10T>A (n.9271+10T>A)
c.9283+10T>A (n.9283+10T>A)
c.9262+10T>A (n.9262+10T>A)
c.8917+10T>A (n.8917+10T>A)
c.5263+10T>A (n.5263+10T>A)
c.9157+10T>A (n.9157+10T>A)
c.9148+10T>A (n.9148+10T>A)
c.9163+10T>A (n.9163+10T>A)
c.3460+10T>A (n.3460+10T>A)
 ClinVar dbSNP
Xg.31260946T>CCA641196083DMDc.4132+9A>G (n.4132+9A>G)
c.82+9A>G (n.82+9A>G)
c.1906+9A>G (n.1906+9A>G)
n.803+9A>G
n.385+9A>G
n.804+9A>G
n.2778+9A>G
c.1141+9A>G (n.1141+9A>G)
c.9286+9A>G (n.9286+9A>G)
c.5254+9A>G (n.5254+9A>G)
c.62+9A>G
c.25+9A>G (n.25+9A>G)
n.2947+9A>G
n.216+9A>G
c.1099+9A>G (n.1099+9A>G)
c.2374+9A>G (n.2374+9A>G)
c.9274+9A>G (n.9274+9A>G)
n.305+9A>G
c.9271+9A>G (n.9271+9A>G)
c.9283+9A>G (n.9283+9A>G)
c.9262+9A>G (n.9262+9A>G)
c.8917+9A>G (n.8917+9A>G)
c.5263+9A>G (n.5263+9A>G)
c.9157+9A>G (n.9157+9A>G)
c.9148+9A>G (n.9148+9A>G)
c.9163+9A>G (n.9163+9A>G)
c.3460+9A>G (n.3460+9A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31260946T>GCA2422368482DMDc.4132+9A>C (n.4132+9A>C)
c.82+9A>C (n.82+9A>C)
c.1906+9A>C (n.1906+9A>C)
n.803+9A>C
n.385+9A>C
n.804+9A>C
n.2778+9A>C
c.1141+9A>C (n.1141+9A>C)
c.9286+9A>C (n.9286+9A>C)
c.5254+9A>C (n.5254+9A>C)
c.62+9A>C
c.25+9A>C (n.25+9A>C)
n.2947+9A>C
n.216+9A>C
c.1099+9A>C (n.1099+9A>C)
c.2374+9A>C (n.2374+9A>C)
c.9274+9A>C (n.9274+9A>C)
n.305+9A>C
c.9271+9A>C (n.9271+9A>C)
c.9283+9A>C (n.9283+9A>C)
c.9262+9A>C (n.9262+9A>C)
c.8917+9A>C (n.8917+9A>C)
c.5263+9A>C (n.5263+9A>C)
c.9157+9A>C (n.9157+9A>C)
c.9148+9A>C (n.9148+9A>C)
c.9163+9A>C (n.9163+9A>C)
c.3460+9A>C (n.3460+9A>C)
 dbSNP
Xg.31260946T=CA2422368481DMDc.4132+9A= (n.4132+9A=)
c.82+9A= (n.82+9A=)
c.1906+9A= (n.1906+9A=)
n.803+9A=
n.385+9A=
n.804+9A=
n.2778+9A=
c.1141+9A= (n.1141+9A=)
c.9286+9A= (n.9286+9A=)
c.5254+9A= (n.5254+9A=)
c.62+9A=
c.25+9A= (n.25+9A=)
n.2947+9A=
n.216+9A=
c.1099+9A= (n.1099+9A=)
c.2374+9A= (n.2374+9A=)
c.9274+9A= (n.9274+9A=)
n.305+9A=
c.9271+9A= (n.9271+9A=)
c.9283+9A= (n.9283+9A=)
c.9262+9A= (n.9262+9A=)
c.8917+9A= (n.8917+9A=)
c.5263+9A= (n.5263+9A=)
c.9157+9A= (n.9157+9A=)
c.9148+9A= (n.9148+9A=)
c.9163+9A= (n.9163+9A=)
c.3460+9A= (n.3460+9A=)
Xg.31260949C=CA2422368483DMDc.4132+6G= (n.4132+6G=)
c.82+6G= (n.82+6G=)
c.1906+6G= (n.1906+6G=)
n.803+6G=
n.385+6G=
n.804+6G=
n.2778+6G=
c.1141+6G= (n.1141+6G=)
c.9286+6G= (n.9286+6G=)
c.5254+6G= (n.5254+6G=)
c.62+6G=
c.25+6G= (n.25+6G=)
n.2947+6G=
n.216+6G=
c.1099+6G= (n.1099+6G=)
c.2374+6G= (n.2374+6G=)
c.9274+6G= (n.9274+6G=)
n.305+6G=
c.9271+6G= (n.9271+6G=)
c.9283+6G= (n.9283+6G=)
c.9262+6G= (n.9262+6G=)
c.8917+6G= (n.8917+6G=)
c.5263+6G= (n.5263+6G=)
c.9157+6G= (n.9157+6G=)
c.9148+6G= (n.9148+6G=)
c.9163+6G= (n.9163+6G=)
c.3460+6G= (n.3460+6G=)
Xg.31260949C>GCA246921DMDc.4132+6G>C (n.4132+6G>C)
c.82+6G>C (n.82+6G>C)
c.1906+6G>C (n.1906+6G>C)
n.803+6G>C
n.385+6G>C
n.804+6G>C
n.2778+6G>C
c.1141+6G>C (n.1141+6G>C)
c.9286+6G>C (n.9286+6G>C)
c.5254+6G>C (n.5254+6G>C)
c.62+6G>C
c.25+6G>C (n.25+6G>C)
n.2947+6G>C
n.216+6G>C
c.1099+6G>C (n.1099+6G>C)
c.2374+6G>C (n.2374+6G>C)
c.9274+6G>C (n.9274+6G>C)
n.305+6G>C
c.9271+6G>C (n.9271+6G>C)
c.9283+6G>C (n.9283+6G>C)
c.9262+6G>C (n.9262+6G>C)
c.8917+6G>C (n.8917+6G>C)
c.5263+6G>C (n.5263+6G>C)
c.9157+6G>C (n.9157+6G>C)
c.9148+6G>C (n.9148+6G>C)
c.9163+6G>C (n.9163+6G>C)
c.3460+6G>C (n.3460+6G>C)
 ClinVar dbSNP
Xg.31260952T>ACA916081245DMDc.4132+3A>T (n.4132+3A>T)
c.82+3A>T (n.82+3A>T)
c.1906+3A>T (n.1906+3A>T)
n.803+3A>T
n.385+3A>T
n.804+3A>T
n.2778+3A>T
c.1141+3A>T (n.1141+3A>T)
c.9286+3A>T (n.9286+3A>T)
c.5254+3A>T (n.5254+3A>T)
c.62+3A>T
c.25+3A>T (n.25+3A>T)
n.2947+3A>T
n.216+3A>T
c.1099+3A>T (n.1099+3A>T)
c.2374+3A>T (n.2374+3A>T)
c.9274+3A>T (n.9274+3A>T)
n.305+3A>T
c.9271+3A>T (n.9271+3A>T)
c.9283+3A>T (n.9283+3A>T)
c.9262+3A>T (n.9262+3A>T)
c.8917+3A>T (n.8917+3A>T)
c.5263+3A>T (n.5263+3A>T)
c.9157+3A>T (n.9157+3A>T)
c.9148+3A>T (n.9148+3A>T)
c.9163+3A>T (n.9163+3A>T)
c.3460+3A>T (n.3460+3A>T)
 ClinVar dbSNP
Xg.31260952T=CA2422368484DMDc.4132+3A= (n.4132+3A=)
c.82+3A= (n.82+3A=)
c.1906+3A= (n.1906+3A=)
n.803+3A=
n.385+3A=
n.804+3A=
n.2778+3A=
c.1141+3A= (n.1141+3A=)
c.9286+3A= (n.9286+3A=)
c.5254+3A= (n.5254+3A=)
c.62+3A=
c.25+3A= (n.25+3A=)
n.2947+3A=
n.216+3A=
c.1099+3A= (n.1099+3A=)
c.2374+3A= (n.2374+3A=)
c.9274+3A= (n.9274+3A=)
n.305+3A=
c.9271+3A= (n.9271+3A=)
c.9283+3A= (n.9283+3A=)
c.9262+3A= (n.9262+3A=)
c.8917+3A= (n.8917+3A=)
c.5263+3A= (n.5263+3A=)
c.9157+3A= (n.9157+3A=)
c.9148+3A= (n.9148+3A=)
c.9163+3A= (n.9163+3A=)
c.3460+3A= (n.3460+3A=)
Xg.31260953A>CCA412652421DMDc.4132+2T>G (n.4132+2T>G)
c.82+2T>G (n.82+2T>G)
c.1906+2T>G (n.1906+2T>G)
n.803+2T>G
n.385+2T>G
n.804+2T>G
n.2778+2T>G
c.1141+2T>G (n.1141+2T>G)
c.9286+2T>G (n.9286+2T>G)
c.5254+2T>G (n.5254+2T>G)
c.62+2T>G
c.25+2T>G (n.25+2T>G)
n.2947+2T>G
n.216+2T>G
c.1099+2T>G (n.1099+2T>G)
c.2374+2T>G (n.2374+2T>G)
c.9274+2T>G (n.9274+2T>G)
n.305+2T>G
c.9271+2T>G (n.9271+2T>G)
c.9283+2T>G (n.9283+2T>G)
c.9262+2T>G (n.9262+2T>G)
c.8917+2T>G (n.8917+2T>G)
c.5263+2T>G (n.5263+2T>G)
c.9157+2T>G (n.9157+2T>G)
c.9148+2T>G (n.9148+2T>G)
c.9163+2T>G (n.9163+2T>G)
c.3460+2T>G (n.3460+2T>G)
 ClinVar
Xg.31260953A>GCA412652419DMDc.4132+2T>C (n.4132+2T>C)
c.82+2T>C (n.82+2T>C)
c.1906+2T>C (n.1906+2T>C)
n.803+2T>C
n.385+2T>C
n.804+2T>C
n.2778+2T>C
c.1141+2T>C (n.1141+2T>C)
c.9286+2T>C (n.9286+2T>C)
c.5254+2T>C (n.5254+2T>C)
c.62+2T>C
c.25+2T>C (n.25+2T>C)
n.2947+2T>C
n.216+2T>C
c.1099+2T>C (n.1099+2T>C)
c.2374+2T>C (n.2374+2T>C)
c.9274+2T>C (n.9274+2T>C)
n.305+2T>C
c.9271+2T>C (n.9271+2T>C)
c.9283+2T>C (n.9283+2T>C)
c.9262+2T>C (n.9262+2T>C)
c.8917+2T>C (n.8917+2T>C)
c.5263+2T>C (n.5263+2T>C)
c.9157+2T>C (n.9157+2T>C)
c.9148+2T>C (n.9148+2T>C)
c.9163+2T>C (n.9163+2T>C)
c.3460+2T>C (n.3460+2T>C)
Xg.31260953A>TCA412652420DMDc.4132+2T>A (n.4132+2T>A)
c.82+2T>A (n.82+2T>A)
c.1906+2T>A (n.1906+2T>A)
n.803+2T>A
n.385+2T>A
n.804+2T>A
n.2778+2T>A
c.1141+2T>A (n.1141+2T>A)
c.9286+2T>A (n.9286+2T>A)
c.5254+2T>A (n.5254+2T>A)
c.62+2T>A
c.25+2T>A (n.25+2T>A)
n.2947+2T>A
n.216+2T>A
c.1099+2T>A (n.1099+2T>A)
c.2374+2T>A (n.2374+2T>A)
c.9274+2T>A (n.9274+2T>A)
n.305+2T>A
c.9271+2T>A (n.9271+2T>A)
c.9283+2T>A (n.9283+2T>A)
c.9262+2T>A (n.9262+2T>A)
c.8917+2T>A (n.8917+2T>A)
c.5263+2T>A (n.5263+2T>A)
c.9157+2T>A (n.9157+2T>A)
c.9148+2T>A (n.9148+2T>A)
c.9163+2T>A (n.9163+2T>A)
c.3460+2T>A (n.3460+2T>A)
Xg.31260955_31260962delCA2573158743DMDc.4127_4132+2del
c.77_82+2del
c.1901_1906+2del
n.798_803+2del
n.380_385+2del
n.799_804+2del
n.2773_2778+2del
c.1136_1141+2del
c.9281_9286+2del
c.5249_5254+2del
c.57_62+2del
c.20_25+2del
n.2942_2947+2del
n.211_216+2del
c.1094_1099+2del
c.2369_2374+2del
c.9269_9274+2del
n.300_305+2del
c.9266_9271+2del
c.9278_9283+2del
c.9257_9262+2del
c.8912_8917+2del
c.5258_5263+2del
c.9152_9157+2del
c.9143_9148+2del
c.9158_9163+2del
c.3455_3460+2del
 ClinVar dbSNP
Xg.31260954C>ACA412652422DMDc.4132+1G>T (n.4132+1G>T)
c.82+1G>T (n.82+1G>T)
c.1906+1G>T (n.1906+1G>T)
n.803+1G>T
n.385+1G>T
n.804+1G>T
n.2778+1G>T
c.1141+1G>T (n.1141+1G>T)
c.9286+1G>T (n.9286+1G>T)
c.5254+1G>T (n.5254+1G>T)
c.62+1G>T
c.25+1G>T (n.25+1G>T)
n.2947+1G>T
n.216+1G>T
c.1099+1G>T (n.1099+1G>T)
c.2374+1G>T (n.2374+1G>T)
c.9274+1G>T (n.9274+1G>T)
n.305+1G>T
c.9271+1G>T (n.9271+1G>T)
c.9283+1G>T (n.9283+1G>T)
c.9262+1G>T (n.9262+1G>T)
c.8917+1G>T (n.8917+1G>T)
c.5263+1G>T (n.5263+1G>T)
c.9157+1G>T (n.9157+1G>T)
c.9148+1G>T (n.9148+1G>T)
c.9163+1G>T (n.9163+1G>T)
c.3460+1G>T (n.3460+1G>T)
Xg.31260954C>GCA412652423DMDc.4132+1G>C (n.4132+1G>C)
c.82+1G>C (n.82+1G>C)
c.1906+1G>C (n.1906+1G>C)
n.803+1G>C
n.385+1G>C
n.804+1G>C
n.2778+1G>C
c.1141+1G>C (n.1141+1G>C)
c.9286+1G>C (n.9286+1G>C)
c.5254+1G>C (n.5254+1G>C)
c.62+1G>C
c.25+1G>C (n.25+1G>C)
n.2947+1G>C
n.216+1G>C
c.1099+1G>C (n.1099+1G>C)
c.2374+1G>C (n.2374+1G>C)
c.9274+1G>C (n.9274+1G>C)
n.305+1G>C
c.9271+1G>C (n.9271+1G>C)
c.9283+1G>C (n.9283+1G>C)
c.9262+1G>C (n.9262+1G>C)
c.8917+1G>C (n.8917+1G>C)
c.5263+1G>C (n.5263+1G>C)
c.9157+1G>C (n.9157+1G>C)
c.9148+1G>C (n.9148+1G>C)
c.9163+1G>C (n.9163+1G>C)
c.3460+1G>C (n.3460+1G>C)
Xg.31260954C>TCA412652424DMDc.4132+1G>A (n.4132+1G>A)
c.82+1G>A (n.82+1G>A)
c.1906+1G>A (n.1906+1G>A)
n.803+1G>A
n.385+1G>A
n.804+1G>A
n.2778+1G>A
c.1141+1G>A (n.1141+1G>A)
c.9286+1G>A (n.9286+1G>A)
c.5254+1G>A (n.5254+1G>A)
c.62+1G>A
c.25+1G>A (n.25+1G>A)
n.2947+1G>A
n.216+1G>A
c.1099+1G>A (n.1099+1G>A)
c.2374+1G>A (n.2374+1G>A)
c.9274+1G>A (n.9274+1G>A)
n.305+1G>A
c.9271+1G>A (n.9271+1G>A)
c.9283+1G>A (n.9283+1G>A)
c.9262+1G>A (n.9262+1G>A)
c.8917+1G>A (n.8917+1G>A)
c.5263+1G>A (n.5263+1G>A)
c.9157+1G>A (n.9157+1G>A)
c.9148+1G>A (n.9148+1G>A)
c.9163+1G>A (n.9163+1G>A)
c.3460+1G>A (n.3460+1G>A)
Xg.31260955C>ACA412652425DMDc.4132G>T (p.Ala1378Ser)
c.82G>T (p.Ala28Ser)
c.1906G>T (p.Ala636Ser)
n.803G>T
n.385G>T
n.804G>T
n.2778G>T
c.1141G>T (p.Ala381Ser)
c.9286G>T (p.Ala3096Ser)
c.5254G>T (p.Ala1752Ser)
c.62G>T
c.25G>T (p.Ala9Ser)
n.2947G>T
n.216G>T
c.1099G>T (p.Ala367Ser)
c.2374G>T (p.Ala792Ser)
c.9274G>T (p.Ala3092Ser)
n.305G>T
c.9271G>T (p.Ala3091Ser)
c.9283G>T (p.Ala3095Ser)
c.9262G>T (p.Ala3088Ser)
c.8917G>T (p.Ala2973Ser)
c.5263G>T (p.Ala1755Ser)
c.9157G>T (p.Ala3053Ser)
c.9148G>T (p.Ala3050Ser)
c.9163G>T (p.Ala3055Ser)
c.3460G>T (p.Ala1154Ser)
Xg.31260955C>GCA412652426DMDc.4132G>C (p.Ala1378Pro)
c.82G>C (p.Ala28Pro)
c.1906G>C (p.Ala636Pro)
n.803G>C
n.385G>C
n.804G>C
n.2778G>C
c.1141G>C (p.Ala381Pro)
c.9286G>C (p.Ala3096Pro)
c.5254G>C (p.Ala1752Pro)
c.62G>C
c.25G>C (p.Ala9Pro)
n.2947G>C
n.216G>C
c.1099G>C (p.Ala367Pro)
c.2374G>C (p.Ala792Pro)
c.9274G>C (p.Ala3092Pro)
n.305G>C
c.9271G>C (p.Ala3091Pro)
c.9283G>C (p.Ala3095Pro)
c.9262G>C (p.Ala3088Pro)
c.8917G>C (p.Ala2973Pro)
c.5263G>C (p.Ala1755Pro)
c.9157G>C (p.Ala3053Pro)
c.9148G>C (p.Ala3050Pro)
c.9163G>C (p.Ala3055Pro)
c.3460G>C (p.Ala1154Pro)
Xg.31260955C>TCA412652427DMDc.4132G>A (p.Ala1378Thr)
c.82G>A (p.Ala28Thr)
c.1906G>A (p.Ala636Thr)
n.803G>A
n.385G>A
n.804G>A
n.2778G>A
c.1141G>A (p.Ala381Thr)
c.9286G>A (p.Ala3096Thr)
c.5254G>A (p.Ala1752Thr)
c.62G>A
c.25G>A (p.Ala9Thr)
n.2947G>A
n.216G>A
c.1099G>A (p.Ala367Thr)
c.2374G>A (p.Ala792Thr)
c.9274G>A (p.Ala3092Thr)
n.305G>A
c.9271G>A (p.Ala3091Thr)
c.9283G>A (p.Ala3095Thr)
c.9262G>A (p.Ala3088Thr)
c.8917G>A (p.Ala2973Thr)
c.5263G>A (p.Ala1755Thr)
c.9157G>A (p.Ala3053Thr)
c.9148G>A (p.Ala3050Thr)
c.9163G>A (p.Ala3055Thr)
c.3460G>A (p.Ala1154Thr)
Xg.31260956T>ACA412652428DMDc.4131A>T (p.Leu1377Phe)
c.81A>T (p.Leu27Phe)
c.1905A>T (p.Leu635Phe)
n.802A>T
n.384A>T
n.803A>T
n.2777A>T
c.1140A>T (p.Leu380Phe)
c.9285A>T (p.Leu3095Phe)
c.5253A>T (p.Leu1751Phe)
c.61A>T
c.24A>T (p.Leu8Phe)
n.2946A>T
n.215A>T
c.1098A>T (p.Leu366Phe)
c.2373A>T (p.Leu791Phe)
c.9273A>T (p.Leu3091Phe)
n.304A>T
c.9270A>T (p.Leu3090Phe)
c.9282A>T (p.Leu3094Phe)
c.9261A>T (p.Leu3087Phe)
c.8916A>T (p.Leu2972Phe)
c.5262A>T (p.Leu1754Phe)
c.9156A>T (p.Leu3052Phe)
c.9147A>T (p.Leu3049Phe)
c.9162A>T (p.Leu3054Phe)
c.3459A>T (p.Leu1153Phe)
Xg.31260956T>CCA515858520DMDc.4131A>G (p.Leu1377=)
c.81A>G (p.Leu27=)
c.1905A>G (p.Leu635=)
n.802A>G
n.384A>G
n.803A>G
n.2777A>G
c.1140A>G (p.Leu380=)
c.9285A>G (p.Leu3095=)
c.5253A>G (p.Leu1751=)
c.61A>G
c.24A>G (p.Leu8=)
n.2946A>G
n.215A>G
c.1098A>G (p.Leu366=)
c.2373A>G (p.Leu791=)
c.9273A>G (p.Leu3091=)
n.304A>G
c.9270A>G (p.Leu3090=)
c.9282A>G (p.Leu3094=)
c.9261A>G (p.Leu3087=)
c.8916A>G (p.Leu2972=)
c.5262A>G (p.Leu1754=)
c.9156A>G (p.Leu3052=)
c.9147A>G (p.Leu3049=)
c.9162A>G (p.Leu3054=)
c.3459A>G (p.Leu1153=)
Xg.31260956T>GCA10377847DMDc.4131A>C (p.Leu1377Phe)
c.81A>C (p.Leu27Phe)
c.1905A>C (p.Leu635Phe)
n.802A>C
n.384A>C
n.803A>C
n.2777A>C
c.1140A>C (p.Leu380Phe)
c.9285A>C (p.Leu3095Phe)
c.5253A>C (p.Leu1751Phe)
c.61A>C
c.24A>C (p.Leu8Phe)
n.2946A>C
n.215A>C
c.1098A>C (p.Leu366Phe)
c.2373A>C (p.Leu791Phe)
c.9273A>C (p.Leu3091Phe)
n.304A>C
c.9270A>C (p.Leu3090Phe)
c.9282A>C (p.Leu3094Phe)
c.9261A>C (p.Leu3087Phe)
c.8916A>C (p.Leu2972Phe)
c.5262A>C (p.Leu1754Phe)
c.9156A>C (p.Leu3052Phe)
c.9147A>C (p.Leu3049Phe)
c.9162A>C (p.Leu3054Phe)
c.3459A>C (p.Leu1153Phe)
 dbSNP ExAC gnomAD v2
Xg.31260956T=CA2422368485DMDc.4131A= (p.Leu1377=)
c.81A= (p.Leu27=)
c.1905A= (p.Leu635=)
n.802A=
n.384A=
n.803A=
n.2777A=
c.1140A= (p.Leu380=)
c.9285A= (p.Leu3095=)
c.5253A= (p.Leu1751=)
c.61A=
c.24A= (p.Leu8=)
n.2946A=
n.215A=
c.1098A= (p.Leu366=)
c.2373A= (p.Leu791=)
c.9273A= (p.Leu3091=)
n.304A=
c.9270A= (p.Leu3090=)
c.9282A= (p.Leu3094=)
c.9261A= (p.Leu3087=)
c.8916A= (p.Leu2972=)
c.5262A= (p.Leu1754=)
c.9156A= (p.Leu3052=)
c.9147A= (p.Leu3049=)
c.9162A= (p.Leu3054=)
c.3459A= (p.Leu1153=)
Xg.31260957A>CCA412652429DMDc.4130T>G (p.Leu1377Ter)
c.80T>G (p.Leu27Ter)
c.1904T>G (p.Leu635Ter)
n.801T>G
n.383T>G
n.802T>G
n.2776T>G
c.1139T>G (p.Leu380Ter)
c.9284T>G (p.Leu3095Ter)
c.5252T>G (p.Leu1751Ter)
c.60T>G
c.23T>G (p.Leu8Ter)
n.2945T>G
n.214T>G
c.1097T>G (p.Leu366Ter)
c.2372T>G (p.Leu791Ter)
c.9272T>G (p.Leu3091Ter)
n.303T>G
c.9269T>G (p.Leu3090Ter)
c.9281T>G (p.Leu3094Ter)
c.9260T>G (p.Leu3087Ter)
c.8915T>G (p.Leu2972Ter)
c.5261T>G (p.Leu1754Ter)
c.9155T>G (p.Leu3052Ter)
c.9146T>G (p.Leu3049Ter)
c.9161T>G (p.Leu3054Ter)
c.3458T>G (p.Leu1153Ter)
 dbSNP
Xg.31260957A>GCA412652430DMDc.4130T>C (p.Leu1377Ser)
c.80T>C (p.Leu27Ser)
c.1904T>C (p.Leu635Ser)
n.801T>C
n.383T>C
n.802T>C
n.2776T>C
c.1139T>C (p.Leu380Ser)
c.9284T>C (p.Leu3095Ser)
c.5252T>C (p.Leu1751Ser)
c.60T>C
c.23T>C (p.Leu8Ser)
n.2945T>C
n.214T>C
c.1097T>C (p.Leu366Ser)
c.2372T>C (p.Leu791Ser)
c.9272T>C (p.Leu3091Ser)
n.303T>C
c.9269T>C (p.Leu3090Ser)
c.9281T>C (p.Leu3094Ser)
c.9260T>C (p.Leu3087Ser)
c.8915T>C (p.Leu2972Ser)
c.5261T>C (p.Leu1754Ser)
c.9155T>C (p.Leu3052Ser)
c.9146T>C (p.Leu3049Ser)
c.9161T>C (p.Leu3054Ser)
c.3458T>C (p.Leu1153Ser)
Xg.31260957A>TCA412652431DMDc.4130T>A (p.Leu1377Ter)
c.80T>A (p.Leu27Ter)
c.1904T>A (p.Leu635Ter)
n.801T>A
n.383T>A
n.802T>A
n.2776T>A
c.1139T>A (p.Leu380Ter)
c.9284T>A (p.Leu3095Ter)
c.5252T>A (p.Leu1751Ter)
c.60T>A
c.23T>A (p.Leu8Ter)
n.2945T>A
n.214T>A
c.1097T>A (p.Leu366Ter)
c.2372T>A (p.Leu791Ter)
c.9272T>A (p.Leu3091Ter)
n.303T>A
c.9269T>A (p.Leu3090Ter)
c.9281T>A (p.Leu3094Ter)
c.9260T>A (p.Leu3087Ter)
c.8915T>A (p.Leu2972Ter)
c.5261T>A (p.Leu1754Ter)
c.9155T>A (p.Leu3052Ter)
c.9146T>A (p.Leu3049Ter)
c.9161T>A (p.Leu3054Ter)
c.3458T>A (p.Leu1153Ter)
 ClinVar
Xg.31260958_31260959delCA2573158744DMDc.4129_4130del (p.Leu1377SerfsTer2)
c.79_80del (p.Leu27SerfsTer2)
c.1903_1904del (p.Leu635SerfsTer2)
n.800_801del
n.382_383del
n.801_802del
n.2775_2776del
c.1138_1139del (p.Leu380SerfsTer2)
c.9283_9284del (p.Leu3095SerfsTer2)
c.5251_5252del (p.Leu1751SerfsTer2)
c.59_60del
c.22_23del (p.Leu8SerfsTer2)
n.2944_2945del
n.213_214del
c.79_80del (p.Leu27SerfsTer5)
c.1096_1097del (p.Leu366SerfsTer2)
c.2371_2372del (p.Leu791SerfsTer2)
c.9271_9272del (p.Leu3091SerfsTer2)
n.302_303del
c.9268_9269del (p.Leu3090SerfsTer2)
c.9280_9281del (p.Leu3094SerfsTer2)
c.9259_9260del (p.Leu3087SerfsTer2)
c.8914_8915del (p.Leu2972SerfsTer2)
c.5260_5261del (p.Leu1754SerfsTer2)
c.9154_9155del (p.Leu3052SerfsTer2)
c.9145_9146del (p.Leu3049SerfsTer2)
c.9160_9161del (p.Leu3054SerfsTer2)
c.3457_3458del (p.Leu1153SerfsTer2)
 ClinVar dbSNP
Xg.31260958A=CA2422368486DMDc.4129T= (p.Leu1377=)
c.79T= (p.Leu27=)
c.1903T= (p.Leu635=)
n.800T=
n.382T=
n.801T=
n.2775T=
c.1138T= (p.Leu380=)
c.9283T= (p.Leu3095=)
c.5251T= (p.Leu1751=)
c.59T=
c.22T= (p.Leu8=)
n.2944T=
n.213T=
c.1096T= (p.Leu366=)
c.2371T= (p.Leu791=)
c.9271T= (p.Leu3091=)
n.302T=
c.9268T= (p.Leu3090=)
c.9280T= (p.Leu3094=)
c.9259T= (p.Leu3087=)
c.8914T= (p.Leu2972=)
c.5260T= (p.Leu1754=)
c.9154T= (p.Leu3052=)
c.9145T= (p.Leu3049=)
c.9160T= (p.Leu3054=)
c.3457T= (p.Leu1153=)
Xg.31260958A>CCA412652432DMDc.4129T>G (p.Leu1377Val)
c.79T>G (p.Leu27Val)
c.1903T>G (p.Leu635Val)
n.800T>G
n.382T>G
n.801T>G
n.2775T>G
c.1138T>G (p.Leu380Val)
c.9283T>G (p.Leu3095Val)
c.5251T>G (p.Leu1751Val)
c.59T>G
c.22T>G (p.Leu8Val)
n.2944T>G
n.213T>G
c.1096T>G (p.Leu366Val)
c.2371T>G (p.Leu791Val)
c.9271T>G (p.Leu3091Val)
n.302T>G
c.9268T>G (p.Leu3090Val)
c.9280T>G (p.Leu3094Val)
c.9259T>G (p.Leu3087Val)
c.8914T>G (p.Leu2972Val)
c.5260T>G (p.Leu1754Val)
c.9154T>G (p.Leu3052Val)
c.9145T>G (p.Leu3049Val)
c.9160T>G (p.Leu3054Val)
c.3457T>G (p.Leu1153Val)
Xg.31260958A>GCA515858521DMDc.4129T>C (p.Leu1377=)
c.79T>C (p.Leu27=)
c.1903T>C (p.Leu635=)
n.800T>C
n.382T>C
n.801T>C
n.2775T>C
c.1138T>C (p.Leu380=)
c.9283T>C (p.Leu3095=)
c.5251T>C (p.Leu1751=)
c.59T>C
c.22T>C (p.Leu8=)
n.2944T>C
n.213T>C
c.1096T>C (p.Leu366=)
c.2371T>C (p.Leu791=)
c.9271T>C (p.Leu3091=)
n.302T>C
c.9268T>C (p.Leu3090=)
c.9280T>C (p.Leu3094=)
c.9259T>C (p.Leu3087=)
c.8914T>C (p.Leu2972=)
c.5260T>C (p.Leu1754=)
c.9154T>C (p.Leu3052=)
c.9145T>C (p.Leu3049=)
c.9160T>C (p.Leu3054=)
c.3457T>C (p.Leu1153=)
Xg.31260958A>TCA10377848DMDc.4129T>A (p.Leu1377Ile)
c.79T>A (p.Leu27Ile)
c.1903T>A (p.Leu635Ile)
n.800T>A
n.382T>A
n.801T>A
n.2775T>A
c.1138T>A (p.Leu380Ile)
c.9283T>A (p.Leu3095Ile)
c.5251T>A (p.Leu1751Ile)
c.59T>A
c.22T>A (p.Leu8Ile)
n.2944T>A
n.213T>A
c.1096T>A (p.Leu366Ile)
c.2371T>A (p.Leu791Ile)
c.9271T>A (p.Leu3091Ile)
n.302T>A
c.9268T>A (p.Leu3090Ile)
c.9280T>A (p.Leu3094Ile)
c.9259T>A (p.Leu3087Ile)
c.8914T>A (p.Leu2972Ile)
c.5260T>A (p.Leu1754Ile)
c.9154T>A (p.Leu3052Ile)
c.9145T>A (p.Leu3049Ile)
c.9160T>A (p.Leu3054Ile)
c.3457T>A (p.Leu1153Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31260959A=CA2422368487DMDc.4128T= (p.Ser1376=)
c.78T= (p.Ser26=)
c.1902T= (p.Ser634=)
n.799T=
n.381T=
n.800T=
n.2774T=
c.1137T= (p.Ser379=)
c.9282T= (p.Ser3094=)
c.5250T= (p.Ser1750=)
c.58T=
c.21T= (p.Ser7=)
n.2943T=
n.212T=
c.1095T= (p.Ser365=)
c.2370T= (p.Ser790=)
c.9270T= (p.Ser3090=)
n.301T=
c.9267T= (p.Ser3089=)
c.9279T= (p.Ser3093=)
c.9258T= (p.Ser3086=)
c.8913T= (p.Ser2971=)
c.5259T= (p.Ser1753=)
c.9153T= (p.Ser3051=)
c.9144T= (p.Ser3048=)
c.9159T= (p.Ser3053=)
c.3456T= (p.Ser1152=)
Xg.31260959A>CCA515858524DMDc.4128T>G (p.Ser1376=)
c.78T>G (p.Ser26=)
c.1902T>G (p.Ser634=)
n.799T>G
n.381T>G
n.800T>G
n.2774T>G
c.1137T>G (p.Ser379=)
c.9282T>G (p.Ser3094=)
c.5250T>G (p.Ser1750=)
c.58T>G
c.21T>G (p.Ser7=)
n.2943T>G
n.212T>G
c.1095T>G (p.Ser365=)
c.2370T>G (p.Ser790=)
c.9270T>G (p.Ser3090=)
n.301T>G
c.9267T>G (p.Ser3089=)
c.9279T>G (p.Ser3093=)
