Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32287525delCA2695232708DMDc.1136+5del (n.1136+5del)
c.6290+5del (n.6290+5del)
c.2258+5del (n.2258+5del)
c.6278+5del (n.6278+5del)
n.336-70461del
c.6266+5del (n.6266+5del)
c.5921+5del (n.5921+5del)
c.2267+5del (n.2267+5del)
c.6161+5del (n.6161+5del)
c.6152+5del (n.6152+5del)
c.6167+5del (n.6167+5del)
c.464+5del (n.464+5del)
Xg.32287525C=CA2422736395DMDc.1136+4G= (n.1136+4G=)
c.6290+4G= (n.6290+4G=)
c.2258+4G= (n.2258+4G=)
c.6278+4G= (n.6278+4G=)
n.336-70462G=
c.6266+4G= (n.6266+4G=)
c.5921+4G= (n.5921+4G=)
c.2267+4G= (n.2267+4G=)
c.6161+4G= (n.6161+4G=)
c.6152+4G= (n.6152+4G=)
c.6167+4G= (n.6167+4G=)
c.464+4G= (n.464+4G=)
Xg.32287525C>TCA641365385DMDc.1136+4G>A (n.1136+4G>A)
c.6290+4G>A (n.6290+4G>A)
c.2258+4G>A (n.2258+4G>A)
c.6278+4G>A (n.6278+4G>A)
n.336-70462G>A
c.6266+4G>A (n.6266+4G>A)
c.5921+4G>A (n.5921+4G>A)
c.2267+4G>A (n.2267+4G>A)
c.6161+4G>A (n.6161+4G>A)
c.6152+4G>A (n.6152+4G>A)
c.6167+4G>A (n.6167+4G>A)
c.464+4G>A (n.464+4G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287526T>CCA641365386DMDc.1136+3A>G (n.1136+3A>G)
c.6290+3A>G (n.6290+3A>G)
c.2258+3A>G (n.2258+3A>G)
c.6278+3A>G (n.6278+3A>G)
n.336-70463A>G
c.6266+3A>G (n.6266+3A>G)
c.5921+3A>G (n.5921+3A>G)
c.2267+3A>G (n.2267+3A>G)
c.6161+3A>G (n.6161+3A>G)
c.6152+3A>G (n.6152+3A>G)
c.6167+3A>G (n.6167+3A>G)
c.464+3A>G (n.464+3A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287526T=CA2422736396DMDc.1136+3A= (n.1136+3A=)
c.6290+3A= (n.6290+3A=)
c.2258+3A= (n.2258+3A=)
c.6278+3A= (n.6278+3A=)
n.336-70463A=
c.6266+3A= (n.6266+3A=)
c.5921+3A= (n.5921+3A=)
c.2267+3A= (n.2267+3A=)
c.6161+3A= (n.6161+3A=)
c.6152+3A= (n.6152+3A=)
c.6167+3A= (n.6167+3A=)
c.464+3A= (n.464+3A=)
Xg.32287527A=CA2422736397DMDc.1136+2T= (n.1136+2T=)
c.6290+2T= (n.6290+2T=)
c.2258+2T= (n.2258+2T=)
c.6278+2T= (n.6278+2T=)
n.336-70464T=
c.6266+2T= (n.6266+2T=)
c.5921+2T= (n.5921+2T=)
c.2267+2T= (n.2267+2T=)
c.6161+2T= (n.6161+2T=)
c.6152+2T= (n.6152+2T=)
c.6167+2T= (n.6167+2T=)
c.464+2T= (n.464+2T=)
Xg.32287527A>CCA412665478DMDc.1136+2T>G (n.1136+2T>G)
c.6290+2T>G (n.6290+2T>G)
c.2258+2T>G (n.2258+2T>G)
c.6278+2T>G (n.6278+2T>G)
n.336-70464T>G
c.6266+2T>G (n.6266+2T>G)
c.5921+2T>G (n.5921+2T>G)
c.2267+2T>G (n.2267+2T>G)
c.6161+2T>G (n.6161+2T>G)
c.6152+2T>G (n.6152+2T>G)
c.6167+2T>G (n.6167+2T>G)
c.464+2T>G (n.464+2T>G)
Xg.32287527A>GCA412665480DMDc.1136+2T>C (n.1136+2T>C)
c.6290+2T>C (n.6290+2T>C)
c.2258+2T>C (n.2258+2T>C)
c.6278+2T>C (n.6278+2T>C)
n.336-70464T>C
c.6266+2T>C (n.6266+2T>C)
c.5921+2T>C (n.5921+2T>C)
c.2267+2T>C (n.2267+2T>C)
c.6161+2T>C (n.6161+2T>C)
c.6152+2T>C (n.6152+2T>C)
c.6167+2T>C (n.6167+2T>C)
c.464+2T>C (n.464+2T>C)
Xg.32287527A>TCA412665482DMDc.1136+2T>A (n.1136+2T>A)
c.6290+2T>A (n.6290+2T>A)
c.2258+2T>A (n.2258+2T>A)
c.6278+2T>A (n.6278+2T>A)
n.336-70464T>A
c.6266+2T>A (n.6266+2T>A)
c.5921+2T>A (n.5921+2T>A)
c.2267+2T>A (n.2267+2T>A)
c.6161+2T>A (n.6161+2T>A)
c.6152+2T>A (n.6152+2T>A)
c.6167+2T>A (n.6167+2T>A)
c.464+2T>A (n.464+2T>A)
 ClinVar dbSNP
Xg.32287528C>ACA412665484DMDc.1136+1G>T (n.1136+1G>T)
c.6290+1G>T (n.6290+1G>T)
c.2258+1G>T (n.2258+1G>T)
c.6278+1G>T (n.6278+1G>T)
n.336-70465G>T
c.6266+1G>T (n.6266+1G>T)
c.5921+1G>T (n.5921+1G>T)
c.2267+1G>T (n.2267+1G>T)
c.6161+1G>T (n.6161+1G>T)
c.6152+1G>T (n.6152+1G>T)
c.6167+1G>T (n.6167+1G>T)
c.464+1G>T (n.464+1G>T)
Xg.32287528C=CA2422736398DMDc.1136+1G= (n.1136+1G=)
c.6290+1G= (n.6290+1G=)
c.2258+1G= (n.2258+1G=)
c.6278+1G= (n.6278+1G=)
n.336-70465G=
c.6266+1G= (n.6266+1G=)
c.5921+1G= (n.5921+1G=)
c.2267+1G= (n.2267+1G=)
c.6161+1G= (n.6161+1G=)
c.6152+1G= (n.6152+1G=)
c.6167+1G= (n.6167+1G=)
c.464+1G= (n.464+1G=)
Xg.32287528C>GCA10603583DMDc.1136+1G>C (n.1136+1G>C)
c.6290+1G>C (n.6290+1G>C)
c.2258+1G>C (n.2258+1G>C)
c.6278+1G>C (n.6278+1G>C)
n.336-70465G>C
c.6266+1G>C (n.6266+1G>C)
c.5921+1G>C (n.5921+1G>C)
c.2267+1G>C (n.2267+1G>C)
c.6161+1G>C (n.6161+1G>C)
c.6152+1G>C (n.6152+1G>C)
c.6167+1G>C (n.6167+1G>C)
c.464+1G>C (n.464+1G>C)
 ClinVar dbSNP
Xg.32287528C>TCA412665486DMDc.1136+1G>A (n.1136+1G>A)
c.6290+1G>A (n.6290+1G>A)
c.2258+1G>A (n.2258+1G>A)
c.6278+1G>A (n.6278+1G>A)
n.336-70465G>A
c.6266+1G>A (n.6266+1G>A)
c.5921+1G>A (n.5921+1G>A)
c.2267+1G>A (n.2267+1G>A)
c.6161+1G>A (n.6161+1G>A)
c.6152+1G>A (n.6152+1G>A)
c.6167+1G>A (n.6167+1G>A)
c.464+1G>A (n.464+1G>A)
Xg.32287529C>ACA412665488DMDc.1136G>T (p.Gly379Val)
c.6290G>T (p.Gly2097Val)
c.2258G>T (p.Gly753Val)
c.6278G>T (p.Gly2093Val)
n.336-70466G>T
c.6266G>T (p.Gly2089Val)
c.5921G>T (p.Gly1974Val)
c.2267G>T (p.Gly756Val)
c.6161G>T (p.Gly2054Val)
c.6152G>T (p.Gly2051Val)
c.6167G>T (p.Gly2056Val)
c.464G>T (p.Gly155Val)
 ClinVar
Xg.32287529C>GCA412665491DMDc.1136G>C (p.Gly379Ala)
c.6290G>C (p.Gly2097Ala)
c.2258G>C (p.Gly753Ala)
c.6278G>C (p.Gly2093Ala)
n.336-70466G>C
c.6266G>C (p.Gly2089Ala)
c.5921G>C (p.Gly1974Ala)
c.2267G>C (p.Gly756Ala)
c.6161G>C (p.Gly2054Ala)
c.6152G>C (p.Gly2051Ala)
c.6167G>C (p.Gly2056Ala)
c.464G>C (p.Gly155Ala)
Xg.32287529C>TCA412665493DMDc.1136G>A (p.Gly379Glu)
c.6290G>A (p.Gly2097Glu)
c.2258G>A (p.Gly753Glu)
c.6278G>A (p.Gly2093Glu)
n.336-70466G>A
c.6266G>A (p.Gly2089Glu)
c.5921G>A (p.Gly1974Glu)
c.2267G>A (p.Gly756Glu)
c.6161G>A (p.Gly2054Glu)
c.6152G>A (p.Gly2051Glu)
c.6167G>A (p.Gly2056Glu)
c.464G>A (p.Gly155Glu)
Xg.32287530C>ACA412665497DMDc.1135G>T (p.Gly379Trp)
c.6289G>T (p.Gly2097Trp)
c.2257G>T (p.Gly753Trp)
c.6277G>T (p.Gly2093Trp)
n.336-70467G>T
c.6265G>T (p.Gly2089Trp)
c.5920G>T (p.Gly1974Trp)
c.2266G>T (p.Gly756Trp)
c.6160G>T (p.Gly2054Trp)
c.6151G>T (p.Gly2051Trp)
c.6166G>T (p.Gly2056Trp)
c.463G>T (p.Gly155Trp)
 gnomAD v4
Xg.32287530C=CA2422736399DMDc.1135G= (p.Gly379=)
c.6289G= (p.Gly2097=)
c.2257G= (p.Gly753=)
c.6277G= (p.Gly2093=)
n.336-70467G=
c.6265G= (p.Gly2089=)
c.5920G= (p.Gly1974=)
c.2266G= (p.Gly756=)
c.6160G= (p.Gly2054=)
c.6151G= (p.Gly2051=)
c.6166G= (p.Gly2056=)
c.463G= (p.Gly155=)
Xg.32287530C>GCA328529823DMDc.1135G>C (p.Gly379Arg)
c.6289G>C (p.Gly2097Arg)
c.2257G>C (p.Gly753Arg)
c.6277G>C (p.Gly2093Arg)
n.336-70467G>C
c.6265G>C (p.Gly2089Arg)
c.5920G>C (p.Gly1974Arg)
c.2266G>C (p.Gly756Arg)
c.6160G>C (p.Gly2054Arg)
c.6151G>C (p.Gly2051Arg)
c.6166G>C (p.Gly2056Arg)
c.463G>C (p.Gly155Arg)
 dbSNP
Xg.32287530C>TCA10378502DMDc.1135G>A (p.Gly379Arg)
c.6289G>A (p.Gly2097Arg)
c.2257G>A (p.Gly753Arg)
c.6277G>A (p.Gly2093Arg)
n.336-70467G>A
c.6265G>A (p.Gly2089Arg)
c.5920G>A (p.Gly1974Arg)
c.2266G>A (p.Gly756Arg)
c.6160G>A (p.Gly2054Arg)
c.6151G>A (p.Gly2051Arg)
c.6166G>A (p.Gly2056Arg)
c.463G>A (p.Gly155Arg)
 dbSNP ExAC gnomAD v2
Xg.32287531T>ACA412665504DMDc.1134A>T (p.Gln378His)
c.6288A>T (p.Gln2096His)
c.2256A>T (p.Gln752His)
c.6276A>T (p.Gln2092His)
n.336-70468A>T
c.6264A>T (p.Gln2088His)
c.5919A>T (p.Gln1973His)
c.2265A>T (p.Gln755His)
c.6159A>T (p.Gln2053His)
c.6150A>T (p.Gln2050His)
c.6165A>T (p.Gln2055His)
c.462A>T (p.Gln154His)
Xg.32287531T>CCA515860620DMDc.1134A>G (p.Gln378=)
c.6288A>G (p.Gln2096=)
c.2256A>G (p.Gln752=)
c.6276A>G (p.Gln2092=)
n.336-70468A>G
c.6264A>G (p.Gln2088=)
c.5919A>G (p.Gln1973=)
c.2265A>G (p.Gln755=)
c.6159A>G (p.Gln2053=)
c.6150A>G (p.Gln2050=)
c.6165A>G (p.Gln2055=)
c.462A>G (p.Gln154=)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287531T>GCA412665502DMDc.1134A>C (p.Gln378His)
c.6288A>C (p.Gln2096His)
c.2256A>C (p.Gln752His)
c.6276A>C (p.Gln2092His)
n.336-70468A>C
c.6264A>C (p.Gln2088His)
c.5919A>C (p.Gln1973His)
c.2265A>C (p.Gln755His)
c.6159A>C (p.Gln2053His)
c.6150A>C (p.Gln2050His)
c.6165A>C (p.Gln2055His)
c.462A>C (p.Gln154His)
Xg.32287532T>ACA412665506DMDc.1133A>T (p.Gln378Leu)
c.6287A>T (p.Gln2096Leu)
c.2255A>T (p.Gln752Leu)
c.6275A>T (p.Gln2092Leu)
n.336-70469A>T
c.6263A>T (p.Gln2088Leu)
c.5918A>T (p.Gln1973Leu)
c.2264A>T (p.Gln755Leu)
c.6158A>T (p.Gln2053Leu)
c.6149A>T (p.Gln2050Leu)
c.6164A>T (p.Gln2055Leu)
c.461A>T (p.Gln154Leu)
Xg.32287532T>CCA412665508DMDc.1133A>G (p.Gln378Arg)
c.6287A>G (p.Gln2096Arg)
c.2255A>G (p.Gln752Arg)
c.6275A>G (p.Gln2092Arg)
n.336-70469A>G
c.6263A>G (p.Gln2088Arg)
c.5918A>G (p.Gln1973Arg)
c.2264A>G (p.Gln755Arg)
c.6158A>G (p.Gln2053Arg)
c.6149A>G (p.Gln2050Arg)
c.6164A>G (p.Gln2055Arg)
c.461A>G (p.Gln154Arg)
Xg.32287532T>GCA412665510DMDc.1133A>C (p.Gln378Pro)
c.6287A>C (p.Gln2096Pro)
c.2255A>C (p.Gln752Pro)
c.6275A>C (p.Gln2092Pro)
n.336-70469A>C
c.6263A>C (p.Gln2088Pro)
c.5918A>C (p.Gln1973Pro)
c.2264A>C (p.Gln755Pro)
c.6158A>C (p.Gln2053Pro)
c.6149A>C (p.Gln2050Pro)
c.6164A>C (p.Gln2055Pro)
c.461A>C (p.Gln154Pro)
Xg.32287533G>ACA412665515DMDc.1132C>T (p.Gln378Ter)
c.6286C>T (p.Gln2096Ter)
c.2254C>T (p.Gln752Ter)
c.6274C>T (p.Gln2092Ter)
n.336-70470C>T
c.6262C>T (p.Gln2088Ter)
c.5917C>T (p.Gln1973Ter)
c.2263C>T (p.Gln755Ter)
c.6157C>T (p.Gln2053Ter)
c.6148C>T (p.Gln2050Ter)
c.6163C>T (p.Gln2055Ter)
c.460C>T (p.Gln154Ter)
 ClinVar dbSNP
Xg.32287533G>CCA412665517DMDc.1132C>G (p.Gln378Glu)
c.6286C>G (p.Gln2096Glu)
c.2254C>G (p.Gln752Glu)
c.6274C>G (p.Gln2092Glu)
n.336-70470C>G
c.6262C>G (p.Gln2088Glu)
c.5917C>G (p.Gln1973Glu)
c.2263C>G (p.Gln755Glu)
c.6157C>G (p.Gln2053Glu)
c.6148C>G (p.Gln2050Glu)
c.6163C>G (p.Gln2055Glu)
c.460C>G (p.Gln154Glu)
Xg.32287533G>TCA412665519DMDc.1132C>A (p.Gln378Lys)
c.6286C>A (p.Gln2096Lys)
c.2254C>A (p.Gln752Lys)
c.6274C>A (p.Gln2092Lys)
n.336-70470C>A
c.6262C>A (p.Gln2088Lys)
c.5917C>A (p.Gln1973Lys)
c.2263C>A (p.Gln755Lys)
c.6157C>A (p.Gln2053Lys)
c.6148C>A (p.Gln2050Lys)
c.6163C>A (p.Gln2055Lys)
c.460C>A (p.Gln154Lys)
 gnomAD v4
Xg.32287534T>ACA515860622DMDc.1131A>T (p.Arg377=)
c.6285A>T (p.Arg2095=)
c.2253A>T (p.Arg751=)
c.6273A>T (p.Arg2091=)
n.336-70471A>T
c.6261A>T (p.Arg2087=)
c.5916A>T (p.Arg1972=)
c.2262A>T (p.Arg754=)
c.6156A>T (p.Arg2052=)
c.6147A>T (p.Arg2049=)
c.6162A>T (p.Arg2054=)
c.459A>T (p.Arg153=)
Xg.32287534T>CCA328529824DMDc.1131A>G (p.Arg377=)
c.6285A>G (p.Arg2095=)
c.2253A>G (p.Arg751=)
c.6273A>G (p.Arg2091=)
n.336-70471A>G
c.6261A>G (p.Arg2087=)
c.5916A>G (p.Arg1972=)
c.2262A>G (p.Arg754=)
c.6156A>G (p.Arg2052=)
c.6147A>G (p.Arg2049=)
c.6162A>G (p.Arg2054=)
c.459A>G (p.Arg153=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287534T>GCA515860621DMDc.1131A>C (p.Arg377=)
c.6285A>C (p.Arg2095=)
c.2253A>C (p.Arg751=)
c.6273A>C (p.Arg2091=)
n.336-70471A>C
c.6261A>C (p.Arg2087=)
c.5916A>C (p.Arg1972=)
c.2262A>C (p.Arg754=)
c.6156A>C (p.Arg2052=)
c.6147A>C (p.Arg2049=)
c.6162A>C (p.Arg2054=)
c.459A>C (p.Arg153=)
Xg.32287534T=CA2422736400DMDc.1131A= (p.Arg377=)
c.6285A= (p.Arg2095=)
c.2253A= (p.Arg751=)
c.6273A= (p.Arg2091=)
n.336-70471A=
c.6261A= (p.Arg2087=)
c.5916A= (p.Arg1972=)
c.2262A= (p.Arg754=)
c.6156A= (p.Arg2052=)
c.6147A= (p.Arg2049=)
c.6162A= (p.Arg2054=)
c.459A= (p.Arg153=)
Xg.32287535C>ACA10378503DMDc.1130G>T (p.Arg377Leu)
c.6284G>T (p.Arg2095Leu)
c.2252G>T (p.Arg751Leu)
c.6272G>T (p.Arg2091Leu)
n.336-70472G>T
c.6260G>T (p.Arg2087Leu)
c.5915G>T (p.Arg1972Leu)
c.2261G>T (p.Arg754Leu)
c.6155G>T (p.Arg2052Leu)
c.6146G>T (p.Arg2049Leu)
c.6161G>T (p.Arg2054Leu)
c.458G>T (p.Arg153Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287535C=CA2422736401DMDc.1130G= (p.Arg377=)
c.6284G= (p.Arg2095=)
c.2252G= (p.Arg751=)
c.6272G= (p.Arg2091=)
n.336-70472G=
c.6260G= (p.Arg2087=)
c.5915G= (p.Arg1972=)
c.2261G= (p.Arg754=)
c.6155G= (p.Arg2052=)
c.6146G= (p.Arg2049=)
c.6161G= (p.Arg2054=)
c.458G= (p.Arg153=)
Xg.32287535C>GCA412665524DMDc.1130G>C (p.Arg377Pro)
c.6284G>C (p.Arg2095Pro)
c.2252G>C (p.Arg751Pro)
c.6272G>C (p.Arg2091Pro)
n.336-70472G>C
c.6260G>C (p.Arg2087Pro)
c.5915G>C (p.Arg1972Pro)
c.2261G>C (p.Arg754Pro)
c.6155G>C (p.Arg2052Pro)
c.6146G>C (p.Arg2049Pro)
c.6161G>C (p.Arg2054Pro)
c.458G>C (p.Arg153Pro)
Xg.32287535C>TCA412665526DMDc.1130G>A (p.Arg377Gln)
c.6284G>A (p.Arg2095Gln)
c.2252G>A (p.Arg751Gln)
c.6272G>A (p.Arg2091Gln)
n.336-70472G>A
c.6260G>A (p.Arg2087Gln)
c.5915G>A (p.Arg1972Gln)
c.2261G>A (p.Arg754Gln)
c.6155G>A (p.Arg2052Gln)
c.6146G>A (p.Arg2049Gln)
c.6161G>A (p.Arg2054Gln)
c.458G>A (p.Arg153Gln)
 gnomAD v4
Xg.32287536G>ACA267104DMDc.1129C>T (p.Arg377Ter)
c.6283C>T (p.Arg2095Ter)
c.2251C>T (p.Arg751Ter)
c.6271C>T (p.Arg2091Ter)
n.336-70473C>T
c.6259C>T (p.Arg2087Ter)
c.5914C>T (p.Arg1972Ter)
c.2260C>T (p.Arg754Ter)
c.6154C>T (p.Arg2052Ter)
c.6145C>T (p.Arg2049Ter)
c.6160C>T (p.Arg2054Ter)
c.457C>T (p.Arg153Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287536G>CCA412665528DMDc.1129C>G (p.Arg377Gly)
c.6283C>G (p.Arg2095Gly)
c.2251C>G (p.Arg751Gly)
c.6271C>G (p.Arg2091Gly)
n.336-70473C>G
c.6259C>G (p.Arg2087Gly)
c.5914C>G (p.Arg1972Gly)
c.2260C>G (p.Arg754Gly)
c.6154C>G (p.Arg2052Gly)
c.6145C>G (p.Arg2049Gly)
c.6160C>G (p.Arg2054Gly)
c.457C>G (p.Arg153Gly)
 gnomAD v4
Xg.32287536G=CA2422736402DMDc.1129C= (p.Arg377=)
c.6283C= (p.Arg2095=)
c.2251C= (p.Arg751=)
c.6271C= (p.Arg2091=)
n.336-70473C=
c.6259C= (p.Arg2087=)
c.5914C= (p.Arg1972=)
c.2260C= (p.Arg754=)
c.6154C= (p.Arg2052=)
c.6145C= (p.Arg2049=)
c.6160C= (p.Arg2054=)
c.457C= (p.Arg153=)
Xg.32287536G>TCA10378504DMDc.1129C>A (p.Arg377=)
c.6283C>A (p.Arg2095=)
c.2251C>A (p.Arg751=)
c.6271C>A (p.Arg2091=)
n.336-70473C>A
c.6259C>A (p.Arg2087=)
c.5914C>A (p.Arg1972=)
c.2260C>A (p.Arg754=)
c.6154C>A (p.Arg2052=)
c.6145C>A (p.Arg2049=)
c.6160C>A (p.Arg2054=)
c.457C>A (p.Arg153=)
 ClinVar dbSNP ExAC gnomAD v2
Xg.32287537G>ACA515860623DMDc.1128C>T (p.Asp376=)
c.6282C>T (p.Asp2094=)
c.2250C>T (p.Asp750=)
c.6270C>T (p.Asp2090=)
n.336-70474C>T
c.6258C>T (p.Asp2086=)