c.9258T>G (p.Ser3086=)
c.8913T>G (p.Ser2971=)
c.5259T>G (p.Ser1753=)
c.9153T>G (p.Ser3051=)
c.9144T>G (p.Ser3048=)
c.9159T>G (p.Ser3053=)
c.3456T>G (p.Ser1152=)
Xg.31260959A>GCA515858522DMDc.4128T>C (p.Ser1376=)
c.78T>C (p.Ser26=)
c.1902T>C (p.Ser634=)
n.799T>C
n.381T>C
n.800T>C
n.2774T>C
c.1137T>C (p.Ser379=)
c.9282T>C (p.Ser3094=)
c.5250T>C (p.Ser1750=)
c.58T>C
c.21T>C (p.Ser7=)
n.2943T>C
n.212T>C
c.1095T>C (p.Ser365=)
c.2370T>C (p.Ser790=)
c.9270T>C (p.Ser3090=)
n.301T>C
c.9267T>C (p.Ser3089=)
c.9279T>C (p.Ser3093=)
c.9258T>C (p.Ser3086=)
c.8913T>C (p.Ser2971=)
c.5259T>C (p.Ser1753=)
c.9153T>C (p.Ser3051=)
c.9144T>C (p.Ser3048=)
c.9159T>C (p.Ser3053=)
c.3456T>C (p.Ser1152=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31260959A>TCA515858523DMDc.4128T>A (p.Ser1376=)
c.78T>A (p.Ser26=)
c.1902T>A (p.Ser634=)
n.799T>A
n.381T>A
n.800T>A
n.2774T>A
c.1137T>A (p.Ser379=)
c.9282T>A (p.Ser3094=)
c.5250T>A (p.Ser1750=)
c.58T>A
c.21T>A (p.Ser7=)
n.2943T>A
n.212T>A
c.1095T>A (p.Ser365=)
c.2370T>A (p.Ser790=)
c.9270T>A (p.Ser3090=)
n.301T>A
c.9267T>A (p.Ser3089=)
c.9279T>A (p.Ser3093=)
c.9258T>A (p.Ser3086=)
c.8913T>A (p.Ser2971=)
c.5259T>A (p.Ser1753=)
c.9153T>A (p.Ser3051=)
c.9144T>A (p.Ser3048=)
c.9159T>A (p.Ser3053=)
c.3456T>A (p.Ser1152=)
Xg.31260960G>ACA412652433DMDc.4127C>T (p.Ser1376Phe)
c.77C>T (p.Ser26Phe)
c.1901C>T (p.Ser634Phe)
n.798C>T
n.380C>T
n.799C>T
n.2773C>T
c.1136C>T (p.Ser379Phe)
c.9281C>T (p.Ser3094Phe)
c.5249C>T (p.Ser1750Phe)
c.57C>T
c.20C>T (p.Ser7Phe)
n.2942C>T
n.211C>T
c.1094C>T (p.Ser365Phe)
c.2369C>T (p.Ser790Phe)
c.9269C>T (p.Ser3090Phe)
n.300C>T
c.9266C>T (p.Ser3089Phe)
c.9278C>T (p.Ser3093Phe)
c.9257C>T (p.Ser3086Phe)
c.8912C>T (p.Ser2971Phe)
c.5258C>T (p.Ser1753Phe)
c.9152C>T (p.Ser3051Phe)
c.9143C>T (p.Ser3048Phe)
c.9158C>T (p.Ser3053Phe)
c.3455C>T (p.Ser1152Phe)
Xg.31260960G>CCA10377849DMDc.4127C>G (p.Ser1376Cys)
c.77C>G (p.Ser26Cys)
c.1901C>G (p.Ser634Cys)
n.798C>G
n.380C>G
n.799C>G
n.2773C>G
c.1136C>G (p.Ser379Cys)
c.9281C>G (p.Ser3094Cys)
c.5249C>G (p.Ser1750Cys)
c.57C>G
c.20C>G (p.Ser7Cys)
n.2942C>G
n.211C>G
c.1094C>G (p.Ser365Cys)
c.2369C>G (p.Ser790Cys)
c.9269C>G (p.Ser3090Cys)
n.300C>G
c.9266C>G (p.Ser3089Cys)
c.9278C>G (p.Ser3093Cys)
c.9257C>G (p.Ser3086Cys)
c.8912C>G (p.Ser2971Cys)
c.5258C>G (p.Ser1753Cys)
c.9152C>G (p.Ser3051Cys)
c.9143C>G (p.Ser3048Cys)
c.9158C>G (p.Ser3053Cys)
c.3455C>G (p.Ser1152Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31260960G=CA2422368488DMDc.4127C= (p.Ser1376=)
c.77C= (p.Ser26=)
c.1901C= (p.Ser634=)
n.798C=
n.380C=
n.799C=
n.2773C=
c.1136C= (p.Ser379=)
c.9281C= (p.Ser3094=)
c.5249C= (p.Ser1750=)
c.57C=
c.20C= (p.Ser7=)
n.2942C=
n.211C=
c.1094C= (p.Ser365=)
c.2369C= (p.Ser790=)
c.9269C= (p.Ser3090=)
n.300C=
c.9266C= (p.Ser3089=)
c.9278C= (p.Ser3093=)
c.9257C= (p.Ser3086=)
c.8912C= (p.Ser2971=)
c.5258C= (p.Ser1753=)
c.9152C= (p.Ser3051=)
c.9143C= (p.Ser3048=)
c.9158C= (p.Ser3053=)
c.3455C= (p.Ser1152=)
Xg.31260960G>TCA412652434DMDc.4127C>A (p.Ser1376Tyr)
c.77C>A (p.Ser26Tyr)
c.1901C>A (p.Ser634Tyr)
n.798C>A
n.380C>A
n.799C>A
n.2773C>A
c.1136C>A (p.Ser379Tyr)
c.9281C>A (p.Ser3094Tyr)
c.5249C>A (p.Ser1750Tyr)
c.57C>A
c.20C>A (p.Ser7Tyr)
n.2942C>A
n.211C>A
c.1094C>A (p.Ser365Tyr)
c.2369C>A (p.Ser790Tyr)
c.9269C>A (p.Ser3090Tyr)
n.300C>A
c.9266C>A (p.Ser3089Tyr)
c.9278C>A (p.Ser3093Tyr)
c.9257C>A (p.Ser3086Tyr)
c.8912C>A (p.Ser2971Tyr)
c.5258C>A (p.Ser1753Tyr)
c.9152C>A (p.Ser3051Tyr)
c.9143C>A (p.Ser3048Tyr)
c.9158C>A (p.Ser3053Tyr)
c.3455C>A (p.Ser1152Tyr)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31260961A>CCA412652435DMDc.4126T>G (p.Ser1376Ala)
c.76T>G (p.Ser26Ala)
c.1900T>G (p.Ser634Ala)
n.797T>G
n.379T>G
n.798T>G
n.2772T>G
c.1135T>G (p.Ser379Ala)
c.9280T>G (p.Ser3094Ala)
c.5248T>G (p.Ser1750Ala)
c.56T>G
c.19T>G (p.Ser7Ala)
n.2941T>G
n.210T>G
c.1093T>G (p.Ser365Ala)
c.2368T>G (p.Ser790Ala)
c.9268T>G (p.Ser3090Ala)
n.299T>G
c.9265T>G (p.Ser3089Ala)
c.9277T>G (p.Ser3093Ala)
c.9256T>G (p.Ser3086Ala)
c.8911T>G (p.Ser2971Ala)
c.5257T>G (p.Ser1753Ala)
c.9151T>G (p.Ser3051Ala)
c.9142T>G (p.Ser3048Ala)
c.9157T>G (p.Ser3053Ala)
c.3454T>G (p.Ser1152Ala)
Xg.31260961A>GCA412652436DMDc.4126T>C (p.Ser1376Pro)
c.76T>C (p.Ser26Pro)
c.1900T>C (p.Ser634Pro)
n.797T>C
n.379T>C
n.798T>C
n.2772T>C
c.1135T>C (p.Ser379Pro)
c.9280T>C (p.Ser3094Pro)
c.5248T>C (p.Ser1750Pro)
c.56T>C
c.19T>C (p.Ser7Pro)
n.2941T>C
n.210T>C
c.1093T>C (p.Ser365Pro)
c.2368T>C (p.Ser790Pro)
c.9268T>C (p.Ser3090Pro)
n.299T>C
c.9265T>C (p.Ser3089Pro)
c.9277T>C (p.Ser3093Pro)
c.9256T>C (p.Ser3086Pro)
c.8911T>C (p.Ser2971Pro)
c.5257T>C (p.Ser1753Pro)
c.9151T>C (p.Ser3051Pro)
c.9142T>C (p.Ser3048Pro)
c.9157T>C (p.Ser3053Pro)
c.3454T>C (p.Ser1152Pro)
Xg.31260961A>TCA412652437DMDc.4126T>A (p.Ser1376Thr)
c.76T>A (p.Ser26Thr)
c.1900T>A (p.Ser634Thr)
n.797T>A
n.379T>A
n.798T>A
n.2772T>A
c.1135T>A (p.Ser379Thr)
c.9280T>A (p.Ser3094Thr)
c.5248T>A (p.Ser1750Thr)
c.56T>A
c.19T>A (p.Ser7Thr)
n.2941T>A
n.210T>A
c.1093T>A (p.Ser365Thr)
c.2368T>A (p.Ser790Thr)
c.9268T>A (p.Ser3090Thr)
n.299T>A
c.9265T>A (p.Ser3089Thr)
c.9277T>A (p.Ser3093Thr)
c.9256T>A (p.Ser3086Thr)
c.8911T>A (p.Ser2971Thr)
c.5257T>A (p.Ser1753Thr)
c.9151T>A (p.Ser3051Thr)
c.9142T>A (p.Ser3048Thr)
c.9157T>A (p.Ser3053Thr)
c.3454T>A (p.Ser1152Thr)
Xg.31260962C>ACA412652438DMDc.4125G>T (p.Gln1375His)
c.75G>T (p.Gln25His)
c.1899G>T (p.Gln633His)
n.796G>T
n.378G>T
n.797G>T
n.2771G>T
c.1134G>T (p.Gln378His)
c.9279G>T (p.Gln3093His)
c.5247G>T (p.Gln1749His)
c.55G>T
c.18G>T (p.Gln6His)
n.2940G>T
n.209G>T
c.1092G>T (p.Gln364His)
c.2367G>T (p.Gln789His)
c.9267G>T (p.Gln3089His)
n.298G>T
c.9264G>T (p.Gln3088His)
c.9276G>T (p.Gln3092His)
c.9255G>T (p.Gln3085His)
c.8910G>T (p.Gln2970His)
c.5256G>T (p.Gln1752His)
c.9150G>T (p.Gln3050His)
c.9141G>T (p.Gln3047His)
c.9156G>T (p.Gln3052His)
c.3453G>T (p.Gln1151His)
Xg.31260962C>GCA412652439DMDc.4125G>C (p.Gln1375His)
c.75G>C (p.Gln25His)
c.1899G>C (p.Gln633His)
n.796G>C
n.378G>C
n.797G>C
n.2771G>C
c.1134G>C (p.Gln378His)
c.9279G>C (p.Gln3093His)
c.5247G>C (p.Gln1749His)
c.55G>C
c.18G>C (p.Gln6His)
n.2940G>C
n.209G>C
c.1092G>C (p.Gln364His)
c.2367G>C (p.Gln789His)
c.9267G>C (p.Gln3089His)
n.298G>C
c.9264G>C (p.Gln3088His)
c.9276G>C (p.Gln3092His)
c.9255G>C (p.Gln3085His)
c.8910G>C (p.Gln2970His)
c.5256G>C (p.Gln1752His)
c.9150G>C (p.Gln3050His)
c.9141G>C (p.Gln3047His)
c.9156G>C (p.Gln3052His)
c.3453G>C (p.Gln1151His)
Xg.31260962C>TCA515858525DMDc.4125G>A (p.Gln1375=)
c.75G>A (p.Gln25=)
c.1899G>A (p.Gln633=)
n.796G>A
n.378G>A
n.797G>A
n.2771G>A
c.1134G>A (p.Gln378=)
c.9279G>A (p.Gln3093=)
c.5247G>A (p.Gln1749=)
c.55G>A
c.18G>A (p.Gln6=)
n.2940G>A
n.209G>A
c.1092G>A (p.Gln364=)
c.2367G>A (p.Gln789=)
c.9267G>A (p.Gln3089=)
n.298G>A
c.9264G>A (p.Gln3088=)
c.9276G>A (p.Gln3092=)
c.9255G>A (p.Gln3085=)
c.8910G>A (p.Gln2970=)
c.5256G>A (p.Gln1752=)
c.9150G>A (p.Gln3050=)
c.9141G>A (p.Gln3047=)
c.9156G>A (p.Gln3052=)
c.3453G>A (p.Gln1151=)
 ClinVar dbSNP
Xg.31260963T>ACA412652440DMDc.4124A>T (p.Gln1375Leu)
c.74A>T (p.Gln25Leu)
c.1898A>T (p.Gln633Leu)
n.795A>T
n.377A>T
n.796A>T
n.2770A>T
c.1133A>T (p.Gln378Leu)
c.9278A>T (p.Gln3093Leu)
c.5246A>T (p.Gln1749Leu)
c.54A>T
c.17A>T (p.Gln6Leu)
n.2939A>T
n.208A>T
c.1091A>T (p.Gln364Leu)
c.2366A>T (p.Gln789Leu)
c.9266A>T (p.Gln3089Leu)
n.297A>T
c.9263A>T (p.Gln3088Leu)
c.9275A>T (p.Gln3092Leu)
c.9254A>T (p.Gln3085Leu)
c.8909A>T (p.Gln2970Leu)
c.5255A>T (p.Gln1752Leu)
c.9149A>T (p.Gln3050Leu)
c.9140A>T (p.Gln3047Leu)
c.9155A>T (p.Gln3052Leu)
c.3452A>T (p.Gln1151Leu)
Xg.31260963T>CCA412652441DMDc.4124A>G (p.Gln1375Arg)
c.74A>G (p.Gln25Arg)
c.1898A>G (p.Gln633Arg)
n.795A>G
n.377A>G
n.796A>G
n.2770A>G
c.1133A>G (p.Gln378Arg)
c.9278A>G (p.Gln3093Arg)
c.5246A>G (p.Gln1749Arg)
c.54A>G
c.17A>G (p.Gln6Arg)
n.2939A>G
n.208A>G
c.1091A>G (p.Gln364Arg)
c.2366A>G (p.Gln789Arg)
c.9266A>G (p.Gln3089Arg)
n.297A>G
c.9263A>G (p.Gln3088Arg)
c.9275A>G (p.Gln3092Arg)
c.9254A>G (p.Gln3085Arg)
c.8909A>G (p.Gln2970Arg)
c.5255A>G (p.Gln1752Arg)
c.9149A>G (p.Gln3050Arg)
c.9140A>G (p.Gln3047Arg)
c.9155A>G (p.Gln3052Arg)
c.3452A>G (p.Gln1151Arg)
Xg.31260963T>GCA412652442DMDc.4124A>C (p.Gln1375Pro)
c.74A>C (p.Gln25Pro)
c.1898A>C (p.Gln633Pro)
n.795A>C
n.377A>C
n.796A>C
n.2770A>C
c.1133A>C (p.Gln378Pro)
c.9278A>C (p.Gln3093Pro)
c.5246A>C (p.Gln1749Pro)
c.54A>C
c.17A>C (p.Gln6Pro)
n.2939A>C
n.208A>C
c.1091A>C (p.Gln364Pro)
c.2366A>C (p.Gln789Pro)
c.9266A>C (p.Gln3089Pro)
n.297A>C
c.9263A>C (p.Gln3088Pro)
c.9275A>C (p.Gln3092Pro)
c.9254A>C (p.Gln3085Pro)
c.8909A>C (p.Gln2970Pro)
c.5255A>C (p.Gln1752Pro)
c.9149A>C (p.Gln3050Pro)
c.9140A>C (p.Gln3047Pro)
c.9155A>C (p.Gln3052Pro)
c.3452A>C (p.Gln1151Pro)
Xg.31260966_31260984dupCA2695232324DMDc.4106_4124dup (p.Ser1376AsnfsTer10)
c.56_74dup (p.Ser26AsnfsTer10)
c.1880_1898dup (p.Ser634AsnfsTer10)
n.777_795dup
n.359_377dup
n.778_796dup
n.2752_2770dup
c.1115_1133dup (p.Ser379AsnfsTer10)
c.9260_9278dup (p.Ser3094AsnfsTer10)
c.5228_5246dup (p.Ser1750AsnfsTer10)
c.36_54dup
c.-2_17dup (p.Ser7AsnfsTer10)
n.2921_2939dup
n.190_208dup
c.56_74dup (p.Ser26AsnfsTer13)
c.1073_1091dup (p.Ser365AsnfsTer10)
c.2348_2366dup (p.Ser790AsnfsTer10)
c.9248_9266dup (p.Ser3090AsnfsTer10)
n.279_297dup
c.9245_9263dup (p.Ser3089AsnfsTer10)
c.9257_9275dup (p.Ser3093AsnfsTer10)
c.9236_9254dup (p.Ser3086AsnfsTer10)
c.8891_8909dup (p.Ser2971AsnfsTer10)
c.5237_5255dup (p.Ser1753AsnfsTer10)
c.9131_9149dup (p.Ser3051AsnfsTer10)
c.9122_9140dup (p.Ser3048AsnfsTer10)
c.9137_9155dup (p.Ser3053AsnfsTer10)
c.3434_3452dup (p.Ser1152AsnfsTer10)
Xg.31260964G>ACA412652443DMDc.4123C>T (p.Gln1375Ter)
c.73C>T (p.Gln25Ter)
c.1897C>T (p.Gln633Ter)
n.794C>T
n.376C>T
n.795C>T
n.2769C>T
c.1132C>T (p.Gln378Ter)
c.9277C>T (p.Gln3093Ter)
c.5245C>T (p.Gln1749Ter)
c.53C>T
c.16C>T (p.Gln6Ter)
n.2938C>T
n.207C>T
c.1090C>T (p.Gln364Ter)
c.2365C>T (p.Gln789Ter)
c.9265C>T (p.Gln3089Ter)
n.296C>T
c.9262C>T (p.Gln3088Ter)
c.9274C>T (p.Gln3092Ter)
c.9253C>T (p.Gln3085Ter)
c.8908C>T (p.Gln2970Ter)
c.5254C>T (p.Gln1752Ter)
c.9148C>T (p.Gln3050Ter)
c.9139C>T (p.Gln3047Ter)
c.9154C>T (p.Gln3052Ter)
c.3451C>T (p.Gln1151Ter)
Xg.31260964G>CCA412652444DMDc.4123C>G (p.Gln1375Glu)
c.73C>G (p.Gln25Glu)
c.1897C>G (p.Gln633Glu)
n.794C>G
n.376C>G
n.795C>G
n.2769C>G
c.1132C>G (p.Gln378Glu)
c.9277C>G (p.Gln3093Glu)
c.5245C>G (p.Gln1749Glu)
c.53C>G
c.16C>G (p.Gln6Glu)
n.2938C>G
n.207C>G
c.1090C>G (p.Gln364Glu)
c.2365C>G (p.Gln789Glu)
c.9265C>G (p.Gln3089Glu)
n.296C>G
c.9262C>G (p.Gln3088Glu)
c.9274C>G (p.Gln3092Glu)
c.9253C>G (p.Gln3085Glu)
c.8908C>G (p.Gln2970Glu)
c.5254C>G (p.Gln1752Glu)
c.9148C>G (p.Gln3050Glu)
c.9139C>G (p.Gln3047Glu)
c.9154C>G (p.Gln3052Glu)
c.3451C>G (p.Gln1151Glu)
Xg.31260964G>TCA412652445DMDc.4123C>A (p.Gln1375Lys)
c.73C>A (p.Gln25Lys)
c.1897C>A (p.Gln633Lys)
n.794C>A
n.376C>A
n.795C>A
n.2769C>A
c.1132C>A (p.Gln378Lys)
c.9277C>A (p.Gln3093Lys)
c.5245C>A (p.Gln1749Lys)
c.53C>A
c.16C>A (p.Gln6Lys)
n.2938C>A
n.207C>A
c.1090C>A (p.Gln364Lys)
c.2365C>A (p.Gln789Lys)
c.9265C>A (p.Gln3089Lys)
n.296C>A
c.9262C>A (p.Gln3088Lys)
c.9274C>A (p.Gln3092Lys)
c.9253C>A (p.Gln3085Lys)
c.8908C>A (p.Gln2970Lys)
c.5254C>A (p.Gln1752Lys)
c.9148C>A (p.Gln3050Lys)
c.9139C>A (p.Gln3047Lys)
c.9154C>A (p.Gln3052Lys)
c.3451C>A (p.Gln1151Lys)
Xg.31260965delCA2579578723DMDc.4123del (p.Gln1375SerfsTer3)
c.73del (p.Gln25SerfsTer3)
c.1897del (p.Gln633SerfsTer3)
n.794del
n.376del
n.795del
n.2769del
c.1132del (p.Gln378SerfsTer3)
c.9277del (p.Gln3093SerfsTer3)
c.5245del (p.Gln1749SerfsTer3)
c.53del
c.16del (p.Gln6SerfsTer3)
n.2938del
n.207del
c.1090del (p.Gln364SerfsTer3)
c.2365del (p.Gln789SerfsTer3)
c.9265del (p.Gln3089SerfsTer3)
n.296del
c.9262del (p.Gln3088SerfsTer3)
c.9274del (p.Gln3092SerfsTer3)
c.9253del (p.Gln3085SerfsTer3)
c.8908del (p.Gln2970SerfsTer3)
c.5254del (p.Gln1752SerfsTer3)
c.9148del (p.Gln3050SerfsTer3)
c.9139del (p.Gln3047SerfsTer3)
c.9154del (p.Gln3052SerfsTer3)
c.3451del (p.Gln1151SerfsTer3)
Xg.31260965G>ACA515858527DMDc.4122C>T (p.Tyr1374=)
c.72C>T (p.Tyr24=)
c.1896C>T (p.Tyr632=)
n.793C>T
n.375C>T
n.794C>T
n.2768C>T
c.1131C>T (p.Tyr377=)
c.9276C>T (p.Tyr3092=)
c.5244C>T (p.Tyr1748=)
c.52C>T
c.15C>T (p.Tyr5=)
n.2937C>T
n.206C>T
c.1089C>T (p.Tyr363=)
c.2364C>T (p.Tyr788=)
c.9264C>T (p.Tyr3088=)
n.295C>T
c.9261C>T (p.Tyr3087=)
c.9273C>T (p.Tyr3091=)
c.9252C>T (p.Tyr3084=)
c.8907C>T (p.Tyr2969=)
c.5253C>T (p.Tyr1751=)
c.9147C>T (p.Tyr3049=)
c.9138C>T (p.Tyr3046=)
c.9153C>T (p.Tyr3051=)
c.3450C>T (p.Tyr1150=)
Xg.31260965G>CCA412652447DMDc.4122C>G (p.Tyr1374Ter)
c.72C>G (p.Tyr24Ter)
c.1896C>G (p.Tyr632Ter)
n.793C>G
n.375C>G
n.794C>G
n.2768C>G
c.1131C>G (p.Tyr377Ter)
c.9276C>G (p.Tyr3092Ter)
c.5244C>G (p.Tyr1748Ter)
c.52C>G
c.15C>G (p.Tyr5Ter)
n.2937C>G
n.206C>G
c.1089C>G (p.Tyr363Ter)
c.2364C>G (p.Tyr788Ter)
c.9264C>G (p.Tyr3088Ter)
n.295C>G
c.9261C>G (p.Tyr3087Ter)
c.9273C>G (p.Tyr3091Ter)
c.9252C>G (p.Tyr3084Ter)
c.8907C>G (p.Tyr2969Ter)
c.5253C>G (p.Tyr1751Ter)
c.9147C>G (p.Tyr3049Ter)
c.9138C>G (p.Tyr3046Ter)
c.9153C>G (p.Tyr3051Ter)
c.3450C>G (p.Tyr1150Ter)
Xg.31260965G>TCA412652446DMDc.4122C>A (p.Tyr1374Ter)
c.72C>A (p.Tyr24Ter)
c.1896C>A (p.Tyr632Ter)
n.793C>A
n.375C>A
n.794C>A
n.2768C>A
c.1131C>A (p.Tyr377Ter)
c.9276C>A (p.Tyr3092Ter)
c.5244C>A (p.Tyr1748Ter)
c.52C>A
c.15C>A (p.Tyr5Ter)
n.2937C>A
n.206C>A
c.1089C>A (p.Tyr363Ter)
c.2364C>A (p.Tyr788Ter)
c.9264C>A (p.Tyr3088Ter)
n.295C>A
c.9261C>A (p.Tyr3087Ter)
c.9273C>A (p.Tyr3091Ter)
c.9252C>A (p.Tyr3084Ter)
c.8907C>A (p.Tyr2969Ter)
c.5253C>A (p.Tyr1751Ter)
c.9147C>A (p.Tyr3049Ter)
c.9138C>A (p.Tyr3046Ter)
c.9153C>A (p.Tyr3051Ter)
c.3450C>A (p.Tyr1150Ter)
 dbSNP
Xg.31260966T>ACA412652448DMDc.4121A>T (p.Tyr1374Phe)
c.71A>T (p.Tyr24Phe)
c.1895A>T (p.Tyr632Phe)
n.792A>T
n.374A>T
n.793A>T
n.2767A>T
c.1130A>T (p.Tyr377Phe)
c.9275A>T (p.Tyr3092Phe)
c.5243A>T (p.Tyr1748Phe)
c.51A>T
c.14A>T (p.Tyr5Phe)
n.2936A>T
n.205A>T
c.1088A>T (p.Tyr363Phe)
c.2363A>T (p.Tyr788Phe)
c.9263A>T (p.Tyr3088Phe)
n.294A>T
c.9260A>T (p.Tyr3087Phe)
c.9272A>T (p.Tyr3091Phe)
c.9251A>T (p.Tyr3084Phe)
c.8906A>T (p.Tyr2969Phe)
c.5252A>T (p.Tyr1751Phe)
c.9146A>T (p.Tyr3049Phe)
c.9137A>T (p.Tyr3046Phe)
c.9152A>T (p.Tyr3051Phe)
c.3449A>T (p.Tyr1150Phe)
Xg.31260966T>CCA412652450DMDc.4121A>G (p.Tyr1374Cys)
c.71A>G (p.Tyr24Cys)
c.1895A>G (p.Tyr632Cys)
n.792A>G
n.374A>G
n.793A>G
n.2767A>G
c.1130A>G (p.Tyr377Cys)
c.9275A>G (p.Tyr3092Cys)
c.5243A>G (p.Tyr1748Cys)
c.51A>G
c.14A>G (p.Tyr5Cys)
n.2936A>G
n.205A>G
c.1088A>G (p.Tyr363Cys)
c.2363A>G (p.Tyr788Cys)
c.9263A>G (p.Tyr3088Cys)
n.294A>G
c.9260A>G (p.Tyr3087Cys)
c.9272A>G (p.Tyr3091Cys)
c.9251A>G (p.Tyr3084Cys)
c.8906A>G (p.Tyr2969Cys)
c.5252A>G (p.Tyr1751Cys)
c.9146A>G (p.Tyr3049Cys)
c.9137A>G (p.Tyr3046Cys)
c.9152A>G (p.Tyr3051Cys)
c.3449A>G (p.Tyr1150Cys)
Xg.31260966T>GCA412652449DMDc.4121A>C (p.Tyr1374Ser)
c.71A>C (p.Tyr24Ser)
c.1895A>C (p.Tyr632Ser)
n.792A>C
n.374A>C
n.793A>C
n.2767A>C
c.1130A>C (p.Tyr377Ser)
c.9275A>C (p.Tyr3092Ser)
c.5243A>C (p.Tyr1748Ser)
c.51A>C
c.14A>C (p.Tyr5Ser)
n.2936A>C
n.205A>C
c.1088A>C (p.Tyr363Ser)
c.2363A>C (p.Tyr788Ser)
c.9263A>C (p.Tyr3088Ser)
n.294A>C
c.9260A>C (p.Tyr3087Ser)
c.9272A>C (p.Tyr3091Ser)
c.9251A>C (p.Tyr3084Ser)
c.8906A>C (p.Tyr2969Ser)
c.5252A>C (p.Tyr1751Ser)
c.9146A>C (p.Tyr3049Ser)
c.9137A>C (p.Tyr3046Ser)
c.9152A>C (p.Tyr3051Ser)
c.3449A>C (p.Tyr1150Ser)
Xg.31260967A>CCA412652451DMDc.4120T>G (p.Tyr1374Asp)
c.70T>G (p.Tyr24Asp)
c.1894T>G (p.Tyr632Asp)
n.791T>G
n.373T>G
n.792T>G
n.2766T>G
c.1129T>G (p.Tyr377Asp)
c.9274T>G (p.Tyr3092Asp)
c.5242T>G (p.Tyr1748Asp)
c.50T>G
c.13T>G (p.Tyr5Asp)
n.2935T>G
n.204T>G
c.1087T>G (p.Tyr363Asp)
c.2362T>G (p.Tyr788Asp)
c.9262T>G (p.Tyr3088Asp)
n.293T>G
c.9259T>G (p.Tyr3087Asp)
c.9271T>G (p.Tyr3091Asp)
c.9250T>G (p.Tyr3084Asp)
c.8905T>G (p.Tyr2969Asp)
c.5251T>G (p.Tyr1751Asp)
c.9145T>G (p.Tyr3049Asp)
c.9136T>G (p.Tyr3046Asp)
c.9151T>G (p.Tyr3051Asp)
c.3448T>G (p.Tyr1150Asp)
 gnomAD v4
Xg.31260967A>GCA412652453DMDc.4120T>C (p.Tyr1374His)
c.70T>C (p.Tyr24His)
c.1894T>C (p.Tyr632His)
n.791T>C
n.373T>C
n.792T>C
n.2766T>C
c.1129T>C (p.Tyr377His)
c.9274T>C (p.Tyr3092His)
c.5242T>C (p.Tyr1748His)
c.50T>C
c.13T>C (p.Tyr5His)
n.2935T>C
n.204T>C
c.1087T>C (p.Tyr363His)
c.2362T>C (p.Tyr788His)
c.9262T>C (p.Tyr3088His)
n.293T>C
c.9259T>C (p.Tyr3087His)
c.9271T>C (p.Tyr3091His)
c.9250T>C (p.Tyr3084His)
c.8905T>C (p.Tyr2969His)
c.5251T>C (p.Tyr1751His)
c.9145T>C (p.Tyr3049His)
c.9136T>C (p.Tyr3046His)
c.9151T>C (p.Tyr3051His)
c.3448T>C (p.Tyr1150His)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31260967A>TCA412652452DMDc.4120T>A (p.Tyr1374Asn)
c.70T>A (p.Tyr24Asn)
c.1894T>A (p.Tyr632Asn)
n.791T>A
n.373T>A
n.792T>A
n.2766T>A
c.1129T>A (p.Tyr377Asn)
c.9274T>A (p.Tyr3092Asn)
c.5242T>A (p.Tyr1748Asn)
c.50T>A
c.13T>A (p.Tyr5Asn)
n.2935T>A
n.204T>A
c.1087T>A (p.Tyr363Asn)
c.2362T>A (p.Tyr788Asn)
c.9262T>A (p.Tyr3088Asn)
n.293T>A
c.9259T>A (p.Tyr3087Asn)
c.9271T>A (p.Tyr3091Asn)
c.9250T>A (p.Tyr3084Asn)
c.8905T>A (p.Tyr2969Asn)
c.5251T>A (p.Tyr1751Asn)
c.9145T>A (p.Tyr3049Asn)
c.9136T>A (p.Tyr3046Asn)
c.9151T>A (p.Tyr3051Asn)
c.3448T>A (p.Tyr1150Asn)
Xg.31260969_31260970delCA2521239983DMDc.4119_4120del (p.Tyr1374ProfsTer5)
c.69_70del (p.Tyr24ProfsTer5)
c.1893_1894del (p.Tyr632ProfsTer5)
n.790_791del
n.372_373del
n.791_792del
n.2765_2766del
c.1128_1129del (p.Tyr377ProfsTer5)
c.9273_9274del (p.Tyr3092ProfsTer5)
c.5241_5242del (p.Tyr1748ProfsTer5)
c.49_50del
c.12_13del (p.Tyr5ProfsTer5)
n.2934_2935del
n.203_204del
c.69_70del (p.Tyr24ProfsTer8)
c.1086_1087del (p.Tyr363ProfsTer5)
c.2361_2362del (p.Tyr788ProfsTer5)
c.9261_9262del (p.Tyr3088ProfsTer5)
n.292_293del
c.9258_9259del (p.Tyr3087ProfsTer5)
c.9270_9271del (p.Tyr3091ProfsTer5)
c.9249_9250del (p.Tyr3084ProfsTer5)
c.8904_8905del (p.Tyr2969ProfsTer5)
c.5250_5251del (p.Tyr1751ProfsTer5)
c.9144_9145del (p.Tyr3049ProfsTer5)
c.9135_9136del (p.Tyr3046ProfsTer5)
c.9150_9151del (p.Tyr3051ProfsTer5)
c.3447_3448del (p.Tyr1150ProfsTer5)
Xg.31260968G>ACA515858528DMDc.4119C>T (p.Leu1373=)
c.69C>T (p.Leu23=)
c.1893C>T (p.Leu631=)
n.790C>T
n.372C>T
n.791C>T
n.2765C>T
c.1128C>T (p.Leu376=)
c.9273C>T (p.Leu3091=)
c.5241C>T (p.Leu1747=)
c.49C>T
c.12C>T (p.Leu4=)
n.2934C>T
n.203C>T