c.5913C>T (p.Asp1971=)
c.2259C>T (p.Asp753=)
c.6153C>T (p.Asp2051=)
c.6144C>T (p.Asp2048=)
c.6159C>T (p.Asp2053=)
c.456C>T (p.Asp152=)
Xg.32287537G>CCA412665542DMDc.1128C>G (p.Asp376Glu)
c.6282C>G (p.Asp2094Glu)
c.2250C>G (p.Asp750Glu)
c.6270C>G (p.Asp2090Glu)
n.336-70474C>G
c.6258C>G (p.Asp2086Glu)
c.5913C>G (p.Asp1971Glu)
c.2259C>G (p.Asp753Glu)
c.6153C>G (p.Asp2051Glu)
c.6144C>G (p.Asp2048Glu)
c.6159C>G (p.Asp2053Glu)
c.456C>G (p.Asp152Glu)
Xg.32287537G>TCA412665536DMDc.1128C>A (p.Asp376Glu)
c.6282C>A (p.Asp2094Glu)
c.2250C>A (p.Asp750Glu)
c.6270C>A (p.Asp2090Glu)
n.336-70474C>A
c.6258C>A (p.Asp2086Glu)
c.5913C>A (p.Asp1971Glu)
c.2259C>A (p.Asp753Glu)
c.6153C>A (p.Asp2051Glu)
c.6144C>A (p.Asp2048Glu)
c.6159C>A (p.Asp2053Glu)
c.456C>A (p.Asp152Glu)
Xg.32287538T>ACA412665545DMDc.1127A>T (p.Asp376Val)
c.6281A>T (p.Asp2094Val)
c.2249A>T (p.Asp750Val)
c.6269A>T (p.Asp2090Val)
n.336-70475A>T
c.6257A>T (p.Asp2086Val)
c.5912A>T (p.Asp1971Val)
c.2258A>T (p.Asp753Val)
c.6152A>T (p.Asp2051Val)
c.6143A>T (p.Asp2048Val)
c.6158A>T (p.Asp2053Val)
c.455A>T (p.Asp152Val)
Xg.32287538T>CCA412665547DMDc.1127A>G (p.Asp376Gly)
c.6281A>G (p.Asp2094Gly)
c.2249A>G (p.Asp750Gly)
c.6269A>G (p.Asp2090Gly)
n.336-70475A>G
c.6257A>G (p.Asp2086Gly)
c.5912A>G (p.Asp1971Gly)
c.2258A>G (p.Asp753Gly)
c.6152A>G (p.Asp2051Gly)
c.6143A>G (p.Asp2048Gly)
c.6158A>G (p.Asp2053Gly)
c.455A>G (p.Asp152Gly)
Xg.32287538T>GCA412665550DMDc.1127A>C (p.Asp376Ala)
c.6281A>C (p.Asp2094Ala)
c.2249A>C (p.Asp750Ala)
c.6269A>C (p.Asp2090Ala)
n.336-70475A>C
c.6257A>C (p.Asp2086Ala)
c.5912A>C (p.Asp1971Ala)
c.2258A>C (p.Asp753Ala)
c.6152A>C (p.Asp2051Ala)
c.6143A>C (p.Asp2048Ala)
c.6158A>C (p.Asp2053Ala)
c.455A>C (p.Asp152Ala)
Xg.32287539C>ACA412665554DMDc.1126G>T (p.Asp376Tyr)
c.6280G>T (p.Asp2094Tyr)
c.2248G>T (p.Asp750Tyr)
c.6268G>T (p.Asp2090Tyr)
n.336-70476G>T
c.6256G>T (p.Asp2086Tyr)
c.5911G>T (p.Asp1971Tyr)
c.2257G>T (p.Asp753Tyr)
c.6151G>T (p.Asp2051Tyr)
c.6142G>T (p.Asp2048Tyr)
c.6157G>T (p.Asp2053Tyr)
c.454G>T (p.Asp152Tyr)
Xg.32287539C>GCA412665556DMDc.1126G>C (p.Asp376His)
c.6280G>C (p.Asp2094His)
c.2248G>C (p.Asp750His)
c.6268G>C (p.Asp2090His)
n.336-70476G>C
c.6256G>C (p.Asp2086His)
c.5911G>C (p.Asp1971His)
c.2257G>C (p.Asp753His)
c.6151G>C (p.Asp2051His)
c.6142G>C (p.Asp2048His)
c.6157G>C (p.Asp2053His)
c.454G>C (p.Asp152His)
Xg.32287539C>TCA412665558DMDc.1126G>A (p.Asp376Asn)
c.6280G>A (p.Asp2094Asn)
c.2248G>A (p.Asp750Asn)
c.6268G>A (p.Asp2090Asn)
n.336-70476G>A
c.6256G>A (p.Asp2086Asn)
c.5911G>A (p.Asp1971Asn)
c.2257G>A (p.Asp753Asn)
c.6151G>A (p.Asp2051Asn)
c.6142G>A (p.Asp2048Asn)
c.6157G>A (p.Asp2053Asn)
c.454G>A (p.Asp152Asn)
 ClinVar COSMIC COSMIC COSMIC COSMIC
Xg.32287540C>ACA412665561DMDc.1125G>T (p.Lys375Asn)
c.6279G>T (p.Lys2093Asn)
c.2247G>T (p.Lys749Asn)
c.6267G>T (p.Lys2089Asn)
n.336-70477G>T
c.6255G>T (p.Lys2085Asn)
c.5910G>T (p.Lys1970Asn)
c.2256G>T (p.Lys752Asn)
c.6150G>T (p.Lys2050Asn)
c.6141G>T (p.Lys2047Asn)
c.6156G>T (p.Lys2052Asn)
c.453G>T (p.Lys151Asn)
 dbSNP
Xg.32287540C=CA2422736403DMDc.1125G= (p.Lys375=)
c.6279G= (p.Lys2093=)
c.2247G= (p.Lys749=)
c.6267G= (p.Lys2089=)
n.336-70477G=
c.6255G= (p.Lys2085=)
c.5910G= (p.Lys1970=)
c.2256G= (p.Lys752=)
c.6150G= (p.Lys2050=)
c.6141G= (p.Lys2047=)
c.6156G= (p.Lys2052=)
c.453G= (p.Lys151=)
Xg.32287540C>GCA412665564DMDc.1125G>C (p.Lys375Asn)
c.6279G>C (p.Lys2093Asn)
c.2247G>C (p.Lys749Asn)
c.6267G>C (p.Lys2089Asn)
n.336-70477G>C
c.6255G>C (p.Lys2085Asn)
c.5910G>C (p.Lys1970Asn)
c.2256G>C (p.Lys752Asn)
c.6150G>C (p.Lys2050Asn)
c.6141G>C (p.Lys2047Asn)
c.6156G>C (p.Lys2052Asn)
c.453G>C (p.Lys151Asn)
Xg.32287540C>TCA515860624DMDc.1125G>A (p.Lys375=)
c.6279G>A (p.Lys2093=)
c.2247G>A (p.Lys749=)
c.6267G>A (p.Lys2089=)
n.336-70477G>A
c.6255G>A (p.Lys2085=)
c.5910G>A (p.Lys1970=)
c.2256G>A (p.Lys752=)
c.6150G>A (p.Lys2050=)
c.6141G>A (p.Lys2047=)
c.6156G>A (p.Lys2052=)
c.453G>A (p.Lys151=)
Xg.32287541T>ACA412665567DMDc.1124A>T (p.Lys375Met)
c.6278A>T (p.Lys2093Met)
c.2246A>T (p.Lys749Met)
c.6266A>T (p.Lys2089Met)
n.336-70478A>T
c.6254A>T (p.Lys2085Met)
c.5909A>T (p.Lys1970Met)
c.2255A>T (p.Lys752Met)
c.6149A>T (p.Lys2050Met)
c.6140A>T (p.Lys2047Met)
c.6155A>T (p.Lys2052Met)
c.452A>T (p.Lys151Met)
Xg.32287541T>CCA412665569DMDc.1124A>G (p.Lys375Arg)
c.6278A>G (p.Lys2093Arg)
c.2246A>G (p.Lys749Arg)
c.6266A>G (p.Lys2089Arg)
n.336-70478A>G
c.6254A>G (p.Lys2085Arg)
c.5909A>G (p.Lys1970Arg)
c.2255A>G (p.Lys752Arg)
c.6149A>G (p.Lys2050Arg)
c.6140A>G (p.Lys2047Arg)
c.6155A>G (p.Lys2052Arg)
c.452A>G (p.Lys151Arg)
 gnomAD v4
Xg.32287541T>GCA412665572DMDc.1124A>C (p.Lys375Thr)
c.6278A>C (p.Lys2093Thr)
c.2246A>C (p.Lys749Thr)
c.6266A>C (p.Lys2089Thr)
n.336-70478A>C
c.6254A>C (p.Lys2085Thr)
c.5909A>C (p.Lys1970Thr)
c.2255A>C (p.Lys752Thr)
c.6149A>C (p.Lys2050Thr)
c.6140A>C (p.Lys2047Thr)
c.6155A>C (p.Lys2052Thr)
c.452A>C (p.Lys151Thr)
Xg.32287542T>ACA412665576DMDc.1123A>T (p.Lys375Ter)
c.6277A>T (p.Lys2093Ter)
c.2245A>T (p.Lys749Ter)
c.6265A>T (p.Lys2089Ter)
n.336-70479A>T
c.6253A>T (p.Lys2085Ter)
c.5908A>T (p.Lys1970Ter)
c.2254A>T (p.Lys752Ter)
c.6148A>T (p.Lys2050Ter)
c.6139A>T (p.Lys2047Ter)
c.6154A>T (p.Lys2052Ter)
c.451A>T (p.Lys151Ter)
 dbSNP
Xg.32287542T>CCA412665579DMDc.1123A>G (p.Lys375Glu)
c.6277A>G (p.Lys2093Glu)
c.2245A>G (p.Lys749Glu)
c.6265A>G (p.Lys2089Glu)
n.336-70479A>G
c.6253A>G (p.Lys2085Glu)
c.5908A>G (p.Lys1970Glu)
c.2254A>G (p.Lys752Glu)
c.6148A>G (p.Lys2050Glu)
c.6139A>G (p.Lys2047Glu)
c.6154A>G (p.Lys2052Glu)
c.451A>G (p.Lys151Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.32287542T>GCA412665580DMDc.1123A>C (p.Lys375Gln)
c.6277A>C (p.Lys2093Gln)
c.2245A>C (p.Lys749Gln)
c.6265A>C (p.Lys2089Gln)
n.336-70479A>C
c.6253A>C (p.Lys2085Gln)
c.5908A>C (p.Lys1970Gln)
c.2254A>C (p.Lys752Gln)
c.6148A>C (p.Lys2050Gln)
c.6139A>C (p.Lys2047Gln)
c.6154A>C (p.Lys2052Gln)
c.451A>C (p.Lys151Gln)
Xg.32287542T=CA2422736404DMDc.1123A= (p.Lys375=)
c.6277A= (p.Lys2093=)
c.2245A= (p.Lys749=)
c.6265A= (p.Lys2089=)
n.336-70479A=
c.6253A= (p.Lys2085=)
c.5908A= (p.Lys1970=)
c.2254A= (p.Lys752=)
c.6148A= (p.Lys2050=)
c.6139A= (p.Lys2047=)
c.6154A= (p.Lys2052=)
c.451A= (p.Lys151=)
Xg.32287543G>ACA515860625DMDc.1122C>T (p.Tyr374=)
c.6276C>T (p.Tyr2092=)
c.2244C>T (p.Tyr748=)
c.6264C>T (p.Tyr2088=)
n.336-70480C>T
c.6252C>T (p.Tyr2084=)
c.5907C>T (p.Tyr1969=)
c.2253C>T (p.Tyr751=)
c.6147C>T (p.Tyr2049=)
c.6138C>T (p.Tyr2046=)
c.6153C>T (p.Tyr2051=)
c.450C>T (p.Tyr150=)
 ClinVar gnomAD v4
Xg.32287543G>CCA412665581DMDc.1122C>G (p.Tyr374Ter)
c.6276C>G (p.Tyr2092Ter)
c.2244C>G (p.Tyr748Ter)
c.6264C>G (p.Tyr2088Ter)
n.336-70480C>G
c.6252C>G (p.Tyr2084Ter)
c.5907C>G (p.Tyr1969Ter)
c.2253C>G (p.Tyr751Ter)
c.6147C>G (p.Tyr2049Ter)
c.6138C>G (p.Tyr2046Ter)
c.6153C>G (p.Tyr2051Ter)
c.450C>G (p.Tyr150Ter)
 ClinVar dbSNP
Xg.32287543G=CA2422736405DMDc.1122C= (p.Tyr374=)
c.6276C= (p.Tyr2092=)
c.2244C= (p.Tyr748=)
c.6264C= (p.Tyr2088=)
n.336-70480C=
c.6252C= (p.Tyr2084=)
c.5907C= (p.Tyr1969=)
c.2253C= (p.Tyr751=)
c.6147C= (p.Tyr2049=)
c.6138C= (p.Tyr2046=)
c.6153C= (p.Tyr2051=)
c.450C= (p.Tyr150=)
Xg.32287543G>TCA412665582DMDc.1122C>A (p.Tyr374Ter)
c.6276C>A (p.Tyr2092Ter)
c.2244C>A (p.Tyr748Ter)
c.6264C>A (p.Tyr2088Ter)
n.336-70480C>A
c.6252C>A (p.Tyr2084Ter)
c.5907C>A (p.Tyr1969Ter)
c.2253C>A (p.Tyr751Ter)
c.6147C>A (p.Tyr2049Ter)
c.6138C>A (p.Tyr2046Ter)
c.6153C>A (p.Tyr2051Ter)
c.450C>A (p.Tyr150Ter)
Xg.32287544T>ACA412665583DMDc.1121A>T (p.Tyr374Phe)
c.6275A>T (p.Tyr2092Phe)
c.2243A>T (p.Tyr748Phe)
c.6263A>T (p.Tyr2088Phe)
n.336-70481A>T
c.6251A>T (p.Tyr2084Phe)
c.5906A>T (p.Tyr1969Phe)
c.2252A>T (p.Tyr751Phe)
c.6146A>T (p.Tyr2049Phe)
c.6137A>T (p.Tyr2046Phe)
c.6152A>T (p.Tyr2051Phe)
c.449A>T (p.Tyr150Phe)
Xg.32287544T>CCA10378505DMDc.1121A>G (p.Tyr374Cys)
c.6275A>G (p.Tyr2092Cys)
c.2243A>G (p.Tyr748Cys)
c.6263A>G (p.Tyr2088Cys)
n.336-70481A>G
c.6251A>G (p.Tyr2084Cys)
c.5906A>G (p.Tyr1969Cys)
c.2252A>G (p.Tyr751Cys)
c.6146A>G (p.Tyr2049Cys)
c.6137A>G (p.Tyr2046Cys)
c.6152A>G (p.Tyr2051Cys)
c.449A>G (p.Tyr150Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287544T>GCA412665587DMDc.1121A>C (p.Tyr374Ser)
c.6275A>C (p.Tyr2092Ser)
c.2243A>C (p.Tyr748Ser)
c.6263A>C (p.Tyr2088Ser)
n.336-70481A>C
c.6251A>C (p.Tyr2084Ser)
c.5906A>C (p.Tyr1969Ser)
c.2252A>C (p.Tyr751Ser)
c.6146A>C (p.Tyr2049Ser)
c.6137A>C (p.Tyr2046Ser)
c.6152A>C (p.Tyr2051Ser)
c.449A>C (p.Tyr150Ser)
 gnomAD v4
Xg.32287544T=CA2422736406DMDc.1121A= (p.Tyr374=)
c.6275A= (p.Tyr2092=)
c.2243A= (p.Tyr748=)
c.6263A= (p.Tyr2088=)
n.336-70481A=
c.6251A= (p.Tyr2084=)
c.5906A= (p.Tyr1969=)
c.2252A= (p.Tyr751=)
c.6146A= (p.Tyr2049=)
c.6137A= (p.Tyr2046=)
c.6152A= (p.Tyr2051=)
c.449A= (p.Tyr150=)
Xg.32287545A>CCA412665590DMDc.1120T>G (p.Tyr374Asp)
c.6274T>G (p.Tyr2092Asp)
c.2242T>G (p.Tyr748Asp)
c.6262T>G (p.Tyr2088Asp)
n.336-70482T>G
c.6250T>G (p.Tyr2084Asp)
c.5905T>G (p.Tyr1969Asp)
c.2251T>G (p.Tyr751Asp)
c.6145T>G (p.Tyr2049Asp)
c.6136T>G (p.Tyr2046Asp)
c.6151T>G (p.Tyr2051Asp)
c.448T>G (p.Tyr150Asp)
Xg.32287545A>GCA412665593DMDc.1120T>C (p.Tyr374His)
c.6274T>C (p.Tyr2092His)
c.2242T>C (p.Tyr748His)
c.6262T>C (p.Tyr2088His)
n.336-70482T>C
c.6250T>C (p.Tyr2084His)
c.5905T>C (p.Tyr1969His)
c.2251T>C (p.Tyr751His)
c.6145T>C (p.Tyr2049His)
c.6136T>C (p.Tyr2046His)
c.6151T>C (p.Tyr2051His)
c.448T>C (p.Tyr150His)
Xg.32287545A>TCA412665596DMDc.1120T>A (p.Tyr374Asn)
c.6274T>A (p.Tyr2092Asn)
c.2242T>A (p.Tyr748Asn)
c.6262T>A (p.Tyr2088Asn)
n.336-70482T>A
c.6250T>A (p.Tyr2084Asn)
c.5905T>A (p.Tyr1969Asn)
c.2251T>A (p.Tyr751Asn)
c.6145T>A (p.Tyr2049Asn)
c.6136T>A (p.Tyr2046Asn)
c.6151T>A (p.Tyr2051Asn)
c.448T>A (p.Tyr150Asn)
Xg.32287546C>ACA412665599DMDc.1119G>T (p.Met373Ile)
c.6273G>T (p.Met2091Ile)
c.2241G>T (p.Met747Ile)
c.6261G>T (p.Met2087Ile)
n.336-70483G>T
c.6249G>T (p.Met2083Ile)
c.5904G>T (p.Met1968Ile)
c.2250G>T (p.Met750Ile)
c.6144G>T (p.Met2048Ile)
c.6135G>T (p.Met2045Ile)
c.6150G>T (p.Met2050Ile)
c.447G>T (p.Met149Ile)
Xg.32287546C=CA2422736407DMDc.1119G= (p.Met373=)
c.6273G= (p.Met2091=)
c.2241G= (p.Met747=)
c.6261G= (p.Met2087=)
n.336-70483G=
c.6249G= (p.Met2083=)
c.5904G= (p.Met1968=)
c.2250G= (p.Met750=)
c.6144G= (p.Met2048=)
c.6135G= (p.Met2045=)
c.6150G= (p.Met2050=)
c.447G= (p.Met149=)
Xg.32287546C>GCA412665601DMDc.1119G>C (p.Met373Ile)
c.6273G>C (p.Met2091Ile)
c.2241G>C (p.Met747Ile)
c.6261G>C (p.Met2087Ile)
n.336-70483G>C
c.6249G>C (p.Met2083Ile)
c.5904G>C (p.Met1968Ile)
c.2250G>C (p.Met750Ile)
c.6144G>C (p.Met2048Ile)
c.6135G>C (p.Met2045Ile)
c.6150G>C (p.Met2050Ile)
c.447G>C (p.Met149Ile)
Xg.32287546C>TCA10378506DMDc.1119G>A (p.Met373Ile)
c.6273G>A (p.Met2091Ile)
c.2241G>A (p.Met747Ile)
c.6261G>A (p.Met2087Ile)
n.336-70483G>A
c.6249G>A (p.Met2083Ile)
c.5904G>A (p.Met1968Ile)
c.2250G>A (p.Met750Ile)
c.6144G>A (p.Met2048Ile)
c.6135G>A (p.Met2045Ile)
c.6150G>A (p.Met2050Ile)
c.447G>A (p.Met149Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287547delCA2695232711DMDc.1118del (p.Met373SerfsTer23)
c.6272del (p.Met2091SerfsTer23)
c.2240del (p.Met747SerfsTer23)
c.6260del (p.Met2087SerfsTer23)
n.336-70484del
c.6248del (p.Met2083SerfsTer23)
c.5903del (p.Met1968SerfsTer23)
c.2249del (p.Met750SerfsTer23)
c.6143del (p.Met2048SerfsTer23)
c.6134del (p.Met2045SerfsTer23)
c.6149del (p.Met2050SerfsTer23)
c.446del (p.Met149SerfsTer23)
Xg.32287547A=CA2422736408DMDc.1118T= (p.Met373=)
c.6272T= (p.Met2091=)
c.2240T= (p.Met747=)
c.6260T= (p.Met2087=)
n.336-70484T=
c.6248T= (p.Met2083=)
c.5903T= (p.Met1968=)
c.2249T= (p.Met750=)
c.6143T= (p.Met2048=)
c.6134T= (p.Met2045=)
c.6149T= (p.Met2050=)
c.446T= (p.Met149=)
Xg.32287547A>CCA412665607DMDc.1118T>G (p.Met373Arg)
c.6272T>G (p.Met2091Arg)
c.2240T>G (p.Met747Arg)
c.6260T>G (p.Met2087Arg)
n.336-70484T>G
c.6248T>G (p.Met2083Arg)
c.5903T>G (p.Met1968Arg)
c.2249T>G (p.Met750Arg)
c.6143T>G (p.Met2048Arg)
c.6134T>G (p.Met2045Arg)
c.6149T>G (p.Met2050Arg)
c.446T>G (p.Met149Arg)
Xg.32287547A>GCA412665608DMDc.1118T>C (p.Met373Thr)
c.6272T>C (p.Met2091Thr)
c.2240T>C (p.Met747Thr)
c.6260T>C (p.Met2087Thr)
n.336-70484T>C
c.6248T>C (p.Met2083Thr)
c.5903T>C (p.Met1968Thr)
c.2249T>C (p.Met750Thr)
c.6143T>C (p.Met2048Thr)
c.6134T>C (p.Met2045Thr)
c.6149T>C (p.Met2050Thr)
c.446T>C (p.Met149Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.32287547A>TCA412665611DMDc.1118T>A (p.Met373Lys)
c.6272T>A (p.Met2091Lys)
c.2240T>A (p.Met747Lys)
c.6260T>A (p.Met2087Lys)
n.336-70484T>A
c.6248T>A (p.Met2083Lys)
c.5903T>A (p.Met1968Lys)
c.2249T>A (p.Met750Lys)
c.6143T>A (p.Met2048Lys)
c.6134T>A (p.Met2045Lys)
c.6149T>A (p.Met2050Lys)
c.446T>A (p.Met149Lys)
Xg.32287548T>ACA412665619DMDc.1117A>T (p.Met373Leu)
c.6271A>T (p.Met2091Leu)
c.2239A>T (p.Met747Leu)
c.6259A>T (p.Met2087Leu)
n.336-70485A>T
c.6247A>T (p.Met2083Leu)
c.5902A>T (p.Met1968Leu)
c.2248A>T (p.Met750Leu)
c.6142A>T (p.Met2048Leu)
c.6133A>T (p.Met2045Leu)
c.6148A>T (p.Met2050Leu)
c.445A>T (p.Met149Leu)
Xg.32287548T>CCA412665622DMDc.1117A>G (p.Met373Val)
c.6271A>G (p.Met2091Val)
c.2239A>G (p.Met747Val)
c.6259A>G (p.Met2087Val)
n.336-70485A>G
c.6247A>G (p.Met2083Val)
c.5902A>G (p.Met1968Val)
c.2248A>G (p.Met750Val)
c.6142A>G (p.Met2048Val)
c.6133A>G (p.Met2045Val)
c.6148A>G (p.Met2050Val)
c.445A>G (p.Met149Val)
 ClinVar
Xg.32287548T>GCA412665613DMDc.1117A>C (p.Met373Leu)
c.6271A>C (p.Met2091Leu)
c.2239A>C (p.Met747Leu)
c.6259A>C (p.Met2087Leu)
n.336-70485A>C
c.6247A>C (p.Met2083Leu)
c.5902A>C (p.Met1968Leu)
c.2248A>C (p.Met750Leu)
c.6142A>C (p.Met2048Leu)
c.6133A>C (p.Met2045Leu)
c.6148A>C (p.Met2050Leu)
c.445A>C (p.Met149Leu)
Xg.32287549T>ACA412665638DMDc.1116A>T (p.Lys372Asn)
c.6270A>T (p.Lys2090Asn)
c.2238A>T (p.Lys746Asn)
c.6258A>T (p.Lys2086Asn)
n.336-70486A>T
c.6246A>T (p.Lys2082Asn)
c.5901A>T (p.Lys1967Asn)
c.2247A>T (p.Lys749Asn)
c.6141A>T (p.Lys2047Asn)
c.6132A>T (p.Lys2044Asn)
c.6147A>T (p.Lys2049Asn)
c.444A>T (p.Lys148Asn)
Xg.32287549T>CCA515860626DMDc.1116A>G (p.Lys372=)
c.6270A>G (p.Lys2090=)
c.2238A>G (p.Lys746=)
c.6258A>G (p.Lys2086=)
n.336-70486A>G
c.6246A>G (p.Lys2082=)
c.5901A>G (p.Lys1967=)
c.2247A>G (p.Lys749=)
c.6141A>G (p.Lys2047=)
c.6132A>G (p.Lys2044=)
c.6147A>G (p.Lys2049=)
c.444A>G (p.Lys148=)
Xg.32287549T>GCA412665633DMDc.1116A>C (p.Lys372Asn)
c.6270A>C (p.Lys2090Asn)
c.2238A>C (p.Lys746Asn)
c.6258A>C (p.Lys2086Asn)
n.336-70486A>C
c.6246A>C (p.Lys2082Asn)
c.5901A>C (p.Lys1967Asn)
c.2247A>C (p.Lys749Asn)
c.6141A>C (p.Lys2047Asn)
c.6132A>C (p.Lys2044Asn)
c.6147A>C (p.Lys2049Asn)
c.444A>C (p.Lys148Asn)
Xg.32287550T>ACA412665641DMDc.1115A>T (p.Lys372Ile)
c.6269A>T (p.Lys2090Ile)
c.2237A>T (p.Lys746Ile)
c.6257A>T (p.Lys2086Ile)
n.336-70487A>T
c.6245A>T (p.Lys2082Ile)
c.5900A>T (p.Lys1967Ile)
c.2246A>T (p.Lys749Ile)
c.6140A>T (p.Lys2047Ile)
c.6131A>T (p.Lys2044Ile)
c.6146A>T (p.Lys2049Ile)
c.443A>T (p.Lys148Ile)
Xg.32287550T>CCA412665645DMDc.1115A>G (p.Lys372Arg)
c.6269A>G (p.Lys2090Arg)
c.2237A>G (p.Lys746Arg)
c.6257A>G (p.Lys2086Arg)
n.336-70487A>G
c.6245A>G (p.Lys2082Arg)
c.5900A>G (p.Lys1967Arg)
c.2246A>G (p.Lys749Arg)
c.6140A>G (p.Lys2047Arg)
c.6131A>G (p.Lys2044Arg)
c.6146A>G (p.Lys2049Arg)
c.443A>G (p.Lys148Arg)
Xg.32287550T>GCA412665647DMDc.1115A>C (p.Lys372Thr)
c.6269A>C (p.Lys2090Thr)
c.2237A>C (p.Lys746Thr)
c.6257A>C (p.Lys2086Thr)
n.336-70487A>C
c.6245A>C (p.Lys2082Thr)
c.5900A>C (p.Lys1967Thr)
c.2246A>C (p.Lys749Thr)
c.6140A>C (p.Lys2047Thr)
c.6131A>C (p.Lys2044Thr)
c.6146A>C (p.Lys2049Thr)
c.443A>C (p.Lys148Thr)
Xg.32287551T>ACA10378507DMDc.1114A>T (p.Lys372Ter)
c.6268A>T (p.Lys2090Ter)
c.2236A>T (p.Lys746Ter)
c.6256A>T (p.Lys2086Ter)
n.336-70488A>T
c.6244A>T (p.Lys2082Ter)
c.5899A>T (p.Lys1967Ter)
c.2245A>T (p.Lys749Ter)
c.6139A>T (p.Lys2047Ter)
c.6130A>T (p.Lys2044Ter)
c.6145A>T (p.Lys2049Ter)
c.442A>T (p.Lys148Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287551T>CCA412665653DMDc.1114A>G (p.Lys372Glu)
c.6268A>G (p.Lys2090Glu)
c.2236A>G (p.Lys746Glu)
c.6256A>G (p.Lys2086Glu)
n.336-70488A>G
c.6244A>G (p.Lys2082Glu)
c.5899A>G (p.Lys1967Glu)
c.2245A>G (p.Lys749Glu)
c.6139A>G (p.Lys2047Glu)
c.6130A>G (p.Lys2044Glu)
c.6145A>G (p.Lys2049Glu)
c.442A>G (p.Lys148Glu)
Xg.32287551T>GCA412665657DMDc.1114A>C (p.Lys372Gln)
c.6268A>C (p.Lys2090Gln)
c.2236A>C (p.Lys746Gln)
c.6256A>C (p.Lys2086Gln)
n.336-70488A>C
c.6244A>C (p.Lys2082Gln)
c.5899A>C (p.Lys1967Gln)
c.2245A>C (p.Lys749Gln)
c.6139A>C (p.Lys2047Gln)
c.6130A>C (p.Lys2044Gln)
c.6145A>C (p.Lys2049Gln)
c.442A>C (p.Lys148Gln)
Xg.32287551T=CA2422736409DMDc.1114A= (p.Lys372=)
c.6268A= (p.Lys2090=)
c.2236A= (p.Lys746=)
c.6256A= (p.Lys2086=)
n.336-70488A=
c.6244A= (p.Lys2082=)
c.5899A= (p.Lys1967=)
c.2245A= (p.Lys749=)
c.6139A= (p.Lys2047=)
c.6130A= (p.Lys2044=)
c.6145A= (p.Lys2049=)
c.442A= (p.Lys148=)
Xg.32287552G>ACA515860627DMDc.1113C>T (p.Asn371=)
c.6267C>T (p.Asn2089=)
c.2235C>T (p.Asn745=)
c.6255C>T (p.Asn2085=)
n.336-70489C>T
c.6243C>T (p.Asn2081=)
c.5898C>T (p.Asn1966=)
c.2244C>T (p.Asn748=)
c.6138C>T (p.Asn2046=)
c.6129C>T (p.Asn2043=)
c.6144C>T (p.Asn2048=)
c.441C>T (p.Asn147=)
Xg.32287552G>CCA412665661DMDc.1113C>G (p.Asn371Lys)
c.6267C>G (p.Asn2089Lys)
c.2235C>G (p.Asn745Lys)
c.6255C>G (p.Asn2085Lys)
n.336-70489C>G
c.6243C>G (p.Asn2081Lys)
c.5898C>G (p.Asn1966Lys)
c.2244C>G (p.Asn748Lys)
c.6138C>G (p.Asn2046Lys)
c.6129C>G (p.Asn2043Lys)
c.6144C>G (p.Asn2048Lys)
c.441C>G (p.Asn147Lys)
Xg.32287552G>TCA412665667DMDc.1113C>A (p.Asn371Lys)
c.6267C>A (p.Asn2089Lys)
c.2235C>A (p.Asn745Lys)
c.6255C>A (p.Asn2085Lys)
n.336-70489C>A
c.6243C>A (p.Asn2081Lys)
c.5898C>A (p.Asn1966Lys)
c.2244C>A (p.Asn748Lys)
c.6138C>A (p.Asn2046Lys)
c.6129C>A (p.Asn2043Lys)
c.6144C>A (p.Asn2048Lys)
c.441C>A (p.Asn147Lys)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287553T>ACA412665670DMDc.1112A>T (p.Asn371Ile)
c.6266A>T (p.Asn2089Ile)
c.2234A>T (p.Asn745Ile)
c.6254A>T (p.Asn2085Ile)
n.336-70490A>T
c.6242A>T (p.Asn2081Ile)
c.5897A>T (p.Asn1966Ile)
c.2243A>T (p.Asn748Ile)
c.6137A>T (p.Asn2046Ile)
c.6128A>T (p.Asn2043Ile)
c.6143A>T (p.Asn2048Ile)
c.440A>T (p.Asn147Ile)
Xg.32287553T>CCA412665674DMDc.1112A>G (p.Asn371Ser)
c.6266A>G (p.Asn2089Ser)
c.2234A>G (p.Asn745Ser)
c.6254A>G (p.Asn2085Ser)
n.336-70490A>G
c.6242A>G (p.Asn2081Ser)
c.5897A>G (p.Asn1966Ser)
c.2243A>G (p.Asn748Ser)
c.6137A>G (p.Asn2046Ser)
c.6128A>G (p.Asn2043Ser)
c.6143A>G (p.Asn2048Ser)
c.440A>G (p.Asn147Ser)
Xg.32287553T>GCA412665677DMDc.1112A>C (p.Asn371Thr)
c.6266A>C (p.Asn2089Thr)
c.2234A>C (p.Asn745Thr)
c.6254A>C (p.Asn2085Thr)
n.336-70490A>C
c.6242A>C (p.Asn2081Thr)
c.5897A>C (p.Asn1966Thr)
c.2243A>C (p.Asn748Thr)
c.6137A>C (p.Asn2046Thr)
c.6128A>C (p.Asn2043Thr)
c.6143A>C (p.Asn2048Thr)
c.440A>C (p.Asn147Thr)
Xg.32287554T>ACA412665682DMDc.1111A>T (p.Asn371Tyr)
c.6265A>T (p.Asn2089Tyr)
c.2233A>T (p.Asn745Tyr)
c.6253A>T (p.Asn2085Tyr)
n.336-70491A>T
c.6241A>T (p.Asn2081Tyr)
c.5896A>T (p.Asn1966Tyr)
c.2242A>T (p.Asn748Tyr)
c.6136A>T (p.Asn2046Tyr)
c.6127A>T (p.Asn2043Tyr)
c.6142A>T (p.Asn2048Tyr)
c.439A>T (p.Asn147Tyr)
Xg.32287554T>CCA412665684DMDc.1111A>G (p.Asn371Asp)
c.6265A>G (p.Asn2089Asp)
c.2233A>G (p.Asn745Asp)
c.6253A>G (p.Asn2085Asp)
n.336-70491A>G
c.6241A>G (p.Asn2081Asp)
c.5896A>G (p.Asn1966Asp)
c.2242A>G (p.Asn748Asp)
c.6136A>G (p.Asn2046Asp)
c.6127A>G (p.Asn2043Asp)
c.6142A>G (p.Asn2048Asp)
c.439A>G (p.Asn147Asp)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287554T>GCA412665679DMDc.1111A>C (p.Asn371His)
c.6265A>C (p.Asn2089His)
c.2233A>C (p.Asn745His)
c.6253A>C (p.Asn2085His)
n.336-70491A>C
c.6241A>C (p.Asn2081His)
c.5896A>C (p.Asn1966His)
c.2242A>C (p.Asn748His)
c.6136A>C (p.Asn2046His)
c.6127A>C (p.Asn2043His)
c.6142A>C (p.Asn2048His)
c.439A>C (p.Asn147His)
Xg.32287555A>CCA515860628DMDc.1110T>G (p.Val370=)
c.6264T>G (p.Val2088=)
c.2232T>G (p.Val744=)
c.6252T>G (p.Val2084=)
n.336-70492T>G
c.6240T>G (p.Val2080=)
c.5895T>G (p.Val1965=)
c.2241T>G (p.Val747=)
c.6135T>G (p.Val2045=)
c.6126T>G (p.Val2042=)
c.6141T>G (p.Val2047=)
c.438T>G (p.Val146=)
Xg.32287555A>GCA515860629DMDc.1110T>C (p.Val370=)
c.6264T>C (p.Val2088=)
c.2232T>C (p.Val744=)
c.6252T>C (p.Val2084=)
n.336-70492T>C
c.6240T>C (p.Val2080=)
c.5895T>C (p.Val1965=)
c.2241T>C (p.Val747=)
c.6135T>C (p.Val2045=)
c.6126T>C (p.Val2042=)
c.6141T>C (p.Val2047=)
c.438T>C (p.Val146=)
Xg.32287555A>TCA515860630DMDc.1110T>A (p.Val370=)
c.6264T>A (p.Val2088=)
c.2232T>A (p.Val744=)
c.6252T>A (p.Val2084=)
n.336-70492T>A
c.6240T>A (p.Val2080=)
c.5895T>A (p.Val1965=)
c.2241T>A (p.Val747=)
c.6135T>A (p.Val2045=)
c.6126T>A (p.Val2042=)
c.6141T>A (p.Val2047=)
c.438T>A (p.Val146=)
Xg.32287556A>CCA412665687DMDc.1109T>G (p.Val370Gly)
c.6263T>G (p.Val2088Gly)
c.2231T>G (p.Val744Gly)
c.6251T>G (p.Val2084Gly)
n.336-70493T>G
c.6239T>G (p.Val2080Gly)
c.5894T>G (p.Val1965Gly)
c.2240T>G (p.Val747Gly)
c.6134T>G (p.Val2045Gly)
c.6125T>G (p.Val2042Gly)
c.6140T>G (p.Val2047Gly)
c.437T>G (p.Val146Gly)
Xg.32287556A>GCA412665692DMDc.1109T>C (p.Val370Ala)
c.6263T>C (p.Val2088Ala)
c.2231T>C (p.Val744Ala)
c.6251T>C (p.Val2084Ala)
n.336-70493T>C
c.6239T>C (p.Val2080Ala)
c.5894T>C (p.Val1965Ala)
c.2240T>C (p.Val747Ala)
c.6134T>C (p.Val2045Ala)
c.6125T>C (p.Val2042Ala)
c.6140T>C (p.Val2047Ala)
c.437T>C (p.Val146Ala)
Xg.32287556A>TCA412665694DMDc.1109T>A (p.Val370Asp)
c.6263T>A (p.Val2088Asp)
c.2231T>A (p.Val744Asp)
c.6251T>A (p.Val2084Asp)
n.336-70493T>A
c.6239T>A (p.Val2080Asp)
c.5894T>A (p.Val1965Asp)
c.2240T>A (p.Val747Asp)
c.6134T>A (p.Val2045Asp)
c.6125T>A (p.Val2042Asp)
c.6140T>A (p.Val2047Asp)
c.437T>A (p.Val146Asp)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287557C>ACA412665697DMDc.1108G>T (p.Val370Phe)
c.6262G>T (p.Val2088Phe)
c.2230G>T (p.Val744Phe)
c.6250G>T (p.Val2084Phe)
n.336-70494G>T
c.6238G>T (p.Val2080Phe)
c.5893G>T (p.Val1965Phe)
c.2239G>T (p.Val747Phe)
c.6133G>T (p.Val2045Phe)
c.6124G>T (p.Val2042Phe)
c.6139G>T (p.Val2047Phe)
c.436G>T (p.Val146Phe)
Xg.32287557C=CA2422736410DMDc.1108G= (p.Val370=)
c.6262G= (p.Val2088=)
c.2230G= (p.Val744=)
c.6250G= (p.Val2084=)
n.336-70494G=
c.6238G= (p.Val2080=)
c.5893G= (p.Val1965=)
c.2239G= (p.Val747=)
c.6133G= (p.Val2045=)
c.6124G= (p.Val2042=)
c.6139G= (p.Val2047=)
c.436G= (p.Val146=)
Xg.32287557C>GCA412665703DMDc.1108G>C (p.Val370Leu)
c.6262G>C (p.Val2088Leu)
c.2230G>C (p.Val744Leu)
c.6250G>C (p.Val2084Leu)
n.336-70494G>C
c.6238G>C (p.Val2080Leu)
c.5893G>C (p.Val1965Leu)
c.2239G>C (p.Val747Leu)
c.6133G>C (p.Val2045Leu)
c.6124G>C (p.Val2042Leu)
c.6139G>C (p.Val2047Leu)
c.436G>C (p.Val146Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287557C>TCA412665705DMDc.1108G>A (p.Val370Ile)
c.6262G>A (p.Val2088Ile)
c.2230G>A (p.Val744Ile)
c.6250G>A (p.Val2084Ile)
n.336-70494G>A
c.6238G>A (p.Val2080Ile)
c.5893G>A (p.Val1965Ile)
c.2239G>A (p.Val747Ile)
c.6133G>A (p.Val2045Ile)
c.6124G>A (p.Val2042Ile)
c.6139G>A (p.Val2047Ile)
c.436G>A (p.Val146Ile)
Xg.32287558T>ACA412665710DMDc.1107A>T (p.Lys369Asn)
c.6261A>T (p.Lys2087Asn)
c.2229A>T (p.Lys743Asn)
c.6249A>T (p.Lys2083Asn)
n.336-70495A>T
c.6237A>T (p.Lys2079Asn)
c.5892A>T (p.Lys1964Asn)
c.2238A>T (p.Lys746Asn)
c.6132A>T (p.Lys2044Asn)
c.6123A>T (p.Lys2041Asn)
c.6138A>T (p.Lys2046Asn)
c.435A>T (p.Lys145Asn)
 gnomAD v4
Xg.32287558T>CCA515860631DMDc.1107A>G (p.Lys369=)
c.6261A>G (p.Lys2087=)
c.2229A>G (p.Lys743=)
c.6249A>G (p.Lys2083=)
n.336-70495A>G
c.6237A>G (p.Lys2079=)
c.5892A>G (p.Lys1964=)
c.2238A>G (p.Lys746=)
c.6132A>G (p.Lys2044=)
c.6123A>G (p.Lys2041=)
c.6138A>G (p.Lys2046=)
c.435A>G (p.Lys145=)
Xg.32287558T>GCA412665711DMDc.1107A>C (p.Lys369Asn)
c.6261A>C (p.Lys2087Asn)
c.2229A>C (p.Lys743Asn)
c.6249A>C (p.Lys2083Asn)
n.336-70495A>C
c.6237A>C (p.Lys2079Asn)
c.5892A>C (p.Lys1964Asn)
c.2238A>C (p.Lys746Asn)
c.6132A>C (p.Lys2044Asn)
c.6123A>C (p.Lys2041Asn)
c.6138A>C (p.Lys2046Asn)
c.435A>C (p.Lys145Asn)
Xg.32287562dupCA2695232712DMDc.1107dup (p.Val370SerfsTer2)
c.6261dup (p.Val2088SerfsTer2)
c.2229dup (p.Val744SerfsTer2)
c.6249dup (p.Val2084SerfsTer2)
n.336-70495dup
c.6237dup (p.Val2080SerfsTer2)
c.5892dup (p.Val1965SerfsTer2)
c.2238dup (p.Val747SerfsTer2)
c.6132dup (p.Val2045SerfsTer2)
c.6123dup (p.Val2042SerfsTer2)
c.6138dup (p.Val2047SerfsTer2)
c.435dup (p.Val146SerfsTer2)
Xg.32287562delCA2693406164DMDc.1107del (p.Val370LeufsTer26)
c.6261del (p.Val2088LeufsTer26)
c.2229del (p.Val744LeufsTer26)
c.6249del (p.Val2084LeufsTer26)
n.336-70495del
c.6237del (p.Val2080LeufsTer26)
c.5892del (p.Val1965LeufsTer26)
c.2238del (p.Val747LeufsTer26)
c.6132del (p.Val2045LeufsTer26)
c.6123del (p.Val2042LeufsTer26)
c.6138del (p.Val2047LeufsTer26)
c.435del (p.Val146LeufsTer26)
 gnomAD v4
Xg.32287559T>ACA412665712DMDc.1106A>T (p.Lys369Ile)
c.6260A>T (p.Lys2087Ile)
c.2228A>T (p.Lys743Ile)
c.6248A>T (p.Lys2083Ile)
n.336-70496A>T
c.6236A>T (p.Lys2079Ile)
c.5891A>T (p.Lys1964Ile)
c.2237A>T (p.Lys746Ile)
c.6131A>T (p.Lys2044Ile)
c.6122A>T (p.Lys2041Ile)
c.6137A>T (p.Lys2046Ile)
c.434A>T (p.Lys145Ile)
Xg.32287559T>CCA412665713DMDc.1106A>G (p.Lys369Arg)
c.6260A>G (p.Lys2087Arg)
c.2228A>G (p.Lys743Arg)
c.6248A>G (p.Lys2083Arg)
n.336-70496A>G
c.6236A>G (p.Lys2079Arg)
c.5891A>G (p.Lys1964Arg)
c.2237A>G (p.Lys746Arg)
c.6131A>G (p.Lys2044Arg)
c.6122A>G (p.Lys2041Arg)
c.6137A>G (p.Lys2046Arg)
c.434A>G (p.Lys145Arg)
Xg.32287559T>GCA412665714DMDc.1106A>C (p.Lys369Thr)
c.6260A>C (p.Lys2087Thr)
c.2228A>C (p.Lys743Thr)
c.6248A>C (p.Lys2083Thr)
n.336-70496A>C
c.6236A>C (p.Lys2079Thr)
c.5891A>C (p.Lys1964Thr)
c.2237A>C (p.Lys746Thr)
c.6131A>C (p.Lys2044Thr)
c.6122A>C (p.Lys2041Thr)
c.6137A>C (p.Lys2046Thr)
c.434A>C (p.Lys145Thr)
Xg.32287560T>ACA412665717DMDc.1105A>T (p.Lys369Ter)
c.6259A>T (p.Lys2087Ter)
c.2227A>T (p.Lys743Ter)
c.6247A>T (p.Lys2083Ter)
n.336-70497A>T
c.6235A>T (p.Lys2079Ter)
c.5890A>T (p.Lys1964Ter)
c.2236A>T (p.Lys746Ter)
c.6130A>T (p.Lys2044Ter)
c.6121A>T (p.Lys2041Ter)
c.6136A>T (p.Lys2046Ter)
c.433A>T (p.Lys145Ter)
 ClinVar dbSNP
Xg.32287560T>CCA412665723DMDc.1105A>G (p.Lys369Glu)
c.6259A>G (p.Lys2087Glu)
c.2227A>G (p.Lys743Glu)
c.6247A>G (p.Lys2083Glu)
n.336-70497A>G
c.6235A>G (p.Lys2079Glu)
c.5890A>G (p.Lys1964Glu)
c.2236A>G (p.Lys746Glu)
c.6130A>G (p.Lys2044Glu)
c.6121A>G (p.Lys2041Glu)
c.6136A>G (p.Lys2046Glu)
c.433A>G (p.Lys145Glu)
 ClinVar dbSNP
Xg.32287560T>GCA412665725DMDc.1105A>C (p.Lys369Gln)
c.6259A>C (p.Lys2087Gln)
c.2227A>C (p.Lys743Gln)
c.6247A>C (p.Lys2083Gln)
n.336-70497A>C
c.6235A>C (p.Lys2079Gln)
c.5890A>C (p.Lys1964Gln)
c.2236A>C (p.Lys746Gln)
c.6130A>C (p.Lys2044Gln)
c.6121A>C (p.Lys2041Gln)
c.6136A>C (p.Lys2046Gln)
c.433A>C (p.Lys145Gln)
Xg.32287561T>ACA412665730DMDc.1104A>T (p.Glu368Asp)
c.6258A>T (p.Glu2086Asp)
c.2226A>T (p.Glu742Asp)
c.6246A>T (p.Glu2082Asp)
n.336-70498A>T
c.6234A>T (p.Glu2078Asp)
c.5889A>T (p.Glu1963Asp)
c.2235A>T (p.Glu745Asp)
c.6129A>T (p.Glu2043Asp)
c.6120A>T (p.Glu2040Asp)
c.6135A>T (p.Glu2045Asp)
c.432A>T (p.Glu144Asp)
Xg.32287561T>CCA515860632DMDc.1104A>G (p.Glu368=)
c.6258A>G (p.Glu2086=)
c.2226A>G (p.Glu742=)
c.6246A>G (p.Glu2082=)
n.336-70498A>G