c.1086C>T (p.Leu362=)
c.2361C>T (p.Leu787=)
c.9261C>T (p.Leu3087=)
n.292C>T
c.9258C>T (p.Leu3086=)
c.9270C>T (p.Leu3090=)
c.9249C>T (p.Leu3083=)
c.8904C>T (p.Leu2968=)
c.5250C>T (p.Leu1750=)
c.9144C>T (p.Leu3048=)
c.9135C>T (p.Leu3045=)
c.9150C>T (p.Leu3050=)
c.3447C>T (p.Leu1149=)
Xg.31260968G>CCA515858529DMDc.4119C>G (p.Leu1373=)
c.69C>G (p.Leu23=)
c.1893C>G (p.Leu631=)
n.790C>G
n.372C>G
n.791C>G
n.2765C>G
c.1128C>G (p.Leu376=)
c.9273C>G (p.Leu3091=)
c.5241C>G (p.Leu1747=)
c.49C>G
c.12C>G (p.Leu4=)
n.2934C>G
n.203C>G
c.1086C>G (p.Leu362=)
c.2361C>G (p.Leu787=)
c.9261C>G (p.Leu3087=)
n.292C>G
c.9258C>G (p.Leu3086=)
c.9270C>G (p.Leu3090=)
c.9249C>G (p.Leu3083=)
c.8904C>G (p.Leu2968=)
c.5250C>G (p.Leu1750=)
c.9144C>G (p.Leu3048=)
c.9135C>G (p.Leu3045=)
c.9150C>G (p.Leu3050=)
c.3447C>G (p.Leu1149=)
Xg.31260968G>TCA515858530DMDc.4119C>A (p.Leu1373=)
c.69C>A (p.Leu23=)
c.1893C>A (p.Leu631=)
n.790C>A
n.372C>A
n.791C>A
n.2765C>A
c.1128C>A (p.Leu376=)
c.9273C>A (p.Leu3091=)
c.5241C>A (p.Leu1747=)
c.49C>A
c.12C>A (p.Leu4=)
n.2934C>A
n.203C>A
c.1086C>A (p.Leu362=)
c.2361C>A (p.Leu787=)
c.9261C>A (p.Leu3087=)
n.292C>A
c.9258C>A (p.Leu3086=)
c.9270C>A (p.Leu3090=)
c.9249C>A (p.Leu3083=)
c.8904C>A (p.Leu2968=)
c.5250C>A (p.Leu1750=)
c.9144C>A (p.Leu3048=)
c.9135C>A (p.Leu3045=)
c.9150C>A (p.Leu3050=)
c.3447C>A (p.Leu1149=)
Xg.31260968_31260972delinsACTGTCATTTTGGTAAAAGACA2695232326DMDc.4115_4119delinsTCTTTTACCAAAATGACAGT (p.Glu1372_Leu1373delinsValPheTyrGlnAsnAspSer)
c.65_69delinsTCTTTTACCAAAATGACAGT (p.Glu22_Leu23delinsValPheTyrGlnAsnAspSer)
c.1889_1893delinsTCTTTTACCAAAATGACAGT (p.Glu630_Leu631delinsValPheTyrGlnAsnAspSer)
n.786_790delinsTCTTTTACCAAAATGACAGT
n.368_372delinsTCTTTTACCAAAATGACAGT
n.787_791delinsTCTTTTACCAAAATGACAGT
n.2761_2765delinsTCTTTTACCAAAATGACAGT
c.1124_1128delinsTCTTTTACCAAAATGACAGT (p.Glu375_Leu376delinsValPheTyrGlnAsnAspSer)
c.9269_9273delinsTCTTTTACCAAAATGACAGT (p.Glu3090_Leu3091delinsValPheTyrGlnAsnAspSer)
c.5237_5241delinsTCTTTTACCAAAATGACAGT (p.Glu1746_Leu1747delinsValPheTyrGlnAsnAspSer)
c.45_49delinsTCTTTTACCAAAATGACAGT
c.8_12delinsTCTTTTACCAAAATGACAGT (p.Glu3_Leu4delinsValPheTyrGlnAsnAspSer)
n.2930_2934delinsTCTTTTACCAAAATGACAGT
n.199_203delinsTCTTTTACCAAAATGACAGT
c.1082_1086delinsTCTTTTACCAAAATGACAGT (p.Glu361_Leu362delinsValPheTyrGlnAsnAspSer)
c.2357_2361delinsTCTTTTACCAAAATGACAGT (p.Glu786_Leu787delinsValPheTyrGlnAsnAspSer)
c.9257_9261delinsTCTTTTACCAAAATGACAGT (p.Glu3086_Leu3087delinsValPheTyrGlnAsnAspSer)
n.288_292delinsTCTTTTACCAAAATGACAGT
c.9254_9258delinsTCTTTTACCAAAATGACAGT (p.Glu3085_Leu3086delinsValPheTyrGlnAsnAspSer)
c.9266_9270delinsTCTTTTACCAAAATGACAGT (p.Glu3089_Leu3090delinsValPheTyrGlnAsnAspSer)
c.9245_9249delinsTCTTTTACCAAAATGACAGT (p.Glu3082_Leu3083delinsValPheTyrGlnAsnAspSer)
c.8900_8904delinsTCTTTTACCAAAATGACAGT (p.Glu2967_Leu2968delinsValPheTyrGlnAsnAspSer)
c.5246_5250delinsTCTTTTACCAAAATGACAGT (p.Glu1749_Leu1750delinsValPheTyrGlnAsnAspSer)
c.9140_9144delinsTCTTTTACCAAAATGACAGT (p.Glu3047_Leu3048delinsValPheTyrGlnAsnAspSer)
c.9131_9135delinsTCTTTTACCAAAATGACAGT (p.Glu3044_Leu3045delinsValPheTyrGlnAsnAspSer)
c.9146_9150delinsTCTTTTACCAAAATGACAGT (p.Glu3049_Leu3050delinsValPheTyrGlnAsnAspSer)
c.3443_3447delinsTCTTTTACCAAAATGACAGT (p.Glu1148_Leu1149delinsValPheTyrGlnAsnAspSer)
Xg.31260969A>CCA412652454DMDc.4118T>G (p.Leu1373Arg)
c.68T>G (p.Leu23Arg)
c.1892T>G (p.Leu631Arg)
n.789T>G
n.371T>G
n.790T>G
n.2764T>G
c.1127T>G (p.Leu376Arg)
c.9272T>G (p.Leu3091Arg)
c.5240T>G (p.Leu1747Arg)
c.48T>G
c.11T>G (p.Leu4Arg)
n.2933T>G
n.202T>G
c.1085T>G (p.Leu362Arg)
c.2360T>G (p.Leu787Arg)
c.9260T>G (p.Leu3087Arg)
n.291T>G
c.9257T>G (p.Leu3086Arg)
c.9269T>G (p.Leu3090Arg)
c.9248T>G (p.Leu3083Arg)
c.8903T>G (p.Leu2968Arg)
c.5249T>G (p.Leu1750Arg)
c.9143T>G (p.Leu3048Arg)
c.9134T>G (p.Leu3045Arg)
c.9149T>G (p.Leu3050Arg)
c.3446T>G (p.Leu1149Arg)
Xg.31260969A>GCA412652456DMDc.4118T>C (p.Leu1373Pro)
c.68T>C (p.Leu23Pro)
c.1892T>C (p.Leu631Pro)
n.789T>C
n.371T>C
n.790T>C
n.2764T>C
c.1127T>C (p.Leu376Pro)
c.9272T>C (p.Leu3091Pro)
c.5240T>C (p.Leu1747Pro)
c.48T>C
c.11T>C (p.Leu4Pro)
n.2933T>C
n.202T>C
c.1085T>C (p.Leu362Pro)
c.2360T>C (p.Leu787Pro)
c.9260T>C (p.Leu3087Pro)
n.291T>C
c.9257T>C (p.Leu3086Pro)
c.9269T>C (p.Leu3090Pro)
c.9248T>C (p.Leu3083Pro)
c.8903T>C (p.Leu2968Pro)
c.5249T>C (p.Leu1750Pro)
c.9143T>C (p.Leu3048Pro)
c.9134T>C (p.Leu3045Pro)
c.9149T>C (p.Leu3050Pro)
c.3446T>C (p.Leu1149Pro)
Xg.31260969A>TCA412652455DMDc.4118T>A (p.Leu1373His)
c.68T>A (p.Leu23His)
c.1892T>A (p.Leu631His)
n.789T>A
n.371T>A
n.790T>A
n.2764T>A
c.1127T>A (p.Leu376His)
c.9272T>A (p.Leu3091His)
c.5240T>A (p.Leu1747His)
c.48T>A
c.11T>A (p.Leu4His)
n.2933T>A
n.202T>A
c.1085T>A (p.Leu362His)
c.2360T>A (p.Leu787His)
c.9260T>A (p.Leu3087His)
n.291T>A
c.9257T>A (p.Leu3086His)
c.9269T>A (p.Leu3090His)
c.9248T>A (p.Leu3083His)
c.8903T>A (p.Leu2968His)
c.5249T>A (p.Leu1750His)
c.9143T>A (p.Leu3048His)
c.9134T>A (p.Leu3045His)
c.9149T>A (p.Leu3050His)
c.3446T>A (p.Leu1149His)
Xg.31260970G>ACA10377850DMDc.4117C>T (p.Leu1373Phe)
c.67C>T (p.Leu23Phe)
c.1891C>T (p.Leu631Phe)
n.788C>T
n.370C>T
n.789C>T
n.2763C>T
c.1126C>T (p.Leu376Phe)
c.9271C>T (p.Leu3091Phe)
c.5239C>T (p.Leu1747Phe)
c.47C>T
c.10C>T (p.Leu4Phe)
n.2932C>T
n.201C>T
c.1084C>T (p.Leu362Phe)
c.2359C>T (p.Leu787Phe)
c.9259C>T (p.Leu3087Phe)
n.290C>T
c.9256C>T (p.Leu3086Phe)
c.9268C>T (p.Leu3090Phe)
c.9247C>T (p.Leu3083Phe)
c.8902C>T (p.Leu2968Phe)
c.5248C>T (p.Leu1750Phe)
c.9142C>T (p.Leu3048Phe)
c.9133C>T (p.Leu3045Phe)
c.9148C>T (p.Leu3050Phe)
c.3445C>T (p.Leu1149Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31260970G>CCA412652458DMDc.4117C>G (p.Leu1373Val)
c.67C>G (p.Leu23Val)
c.1891C>G (p.Leu631Val)
n.788C>G
n.370C>G
n.789C>G
n.2763C>G
c.1126C>G (p.Leu376Val)
c.9271C>G (p.Leu3091Val)
c.5239C>G (p.Leu1747Val)
c.47C>G
c.10C>G (p.Leu4Val)
n.2932C>G
n.201C>G
c.1084C>G (p.Leu362Val)
c.2359C>G (p.Leu787Val)
c.9259C>G (p.Leu3087Val)
n.290C>G
c.9256C>G (p.Leu3086Val)
c.9268C>G (p.Leu3090Val)
c.9247C>G (p.Leu3083Val)
c.8902C>G (p.Leu2968Val)
c.5248C>G (p.Leu1750Val)
c.9142C>G (p.Leu3048Val)
c.9133C>G (p.Leu3045Val)
c.9148C>G (p.Leu3050Val)
c.3445C>G (p.Leu1149Val)
Xg.31260970G=CA2422368489DMDc.4117C= (p.Leu1373=)
c.67C= (p.Leu23=)
c.1891C= (p.Leu631=)
n.788C=
n.370C=
n.789C=
n.2763C=
c.1126C= (p.Leu376=)
c.9271C= (p.Leu3091=)
c.5239C= (p.Leu1747=)
c.47C=
c.10C= (p.Leu4=)
n.2932C=
n.201C=
c.1084C= (p.Leu362=)
c.2359C= (p.Leu787=)
c.9259C= (p.Leu3087=)
n.290C=
c.9256C= (p.Leu3086=)
c.9268C= (p.Leu3090=)
c.9247C= (p.Leu3083=)
c.8902C= (p.Leu2968=)
c.5248C= (p.Leu1750=)
c.9142C= (p.Leu3048=)
c.9133C= (p.Leu3045=)
c.9148C= (p.Leu3050=)
c.3445C= (p.Leu1149=)
Xg.31260970G>TCA412652457DMDc.4117C>A (p.Leu1373Ile)
c.67C>A (p.Leu23Ile)
c.1891C>A (p.Leu631Ile)
n.788C>A
n.370C>A
n.789C>A
n.2763C>A
c.1126C>A (p.Leu376Ile)
c.9271C>A (p.Leu3091Ile)
c.5239C>A (p.Leu1747Ile)
c.47C>A
c.10C>A (p.Leu4Ile)
n.2932C>A
n.201C>A
c.1084C>A (p.Leu362Ile)
c.2359C>A (p.Leu787Ile)
c.9259C>A (p.Leu3087Ile)
n.290C>A
c.9256C>A (p.Leu3086Ile)
c.9268C>A (p.Leu3090Ile)
c.9247C>A (p.Leu3083Ile)
c.8902C>A (p.Leu2968Ile)
c.5248C>A (p.Leu1750Ile)
c.9142C>A (p.Leu3048Ile)
c.9133C>A (p.Leu3045Ile)
c.9148C>A (p.Leu3050Ile)
c.3445C>A (p.Leu1149Ile)
Xg.31260970_31260972delinsGCTCA2422368490DMDc.4115_4117delinsAGC (p.Glu1372=)
c.65_67delinsAGC (p.Glu22=)
c.1889_1891delinsAGC (p.Glu630=)
n.786_788delinsAGC
n.368_370delinsAGC
n.787_789delinsAGC
n.2761_2763delinsAGC
c.1124_1126delinsAGC (p.Glu375=)
c.9269_9271delinsAGC (p.Glu3090=)
c.5237_5239delinsAGC (p.Glu1746=)
c.45_47delinsAGC
c.8_10delinsAGC (p.Glu3=)
n.2930_2932delinsAGC
n.199_201delinsAGC
c.1082_1084delinsAGC (p.Glu361=)
c.2357_2359delinsAGC (p.Glu786=)
c.9257_9259delinsAGC (p.Glu3086=)
n.288_290delinsAGC
c.9254_9256delinsAGC (p.Glu3085=)
c.9266_9268delinsAGC (p.Glu3089=)
c.9245_9247delinsAGC (p.Glu3082=)
c.8900_8902delinsAGC (p.Glu2967=)
c.5246_5248delinsAGC (p.Glu1749=)
c.9140_9142delinsAGC (p.Glu3047=)
c.9131_9133delinsAGC (p.Glu3044=)
c.9146_9148delinsAGC (p.Glu3049=)
c.3443_3445delinsAGC (p.Glu1148=)
Xg.31260971C>ACA412652459DMDc.4116G>T (p.Glu1372Asp)
c.66G>T (p.Glu22Asp)
c.1890G>T (p.Glu630Asp)
n.787G>T
n.369G>T
n.788G>T
n.2762G>T
c.1125G>T (p.Glu375Asp)
c.9270G>T (p.Glu3090Asp)
c.5238G>T (p.Glu1746Asp)
c.46G>T
c.9G>T (p.Glu3Asp)
n.2931G>T
n.200G>T
c.1083G>T (p.Glu361Asp)
c.2358G>T (p.Glu786Asp)
c.9258G>T (p.Glu3086Asp)
n.289G>T
c.9255G>T (p.Glu3085Asp)
c.9267G>T (p.Glu3089Asp)
c.9246G>T (p.Glu3082Asp)
c.8901G>T (p.Glu2967Asp)
c.5247G>T (p.Glu1749Asp)
c.9141G>T (p.Glu3047Asp)
c.9132G>T (p.Glu3044Asp)
c.9147G>T (p.Glu3049Asp)
c.3444G>T (p.Glu1148Asp)
Xg.31260971C=CA2422368491DMDc.4116G= (p.Glu1372=)
c.66G= (p.Glu22=)
c.1890G= (p.Glu630=)
n.787G=
n.369G=
n.788G=
n.2762G=
c.1125G= (p.Glu375=)
c.9270G= (p.Glu3090=)
c.5238G= (p.Glu1746=)
c.46G=
c.9G= (p.Glu3=)
n.2931G=
n.200G=
c.1083G= (p.Glu361=)
c.2358G= (p.Glu786=)
c.9258G= (p.Glu3086=)
n.289G=
c.9255G= (p.Glu3085=)
c.9267G= (p.Glu3089=)
c.9246G= (p.Glu3082=)
c.8901G= (p.Glu2967=)
c.5247G= (p.Glu1749=)
c.9141G= (p.Glu3047=)
c.9132G= (p.Glu3044=)
c.9147G= (p.Glu3049=)
c.3444G= (p.Glu1148=)
Xg.31260971C>GCA412652460DMDc.4116G>C (p.Glu1372Asp)
c.66G>C (p.Glu22Asp)
c.1890G>C (p.Glu630Asp)
n.787G>C
n.369G>C
n.788G>C
n.2762G>C
c.1125G>C (p.Glu375Asp)
c.9270G>C (p.Glu3090Asp)
c.5238G>C (p.Glu1746Asp)
c.46G>C
c.9G>C (p.Glu3Asp)
n.2931G>C
n.200G>C
c.1083G>C (p.Glu361Asp)
c.2358G>C (p.Glu786Asp)
c.9258G>C (p.Glu3086Asp)
n.289G>C
c.9255G>C (p.Glu3085Asp)
c.9267G>C (p.Glu3089Asp)
c.9246G>C (p.Glu3082Asp)
c.8901G>C (p.Glu2967Asp)
c.5247G>C (p.Glu1749Asp)
c.9141G>C (p.Glu3047Asp)
c.9132G>C (p.Glu3044Asp)
c.9147G>C (p.Glu3049Asp)
c.3444G>C (p.Glu1148Asp)
Xg.31260971C>TCA10377851DMDc.4116G>A (p.Glu1372=)
c.66G>A (p.Glu22=)
c.1890G>A (p.Glu630=)
n.787G>A
n.369G>A
n.788G>A
n.2762G>A
c.1125G>A (p.Glu375=)
c.9270G>A (p.Glu3090=)
c.5238G>A (p.Glu1746=)
c.46G>A
c.9G>A (p.Glu3=)
n.2931G>A
n.200G>A
c.1083G>A (p.Glu361=)
c.2358G>A (p.Glu786=)
c.9258G>A (p.Glu3086=)
n.289G>A
c.9255G>A (p.Glu3085=)
c.9267G>A (p.Glu3089=)
c.9246G>A (p.Glu3082=)
c.8901G>A (p.Glu2967=)
c.5247G>A (p.Glu1749=)
c.9141G>A (p.Glu3047=)
c.9132G>A (p.Glu3044=)
c.9147G>A (p.Glu3049=)
c.3444G>A (p.Glu1148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31260973_31260974delCA915950890DMDc.4115_4116del (p.Glu1372AlafsTer7)
c.65_66del (p.Glu22AlafsTer7)
c.1889_1890del (p.Glu630AlafsTer7)
n.786_787del
n.368_369del
n.787_788del
n.2761_2762del
c.1124_1125del (p.Glu375AlafsTer7)
c.9269_9270del (p.Glu3090AlafsTer7)
c.5237_5238del (p.Glu1746AlafsTer7)
c.45_46del
c.8_9del (p.Glu3AlafsTer7)
n.2930_2931del
n.199_200del
c.65_66del (p.Glu22AlafsTer10)
c.1082_1083del (p.Glu361AlafsTer7)
c.2357_2358del (p.Glu786AlafsTer7)
c.9257_9258del (p.Glu3086AlafsTer7)
n.288_289del
c.9254_9255del (p.Glu3085AlafsTer7)
c.9266_9267del (p.Glu3089AlafsTer7)
c.9245_9246del (p.Glu3082AlafsTer7)
c.8900_8901del (p.Glu2967AlafsTer7)
c.5246_5247del (p.Glu1749AlafsTer7)
c.9140_9141del (p.Glu3047AlafsTer7)
c.9131_9132del (p.Glu3044AlafsTer7)
c.9146_9147del (p.Glu3049AlafsTer7)
c.3443_3444del (p.Glu1148AlafsTer7)
 ClinVar dbSNP
Xg.31260972T>ACA412652461DMDc.4115A>T (p.Glu1372Val)
c.65A>T (p.Glu22Val)
c.1889A>T (p.Glu630Val)
n.786A>T
n.368A>T
n.787A>T
n.2761A>T
c.1124A>T (p.Glu375Val)
c.9269A>T (p.Glu3090Val)
c.5237A>T (p.Glu1746Val)
c.45A>T
c.8A>T (p.Glu3Val)
n.2930A>T
n.199A>T
c.1082A>T (p.Glu361Val)
c.2357A>T (p.Glu786Val)
c.9257A>T (p.Glu3086Val)
n.288A>T
c.9254A>T (p.Glu3085Val)
c.9266A>T (p.Glu3089Val)
c.9245A>T (p.Glu3082Val)
c.8900A>T (p.Glu2967Val)
c.5246A>T (p.Glu1749Val)
c.9140A>T (p.Glu3047Val)
c.9131A>T (p.Glu3044Val)
c.9146A>T (p.Glu3049Val)
c.3443A>T (p.Glu1148Val)
Xg.31260972T>CCA412652463DMDc.4115A>G (p.Glu1372Gly)
c.65A>G (p.Glu22Gly)
c.1889A>G (p.Glu630Gly)
n.786A>G
n.368A>G
n.787A>G
n.2761A>G
c.1124A>G (p.Glu375Gly)
c.9269A>G (p.Glu3090Gly)
c.5237A>G (p.Glu1746Gly)
c.45A>G
c.8A>G (p.Glu3Gly)
n.2930A>G
n.199A>G
c.1082A>G (p.Glu361Gly)
c.2357A>G (p.Glu786Gly)
c.9257A>G (p.Glu3086Gly)
n.288A>G
c.9254A>G (p.Glu3085Gly)
c.9266A>G (p.Glu3089Gly)
c.9245A>G (p.Glu3082Gly)
c.8900A>G (p.Glu2967Gly)
c.5246A>G (p.Glu1749Gly)
c.9140A>G (p.Glu3047Gly)
c.9131A>G (p.Glu3044Gly)
c.9146A>G (p.Glu3049Gly)
c.3443A>G (p.Glu1148Gly)
Xg.31260972T>GCA412652462DMDc.4115A>C (p.Glu1372Ala)
c.65A>C (p.Glu22Ala)
c.1889A>C (p.Glu630Ala)
n.786A>C
n.368A>C
n.787A>C
n.2761A>C
c.1124A>C (p.Glu375Ala)
c.9269A>C (p.Glu3090Ala)
c.5237A>C (p.Glu1746Ala)
c.45A>C
c.8A>C (p.Glu3Ala)
n.2930A>C
n.199A>C
c.1082A>C (p.Glu361Ala)
c.2357A>C (p.Glu786Ala)
c.9257A>C (p.Glu3086Ala)
n.288A>C
c.9254A>C (p.Glu3085Ala)
c.9266A>C (p.Glu3089Ala)
c.9245A>C (p.Glu3082Ala)
c.8900A>C (p.Glu2967Ala)
c.5246A>C (p.Glu1749Ala)
c.9140A>C (p.Glu3047Ala)
c.9131A>C (p.Glu3044Ala)
c.9146A>C (p.Glu3049Ala)
c.3443A>C (p.Glu1148Ala)
Xg.31260973C>ACA412652464DMDc.4114G>T (p.Glu1372Ter)
c.64G>T (p.Glu22Ter)
c.1888G>T (p.Glu630Ter)
n.785G>T
n.367G>T
n.786G>T
n.2760G>T
c.1123G>T (p.Glu375Ter)
c.9268G>T (p.Glu3090Ter)
c.5236G>T (p.Glu1746Ter)
c.44G>T
c.7G>T (p.Glu3Ter)
n.2929G>T
n.198G>T
c.1081G>T (p.Glu361Ter)
c.2356G>T (p.Glu786Ter)
c.9256G>T (p.Glu3086Ter)
n.287G>T
c.9253G>T (p.Glu3085Ter)
c.9265G>T (p.Glu3089Ter)
c.9244G>T (p.Glu3082Ter)
c.8899G>T (p.Glu2967Ter)
c.5245G>T (p.Glu1749Ter)
c.9139G>T (p.Glu3047Ter)
c.9130G>T (p.Glu3044Ter)
c.9145G>T (p.Glu3049Ter)
c.3442G>T (p.Glu1148Ter)
 ClinVar dbSNP
Xg.31260973C>GCA412652466DMDc.4114G>C (p.Glu1372Gln)
c.64G>C (p.Glu22Gln)
c.1888G>C (p.Glu630Gln)
n.785G>C
n.367G>C
n.786G>C
n.2760G>C
c.1123G>C (p.Glu375Gln)
c.9268G>C (p.Glu3090Gln)
c.5236G>C (p.Glu1746Gln)
c.44G>C
c.7G>C (p.Glu3Gln)
n.2929G>C
n.198G>C
c.1081G>C (p.Glu361Gln)
c.2356G>C (p.Glu786Gln)
c.9256G>C (p.Glu3086Gln)
n.287G>C
c.9253G>C (p.Glu3085Gln)
c.9265G>C (p.Glu3089Gln)
c.9244G>C (p.Glu3082Gln)
c.8899G>C (p.Glu2967Gln)
c.5245G>C (p.Glu1749Gln)
c.9139G>C (p.Glu3047Gln)
c.9130G>C (p.Glu3044Gln)
c.9145G>C (p.Glu3049Gln)
c.3442G>C (p.Glu1148Gln)
Xg.31260973C>TCA412652465DMDc.4114G>A (p.Glu1372Lys)
c.64G>A (p.Glu22Lys)
c.1888G>A (p.Glu630Lys)
n.785G>A
n.367G>A
n.786G>A
n.2760G>A
c.1123G>A (p.Glu375Lys)
c.9268G>A (p.Glu3090Lys)
c.5236G>A (p.Glu1746Lys)
c.44G>A
c.7G>A (p.Glu3Lys)
n.2929G>A
n.198G>A
c.1081G>A (p.Glu361Lys)
c.2356G>A (p.Glu786Lys)
c.9256G>A (p.Glu3086Lys)
n.287G>A
c.9253G>A (p.Glu3085Lys)
c.9265G>A (p.Glu3089Lys)
c.9244G>A (p.Glu3082Lys)
c.8899G>A (p.Glu2967Lys)
c.5245G>A (p.Glu1749Lys)
c.9139G>A (p.Glu3047Lys)
c.9130G>A (p.Glu3044Lys)
c.9145G>A (p.Glu3049Lys)
c.3442G>A (p.Glu1148Lys)
Xg.31260974T>ACA515858531DMDc.4113A>T (p.Thr1371=)
c.63A>T (p.Thr21=)
c.1887A>T (p.Thr629=)
n.784A>T
n.366A>T
n.785A>T
n.2759A>T
c.1122A>T (p.Thr374=)
c.9267A>T (p.Thr3089=)
c.5235A>T (p.Thr1745=)
c.43A>T
c.6A>T (p.Thr2=)
n.2928A>T
n.197A>T
c.1080A>T (p.Thr360=)
c.2355A>T (p.Thr785=)
c.9255A>T (p.Thr3085=)
n.286A>T
c.9252A>T (p.Thr3084=)
c.9264A>T (p.Thr3088=)
c.9243A>T (p.Thr3081=)
c.8898A>T (p.Thr2966=)
c.5244A>T (p.Thr1748=)
c.9138A>T (p.Thr3046=)
c.9129A>T (p.Thr3043=)
c.9144A>T (p.Thr3048=)
c.3441A>T (p.Thr1147=)
Xg.31260974T>CCA515858532DMDc.4113A>G (p.Thr1371=)
c.63A>G (p.Thr21=)
c.1887A>G (p.Thr629=)
n.784A>G
n.366A>G
n.785A>G
n.2759A>G
c.1122A>G (p.Thr374=)
c.9267A>G (p.Thr3089=)
c.5235A>G (p.Thr1745=)
c.43A>G
c.6A>G (p.Thr2=)
n.2928A>G
n.197A>G
c.1080A>G (p.Thr360=)
c.2355A>G (p.Thr785=)
c.9255A>G (p.Thr3085=)
n.286A>G
c.9252A>G (p.Thr3084=)
c.9264A>G (p.Thr3088=)
c.9243A>G (p.Thr3081=)
c.8898A>G (p.Thr2966=)
c.5244A>G (p.Thr1748=)
c.9138A>G (p.Thr3046=)
c.9129A>G (p.Thr3043=)
c.9144A>G (p.Thr3048=)
c.3441A>G (p.Thr1147=)
Xg.31260974T>GCA515858533DMDc.4113A>C (p.Thr1371=)
c.63A>C (p.Thr21=)
c.1887A>C (p.Thr629=)
n.784A>C
n.366A>C
n.785A>C
n.2759A>C
c.1122A>C (p.Thr374=)
c.9267A>C (p.Thr3089=)
c.5235A>C (p.Thr1745=)
c.43A>C
c.6A>C (p.Thr2=)
n.2928A>C
n.197A>C
c.1080A>C (p.Thr360=)
c.2355A>C (p.Thr785=)
c.9255A>C (p.Thr3085=)
n.286A>C
c.9252A>C (p.Thr3084=)
c.9264A>C (p.Thr3088=)
c.9243A>C (p.Thr3081=)
c.8898A>C (p.Thr2966=)
c.5244A>C (p.Thr1748=)
c.9138A>C (p.Thr3046=)
c.9129A>C (p.Thr3043=)
c.9144A>C (p.Thr3048=)
c.3441A>C (p.Thr1147=)
Xg.31260975G>ACA412652467DMDc.4112C>T (p.Thr1371Ile)
c.62C>T (p.Thr21Ile)
c.1886C>T (p.Thr629Ile)
n.783C>T
n.365C>T
n.784C>T
n.2758C>T
c.1121C>T (p.Thr374Ile)
c.9266C>T (p.Thr3089Ile)
c.5234C>T (p.Thr1745Ile)
c.42C>T
c.5C>T (p.Thr2Ile)
n.2927C>T
n.196C>T
c.1079C>T (p.Thr360Ile)
c.2354C>T (p.Thr785Ile)
c.9254C>T (p.Thr3085Ile)
n.285C>T
c.9251C>T (p.Thr3084Ile)
c.9263C>T (p.Thr3088Ile)
c.9242C>T (p.Thr3081Ile)
c.8897C>T (p.Thr2966Ile)
c.5243C>T (p.Thr1748Ile)
c.9137C>T (p.Thr3046Ile)
c.9128C>T (p.Thr3043Ile)
c.9143C>T (p.Thr3048Ile)
c.3440C>T (p.Thr1147Ile)
 ClinVar dbSNP
Xg.31260975G>CCA412652469DMDc.4112C>G (p.Thr1371Arg)
c.62C>G (p.Thr21Arg)
c.1886C>G (p.Thr629Arg)
n.783C>G
n.365C>G
n.784C>G
n.2758C>G
c.1121C>G (p.Thr374Arg)
c.9266C>G (p.Thr3089Arg)
c.5234C>G (p.Thr1745Arg)
c.42C>G
c.5C>G (p.Thr2Arg)
n.2927C>G
n.196C>G
c.1079C>G (p.Thr360Arg)
c.2354C>G (p.Thr785Arg)
c.9254C>G (p.Thr3085Arg)
n.285C>G
c.9251C>G (p.Thr3084Arg)
c.9263C>G (p.Thr3088Arg)
c.9242C>G (p.Thr3081Arg)
c.8897C>G (p.Thr2966Arg)
c.5243C>G (p.Thr1748Arg)
c.9137C>G (p.Thr3046Arg)
c.9128C>G (p.Thr3043Arg)
c.9143C>G (p.Thr3048Arg)
c.3440C>G (p.Thr1147Arg)
Xg.31260975G>TCA412652468DMDc.4112C>A (p.Thr1371Lys)
c.62C>A (p.Thr21Lys)
c.1886C>A (p.Thr629Lys)
n.783C>A
n.365C>A
n.784C>A
n.2758C>A
c.1121C>A (p.Thr374Lys)
c.9266C>A (p.Thr3089Lys)
c.5234C>A (p.Thr1745Lys)
c.42C>A
c.5C>A (p.Thr2Lys)
n.2927C>A
n.196C>A
c.1079C>A (p.Thr360Lys)
c.2354C>A (p.Thr785Lys)
c.9254C>A (p.Thr3085Lys)
n.285C>A
c.9251C>A (p.Thr3084Lys)
c.9263C>A (p.Thr3088Lys)
c.9242C>A (p.Thr3081Lys)
c.8897C>A (p.Thr2966Lys)
c.5243C>A (p.Thr1748Lys)
c.9137C>A (p.Thr3046Lys)
c.9128C>A (p.Thr3043Lys)
c.9143C>A (p.Thr3048Lys)
c.3440C>A (p.Thr1147Lys)
Xg.31260976T>ACA10377852DMDc.4111A>T (p.Thr1371Ser)
c.61A>T (p.Thr21Ser)
c.1885A>T (p.Thr629Ser)
n.782A>T
n.364A>T
n.783A>T
n.2757A>T
c.1120A>T (p.Thr374Ser)
c.9265A>T (p.Thr3089Ser)
c.5233A>T (p.Thr1745Ser)
c.41A>T
c.4A>T (p.Thr2Ser)
n.2926A>T
n.195A>T
c.1078A>T (p.Thr360Ser)
c.2353A>T (p.Thr785Ser)
c.9253A>T (p.Thr3085Ser)
n.284A>T
c.9250A>T (p.Thr3084Ser)
c.9262A>T (p.Thr3088Ser)
c.9241A>T (p.Thr3081Ser)
c.8896A>T (p.Thr2966Ser)
c.5242A>T (p.Thr1748Ser)
c.9136A>T (p.Thr3046Ser)
c.9127A>T (p.Thr3043Ser)
c.9142A>T (p.Thr3048Ser)
c.3439A>T (p.Thr1147Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31260976T>CCA412652470DMDc.4111A>G (p.Thr1371Ala)
c.61A>G (p.Thr21Ala)
c.1885A>G (p.Thr629Ala)
n.782A>G
n.364A>G
n.783A>G
n.2757A>G
c.1120A>G (p.Thr374Ala)
c.9265A>G (p.Thr3089Ala)
c.5233A>G (p.Thr1745Ala)
c.41A>G
c.4A>G (p.Thr2Ala)
n.2926A>G
n.195A>G
c.1078A>G (p.Thr360Ala)
c.2353A>G (p.Thr785Ala)
c.9253A>G (p.Thr3085Ala)
n.284A>G
c.9250A>G (p.Thr3084Ala)
c.9262A>G (p.Thr3088Ala)
c.9241A>G (p.Thr3081Ala)
c.8896A>G (p.Thr2966Ala)
c.5242A>G (p.Thr1748Ala)
c.9136A>G (p.Thr3046Ala)
c.9127A>G (p.Thr3043Ala)
c.9142A>G (p.Thr3048Ala)
c.3439A>G (p.Thr1147Ala)
Xg.31260976T>GCA412652471DMDc.4111A>C (p.Thr1371Pro)
c.61A>C (p.Thr21Pro)
c.1885A>C (p.Thr629Pro)
n.782A>C
n.364A>C
n.783A>C
n.2757A>C
c.1120A>C (p.Thr374Pro)
c.9265A>C (p.Thr3089Pro)
c.5233A>C (p.Thr1745Pro)
c.41A>C
c.4A>C (p.Thr2Pro)
n.2926A>C
n.195A>C
c.1078A>C (p.Thr360Pro)
c.2353A>C (p.Thr785Pro)
c.9253A>C (p.Thr3085Pro)
n.284A>C
c.9250A>C (p.Thr3084Pro)
c.9262A>C (p.Thr3088Pro)
c.9241A>C (p.Thr3081Pro)
c.8896A>C (p.Thr2966Pro)
c.5242A>C (p.Thr1748Pro)
c.9136A>C (p.Thr3046Pro)
c.9127A>C (p.Thr3043Pro)
c.9142A>C (p.Thr3048Pro)
c.3439A>C (p.Thr1147Pro)
Xg.31260976T=CA2422368492DMDc.4111A= (p.Thr1371=)
c.61A= (p.Thr21=)
c.1885A= (p.Thr629=)
n.782A=
n.364A=
n.783A=
n.2757A=
c.1120A= (p.Thr374=)
c.9265A= (p.Thr3089=)
c.5233A= (p.Thr1745=)
c.41A=
c.4A= (p.Thr2=)
n.2926A=
n.195A=
c.1078A= (p.Thr360=)
c.2353A= (p.Thr785=)
c.9253A= (p.Thr3085=)
n.284A=
c.9250A= (p.Thr3084=)
c.9262A= (p.Thr3088=)
c.9241A= (p.Thr3081=)
c.8896A= (p.Thr2966=)
c.5242A= (p.Thr1748=)
c.9136A= (p.Thr3046=)
c.9127A= (p.Thr3043=)
c.9142A= (p.Thr3048=)
c.3439A= (p.Thr1147=)
Xg.31260977C>ACA412652472DMDc.4110G>T (p.Met1370Ile)
c.60G>T (p.Met20Ile)
c.1884G>T (p.Met628Ile)
n.781G>T
n.363G>T
n.782G>T
n.2756G>T
c.1119G>T (p.Met373Ile)
c.9264G>T (p.Met3088Ile)
c.5232G>T (p.Met1744Ile)
c.40G>T
c.3G>T (p.Met1Ile)
n.2925G>T
n.194G>T
c.1077G>T (p.Met359Ile)
c.2352G>T (p.Met784Ile)
c.9252G>T (p.Met3084Ile)
n.283G>T
c.9249G>T (p.Met3083Ile)
c.9261G>T (p.Met3087Ile)
c.9240G>T (p.Met3080Ile)
c.8895G>T (p.Met2965Ile)
c.5241G>T (p.Met1747Ile)
c.9135G>T (p.Met3045Ile)
c.9126G>T (p.Met3042Ile)
c.9141G>T (p.Met3047Ile)
c.3438G>T (p.Met1146Ile)
Xg.31260977C>GCA412652473DMDc.4110G>C (p.Met1370Ile)
c.60G>C (p.Met20Ile)
c.1884G>C (p.Met628Ile)
n.781G>C
n.363G>C
n.782G>C
n.2756G>C
c.1119G>C (p.Met373Ile)
c.9264G>C (p.Met3088Ile)
c.5232G>C (p.Met1744Ile)
c.40G>C
c.3G>C (p.Met1Ile)
n.2925G>C
n.194G>C
c.1077G>C (p.Met359Ile)
c.2352G>C (p.Met784Ile)
c.9252G>C (p.Met3084Ile)
n.283G>C
c.9249G>C (p.Met3083Ile)
c.9261G>C (p.Met3087Ile)
c.9240G>C (p.Met3080Ile)
c.8895G>C (p.Met2965Ile)
c.5241G>C (p.Met1747Ile)
c.9135G>C (p.Met3045Ile)
c.9126G>C (p.Met3042Ile)
c.9141G>C (p.Met3047Ile)
c.3438G>C (p.Met1146Ile)
Xg.31260977C>TCA412652474DMDc.4110G>A (p.Met1370Ile)
c.60G>A (p.Met20Ile)
c.1884G>A (p.Met628Ile)
n.781G>A
n.363G>A
n.782G>A
n.2756G>A
c.1119G>A (p.Met373Ile)
c.9264G>A (p.Met3088Ile)
c.5232G>A (p.Met1744Ile)
c.40G>A
c.3G>A (p.Met1Ile)
n.2925G>A
n.194G>A
c.1077G>A (p.Met359Ile)
c.2352G>A (p.Met784Ile)
c.9252G>A (p.Met3084Ile)
n.283G>A
c.9249G>A (p.Met3083Ile)
c.9261G>A (p.Met3087Ile)
c.9240G>A (p.Met3080Ile)
c.8895G>A (p.Met2965Ile)
c.5241G>A (p.Met1747Ile)
c.9135G>A (p.Met3045Ile)
c.9126G>A (p.Met3042Ile)
c.9141G>A (p.Met3047Ile)
c.3438G>A (p.Met1146Ile)
Xg.31260978A>CCA412652475DMDc.4109T>G (p.Met1370Arg)
c.59T>G (p.Met20Arg)
c.1883T>G (p.Met628Arg)
n.780T>G
n.362T>G
n.781T>G
n.2755T>G
c.1118T>G (p.Met373Arg)
c.9263T>G (p.Met3088Arg)
c.5231T>G (p.Met1744Arg)
c.39T>G
c.2T>G (p.Met1Arg)
n.2924T>G
n.193T>G
c.1076T>G (p.Met359Arg)
c.2351T>G (p.Met784Arg)
c.9251T>G (p.Met3084Arg)
n.282T>G
c.9248T>G (p.Met3083Arg)
c.9260T>G (p.Met3087Arg)
c.9239T>G (p.Met3080Arg)
c.8894T>G (p.Met2965Arg)
c.5240T>G (p.Met1747Arg)
c.9134T>G (p.Met3045Arg)
c.9125T>G (p.Met3042Arg)
c.9140T>G (p.Met3047Arg)
c.3437T>G (p.Met1146Arg)
Xg.31260978A>GCA412652476DMDc.4109T>C (p.Met1370Thr)
c.59T>C (p.Met20Thr)
c.1883T>C (p.Met628Thr)
n.780T>C
n.362T>C
n.781T>C
n.2755T>C
c.1118T>C (p.Met373Thr)
c.9263T>C (p.Met3088Thr)
c.5231T>C (p.Met1744Thr)
c.39T>C
c.2T>C (p.Met1Thr)
n.2924T>C
n.193T>C
c.1076T>C (p.Met359Thr)
c.2351T>C (p.Met784Thr)
c.9251T>C (p.Met3084Thr)
n.282T>C
c.9248T>C (p.Met3083Thr)
c.9260T>C (p.Met3087Thr)
c.9239T>C (p.Met3080Thr)
c.8894T>C (p.Met2965Thr)
c.5240T>C (p.Met1747Thr)
c.9134T>C (p.Met3045Thr)
c.9125T>C (p.Met3042Thr)
c.9140T>C (p.Met3047Thr)
c.3437T>C (p.Met1146Thr)
Xg.31260978A>TCA412652477DMDc.4109T>A (p.Met1370Lys)
c.59T>A (p.Met20Lys)
c.1883T>A (p.Met628Lys)
n.780T>A
n.362T>A
n.781T>A
n.2755T>A
c.1118T>A (p.Met373Lys)
c.9263T>A (p.Met3088Lys)
c.5231T>A (p.Met1744Lys)
c.39T>A
c.2T>A (p.Met1Lys)
n.2924T>A
n.193T>A
c.1076T>A (p.Met359Lys)
c.2351T>A (p.Met784Lys)
c.9251T>A (p.Met3084Lys)
n.282T>A
c.9248T>A (p.Met3083Lys)
c.9260T>A (p.Met3087Lys)
c.9239T>A (p.Met3080Lys)
c.8894T>A (p.Met2965Lys)
c.5240T>A (p.Met1747Lys)
c.9134T>A (p.Met3045Lys)
c.9125T>A (p.Met3042Lys)
c.9140T>A (p.Met3047Lys)
c.3437T>A (p.Met1146Lys)
Xg.31260979T>ACA412652480DMDc.4108A>T (p.Met1370Leu)
c.58A>T (p.Met20Leu)
c.1882A>T (p.Met628Leu)
n.779A>T
n.361A>T
n.780A>T
n.2754A>T
c.1117A>T (p.Met373Leu)
c.9262A>T (p.Met3088Leu)
c.5230A>T (p.Met1744Leu)
c.38A>T
c.1A>T (p.Met1Leu)
n.2923A>T
n.192A>T
c.1075A>T (p.Met359Leu)
c.2350A>T (p.Met784Leu)
c.9250A>T (p.Met3084Leu)
n.281A>T
c.9247A>T (p.Met3083Leu)
c.9259A>T (p.Met3087Leu)
c.9238A>T (p.Met3080Leu)
c.8893A>T (p.Met2965Leu)
c.5239A>T (p.Met1747Leu)
c.9133A>T (p.Met3045Leu)
c.9124A>T (p.Met3042Leu)
c.9139A>T (p.Met3047Leu)
c.3436A>T (p.Met1146Leu)
Xg.31260979T>CCA412652479DMDc.4108A>G (p.Met1370Val)
c.58A>G (p.Met20Val)
c.1882A>G (p.Met628Val)
n.779A>G
n.361A>G
n.780A>G
n.2754A>G
c.1117A>G (p.Met373Val)
c.9262A>G (p.Met3088Val)
c.5230A>G (p.Met1744Val)
c.38A>G
c.1A>G (p.Met1Val)
n.2923A>G
n.192A>G
c.1075A>G (p.Met359Val)
c.2350A>G (p.Met784Val)
c.9250A>G (p.Met3084Val)
n.281A>G
c.9247A>G (p.Met3083Val)
c.9259A>G (p.Met3087Val)
c.9238A>G (p.Met3080Val)
c.8893A>G (p.Met2965Val)
c.5239A>G (p.Met1747Val)
c.9133A>G (p.Met3045Val)
c.9124A>G (p.Met3042Val)
c.9139A>G (p.Met3047Val)
c.3436A>G (p.Met1146Val)
Xg.31260979T>GCA412652478DMDc.4108A>C (p.Met1370Leu)
c.58A>C (p.Met20Leu)
c.1882A>C (p.Met628Leu)
n.779A>C
n.361A>C
n.780A>C
n.2754A>C
c.1117A>C (p.Met373Leu)
c.9262A>C (p.Met3088Leu)
c.5230A>C (p.Met1744Leu)
c.38A>C
c.1A>C (p.Met1Leu)
n.2923A>C
n.192A>C
c.1075A>C (p.Met359Leu)
c.2350A>C (p.Met784Leu)
c.9250A>C (p.Met3084Leu)
n.281A>C
c.9247A>C (p.Met3083Leu)
c.9259A>C (p.Met3087Leu)
c.9238A>C (p.Met3080Leu)
c.8893A>C (p.Met2965Leu)
c.5239A>C (p.Met1747Leu)
c.9133A>C (p.Met3045Leu)
c.9124A>C (p.Met3042Leu)
c.9139A>C (p.Met3047Leu)
c.3436A>C (p.Met1146Leu)
Xg.31260982delCA2693387407DMDc.4108del (p.Met1370Ter)
c.58del (p.Met20Ter)
c.1882del (p.Met628Ter)
n.779del
n.361del
n.780del
n.2754del
c.1117del (p.Met373Ter)
c.9262del (p.Met3088Ter)
c.5230del (p.Met1744Ter)
c.38del
c.1del (p.Met1Ter)
n.2923del
n.192del
c.1075del (p.Met359Ter)
c.2350del (p.Met784Ter)
c.9250del (p.Met3084Ter)
n.281del
c.9247del (p.Met3083Ter)
c.9259del (p.Met3087Ter)
c.9238del (p.Met3080Ter)
c.8893del (p.Met2965Ter)
c.5239del (p.Met1747Ter)
c.9133del (p.Met3045Ter)
c.9124del (p.Met3042Ter)
c.9139del (p.Met3047Ter)
c.3436del (p.Met1146Ter)
 gnomAD v4
Xg.31260980T>ACA412652481DMDc.4107A>T (p.Lys1369Asn)
c.57A>T (p.Lys19Asn)
c.1881A>T (p.Lys627Asn)
n.778A>T
n.360A>T
n.779A>T
n.2753A>T
c.1116A>T (p.Lys372Asn)
c.9261A>T (p.Lys3087Asn)
c.5229A>T (p.Lys1743Asn)
c.37A>T
c.-1A>T (n.-1A>T)
n.2922A>T
n.191A>T
c.1074A>T (p.Lys358Asn)
c.2349A>T (p.Lys783Asn)
c.9249A>T (p.Lys3083Asn)
n.280A>T
c.9246A>T (p.Lys3082Asn)
c.9258A>T (p.Lys3086Asn)
c.9237A>T (p.Lys3079Asn)
c.8892A>T (p.Lys2964Asn)
c.5238A>T (p.Lys1746Asn)
c.9132A>T (p.Lys3044Asn)
c.9123A>T (p.Lys3041Asn)
c.9138A>T (p.Lys3046Asn)
c.3435A>T (p.Lys1145Asn)
Xg.31260980T>CCA515858535DMDc.4107A>G (p.Lys1369=)
c.57A>G (p.Lys19=)
c.1881A>G (p.Lys627=)
n.778A>G
n.360A>G
n.779A>G
n.2753A>G
c.1116A>G (p.Lys372=)
c.9261A>G (p.Lys3087=)
c.5229A>G (p.Lys1743=)
c.37A>G
c.-1A>G (n.-1A>G)
n.2922A>G
n.191A>G
c.1074A>G (p.Lys358=)
c.2349A>G (p.Lys783=)
c.9249A>G (p.Lys3083=)
n.280A>G
c.9246A>G (p.Lys3082=)
c.9258A>G (p.Lys3086=)
c.9237A>G (p.Lys3079=)
c.8892A>G (p.Lys2964=)
c.5238A>G (p.Lys1746=)
c.9132A>G (p.Lys3044=)
c.9123A>G (p.Lys3041=)
c.9138A>G (p.Lys3046=)
c.3435A>G (p.Lys1145=)
Xg.31260980T>GCA412652482DMDc.4107A>C (p.Lys1369Asn)
c.57A>C (p.Lys19Asn)
c.1881A>C (p.Lys627Asn)
n.778A>C
n.360A>C
n.779A>C
n.2753A>C
c.1116A>C (p.Lys372Asn)
c.9261A>C (p.Lys3087Asn)
c.5229A>C (p.Lys1743Asn)
c.37A>C
c.-1A>C (n.-1A>C)
n.2922A>C
n.191A>C
c.1074A>C (p.Lys358Asn)
c.2349A>C (p.Lys783Asn)
c.9249A>C (p.Lys3083Asn)
n.280A>C
c.9246A>C (p.Lys3082Asn)
c.9258A>C (p.Lys3086Asn)
c.9237A>C (p.Lys3079Asn)
c.8892A>C (p.Lys2964Asn)
c.5238A>C (p.Lys1746Asn)
c.9132A>C (p.Lys3044Asn)
c.9123A>C (p.Lys3041Asn)
c.9138A>C (p.Lys3046Asn)
c.3435A>C (p.Lys1145Asn)
Xg.31260981T>ACA412652483DMDc.4106A>T (p.Lys1369Ile)
c.56A>T (p.Lys19Ile)
c.1880A>T (p.Lys627Ile)
n.777A>T
n.359A>T
n.778A>T
n.2752A>T
c.1115A>T (p.Lys372Ile)
c.9260A>T (p.Lys3087Ile)
c.5228A>T (p.Lys1743Ile)
c.36A>T
c.-2A>T (n.-2A>T)
n.2921A>T
n.190A>T
c.1073A>T (p.Lys358Ile)
c.2348A>T (p.Lys783Ile)
c.9248A>T (p.Lys3083Ile)
n.279A>T
c.9245A>T (p.Lys3082Ile)
c.9257A>T (p.Lys3086Ile)
c.9236A>T (p.Lys3079Ile)
c.8891A>T (p.Lys2964Ile)
c.5237A>T (p.Lys1746Ile)
c.9131A>T (p.Lys3044Ile)
c.9122A>T (p.Lys3041Ile)
c.9137A>T (p.Lys3046Ile)
c.3434A>T (p.Lys1145Ile)
 gnomAD v4
Xg.31260981T>CCA412652484DMDc.4106A>G (p.Lys1369Arg)
c.56A>G (p.Lys19Arg)
c.1880A>G (p.Lys627Arg)
n.777A>G
n.359A>G
n.778A>G
n.2752A>G
c.1115A>G (p.Lys372Arg)
c.9260A>G (p.Lys3087Arg)
c.5228A>G (p.Lys1743Arg)
c.36A>G
c.-2A>G (n.-2A>G)
n.2921A>G
n.190A>G
c.1073A>G (p.Lys358Arg)
c.2348A>G (p.Lys783Arg)
c.9248A>G (p.Lys3083Arg)
n.279A>G
c.9245A>G (p.Lys3082Arg)
c.9257A>G (p.Lys3086Arg)
c.9236A>G (p.Lys3079Arg)
c.8891A>G (p.Lys2964Arg)
c.5237A>G (p.Lys1746Arg)
c.9131A>G (p.Lys3044Arg)
c.9122A>G (p.Lys3041Arg)
c.9137A>G (p.Lys3046Arg)
c.3434A>G (p.Lys1145Arg)
Xg.31260981T>GCA412652485DMDc.4106A>C (p.Lys1369Thr)
c.56A>C (p.Lys19Thr)
c.1880A>C (p.Lys627Thr)
n.777A>C
n.359A>C
n.778A>C
n.2752A>C
c.1115A>C (p.Lys372Thr)
c.9260A>C (p.Lys3087Thr)
c.5228A>C (p.Lys1743Thr)
c.36A>C
c.-2A>C (n.-2A>C)
n.2921A>C
n.190A>C
c.1073A>C (p.Lys358Thr)
c.2348A>C (p.Lys783Thr)
c.9248A>C (p.Lys3083Thr)
n.279A>C
c.9245A>C (p.Lys3082Thr)
c.9257A>C (p.Lys3086Thr)
c.9236A>C (p.Lys3079Thr)
c.8891A>C (p.Lys2964Thr)
c.5237A>C (p.Lys1746Thr)
c.9131A>C (p.Lys3044Thr)
c.9122A>C (p.Lys3041Thr)
c.9137A>C (p.Lys3046Thr)
c.3434A>C (p.Lys1145Thr)
 gnomAD v4
Xg.31260982T>ACA412652486DMDc.4105A>T (p.Lys1369Ter)
c.55A>T (p.Lys19Ter)
c.1879A>T (p.Lys627Ter)
n.776A>T
n.358A>T
n.777A>T
n.2751A>T
c.1114A>T (p.Lys372Ter)
c.9259A>T (p.Lys3087Ter)
c.5227A>T (p.Lys1743Ter)
c.35A>T
c.-3A>T (n.-3A>T)
n.2920A>T
n.189A>T
c.1072A>T (p.Lys358Ter)
c.2347A>T (p.Lys783Ter)
c.9247A>T (p.Lys3083Ter)
n.278A>T
c.9244A>T (p.Lys3082Ter)
c.9256A>T (p.Lys3086Ter)
c.9235A>T (p.Lys3079Ter)
c.8890A>T (p.Lys2964Ter)
c.5236A>T (p.Lys1746Ter)
c.9130A>T (p.Lys3044Ter)
c.9121A>T (p.Lys3041Ter)
c.9136A>T (p.Lys3046Ter)
c.3433A>T (p.Lys1145Ter)
Xg.31260982T>CCA412652487DMDc.4105A>G (p.Lys1369Glu)
c.55A>G (p.Lys19Glu)
c.1879A>G (p.Lys627Glu)
n.776A>G
n.358A>G
n.777A>G
n.2751A>G
c.1114A>G (p.Lys372Glu)
c.9259A>G (p.Lys3087Glu)
c.5227A>G (p.Lys1743Glu)
c.35A>G
c.-3A>G (n.-3A>G)
n.2920A>G
n.189A>G
c.1072A>G (p.Lys358Glu)
c.2347A>G (p.Lys783Glu)
c.9247A>G (p.Lys3083Glu)
n.278A>G
c.9244A>G (p.Lys3082Glu)
c.9256A>G (p.Lys3086Glu)
c.9235A>G (p.Lys3079Glu)
c.8890A>G (p.Lys2964Glu)
c.5236A>G (p.Lys1746Glu)
c.9130A>G (p.Lys3044Glu)
c.9121A>G (p.Lys3041Glu)
c.9136A>G (p.Lys3046Glu)
c.3433A>G (p.Lys1145Glu)
Xg.31260982T>GCA412652488DMDc.4105A>C (p.Lys1369Gln)
c.55A>C (p.Lys19Gln)
c.1879A>C (p.Lys627Gln)
n.776A>C
n.358A>C
n.777A>C
n.2751A>C
c.1114A>C (p.Lys372Gln)
c.9259A>C (p.Lys3087Gln)
c.5227A>C (p.Lys1743Gln)
c.35A>C
c.-3A>C (n.-3A>C)
n.2920A>C
n.189A>C
c.1072A>C (p.Lys358Gln)
c.2347A>C (p.Lys783Gln)
c.9247A>C (p.Lys3083Gln)
n.278A>C
c.9244A>C (p.Lys3082Gln)
c.9256A>C (p.Lys3086Gln)
c.9235A>C (p.Lys3079Gln)
c.8890A>C (p.Lys2964Gln)
c.5236A>C (p.Lys1746Gln)
c.9130A>C (p.Lys3044Gln)
c.9121A>C (p.Lys3041Gln)
c.9136A>C (p.Lys3046Gln)
c.3433A>C (p.Lys1145Gln)
Xg.31260983G>ACA515858536DMDc.4104C>T (p.Pro1368=)
c.54C>T (p.Pro18=)
c.1878C>T (p.Pro626=)
n.775C>T
n.357C>T
n.776C>T
n.2750C>T
c.1113C>T (p.Pro371=)
c.9258C>T (p.Pro3086=)
c.5226C>T (p.Pro1742=)
c.34C>T
c.-4C>T (n.-4C>T)
n.2919C>T
n.188C>T
c.1071C>T (p.Pro357=)
c.2346C>T (p.Pro782=)
c.9246C>T (p.Pro3082=)
n.277C>T
c.9243C>T (p.Pro3081=)
c.9255C>T (p.Pro3085=)
c.9234C>T (p.Pro3078=)
c.8889C>T (p.Pro2963=)
c.5235C>T (p.Pro1745=)
c.9129C>T (p.Pro3043=)
c.9120C>T (p.Pro3040=)
c.9135C>T (p.Pro3045=)
c.3432C>T (p.Pro1144=)
Xg.31260983G>CCA515858537DMDc.4104C>G (p.Pro1368=)
c.54C>G (p.Pro18=)
c.1878C>G (p.Pro626=)
n.775C>G
n.357C>G
n.776C>G
n.2750C>G
c.1113C>G (p.Pro371=)
c.9258C>G (p.Pro3086=)
c.5226C>G (p.Pro1742=)
c.34C>G
c.-4C>G (n.-4C>G)
n.2919C>G
n.188C>G
c.1071C>G (p.Pro357=)
c.2346C>G (p.Pro782=)
c.9246C>G (p.Pro3082=)
n.277C>G
c.9243C>G (p.Pro3081=)
c.9255C>G (p.Pro3085=)
c.9234C>G (p.Pro3078=)
c.8889C>G (p.Pro2963=)
c.5235C>G (p.Pro1745=)
c.9129C>G (p.Pro3043=)
c.9120C>G (p.Pro3040=)
c.9135C>G (p.Pro3045=)
c.3432C>G (p.Pro1144=)
Xg.31260983G>TCA515858538DMDc.4104C>A (p.Pro1368=)
c.54C>A (p.Pro18=)
c.1878C>A (p.Pro626=)
n.775C>A
n.357C>A
n.776C>A
n.2750C>A
c.1113C>A (p.Pro371=)
c.9258C>A (p.Pro3086=)
c.5226C>A (p.Pro1742=)
c.34C>A
c.-4C>A (n.-4C>A)
n.2919C>A
n.188C>A
c.1071C>A (p.Pro357=)
c.2346C>A (p.Pro782=)
c.9246C>A (p.Pro3082=)
n.277C>A
c.9243C>A (p.Pro3081=)
c.9255C>A (p.Pro3085=)
c.9234C>A (p.Pro3078=)
c.8889C>A (p.Pro2963=)
c.5235C>A (p.Pro1745=)
c.9129C>A (p.Pro3043=)
c.9120C>A (p.Pro3040=)
c.9135C>A (p.Pro3045=)
c.3432C>A (p.Pro1144=)
 ClinVar dbSNP
Xg.31260985delCA2695232327DMDc.4104del (p.Met1370Ter)
c.54del (p.Met20Ter)
c.1878del (p.Met628Ter)
n.775del
n.357del
n.776del
n.2750del
c.1113del (p.Met373Ter)
c.9258del (p.Met3088Ter)
c.5226del (p.Met1744Ter)
c.34del
c.-4del (n.-4del)
n.2919del
n.188del
c.1071del (p.Met359Ter)
c.2346del (p.Met784Ter)
c.9246del (p.Met3084Ter)
n.277del
c.9243del (p.Met3083Ter)
c.9255del (p.Met3087Ter)
c.9234del (p.Met3080Ter)
c.8889del (p.Met2965Ter)
c.5235del (p.Met1747Ter)
c.9129del (p.Met3045Ter)
c.9120del (p.Met3042Ter)
c.9135del (p.Met3047Ter)
c.3432del (p.Met1146Ter)
Xg.31260984G>ACA412652489DMDc.4103C>T (p.Pro1368Leu)
c.53C>T (p.Pro18Leu)
c.1877C>T (p.Pro626Leu)
n.774C>T
n.356C>T
n.775C>T
n.2749C>T
c.1112C>T (p.Pro371Leu)
c.9257C>T (p.Pro3086Leu)
c.5225C>T (p.Pro1742Leu)
c.33C>T
c.-5C>T (n.-5C>T)
n.2918C>T
n.187C>T
c.1070C>T (p.Pro357Leu)
c.2345C>T (p.Pro782Leu)
c.9245C>T (p.Pro3082Leu)
n.276C>T
c.9242C>T (p.Pro3081Leu)
c.9254C>T (p.Pro3085Leu)
c.9233C>T (p.Pro3078Leu)
c.8888C>T (p.Pro2963Leu)
c.5234C>T (p.Pro1745Leu)
c.9128C>T (p.Pro3043Leu)
c.9119C>T (p.Pro3040Leu)
c.9134C>T (p.Pro3045Leu)
c.3431C>T (p.Pro1144Leu)
Xg.31260984G>CCA412652490DMDc.4103C>G (p.Pro1368Arg)
c.53C>G (p.Pro18Arg)
c.1877C>G (p.Pro626Arg)
n.774C>G
n.356C>G
n.775C>G
n.2749C>G
c.1112C>G (p.Pro371Arg)
c.9257C>G (p.Pro3086Arg)
c.5225C>G (p.Pro1742Arg)
c.33C>G
c.-5C>G (n.-5C>G)
n.2918C>G
n.187C>G
c.1070C>G (p.Pro357Arg)
c.2345C>G (p.Pro782Arg)
c.9245C>G (p.Pro3082Arg)
n.276C>G
c.9242C>G (p.Pro3081Arg)
c.9254C>G (p.Pro3085Arg)
c.9233C>G (p.Pro3078Arg)
c.8888C>G (p.Pro2963Arg)
c.5234C>G (p.Pro1745Arg)
c.9128C>G (p.Pro3043Arg)
c.9119C>G (p.Pro3040Arg)
c.9134C>G (p.Pro3045Arg)
c.3431C>G (p.Pro1144Arg)
Xg.31260984G>TCA412652491DMDc.4103C>A (p.Pro1368His)
c.53C>A (p.Pro18His)
c.1877C>A (p.Pro626His)
n.774C>A
n.356C>A
n.775C>A
n.2749C>A
c.1112C>A (p.Pro371His)
c.9257C>A (p.Pro3086His)
c.5225C>A (p.Pro1742His)
c.33C>A
c.-5C>A (n.-5C>A)
n.2918C>A
n.187C>A
c.1070C>A (p.Pro357His)
c.2345C>A (p.Pro782His)
c.9245C>A (p.Pro3082His)
n.276C>A
c.9242C>A (p.Pro3081His)
c.9254C>A (p.Pro3085His)
c.9233C>A (p.Pro3078His)
c.8888C>A (p.Pro2963His)
c.5234C>A (p.Pro1745His)
c.9128C>A (p.Pro3043His)
c.9119C>A (p.Pro3040His)
c.9134C>A (p.Pro3045His)
c.3431C>A (p.Pro1144His)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31260985G>ACA412652493DMDc.4102C>T (p.Pro1368Ser)
c.52C>T (p.Pro18Ser)
c.1876C>T (p.Pro626Ser)
n.773C>T
n.355C>T
n.774C>T
n.2748C>T
c.1111C>T (p.Pro371Ser)
c.9256C>T (p.Pro3086Ser)
c.5224C>T (p.Pro1742Ser)
c.32C>T
c.-6C>T (n.-6C>T)
n.2917C>T
n.186C>T
c.1069C>T (p.Pro357Ser)
c.2344C>T (p.Pro782Ser)
c.9244C>T (p.Pro3082Ser)
n.275C>T
c.9241C>T (p.Pro3081Ser)
c.9253C>T (p.Pro3085Ser)
c.9232C>T (p.Pro3078Ser)
c.8887C>T (p.Pro2963Ser)
c.5233C>T (p.Pro1745Ser)
c.9127C>T (p.Pro3043Ser)
c.9118C>T (p.Pro3040Ser)
c.9133C>T (p.Pro3045Ser)
c.3430C>T (p.Pro1144Ser)
Xg.31260985G>CCA412652494DMDc.4102C>G (p.Pro1368Ala)
c.52C>G (p.Pro18Ala)
c.1876C>G (p.Pro626Ala)
n.773C>G
n.355C>G
n.774C>G
n.2748C>G
c.1111C>G (p.Pro371Ala)
c.9256C>G (p.Pro3086Ala)
c.5224C>G (p.Pro1742Ala)
c.32C>G
c.-6C>G (n.-6C>G)
n.2917C>G
n.186C>G
c.1069C>G (p.Pro357Ala)
c.2344C>G (p.Pro782Ala)
c.9244C>G (p.Pro3082Ala)
n.275C>G
c.9241C>G (p.Pro3081Ala)
c.9253C>G (p.Pro3085Ala)
c.9232C>G (p.Pro3078Ala)
c.8887C>G (p.Pro2963Ala)
c.5233C>G (p.Pro1745Ala)
c.9127C>G (p.Pro3043Ala)
c.9118C>G (p.Pro3040Ala)
c.9133C>G (p.Pro3045Ala)
c.3430C>G (p.Pro1144Ala)
Xg.31260985G>TCA412652492DMDc.4102C>A (p.Pro1368Thr)
c.52C>A (p.Pro18Thr)
c.1876C>A (p.Pro626Thr)
n.773C>A
n.355C>A
n.774C>A
n.2748C>A
c.1111C>A (p.Pro371Thr)
c.9256C>A (p.Pro3086Thr)
c.5224C>A (p.Pro1742Thr)
c.32C>A
c.-6C>A (n.-6C>A)
n.2917C>A
n.186C>A
c.1069C>A (p.Pro357Thr)
c.2344C>A (p.Pro782Thr)
c.9244C>A (p.Pro3082Thr)
n.275C>A
c.9241C>A (p.Pro3081Thr)
c.9253C>A (p.Pro3085Thr)
c.9232C>A (p.Pro3078Thr)