c.6234A>G (p.Glu2078=)
c.5889A>G (p.Glu1963=)
c.2235A>G (p.Glu745=)
c.6129A>G (p.Glu2043=)
c.6120A>G (p.Glu2040=)
c.6135A>G (p.Glu2045=)
c.432A>G (p.Glu144=)
Xg.32287561T>GCA412665740DMDc.1104A>C (p.Glu368Asp)
c.6258A>C (p.Glu2086Asp)
c.2226A>C (p.Glu742Asp)
c.6246A>C (p.Glu2082Asp)
n.336-70498A>C
c.6234A>C (p.Glu2078Asp)
c.5889A>C (p.Glu1963Asp)
c.2235A>C (p.Glu745Asp)
c.6129A>C (p.Glu2043Asp)
c.6120A>C (p.Glu2040Asp)
c.6135A>C (p.Glu2045Asp)
c.432A>C (p.Glu144Asp)
Xg.32287562T>ACA412665749DMDc.1103A>T (p.Glu368Val)
c.6257A>T (p.Glu2086Val)
c.2225A>T (p.Glu742Val)
c.6245A>T (p.Glu2082Val)
n.336-70499A>T
c.6233A>T (p.Glu2078Val)
c.5888A>T (p.Glu1963Val)
c.2234A>T (p.Glu745Val)
c.6128A>T (p.Glu2043Val)
c.6119A>T (p.Glu2040Val)
c.6134A>T (p.Glu2045Val)
c.431A>T (p.Glu144Val)
Xg.32287562T>CCA412665753DMDc.1103A>G (p.Glu368Gly)
c.6257A>G (p.Glu2086Gly)
c.2225A>G (p.Glu742Gly)
c.6245A>G (p.Glu2082Gly)
n.336-70499A>G
c.6233A>G (p.Glu2078Gly)
c.5888A>G (p.Glu1963Gly)
c.2234A>G (p.Glu745Gly)
c.6128A>G (p.Glu2043Gly)
c.6119A>G (p.Glu2040Gly)
c.6134A>G (p.Glu2045Gly)
c.431A>G (p.Glu144Gly)
Xg.32287562T>GCA412665756DMDc.1103A>C (p.Glu368Ala)
c.6257A>C (p.Glu2086Ala)
c.2225A>C (p.Glu742Ala)
c.6245A>C (p.Glu2082Ala)
n.336-70499A>C
c.6233A>C (p.Glu2078Ala)
c.5888A>C (p.Glu1963Ala)
c.2234A>C (p.Glu745Ala)
c.6128A>C (p.Glu2043Ala)
c.6119A>C (p.Glu2040Ala)
c.6134A>C (p.Glu2045Ala)
c.431A>C (p.Glu144Ala)
Xg.32287563C>ACA412665759DMDc.1102G>T (p.Glu368Ter)
c.6256G>T (p.Glu2086Ter)
c.2224G>T (p.Glu742Ter)
c.6244G>T (p.Glu2082Ter)
n.336-70500G>T
c.6232G>T (p.Glu2078Ter)
c.5887G>T (p.Glu1963Ter)
c.2233G>T (p.Glu745Ter)
c.6127G>T (p.Glu2043Ter)
c.6118G>T (p.Glu2040Ter)
c.6133G>T (p.Glu2045Ter)
c.430G>T (p.Glu144Ter)
 dbSNP
Xg.32287563C=CA2422736411DMDc.1102G= (p.Glu368=)
c.6256G= (p.Glu2086=)
c.2224G= (p.Glu742=)
c.6244G= (p.Glu2082=)
n.336-70500G=
c.6232G= (p.Glu2078=)
c.5887G= (p.Glu1963=)
c.2233G= (p.Glu745=)
c.6127G= (p.Glu2043=)
c.6118G= (p.Glu2040=)
c.6133G= (p.Glu2045=)
c.430G= (p.Glu144=)
Xg.32287563C>GCA412665761DMDc.1102G>C (p.Glu368Gln)
c.6256G>C (p.Glu2086Gln)
c.2224G>C (p.Glu742Gln)
c.6244G>C (p.Glu2082Gln)
n.336-70500G>C
c.6232G>C (p.Glu2078Gln)
c.5887G>C (p.Glu1963Gln)
c.2233G>C (p.Glu745Gln)
c.6127G>C (p.Glu2043Gln)
c.6118G>C (p.Glu2040Gln)
c.6133G>C (p.Glu2045Gln)
c.430G>C (p.Glu144Gln)
Xg.32287563C>TCA328529825DMDc.1102G>A (p.Glu368Lys)
c.6256G>A (p.Glu2086Lys)
c.2224G>A (p.Glu742Lys)
c.6244G>A (p.Glu2082Lys)
n.336-70500G>A
c.6232G>A (p.Glu2078Lys)
c.5887G>A (p.Glu1963Lys)
c.2233G>A (p.Glu745Lys)
c.6127G>A (p.Glu2043Lys)
c.6118G>A (p.Glu2040Lys)
c.6133G>A (p.Glu2045Lys)
c.430G>A (p.Glu144Lys)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.32287564C>ACA412665769DMDc.1101G>T (p.Trp367Cys)
c.6255G>T (p.Trp2085Cys)
c.2223G>T (p.Trp741Cys)
c.6243G>T (p.Trp2081Cys)
n.336-70501G>T
c.6231G>T (p.Trp2077Cys)
c.5886G>T (p.Trp1962Cys)
c.2232G>T (p.Trp744Cys)
c.6126G>T (p.Trp2042Cys)
c.6117G>T (p.Trp2039Cys)
c.6132G>T (p.Trp2044Cys)
c.429G>T (p.Trp143Cys)
Xg.32287564C>GCA412665771DMDc.1101G>C (p.Trp367Cys)
c.6255G>C (p.Trp2085Cys)
c.2223G>C (p.Trp741Cys)
c.6243G>C (p.Trp2081Cys)
n.336-70501G>C
c.6231G>C (p.Trp2077Cys)
c.5886G>C (p.Trp1962Cys)
c.2232G>C (p.Trp744Cys)
c.6126G>C (p.Trp2042Cys)
c.6117G>C (p.Trp2039Cys)
c.6132G>C (p.Trp2044Cys)
c.429G>C (p.Trp143Cys)
Xg.32287564C>TCA412665775DMDc.1101G>A (p.Trp367Ter)
c.6255G>A (p.Trp2085Ter)
c.2223G>A (p.Trp741Ter)
c.6243G>A (p.Trp2081Ter)
n.336-70501G>A
c.6231G>A (p.Trp2077Ter)
c.5886G>A (p.Trp1962Ter)
c.2232G>A (p.Trp744Ter)
c.6126G>A (p.Trp2042Ter)
c.6117G>A (p.Trp2039Ter)
c.6132G>A (p.Trp2044Ter)
c.429G>A (p.Trp143Ter)
 dbSNP
Xg.32287565C>ACA412665778DMDc.1100G>T (p.Trp367Leu)
c.6254G>T (p.Trp2085Leu)
c.2222G>T (p.Trp741Leu)
c.6242G>T (p.Trp2081Leu)
n.336-70502G>T
c.6230G>T (p.Trp2077Leu)
c.5885G>T (p.Trp1962Leu)
c.2231G>T (p.Trp744Leu)
c.6125G>T (p.Trp2042Leu)
c.6116G>T (p.Trp2039Leu)
c.6131G>T (p.Trp2044Leu)
c.428G>T (p.Trp143Leu)
 gnomAD v4
Xg.32287565C>GCA412665779DMDc.1100G>C (p.Trp367Ser)
c.6254G>C (p.Trp2085Ser)
c.2222G>C (p.Trp741Ser)
c.6242G>C (p.Trp2081Ser)
n.336-70502G>C
c.6230G>C (p.Trp2077Ser)
c.5885G>C (p.Trp1962Ser)
c.2231G>C (p.Trp744Ser)
c.6125G>C (p.Trp2042Ser)
c.6116G>C (p.Trp2039Ser)
c.6131G>C (p.Trp2044Ser)
c.428G>C (p.Trp143Ser)
Xg.32287565C>TCA412665780DMDc.1100G>A (p.Trp367Ter)
c.6254G>A (p.Trp2085Ter)
c.2222G>A (p.Trp741Ter)
c.6242G>A (p.Trp2081Ter)
n.336-70502G>A
c.6230G>A (p.Trp2077Ter)
c.5885G>A (p.Trp1962Ter)
c.2231G>A (p.Trp744Ter)
c.6125G>A (p.Trp2042Ter)
c.6116G>A (p.Trp2039Ter)
c.6131G>A (p.Trp2044Ter)
c.428G>A (p.Trp143Ter)
 ClinVar dbSNP
Xg.32287565_32287566delinsCACA2422736412DMDc.1099_1100delinsTG (p.Trp367=)
c.6253_6254delinsTG (p.Trp2085=)
c.2221_2222delinsTG (p.Trp741=)
c.6241_6242delinsTG (p.Trp2081=)
n.336-70503_336-70502delinsTG
c.6229_6230delinsTG (p.Trp2077=)
c.5884_5885delinsTG (p.Trp1962=)
c.2230_2231delinsTG (p.Trp744=)
c.6124_6125delinsTG (p.Trp2042=)
c.6115_6116delinsTG (p.Trp2039=)
c.6130_6131delinsTG (p.Trp2044=)
c.427_428delinsTG (p.Trp143=)
Xg.32287566delCA1139667360DMDc.1099del (p.Trp367GlyfsTer29)
c.6253del (p.Trp2085GlyfsTer29)
c.2221del (p.Trp741GlyfsTer29)
c.6241del (p.Trp2081GlyfsTer29)
n.336-70503del
c.6229del (p.Trp2077GlyfsTer29)
c.5884del (p.Trp1962GlyfsTer29)
c.2230del (p.Trp744GlyfsTer29)
c.6124del (p.Trp2042GlyfsTer29)
c.6115del (p.Trp2039GlyfsTer29)
c.6130del (p.Trp2044GlyfsTer29)
c.427del (p.Trp143GlyfsTer29)
 ClinVar dbSNP
Xg.32287566A>CCA412665783DMDc.1099T>G (p.Trp367Gly)
c.6253T>G (p.Trp2085Gly)
c.2221T>G (p.Trp741Gly)
c.6241T>G (p.Trp2081Gly)
n.336-70503T>G
c.6229T>G (p.Trp2077Gly)
c.5884T>G (p.Trp1962Gly)
c.2230T>G (p.Trp744Gly)
c.6124T>G (p.Trp2042Gly)
c.6115T>G (p.Trp2039Gly)
c.6130T>G (p.Trp2044Gly)
c.427T>G (p.Trp143Gly)
Xg.32287566A>GCA412665787DMDc.1099T>C (p.Trp367Arg)
c.6253T>C (p.Trp2085Arg)
c.2221T>C (p.Trp741Arg)
c.6241T>C (p.Trp2081Arg)
n.336-70503T>C
c.6229T>C (p.Trp2077Arg)
c.5884T>C (p.Trp1962Arg)
c.2230T>C (p.Trp744Arg)
c.6124T>C (p.Trp2042Arg)
c.6115T>C (p.Trp2039Arg)
c.6130T>C (p.Trp2044Arg)
c.427T>C (p.Trp143Arg)
Xg.32287566A>TCA412665781DMDc.1099T>A (p.Trp367Arg)
c.6253T>A (p.Trp2085Arg)
c.2221T>A (p.Trp741Arg)
c.6241T>A (p.Trp2081Arg)
n.336-70503T>A
c.6229T>A (p.Trp2077Arg)
c.5884T>A (p.Trp1962Arg)
c.2230T>A (p.Trp744Arg)
c.6124T>A (p.Trp2042Arg)
c.6115T>A (p.Trp2039Arg)
c.6130T>A (p.Trp2044Arg)
c.427T>A (p.Trp143Arg)
Xg.32287567T>ACA412665791DMDc.1098A>T (p.Gln366His)
c.6252A>T (p.Gln2084His)
c.2220A>T (p.Gln740His)
c.6240A>T (p.Gln2080His)
n.336-70504A>T
c.6228A>T (p.Gln2076His)
c.5883A>T (p.Gln1961His)
c.2229A>T (p.Gln743His)
c.6123A>T (p.Gln2041His)
c.6114A>T (p.Gln2038His)
c.6129A>T (p.Gln2043His)
c.426A>T (p.Gln142His)
Xg.32287567T>CCA515860633DMDc.1098A>G (p.Gln366=)
c.6252A>G (p.Gln2084=)
c.2220A>G (p.Gln740=)
c.6240A>G (p.Gln2080=)
n.336-70504A>G
c.6228A>G (p.Gln2076=)
c.5883A>G (p.Gln1961=)
c.2229A>G (p.Gln743=)
c.6123A>G (p.Gln2041=)
c.6114A>G (p.Gln2038=)
c.6129A>G (p.Gln2043=)
c.426A>G (p.Gln142=)
 ClinVar
Xg.32287567T>GCA412665798DMDc.1098A>C (p.Gln366His)
c.6252A>C (p.Gln2084His)
c.2220A>C (p.Gln740His)
c.6240A>C (p.Gln2080His)
n.336-70504A>C
c.6228A>C (p.Gln2076His)
c.5883A>C (p.Gln1961His)
c.2229A>C (p.Gln743His)
c.6123A>C (p.Gln2041His)
c.6114A>C (p.Gln2038His)
c.6129A>C (p.Gln2043His)
c.426A>C (p.Gln142His)
Xg.32287568T>ACA412665800DMDc.1097A>T (p.Gln366Leu)
c.6251A>T (p.Gln2084Leu)
c.2219A>T (p.Gln740Leu)
c.6239A>T (p.Gln2080Leu)
n.336-70505A>T
c.6227A>T (p.Gln2076Leu)
c.5882A>T (p.Gln1961Leu)
c.2228A>T (p.Gln743Leu)
c.6122A>T (p.Gln2041Leu)
c.6113A>T (p.Gln2038Leu)
c.6128A>T (p.Gln2043Leu)
c.425A>T (p.Gln142Leu)
Xg.32287568T>CCA412665804DMDc.1097A>G (p.Gln366Arg)
c.6251A>G (p.Gln2084Arg)
c.2219A>G (p.Gln740Arg)
c.6239A>G (p.Gln2080Arg)
n.336-70505A>G
c.6227A>G (p.Gln2076Arg)
c.5882A>G (p.Gln1961Arg)
c.2228A>G (p.Gln743Arg)
c.6122A>G (p.Gln2041Arg)
c.6113A>G (p.Gln2038Arg)
c.6128A>G (p.Gln2043Arg)
c.425A>G (p.Gln142Arg)
Xg.32287568T>GCA412665809DMDc.1097A>C (p.Gln366Pro)
c.6251A>C (p.Gln2084Pro)
c.2219A>C (p.Gln740Pro)
c.6239A>C (p.Gln2080Pro)
n.336-70505A>C
c.6227A>C (p.Gln2076Pro)
c.5882A>C (p.Gln1961Pro)
c.2228A>C (p.Gln743Pro)
c.6122A>C (p.Gln2041Pro)
c.6113A>C (p.Gln2038Pro)
c.6128A>C (p.Gln2043Pro)
c.425A>C (p.Gln142Pro)
Xg.32287569G>ACA412665816DMDc.1096C>T (p.Gln366Ter)
c.6250C>T (p.Gln2084Ter)
c.2218C>T (p.Gln740Ter)
c.6238C>T (p.Gln2080Ter)
n.336-70506C>T
c.6226C>T (p.Gln2076Ter)
c.5881C>T (p.Gln1961Ter)
c.2227C>T (p.Gln743Ter)
c.6121C>T (p.Gln2041Ter)
c.6112C>T (p.Gln2038Ter)
c.6127C>T (p.Gln2043Ter)
c.424C>T (p.Gln142Ter)
 ClinVar dbSNP
Xg.32287569G>CCA412665812DMDc.1096C>G (p.Gln366Glu)
c.6250C>G (p.Gln2084Glu)
c.2218C>G (p.Gln740Glu)
c.6238C>G (p.Gln2080Glu)
n.336-70506C>G
c.6226C>G (p.Gln2076Glu)
c.5881C>G (p.Gln1961Glu)
c.2227C>G (p.Gln743Glu)
c.6121C>G (p.Gln2041Glu)
c.6112C>G (p.Gln2038Glu)
c.6127C>G (p.Gln2043Glu)
c.424C>G (p.Gln142Glu)
Xg.32287569G>TCA412665814DMDc.1096C>A (p.Gln366Lys)
c.6250C>A (p.Gln2084Lys)
c.2218C>A (p.Gln740Lys)
c.6238C>A (p.Gln2080Lys)
n.336-70506C>A
c.6226C>A (p.Gln2076Lys)
c.5881C>A (p.Gln1961Lys)
c.2227C>A (p.Gln743Lys)
c.6121C>A (p.Gln2041Lys)
c.6112C>A (p.Gln2038Lys)
c.6127C>A (p.Gln2043Lys)
c.424C>A (p.Gln142Lys)
Xg.32287570G>ACA515860634DMDc.1095C>T (p.Phe365=)
c.6249C>T (p.Phe2083=)
c.2217C>T (p.Phe739=)
c.6237C>T (p.Phe2079=)
n.336-70507C>T
c.6225C>T (p.Phe2075=)
c.5880C>T (p.Phe1960=)
c.2226C>T (p.Phe742=)
c.6120C>T (p.Phe2040=)
c.6111C>T (p.Phe2037=)
c.6126C>T (p.Phe2042=)
c.423C>T (p.Phe141=)
 ClinVar dbSNP gnomAD v4
Xg.32287570G>CCA412665819DMDc.1095C>G (p.Phe365Leu)
c.6249C>G (p.Phe2083Leu)
c.2217C>G (p.Phe739Leu)
c.6237C>G (p.Phe2079Leu)
n.336-70507C>G
c.6225C>G (p.Phe2075Leu)
c.5880C>G (p.Phe1960Leu)
c.2226C>G (p.Phe742Leu)
c.6120C>G (p.Phe2040Leu)
c.6111C>G (p.Phe2037Leu)
c.6126C>G (p.Phe2042Leu)
c.423C>G (p.Phe141Leu)
Xg.32287570G=CA2422736413DMDc.1095C= (p.Phe365=)
c.6249C= (p.Phe2083=)
c.2217C= (p.Phe739=)
c.6237C= (p.Phe2079=)
n.336-70507C=
c.6225C= (p.Phe2075=)
c.5880C= (p.Phe1960=)
c.2226C= (p.Phe742=)
c.6120C= (p.Phe2040=)
c.6111C= (p.Phe2037=)
c.6126C= (p.Phe2042=)
c.423C= (p.Phe141=)
Xg.32287570G>TCA412665821DMDc.1095C>A (p.Phe365Leu)
c.6249C>A (p.Phe2083Leu)
c.2217C>A (p.Phe739Leu)
c.6237C>A (p.Phe2079Leu)
n.336-70507C>A
c.6225C>A (p.Phe2075Leu)
c.5880C>A (p.Phe1960Leu)
c.2226C>A (p.Phe742Leu)
c.6120C>A (p.Phe2040Leu)
c.6111C>A (p.Phe2037Leu)
c.6126C>A (p.Phe2042Leu)
c.423C>A (p.Phe141Leu)
Xg.32287571A>CCA412665824DMDc.1094T>G (p.Phe365Cys)
c.6248T>G (p.Phe2083Cys)
c.2216T>G (p.Phe739Cys)
c.6236T>G (p.Phe2079Cys)
n.336-70508T>G
c.6224T>G (p.Phe2075Cys)
c.5879T>G (p.Phe1960Cys)
c.2225T>G (p.Phe742Cys)
c.6119T>G (p.Phe2040Cys)
c.6110T>G (p.Phe2037Cys)
c.6125T>G (p.Phe2042Cys)
c.422T>G (p.Phe141Cys)
Xg.32287571A>GCA412665826DMDc.1094T>C (p.Phe365Ser)
c.6248T>C (p.Phe2083Ser)
c.2216T>C (p.Phe739Ser)
c.6236T>C (p.Phe2079Ser)
n.336-70508T>C
c.6224T>C (p.Phe2075Ser)
c.5879T>C (p.Phe1960Ser)
c.2225T>C (p.Phe742Ser)
c.6119T>C (p.Phe2040Ser)
c.6110T>C (p.Phe2037Ser)
c.6125T>C (p.Phe2042Ser)
c.422T>C (p.Phe141Ser)
Xg.32287571A>TCA412665829DMDc.1094T>A (p.Phe365Tyr)
c.6248T>A (p.Phe2083Tyr)
c.2216T>A (p.Phe739Tyr)
c.6236T>A (p.Phe2079Tyr)
n.336-70508T>A
c.6224T>A (p.Phe2075Tyr)
c.5879T>A (p.Phe1960Tyr)
c.2225T>A (p.Phe742Tyr)
c.6119T>A (p.Phe2040Tyr)
c.6110T>A (p.Phe2037Tyr)
c.6125T>A (p.Phe2042Tyr)
c.422T>A (p.Phe141Tyr)
Xg.32287572A>CCA412665838DMDc.1093T>G (p.Phe365Val)
c.6247T>G (p.Phe2083Val)
c.2215T>G (p.Phe739Val)
c.6235T>G (p.Phe2079Val)
n.336-70509T>G
c.6223T>G (p.Phe2075Val)
c.5878T>G (p.Phe1960Val)
c.2224T>G (p.Phe742Val)
c.6118T>G (p.Phe2040Val)
c.6109T>G (p.Phe2037Val)
c.6124T>G (p.Phe2042Val)
c.421T>G (p.Phe141Val)
Xg.32287572A>GCA412665835DMDc.1093T>C (p.Phe365Leu)
c.6247T>C (p.Phe2083Leu)
c.2215T>C (p.Phe739Leu)
c.6235T>C (p.Phe2079Leu)
n.336-70509T>C
c.6223T>C (p.Phe2075Leu)
c.5878T>C (p.Phe1960Leu)
c.2224T>C (p.Phe742Leu)
c.6118T>C (p.Phe2040Leu)
c.6109T>C (p.Phe2037Leu)
c.6124T>C (p.Phe2042Leu)
c.421T>C (p.Phe141Leu)
Xg.32287572A>TCA412665832DMDc.1093T>A (p.Phe365Ile)
c.6247T>A (p.Phe2083Ile)
c.2215T>A (p.Phe739Ile)
c.6235T>A (p.Phe2079Ile)
n.336-70509T>A
c.6223T>A (p.Phe2075Ile)
c.5878T>A (p.Phe1960Ile)
c.2224T>A (p.Phe742Ile)
c.6118T>A (p.Phe2040Ile)
c.6109T>A (p.Phe2037Ile)
c.6124T>A (p.Phe2042Ile)
c.421T>A (p.Phe141Ile)
Xg.32287573A>CCA412665845DMDc.1092T>G (p.Asp364Glu)
c.6246T>G (p.Asp2082Glu)
c.2214T>G (p.Asp738Glu)
c.6234T>G (p.Asp2078Glu)
n.336-70510T>G
c.6222T>G (p.Asp2074Glu)
c.5877T>G (p.Asp1959Glu)
c.2223T>G (p.Asp741Glu)
c.6117T>G (p.Asp2039Glu)
c.6108T>G (p.Asp2036Glu)
c.6123T>G (p.Asp2041Glu)
c.420T>G (p.Asp140Glu)
 gnomAD v4
Xg.32287573A>GCA515860635DMDc.1092T>C (p.Asp364=)
c.6246T>C (p.Asp2082=)
c.2214T>C (p.Asp738=)
c.6234T>C (p.Asp2078=)
n.336-70510T>C
c.6222T>C (p.Asp2074=)
c.5877T>C (p.Asp1959=)
c.2223T>C (p.Asp741=)
c.6117T>C (p.Asp2039=)
c.6108T>C (p.Asp2036=)
c.6123T>C (p.Asp2041=)
c.420T>C (p.Asp140=)
 gnomAD v4
Xg.32287573A>TCA412665846DMDc.1092T>A (p.Asp364Glu)
c.6246T>A (p.Asp2082Glu)
c.2214T>A (p.Asp738Glu)
c.6234T>A (p.Asp2078Glu)
n.336-70510T>A
c.6222T>A (p.Asp2074Glu)
c.5877T>A (p.Asp1959Glu)
c.2223T>A (p.Asp741Glu)
c.6117T>A (p.Asp2039Glu)
c.6108T>A (p.Asp2036Glu)
c.6123T>A (p.Asp2041Glu)
c.420T>A (p.Asp140Glu)
Xg.32287573_32287575delinsTACA2695232713DMDc.1090_1092delinsTA (p.Asp364TyrfsTer?)
c.6244_6246delinsTA (p.Asp2082TyrfsTer?)
c.2212_2214delinsTA (p.Asp738TyrfsTer?)
c.6232_6234delinsTA (p.Asp2078TyrfsTer?)
n.336-70512_336-70510delinsTA
c.6220_6222delinsTA (p.Asp2074TyrfsTer?)
c.5875_5877delinsTA (p.Asp1959TyrfsTer?)
c.2221_2223delinsTA (p.Asp741TyrfsTer?)
c.6115_6117delinsTA (p.Asp2039TyrfsTer?)
c.6106_6108delinsTA (p.Asp2036TyrfsTer?)
c.6121_6123delinsTA (p.Asp2041TyrfsTer?)
c.418_420delinsTA (p.Asp140TyrfsTer?)
Xg.32287574T>ACA412665847DMDc.1091A>T (p.Asp364Val)
c.6245A>T (p.Asp2082Val)
c.2213A>T (p.Asp738Val)
c.6233A>T (p.Asp2078Val)
n.336-70511A>T
c.6221A>T (p.Asp2074Val)
c.5876A>T (p.Asp1959Val)
c.2222A>T (p.Asp741Val)
c.6116A>T (p.Asp2039Val)
c.6107A>T (p.Asp2036Val)
c.6122A>T (p.Asp2041Val)
c.419A>T (p.Asp140Val)
Xg.32287574T>CCA412665849DMDc.1091A>G (p.Asp364Gly)
c.6245A>G (p.Asp2082Gly)
c.2213A>G (p.Asp738Gly)
c.6233A>G (p.Asp2078Gly)
n.336-70511A>G
c.6221A>G (p.Asp2074Gly)
c.5876A>G (p.Asp1959Gly)
c.2222A>G (p.Asp741Gly)
c.6116A>G (p.Asp2039Gly)
c.6107A>G (p.Asp2036Gly)
c.6122A>G (p.Asp2041Gly)
c.419A>G (p.Asp140Gly)
Xg.32287574T>GCA412665853DMDc.1091A>C (p.Asp364Ala)
c.6245A>C (p.Asp2082Ala)
c.2213A>C (p.Asp738Ala)
c.6233A>C (p.Asp2078Ala)
n.336-70511A>C
c.6221A>C (p.Asp2074Ala)
c.5876A>C (p.Asp1959Ala)
c.2222A>C (p.Asp741Ala)
c.6116A>C (p.Asp2039Ala)
c.6107A>C (p.Asp2036Ala)
c.6122A>C (p.Asp2041Ala)
c.419A>C (p.Asp140Ala)
Xg.32287575C>ACA412665854DMDc.1090G>T (p.Asp364Tyr)
c.6244G>T (p.Asp2082Tyr)
c.2212G>T (p.Asp738Tyr)
c.6232G>T (p.Asp2078Tyr)
n.336-70512G>T
c.6220G>T (p.Asp2074Tyr)
c.5875G>T (p.Asp1959Tyr)
c.2221G>T (p.Asp741Tyr)
c.6115G>T (p.Asp2039Tyr)
c.6106G>T (p.Asp2036Tyr)
c.6121G>T (p.Asp2041Tyr)
c.418G>T (p.Asp140Tyr)
Xg.32287575C>GCA412665856DMDc.1090G>C (p.Asp364His)
c.6244G>C (p.Asp2082His)
c.2212G>C (p.Asp738His)
c.6232G>C (p.Asp2078His)
n.336-70512G>C
c.6220G>C (p.Asp2074His)
c.5875G>C (p.Asp1959His)
c.2221G>C (p.Asp741His)
c.6115G>C (p.Asp2039His)
c.6106G>C (p.Asp2036His)
c.6121G>C (p.Asp2041His)
c.418G>C (p.Asp140His)
 COSMIC COSMIC COSMIC
Xg.32287575C>TCA412665857DMDc.1090G>A (p.Asp364Asn)
c.6244G>A (p.Asp2082Asn)
c.2212G>A (p.Asp738Asn)
c.6232G>A (p.Asp2078Asn)
n.336-70512G>A
c.6220G>A (p.Asp2074Asn)
c.5875G>A (p.Asp1959Asn)
c.2221G>A (p.Asp741Asn)
c.6115G>A (p.Asp2039Asn)
c.6106G>A (p.Asp2036Asn)
c.6121G>A (p.Asp2041Asn)
c.418G>A (p.Asp140Asn)
Xg.32287576A>CCA515860638DMDc.1089T>G (p.Leu363=)
c.6243T>G (p.Leu2081=)
c.2211T>G (p.Leu737=)
c.6231T>G (p.Leu2077=)
n.336-70513T>G
c.6219T>G (p.Leu2073=)
c.5874T>G (p.Leu1958=)
c.2220T>G (p.Leu740=)
c.6114T>G (p.Leu2038=)
c.6105T>G (p.Leu2035=)
c.6120T>G (p.Leu2040=)
c.417T>G (p.Leu139=)
Xg.32287576A>GCA515860636DMDc.1089T>C (p.Leu363=)
c.6243T>C (p.Leu2081=)
c.2211T>C (p.Leu737=)
c.6231T>C (p.Leu2077=)
n.336-70513T>C
c.6219T>C (p.Leu2073=)
c.5874T>C (p.Leu1958=)
c.2220T>C (p.Leu740=)
c.6114T>C (p.Leu2038=)
c.6105T>C (p.Leu2035=)
c.6120T>C (p.Leu2040=)
c.417T>C (p.Leu139=)
Xg.32287576A>TCA515860637DMDc.1089T>A (p.Leu363=)
c.6243T>A (p.Leu2081=)
c.2211T>A (p.Leu737=)
c.6231T>A (p.Leu2077=)
n.336-70513T>A
c.6219T>A (p.Leu2073=)
c.5874T>A (p.Leu1958=)
c.2220T>A (p.Leu740=)
c.6114T>A (p.Leu2038=)
c.6105T>A (p.Leu2035=)
c.6120T>A (p.Leu2040=)
c.417T>A (p.Leu139=)
Xg.32287577A>CCA412665860DMDc.1088T>G (p.Leu363Arg)
c.6242T>G (p.Leu2081Arg)
c.2210T>G (p.Leu737Arg)
c.6230T>G (p.Leu2077Arg)
n.336-70514T>G
c.6218T>G (p.Leu2073Arg)
c.5873T>G (p.Leu1958Arg)
c.2219T>G (p.Leu740Arg)
c.6113T>G (p.Leu2038Arg)
c.6104T>G (p.Leu2035Arg)
c.6119T>G (p.Leu2040Arg)
c.416T>G (p.Leu139Arg)
Xg.32287577A>GCA412665858DMDc.1088T>C (p.Leu363Pro)
c.6242T>C (p.Leu2081Pro)
c.2210T>C (p.Leu737Pro)
c.6230T>C (p.Leu2077Pro)
n.336-70514T>C
c.6218T>C (p.Leu2073Pro)
c.5873T>C (p.Leu1958Pro)
c.2219T>C (p.Leu740Pro)
c.6113T>C (p.Leu2038Pro)
c.6104T>C (p.Leu2035Pro)
c.6119T>C (p.Leu2040Pro)
c.416T>C (p.Leu139Pro)
Xg.32287577A>TCA412665859DMDc.1088T>A (p.Leu363His)
c.6242T>A (p.Leu2081His)
c.2210T>A (p.Leu737His)
c.6230T>A (p.Leu2077His)
n.336-70514T>A
c.6218T>A (p.Leu2073His)
c.5873T>A (p.Leu1958His)
c.2219T>A (p.Leu740His)
c.6113T>A (p.Leu2038His)
c.6104T>A (p.Leu2035His)
c.6119T>A (p.Leu2040His)
c.416T>A (p.Leu139His)
Xg.32287578G>ACA412665861DMDc.1087C>T (p.Leu363Phe)
c.6241C>T (p.Leu2081Phe)
c.2209C>T (p.Leu737Phe)
c.6229C>T (p.Leu2077Phe)
n.336-70515C>T
c.6217C>T (p.Leu2073Phe)
c.5872C>T (p.Leu1958Phe)
c.2218C>T (p.Leu740Phe)
c.6112C>T (p.Leu2038Phe)
c.6103C>T (p.Leu2035Phe)
c.6118C>T (p.Leu2040Phe)
c.415C>T (p.Leu139Phe)
 ClinVar
Xg.32287578G>CCA412665862DMDc.1087C>G (p.Leu363Val)
c.6241C>G (p.Leu2081Val)
c.2209C>G (p.Leu737Val)
c.6229C>G (p.Leu2077Val)
n.336-70515C>G
c.6217C>G (p.Leu2073Val)
c.5872C>G (p.Leu1958Val)
c.2218C>G (p.Leu740Val)
c.6112C>G (p.Leu2038Val)
c.6103C>G (p.Leu2035Val)
c.6118C>G (p.Leu2040Val)
c.415C>G (p.Leu139Val)
Xg.32287578G>TCA412665867DMDc.1087C>A (p.Leu363Ile)
c.6241C>A (p.Leu2081Ile)
c.2209C>A (p.Leu737Ile)
c.6229C>A (p.Leu2077Ile)
n.336-70515C>A
c.6217C>A (p.Leu2073Ile)
c.5872C>A (p.Leu1958Ile)
c.2218C>A (p.Leu740Ile)
c.6112C>A (p.Leu2038Ile)
c.6103C>A (p.Leu2035Ile)
c.6118C>A (p.Leu2040Ile)
c.415C>A (p.Leu139Ile)
Xg.32287579C>ACA412665868DMDc.1086G>T (p.Gln362His)
c.6240G>T (p.Gln2080His)
c.2208G>T (p.Gln736His)
c.6228G>T (p.Gln2076His)
n.336-70516G>T
c.6216G>T (p.Gln2072His)
c.5871G>T (p.Gln1957His)
c.2217G>T (p.Gln739His)
c.6111G>T (p.Gln2037His)
c.6102G>T (p.Gln2034His)
c.6117G>T (p.Gln2039His)
c.414G>T (p.Gln138His)
 ClinVar dbSNP
Xg.32287579C=CA2422736414DMDc.1086G= (p.Gln362=)
c.6240G= (p.Gln2080=)
c.2208G= (p.Gln736=)
c.6228G= (p.Gln2076=)
n.336-70516G=
c.6216G= (p.Gln2072=)
c.5871G= (p.Gln1957=)
c.2217G= (p.Gln739=)
c.6111G= (p.Gln2037=)
c.6102G= (p.Gln2034=)
c.6117G= (p.Gln2039=)
c.414G= (p.Gln138=)
Xg.32287579C>GCA412665875DMDc.1086G>C (p.Gln362His)
c.6240G>C (p.Gln2080His)
c.2208G>C (p.Gln736His)
c.6228G>C (p.Gln2076His)
n.336-70516G>C
c.6216G>C (p.Gln2072His)
c.5871G>C (p.Gln1957His)
c.2217G>C (p.Gln739His)
c.6111G>C (p.Gln2037His)
c.6102G>C (p.Gln2034His)
c.6117G>C (p.Gln2039His)
c.414G>C (p.Gln138His)
Xg.32287579C>TCA515860639DMDc.1086G>A (p.Gln362=)
c.6240G>A (p.Gln2080=)
c.2208G>A (p.Gln736=)
c.6228G>A (p.Gln2076=)
n.336-70516G>A
c.6216G>A (p.Gln2072=)
c.5871G>A (p.Gln1957=)
c.2217G>A (p.Gln739=)
c.6111G>A (p.Gln2037=)
c.6102G>A (p.Gln2034=)
c.6117G>A (p.Gln2039=)
c.414G>A (p.Gln138=)
Xg.32287580T>ACA412665884DMDc.1085A>T (p.Gln362Leu)
c.6239A>T (p.Gln2080Leu)
c.2207A>T (p.Gln736Leu)
c.6227A>T (p.Gln2076Leu)
n.336-70517A>T
c.6215A>T (p.Gln2072Leu)
c.5870A>T (p.Gln1957Leu)
c.2216A>T (p.Gln739Leu)
c.6110A>T (p.Gln2037Leu)
c.6101A>T (p.Gln2034Leu)
c.6116A>T (p.Gln2039Leu)
c.413A>T (p.Gln138Leu)
Xg.32287580T>CCA412665877DMDc.1085A>G (p.Gln362Arg)
c.6239A>G (p.Gln2080Arg)
c.2207A>G (p.Gln736Arg)
c.6227A>G (p.Gln2076Arg)
n.336-70517A>G
c.6215A>G (p.Gln2072Arg)
c.5870A>G (p.Gln1957Arg)
c.2216A>G (p.Gln739Arg)
c.6110A>G (p.Gln2037Arg)
c.6101A>G (p.Gln2034Arg)
c.6116A>G (p.Gln2039Arg)
c.413A>G (p.Gln138Arg)
Xg.32287580T>GCA412665879DMDc.1085A>C (p.Gln362Pro)
c.6239A>C (p.Gln2080Pro)
c.2207A>C (p.Gln736Pro)
c.6227A>C (p.Gln2076Pro)
n.336-70517A>C
c.6215A>C (p.Gln2072Pro)
c.5870A>C (p.Gln1957Pro)
c.2216A>C (p.Gln739Pro)
c.6110A>C (p.Gln2037Pro)
c.6101A>C (p.Gln2034Pro)
c.6116A>C (p.Gln2039Pro)
c.413A>C (p.Gln138Pro)
Xg.32287580_32287581delinsTGCA2422736415DMDc.1084_1085delinsCA (p.Gln362=)
c.6238_6239delinsCA (p.Gln2080=)
c.2206_2207delinsCA (p.Gln736=)
c.6226_6227delinsCA (p.Gln2076=)
n.336-70518_336-70517delinsCA
c.6214_6215delinsCA (p.Gln2072=)
c.5869_5870delinsCA (p.Gln1957=)
c.2215_2216delinsCA (p.Gln739=)
c.6109_6110delinsCA (p.Gln2037=)
c.6100_6101delinsCA (p.Gln2034=)
c.6115_6116delinsCA (p.Gln2039=)
c.412_413delinsCA (p.Gln138=)
Xg.32287581G>ACA412665885DMDc.1084C>T (p.Gln362Ter)
c.6238C>T (p.Gln2080Ter)
c.2206C>T (p.Gln736Ter)
c.6226C>T (p.Gln2076Ter)
n.336-70518C>T
c.6214C>T (p.Gln2072Ter)
c.5869C>T (p.Gln1957Ter)
c.2215C>T (p.Gln739Ter)
c.6109C>T (p.Gln2037Ter)
c.6100C>T (p.Gln2034Ter)
c.6115C>T (p.Gln2039Ter)
c.412C>T (p.Gln138Ter)
 ClinVar dbSNP
Xg.32287581G>CCA412665886DMDc.1084C>G (p.Gln362Glu)
c.6238C>G (p.Gln2080Glu)
c.2206C>G (p.Gln736Glu)
c.6226C>G (p.Gln2076Glu)
n.336-70518C>G
c.6214C>G (p.Gln2072Glu)
c.5869C>G (p.Gln1957Glu)
c.2215C>G (p.Gln739Glu)
c.6109C>G (p.Gln2037Glu)
c.6100C>G (p.Gln2034Glu)
c.6115C>G (p.Gln2039Glu)
c.412C>G (p.Gln138Glu)
 ClinVar dbSNP gnomAD v4
Xg.32287581G=CA2422736416DMDc.1084C= (p.Gln362=)
c.6238C= (p.Gln2080=)
c.2206C= (p.Gln736=)
c.6226C= (p.Gln2076=)
n.336-70518C=
c.6214C= (p.Gln2072=)
c.5869C= (p.Gln1957=)
c.2215C= (p.Gln739=)
c.6109C= (p.Gln2037=)
c.6100C= (p.Gln2034=)
c.6115C= (p.Gln2039=)
c.412C= (p.Gln138=)
Xg.32287581G>TCA412665887DMDc.1084C>A (p.Gln362Lys)
c.6238C>A (p.Gln2080Lys)
c.2206C>A (p.Gln736Lys)
c.6226C>A (p.Gln2076Lys)
n.336-70518C>A
c.6214C>A (p.Gln2072Lys)
c.5869C>A (p.Gln1957Lys)
c.2215C>A (p.Gln739Lys)
c.6109C>A (p.Gln2037Lys)
c.6100C>A (p.Gln2034Lys)
c.6115C>A (p.Gln2039Lys)
c.412C>A (p.Gln138Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287583delCA275273DMDc.1084del (p.Gln362SerfsTer?)
c.6238del (p.Gln2080SerfsTer?)
c.2206del (p.Gln736SerfsTer?)
c.6226del (p.Gln2076SerfsTer?)
n.336-70518del
c.6214del (p.Gln2072SerfsTer?)
c.5869del (p.Gln1957SerfsTer?)
c.2215del (p.Gln739SerfsTer?)
c.6109del (p.Gln2037SerfsTer?)
c.6100del (p.Gln2034SerfsTer?)
c.6115del (p.Gln2039SerfsTer?)
c.412del (p.Gln138SerfsTer?)