c.8887C>A (p.Pro2963Thr)
c.5233C>A (p.Pro1745Thr)
c.9127C>A (p.Pro3043Thr)
c.9118C>A (p.Pro3040Thr)
c.9133C>A (p.Pro3045Thr)
c.3430C>A (p.Pro1144Thr)
Xg.31260986A>CCA412652495DMDc.4101T>G (p.His1367Gln)
c.51T>G (p.His17Gln)
c.1875T>G (p.His625Gln)
n.772T>G
n.354T>G
n.773T>G
n.2747T>G
c.1110T>G (p.His370Gln)
c.9255T>G (p.His3085Gln)
c.5223T>G (p.His1741Gln)
c.31T>G
c.-7T>G (n.-7T>G)
n.2916T>G
n.185T>G
c.1068T>G (p.His356Gln)
c.2343T>G (p.His781Gln)
c.9243T>G (p.His3081Gln)
n.274T>G
c.9240T>G (p.His3080Gln)
c.9252T>G (p.His3084Gln)
c.9231T>G (p.His3077Gln)
c.8886T>G (p.His2962Gln)
c.5232T>G (p.His1744Gln)
c.9126T>G (p.His3042Gln)
c.9117T>G (p.His3039Gln)
c.9132T>G (p.His3044Gln)
c.3429T>G (p.His1143Gln)
Xg.31260986A>GCA515858539DMDc.4101T>C (p.His1367=)
c.51T>C (p.His17=)
c.1875T>C (p.His625=)
n.772T>C
n.354T>C
n.773T>C
n.2747T>C
c.1110T>C (p.His370=)
c.9255T>C (p.His3085=)
c.5223T>C (p.His1741=)
c.31T>C
c.-7T>C (n.-7T>C)
n.2916T>C
n.185T>C
c.1068T>C (p.His356=)
c.2343T>C (p.His781=)
c.9243T>C (p.His3081=)
n.274T>C
c.9240T>C (p.His3080=)
c.9252T>C (p.His3084=)
c.9231T>C (p.His3077=)
c.8886T>C (p.His2962=)
c.5232T>C (p.His1744=)
c.9126T>C (p.His3042=)
c.9117T>C (p.His3039=)
c.9132T>C (p.His3044=)
c.3429T>C (p.His1143=)
Xg.31260986A>TCA412652496DMDc.4101T>A (p.His1367Gln)
c.51T>A (p.His17Gln)
c.1875T>A (p.His625Gln)
n.772T>A
n.354T>A
n.773T>A
n.2747T>A
c.1110T>A (p.His370Gln)
c.9255T>A (p.His3085Gln)
c.5223T>A (p.His1741Gln)
c.31T>A
c.-7T>A (n.-7T>A)
n.2916T>A
n.185T>A
c.1068T>A (p.His356Gln)
c.2343T>A (p.His781Gln)
c.9243T>A (p.His3081Gln)
n.274T>A
c.9240T>A (p.His3080Gln)
c.9252T>A (p.His3084Gln)
c.9231T>A (p.His3077Gln)
c.8886T>A (p.His2962Gln)
c.5232T>A (p.His1744Gln)
c.9126T>A (p.His3042Gln)
c.9117T>A (p.His3039Gln)
c.9132T>A (p.His3044Gln)
c.3429T>A (p.His1143Gln)
Xg.31260987T>ACA412652497DMDc.4100A>T (p.His1367Leu)
c.50A>T (p.His17Leu)
c.1874A>T (p.His625Leu)
n.771A>T
n.353A>T
n.772A>T
n.2746A>T
c.1109A>T (p.His370Leu)
c.9254A>T (p.His3085Leu)
c.5222A>T (p.His1741Leu)
c.30A>T
c.-8A>T (n.-8A>T)
n.2915A>T
n.184A>T
c.1067A>T (p.His356Leu)
c.2342A>T (p.His781Leu)
c.9242A>T (p.His3081Leu)
n.273A>T
c.9239A>T (p.His3080Leu)
c.9251A>T (p.His3084Leu)
c.9230A>T (p.His3077Leu)
c.8885A>T (p.His2962Leu)
c.5231A>T (p.His1744Leu)
c.9125A>T (p.His3042Leu)
c.9116A>T (p.His3039Leu)
c.9131A>T (p.His3044Leu)
c.3428A>T (p.His1143Leu)
Xg.31260987T>CCA412652498DMDc.4100A>G (p.His1367Arg)
c.50A>G (p.His17Arg)
c.1874A>G (p.His625Arg)
n.771A>G
n.353A>G
n.772A>G
n.2746A>G
c.1109A>G (p.His370Arg)
c.9254A>G (p.His3085Arg)
c.5222A>G (p.His1741Arg)
c.30A>G
c.-8A>G (n.-8A>G)
n.2915A>G
n.184A>G
c.1067A>G (p.His356Arg)
c.2342A>G (p.His781Arg)
c.9242A>G (p.His3081Arg)
n.273A>G
c.9239A>G (p.His3080Arg)
c.9251A>G (p.His3084Arg)
c.9230A>G (p.His3077Arg)
c.8885A>G (p.His2962Arg)
c.5231A>G (p.His1744Arg)
c.9125A>G (p.His3042Arg)
c.9116A>G (p.His3039Arg)
c.9131A>G (p.His3044Arg)
c.3428A>G (p.His1143Arg)
Xg.31260987T>GCA412652499DMDc.4100A>C (p.His1367Pro)
c.50A>C (p.His17Pro)
c.1874A>C (p.His625Pro)
n.771A>C
n.353A>C
n.772A>C
n.2746A>C
c.1109A>C (p.His370Pro)
c.9254A>C (p.His3085Pro)
c.5222A>C (p.His1741Pro)
c.30A>C
c.-8A>C (n.-8A>C)
n.2915A>C
n.184A>C
c.1067A>C (p.His356Pro)
c.2342A>C (p.His781Pro)
c.9242A>C (p.His3081Pro)
n.273A>C
c.9239A>C (p.His3080Pro)
c.9251A>C (p.His3084Pro)
c.9230A>C (p.His3077Pro)
c.8885A>C (p.His2962Pro)
c.5231A>C (p.His1744Pro)
c.9125A>C (p.His3042Pro)
c.9116A>C (p.His3039Pro)
c.9131A>C (p.His3044Pro)
c.3428A>C (p.His1143Pro)
Xg.31260988G>ACA412652502DMDc.4099C>T (p.His1367Tyr)
c.49C>T (p.His17Tyr)
c.1873C>T (p.His625Tyr)
n.770C>T
n.352C>T
n.771C>T
n.2745C>T
c.1108C>T (p.His370Tyr)
c.9253C>T (p.His3085Tyr)
c.5221C>T (p.His1741Tyr)
c.29C>T
c.-9C>T (n.-9C>T)
n.2914C>T
n.183C>T
c.1066C>T (p.His356Tyr)
c.2341C>T (p.His781Tyr)
c.9241C>T (p.His3081Tyr)
n.272C>T
c.9238C>T (p.His3080Tyr)
c.9250C>T (p.His3084Tyr)
c.9229C>T (p.His3077Tyr)
c.8884C>T (p.His2962Tyr)
c.5230C>T (p.His1744Tyr)
c.9124C>T (p.His3042Tyr)
c.9115C>T (p.His3039Tyr)
c.9130C>T (p.His3044Tyr)
c.3427C>T (p.His1143Tyr)
Xg.31260988G>CCA412652500DMDc.4099C>G (p.His1367Asp)
c.49C>G (p.His17Asp)
c.1873C>G (p.His625Asp)
n.770C>G
n.352C>G
n.771C>G
n.2745C>G
c.1108C>G (p.His370Asp)
c.9253C>G (p.His3085Asp)
c.5221C>G (p.His1741Asp)
c.29C>G
c.-9C>G (n.-9C>G)
n.2914C>G
n.183C>G
c.1066C>G (p.His356Asp)
c.2341C>G (p.His781Asp)
c.9241C>G (p.His3081Asp)
n.272C>G
c.9238C>G (p.His3080Asp)
c.9250C>G (p.His3084Asp)
c.9229C>G (p.His3077Asp)
c.8884C>G (p.His2962Asp)
c.5230C>G (p.His1744Asp)
c.9124C>G (p.His3042Asp)
c.9115C>G (p.His3039Asp)
c.9130C>G (p.His3044Asp)
c.3427C>G (p.His1143Asp)
Xg.31260988G>TCA412652501DMDc.4099C>A (p.His1367Asn)
c.49C>A (p.His17Asn)
c.1873C>A (p.His625Asn)
n.770C>A
n.352C>A
n.771C>A
n.2745C>A
c.1108C>A (p.His370Asn)
c.9253C>A (p.His3085Asn)
c.5221C>A (p.His1741Asn)
c.29C>A
c.-9C>A (n.-9C>A)
n.2914C>A
n.183C>A
c.1066C>A (p.His356Asn)
c.2341C>A (p.His781Asn)
c.9241C>A (p.His3081Asn)
n.272C>A
c.9238C>A (p.His3080Asn)
c.9250C>A (p.His3084Asn)
c.9229C>A (p.His3077Asn)
c.8884C>A (p.His2962Asn)
c.5230C>A (p.His1744Asn)
c.9124C>A (p.His3042Asn)
c.9115C>A (p.His3039Asn)
c.9130C>A (p.His3044Asn)
c.3427C>A (p.His1143Asn)
Xg.31260989G>ACA515858540DMDc.4098C>T (p.Asp1366=)
c.48C>T (p.Asp16=)
c.1872C>T (p.Asp624=)
n.769C>T
n.351C>T
n.770C>T
n.2744C>T
c.1107C>T (p.Asp369=)
c.9252C>T (p.Asp3084=)
c.5220C>T (p.Asp1740=)
c.28C>T
c.-10C>T (n.-10C>T)
n.2913C>T
n.182C>T
c.1065C>T (p.Asp355=)
c.2340C>T (p.Asp780=)
c.9240C>T (p.Asp3080=)
n.271C>T
c.9237C>T (p.Asp3079=)
c.9249C>T (p.Asp3083=)
c.9228C>T (p.Asp3076=)
c.8883C>T (p.Asp2961=)
c.5229C>T (p.Asp1743=)
c.9123C>T (p.Asp3041=)
c.9114C>T (p.Asp3038=)
c.9129C>T (p.Asp3043=)
c.3426C>T (p.Asp1142=)
 gnomAD v4
Xg.31260989G>CCA412652503DMDc.4098C>G (p.Asp1366Glu)
c.48C>G (p.Asp16Glu)
c.1872C>G (p.Asp624Glu)
n.769C>G
n.351C>G
n.770C>G
n.2744C>G
c.1107C>G (p.Asp369Glu)
c.9252C>G (p.Asp3084Glu)
c.5220C>G (p.Asp1740Glu)
c.28C>G
c.-10C>G (n.-10C>G)
n.2913C>G
n.182C>G
c.1065C>G (p.Asp355Glu)
c.2340C>G (p.Asp780Glu)
c.9240C>G (p.Asp3080Glu)
n.271C>G
c.9237C>G (p.Asp3079Glu)
c.9249C>G (p.Asp3083Glu)
c.9228C>G (p.Asp3076Glu)
c.8883C>G (p.Asp2961Glu)
c.5229C>G (p.Asp1743Glu)
c.9123C>G (p.Asp3041Glu)
c.9114C>G (p.Asp3038Glu)
c.9129C>G (p.Asp3043Glu)
c.3426C>G (p.Asp1142Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31260989G=CA2422368493DMDc.4098C= (p.Asp1366=)
c.48C= (p.Asp16=)
c.1872C= (p.Asp624=)
n.769C=
n.351C=
n.770C=
n.2744C=
c.1107C= (p.Asp369=)
c.9252C= (p.Asp3084=)
c.5220C= (p.Asp1740=)
c.28C=
c.-10C= (n.-10C=)
n.2913C=
n.182C=
c.1065C= (p.Asp355=)
c.2340C= (p.Asp780=)
c.9240C= (p.Asp3080=)
n.271C=
c.9237C= (p.Asp3079=)
c.9249C= (p.Asp3083=)
c.9228C= (p.Asp3076=)
c.8883C= (p.Asp2961=)
c.5229C= (p.Asp1743=)
c.9123C= (p.Asp3041=)
c.9114C= (p.Asp3038=)
c.9129C= (p.Asp3043=)
c.3426C= (p.Asp1142=)
Xg.31260989G>TCA412652504DMDc.4098C>A (p.Asp1366Glu)
c.48C>A (p.Asp16Glu)
c.1872C>A (p.Asp624Glu)
n.769C>A
n.351C>A
n.770C>A
n.2744C>A
c.1107C>A (p.Asp369Glu)
c.9252C>A (p.Asp3084Glu)
c.5220C>A (p.Asp1740Glu)
c.28C>A
c.-10C>A (n.-10C>A)
n.2913C>A
n.182C>A
c.1065C>A (p.Asp355Glu)
c.2340C>A (p.Asp780Glu)
c.9240C>A (p.Asp3080Glu)
n.271C>A
c.9237C>A (p.Asp3079Glu)
c.9249C>A (p.Asp3083Glu)
c.9228C>A (p.Asp3076Glu)
c.8883C>A (p.Asp2961Glu)
c.5229C>A (p.Asp1743Glu)
c.9123C>A (p.Asp3041Glu)
c.9114C>A (p.Asp3038Glu)
c.9129C>A (p.Asp3043Glu)
c.3426C>A (p.Asp1142Glu)
Xg.31260990T>ACA412652505DMDc.4097A>T (p.Asp1366Val)
c.47A>T (p.Asp16Val)
c.1871A>T (p.Asp624Val)
n.768A>T
n.350A>T
n.769A>T
n.2743A>T
c.1106A>T (p.Asp369Val)
c.9251A>T (p.Asp3084Val)
c.5219A>T (p.Asp1740Val)
c.27A>T
c.-11A>T (n.-11A>T)
n.2912A>T
n.181A>T
c.1064A>T (p.Asp355Val)
c.2339A>T (p.Asp780Val)
c.9239A>T (p.Asp3080Val)
n.270A>T
c.9236A>T (p.Asp3079Val)
c.9248A>T (p.Asp3083Val)
c.9227A>T (p.Asp3076Val)
c.8882A>T (p.Asp2961Val)
c.5228A>T (p.Asp1743Val)
c.9122A>T (p.Asp3041Val)
c.9113A>T (p.Asp3038Val)
c.9128A>T (p.Asp3043Val)
c.3425A>T (p.Asp1142Val)
Xg.31260990T>CCA412652506DMDc.4097A>G (p.Asp1366Gly)
c.47A>G (p.Asp16Gly)
c.1871A>G (p.Asp624Gly)
n.768A>G
n.350A>G
n.769A>G
n.2743A>G
c.1106A>G (p.Asp369Gly)
c.9251A>G (p.Asp3084Gly)
c.5219A>G (p.Asp1740Gly)
c.27A>G
c.-11A>G (n.-11A>G)
n.2912A>G
n.181A>G
c.1064A>G (p.Asp355Gly)
c.2339A>G (p.Asp780Gly)
c.9239A>G (p.Asp3080Gly)
n.270A>G
c.9236A>G (p.Asp3079Gly)
c.9248A>G (p.Asp3083Gly)
c.9227A>G (p.Asp3076Gly)
c.8882A>G (p.Asp2961Gly)
c.5228A>G (p.Asp1743Gly)
c.9122A>G (p.Asp3041Gly)
c.9113A>G (p.Asp3038Gly)
c.9128A>G (p.Asp3043Gly)
c.3425A>G (p.Asp1142Gly)
Xg.31260990T>GCA412652507DMDc.4097A>C (p.Asp1366Ala)
c.47A>C (p.Asp16Ala)
c.1871A>C (p.Asp624Ala)
n.768A>C
n.350A>C
n.769A>C
n.2743A>C
c.1106A>C (p.Asp369Ala)
c.9251A>C (p.Asp3084Ala)
c.5219A>C (p.Asp1740Ala)
c.27A>C
c.-11A>C (n.-11A>C)
n.2912A>C
n.181A>C
c.1064A>C (p.Asp355Ala)
c.2339A>C (p.Asp780Ala)
c.9239A>C (p.Asp3080Ala)
n.270A>C
c.9236A>C (p.Asp3079Ala)
c.9248A>C (p.Asp3083Ala)
c.9227A>C (p.Asp3076Ala)
c.8882A>C (p.Asp2961Ala)
c.5228A>C (p.Asp1743Ala)
c.9122A>C (p.Asp3041Ala)
c.9113A>C (p.Asp3038Ala)
c.9128A>C (p.Asp3043Ala)
c.3425A>C (p.Asp1142Ala)
Xg.31260991C>ACA412652508DMDc.4096G>T (p.Asp1366Tyr)
c.46G>T (p.Asp16Tyr)
c.1870G>T (p.Asp624Tyr)
n.767G>T
n.349G>T
n.768G>T
n.2742G>T
c.1105G>T (p.Asp369Tyr)
c.9250G>T (p.Asp3084Tyr)
c.5218G>T (p.Asp1740Tyr)
c.26G>T
c.-12G>T (n.-12G>T)
n.2911G>T
n.180G>T
c.1063G>T (p.Asp355Tyr)
c.2338G>T (p.Asp780Tyr)
c.9238G>T (p.Asp3080Tyr)
n.269G>T
c.9235G>T (p.Asp3079Tyr)
c.9247G>T (p.Asp3083Tyr)
c.9226G>T (p.Asp3076Tyr)
c.8881G>T (p.Asp2961Tyr)
c.5227G>T (p.Asp1743Tyr)
c.9121G>T (p.Asp3041Tyr)
c.9112G>T (p.Asp3038Tyr)
c.9127G>T (p.Asp3043Tyr)
c.3424G>T (p.Asp1142Tyr)
Xg.31260991C>GCA412652510DMDc.4096G>C (p.Asp1366His)
c.46G>C (p.Asp16His)
c.1870G>C (p.Asp624His)
n.767G>C
n.349G>C
n.768G>C
n.2742G>C
c.1105G>C (p.Asp369His)
c.9250G>C (p.Asp3084His)
c.5218G>C (p.Asp1740His)
c.26G>C
c.-12G>C (n.-12G>C)
n.2911G>C
n.180G>C
c.1063G>C (p.Asp355His)
c.2338G>C (p.Asp780His)
c.9238G>C (p.Asp3080His)
n.269G>C
c.9235G>C (p.Asp3079His)
c.9247G>C (p.Asp3083His)
c.9226G>C (p.Asp3076His)
c.8881G>C (p.Asp2961His)
c.5227G>C (p.Asp1743His)
c.9121G>C (p.Asp3041His)
c.9112G>C (p.Asp3038His)
c.9127G>C (p.Asp3043His)
c.3424G>C (p.Asp1142His)
 gnomAD v4
Xg.31260991C>TCA412652509DMDc.4096G>A (p.Asp1366Asn)
c.46G>A (p.Asp16Asn)
c.1870G>A (p.Asp624Asn)
n.767G>A
n.349G>A
n.768G>A
n.2742G>A
c.1105G>A (p.Asp369Asn)
c.9250G>A (p.Asp3084Asn)
c.5218G>A (p.Asp1740Asn)
c.26G>A
c.-12G>A (n.-12G>A)
n.2911G>A
n.180G>A
c.1063G>A (p.Asp355Asn)
c.2338G>A (p.Asp780Asn)
c.9238G>A (p.Asp3080Asn)
n.269G>A
c.9235G>A (p.Asp3079Asn)
c.9247G>A (p.Asp3083Asn)
c.9226G>A (p.Asp3076Asn)
c.8881G>A (p.Asp2961Asn)
c.5227G>A (p.Asp1743Asn)
c.9121G>A (p.Asp3041Asn)
c.9112G>A (p.Asp3038Asn)
c.9127G>A (p.Asp3043Asn)
c.3424G>A (p.Asp1142Asn)
Xg.31260991_31260992delinsGTCA2739268161DMDc.4095_4096delinsAC (p.Trp1365Ter)
c.45_46delinsAC (p.Trp15Ter)
c.1869_1870delinsAC (p.Trp623Ter)
n.766_767delinsAC
n.348_349delinsAC
n.767_768delinsAC
n.2741_2742delinsAC
c.1104_1105delinsAC (p.Trp368Ter)
c.9249_9250delinsAC (p.Trp3083Ter)
c.5217_5218delinsAC (p.Trp1739Ter)
c.25_26delinsAC
c.-13_-12delinsAC (n.-13_-12delinsAC)
n.2910_2911delinsAC
n.179_180delinsAC
c.1062_1063delinsAC (p.Trp354Ter)
c.2337_2338delinsAC (p.Trp779Ter)
c.9237_9238delinsAC (p.Trp3079Ter)
n.268_269delinsAC
c.9234_9235delinsAC (p.Trp3078Ter)
c.9246_9247delinsAC (p.Trp3082Ter)
c.9225_9226delinsAC (p.Trp3075Ter)
c.8880_8881delinsAC (p.Trp2960Ter)
c.5226_5227delinsAC (p.Trp1742Ter)
c.9120_9121delinsAC (p.Trp3040Ter)
c.9111_9112delinsAC (p.Trp3037Ter)
c.9126_9127delinsAC (p.Trp3042Ter)
c.3423_3424delinsAC (p.Trp1141Ter)
 ClinVar
Xg.31260992C>ACA412652511DMDc.4095G>T (p.Trp1365Cys)
c.45G>T (p.Trp15Cys)
c.1869G>T (p.Trp623Cys)
n.766G>T
n.348G>T
n.767G>T
n.2741G>T
c.1104G>T (p.Trp368Cys)
c.9249G>T (p.Trp3083Cys)
c.5217G>T (p.Trp1739Cys)
c.25G>T
c.-13G>T (n.-13G>T)
n.2910G>T
n.179G>T
c.1062G>T (p.Trp354Cys)
c.2337G>T (p.Trp779Cys)
c.9237G>T (p.Trp3079Cys)
n.268G>T
c.9234G>T (p.Trp3078Cys)
c.9246G>T (p.Trp3082Cys)
c.9225G>T (p.Trp3075Cys)
c.8880G>T (p.Trp2960Cys)
c.5226G>T (p.Trp1742Cys)
c.9120G>T (p.Trp3040Cys)
c.9111G>T (p.Trp3037Cys)
c.9126G>T (p.Trp3042Cys)
c.3423G>T (p.Trp1141Cys)
Xg.31260992C>GCA412652512DMDc.4095G>C (p.Trp1365Cys)
c.45G>C (p.Trp15Cys)
c.1869G>C (p.Trp623Cys)
n.766G>C
n.348G>C
n.767G>C
n.2741G>C
c.1104G>C (p.Trp368Cys)
c.9249G>C (p.Trp3083Cys)
c.5217G>C (p.Trp1739Cys)
c.25G>C
c.-13G>C (n.-13G>C)
n.2910G>C
n.179G>C
c.1062G>C (p.Trp354Cys)
c.2337G>C (p.Trp779Cys)
c.9237G>C (p.Trp3079Cys)
n.268G>C
c.9234G>C (p.Trp3078Cys)
c.9246G>C (p.Trp3082Cys)
c.9225G>C (p.Trp3075Cys)
c.8880G>C (p.Trp2960Cys)
c.5226G>C (p.Trp1742Cys)
c.9120G>C (p.Trp3040Cys)
c.9111G>C (p.Trp3037Cys)
c.9126G>C (p.Trp3042Cys)
c.3423G>C (p.Trp1141Cys)
Xg.31260992C>TCA412652513DMDc.4095G>A (p.Trp1365Ter)
c.45G>A (p.Trp15Ter)
c.1869G>A (p.Trp623Ter)
n.766G>A
n.348G>A
n.767G>A
n.2741G>A
c.1104G>A (p.Trp368Ter)
c.9249G>A (p.Trp3083Ter)
c.5217G>A (p.Trp1739Ter)
c.25G>A
c.-13G>A (n.-13G>A)
n.2910G>A
n.179G>A
c.1062G>A (p.Trp354Ter)
c.2337G>A (p.Trp779Ter)
c.9237G>A (p.Trp3079Ter)
n.268G>A
c.9234G>A (p.Trp3078Ter)
c.9246G>A (p.Trp3082Ter)
c.9225G>A (p.Trp3075Ter)
c.8880G>A (p.Trp2960Ter)
c.5226G>A (p.Trp1742Ter)
c.9120G>A (p.Trp3040Ter)
c.9111G>A (p.Trp3037Ter)
c.9126G>A (p.Trp3042Ter)
c.3423G>A (p.Trp1141Ter)
 ClinVar dbSNP gnomAD v3
Xg.31260993C>ACA412652514DMDc.4094G>T (p.Trp1365Leu)
c.44G>T (p.Trp15Leu)
c.1868G>T (p.Trp623Leu)
n.765G>T
n.347G>T
n.766G>T
n.2740G>T
c.1103G>T (p.Trp368Leu)
c.9248G>T (p.Trp3083Leu)
c.5216G>T (p.Trp1739Leu)
c.24G>T
c.-14G>T (n.-14G>T)
n.2909G>T
n.178G>T
c.1061G>T (p.Trp354Leu)
c.2336G>T (p.Trp779Leu)
c.9236G>T (p.Trp3079Leu)
n.267G>T
c.9233G>T (p.Trp3078Leu)
c.9245G>T (p.Trp3082Leu)
c.9224G>T (p.Trp3075Leu)
c.8879G>T (p.Trp2960Leu)
c.5225G>T (p.Trp1742Leu)
c.9119G>T (p.Trp3040Leu)
c.9110G>T (p.Trp3037Leu)
c.9125G>T (p.Trp3042Leu)
c.3422G>T (p.Trp1141Leu)
Xg.31260993C>GCA412652515DMDc.4094G>C (p.Trp1365Ser)
c.44G>C (p.Trp15Ser)
c.1868G>C (p.Trp623Ser)
n.765G>C
n.347G>C
n.766G>C
n.2740G>C
c.1103G>C (p.Trp368Ser)
c.9248G>C (p.Trp3083Ser)
c.5216G>C (p.Trp1739Ser)
c.24G>C
c.-14G>C (n.-14G>C)
n.2909G>C
n.178G>C
c.1061G>C (p.Trp354Ser)
c.2336G>C (p.Trp779Ser)
c.9236G>C (p.Trp3079Ser)
n.267G>C
c.9233G>C (p.Trp3078Ser)
c.9245G>C (p.Trp3082Ser)
c.9224G>C (p.Trp3075Ser)
c.8879G>C (p.Trp2960Ser)
c.5225G>C (p.Trp1742Ser)
c.9119G>C (p.Trp3040Ser)
c.9110G>C (p.Trp3037Ser)
c.9125G>C (p.Trp3042Ser)
c.3422G>C (p.Trp1141Ser)
Xg.31260993C>TCA412652516DMDc.4094G>A (p.Trp1365Ter)
c.44G>A (p.Trp15Ter)
c.1868G>A (p.Trp623Ter)
n.765G>A
n.347G>A
n.766G>A
n.2740G>A
c.1103G>A (p.Trp368Ter)
c.9248G>A (p.Trp3083Ter)
c.5216G>A (p.Trp1739Ter)
c.24G>A
c.-14G>A (n.-14G>A)
n.2909G>A
n.178G>A
c.1061G>A (p.Trp354Ter)
c.2336G>A (p.Trp779Ter)
c.9236G>A (p.Trp3079Ter)
n.267G>A
c.9233G>A (p.Trp3078Ter)
c.9245G>A (p.Trp3082Ter)
c.9224G>A (p.Trp3075Ter)
c.8879G>A (p.Trp2960Ter)
c.5225G>A (p.Trp1742Ter)
c.9119G>A (p.Trp3040Ter)
c.9110G>A (p.Trp3037Ter)
c.9125G>A (p.Trp3042Ter)
c.3422G>A (p.Trp1141Ter)
 dbSNP
Xg.31260994A>CCA412652517DMDc.4093T>G (p.Trp1365Gly)
c.43T>G (p.Trp15Gly)
c.1867T>G (p.Trp623Gly)
n.764T>G
n.346T>G
n.765T>G
n.2739T>G
c.1102T>G (p.Trp368Gly)
c.9247T>G (p.Trp3083Gly)
c.5215T>G (p.Trp1739Gly)
c.23T>G
c.-15T>G (n.-15T>G)
n.2908T>G
n.177T>G
c.1060T>G (p.Trp354Gly)
c.2335T>G (p.Trp779Gly)
c.9235T>G (p.Trp3079Gly)
n.266T>G
c.9232T>G (p.Trp3078Gly)
c.9244T>G (p.Trp3082Gly)
c.9223T>G (p.Trp3075Gly)
c.8878T>G (p.Trp2960Gly)
c.5224T>G (p.Trp1742Gly)
c.9118T>G (p.Trp3040Gly)
c.9109T>G (p.Trp3037Gly)
c.9124T>G (p.Trp3042Gly)
c.3421T>G (p.Trp1141Gly)
Xg.31260994A>GCA412652518DMDc.4093T>C (p.Trp1365Arg)
c.43T>C (p.Trp15Arg)
c.1867T>C (p.Trp623Arg)
n.764T>C
n.346T>C
n.765T>C
n.2739T>C
c.1102T>C (p.Trp368Arg)
c.9247T>C (p.Trp3083Arg)
c.5215T>C (p.Trp1739Arg)
c.23T>C
c.-15T>C (n.-15T>C)
n.2908T>C
n.177T>C
c.1060T>C (p.Trp354Arg)
c.2335T>C (p.Trp779Arg)
c.9235T>C (p.Trp3079Arg)
n.266T>C
c.9232T>C (p.Trp3078Arg)
c.9244T>C (p.Trp3082Arg)
c.9223T>C (p.Trp3075Arg)
c.8878T>C (p.Trp2960Arg)
c.5224T>C (p.Trp1742Arg)
c.9118T>C (p.Trp3040Arg)
c.9109T>C (p.Trp3037Arg)
c.9124T>C (p.Trp3042Arg)
c.3421T>C (p.Trp1141Arg)
Xg.31260994A>TCA412652519DMDc.4093T>A (p.Trp1365Arg)
c.43T>A (p.Trp15Arg)
c.1867T>A (p.Trp623Arg)
n.764T>A
n.346T>A
n.765T>A
n.2739T>A
c.1102T>A (p.Trp368Arg)
c.9247T>A (p.Trp3083Arg)
c.5215T>A (p.Trp1739Arg)
c.23T>A
c.-15T>A (n.-15T>A)
n.2908T>A
n.177T>A
c.1060T>A (p.Trp354Arg)
c.2335T>A (p.Trp779Arg)
c.9235T>A (p.Trp3079Arg)
n.266T>A
c.9232T>A (p.Trp3078Arg)
c.9244T>A (p.Trp3082Arg)
c.9223T>A (p.Trp3075Arg)
c.8878T>A (p.Trp2960Arg)
c.5224T>A (p.Trp1742Arg)
c.9118T>A (p.Trp3040Arg)
c.9109T>A (p.Trp3037Arg)
c.9124T>A (p.Trp3042Arg)
c.3421T>A (p.Trp1141Arg)
Xg.31260995G>ACA515858541DMDc.4092C>T (p.Cys1364=)
c.42C>T (p.Cys14=)
c.1866C>T (p.Cys622=)
n.763C>T
n.345C>T
n.764C>T
n.2738C>T
c.1101C>T (p.Cys367=)
c.9246C>T (p.Cys3082=)
c.5214C>T (p.Cys1738=)
c.22C>T
c.-16C>T (n.-16C>T)
n.2907C>T
n.176C>T
c.1059C>T (p.Cys353=)
c.2334C>T (p.Cys778=)
c.9234C>T (p.Cys3078=)
n.265C>T
c.9231C>T (p.Cys3077=)
c.9243C>T (p.Cys3081=)
c.9222C>T (p.Cys3074=)
c.8877C>T (p.Cys2959=)
c.5223C>T (p.Cys1741=)
c.9117C>T (p.Cys3039=)
c.9108C>T (p.Cys3036=)
c.9123C>T (p.Cys3041=)
c.3420C>T (p.Cys1140=)
Xg.31260995G>CCA412652520DMDc.4092C>G (p.Cys1364Trp)
c.42C>G (p.Cys14Trp)
c.1866C>G (p.Cys622Trp)
n.763C>G
n.345C>G
n.764C>G
n.2738C>G
c.1101C>G (p.Cys367Trp)
c.9246C>G (p.Cys3082Trp)
c.5214C>G (p.Cys1738Trp)
c.22C>G
c.-16C>G (n.-16C>G)
n.2907C>G
n.176C>G
c.1059C>G (p.Cys353Trp)
c.2334C>G (p.Cys778Trp)
c.9234C>G (p.Cys3078Trp)
n.265C>G
c.9231C>G (p.Cys3077Trp)
c.9243C>G (p.Cys3081Trp)
c.9222C>G (p.Cys3074Trp)
c.8877C>G (p.Cys2959Trp)
c.5223C>G (p.Cys1741Trp)
c.9117C>G (p.Cys3039Trp)
c.9108C>G (p.Cys3036Trp)
c.9123C>G (p.Cys3041Trp)
c.3420C>G (p.Cys1140Trp)
Xg.31260995G>TCA412652521DMDc.4092C>A (p.Cys1364Ter)
c.42C>A (p.Cys14Ter)
c.1866C>A (p.Cys622Ter)
n.763C>A
n.345C>A
n.764C>A
n.2738C>A
c.1101C>A (p.Cys367Ter)
c.9246C>A (p.Cys3082Ter)