 ClinVar dbSNP
Xg.32287582_32287583delCA2695232714DMDc.1083_1084del (p.Gln362AlafsTer2)
c.6237_6238del (p.Gln2080AlafsTer2)
c.2205_2206del (p.Gln736AlafsTer2)
c.6225_6226del (p.Gln2076AlafsTer2)
n.336-70519_336-70518del
c.6213_6214del (p.Gln2072AlafsTer2)
c.5868_5869del (p.Gln1957AlafsTer2)
c.2214_2215del (p.Gln739AlafsTer2)
c.6108_6109del (p.Gln2037AlafsTer2)
c.6099_6100del (p.Gln2034AlafsTer2)
c.6114_6115del (p.Gln2039AlafsTer2)
c.411_412del (p.Gln138AlafsTer2)
Xg.32287582G>ACA515860640DMDc.1083C>T (p.Ser361=)
c.6237C>T (p.Ser2079=)
c.2205C>T (p.Ser735=)
c.6225C>T (p.Ser2075=)
n.336-70519C>T
c.6213C>T (p.Ser2071=)
c.5868C>T (p.Ser1956=)
c.2214C>T (p.Ser738=)
c.6108C>T (p.Ser2036=)
c.6099C>T (p.Ser2033=)
c.6114C>T (p.Ser2038=)
c.411C>T (p.Ser137=)
 dbSNP gnomAD v3 gnomAD v4
Xg.32287582G>CCA515860641DMDc.1083C>G (p.Ser361=)
c.6237C>G (p.Ser2079=)
c.2205C>G (p.Ser735=)
c.6225C>G (p.Ser2075=)
n.336-70519C>G
c.6213C>G (p.Ser2071=)
c.5868C>G (p.Ser1956=)
c.2214C>G (p.Ser738=)
c.6108C>G (p.Ser2036=)
c.6099C>G (p.Ser2033=)
c.6114C>G (p.Ser2038=)
c.411C>G (p.Ser137=)
Xg.32287582G=CA2422736417DMDc.1083C= (p.Ser361=)
c.6237C= (p.Ser2079=)
c.2205C= (p.Ser735=)
c.6225C= (p.Ser2075=)
n.336-70519C=
c.6213C= (p.Ser2071=)
c.5868C= (p.Ser1956=)
c.2214C= (p.Ser738=)
c.6108C= (p.Ser2036=)
c.6099C= (p.Ser2033=)
c.6114C= (p.Ser2038=)
c.411C= (p.Ser137=)
Xg.32287582G>TCA515860642DMDc.1083C>A (p.Ser361=)
c.6237C>A (p.Ser2079=)
c.2205C>A (p.Ser735=)
c.6225C>A (p.Ser2075=)
n.336-70519C>A
c.6213C>A (p.Ser2071=)
c.5868C>A (p.Ser1956=)
c.2214C>A (p.Ser738=)
c.6108C>A (p.Ser2036=)
c.6099C>A (p.Ser2033=)
c.6114C>A (p.Ser2038=)
c.411C>A (p.Ser137=)
Xg.32287583G>ACA412665888DMDc.1082C>T (p.Ser361Phe)
c.6236C>T (p.Ser2079Phe)
c.2204C>T (p.Ser735Phe)
c.6224C>T (p.Ser2075Phe)
n.336-70520C>T
c.6212C>T (p.Ser2071Phe)
c.5867C>T (p.Ser1956Phe)
c.2213C>T (p.Ser738Phe)
c.6107C>T (p.Ser2036Phe)
c.6098C>T (p.Ser2033Phe)
c.6113C>T (p.Ser2038Phe)
c.410C>T (p.Ser137Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.32287583G>CCA412665889DMDc.1082C>G (p.Ser361Cys)
c.6236C>G (p.Ser2079Cys)
c.2204C>G (p.Ser735Cys)
c.6224C>G (p.Ser2075Cys)
n.336-70520C>G
c.6212C>G (p.Ser2071Cys)
c.5867C>G (p.Ser1956Cys)
c.2213C>G (p.Ser738Cys)
c.6107C>G (p.Ser2036Cys)
c.6098C>G (p.Ser2033Cys)
c.6113C>G (p.Ser2038Cys)
c.410C>G (p.Ser137Cys)
 dbSNP
Xg.32287583G=CA2422736418DMDc.1082C= (p.Ser361=)
c.6236C= (p.Ser2079=)
c.2204C= (p.Ser735=)
c.6224C= (p.Ser2075=)
n.336-70520C=
c.6212C= (p.Ser2071=)
c.5867C= (p.Ser1956=)
c.2213C= (p.Ser738=)
c.6107C= (p.Ser2036=)
c.6098C= (p.Ser2033=)
c.6113C= (p.Ser2038=)
c.410C= (p.Ser137=)
Xg.32287583G>TCA412665890DMDc.1082C>A (p.Ser361Tyr)
c.6236C>A (p.Ser2079Tyr)
c.2204C>A (p.Ser735Tyr)
c.6224C>A (p.Ser2075Tyr)
n.336-70520C>A
c.6212C>A (p.Ser2071Tyr)
c.5867C>A (p.Ser1956Tyr)
c.2213C>A (p.Ser738Tyr)
c.6107C>A (p.Ser2036Tyr)
c.6098C>A (p.Ser2033Tyr)
c.6113C>A (p.Ser2038Tyr)
c.410C>A (p.Ser137Tyr)
Xg.32287584A=CA2422736419DMDc.1081T= (p.Ser361=)
c.6235T= (p.Ser2079=)
c.2203T= (p.Ser735=)
c.6223T= (p.Ser2075=)
n.336-70521T=
c.6211T= (p.Ser2071=)
c.5866T= (p.Ser1956=)
c.2212T= (p.Ser738=)
c.6106T= (p.Ser2036=)
c.6097T= (p.Ser2033=)
c.6112T= (p.Ser2038=)
c.409T= (p.Ser137=)
Xg.32287584A>CCA412665891DMDc.1081T>G (p.Ser361Ala)
c.6235T>G (p.Ser2079Ala)
c.2203T>G (p.Ser735Ala)
c.6223T>G (p.Ser2075Ala)
n.336-70521T>G
c.6211T>G (p.Ser2071Ala)
c.5866T>G (p.Ser1956Ala)
c.2212T>G (p.Ser738Ala)
c.6106T>G (p.Ser2036Ala)
c.6097T>G (p.Ser2033Ala)
c.6112T>G (p.Ser2038Ala)
c.409T>G (p.Ser137Ala)
Xg.32287584A>GCA412665893DMDc.1081T>C (p.Ser361Pro)
c.6235T>C (p.Ser2079Pro)
c.2203T>C (p.Ser735Pro)
c.6223T>C (p.Ser2075Pro)
n.336-70521T>C
c.6211T>C (p.Ser2071Pro)
c.5866T>C (p.Ser1956Pro)
c.2212T>C (p.Ser738Pro)
c.6106T>C (p.Ser2036Pro)
c.6097T>C (p.Ser2033Pro)
c.6112T>C (p.Ser2038Pro)
c.409T>C (p.Ser137Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287584A>TCA412665896DMDc.1081T>A (p.Ser361Thr)
c.6235T>A (p.Ser2079Thr)
c.2203T>A (p.Ser735Thr)
c.6223T>A (p.Ser2075Thr)
n.336-70521T>A
c.6211T>A (p.Ser2071Thr)
c.5866T>A (p.Ser1956Thr)
c.2212T>A (p.Ser738Thr)
c.6106T>A (p.Ser2036Thr)
c.6097T>A (p.Ser2033Thr)
c.6112T>A (p.Ser2038Thr)
c.409T>A (p.Ser137Thr)
Xg.32287585G>ACA515860643DMDc.1080C>T (p.Leu360=)
c.6234C>T (p.Leu2078=)
c.2202C>T (p.Leu734=)
c.6222C>T (p.Leu2074=)
n.336-70522C>T
c.6210C>T (p.Leu2070=)
c.5865C>T (p.Leu1955=)
c.2211C>T (p.Leu737=)
c.6105C>T (p.Leu2035=)
c.6096C>T (p.Leu2032=)
c.6111C>T (p.Leu2037=)
c.408C>T (p.Leu136=)
 gnomAD v4
Xg.32287585G>CCA515860644DMDc.1080C>G (p.Leu360=)
c.6234C>G (p.Leu2078=)
c.2202C>G (p.Leu734=)
c.6222C>G (p.Leu2074=)
n.336-70522C>G
c.6210C>G (p.Leu2070=)
c.5865C>G (p.Leu1955=)
c.2211C>G (p.Leu737=)
c.6105C>G (p.Leu2035=)
c.6096C>G (p.Leu2032=)
c.6111C>G (p.Leu2037=)
c.408C>G (p.Leu136=)
Xg.32287585G>TCA515860646DMDc.1080C>A (p.Leu360=)
c.6234C>A (p.Leu2078=)
c.2202C>A (p.Leu734=)
c.6222C>A (p.Leu2074=)
n.336-70522C>A
c.6210C>A (p.Leu2070=)
c.5865C>A (p.Leu1955=)
c.2211C>A (p.Leu737=)
c.6105C>A (p.Leu2035=)
c.6096C>A (p.Leu2032=)
c.6111C>A (p.Leu2037=)
c.408C>A (p.Leu136=)
Xg.32287586A>CCA412665898DMDc.1079T>G (p.Leu360Arg)
c.6233T>G (p.Leu2078Arg)
c.2201T>G (p.Leu734Arg)
c.6221T>G (p.Leu2074Arg)
n.336-70523T>G
c.6209T>G (p.Leu2070Arg)
c.5864T>G (p.Leu1955Arg)
c.2210T>G (p.Leu737Arg)
c.6104T>G (p.Leu2035Arg)
c.6095T>G (p.Leu2032Arg)
c.6110T>G (p.Leu2037Arg)
c.407T>G (p.Leu136Arg)
Xg.32287586A>GCA412665899DMDc.1079T>C (p.Leu360Pro)
c.6233T>C (p.Leu2078Pro)
c.2201T>C (p.Leu734Pro)
c.6221T>C (p.Leu2074Pro)
n.336-70523T>C
c.6209T>C (p.Leu2070Pro)
c.5864T>C (p.Leu1955Pro)
c.2210T>C (p.Leu737Pro)
c.6104T>C (p.Leu2035Pro)
c.6095T>C (p.Leu2032Pro)
c.6110T>C (p.Leu2037Pro)
c.407T>C (p.Leu136Pro)
Xg.32287586A>TCA412665900DMDc.1079T>A (p.Leu360His)
c.6233T>A (p.Leu2078His)
c.2201T>A (p.Leu734His)
c.6221T>A (p.Leu2074His)
n.336-70523T>A
c.6209T>A (p.Leu2070His)
c.5864T>A (p.Leu1955His)
c.2210T>A (p.Leu737His)
c.6104T>A (p.Leu2035His)
c.6095T>A (p.Leu2032His)
c.6110T>A (p.Leu2037His)
c.407T>A (p.Leu136His)
Xg.32287587G>ACA10603895DMDc.1078C>T (p.Leu360Phe)
c.6232C>T (p.Leu2078Phe)
c.2200C>T (p.Leu734Phe)
c.6220C>T (p.Leu2074Phe)
n.336-70524C>T
c.6208C>T (p.Leu2070Phe)
c.5863C>T (p.Leu1955Phe)
c.2209C>T (p.Leu737Phe)
c.6103C>T (p.Leu2035Phe)
c.6094C>T (p.Leu2032Phe)
c.6109C>T (p.Leu2037Phe)
c.406C>T (p.Leu136Phe)
 ClinVar dbSNP gnomAD v4
Xg.32287587G>CCA412665902DMDc.1078C>G (p.Leu360Val)
c.6232C>G (p.Leu2078Val)
c.2200C>G (p.Leu734Val)
c.6220C>G (p.Leu2074Val)
n.336-70524C>G
c.6208C>G (p.Leu2070Val)
c.5863C>G (p.Leu1955Val)
c.2209C>G (p.Leu737Val)
c.6103C>G (p.Leu2035Val)
c.6094C>G (p.Leu2032Val)
c.6109C>G (p.Leu2037Val)
c.406C>G (p.Leu136Val)
Xg.32287587G=CA2422736420DMDc.1078C= (p.Leu360=)
c.6232C= (p.Leu2078=)
c.2200C= (p.Leu734=)
c.6220C= (p.Leu2074=)
n.336-70524C=
c.6208C= (p.Leu2070=)
c.5863C= (p.Leu1955=)
c.2209C= (p.Leu737=)
c.6103C= (p.Leu2035=)
c.6094C= (p.Leu2032=)
c.6109C= (p.Leu2037=)
c.406C= (p.Leu136=)
Xg.32287587G>TCA10378508DMDc.1078C>A (p.Leu360Ile)
c.6232C>A (p.Leu2078Ile)
c.2200C>A (p.Leu734Ile)
c.6220C>A (p.Leu2074Ile)
n.336-70524C>A
c.6208C>A (p.Leu2070Ile)
c.5863C>A (p.Leu1955Ile)
c.2209C>A (p.Leu737Ile)
c.6103C>A (p.Leu2035Ile)
c.6094C>A (p.Leu2032Ile)
c.6109C>A (p.Leu2037Ile)
c.406C>A (p.Leu136Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287588A>CCA515860652DMDc.1077T>G (p.Ala359=)
c.6231T>G (p.Ala2077=)
c.2199T>G (p.Ala733=)
c.6219T>G (p.Ala2073=)
n.336-70525T>G
c.6207T>G (p.Ala2069=)
c.5862T>G (p.Ala1954=)
c.2208T>G (p.Ala736=)
c.6102T>G (p.Ala2034=)
c.6093T>G (p.Ala2031=)
c.6108T>G (p.Ala2036=)
c.405T>G (p.Ala135=)
Xg.32287588A>GCA515860654DMDc.1077T>C (p.Ala359=)
c.6231T>C (p.Ala2077=)
c.2199T>C (p.Ala733=)
c.6219T>C (p.Ala2073=)
n.336-70525T>C
c.6207T>C (p.Ala2069=)
c.5862T>C (p.Ala1954=)
c.2208T>C (p.Ala736=)
c.6102T>C (p.Ala2034=)
c.6093T>C (p.Ala2031=)
c.6108T>C (p.Ala2036=)
c.405T>C (p.Ala135=)
Xg.32287588A>TCA515860656DMDc.1077T>A (p.Ala359=)
c.6231T>A (p.Ala2077=)
c.2199T>A (p.Ala733=)
c.6219T>A (p.Ala2073=)
n.336-70525T>A
c.6207T>A (p.Ala2069=)
c.5862T>A (p.Ala1954=)
c.2208T>A (p.Ala736=)
c.6102T>A (p.Ala2034=)
c.6093T>A (p.Ala2031=)
c.6108T>A (p.Ala2036=)
c.405T>A (p.Ala135=)
Xg.32287589G>ACA412665904DMDc.1076C>T (p.Ala359Val)
c.6230C>T (p.Ala2077Val)
c.2198C>T (p.Ala733Val)
c.6218C>T (p.Ala2073Val)
n.336-70526C>T
c.6206C>T (p.Ala2069Val)
c.5861C>T (p.Ala1954Val)
c.2207C>T (p.Ala736Val)
c.6101C>T (p.Ala2034Val)
c.6092C>T (p.Ala2031Val)
c.6107C>T (p.Ala2036Val)
c.404C>T (p.Ala135Val)
Xg.32287589G>CCA412665905DMDc.1076C>G (p.Ala359Gly)
c.6230C>G (p.Ala2077Gly)
c.2198C>G (p.Ala733Gly)
c.6218C>G (p.Ala2073Gly)
n.336-70526C>G
c.6206C>G (p.Ala2069Gly)
c.5861C>G (p.Ala1954Gly)
c.2207C>G (p.Ala736Gly)
c.6101C>G (p.Ala2034Gly)
c.6092C>G (p.Ala2031Gly)
c.6107C>G (p.Ala2036Gly)
c.404C>G (p.Ala135Gly)
Xg.32287589G>TCA412665906DMDc.1076C>A (p.Ala359Asp)
c.6230C>A (p.Ala2077Asp)
c.2198C>A (p.Ala733Asp)
c.6218C>A (p.Ala2073Asp)
n.336-70526C>A
c.6206C>A (p.Ala2069Asp)
c.5861C>A (p.Ala1954Asp)
c.2207C>A (p.Ala736Asp)
c.6101C>A (p.Ala2034Asp)
c.6092C>A (p.Ala2031Asp)
c.6107C>A (p.Ala2036Asp)
c.404C>A (p.Ala135Asp)
Xg.32287590C>ACA10378509DMDc.1075G>T (p.Ala359Ser)
c.6229G>T (p.Ala2077Ser)
c.2197G>T (p.Ala733Ser)
c.6217G>T (p.Ala2073Ser)
n.336-70527G>T
c.6205G>T (p.Ala2069Ser)
c.5860G>T (p.Ala1954Ser)
c.2206G>T (p.Ala736Ser)
c.6100G>T (p.Ala2034Ser)
c.6091G>T (p.Ala2031Ser)
c.6106G>T (p.Ala2036Ser)
c.403G>T (p.Ala135Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287590C=CA2422736421DMDc.1075G= (p.Ala359=)
c.6229G= (p.Ala2077=)
c.2197G= (p.Ala733=)
c.6217G= (p.Ala2073=)
n.336-70527G=
c.6205G= (p.Ala2069=)
c.5860G= (p.Ala1954=)
c.2206G= (p.Ala736=)
c.6100G= (p.Ala2034=)
c.6091G= (p.Ala2031=)
c.6106G= (p.Ala2036=)
c.403G= (p.Ala135=)
Xg.32287590C>GCA412665911DMDc.1075G>C (p.Ala359Pro)
c.6229G>C (p.Ala2077Pro)
c.2197G>C (p.Ala733Pro)
c.6217G>C (p.Ala2073Pro)
n.336-70527G>C
c.6205G>C (p.Ala2069Pro)
c.5860G>C (p.Ala1954Pro)
c.2206G>C (p.Ala736Pro)
c.6100G>C (p.Ala2034Pro)
c.6091G>C (p.Ala2031Pro)
c.6106G>C (p.Ala2036Pro)
c.403G>C (p.Ala135Pro)
Xg.32287590C>TCA412665912DMDc.1075G>A (p.Ala359Thr)
c.6229G>A (p.Ala2077Thr)
c.2197G>A (p.Ala733Thr)
c.6217G>A (p.Ala2073Thr)
n.336-70527G>A
c.6205G>A (p.Ala2069Thr)
c.5860G>A (p.Ala1954Thr)
c.2206G>A (p.Ala736Thr)
c.6100G>A (p.Ala2034Thr)
c.6091G>A (p.Ala2031Thr)
c.6106G>A (p.Ala2036Thr)
c.403G>A (p.Ala135Thr)
Xg.32287591T>ACA412665914DMDc.1074A>T (p.Glu358Asp)
c.6228A>T (p.Glu2076Asp)
c.2196A>T (p.Glu732Asp)
c.6216A>T (p.Glu2072Asp)
n.336-70528A>T
c.6204A>T (p.Glu2068Asp)
c.5859A>T (p.Glu1953Asp)
c.2205A>T (p.Glu735Asp)
c.6099A>T (p.Glu2033Asp)
c.6090A>T (p.Glu2030Asp)
c.6105A>T (p.Glu2035Asp)
c.402A>T (p.Glu134Asp)
Xg.32287591T>CCA515860662DMDc.1074A>G (p.Glu358=)
c.6228A>G (p.Glu2076=)
c.2196A>G (p.Glu732=)
c.6216A>G (p.Glu2072=)
n.336-70528A>G
c.6204A>G (p.Glu2068=)
c.5859A>G (p.Glu1953=)
c.2205A>G (p.Glu735=)
c.6099A>G (p.Glu2033=)
c.6090A>G (p.Glu2030=)
c.6105A>G (p.Glu2035=)
c.402A>G (p.Glu134=)
Xg.32287591T>GCA412665916DMDc.1074A>C (p.Glu358Asp)
c.6228A>C (p.Glu2076Asp)
c.2196A>C (p.Glu732Asp)
c.6216A>C (p.Glu2072Asp)
n.336-70528A>C
c.6204A>C (p.Glu2068Asp)
c.5859A>C (p.Glu1953Asp)
c.2205A>C (p.Glu735Asp)
c.6099A>C (p.Glu2033Asp)
c.6090A>C (p.Glu2030Asp)
c.6105A>C (p.Glu2035Asp)
c.402A>C (p.Glu134Asp)
Xg.32287592T>ACA412665918DMDc.1073A>T (p.Glu358Val)
c.6227A>T (p.Glu2076Val)
c.2195A>T (p.Glu732Val)
c.6215A>T (p.Glu2072Val)
n.336-70529A>T
c.6203A>T (p.Glu2068Val)
c.5858A>T (p.Glu1953Val)
c.2204A>T (p.Glu735Val)
c.6098A>T (p.Glu2033Val)
c.6089A>T (p.Glu2030Val)
c.6104A>T (p.Glu2035Val)
c.401A>T (p.Glu134Val)
Xg.32287592T>CCA412665919DMDc.1073A>G (p.Glu358Gly)
c.6227A>G (p.Glu2076Gly)
c.2195A>G (p.Glu732Gly)
c.6215A>G (p.Glu2072Gly)
n.336-70529A>G
c.6203A>G (p.Glu2068Gly)
c.5858A>G (p.Glu1953Gly)
c.2204A>G (p.Glu735Gly)
c.6098A>G (p.Glu2033Gly)
c.6089A>G (p.Glu2030Gly)
c.6104A>G (p.Glu2035Gly)
c.401A>G (p.Glu134Gly)
 gnomAD v4
Xg.32287592T>GCA412665921DMDc.1073A>C (p.Glu358Ala)
c.6227A>C (p.Glu2076Ala)
c.2195A>C (p.Glu732Ala)
c.6215A>C (p.Glu2072Ala)
n.336-70529A>C
c.6203A>C (p.Glu2068Ala)
c.5858A>C (p.Glu1953Ala)
c.2204A>C (p.Glu735Ala)
c.6098A>C (p.Glu2033Ala)
c.6089A>C (p.Glu2030Ala)
c.6104A>C (p.Glu2035Ala)
c.401A>C (p.Glu134Ala)
Xg.32287593C>ACA267101DMDc.1072G>T (p.Glu358Ter)
c.6226G>T (p.Glu2076Ter)
c.2194G>T (p.Glu732Ter)
c.6214G>T (p.Glu2072Ter)
n.336-70530G>T
c.6202G>T (p.Glu2068Ter)
c.5857G>T (p.Glu1953Ter)
c.2203G>T (p.Glu735Ter)
c.6097G>T (p.Glu2033Ter)
c.6088G>T (p.Glu2030Ter)
c.6103G>T (p.Glu2035Ter)
c.400G>T (p.Glu134Ter)
 ClinVar dbSNP
Xg.32287593C=CA2422736422DMDc.1072G= (p.Glu358=)
c.6226G= (p.Glu2076=)
c.2194G= (p.Glu732=)
c.6214G= (p.Glu2072=)
n.336-70530G=
c.6202G= (p.Glu2068=)
c.5857G= (p.Glu1953=)
c.2203G= (p.Glu735=)
c.6097G= (p.Glu2033=)
c.6088G= (p.Glu2030=)
c.6103G= (p.Glu2035=)
c.400G= (p.Glu134=)
Xg.32287593C>GCA412665926DMDc.1072G>C (p.Glu358Gln)
c.6226G>C (p.Glu2076Gln)
c.2194G>C (p.Glu732Gln)
c.6214G>C (p.Glu2072Gln)
n.336-70530G>C
c.6202G>C (p.Glu2068Gln)
c.5857G>C (p.Glu1953Gln)
c.2203G>C (p.Glu735Gln)
c.6097G>C (p.Glu2033Gln)
c.6088G>C (p.Glu2030Gln)
c.6103G>C (p.Glu2035Gln)
c.400G>C (p.Glu134Gln)
Xg.32287593C>TCA412665923DMDc.1072G>A (p.Glu358Lys)
c.6226G>A (p.Glu2076Lys)
c.2194G>A (p.Glu732Lys)
c.6214G>A (p.Glu2072Lys)
n.336-70530G>A
c.6202G>A (p.Glu2068Lys)
c.5857G>A (p.Glu1953Lys)
c.2203G>A (p.Glu735Lys)
c.6097G>A (p.Glu2033Lys)
c.6088G>A (p.Glu2030Lys)
c.6103G>A (p.Glu2035Lys)
c.400G>A (p.Glu134Lys)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32287594C>ACA412665929DMDc.1071G>T (p.Gln357His)
c.6225G>T (p.Gln2075His)
c.2193G>T (p.Gln731His)
c.6213G>T (p.Gln2071His)
n.336-70531G>T
c.6201G>T (p.Gln2067His)
c.5856G>T (p.Gln1952His)
c.2202G>T (p.Gln734His)
c.6096G>T (p.Gln2032His)
c.6087G>T (p.Gln2029His)
c.6102G>T (p.Gln2034His)
c.399G>T (p.Gln133His)
Xg.32287594C=CA2422736423DMDc.1071G= (p.Gln357=)
c.6225G= (p.Gln2075=)
c.2193G= (p.Gln731=)
c.6213G= (p.Gln2071=)
n.336-70531G=
c.6201G= (p.Gln2067=)
c.5856G= (p.Gln1952=)
c.2202G= (p.Gln734=)
c.6096G= (p.Gln2032=)
c.6087G= (p.Gln2029=)
c.6102G= (p.Gln2034=)
c.399G= (p.Gln133=)
Xg.32287594C>GCA412665933DMDc.1071G>C (p.Gln357His)
c.6225G>C (p.Gln2075His)
c.2193G>C (p.Gln731His)
c.6213G>C (p.Gln2071His)
n.336-70531G>C
c.6201G>C (p.Gln2067His)
c.5856G>C (p.Gln1952His)
c.2202G>C (p.Gln734His)
c.6096G>C (p.Gln2032His)
c.6087G>C (p.Gln2029His)
c.6102G>C (p.Gln2034His)
c.399G>C (p.Gln133His)
Xg.32287594C>TCA515860670DMDc.1071G>A (p.Gln357=)
c.6225G>A (p.Gln2075=)
c.2193G>A (p.Gln731=)
c.6213G>A (p.Gln2071=)
n.336-70531G>A
c.6201G>A (p.Gln2067=)
c.5856G>A (p.Gln1952=)
c.2202G>A (p.Gln734=)
c.6096G>A (p.Gln2032=)
c.6087G>A (p.Gln2029=)
c.6102G>A (p.Gln2034=)
c.399G>A (p.Gln133=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287595T>ACA412665935DMDc.1070A>T (p.Gln357Leu)
c.6224A>T (p.Gln2075Leu)
c.2192A>T (p.Gln731Leu)
c.6212A>T (p.Gln2071Leu)
n.336-70532A>T
c.6200A>T (p.Gln2067Leu)
c.5855A>T (p.Gln1952Leu)
c.2201A>T (p.Gln734Leu)
c.6095A>T (p.Gln2032Leu)
c.6086A>T (p.Gln2029Leu)
c.6101A>T (p.Gln2034Leu)
c.398A>T (p.Gln133Leu)
Xg.32287595T>CCA412665937DMDc.1070A>G (p.Gln357Arg)
c.6224A>G (p.Gln2075Arg)
c.2192A>G (p.Gln731Arg)
c.6212A>G (p.Gln2071Arg)
n.336-70532A>G
c.6200A>G (p.Gln2067Arg)
c.5855A>G (p.Gln1952Arg)
c.2201A>G (p.Gln734Arg)
c.6095A>G (p.Gln2032Arg)
c.6086A>G (p.Gln2029Arg)
c.6101A>G (p.Gln2034Arg)
c.398A>G (p.Gln133Arg)
 dbSNP
Xg.32287595T>GCA412665941DMDc.1070A>C (p.Gln357Pro)
c.6224A>C (p.Gln2075Pro)
c.2192A>C (p.Gln731Pro)
c.6212A>C (p.Gln2071Pro)
n.336-70532A>C
c.6200A>C (p.Gln2067Pro)
c.5855A>C (p.Gln1952Pro)
c.2201A>C (p.Gln734Pro)
c.6095A>C (p.Gln2032Pro)
c.6086A>C (p.Gln2029Pro)
c.6101A>C (p.Gln2034Pro)
c.398A>C (p.Gln133Pro)
Xg.32287595T=CA2422736424DMDc.1070A= (p.Gln357=)
c.6224A= (p.Gln2075=)
c.2192A= (p.Gln731=)
c.6212A= (p.Gln2071=)
n.336-70532A=
c.6200A= (p.Gln2067=)
c.5855A= (p.Gln1952=)
c.2201A= (p.Gln734=)
c.6095A= (p.Gln2032=)
c.6086A= (p.Gln2029=)
c.6101A= (p.Gln2034=)
c.398A= (p.Gln133=)
Xg.32287596G>ACA10605510DMDc.1069C>T (p.Gln357Ter)
c.6223C>T (p.Gln2075Ter)
c.2191C>T (p.Gln731Ter)
c.6211C>T (p.Gln2071Ter)
n.336-70533C>T
c.6199C>T (p.Gln2067Ter)
c.5854C>T (p.Gln1952Ter)
c.2200C>T (p.Gln734Ter)
c.6094C>T (p.Gln2032Ter)
c.6085C>T (p.Gln2029Ter)
c.6100C>T (p.Gln2034Ter)
c.397C>T (p.Gln133Ter)
 ClinVar dbSNP
Xg.32287596G>CCA412665945DMDc.1069C>G (p.Gln357Glu)
c.6223C>G (p.Gln2075Glu)
c.2191C>G (p.Gln731Glu)
c.6211C>G (p.Gln2071Glu)
n.336-70533C>G
c.6199C>G (p.Gln2067Glu)
c.5854C>G (p.Gln1952Glu)
c.2200C>G (p.Gln734Glu)
c.6094C>G (p.Gln2032Glu)
c.6085C>G (p.Gln2029Glu)
c.6100C>G (p.Gln2034Glu)
c.397C>G (p.Gln133Glu)
Xg.32287596G=CA2422736425DMDc.1069C= (p.Gln357=)
c.6223C= (p.Gln2075=)
c.2191C= (p.Gln731=)
c.6211C= (p.Gln2071=)
n.336-70533C=
c.6199C= (p.Gln2067=)
c.5854C= (p.Gln1952=)
c.2200C= (p.Gln734=)
c.6094C= (p.Gln2032=)
c.6085C= (p.Gln2029=)
c.6100C= (p.Gln2034=)
c.397C= (p.Gln133=)
Xg.32287596G>TCA412665948DMDc.1069C>A (p.Gln357Lys)
c.6223C>A (p.Gln2075Lys)
c.2191C>A (p.Gln731Lys)
c.6211C>A (p.Gln2071Lys)
n.336-70533C>A
c.6199C>A (p.Gln2067Lys)
c.5854C>A (p.Gln1952Lys)
c.2200C>A (p.Gln734Lys)
c.6094C>A (p.Gln2032Lys)
c.6085C>A (p.Gln2029Lys)
c.6100C>A (p.Gln2034Lys)
c.397C>A (p.Gln133Lys)
Xg.32287597delCA2579579364DMDc.1068del (p.Gln357ArgfsTer?)
c.6222del (p.Gln2075ArgfsTer?)
c.2190del (p.Gln731ArgfsTer?)
c.6210del (p.Gln2071ArgfsTer?)
n.336-70534del
c.6198del (p.Gln2067ArgfsTer?)
c.5853del (p.Gln1952ArgfsTer?)
c.2199del (p.Gln734ArgfsTer?)
c.6093del (p.Gln2032ArgfsTer?)
c.6084del (p.Gln2029ArgfsTer?)
c.6099del (p.Gln2034ArgfsTer?)
c.396del (p.Gln133ArgfsTer?)
Xg.32287597T>ACA515860675DMDc.1068A>T (p.Leu356=)
c.6222A>T (p.Leu2074=)
c.2190A>T (p.Leu730=)
c.6210A>T (p.Leu2070=)
n.336-70534A>T
c.6198A>T (p.Leu2066=)
c.5853A>T (p.Leu1951=)
c.2199A>T (p.Leu733=)
c.6093A>T (p.Leu2031=)
c.6084A>T (p.Leu2028=)
c.6099A>T (p.Leu2033=)
c.396A>T (p.Leu132=)
Xg.32287597T>CCA515860679DMDc.1068A>G (p.Leu356=)
c.6222A>G (p.Leu2074=)
c.2190A>G (p.Leu730=)
c.6210A>G (p.Leu2070=)
n.336-70534A>G
c.6198A>G (p.Leu2066=)
c.5853A>G (p.Leu1951=)
c.2199A>G (p.Leu733=)
c.6093A>G (p.Leu2031=)
c.6084A>G (p.Leu2028=)
c.6099A>G (p.Leu2033=)
c.396A>G (p.Leu132=)
 ClinVar dbSNP
Xg.32287597T>GCA515860677DMDc.1068A>C (p.Leu356=)
c.6222A>C (p.Leu2074=)
c.2190A>C (p.Leu730=)
c.6210A>C (p.Leu2070=)
n.336-70534A>C
c.6198A>C (p.Leu2066=)
c.5853A>C (p.Leu1951=)
c.2199A>C (p.Leu733=)
c.6093A>C (p.Leu2031=)
c.6084A>C (p.Leu2028=)
c.6099A>C (p.Leu2033=)
c.396A>C (p.Leu132=)
Xg.32287598A>CCA412665955DMDc.1067T>G (p.Leu356Arg)
c.6221T>G (p.Leu2074Arg)
c.2189T>G (p.Leu730Arg)
c.6209T>G (p.Leu2070Arg)
n.336-70535T>G
c.6197T>G (p.Leu2066Arg)
c.5852T>G (p.Leu1951Arg)
c.2198T>G (p.Leu733Arg)
c.6092T>G (p.Leu2031Arg)
c.6083T>G (p.Leu2028Arg)
c.6098T>G (p.Leu2033Arg)
c.395T>G (p.Leu132Arg)
Xg.32287598A>GCA412665958DMDc.1067T>C (p.Leu356Pro)
c.6221T>C (p.Leu2074Pro)
c.2189T>C (p.Leu730Pro)
c.6209T>C (p.Leu2070Pro)
n.336-70535T>C
c.6197T>C (p.Leu2066Pro)
c.5852T>C (p.Leu1951Pro)
c.2198T>C (p.Leu733Pro)
c.6092T>C (p.Leu2031Pro)
c.6083T>C (p.Leu2028Pro)
c.6098T>C (p.Leu2033Pro)
c.395T>C (p.Leu132Pro)
Xg.32287598A>TCA412665961DMDc.1067T>A (p.Leu356Gln)
c.6221T>A (p.Leu2074Gln)
c.2189T>A (p.Leu730Gln)
c.6209T>A (p.Leu2070Gln)
n.336-70535T>A
c.6197T>A (p.Leu2066Gln)
c.5852T>A (p.Leu1951Gln)
c.2198T>A (p.Leu733Gln)
c.6092T>A (p.Leu2031Gln)
c.6083T>A (p.Leu2028Gln)
c.6098T>A (p.Leu2033Gln)
c.395T>A (p.Leu132Gln)
Xg.32287599G>ACA515860683DMDc.1066C>T (p.Leu356=)
c.6220C>T (p.Leu2074=)
c.2188C>T (p.Leu730=)
c.6208C>T (p.Leu2070=)
n.336-70536C>T
c.6196C>T (p.Leu2066=)
c.5851C>T (p.Leu1951=)
c.2197C>T (p.Leu733=)
c.6091C>T (p.Leu2031=)
c.6082C>T (p.Leu2028=)
c.6097C>T (p.Leu2033=)
c.394C>T (p.Leu132=)
Xg.32287599G>CCA412665962DMDc.1066C>G (p.Leu356Val)
c.6220C>G (p.Leu2074Val)
c.2188C>G (p.Leu730Val)
c.6208C>G (p.Leu2070Val)
n.336-70536C>G
c.6196C>G (p.Leu2066Val)
c.5851C>G (p.Leu1951Val)
c.2197C>G (p.Leu733Val)
c.6091C>G (p.Leu2031Val)
c.6082C>G (p.Leu2028Val)
c.6097C>G (p.Leu2033Val)
c.394C>G (p.Leu132Val)
Xg.32287599G>TCA412665966DMDc.1066C>A (p.Leu356Ile)
c.6220C>A (p.Leu2074Ile)
c.2188C>A (p.Leu730Ile)
c.6208C>A (p.Leu2070Ile)
n.336-70536C>A
c.6196C>A (p.Leu2066Ile)
c.5851C>A (p.Leu1951Ile)
c.2197C>A (p.Leu733Ile)
c.6091C>A (p.Leu2031Ile)
c.6082C>A (p.Leu2028Ile)
c.6097C>A (p.Leu2033Ile)
c.394C>A (p.Leu132Ile)
 ClinVar
Xg.32287600C>ACA412665968DMDc.1065G>T (p.Lys355Asn)
c.6219G>T (p.Lys2073Asn)
c.2187G>T (p.Lys729Asn)
c.6207G>T (p.Lys2069Asn)
n.336-70537G>T
c.6195G>T (p.Lys2065Asn)
c.5850G>T (p.Lys1950Asn)
c.2196G>T (p.Lys732Asn)
c.6090G>T (p.Lys2030Asn)
c.6081G>T (p.Lys2027Asn)
c.6096G>T (p.Lys2032Asn)
c.393G>T (p.Lys131Asn)
Xg.32287600C>GCA412665972DMDc.1065G>C (p.Lys355Asn)
c.6219G>C (p.Lys2073Asn)
c.2187G>C (p.Lys729Asn)
c.6207G>C (p.Lys2069Asn)
n.336-70537G>C
c.6195G>C (p.Lys2065Asn)
c.5850G>C (p.Lys1950Asn)
c.2196G>C (p.Lys732Asn)
c.6090G>C (p.Lys2030Asn)
c.6081G>C (p.Lys2027Asn)
c.6096G>C (p.Lys2032Asn)
c.393G>C (p.Lys131Asn)
Xg.32287600C>TCA515860686DMDc.1065G>A (p.Lys355=)
c.6219G>A (p.Lys2073=)
c.2187G>A (p.Lys729=)
c.6207G>A (p.Lys2069=)
n.336-70537G>A
c.6195G>A (p.Lys2065=)
c.5850G>A (p.Lys1950=)
c.2196G>A (p.Lys732=)
c.6090G>A (p.Lys2030=)
c.6081G>A (p.Lys2027=)
c.6096G>A (p.Lys2032=)
c.393G>A (p.Lys131=)
Xg.32287603_32287609delCA2573158660DMDc.1059_1065del (p.Arg353SerfsTer?)
c.6213_6219del (p.Arg2071SerfsTer?)
c.2181_2187del (p.Arg727SerfsTer?)
c.6201_6207del (p.Arg2067SerfsTer?)
n.336-70543_336-70537del
c.6189_6195del (p.Arg2063SerfsTer?)
c.5844_5850del (p.Arg1948SerfsTer?)
c.2190_2196del (p.Arg730SerfsTer?)
c.6084_6090del (p.Arg2028SerfsTer?)
c.6075_6081del (p.Arg2025SerfsTer?)
c.6090_6096del (p.Arg2030SerfsTer?)
c.387_393del (p.Arg129SerfsTer?)
 ClinVar dbSNP
Xg.32287601T>ACA412665975DMDc.1064A>T (p.Lys355Met)
c.6218A>T (p.Lys2073Met)
c.2186A>T (p.Lys729Met)
c.6206A>T (p.Lys2069Met)
n.336-70538A>T
c.6194A>T (p.Lys2065Met)
c.5849A>T (p.Lys1950Met)
c.2195A>T (p.Lys732Met)
c.6089A>T (p.Lys2030Met)
c.6080A>T (p.Lys2027Met)
c.6095A>T (p.Lys2032Met)
c.392A>T (p.Lys131Met)
Xg.32287601T>CCA412665983DMDc.1064A>G (p.Lys355Arg)
c.6218A>G (p.Lys2073Arg)
c.2186A>G (p.Lys729Arg)
c.6206A>G (p.Lys2069Arg)
n.336-70538A>G
c.6194A>G (p.Lys2065Arg)
c.5849A>G (p.Lys1950Arg)
c.2195A>G (p.Lys732Arg)
c.6089A>G (p.Lys2030Arg)
c.6080A>G (p.Lys2027Arg)
c.6095A>G (p.Lys2032Arg)
c.392A>G (p.Lys131Arg)
Xg.32287601T>GCA412665978DMDc.1064A>C (p.Lys355Thr)
c.6218A>C (p.Lys2073Thr)
c.2186A>C (p.Lys729Thr)
c.6206A>C (p.Lys2069Thr)
n.336-70538A>C
c.6194A>C (p.Lys2065Thr)
c.5849A>C (p.Lys1950Thr)
c.2195A>C (p.Lys732Thr)
c.6089A>C (p.Lys2030Thr)
c.6080A>C (p.Lys2027Thr)
c.6095A>C (p.Lys2032Thr)
c.392A>C (p.Lys131Thr)
Xg.32287602T>ACA412665986DMDc.1063A>T (p.Lys355Ter)
c.6217A>T (p.Lys2073Ter)
c.2185A>T (p.Lys729Ter)
c.6205A>T (p.Lys2069Ter)
n.336-70539A>T
c.6193A>T (p.Lys2065Ter)
c.5848A>T (p.Lys1950Ter)
c.2194A>T (p.Lys732Ter)
c.6088A>T (p.Lys2030Ter)
c.6079A>T (p.Lys2027Ter)
c.6094A>T (p.Lys2032Ter)
c.391A>T (p.Lys131Ter)
 ClinVar dbSNP
Xg.32287602T>CCA10378510DMDc.1063A>G (p.Lys355Glu)
c.6217A>G (p.Lys2073Glu)
c.2185A>G (p.Lys729Glu)
c.6205A>G (p.Lys2069Glu)
n.336-70539A>G
c.6193A>G (p.Lys2065Glu)
c.5848A>G (p.Lys1950Glu)
c.2194A>G (p.Lys732Glu)
c.6088A>G (p.Lys2030Glu)
c.6079A>G (p.Lys2027Glu)
c.6094A>G (p.Lys2032Glu)
c.391A>G (p.Lys131Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287602T>GCA412665987DMDc.1063A>C (p.Lys355Gln)
c.6217A>C (p.Lys2073Gln)
c.2185A>C (p.Lys729Gln)
c.6205A>C (p.Lys2069Gln)
n.336-70539A>C
c.6193A>C (p.Lys2065Gln)
c.5848A>C (p.Lys1950Gln)
c.2194A>C (p.Lys732Gln)
c.6088A>C (p.Lys2030Gln)
c.6079A>C (p.Lys2027Gln)
c.6094A>C (p.Lys2032Gln)
c.391A>C (p.Lys131Gln)
Xg.32287602T=CA2422736426DMDc.1063A= (p.Lys355=)
c.6217A= (p.Lys2073=)
c.2185A= (p.Lys729=)
c.6205A= (p.Lys2069=)
n.336-70539A=
c.6193A= (p.Lys2065=)
c.5848A= (p.Lys1950=)
c.2194A= (p.Lys732=)
c.6088A= (p.Lys2030=)
c.6079A= (p.Lys2027=)
c.6094A= (p.Lys2032=)
c.391A= (p.Lys131=)
Xg.32287603C>ACA515860692DMDc.1062G>T (p.Val354=)
c.6216G>T (p.Val2072=)
c.2184G>T (p.Val728=)
c.6204G>T (p.Val2068=)
n.336-70540G>T
c.6192G>T (p.Val2064=)
c.5847G>T (p.Val1949=)
c.2193G>T (p.Val731=)
c.6087G>T (p.Val2029=)
c.6078G>T (p.Val2026=)
c.6093G>T (p.Val2031=)
c.390G>T (p.Val130=)
Xg.32287603C=CA2422736427DMDc.1062G= (p.Val354=)
c.6216G= (p.Val2072=)
c.2184G= (p.Val728=)
c.6204G= (p.Val2068=)
n.336-70540G=
c.6192G= (p.Val2064=)
c.5847G= (p.Val1949=)
c.2193G= (p.Val731=)
c.6087G= (p.Val2029=)
c.6078G= (p.Val2026=)
c.6093G= (p.Val2031=)
c.390G= (p.Val130=)
Xg.32287603C>GCA515860694DMDc.1062G>C (p.Val354=)
c.6216G>C (p.Val2072=)
c.2184G>C (p.Val728=)
c.6204G>C (p.Val2068=)
n.336-70540G>C
c.6192G>C (p.Val2064=)
c.5847G>C (p.Val1949=)
c.2193G>C (p.Val731=)
c.6087G>C (p.Val2029=)
c.6078G>C (p.Val2026=)
c.6093G>C (p.Val2031=)
c.390G>C (p.Val130=)
Xg.32287603C>TCA10378511DMDc.1062G>A (p.Val354=)
c.6216G>A (p.Val2072=)
c.2184G>A (p.Val728=)
c.6204G>A (p.Val2068=)
n.336-70540G>A
c.6192G>A (p.Val2064=)
c.5847G>A (p.Val1949=)
c.2193G>A (p.Val731=)
c.6087G>A (p.Val2029=)
c.6078G>A (p.Val2026=)
c.6093G>A (p.Val2031=)
c.390G>A (p.Val130=)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.32287604A>CCA412665994DMDc.1061T>G (p.Val354Gly)
c.6215T>G (p.Val2072Gly)
c.2183T>G (p.Val728Gly)
c.6203T>G (p.Val2068Gly)
n.336-70541T>G
c.6191T>G (p.Val2064Gly)
c.5846T>G (p.Val1949Gly)
c.2192T>G (p.Val731Gly)
c.6086T>G (p.Val2029Gly)
c.6077T>G (p.Val2026Gly)
c.6092T>G (p.Val2031Gly)
c.389T>G (p.Val130Gly)
Xg.32287604A>GCA412665997DMDc.1061T>C (p.Val354Ala)
c.6215T>C (p.Val2072Ala)
c.2183T>C (p.Val728Ala)
c.6203T>C (p.Val2068Ala)
n.336-70541T>C
c.6191T>C (p.Val2064Ala)
c.5846T>C (p.Val1949Ala)
c.2192T>C (p.Val731Ala)
c.6086T>C (p.Val2029Ala)