c.5214C>A (p.Cys1738Ter)
c.22C>A
c.-16C>A (n.-16C>A)
n.2907C>A
n.176C>A
c.1059C>A (p.Cys353Ter)
c.2334C>A (p.Cys778Ter)
c.9234C>A (p.Cys3078Ter)
n.265C>A
c.9231C>A (p.Cys3077Ter)
c.9243C>A (p.Cys3081Ter)
c.9222C>A (p.Cys3074Ter)
c.8877C>A (p.Cys2959Ter)
c.5223C>A (p.Cys1741Ter)
c.9117C>A (p.Cys3039Ter)
c.9108C>A (p.Cys3036Ter)
c.9123C>A (p.Cys3041Ter)
c.3420C>A (p.Cys1140Ter)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31260996C>ACA412652523DMDc.4091G>T (p.Cys1364Phe)
c.41G>T (p.Cys14Phe)
c.1865G>T (p.Cys622Phe)
n.762G>T
n.344G>T
n.763G>T
n.2737G>T
c.1100G>T (p.Cys367Phe)
c.9245G>T (p.Cys3082Phe)
c.5213G>T (p.Cys1738Phe)
c.21G>T
c.-17G>T (n.-17G>T)
n.2906G>T
n.175G>T
c.1058G>T (p.Cys353Phe)
c.2333G>T (p.Cys778Phe)
c.9233G>T (p.Cys3078Phe)
n.264G>T
c.9230G>T (p.Cys3077Phe)
c.9242G>T (p.Cys3081Phe)
c.9221G>T (p.Cys3074Phe)
c.8876G>T (p.Cys2959Phe)
c.5222G>T (p.Cys1741Phe)
c.9116G>T (p.Cys3039Phe)
c.9107G>T (p.Cys3036Phe)
c.9122G>T (p.Cys3041Phe)
c.3419G>T (p.Cys1140Phe)
Xg.31260996C>GCA412652524DMDc.4091G>C (p.Cys1364Ser)
c.41G>C (p.Cys14Ser)
c.1865G>C (p.Cys622Ser)
n.762G>C
n.344G>C
n.763G>C
n.2737G>C
c.1100G>C (p.Cys367Ser)
c.9245G>C (p.Cys3082Ser)
c.5213G>C (p.Cys1738Ser)
c.21G>C
c.-17G>C (n.-17G>C)
n.2906G>C
n.175G>C
c.1058G>C (p.Cys353Ser)
c.2333G>C (p.Cys778Ser)
c.9233G>C (p.Cys3078Ser)
n.264G>C
c.9230G>C (p.Cys3077Ser)
c.9242G>C (p.Cys3081Ser)
c.9221G>C (p.Cys3074Ser)
c.8876G>C (p.Cys2959Ser)
c.5222G>C (p.Cys1741Ser)
c.9116G>C (p.Cys3039Ser)
c.9107G>C (p.Cys3036Ser)
c.9122G>C (p.Cys3041Ser)
c.3419G>C (p.Cys1140Ser)
Xg.31260996C>TCA412652522DMDc.4091G>A (p.Cys1364Tyr)
c.41G>A (p.Cys14Tyr)
c.1865G>A (p.Cys622Tyr)
n.762G>A
n.344G>A
n.763G>A
n.2737G>A
c.1100G>A (p.Cys367Tyr)
c.9245G>A (p.Cys3082Tyr)
c.5213G>A (p.Cys1738Tyr)
c.21G>A
c.-17G>A (n.-17G>A)
n.2906G>A
n.175G>A
c.1058G>A (p.Cys353Tyr)
c.2333G>A (p.Cys778Tyr)
c.9233G>A (p.Cys3078Tyr)
n.264G>A
c.9230G>A (p.Cys3077Tyr)
c.9242G>A (p.Cys3081Tyr)
c.9221G>A (p.Cys3074Tyr)
c.8876G>A (p.Cys2959Tyr)
c.5222G>A (p.Cys1741Tyr)
c.9116G>A (p.Cys3039Tyr)
c.9107G>A (p.Cys3036Tyr)
c.9122G>A (p.Cys3041Tyr)
c.3419G>A (p.Cys1140Tyr)
 gnomAD v4
Xg.31260997A>CCA412652527DMDc.4090T>G (p.Cys1364Gly)
c.40T>G (p.Cys14Gly)
c.1864T>G (p.Cys622Gly)
n.761T>G
n.343T>G
n.762T>G
n.2736T>G
c.1099T>G (p.Cys367Gly)
c.9244T>G (p.Cys3082Gly)
c.5212T>G (p.Cys1738Gly)
c.20T>G
c.-18T>G (n.-18T>G)
n.2905T>G
n.174T>G
c.1057T>G (p.Cys353Gly)
c.2332T>G (p.Cys778Gly)
c.9232T>G (p.Cys3078Gly)
n.263T>G
c.9229T>G (p.Cys3077Gly)
c.9241T>G (p.Cys3081Gly)
c.9220T>G (p.Cys3074Gly)
c.8875T>G (p.Cys2959Gly)
c.5221T>G (p.Cys1741Gly)
c.9115T>G (p.Cys3039Gly)
c.9106T>G (p.Cys3036Gly)
c.9121T>G (p.Cys3041Gly)
c.3418T>G (p.Cys1140Gly)
Xg.31260997A>GCA412652525DMDc.4090T>C (p.Cys1364Arg)
c.40T>C (p.Cys14Arg)
c.1864T>C (p.Cys622Arg)
n.761T>C
n.343T>C
n.762T>C
n.2736T>C
c.1099T>C (p.Cys367Arg)
c.9244T>C (p.Cys3082Arg)
c.5212T>C (p.Cys1738Arg)
c.20T>C
c.-18T>C (n.-18T>C)
n.2905T>C
n.174T>C
c.1057T>C (p.Cys353Arg)
c.2332T>C (p.Cys778Arg)
c.9232T>C (p.Cys3078Arg)
n.263T>C
c.9229T>C (p.Cys3077Arg)
c.9241T>C (p.Cys3081Arg)
c.9220T>C (p.Cys3074Arg)
c.8875T>C (p.Cys2959Arg)
c.5221T>C (p.Cys1741Arg)
c.9115T>C (p.Cys3039Arg)
c.9106T>C (p.Cys3036Arg)
c.9121T>C (p.Cys3041Arg)
c.3418T>C (p.Cys1140Arg)
Xg.31260997A>TCA412652526DMDc.4090T>A (p.Cys1364Ser)
c.40T>A (p.Cys14Ser)
c.1864T>A (p.Cys622Ser)
n.761T>A
n.343T>A
n.762T>A
n.2736T>A
c.1099T>A (p.Cys367Ser)
c.9244T>A (p.Cys3082Ser)
c.5212T>A (p.Cys1738Ser)
c.20T>A
c.-18T>A (n.-18T>A)
n.2905T>A
n.174T>A
c.1057T>A (p.Cys353Ser)
c.2332T>A (p.Cys778Ser)
c.9232T>A (p.Cys3078Ser)
n.263T>A
c.9229T>A (p.Cys3077Ser)
c.9241T>A (p.Cys3081Ser)
c.9220T>A (p.Cys3074Ser)
c.8875T>A (p.Cys2959Ser)
c.5221T>A (p.Cys1741Ser)
c.9115T>A (p.Cys3039Ser)
c.9106T>A (p.Cys3036Ser)
c.9121T>A (p.Cys3041Ser)
c.3418T>A (p.Cys1140Ser)
Xg.31260998A>CCA515858542DMDc.4089T>G (p.Thr1363=)
c.39T>G (p.Thr13=)
c.1863T>G (p.Thr621=)
n.760T>G
n.342T>G
n.761T>G
n.2735T>G
c.1098T>G (p.Thr366=)
c.9243T>G (p.Thr3081=)
c.5211T>G (p.Thr1737=)
c.19T>G
c.-19T>G (n.-19T>G)
n.2904T>G
n.173T>G
c.1056T>G (p.Thr352=)
c.2331T>G (p.Thr777=)
c.9231T>G (p.Thr3077=)
n.262T>G
c.9228T>G (p.Thr3076=)
c.9240T>G (p.Thr3080=)
c.9219T>G (p.Thr3073=)
c.8874T>G (p.Thr2958=)
c.5220T>G (p.Thr1740=)
c.9114T>G (p.Thr3038=)
c.9105T>G (p.Thr3035=)
c.9120T>G (p.Thr3040=)
c.3417T>G (p.Thr1139=)
Xg.31260998A>GCA515858543DMDc.4089T>C (p.Thr1363=)
c.39T>C (p.Thr13=)
c.1863T>C (p.Thr621=)
n.760T>C
n.342T>C
n.761T>C
n.2735T>C
c.1098T>C (p.Thr366=)
c.9243T>C (p.Thr3081=)
c.5211T>C (p.Thr1737=)
c.19T>C
c.-19T>C (n.-19T>C)
n.2904T>C
n.173T>C
c.1056T>C (p.Thr352=)
c.2331T>C (p.Thr777=)
c.9231T>C (p.Thr3077=)
n.262T>C
c.9228T>C (p.Thr3076=)
c.9240T>C (p.Thr3080=)
c.9219T>C (p.Thr3073=)
c.8874T>C (p.Thr2958=)
c.5220T>C (p.Thr1740=)
c.9114T>C (p.Thr3038=)
c.9105T>C (p.Thr3035=)
c.9120T>C (p.Thr3040=)
c.3417T>C (p.Thr1139=)
Xg.31260998A>TCA515858544DMDc.4089T>A (p.Thr1363=)
c.39T>A (p.Thr13=)
c.1863T>A (p.Thr621=)
n.760T>A
n.342T>A
n.761T>A
n.2735T>A
c.1098T>A (p.Thr366=)
c.9243T>A (p.Thr3081=)
c.5211T>A (p.Thr1737=)
c.19T>A
c.-19T>A (n.-19T>A)
n.2904T>A
n.173T>A
c.1056T>A (p.Thr352=)
c.2331T>A (p.Thr777=)
c.9231T>A (p.Thr3077=)
n.262T>A
c.9228T>A (p.Thr3076=)
c.9240T>A (p.Thr3080=)
c.9219T>A (p.Thr3073=)
c.8874T>A (p.Thr2958=)
c.5220T>A (p.Thr1740=)
c.9114T>A (p.Thr3038=)
c.9105T>A (p.Thr3035=)
c.9120T>A (p.Thr3040=)
c.3417T>A (p.Thr1139=)
Xg.31260999G>ACA412652528DMDc.4088C>T (p.Thr1363Ile)
c.38C>T (p.Thr13Ile)
c.1862C>T (p.Thr621Ile)
n.759C>T
n.341C>T
n.760C>T
n.2734C>T
c.1097C>T (p.Thr366Ile)
c.9242C>T (p.Thr3081Ile)
c.5210C>T (p.Thr1737Ile)
c.18C>T
c.-20C>T (n.-20C>T)
n.2903C>T
n.172C>T
c.1055C>T (p.Thr352Ile)
c.2330C>T (p.Thr777Ile)
c.9230C>T (p.Thr3077Ile)
n.261C>T
c.9227C>T (p.Thr3076Ile)
c.9239C>T (p.Thr3080Ile)
c.9218C>T (p.Thr3073Ile)
c.8873C>T (p.Thr2958Ile)
c.5219C>T (p.Thr1740Ile)
c.9113C>T (p.Thr3038Ile)
c.9104C>T (p.Thr3035Ile)
c.9119C>T (p.Thr3040Ile)
c.3416C>T (p.Thr1139Ile)
Xg.31260999G>CCA412652529DMDc.4088C>G (p.Thr1363Ser)
c.38C>G (p.Thr13Ser)
c.1862C>G (p.Thr621Ser)
n.759C>G
n.341C>G
n.760C>G
n.2734C>G
c.1097C>G (p.Thr366Ser)
c.9242C>G (p.Thr3081Ser)
c.5210C>G (p.Thr1737Ser)
c.18C>G
c.-20C>G (n.-20C>G)
n.2903C>G
n.172C>G
c.1055C>G (p.Thr352Ser)
c.2330C>G (p.Thr777Ser)
c.9230C>G (p.Thr3077Ser)
n.261C>G
c.9227C>G (p.Thr3076Ser)
c.9239C>G (p.Thr3080Ser)
c.9218C>G (p.Thr3073Ser)
c.8873C>G (p.Thr2958Ser)
c.5219C>G (p.Thr1740Ser)
c.9113C>G (p.Thr3038Ser)
c.9104C>G (p.Thr3035Ser)
c.9119C>G (p.Thr3040Ser)
c.3416C>G (p.Thr1139Ser)
Xg.31260999G>TCA412652530DMDc.4088C>A (p.Thr1363Asn)
c.38C>A (p.Thr13Asn)
c.1862C>A (p.Thr621Asn)
n.759C>A
n.341C>A
n.760C>A
n.2734C>A
c.1097C>A (p.Thr366Asn)
c.9242C>A (p.Thr3081Asn)
c.5210C>A (p.Thr1737Asn)
c.18C>A
c.-20C>A (n.-20C>A)
n.2903C>A
n.172C>A
c.1055C>A (p.Thr352Asn)
c.2330C>A (p.Thr777Asn)
c.9230C>A (p.Thr3077Asn)
n.261C>A
c.9227C>A (p.Thr3076Asn)
c.9239C>A (p.Thr3080Asn)
c.9218C>A (p.Thr3073Asn)
c.8873C>A (p.Thr2958Asn)
c.5219C>A (p.Thr1740Asn)
c.9113C>A (p.Thr3038Asn)
c.9104C>A (p.Thr3035Asn)
c.9119C>A (p.Thr3040Asn)
c.3416C>A (p.Thr1139Asn)
Xg.31260999_31261003delinsGTTGTCA2422368494DMDc.4084_4088delinsACAAC (p.Thr1362=)
c.34_38delinsACAAC (p.Thr12=)
c.1858_1862delinsACAAC (p.Thr620=)
n.755_759delinsACAAC
n.337_341delinsACAAC
n.756_760delinsACAAC
n.2730_2734delinsACAAC
c.1093_1097delinsACAAC (p.Thr365=)
c.9238_9242delinsACAAC (p.Thr3080=)
c.5206_5210delinsACAAC (p.Thr1736=)
c.14_18delinsACAAC
c.-24_-20delinsACAAC (n.-24_-20delinsACAAC)
n.2899_2903delinsACAAC
n.168_172delinsACAAC
c.1051_1055delinsACAAC (p.Thr351=)
c.2326_2330delinsACAAC (p.Thr776=)
c.9226_9230delinsACAAC (p.Thr3076=)
n.257_261delinsACAAC
c.9223_9227delinsACAAC (p.Thr3075=)
c.9235_9239delinsACAAC (p.Thr3079=)
c.9214_9218delinsACAAC (p.Thr3072=)
c.8869_8873delinsACAAC (p.Thr2957=)
c.5215_5219delinsACAAC (p.Thr1739=)
c.9109_9113delinsACAAC (p.Thr3037=)
c.9100_9104delinsACAAC (p.Thr3034=)
c.9115_9119delinsACAAC (p.Thr3039=)
c.3412_3416delinsACAAC (p.Thr1138=)
Xg.31261000T>ACA412652531DMDc.4087A>T (p.Thr1363Ser)
c.37A>T (p.Thr13Ser)
c.1861A>T (p.Thr621Ser)
n.758A>T
n.340A>T
n.759A>T
n.2733A>T
c.1096A>T (p.Thr366Ser)
c.9241A>T (p.Thr3081Ser)
c.5209A>T (p.Thr1737Ser)
c.17A>T
c.-21A>T (n.-21A>T)
n.2902A>T
n.171A>T
c.1054A>T (p.Thr352Ser)
c.2329A>T (p.Thr777Ser)
c.9229A>T (p.Thr3077Ser)
n.260A>T
c.9226A>T (p.Thr3076Ser)
c.9238A>T (p.Thr3080Ser)
c.9217A>T (p.Thr3073Ser)
c.8872A>T (p.Thr2958Ser)
c.5218A>T (p.Thr1740Ser)
c.9112A>T (p.Thr3038Ser)
c.9103A>T (p.Thr3035Ser)
c.9118A>T (p.Thr3040Ser)
c.3415A>T (p.Thr1139Ser)
Xg.31261000T>CCA412652532DMDc.4087A>G (p.Thr1363Ala)
c.37A>G (p.Thr13Ala)
c.1861A>G (p.Thr621Ala)
n.758A>G
n.340A>G
n.759A>G
n.2733A>G
c.1096A>G (p.Thr366Ala)
c.9241A>G (p.Thr3081Ala)
c.5209A>G (p.Thr1737Ala)
c.17A>G
c.-21A>G (n.-21A>G)
n.2902A>G
n.171A>G
c.1054A>G (p.Thr352Ala)
c.2329A>G (p.Thr777Ala)
c.9229A>G (p.Thr3077Ala)
n.260A>G
c.9226A>G (p.Thr3076Ala)
c.9238A>G (p.Thr3080Ala)
c.9217A>G (p.Thr3073Ala)
c.8872A>G (p.Thr2958Ala)
c.5218A>G (p.Thr1740Ala)
c.9112A>G (p.Thr3038Ala)
c.9103A>G (p.Thr3035Ala)
c.9118A>G (p.Thr3040Ala)
c.3415A>G (p.Thr1139Ala)
Xg.31261000T>GCA412652533DMDc.4087A>C (p.Thr1363Pro)
c.37A>C (p.Thr13Pro)
c.1861A>C (p.Thr621Pro)
n.758A>C
n.340A>C
n.759A>C
n.2733A>C
c.1096A>C (p.Thr366Pro)
c.9241A>C (p.Thr3081Pro)
c.5209A>C (p.Thr1737Pro)
c.17A>C
c.-21A>C (n.-21A>C)
n.2902A>C
n.171A>C
c.1054A>C (p.Thr352Pro)
c.2329A>C (p.Thr777Pro)
c.9229A>C (p.Thr3077Pro)
n.260A>C
c.9226A>C (p.Thr3076Pro)
c.9238A>C (p.Thr3080Pro)
c.9217A>C (p.Thr3073Pro)
c.8872A>C (p.Thr2958Pro)
c.5218A>C (p.Thr1740Pro)
c.9112A>C (p.Thr3038Pro)
c.9103A>C (p.Thr3035Pro)
c.9118A>C (p.Thr3040Pro)
c.3415A>C (p.Thr1139Pro)
Xg.31261003_31261006delCA16616482DMDc.4084_4087del (p.Thr1362LeufsTer8)
c.34_37del (p.Thr12LeufsTer8)
c.1858_1861del (p.Thr620LeufsTer8)
n.755_758del
n.337_340del
n.756_759del
n.2730_2733del
c.1093_1096del (p.Thr365LeufsTer8)
c.9238_9241del (p.Thr3080LeufsTer8)
c.5206_5209del (p.Thr1736LeufsTer8)
c.14_17del
c.-24_-21del (n.-24_-21del)
n.2899_2902del
n.168_171del
c.1051_1054del (p.Thr351LeufsTer8)
c.2326_2329del (p.Thr776LeufsTer8)
c.9226_9229del (p.Thr3076LeufsTer8)
n.257_260del
c.9223_9226del (p.Thr3075LeufsTer8)
c.9235_9238del (p.Thr3079LeufsTer8)
c.9214_9217del (p.Thr3072LeufsTer8)
c.8869_8872del (p.Thr2957LeufsTer8)
c.5215_5218del (p.Thr1739LeufsTer8)
c.9109_9112del (p.Thr3037LeufsTer8)
c.9100_9103del (p.Thr3034LeufsTer8)
c.9115_9118del (p.Thr3039LeufsTer8)
c.3412_3415del (p.Thr1138LeufsTer8)
 ClinVar dbSNP
Xg.31261001T>ACA515858545DMDc.4086A>T (p.Thr1362=)
c.36A>T (p.Thr12=)
c.1860A>T (p.Thr620=)
n.757A>T
n.339A>T
n.758A>T
n.2732A>T
c.1095A>T (p.Thr365=)
c.9240A>T (p.Thr3080=)
c.5208A>T (p.Thr1736=)
c.16A>T
c.-22A>T (n.-22A>T)
n.2901A>T
n.170A>T
c.1053A>T (p.Thr351=)
c.2328A>T (p.Thr776=)
c.9228A>T (p.Thr3076=)
n.259A>T
c.9225A>T (p.Thr3075=)
c.9237A>T (p.Thr3079=)
c.9216A>T (p.Thr3072=)
c.8871A>T (p.Thr2957=)
c.5217A>T (p.Thr1739=)
c.9111A>T (p.Thr3037=)
c.9102A>T (p.Thr3034=)
c.9117A>T (p.Thr3039=)
c.3414A>T (p.Thr1138=)
Xg.31261001T>CCA515858546DMDc.4086A>G (p.Thr1362=)
c.36A>G (p.Thr12=)
c.1860A>G (p.Thr620=)
n.757A>G
n.339A>G
n.758A>G
n.2732A>G
c.1095A>G (p.Thr365=)
c.9240A>G (p.Thr3080=)
c.5208A>G (p.Thr1736=)
c.16A>G
c.-22A>G (n.-22A>G)
n.2901A>G
n.170A>G
c.1053A>G (p.Thr351=)
c.2328A>G (p.Thr776=)
c.9228A>G (p.Thr3076=)
n.259A>G
c.9225A>G (p.Thr3075=)
c.9237A>G (p.Thr3079=)
c.9216A>G (p.Thr3072=)
c.8871A>G (p.Thr2957=)
c.5217A>G (p.Thr1739=)
c.9111A>G (p.Thr3037=)
c.9102A>G (p.Thr3034=)
c.9117A>G (p.Thr3039=)
c.3414A>G (p.Thr1138=)
Xg.31261001T>GCA515858547DMDc.4086A>C (p.Thr1362=)
c.36A>C (p.Thr12=)
c.1860A>C (p.Thr620=)
n.757A>C
n.339A>C
n.758A>C
n.2732A>C
c.1095A>C (p.Thr365=)
c.9240A>C (p.Thr3080=)
c.5208A>C (p.Thr1736=)
c.16A>C
c.-22A>C (n.-22A>C)
n.2901A>C
n.170A>C
c.1053A>C (p.Thr351=)
c.2328A>C (p.Thr776=)
c.9228A>C (p.Thr3076=)
n.259A>C
c.9225A>C (p.Thr3075=)
c.9237A>C (p.Thr3079=)
c.9216A>C (p.Thr3072=)
c.8871A>C (p.Thr2957=)
c.5217A>C (p.Thr1739=)
c.9111A>C (p.Thr3037=)
c.9102A>C (p.Thr3034=)
c.9117A>C (p.Thr3039=)
c.3414A>C (p.Thr1138=)
Xg.31261002G>ACA412652534DMDc.4085C>T (p.Thr1362Ile)
c.35C>T (p.Thr12Ile)
c.1859C>T (p.Thr620Ile)
n.756C>T
n.338C>T
n.757C>T
n.2731C>T
c.1094C>T (p.Thr365Ile)
c.9239C>T (p.Thr3080Ile)
c.5207C>T (p.Thr1736Ile)
c.15C>T
c.-23C>T (n.-23C>T)
n.2900C>T
n.169C>T
c.1052C>T (p.Thr351Ile)
c.2327C>T (p.Thr776Ile)
c.9227C>T (p.Thr3076Ile)
n.258C>T
c.9224C>T (p.Thr3075Ile)
c.9236C>T (p.Thr3079Ile)
c.9215C>T (p.Thr3072Ile)
c.8870C>T (p.Thr2957Ile)
c.5216C>T (p.Thr1739Ile)
c.9110C>T (p.Thr3037Ile)
c.9101C>T (p.Thr3034Ile)
c.9116C>T (p.Thr3039Ile)
c.3413C>T (p.Thr1138Ile)
Xg.31261002G>CCA412652535DMDc.4085C>G (p.Thr1362Arg)
c.35C>G (p.Thr12Arg)
c.1859C>G (p.Thr620Arg)
n.756C>G
n.338C>G
n.757C>G
n.2731C>G
c.1094C>G (p.Thr365Arg)
c.9239C>G (p.Thr3080Arg)
c.5207C>G (p.Thr1736Arg)
c.15C>G
c.-23C>G (n.-23C>G)
n.2900C>G
n.169C>G
c.1052C>G (p.Thr351Arg)
c.2327C>G (p.Thr776Arg)
c.9227C>G (p.Thr3076Arg)
n.258C>G
c.9224C>G (p.Thr3075Arg)
c.9236C>G (p.Thr3079Arg)
c.9215C>G (p.Thr3072Arg)
c.8870C>G (p.Thr2957Arg)
c.5216C>G (p.Thr1739Arg)
c.9110C>G (p.Thr3037Arg)
c.9101C>G (p.Thr3034Arg)
c.9116C>G (p.Thr3039Arg)
c.3413C>G (p.Thr1138Arg)
Xg.31261002G>TCA412652536DMDc.4085C>A (p.Thr1362Lys)
c.35C>A (p.Thr12Lys)
c.1859C>A (p.Thr620Lys)
n.756C>A
n.338C>A
n.757C>A
n.2731C>A
c.1094C>A (p.Thr365Lys)
c.9239C>A (p.Thr3080Lys)
c.5207C>A (p.Thr1736Lys)
c.15C>A
c.-23C>A (n.-23C>A)
n.2900C>A
n.169C>A
c.1052C>A (p.Thr351Lys)
c.2327C>A (p.Thr776Lys)
c.9227C>A (p.Thr3076Lys)
n.258C>A
c.9224C>A (p.Thr3075Lys)
c.9236C>A (p.Thr3079Lys)
c.9215C>A (p.Thr3072Lys)
c.8870C>A (p.Thr2957Lys)
c.5216C>A (p.Thr1739Lys)
c.9110C>A (p.Thr3037Lys)
c.9101C>A (p.Thr3034Lys)
c.9116C>A (p.Thr3039Lys)
c.3413C>A (p.Thr1138Lys)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31261003T>ACA412652537DMDc.4084A>T (p.Thr1362Ser)
c.34A>T (p.Thr12Ser)
c.1858A>T (p.Thr620Ser)
n.755A>T
n.337A>T
n.756A>T
n.2730A>T
c.1093A>T (p.Thr365Ser)
c.9238A>T (p.Thr3080Ser)
c.5206A>T (p.Thr1736Ser)
c.14A>T
c.-24A>T (n.-24A>T)
n.2899A>T
n.168A>T
c.1051A>T (p.Thr351Ser)
c.2326A>T (p.Thr776Ser)
c.9226A>T (p.Thr3076Ser)
n.257A>T
c.9223A>T (p.Thr3075Ser)
c.9235A>T (p.Thr3079Ser)
c.9214A>T (p.Thr3072Ser)
c.8869A>T (p.Thr2957Ser)
c.5215A>T (p.Thr1739Ser)
c.9109A>T (p.Thr3037Ser)
c.9100A>T (p.Thr3034Ser)
c.9115A>T (p.Thr3039Ser)
c.3412A>T (p.Thr1138Ser)
Xg.31261003T>CCA412652538DMDc.4084A>G (p.Thr1362Ala)
c.34A>G (p.Thr12Ala)
c.1858A>G (p.Thr620Ala)
n.755A>G
n.337A>G
n.756A>G
n.2730A>G
c.1093A>G (p.Thr365Ala)
c.9238A>G (p.Thr3080Ala)
c.5206A>G (p.Thr1736Ala)
c.14A>G
c.-24A>G (n.-24A>G)
n.2899A>G
n.168A>G
c.1051A>G (p.Thr351Ala)
c.2326A>G (p.Thr776Ala)
c.9226A>G (p.Thr3076Ala)
n.257A>G
c.9223A>G (p.Thr3075Ala)
c.9235A>G (p.Thr3079Ala)
c.9214A>G (p.Thr3072Ala)
c.8869A>G (p.Thr2957Ala)
c.5215A>G (p.Thr1739Ala)
c.9109A>G (p.Thr3037Ala)
c.9100A>G (p.Thr3034Ala)
c.9115A>G (p.Thr3039Ala)
c.3412A>G (p.Thr1138Ala)
Xg.31261003T>GCA412652539DMDc.4084A>C (p.Thr1362Pro)
c.34A>C (p.Thr12Pro)
c.1858A>C (p.Thr620Pro)
n.755A>C
n.337A>C
n.756A>C
n.2730A>C
c.1093A>C (p.Thr365Pro)
c.9238A>C (p.Thr3080Pro)
c.5206A>C (p.Thr1736Pro)
c.14A>C
c.-24A>C (n.-24A>C)
n.2899A>C
n.168A>C
c.1051A>C (p.Thr351Pro)
c.2326A>C (p.Thr776Pro)
c.9226A>C (p.Thr3076Pro)
n.257A>C
c.9223A>C (p.Thr3075Pro)
c.9235A>C (p.Thr3079Pro)
c.9214A>C (p.Thr3072Pro)
c.8869A>C (p.Thr2957Pro)
c.5215A>C (p.Thr1739Pro)
c.9109A>C (p.Thr3037Pro)
c.9100A>C (p.Thr3034Pro)
c.9115A>C (p.Thr3039Pro)
c.3412A>C (p.Thr1138Pro)
Xg.31261005dupCA2573158745DMDc.4084dup (p.Thr1362AsnfsTer18)
c.34dup (p.Thr12AsnfsTer18)
c.1858dup (p.Thr620AsnfsTer18)
n.755dup
n.337dup
n.756dup
n.2730dup
c.1093dup (p.Thr365AsnfsTer18)
c.9238dup (p.Thr3080AsnfsTer18)
c.5206dup (p.Thr1736AsnfsTer18)
c.14dup
c.-24dup (n.-24dup)
n.2899dup
n.168dup
c.34dup (p.Thr12AsnfsTer21)
c.1051dup (p.Thr351AsnfsTer18)
c.2326dup (p.Thr776AsnfsTer18)
c.9226dup (p.Thr3076AsnfsTer18)
n.257dup
c.9223dup (p.Thr3075AsnfsTer18)
c.9235dup (p.Thr3079AsnfsTer18)
c.9214dup (p.Thr3072AsnfsTer18)
c.8869dup (p.Thr2957AsnfsTer18)
c.5215dup (p.Thr1739AsnfsTer18)
c.9109dup (p.Thr3037AsnfsTer18)
c.9100dup (p.Thr3034AsnfsTer18)
c.9115dup (p.Thr3039AsnfsTer18)
c.3412dup (p.Thr1138AsnfsTer18)
 ClinVar dbSNP
Xg.31261004T>ACA412652540DMDc.4083A>T (p.Gln1361His)
c.33A>T (p.Gln11His)
c.1857A>T (p.Gln619His)
n.754A>T
n.336A>T
n.755A>T
n.2729A>T
c.1092A>T (p.Gln364His)
c.9237A>T (p.Gln3079His)
c.5205A>T (p.Gln1735His)
c.13A>T
c.-25A>T (n.-25A>T)
n.2898A>T
n.167A>T
c.1050A>T (p.Gln350His)
c.2325A>T (p.Gln775His)
c.9225A>T (p.Gln3075His)
n.256A>T
c.9222A>T (p.Gln3074His)
c.9234A>T (p.Gln3078His)
c.9213A>T (p.Gln3071His)
c.8868A>T (p.Gln2956His)
c.5214A>T (p.Gln1738His)
c.9108A>T (p.Gln3036His)
c.9099A>T (p.Gln3033His)
c.9114A>T (p.Gln3038His)
c.3411A>T (p.Gln1137His)
Xg.31261004T>CCA515858548DMDc.4083A>G (p.Gln1361=)
c.33A>G (p.Gln11=)
c.1857A>G (p.Gln619=)
n.754A>G
n.336A>G
n.755A>G
n.2729A>G
c.1092A>G (p.Gln364=)
c.9237A>G (p.Gln3079=)
c.5205A>G (p.Gln1735=)
c.13A>G
c.-25A>G (n.-25A>G)
n.2898A>G
n.167A>G
c.1050A>G (p.Gln350=)
c.2325A>G (p.Gln775=)
c.9225A>G (p.Gln3075=)
n.256A>G
c.9222A>G (p.Gln3074=)
c.9234A>G (p.Gln3078=)
c.9213A>G (p.Gln3071=)
c.8868A>G (p.Gln2956=)
c.5214A>G (p.Gln1738=)
c.9108A>G (p.Gln3036=)
c.9099A>G (p.Gln3033=)
c.9114A>G (p.Gln3038=)
c.3411A>G (p.Gln1137=)
 ClinVar
Xg.31261004T>GCA412652541DMDc.4083A>C (p.Gln1361His)
c.33A>C (p.Gln11His)
c.1857A>C (p.Gln619His)
n.754A>C
n.336A>C
n.755A>C
n.2729A>C
c.1092A>C (p.Gln364His)
c.9237A>C (p.Gln3079His)
c.5205A>C (p.Gln1735His)
c.13A>C
c.-25A>C (n.-25A>C)
n.2898A>C
n.167A>C
c.1050A>C (p.Gln350His)
c.2325A>C (p.Gln775His)
c.9225A>C (p.Gln3075His)
n.256A>C
c.9222A>C (p.Gln3074His)
c.9234A>C (p.Gln3078His)
c.9213A>C (p.Gln3071His)
c.8868A>C (p.Gln2956His)
c.5214A>C (p.Gln1738His)
c.9108A>C (p.Gln3036His)
c.9099A>C (p.Gln3033His)
c.9114A>C (p.Gln3038His)
c.3411A>C (p.Gln1137His)
Xg.31261005T>ACA412652542DMDc.4082A>T (p.Gln1361Leu)
c.32A>T (p.Gln11Leu)
c.1856A>T (p.Gln619Leu)
n.753A>T
n.335A>T
n.754A>T
n.2728A>T
c.1091A>T (p.Gln364Leu)
c.9236A>T (p.Gln3079Leu)
c.5204A>T (p.Gln1735Leu)
c.12A>T
c.-26A>T (n.-26A>T)
n.2897A>T
n.166A>T
c.1049A>T (p.Gln350Leu)
c.2324A>T (p.Gln775Leu)
c.9224A>T (p.Gln3075Leu)
n.255A>T
c.9221A>T (p.Gln3074Leu)
c.9233A>T (p.Gln3078Leu)
c.9212A>T (p.Gln3071Leu)
c.8867A>T (p.Gln2956Leu)
c.5213A>T (p.Gln1738Leu)
c.9107A>T (p.Gln3036Leu)
c.9098A>T (p.Gln3033Leu)
c.9113A>T (p.Gln3038Leu)
c.3410A>T (p.Gln1137Leu)
Xg.31261005T>CCA412652543DMDc.4082A>G (p.Gln1361Arg)
c.32A>G (p.Gln11Arg)
c.1856A>G (p.Gln619Arg)
n.753A>G
n.335A>G
n.754A>G
n.2728A>G
c.1091A>G (p.Gln364Arg)
c.9236A>G (p.Gln3079Arg)
c.5204A>G (p.Gln1735Arg)
c.12A>G
c.-26A>G (n.-26A>G)
n.2897A>G
n.166A>G
c.1049A>G (p.Gln350Arg)
c.2324A>G (p.Gln775Arg)
c.9224A>G (p.Gln3075Arg)
n.255A>G
c.9221A>G (p.Gln3074Arg)
c.9233A>G (p.Gln3078Arg)
c.9212A>G (p.Gln3071Arg)
c.8867A>G (p.Gln2956Arg)
c.5213A>G (p.Gln1738Arg)
c.9107A>G (p.Gln3036Arg)
c.9098A>G (p.Gln3033Arg)
c.9113A>G (p.Gln3038Arg)
c.3410A>G (p.Gln1137Arg)
Xg.31261005T>GCA412652544DMDc.4082A>C (p.Gln1361Pro)
c.32A>C (p.Gln11Pro)
c.1856A>C (p.Gln619Pro)
n.753A>C
n.335A>C
n.754A>C
n.2728A>C
c.1091A>C (p.Gln364Pro)
c.9236A>C (p.Gln3079Pro)
c.5204A>C (p.Gln1735Pro)
c.12A>C
c.-26A>C (n.-26A>C)
n.2897A>C
n.166A>C
c.1049A>C (p.Gln350Pro)
c.2324A>C (p.Gln775Pro)
c.9224A>C (p.Gln3075Pro)
n.255A>C
c.9221A>C (p.Gln3074Pro)
c.9233A>C (p.Gln3078Pro)
c.9212A>C (p.Gln3071Pro)
c.8867A>C (p.Gln2956Pro)
c.5213A>C (p.Gln1738Pro)
c.9107A>C (p.Gln3036Pro)
c.9098A>C (p.Gln3033Pro)
c.9113A>C (p.Gln3038Pro)
c.3410A>C (p.Gln1137Pro)
Xg.31261006G>ACA412652545DMDc.4081C>T (p.Gln1361Ter)
c.31C>T (p.Gln11Ter)
c.1855C>T (p.Gln619Ter)
n.752C>T
n.334C>T
n.753C>T
n.2727C>T
c.1090C>T (p.Gln364Ter)
c.9235C>T (p.Gln3079Ter)
c.5203C>T (p.Gln1735Ter)
c.11C>T
c.-27C>T (n.-27C>T)
n.2896C>T
n.165C>T
c.1048C>T (p.Gln350Ter)
c.2323C>T (p.Gln775Ter)
c.9223C>T (p.Gln3075Ter)
n.254C>T
c.9220C>T (p.Gln3074Ter)
c.9232C>T (p.Gln3078Ter)
c.9211C>T (p.Gln3071Ter)
c.8866C>T (p.Gln2956Ter)
c.5212C>T (p.Gln1738Ter)
c.9106C>T (p.Gln3036Ter)
c.9097C>T (p.Gln3033Ter)
c.9112C>T (p.Gln3038Ter)
c.3409C>T (p.Gln1137Ter)
Xg.31261006G>CCA412652546DMDc.4081C>G (p.Gln1361Glu)
c.31C>G (p.Gln11Glu)
c.1855C>G (p.Gln619Glu)
n.752C>G
n.334C>G
n.753C>G
n.2727C>G
c.1090C>G (p.Gln364Glu)
c.9235C>G (p.Gln3079Glu)
c.5203C>G (p.Gln1735Glu)
c.11C>G
c.-27C>G (n.-27C>G)
n.2896C>G
n.165C>G
c.1048C>G (p.Gln350Glu)
c.2323C>G (p.Gln775Glu)
c.9223C>G (p.Gln3075Glu)
n.254C>G
c.9220C>G (p.Gln3074Glu)
c.9232C>G (p.Gln3078Glu)
c.9211C>G (p.Gln3071Glu)
c.8866C>G (p.Gln2956Glu)
c.5212C>G (p.Gln1738Glu)
c.9106C>G (p.Gln3036Glu)
c.9097C>G (p.Gln3033Glu)
c.9112C>G (p.Gln3038Glu)
c.3409C>G (p.Gln1137Glu)
Xg.31261006G>TCA412652547DMDc.4081C>A (p.Gln1361Lys)
c.31C>A (p.Gln11Lys)
c.1855C>A (p.Gln619Lys)
n.752C>A
n.334C>A
n.753C>A
n.2727C>A
c.1090C>A (p.Gln364Lys)
c.9235C>A (p.Gln3079Lys)
c.5203C>A (p.Gln1735Lys)
c.11C>A
c.-27C>A (n.-27C>A)
n.2896C>A
n.165C>A
c.1048C>A (p.Gln350Lys)
c.2323C>A (p.Gln775Lys)
c.9223C>A (p.Gln3075Lys)
n.254C>A
c.9220C>A (p.Gln3074Lys)
c.9232C>A (p.Gln3078Lys)
c.9211C>A (p.Gln3071Lys)
c.8866C>A (p.Gln2956Lys)
c.5212C>A (p.Gln1738Lys)
c.9106C>A (p.Gln3036Lys)
c.9097C>A (p.Gln3033Lys)
c.9112C>A (p.Gln3038Lys)
c.3409C>A (p.Gln1137Lys)
Xg.31261007A>CCA515858551DMDc.4080T>G (p.Thr1360=)
c.30T>G (p.Thr10=)
c.1854T>G (p.Thr618=)
n.751T>G
n.333T>G
n.752T>G
n.2726T>G
c.1089T>G (p.Thr363=)
c.9234T>G (p.Thr3078=)
c.5202T>G (p.Thr1734=)
c.10T>G
c.-28T>G (n.-28T>G)
n.2895T>G
n.164T>G
c.1047T>G (p.Thr349=)
c.2322T>G (p.Thr774=)
c.9222T>G (p.Thr3074=)
n.253T>G
c.9219T>G (p.Thr3073=)
c.9231T>G (p.Thr3077=)
c.9210T>G (p.Thr3070=)
c.8865T>G (p.Thr2955=)
c.5211T>G (p.Thr1737=)
c.9105T>G (p.Thr3035=)
c.9096T>G (p.Thr3032=)
c.9111T>G (p.Thr3037=)
c.3408T>G (p.Thr1136=)
Xg.31261007A>GCA515858550DMDc.4080T>C (p.Thr1360=)
c.30T>C (p.Thr10=)
c.1854T>C (p.Thr618=)
n.751T>C
n.333T>C
n.752T>C
n.2726T>C
c.1089T>C (p.Thr363=)
c.9234T>C (p.Thr3078=)
c.5202T>C (p.Thr1734=)
c.10T>C
c.-28T>C (n.-28T>C)
n.2895T>C
n.164T>C
c.1047T>C (p.Thr349=)
c.2322T>C (p.Thr774=)
c.9222T>C (p.Thr3074=)
n.253T>C
c.9219T>C (p.Thr3073=)
c.9231T>C (p.Thr3077=)
c.9210T>C (p.Thr3070=)
c.8865T>C (p.Thr2955=)
c.5211T>C (p.Thr1737=)
c.9105T>C (p.Thr3035=)
c.9096T>C (p.Thr3032=)
c.9111T>C (p.Thr3037=)
c.3408T>C (p.Thr1136=)
Xg.31261007A>TCA515858549DMDc.4080T>A (p.Thr1360=)
c.30T>A (p.Thr10=)
c.1854T>A (p.Thr618=)
n.751T>A
n.333T>A
n.752T>A
n.2726T>A
c.1089T>A (p.Thr363=)
c.9234T>A (p.Thr3078=)
c.5202T>A (p.Thr1734=)
c.10T>A
c.-28T>A (n.-28T>A)
n.2895T>A
n.164T>A
c.1047T>A (p.Thr349=)
c.2322T>A (p.Thr774=)
c.9222T>A (p.Thr3074=)
n.253T>A
c.9219T>A (p.Thr3073=)
c.9231T>A (p.Thr3077=)
c.9210T>A (p.Thr3070=)
c.8865T>A (p.Thr2955=)
c.5211T>A (p.Thr1737=)
c.9105T>A (p.Thr3035=)
c.9096T>A (p.Thr3032=)
c.9111T>A (p.Thr3037=)
c.3408T>A (p.Thr1136=)
 ClinVar dbSNP
Xg.31261008G>ACA412652548DMDc.4079C>T (p.Thr1360Ile)
c.29C>T (p.Thr10Ile)
c.1853C>T (p.Thr618Ile)
n.750C>T
n.332C>T
n.751C>T
n.2725C>T
c.1088C>T (p.Thr363Ile)
c.9233C>T (p.Thr3078Ile)
c.5201C>T (p.Thr1734Ile)
c.9C>T
c.-29C>T (n.-29C>T)
n.2894C>T
n.163C>T
c.1046C>T (p.Thr349Ile)
c.2321C>T (p.Thr774Ile)
c.9221C>T (p.Thr3074Ile)
n.252C>T
c.9218C>T (p.Thr3073Ile)
c.9230C>T (p.Thr3077Ile)
c.9209C>T (p.Thr3070Ile)
c.8864C>T (p.Thr2955Ile)
c.5210C>T (p.Thr1737Ile)
c.9104C>T (p.Thr3035Ile)
c.9095C>T (p.Thr3032Ile)
c.9110C>T (p.Thr3037Ile)
c.3407C>T (p.Thr1136Ile)
Xg.31261008G>CCA412652549DMDc.4079C>G (p.Thr1360Ser)
c.29C>G (p.Thr10Ser)
c.1853C>G (p.Thr618Ser)
n.750C>G
n.332C>G
n.751C>G
n.2725C>G
c.1088C>G (p.Thr363Ser)
c.9233C>G (p.Thr3078Ser)
c.5201C>G (p.Thr1734Ser)
c.9C>G
c.-29C>G (n.-29C>G)
n.2894C>G
n.163C>G
c.1046C>G (p.Thr349Ser)
c.2321C>G (p.Thr774Ser)
c.9221C>G (p.Thr3074Ser)
n.252C>G
c.9218C>G (p.Thr3073Ser)
c.9230C>G (p.Thr3077Ser)
c.9209C>G (p.Thr3070Ser)
c.8864C>G (p.Thr2955Ser)
c.5210C>G (p.Thr1737Ser)
c.9104C>G (p.Thr3035Ser)
c.9095C>G (p.Thr3032Ser)
c.9110C>G (p.Thr3037Ser)
c.3407C>G (p.Thr1136Ser)
 gnomAD v4
Xg.31261008G>TCA412652550DMDc.4079C>A (p.Thr1360Asn)
c.29C>A (p.Thr10Asn)
c.1853C>A (p.Thr618Asn)
n.750C>A
n.332C>A
n.751C>A
n.2725C>A
c.1088C>A (p.Thr363Asn)
c.9233C>A (p.Thr3078Asn)
c.5201C>A (p.Thr1734Asn)
c.9C>A
c.-29C>A (n.-29C>A)
n.2894C>A
n.163C>A
c.1046C>A (p.Thr349Asn)
c.2321C>A (p.Thr774Asn)
c.9221C>A (p.Thr3074Asn)
n.252C>A
c.9218C>A (p.Thr3073Asn)
c.9230C>A (p.Thr3077Asn)
c.9209C>A (p.Thr3070Asn)
c.8864C>A (p.Thr2955Asn)
c.5210C>A (p.Thr1737Asn)
c.9104C>A (p.Thr3035Asn)
c.9095C>A (p.Thr3032Asn)
c.9110C>A (p.Thr3037Asn)
c.3407C>A (p.Thr1136Asn)
Xg.31261009T>ACA412652551DMDc.4078A>T (p.Thr1360Ser)
c.28A>T (p.Thr10Ser)
c.1852A>T (p.Thr618Ser)
n.749A>T
n.331A>T
n.750A>T
n.2724A>T
c.1087A>T (p.Thr363Ser)
c.9232A>T (p.Thr3078Ser)
c.5200A>T (p.Thr1734Ser)
c.8A>T
c.-30A>T (n.-30A>T)
n.2893A>T
n.162A>T
c.1045A>T (p.Thr349Ser)
c.2320A>T (p.Thr774Ser)
c.9220A>T (p.Thr3074Ser)
n.251A>T
c.9217A>T (p.Thr3073Ser)
c.9229A>T (p.Thr3077Ser)
c.9208A>T (p.Thr3070Ser)
c.8863A>T (p.Thr2955Ser)
c.5209A>T (p.Thr1737Ser)
c.9103A>T (p.Thr3035Ser)
c.9094A>T (p.Thr3032Ser)
c.9109A>T (p.Thr3037Ser)
c.3406A>T (p.Thr1136Ser)
Xg.31261009T>CCA412652552DMDc.4078A>G (p.Thr1360Ala)
c.28A>G (p.Thr10Ala)
c.1852A>G (p.Thr618Ala)
n.749A>G
n.331A>G
n.750A>G
n.2724A>G
c.1087A>G (p.Thr363Ala)
c.9232A>G (p.Thr3078Ala)
c.5200A>G (p.Thr1734Ala)
c.8A>G
c.-30A>G (n.-30A>G)
n.2893A>G
n.162A>G
c.1045A>G (p.Thr349Ala)
c.2320A>G (p.Thr774Ala)
c.9220A>G (p.Thr3074Ala)
n.251A>G
c.9217A>G (p.Thr3073Ala)
c.9229A>G (p.Thr3077Ala)
c.9208A>G (p.Thr3070Ala)
c.8863A>G (p.Thr2955Ala)
c.5209A>G (p.Thr1737Ala)
c.9103A>G (p.Thr3035Ala)
c.9094A>G (p.Thr3032Ala)
c.9109A>G (p.Thr3037Ala)
c.3406A>G (p.Thr1136Ala)
Xg.31261009T>GCA412652553DMDc.4078A>C (p.Thr1360Pro)
c.28A>C (p.Thr10Pro)
c.1852A>C (p.Thr618Pro)
n.749A>C
n.331A>C
n.750A>C
n.2724A>C
c.1087A>C (p.Thr363Pro)
c.9232A>C (p.Thr3078Pro)
c.5200A>C (p.Thr1734Pro)
c.8A>C
c.-30A>C (n.-30A>C)
n.2893A>C
n.162A>C
c.1045A>C (p.Thr349Pro)
c.2320A>C (p.Thr774Pro)
c.9220A>C (p.Thr3074Pro)
n.251A>C
c.9217A>C (p.Thr3073Pro)
c.9229A>C (p.Thr3077Pro)
c.9208A>C (p.Thr3070Pro)
c.8863A>C (p.Thr2955Pro)
c.5209A>C (p.Thr1737Pro)
c.9103A>C (p.Thr3035Pro)
c.9094A>C (p.Thr3032Pro)
c.9109A>C (p.Thr3037Pro)
c.3406A>C (p.Thr1136Pro)
Xg.31261009T=CA2422368495DMDc.4078A= (p.Thr1360=)
c.28A= (p.Thr10=)
c.1852A= (p.Thr618=)
n.749A=
n.331A=
n.750A=
n.2724A=
c.1087A= (p.Thr363=)
c.9232A= (p.Thr3078=)
c.5200A= (p.Thr1734=)
c.8A=
c.-30A= (n.-30A=)
n.2893A=
n.162A=
c.1045A= (p.Thr349=)
c.2320A= (p.Thr774=)
c.9220A= (p.Thr3074=)
n.251A=
c.9217A= (p.Thr3073=)
c.9229A= (p.Thr3077=)
c.9208A= (p.Thr3070=)
c.8863A= (p.Thr2955=)
c.5209A= (p.Thr1737=)
c.9103A= (p.Thr3035=)
c.9094A= (p.Thr3032=)
c.9109A= (p.Thr3037=)
c.3406A= (p.Thr1136=)
Xg.31261010C>ACA412652554DMDc.4077G>T (p.Glu1359Asp)
c.27G>T (p.Glu9Asp)
c.1851G>T (p.Glu617Asp)
n.748G>T
n.330G>T
n.749G>T
n.2723G>T
c.1086G>T (p.Glu362Asp)
c.9231G>T (p.Glu3077Asp)
c.5199G>T (p.Glu1733Asp)
c.7G>T
c.-31G>T (n.-31G>T)
n.2892G>T
n.161G>T
c.1044G>T (p.Glu348Asp)
c.2319G>T (p.Glu773Asp)
c.9219G>T (p.Glu3073Asp)
n.250G>T
c.9216G>T (p.Glu3072Asp)
c.9228G>T (p.Glu3076Asp)
c.9207G>T (p.Glu3069Asp)
c.8862G>T (p.Glu2954Asp)
c.5208G>T (p.Glu1736Asp)
c.9102G>T (p.Glu3034Asp)
c.9093G>T (p.Glu3031Asp)
c.9108G>T (p.Glu3036Asp)
c.3405G>T (p.Glu1135Asp)
Xg.31261010C>GCA412652555DMDc.4077G>C (p.Glu1359Asp)
c.27G>C (p.Glu9Asp)
c.1851G>C (p.Glu617Asp)
n.748G>C
n.330G>C
n.749G>C
n.2723G>C
c.1086G>C (p.Glu362Asp)
c.9231G>C (p.Glu3077Asp)
c.5199G>C (p.Glu1733Asp)
c.7G>C
c.-31G>C (n.-31G>C)
n.2892G>C
n.161G>C
c.1044G>C (p.Glu348Asp)
c.2319G>C (p.Glu773Asp)
c.9219G>C (p.Glu3073Asp)
n.250G>C
c.9216G>C (p.Glu3072Asp)
c.9228G>C (p.Glu3076Asp)
c.9207G>C (p.Glu3069Asp)
c.8862G>C (p.Glu2954Asp)
c.5208G>C (p.Glu1736Asp)
c.9102G>C (p.Glu3034Asp)
c.9093G>C (p.Glu3031Asp)
c.9108G>C (p.Glu3036Asp)
c.3405G>C (p.Glu1135Asp)
Xg.31261010C>TCA515858552DMDc.4077G>A (p.Glu1359=)
c.27G>A (p.Glu9=)
c.1851G>A (p.Glu617=)
n.748G>A
n.330G>A
n.749G>A
n.2723G>A
c.1086G>A (p.Glu362=)
c.9231G>A (p.Glu3077=)
c.5199G>A (p.Glu1733=)
c.7G>A
c.-31G>A (n.-31G>A)
n.2892G>A
n.161G>A
c.1044G>A (p.Glu348=)
c.2319G>A (p.Glu773=)
c.9219G>A (p.Glu3073=)
n.250G>A
c.9216G>A (p.Glu3072=)
c.9228G>A (p.Glu3076=)
c.9207G>A (p.Glu3069=)
c.8862G>A (p.Glu2954=)
c.5208G>A (p.Glu1736=)
c.9102G>A (p.Glu3034=)
c.9093G>A (p.Glu3031=)
c.9108G>A (p.Glu3036=)
c.3405G>A (p.Glu1135=)
Xg.31261010dupCA915950891DMDc.4077dup (p.Thr1360AspfsTer20)
c.27dup (p.Thr10AspfsTer20)
c.1851dup (p.Thr618AspfsTer20)
n.748dup
n.330dup
n.749dup
n.2723dup
c.1086dup (p.Thr363AspfsTer20)
c.9231dup (p.Thr3078AspfsTer20)
c.5199dup (p.Thr1734AspfsTer20)
c.7dup
c.-31dup (n.-31dup)
n.2892dup
n.161dup
c.27dup (p.Thr10AspfsTer23)
c.1044dup (p.Thr349AspfsTer20)
c.2319dup (p.Thr774AspfsTer20)
c.9219dup (p.Thr3074AspfsTer20)
n.250dup
c.9216dup (p.Thr3073AspfsTer20)
c.9228dup (p.Thr3077AspfsTer20)
c.9207dup (p.Thr3070AspfsTer20)
c.8862dup (p.Thr2955AspfsTer20)
c.5208dup (p.Thr1737AspfsTer20)
c.9102dup (p.Thr3035AspfsTer20)
c.9093dup (p.Thr3032AspfsTer20)
c.9108dup (p.Thr3037AspfsTer20)
c.3405dup (p.Thr1136AspfsTer20)
 ClinVar dbSNP
Xg.31261011T>ACA412652556DMDc.4076A>T (p.Glu1359Val)
c.26A>T (p.Glu9Val)
c.1850A>T (p.Glu617Val)
n.747A>T
n.329A>T
n.748A>T
n.2722A>T
c.1085A>T (p.Glu362Val)
c.9230A>T (p.Glu3077Val)
c.5198A>T (p.Glu1733Val)
c.6A>T
c.-32A>T (n.-32A>T)
n.2891A>T
n.160A>T
c.1043A>T (p.Glu348Val)
c.2318A>T (p.Glu773Val)
c.9218A>T (p.Glu3073Val)
n.249A>T
c.9215A>T (p.Glu3072Val)
c.9227A>T (p.Glu3076Val)
c.9206A>T (p.Glu3069Val)
c.8861A>T (p.Glu2954Val)
c.5207A>T (p.Glu1736Val)
c.9101A>T (p.Glu3034Val)
c.9092A>T (p.Glu3031Val)
c.9107A>T (p.Glu3036Val)
c.3404A>T (p.Glu1135Val)
Xg.31261011T>CCA412652557DMDc.4076A>G (p.Glu1359Gly)
c.26A>G (p.Glu9Gly)
c.1850A>G (p.Glu617Gly)
n.747A>G
n.329A>G
n.748A>G
n.2722A>G
c.1085A>G (p.Glu362Gly)
c.9230A>G (p.Glu3077Gly)
c.5198A>G (p.Glu1733Gly)
c.6A>G
c.-32A>G (n.-32A>G)
n.2891A>G
n.160A>G
c.1043A>G (p.Glu348Gly)
c.2318A>G (p.Glu773Gly)
c.9218A>G (p.Glu3073Gly)
n.249A>G
c.9215A>G (p.Glu3072Gly)
c.9227A>G (p.Glu3076Gly)
c.9206A>G (p.Glu3069Gly)
c.8861A>G (p.Glu2954Gly)
c.5207A>G (p.Glu1736Gly)
c.9101A>G (p.Glu3034Gly)
c.9092A>G (p.Glu3031Gly)
c.9107A>G (p.Glu3036Gly)
c.3404A>G (p.Glu1135Gly)
Xg.31261011T>GCA412652558DMDc.4076A>C (p.Glu1359Ala)
c.26A>C (p.Glu9Ala)
c.1850A>C (p.Glu617Ala)
n.747A>C
n.329A>C
n.748A>C
n.2722A>C
c.1085A>C (p.Glu362Ala)
c.9230A>C (p.Glu3077Ala)
c.5198A>C (p.Glu1733Ala)
c.6A>C
c.-32A>C (n.-32A>C)
n.2891A>C
n.160A>C
c.1043A>C (p.Glu348Ala)
c.2318A>C (p.Glu773Ala)
c.9218A>C (p.Glu3073Ala)
n.249A>C
c.9215A>C (p.Glu3072Ala)
c.9227A>C (p.Glu3076Ala)
c.9206A>C (p.Glu3069Ala)
c.8861A>C (p.Glu2954Ala)
c.5207A>C (p.Glu1736Ala)
c.9101A>C (p.Glu3034Ala)
c.9092A>C (p.Glu3031Ala)
c.9107A>C (p.Glu3036Ala)
c.3404A>C (p.Glu1135Ala)
Xg.31261012C>ACA412652559DMDc.4075G>T (p.Glu1359Ter)
c.25G>T (p.Glu9Ter)
c.1849G>T (p.Glu617Ter)
n.746G>T
n.328G>T
n.747G>T
n.2721G>T
c.1084G>T (p.Glu362Ter)
c.9229G>T (p.Glu3077Ter)
c.5197G>T (p.Glu1733Ter)
c.5G>T
c.-33G>T (n.-33G>T)
n.2890G>T
n.159G>T
c.1042G>T (p.Glu348Ter)
c.2317G>T (p.Glu773Ter)
c.9217G>T (p.Glu3073Ter)
n.248G>T
c.9214G>T (p.Glu3072Ter)
c.9226G>T (p.Glu3076Ter)
c.9205G>T (p.Glu3069Ter)
c.8860G>T (p.Glu2954Ter)
c.5206G>T (p.Glu1736Ter)
c.9100G>T (p.Glu3034Ter)
c.9091G>T (p.Glu3031Ter)
c.9106G>T (p.Glu3036Ter)
c.3403G>T (p.Glu1135Ter)
Xg.31261012C>GCA412652560DMDc.4075G>C (p.Glu1359Gln)
c.25G>C (p.Glu9Gln)
c.1849G>C (p.Glu617Gln)
n.746G>C
n.328G>C
n.747G>C
n.2721G>C
c.1084G>C (p.Glu362Gln)
c.9229G>C (p.Glu3077Gln)
c.5197G>C (p.Glu1733Gln)
c.5G>C
c.-33G>C (n.-33G>C)
n.2890G>C
n.159G>C
c.1042G>C (p.Glu348Gln)
c.2317G>C (p.Glu773Gln)
c.9217G>C (p.Glu3073Gln)
n.248G>C
c.9214G>C (p.Glu3072Gln)
c.9226G>C (p.Glu3076Gln)
c.9205G>C (p.Glu3069Gln)
c.8860G>C (p.Glu2954Gln)
c.5206G>C (p.Glu1736Gln)
c.9100G>C (p.Glu3034Gln)
c.9091G>C (p.Glu3031Gln)
c.9106G>C (p.Glu3036Gln)
c.3403G>C (p.Glu1135Gln)
Xg.31261012C>TCA412652561DMDc.4075G>A (p.Glu1359Lys)
c.25G>A (p.Glu9Lys)
c.1849G>A (p.Glu617Lys)
n.746G>A
n.328G>A
n.747G>A
n.2721G>A
c.1084G>A (p.Glu362Lys)
c.9229G>A (p.Glu3077Lys)
c.5197G>A (p.Glu1733Lys)
c.5G>A
c.-33G>A (n.-33G>A)
n.2890G>A
n.159G>A
c.1042G>A (p.Glu348Lys)
c.2317G>A (p.Glu773Lys)
c.9217G>A (p.Glu3073Lys)
n.248G>A
c.9214G>A (p.Glu3072Lys)
c.9226G>A (p.Glu3076Lys)
c.9205G>A (p.Glu3069Lys)
c.8860G>A (p.Glu2954Lys)
c.5206G>A (p.Glu1736Lys)
c.9100G>A (p.Glu3034Lys)
c.9091G>A (p.Glu3031Lys)
c.9106G>A (p.Glu3036Lys)
c.3403G>A (p.Glu1135Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31261012_31261013insTCA2695232329DMDc.4074_4075insA (p.Glu1359ArgfsTer21)
c.24_25insA (p.Glu9ArgfsTer21)
c.1848_1849insA (p.Glu617ArgfsTer21)
n.745_746insA
n.327_328insA
n.746_747insA
n.2720_2721insA
c.1083_1084insA (p.Glu362ArgfsTer21)
c.9228_9229insA (p.Glu3077ArgfsTer21)
c.5196_5197insA (p.Glu1733ArgfsTer21)
c.4_5insA
c.-34_-33insA (n.-34_-33insA)
n.2889_2890insA
n.158_159insA
c.24_25insA (p.Glu9ArgfsTer24)
c.1041_1042insA (p.Glu348ArgfsTer21)
c.2316_2317insA (p.Glu773ArgfsTer21)
c.9216_9217insA (p.Glu3073ArgfsTer21)
n.247_248insA
c.9213_9214insA (p.Glu3072ArgfsTer21)
c.9225_9226insA (p.Glu3076ArgfsTer21)
c.9204_9205insA (p.Glu3069ArgfsTer21)
c.8859_8860insA (p.Glu2954ArgfsTer21)
c.5205_5206insA (p.Glu1736ArgfsTer21)
c.9099_9100insA (p.Glu3034ArgfsTer21)
c.9090_9091insA (p.Glu3031ArgfsTer21)
c.9105_9106insA (p.Glu3036ArgfsTer21)
c.3402_3403insA (p.Glu1135ArgfsTer21)
Xg.31261013G>ACA10377853DMDc.4074C>T (p.His1358=)
c.24C>T (p.His8=)
c.1848C>T (p.His616=)
n.745C>T
n.327C>T
n.746C>T
n.2720C>T
c.1083C>T (p.His361=)
c.9228C>T (p.His3076=)
c.5196C>T (p.His1732=)
c.4C>T
c.-34C>T (n.-34C>T)
n.2889C>T
n.158C>T
c.1041C>T (p.His347=)
c.2316C>T (p.His772=)
c.9216C>T (p.His3072=)
n.247C>T
c.9213C>T (p.His3071=)
c.9225C>T (p.His3075=)
c.9204C>T (p.His3068=)
c.8859C>T (p.His2953=)
c.5205C>T (p.His1735=)
c.9099C>T (p.His3033=)
c.9090C>T (p.His3030=)
c.9105C>T (p.His3035=)
c.3402C>T (p.His1134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31261013G>CCA412652562DMDc.4074C>G (p.His1358Gln)
c.24C>G (p.His8Gln)
c.1848C>G (p.His616Gln)
n.745C>G
n.327C>G
n.746C>G
n.2720C>G
c.1083C>G (p.His361Gln)
c.9228C>G (p.His3076Gln)
c.5196C>G (p.His1732Gln)
c.4C>G
c.-34C>G (n.-34C>G)
n.2889C>G
n.158C>G
c.1041C>G (p.His347Gln)
c.2316C>G (p.His772Gln)
c.9216C>G (p.His3072Gln)
n.247C>G
c.9213C>G (p.His3071Gln)
c.9225C>G (p.His3075Gln)
c.9204C>G (p.His3068Gln)
c.8859C>G (p.His2953Gln)
c.5205C>G (p.His1735Gln)
c.9099C>G (p.His3033Gln)
c.9090C>G (p.His3030Gln)
c.9105C>G (p.His3035Gln)
c.3402C>G (p.His1134Gln)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31261013G=CA2422368496DMDc.4074C= (p.His1358=)
c.24C= (p.His8=)
c.1848C= (p.His616=)
n.745C=
n.327C=
n.746C=
n.2720C=
c.1083C= (p.His361=)
c.9228C= (p.His3076=)
c.5196C= (p.His1732=)
c.4C=
c.-34C= (n.-34C=)
n.2889C=
n.158C=
c.1041C= (p.His347=)
c.2316C= (p.His772=)
c.9216C= (p.His3072=)
n.247C=
c.9213C= (p.His3071=)
c.9225C= (p.His3075=)
c.9204C= (p.His3068=)
c.8859C= (p.His2953=)
c.5205C= (p.His1735=)
c.9099C= (p.His3033=)
c.9090C= (p.His3030=)
c.9105C= (p.His3035=)
c.3402C= (p.His1134=)
Xg.31261013G>TCA412652563DMDc.4074C>A (p.His1358Gln)
c.24C>A (p.His8Gln)
c.1848C>A (p.His616Gln)
n.745C>A
n.327C>A
n.746C>A
n.2720C>A
c.1083C>A (p.His361Gln)
c.9228C>A (p.His3076Gln)
c.5196C>A (p.His1732Gln)
c.4C>A
c.-34C>A (n.-34C>A)
n.2889C>A
n.158C>A
c.1041C>A (p.His347Gln)
c.2316C>A (p.His772Gln)
c.9216C>A (p.His3072Gln)
n.247C>A
c.9213C>A (p.His3071Gln)
c.9225C>A (p.His3075Gln)
c.9204C>A (p.His3068Gln)
c.8859C>A (p.His2953Gln)
c.5205C>A (p.His1735Gln)
c.9099C>A (p.His3033Gln)
c.9090C>A (p.His3030Gln)
c.9105C>A (p.His3035Gln)
c.3402C>A (p.His1134Gln)
Xg.31261014T>ACA412652564DMDc.4073A>T (p.His1358Leu)
c.23A>T (p.His8Leu)
c.1847A>T (p.His616Leu)
n.744A>T
n.326A>T
n.745A>T
n.2719A>T
c.1082A>T (p.His361Leu)
c.9227A>T (p.His3076Leu)
c.5195A>T (p.His1732Leu)
c.3A>T
c.-35A>T (n.-35A>T)
n.2888A>T
n.157A>T
c.1040A>T (p.His347Leu)
c.2315A>T (p.His772Leu)
c.9215A>T (p.His3072Leu)
n.246A>T
c.9212A>T (p.His3071Leu)
c.9224A>T (p.His3075Leu)
c.9203A>T (p.His3068Leu)
c.8858A>T (p.His2953Leu)
c.5204A>T (p.His1735Leu)
c.9098A>T (p.His3033Leu)
c.9089A>T (p.His3030Leu)
c.9104A>T (p.His3035Leu)
c.3401A>T (p.His1134Leu)
Xg.31261014T>CCA412652565DMDc.4073A>G (p.His1358Arg)
c.23A>G (p.His8Arg)
c.1847A>G (p.His616Arg)
n.744A>G
n.326A>G
n.745A>G
n.2719A>G
c.1082A>G (p.His361Arg)
c.9227A>G (p.His3076Arg)
c.5195A>G (p.His1732Arg)
c.3A>G
c.-35A>G (n.-35A>G)
n.2888A>G
n.157A>G
c.1040A>G (p.His347Arg)
c.2315A>G (p.His772Arg)
c.9215A>G (p.His3072Arg)
n.246A>G
c.9212A>G (p.His3071Arg)
c.9224A>G (p.His3075Arg)
c.9203A>G (p.His3068Arg)
c.8858A>G (p.His2953Arg)
c.5204A>G (p.His1735Arg)
c.9098A>G (p.His3033Arg)
c.9089A>G (p.His3030Arg)
c.9104A>G (p.His3035Arg)
c.3401A>G (p.His1134Arg)
Xg.31261014T>GCA412652566DMDc.4073A>C (p.His1358Pro)
c.23A>C (p.His8Pro)
c.1847A>C (p.His616Pro)
n.744A>C
n.326A>C
n.745A>C
n.2719A>C
c.1082A>C (p.His361Pro)
c.9227A>C (p.His3076Pro)
c.5195A>C (p.His1732Pro)
c.3A>C
c.-35A>C (n.-35A>C)
n.2888A>C
n.157A>C
c.1040A>C (p.His347Pro)
c.2315A>C (p.His772Pro)
c.9215A>C (p.His3072Pro)
n.246A>C
c.9212A>C (p.His3071Pro)
c.9224A>C (p.His3075Pro)
c.9203A>C (p.His3068Pro)
c.8858A>C (p.His2953Pro)
c.5204A>C (p.His1735Pro)
c.9098A>C (p.His3033Pro)
c.9089A>C (p.His3030Pro)
c.9104A>C (p.His3035Pro)
c.3401A>C (p.His1134Pro)
Xg.31261015G>ACA412652568DMDc.4072C>T (p.His1358Tyr)
c.22C>T (p.His8Tyr)
c.1846C>T (p.His616Tyr)
n.743C>T
n.325C>T
n.744C>T
n.2718C>T
c.1081C>T (p.His361Tyr)
c.9226C>T (p.His3076Tyr)
c.5194C>T (p.His1732Tyr)
c.2C>T
c.-36C>T (n.-36C>T)
n.2887C>T
n.156C>T
c.1039C>T (p.His347Tyr)
c.2314C>T (p.His772Tyr)
c.9214C>T (p.His3072Tyr)
n.245C>T
c.9211C>T (p.His3071Tyr)
c.9223C>T (p.His3075Tyr)
c.9202C>T (p.His3068Tyr)
c.8857C>T (p.His2953Tyr)
c.5203C>T (p.His1735Tyr)
c.9097C>T (p.His3033Tyr)
c.9088C>T (p.His3030Tyr)
c.9103C>T (p.His3035Tyr)
c.3400C>T (p.His1134Tyr)
Xg.31261015G>CCA412652569DMDc.4072C>G (p.His1358Asp)
c.22C>G (p.His8Asp)
c.1846C>G (p.His616Asp)
n.743C>G
n.325C>G
n.744C>G
n.2718C>G
c.1081C>G (p.His361Asp)
c.9226C>G (p.His3076Asp)
c.5194C>G (p.His1732Asp)
c.2C>G
c.-36C>G (n.-36C>G)
n.2887C>G
n.156C>G
c.1039C>G (p.His347Asp)
c.2314C>G (p.His772Asp)
c.9214C>G (p.His3072Asp)
n.245C>G
c.9211C>G (p.His3071Asp)
c.9223C>G (p.His3075Asp)
c.9202C>G (p.His3068Asp)
c.8857C>G (p.His2953Asp)
c.5203C>G (p.His1735Asp)
c.9097C>G (p.His3033Asp)
c.9088C>G (p.His3030Asp)
c.9103C>G (p.His3035Asp)
c.3400C>G (p.His1134Asp)
Xg.31261015G>TCA412652567DMDc.4072C>A (p.His1358Asn)
c.22C>A (p.His8Asn)
c.1846C>A (p.His616Asn)
n.743C>A
n.325C>A
n.744C>A
n.2718C>A
c.1081C>A (p.His361Asn)
c.9226C>A (p.His3076Asn)
c.5194C>A (p.His1732Asn)
c.2C>A
c.-36C>A (n.-36C>A)
n.2887C>A
n.156C>A
c.1039C>A (p.His347Asn)
c.2314C>A (p.His772Asn)
c.9214C>A (p.His3072Asn)
n.245C>A
c.9211C>A (p.His3071Asn)
c.9223C>A (p.His3075Asn)
c.9202C>A (p.His3068Asn)
c.8857C>A (p.His2953Asn)
c.5203C>A (p.His1735Asn)
c.9097C>A (p.His3033Asn)
c.9088C>A (p.His3030Asn)
c.9103C>A (p.His3035Asn)
c.3400C>A (p.His1134Asn)
Xg.31261016G>ACA515858553DMDc.4071C>T (p.Asn1357=)
c.21C>T (p.Gly7=)
c.1845C>T (p.Asn615=)
n.742C>T
n.324C>T
n.743C>T
n.2717C>T
c.1080C>T (p.Asn360=)
c.9225C>T (p.Asn3075=)
c.5193C>T (p.Asn1731=)
c.1C>T
c.-37C>T (n.-37C>T)
n.2886C>T
n.155C>T
c.1038C>T (p.Asn346=)
c.2313C>T (p.Asn771=)
c.9213C>T (p.Asn3071=)
n.244C>T
c.9210C>T (p.Asn3070=)
c.9222C>T (p.Asn3074=)
c.9201C>T (p.Asn3067=)
c.8856C>T (p.Asn2952=)
c.5202C>T (p.Asn1734=)
c.9096C>T (p.Asn3032=)
c.9087C>T (p.Asn3029=)
c.9102C>T (p.Asn3034=)
c.3399C>T (p.Asn1133=)
Xg.31261016G>CCA412652570DMDc.4071C>G (p.Asn1357Lys)
c.21C>G (p.Gly7=)
c.1845C>G (p.Asn615Lys)
n.742C>G
n.324C>G
n.743C>G
n.2717C>G
c.1080C>G (p.Asn360Lys)
c.9225C>G (p.Asn3075Lys)
c.5193C>G (p.Asn1731Lys)
c.1C>G
c.-37C>G (n.-37C>G)
n.2886C>G
n.155C>G
c.1038C>G (p.Asn346Lys)
c.2313C>G (p.Asn771Lys)
c.9213C>G (p.Asn3071Lys)
n.244C>G
c.9210C>G (p.Asn3070Lys)
c.9222C>G (p.Asn3074Lys)
c.9201C>G (p.Asn3067Lys)
c.8856C>G (p.Asn2952Lys)
c.5202C>G (p.Asn1734Lys)
c.9096C>G (p.Asn3032Lys)
c.9087C>G (p.Asn3029Lys)
c.9102C>G (p.Asn3034Lys)
c.3399C>G (p.Asn1133Lys)
Xg.31261016G>TCA412652571DMDc.4071C>A (p.Asn1357Lys)
c.21C>A (p.Gly7=)
c.1845C>A (p.Asn615Lys)
n.742C>A
n.324C>A
n.743C>A
n.2717C>A
c.1080C>A (p.Asn360Lys)
c.9225C>A (p.Asn3075Lys)
c.5193C>A (p.Asn1731Lys)
c.1C>A
c.-37C>A (n.-37C>A)
n.2886C>A
n.155C>A
c.1038C>A (p.Asn346Lys)
c.2313C>A (p.Asn771Lys)
c.9213C>A (p.Asn3071Lys)
n.244C>A
c.9210C>A (p.Asn3070Lys)
c.9222C>A (p.Asn3074Lys)
c.9201C>A (p.Asn3067Lys)
c.8856C>A (p.Asn2952Lys)
c.5202C>A (p.Asn1734Lys)
c.9096C>A (p.Asn3032Lys)
c.9087C>A (p.Asn3029Lys)
c.9102C>A (p.Asn3034Lys)
c.3399C>A (p.Asn1133Lys)
Xg.31261016_31261017insTTGATATAGTAGGGCACA2820291251DMDc.4071-1_4071insTGCCCTACTATATCAA (n.4071-1_4071insTGCCCTACTATATCAA)
c.21-1_21insTGCCCTACTATATCAA (n.21-1_21insTGCCCTACTATATCAA)
c.1845-1_1845insTGCCCTACTATATCAA (n.1845-1_1845insTGCCCTACTATATCAA)
n.742-1_742insTGCCCTACTATATCAA
n.324-1_324insTGCCCTACTATATCAA
n.743-1_743insTGCCCTACTATATCAA
n.2717-1_2717insTGCCCTACTATATCAA
c.1080-1_1080insTGCCCTACTATATCAA (n.1080-1_1080insTGCCCTACTATATCAA)
c.9225-1_9225insTGCCCTACTATATCAA (n.9225-1_9225insTGCCCTACTATATCAA)
c.5193-1_5193insTGCCCTACTATATCAA (n.5193-1_5193insTGCCCTACTATATCAA)
c.-37-1_-37insTGCCCTACTATATCAA (n.-37-1_-37insTGCCCTACTATATCAA)
n.2886-1_2886insTGCCCTACTATATCAA
n.155-1_155insTGCCCTACTATATCAA
c.1038-1_1038insTGCCCTACTATATCAA (n.1038-1_1038insTGCCCTACTATATCAA)
c.2313-1_2313insTGCCCTACTATATCAA (n.2313-1_2313insTGCCCTACTATATCAA)
c.9213-1_9213insTGCCCTACTATATCAA (n.9213-1_9213insTGCCCTACTATATCAA)
n.244-1_244insTGCCCTACTATATCAA
c.9210-1_9210insTGCCCTACTATATCAA (n.9210-1_9210insTGCCCTACTATATCAA)
c.9222-1_9222insTGCCCTACTATATCAA (n.9222-1_9222insTGCCCTACTATATCAA)
c.9201-1_9201insTGCCCTACTATATCAA (n.9201-1_9201insTGCCCTACTATATCAA)
c.8856-1_8856insTGCCCTACTATATCAA (n.8856-1_8856insTGCCCTACTATATCAA)
c.5202-1_5202insTGCCCTACTATATCAA (n.5202-1_5202insTGCCCTACTATATCAA)
c.9096-1_9096insTGCCCTACTATATCAA (n.9096-1_9096insTGCCCTACTATATCAA)
c.9087-1_9087insTGCCCTACTATATCAA (n.9087-1_9087insTGCCCTACTATATCAA)
c.9102-1_9102insTGCCCTACTATATCAA (n.9102-1_9102insTGCCCTACTATATCAA)
c.3399-1_3399insTGCCCTACTATATCAA (n.3399-1_3399insTGCCCTACTATATCAA)
Xg.31261016_31261017insTTGATATAGTAGGGCACTTTGTTTGGCGAGATGGCTCTCTCCA2820291250DMDc.4071-1_4071insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.4071-1_4071insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.21-1_21insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.1845-1_1845insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
n.742-1_742insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.324-1_324insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.743-1_743insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.2717-1_2717insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
c.1080-1_1080insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.1080-1_1080insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9225-1_9225insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.5193-1_5193insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.-37-1_-37insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.-37-1_-37insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
n.2886-1_2886insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.155-1_155insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
c.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.1038-1_1038insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.2313-1_2313insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.2313-1_2313insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9213-1_9213insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9213-1_9213insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
n.244-1_244insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
c.9210-1_9210insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9210-1_9210insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9222-1_9222insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9222-1_9222insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9201-1_9201insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.8856-1_8856insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.8856-1_8856insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.5202-1_5202insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.5202-1_5202insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9096-1_9096insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9096-1_9096insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9087-1_9087insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9087-1_9087insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9102-1_9102insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9102-1_9102insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.3399-1_3399insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.3399-1_3399insGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
Xg.31261016_31261017insTTGATATAGTAGGGCACTTTGTTTGGCGAGATGGCTCTCTCCCA2820291252DMDc.4071-1_4071insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.4071-1_4071insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.21-1_21insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.21-1_21insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.1845-1_1845insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.1845-1_1845insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
n.742-1_742insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.324-1_324insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.743-1_743insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.2717-1_2717insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
c.1080-1_1080insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.1080-1_1080insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9225-1_9225insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9225-1_9225insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.5193-1_5193insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.5193-1_5193insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.-37-1_-37insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.-37-1_-37insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
n.2886-1_2886insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
n.155-1_155insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
c.1038-1_1038insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.1038-1_1038insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.2313-1_2313insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.2313-1_2313insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9213-1_9213insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9213-1_9213insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
n.244-1_244insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA
c.9210-1_9210insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9210-1_9210insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9222-1_9222insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9222-1_9222insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9201-1_9201insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9201-1_9201insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.8856-1_8856insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.8856-1_8856insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.5202-1_5202insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.5202-1_5202insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9096-1_9096insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9096-1_9096insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9087-1_9087insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9087-1_9087insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.9102-1_9102insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.9102-1_9102insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
c.3399-1_3399insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA (n.3399-1_3399insGGAGAGAGCCATCTCGCCAAACAAAGTGCCCTACTATATCAA)
Xg.31261017C>ACA412652572DMDc.4071-1G>T (n.4071-1G>T)
c.21-1G>T (n.21-1G>T)
c.1845-1G>T (n.1845-1G>T)
n.742-1G>T
n.324-1G>T
n.743-1G>T
n.2717-1G>T
c.1080-1G>T (n.1080-1G>T)
c.9225-1G>T (n.9225-1G>T)
c.5193-1G>T (n.5193-1G>T)
c.-37-1G>T (n.-37-1G>T)
n.2886-1G>T
n.155-1G>T
c.1038-1G>T (n.1038-1G>T)
c.2313-1G>T (n.2313-1G>T)
c.9213-1G>T (n.9213-1G>T)
n.244-1G>T
c.9210-1G>T (n.9210-1G>T)
c.9222-1G>T (n.9222-1G>T)
c.9201-1G>T (n.9201-1G>T)
c.8856-1G>T (n.8856-1G>T)
c.5202-1G>T (n.5202-1G>T)
c.9096-1G>T (n.9096-1G>T)
c.9087-1G>T (n.9087-1G>T)
c.9102-1G>T (n.9102-1G>T)
c.3399-1G>T (n.3399-1G>T)
 ClinVar
Xg.31261017C>GCA412652573DMDc.4071-1G>C (n.4071-1G>C)
c.21-1G>C (n.21-1G>C)
c.1845-1G>C (n.1845-1G>C)
n.742-1G>C
n.324-1G>C
n.743-1G>C
n.2717-1G>C
c.1080-1G>C (n.1080-1G>C)
c.9225-1G>C (n.9225-1G>C)
c.5193-1G>C (n.5193-1G>C)
c.-37-1G>C (n.-37-1G>C)
n.2886-1G>C
n.155-1G>C
c.1038-1G>C (n.1038-1G>C)
c.2313-1G>C (n.2313-1G>C)
c.9213-1G>C (n.9213-1G>C)
n.244-1G>C
c.9210-1G>C (n.9210-1G>C)
c.9222-1G>C (n.9222-1G>C)
c.9201-1G>C (n.9201-1G>C)
c.8856-1G>C (n.8856-1G>C)
c.5202-1G>C (n.5202-1G>C)
c.9096-1G>C (n.9096-1G>C)
c.9087-1G>C (n.9087-1G>C)
c.9102-1G>C (n.9102-1G>C)
c.3399-1G>C (n.3399-1G>C)
 ClinVar
Xg.31261017C>TCA412652574DMDc.4071-1G>A (n.4071-1G>A)
c.21-1G>A (n.21-1G>A)
c.1845-1G>A (n.1845-1G>A)
n.742-1G>A
n.324-1G>A
n.743-1G>A
n.2717-1G>A
c.1080-1G>A (n.1080-1G>A)
c.9225-1G>A (n.9225-1G>A)
c.5193-1G>A (n.5193-1G>A)
c.-37-1G>A (n.-37-1G>A)
n.2886-1G>A
n.155-1G>A
c.1038-1G>A (n.1038-1G>A)
c.2313-1G>A (n.2313-1G>A)
c.9213-1G>A (n.9213-1G>A)
n.244-1G>A
c.9210-1G>A (n.9210-1G>A)
c.9222-1G>A (n.9222-1G>A)
c.9201-1G>A (n.9201-1G>A)
c.8856-1G>A (n.8856-1G>A)
c.5202-1G>A (n.5202-1G>A)
c.9096-1G>A (n.9096-1G>A)
c.9087-1G>A (n.9087-1G>A)
c.9102-1G>A (n.9102-1G>A)
c.3399-1G>A (n.3399-1G>A)
Xg.31261018T>ACA412652577DMDc.4071-2A>T (n.4071-2A>T)
c.21-2A>T (n.21-2A>T)
c.1845-2A>T (n.1845-2A>T)
n.742-2A>T
n.324-2A>T
n.743-2A>T
n.2717-2A>T
c.1080-2A>T (n.1080-2A>T)
c.9225-2A>T (n.9225-2A>T)
c.5193-2A>T (n.5193-2A>T)
c.-37-2A>T (n.-37-2A>T)
n.2886-2A>T
n.155-2A>T
c.1038-2A>T (n.1038-2A>T)
c.2313-2A>T (n.2313-2A>T)
c.9213-2A>T (n.9213-2A>T)
n.244-2A>T
c.9210-2A>T (n.9210-2A>T)
c.9222-2A>T (n.9222-2A>T)
c.9201-2A>T (n.9201-2A>T)
c.8856-2A>T (n.8856-2A>T)
c.5202-2A>T (n.5202-2A>T)
c.9096-2A>T (n.9096-2A>T)
c.9087-2A>T (n.9087-2A>T)
c.9102-2A>T (n.9102-2A>T)
c.3399-2A>T (n.3399-2A>T)
 ClinVar dbSNP
Xg.31261018T>CCA412652575DMDc.4071-2A>G (n.4071-2A>G)
c.21-2A>G (n.21-2A>G)
c.1845-2A>G (n.1845-2A>G)
n.742-2A>G
n.324-2A>G
n.743-2A>G
n.2717-2A>G
c.1080-2A>G (n.1080-2A>G)
c.9225-2A>G (n.9225-2A>G)
c.5193-2A>G (n.5193-2A>G)
c.-37-2A>G (n.-37-2A>G)
n.2886-2A>G
n.155-2A>G
c.1038-2A>G (n.1038-2A>G)
c.2313-2A>G (n.2313-2A>G)
c.9213-2A>G (n.9213-2A>G)
n.244-2A>G
c.9210-2A>G (n.9210-2A>G)
c.9222-2A>G (n.9222-2A>G)
c.9201-2A>G (n.9201-2A>G)
c.8856-2A>G (n.8856-2A>G)
c.5202-2A>G (n.5202-2A>G)
c.9096-2A>G (n.9096-2A>G)
c.9087-2A>G (n.9087-2A>G)
c.9102-2A>G (n.9102-2A>G)
c.3399-2A>G (n.3399-2A>G)
Xg.31261018T>GCA412652576DMDc.4071-2A>C (n.4071-2A>C)
c.21-2A>C (n.21-2A>C)
c.1845-2A>C (n.1845-2A>C)
n.742-2A>C
n.324-2A>C
n.743-2A>C
n.2717-2A>C
c.1080-2A>C (n.1080-2A>C)
c.9225-2A>C (n.9225-2A>C)
c.5193-2A>C (n.5193-2A>C)
c.-37-2A>C (n.-37-2A>C)
n.2886-2A>C
n.155-2A>C
c.1038-2A>C (n.1038-2A>C)
c.2313-2A>C (n.2313-2A>C)
c.9213-2A>C (n.9213-2A>C)
n.244-2A>C
c.9210-2A>C (n.9210-2A>C)
c.9222-2A>C (n.9222-2A>C)
c.9201-2A>C (n.9201-2A>C)
c.8856-2A>C (n.8856-2A>C)
c.5202-2A>C (n.5202-2A>C)
c.9096-2A>C (n.9096-2A>C)
c.9087-2A>C (n.9087-2A>C)
c.9102-2A>C (n.9102-2A>C)
c.3399-2A>C (n.3399-2A>C)
Xg.31261018_31261019insTTGTTTGGCGCA2820291253DMDc.4071-3_4071-2insCGCCAAACAA (n.4071-3_4071-2insCGCCAAACAA)
c.21-3_21-2insCGCCAAACAA (n.21-3_21-2insCGCCAAACAA)
c.1845-3_1845-2insCGCCAAACAA (n.1845-3_1845-2insCGCCAAACAA)
n.742-3_742-2insCGCCAAACAA
n.324-3_324-2insCGCCAAACAA
n.743-3_743-2insCGCCAAACAA
n.2717-3_2717-2insCGCCAAACAA
c.1080-3_1080-2insCGCCAAACAA (n.1080-3_1080-2insCGCCAAACAA)
c.9225-3_9225-2insCGCCAAACAA (n.9225-3_9225-2insCGCCAAACAA)
c.5193-3_5193-2insCGCCAAACAA (n.5193-3_5193-2insCGCCAAACAA)
c.-37-3_-37-2insCGCCAAACAA (n.-37-3_-37-2insCGCCAAACAA)
n.2886-3_2886-2insCGCCAAACAA
n.155-3_155-2insCGCCAAACAA
c.1038-3_1038-2insCGCCAAACAA (n.1038-3_1038-2insCGCCAAACAA)
c.2313-3_2313-2insCGCCAAACAA (n.2313-3_2313-2insCGCCAAACAA)
c.9213-3_9213-2insCGCCAAACAA (n.9213-3_9213-2insCGCCAAACAA)
n.244-3_244-2insCGCCAAACAA
c.9210-3_9210-2insCGCCAAACAA (n.9210-3_9210-2insCGCCAAACAA)
c.9222-3_9222-2insCGCCAAACAA (n.9222-3_9222-2insCGCCAAACAA)
c.9201-3_9201-2insCGCCAAACAA (n.9201-3_9201-2insCGCCAAACAA)
c.8856-3_8856-2insCGCCAAACAA (n.8856-3_8856-2insCGCCAAACAA)
c.5202-3_5202-2insCGCCAAACAA (n.5202-3_5202-2insCGCCAAACAA)
c.9096-3_9096-2insCGCCAAACAA (n.9096-3_9096-2insCGCCAAACAA)
c.9087-3_9087-2insCGCCAAACAA (n.9087-3_9087-2insCGCCAAACAA)
c.9102-3_9102-2insCGCCAAACAA (n.9102-3_9102-2insCGCCAAACAA)
c.3399-3_3399-2insCGCCAAACAA (n.3399-3_3399-2insCGCCAAACAA)
Xg.31261025_31261031delCA2693387408DMDc.4071-9_4071-3del (n.4071-9_4071-3del)
c.21-9_21-3del (n.21-9_21-3del)
c.1845-9_1845-3del (n.1845-9_1845-3del)
n.742-9_742-3del
n.324-9_324-3del
n.743-9_743-3del
n.2717-9_2717-3del
c.1080-9_1080-3del (n.1080-9_1080-3del)
c.9225-9_9225-3del (n.9225-9_9225-3del)
c.5193-9_5193-3del (n.5193-9_5193-3del)
c.-37-9_-37-3del (n.-37-9_-37-3del)
n.2886-9_2886-3del
n.155-9_155-3del
c.1038-9_1038-3del (n.1038-9_1038-3del)
c.2313-9_2313-3del (n.2313-9_2313-3del)
c.9213-9_9213-3del (n.9213-9_9213-3del)
n.244-9_244-3del
c.9210-9_9210-3del (n.9210-9_9210-3del)
c.9222-9_9222-3del (n.9222-9_9222-3del)
c.9201-9_9201-3del (n.9201-9_9201-3del)
c.8856-9_8856-3del (n.8856-9_8856-3del)
c.5202-9_5202-3del (n.5202-9_5202-3del)
c.9096-9_9096-3del (n.9096-9_9096-3del)
c.9087-9_9087-3del (n.9087-9_9087-3del)
c.9102-9_9102-3del (n.9102-9_9102-3del)
c.3399-9_3399-3del (n.3399-9_3399-3del)
 gnomAD v4

Number of alleles fetched