c.6077T>C (p.Val2026Ala)
c.6092T>C (p.Val2031Ala)
c.389T>C (p.Val130Ala)
 gnomAD v4
Xg.32287604A>TCA412666000DMDc.1061T>A (p.Val354Glu)
c.6215T>A (p.Val2072Glu)
c.2183T>A (p.Val728Glu)
c.6203T>A (p.Val2068Glu)
n.336-70541T>A
c.6191T>A (p.Val2064Glu)
c.5846T>A (p.Val1949Glu)
c.2192T>A (p.Val731Glu)
c.6086T>A (p.Val2029Glu)
c.6077T>A (p.Val2026Glu)
c.6092T>A (p.Val2031Glu)
c.389T>A (p.Val130Glu)
 gnomAD v4
Xg.32287605C>ACA412666006DMDc.1060G>T (p.Val354Leu)
c.6214G>T (p.Val2072Leu)
c.2182G>T (p.Val728Leu)
c.6202G>T (p.Val2068Leu)
n.336-70542G>T
c.6190G>T (p.Val2064Leu)
c.5845G>T (p.Val1949Leu)
c.2191G>T (p.Val731Leu)
c.6085G>T (p.Val2029Leu)
c.6076G>T (p.Val2026Leu)
c.6091G>T (p.Val2031Leu)
c.388G>T (p.Val130Leu)
Xg.32287605C>GCA412666008DMDc.1060G>C (p.Val354Leu)
c.6214G>C (p.Val2072Leu)
c.2182G>C (p.Val728Leu)
c.6202G>C (p.Val2068Leu)
n.336-70542G>C
c.6190G>C (p.Val2064Leu)
c.5845G>C (p.Val1949Leu)
c.2191G>C (p.Val731Leu)
c.6085G>C (p.Val2029Leu)
c.6076G>C (p.Val2026Leu)
c.6091G>C (p.Val2031Leu)
c.388G>C (p.Val130Leu)
Xg.32287605C>TCA412666011DMDc.1060G>A (p.Val354Met)
c.6214G>A (p.Val2072Met)
c.2182G>A (p.Val728Met)
c.6202G>A (p.Val2068Met)
n.336-70542G>A
c.6190G>A (p.Val2064Met)
c.5845G>A (p.Val1949Met)
c.2191G>A (p.Val731Met)
c.6085G>A (p.Val2029Met)
c.6076G>A (p.Val2026Met)
c.6091G>A (p.Val2031Met)
c.388G>A (p.Val130Met)
 COSMIC
Xg.32287606C>ACA412666014DMDc.1059G>T (p.Arg353Ser)
c.6213G>T (p.Arg2071Ser)
c.2181G>T (p.Arg727Ser)
c.6201G>T (p.Arg2067Ser)
n.336-70543G>T
c.6189G>T (p.Arg2063Ser)
c.5844G>T (p.Arg1948Ser)
c.2190G>T (p.Arg730Ser)
c.6084G>T (p.Arg2028Ser)
c.6075G>T (p.Arg2025Ser)
c.6090G>T (p.Arg2030Ser)
c.387G>T (p.Arg129Ser)
Xg.32287606C=CA2422736428DMDc.1059G= (p.Arg353=)
c.6213G= (p.Arg2071=)
c.2181G= (p.Arg727=)
c.6201G= (p.Arg2067=)
n.336-70543G=
c.6189G= (p.Arg2063=)
c.5844G= (p.Arg1948=)
c.2190G= (p.Arg730=)
c.6084G= (p.Arg2028=)
c.6075G= (p.Arg2025=)
c.6090G= (p.Arg2030=)
c.387G= (p.Arg129=)
Xg.32287606C>GCA412666017DMDc.1059G>C (p.Arg353Ser)
c.6213G>C (p.Arg2071Ser)
c.2181G>C (p.Arg727Ser)
c.6201G>C (p.Arg2067Ser)
n.336-70543G>C
c.6189G>C (p.Arg2063Ser)
c.5844G>C (p.Arg1948Ser)
c.2190G>C (p.Arg730Ser)
c.6084G>C (p.Arg2028Ser)
c.6075G>C (p.Arg2025Ser)
c.6090G>C (p.Arg2030Ser)
c.387G>C (p.Arg129Ser)
Xg.32287606C>TCA10378512DMDc.1059G>A (p.Arg353=)
c.6213G>A (p.Arg2071=)
c.2181G>A (p.Arg727=)
c.6201G>A (p.Arg2067=)
n.336-70543G>A
c.6189G>A (p.Arg2063=)
c.5844G>A (p.Arg1948=)
c.2190G>A (p.Arg730=)
c.6084G>A (p.Arg2028=)
c.6075G>A (p.Arg2025=)
c.6090G>A (p.Arg2030=)
c.387G>A (p.Arg129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287607C>ACA412666020DMDc.1058G>T (p.Arg353Met)
c.6212G>T (p.Arg2071Met)
c.2180G>T (p.Arg727Met)
c.6200G>T (p.Arg2067Met)
n.336-70544G>T
c.6188G>T (p.Arg2063Met)
c.5843G>T (p.Arg1948Met)
c.2189G>T (p.Arg730Met)
c.6083G>T (p.Arg2028Met)
c.6074G>T (p.Arg2025Met)
c.6089G>T (p.Arg2030Met)
c.386G>T (p.Arg129Met)
Xg.32287607C=CA2422736429DMDc.1058G= (p.Arg353=)
c.6212G= (p.Arg2071=)
c.2180G= (p.Arg727=)
c.6200G= (p.Arg2067=)
n.336-70544G=
c.6188G= (p.Arg2063=)
c.5843G= (p.Arg1948=)
c.2189G= (p.Arg730=)
c.6083G= (p.Arg2028=)
c.6074G= (p.Arg2025=)
c.6089G= (p.Arg2030=)
c.386G= (p.Arg129=)
Xg.32287607C>GCA328529826DMDc.1058G>C (p.Arg353Thr)
c.6212G>C (p.Arg2071Thr)
c.2180G>C (p.Arg727Thr)
c.6200G>C (p.Arg2067Thr)
n.336-70544G>C
c.6188G>C (p.Arg2063Thr)
c.5843G>C (p.Arg1948Thr)
c.2189G>C (p.Arg730Thr)
c.6083G>C (p.Arg2028Thr)
c.6074G>C (p.Arg2025Thr)
c.6089G>C (p.Arg2030Thr)
c.386G>C (p.Arg129Thr)
 ClinVar dbSNP gnomAD v4
Xg.32287607C>TCA10378513DMDc.1058G>A (p.Arg353Lys)
c.6212G>A (p.Arg2071Lys)
c.2180G>A (p.Arg727Lys)
c.6200G>A (p.Arg2067Lys)
n.336-70544G>A
c.6188G>A (p.Arg2063Lys)
c.5843G>A (p.Arg1948Lys)
c.2189G>A (p.Arg730Lys)
c.6083G>A (p.Arg2028Lys)
c.6074G>A (p.Arg2025Lys)
c.6089G>A (p.Arg2030Lys)
c.386G>A (p.Arg129Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287608T>ACA412666029DMDc.1057A>T (p.Arg353Trp)
c.6211A>T (p.Arg2071Trp)
c.2179A>T (p.Arg727Trp)
c.6199A>T (p.Arg2067Trp)
n.336-70545A>T
c.6187A>T (p.Arg2063Trp)
c.5842A>T (p.Arg1948Trp)
c.2188A>T (p.Arg730Trp)
c.6082A>T (p.Arg2028Trp)
c.6073A>T (p.Arg2025Trp)
c.6088A>T (p.Arg2030Trp)
c.385A>T (p.Arg129Trp)
Xg.32287608T>CCA412666032DMDc.1057A>G (p.Arg353Gly)
c.6211A>G (p.Arg2071Gly)
c.2179A>G (p.Arg727Gly)
c.6199A>G (p.Arg2067Gly)
n.336-70545A>G
c.6187A>G (p.Arg2063Gly)
c.5842A>G (p.Arg1948Gly)
c.2188A>G (p.Arg730Gly)
c.6082A>G (p.Arg2028Gly)
c.6073A>G (p.Arg2025Gly)
c.6088A>G (p.Arg2030Gly)
c.385A>G (p.Arg129Gly)
Xg.32287608T>GCA515860704DMDc.1057A>C (p.Arg353=)
c.6211A>C (p.Arg2071=)
c.2179A>C (p.Arg727=)
c.6199A>C (p.Arg2067=)
n.336-70545A>C
c.6187A>C (p.Arg2063=)
c.5842A>C (p.Arg1948=)
c.2188A>C (p.Arg730=)
c.6082A>C (p.Arg2028=)
c.6073A>C (p.Arg2025=)
c.6088A>C (p.Arg2030=)
c.385A>C (p.Arg129=)
Xg.32287609T>ACA412666036DMDc.1056A>T (p.Glu352Asp)
c.6210A>T (p.Glu2070Asp)
c.2178A>T (p.Glu726Asp)
c.6198A>T (p.Glu2066Asp)
n.336-70546A>T
c.6186A>T (p.Glu2062Asp)
c.5841A>T (p.Glu1947Asp)
c.2187A>T (p.Glu729Asp)
c.6081A>T (p.Glu2027Asp)
c.6072A>T (p.Glu2024Asp)
c.6087A>T (p.Glu2029Asp)
c.384A>T (p.Glu128Asp)
Xg.32287609T>CCA515860708DMDc.1056A>G (p.Glu352=)
c.6210A>G (p.Glu2070=)
c.2178A>G (p.Glu726=)
c.6198A>G (p.Glu2066=)
n.336-70546A>G
c.6186A>G (p.Glu2062=)
c.5841A>G (p.Glu1947=)
c.2187A>G (p.Glu729=)
c.6081A>G (p.Glu2027=)
c.6072A>G (p.Glu2024=)
c.6087A>G (p.Glu2029=)
c.384A>G (p.Glu128=)
Xg.32287609T>GCA412666038DMDc.1056A>C (p.Glu352Asp)
c.6210A>C (p.Glu2070Asp)
c.2178A>C (p.Glu726Asp)
c.6198A>C (p.Glu2066Asp)
n.336-70546A>C
c.6186A>C (p.Glu2062Asp)
c.5841A>C (p.Glu1947Asp)
c.2187A>C (p.Glu729Asp)
c.6081A>C (p.Glu2027Asp)
c.6072A>C (p.Glu2024Asp)
c.6087A>C (p.Glu2029Asp)
c.384A>C (p.Glu128Asp)
Xg.32287610T>ACA412666043DMDc.1055A>T (p.Glu352Val)
c.6209A>T (p.Glu2070Val)
c.2177A>T (p.Glu726Val)
c.6197A>T (p.Glu2066Val)
n.336-70547A>T
c.6185A>T (p.Glu2062Val)
c.5840A>T (p.Glu1947Val)
c.2186A>T (p.Glu729Val)
c.6080A>T (p.Glu2027Val)
c.6071A>T (p.Glu2024Val)
c.6086A>T (p.Glu2029Val)
c.383A>T (p.Glu128Val)
Xg.32287610T>CCA412666046DMDc.1055A>G (p.Glu352Gly)
c.6209A>G (p.Glu2070Gly)
c.2177A>G (p.Glu726Gly)
c.6197A>G (p.Glu2066Gly)
n.336-70547A>G
c.6185A>G (p.Glu2062Gly)
c.5840A>G (p.Glu1947Gly)
c.2186A>G (p.Glu729Gly)
c.6080A>G (p.Glu2027Gly)
c.6071A>G (p.Glu2024Gly)
c.6086A>G (p.Glu2029Gly)
c.383A>G (p.Glu128Gly)
Xg.32287610T>GCA412666050DMDc.1055A>C (p.Glu352Ala)
c.6209A>C (p.Glu2070Ala)
c.2177A>C (p.Glu726Ala)
c.6197A>C (p.Glu2066Ala)
n.336-70547A>C
c.6185A>C (p.Glu2062Ala)
c.5840A>C (p.Glu1947Ala)
c.2186A>C (p.Glu729Ala)
c.6080A>C (p.Glu2027Ala)
c.6071A>C (p.Glu2024Ala)
c.6086A>C (p.Glu2029Ala)
c.383A>C (p.Glu128Ala)
Xg.32287611C>ACA412666054DMDc.1054G>T (p.Glu352Ter)
c.6208G>T (p.Glu2070Ter)
c.2176G>T (p.Glu726Ter)
c.6196G>T (p.Glu2066Ter)
n.336-70548G>T
c.6184G>T (p.Glu2062Ter)
c.5839G>T (p.Glu1947Ter)
c.2185G>T (p.Glu729Ter)
c.6079G>T (p.Glu2027Ter)
c.6070G>T (p.Glu2024Ter)
c.6085G>T (p.Glu2029Ter)
c.382G>T (p.Glu128Ter)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287611C>GCA412666057DMDc.1054G>C (p.Glu352Gln)
c.6208G>C (p.Glu2070Gln)
c.2176G>C (p.Glu726Gln)
c.6196G>C (p.Glu2066Gln)
n.336-70548G>C
c.6184G>C (p.Glu2062Gln)
c.5839G>C (p.Glu1947Gln)
c.2185G>C (p.Glu729Gln)
c.6079G>C (p.Glu2027Gln)
c.6070G>C (p.Glu2024Gln)
c.6085G>C (p.Glu2029Gln)
c.382G>C (p.Glu128Gln)
Xg.32287611C>TCA412666060DMDc.1054G>A (p.Glu352Lys)
c.6208G>A (p.Glu2070Lys)
c.2176G>A (p.Glu726Lys)
c.6196G>A (p.Glu2066Lys)
n.336-70548G>A
c.6184G>A (p.Glu2062Lys)
c.5839G>A (p.Glu1947Lys)
c.2185G>A (p.Glu729Lys)
c.6079G>A (p.Glu2027Lys)
c.6070G>A (p.Glu2024Lys)
c.6085G>A (p.Glu2029Lys)
c.382G>A (p.Glu128Lys)
Xg.32287612C>ACA515860715DMDc.1053G>T (p.Val351=)
c.6207G>T (p.Val2069=)
c.2175G>T (p.Val725=)
c.6195G>T (p.Val2065=)
n.336-70549G>T
c.6183G>T (p.Val2061=)
c.5838G>T (p.Val1946=)
c.2184G>T (p.Val728=)
c.6078G>T (p.Val2026=)
c.6069G>T (p.Val2023=)
c.6084G>T (p.Val2028=)
c.381G>T (p.Val127=)
Xg.32287612C>GCA515860718DMDc.1053G>C (p.Val351=)
c.6207G>C (p.Val2069=)
c.2175G>C (p.Val725=)
c.6195G>C (p.Val2065=)
n.336-70549G>C
c.6183G>C (p.Val2061=)
c.5838G>C (p.Val1946=)
c.2184G>C (p.Val728=)
c.6078G>C (p.Val2026=)
c.6069G>C (p.Val2023=)
c.6084G>C (p.Val2028=)
c.381G>C (p.Val127=)
Xg.32287612C>TCA515860716DMDc.1053G>A (p.Val351=)
c.6207G>A (p.Val2069=)
c.2175G>A (p.Val725=)
c.6195G>A (p.Val2065=)
n.336-70549G>A
c.6183G>A (p.Val2061=)
c.5838G>A (p.Val1946=)
c.2184G>A (p.Val728=)
c.6078G>A (p.Val2026=)
c.6069G>A (p.Val2023=)
c.6084G>A (p.Val2028=)
c.381G>A (p.Val127=)
Xg.32287613A>CCA412666069DMDc.1052T>G (p.Val351Gly)
c.6206T>G (p.Val2069Gly)
c.2174T>G (p.Val725Gly)
c.6194T>G (p.Val2065Gly)
n.336-70550T>G
c.6182T>G (p.Val2061Gly)
c.5837T>G (p.Val1946Gly)
c.2183T>G (p.Val728Gly)
c.6077T>G (p.Val2026Gly)
c.6068T>G (p.Val2023Gly)
c.6083T>G (p.Val2028Gly)
c.380T>G (p.Val127Gly)
Xg.32287613A>GCA412666067DMDc.1052T>C (p.Val351Ala)
c.6206T>C (p.Val2069Ala)
c.2174T>C (p.Val725Ala)
c.6194T>C (p.Val2065Ala)
n.336-70550T>C
c.6182T>C (p.Val2061Ala)
c.5837T>C (p.Val1946Ala)
c.2183T>C (p.Val728Ala)
c.6077T>C (p.Val2026Ala)
c.6068T>C (p.Val2023Ala)
c.6083T>C (p.Val2028Ala)
c.380T>C (p.Val127Ala)
Xg.32287613A>TCA412666063DMDc.1052T>A (p.Val351Glu)
c.6206T>A (p.Val2069Glu)
c.2174T>A (p.Val725Glu)
c.6194T>A (p.Val2065Glu)
n.336-70550T>A
c.6182T>A (p.Val2061Glu)
c.5837T>A (p.Val1946Glu)
c.2183T>A (p.Val728Glu)
c.6077T>A (p.Val2026Glu)
c.6068T>A (p.Val2023Glu)
c.6083T>A (p.Val2028Glu)
c.380T>A (p.Val127Glu)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287613_32287614delinsACCA2422736430DMDc.1051_1052delinsGT (p.Val351=)
c.6205_6206delinsGT (p.Val2069=)
c.2173_2174delinsGT (p.Val725=)
c.6193_6194delinsGT (p.Val2065=)
n.336-70551_336-70550delinsGT
c.6181_6182delinsGT (p.Val2061=)
c.5836_5837delinsGT (p.Val1946=)
c.2182_2183delinsGT (p.Val728=)
c.6076_6077delinsGT (p.Val2026=)
c.6067_6068delinsGT (p.Val2023=)
c.6082_6083delinsGT (p.Val2028=)
c.379_380delinsGT (p.Val127=)
Xg.32287614delCA16616672DMDc.1051del (p.Val351TrpfsTer4)
c.6205del (p.Val2069TrpfsTer4)
c.2173del (p.Val725TrpfsTer4)
c.6193del (p.Val2065TrpfsTer4)
n.336-70551del
c.6181del (p.Val2061TrpfsTer4)
c.5836del (p.Val1946TrpfsTer4)
c.2182del (p.Val728TrpfsTer4)
c.6076del (p.Val2026TrpfsTer4)
c.6067del (p.Val2023TrpfsTer4)
c.6082del (p.Val2028TrpfsTer4)
c.379del (p.Val127TrpfsTer4)
 ClinVar dbSNP
Xg.32287614C>ACA412666074DMDc.1051G>T (p.Val351Leu)
c.6205G>T (p.Val2069Leu)
c.2173G>T (p.Val725Leu)
c.6193G>T (p.Val2065Leu)
n.336-70551G>T
c.6181G>T (p.Val2061Leu)
c.5836G>T (p.Val1946Leu)
c.2182G>T (p.Val728Leu)
c.6076G>T (p.Val2026Leu)
c.6067G>T (p.Val2023Leu)
c.6082G>T (p.Val2028Leu)
c.379G>T (p.Val127Leu)
Xg.32287614C>GCA412666077DMDc.1051G>C (p.Val351Leu)
c.6205G>C (p.Val2069Leu)
c.2173G>C (p.Val725Leu)
c.6193G>C (p.Val2065Leu)
n.336-70551G>C
c.6181G>C (p.Val2061Leu)
c.5836G>C (p.Val1946Leu)
c.2182G>C (p.Val728Leu)
c.6076G>C (p.Val2026Leu)
c.6067G>C (p.Val2023Leu)
c.6082G>C (p.Val2028Leu)
c.379G>C (p.Val127Leu)
Xg.32287614C>TCA412666080DMDc.1051G>A (p.Val351Met)
c.6205G>A (p.Val2069Met)
c.2173G>A (p.Val725Met)
c.6193G>A (p.Val2065Met)
n.336-70551G>A
c.6181G>A (p.Val2061Met)
c.5836G>A (p.Val1946Met)
c.2182G>A (p.Val728Met)
c.6076G>A (p.Val2026Met)
c.6067G>A (p.Val2023Met)
c.6082G>A (p.Val2028Met)
c.379G>A (p.Val127Met)
 gnomAD v4
Xg.32287615A>CCA515860725DMDc.1050T>G (p.Pro350=)
c.6204T>G (p.Pro2068=)
c.2172T>G (p.Pro724=)
c.6192T>G (p.Pro2064=)
n.336-70552T>G
c.6180T>G (p.Pro2060=)
c.5835T>G (p.Pro1945=)
c.2181T>G (p.Pro727=)
c.6075T>G (p.Pro2025=)
c.6066T>G (p.Pro2022=)
c.6081T>G (p.Pro2027=)
c.378T>G (p.Pro126=)
Xg.32287615A>GCA515860729DMDc.1050T>C (p.Pro350=)
c.6204T>C (p.Pro2068=)
c.2172T>C (p.Pro724=)
c.6192T>C (p.Pro2064=)
n.336-70552T>C
c.6180T>C (p.Pro2060=)
c.5835T>C (p.Pro1945=)
c.2181T>C (p.Pro727=)
c.6075T>C (p.Pro2025=)
c.6066T>C (p.Pro2022=)
c.6081T>C (p.Pro2027=)
c.378T>C (p.Pro126=)
Xg.32287615A>TCA515860727DMDc.1050T>A (p.Pro350=)
c.6204T>A (p.Pro2068=)
c.2172T>A (p.Pro724=)
c.6192T>A (p.Pro2064=)
n.336-70552T>A
c.6180T>A (p.Pro2060=)
c.5835T>A (p.Pro1945=)
c.2181T>A (p.Pro727=)
c.6075T>A (p.Pro2025=)
c.6066T>A (p.Pro2022=)
c.6081T>A (p.Pro2027=)
c.378T>A (p.Pro126=)
Xg.32287615_32287616delinsAGCA2422736431DMDc.1049_1050delinsCT (p.Pro350=)
c.6203_6204delinsCT (p.Pro2068=)
c.2171_2172delinsCT (p.Pro724=)
c.6191_6192delinsCT (p.Pro2064=)
n.336-70553_336-70552delinsCT
c.6179_6180delinsCT (p.Pro2060=)
c.5834_5835delinsCT (p.Pro1945=)
c.2180_2181delinsCT (p.Pro727=)
c.6074_6075delinsCT (p.Pro2025=)
c.6065_6066delinsCT (p.Pro2022=)
c.6080_6081delinsCT (p.Pro2027=)
c.377_378delinsCT (p.Pro126=)
Xg.32287616G>ACA412666085DMDc.1049C>T (p.Pro350Leu)
c.6203C>T (p.Pro2068Leu)
c.2171C>T (p.Pro724Leu)
c.6191C>T (p.Pro2064Leu)
n.336-70553C>T
c.6179C>T (p.Pro2060Leu)
c.5834C>T (p.Pro1945Leu)
c.2180C>T (p.Pro727Leu)
c.6074C>T (p.Pro2025Leu)
c.6065C>T (p.Pro2022Leu)
c.6080C>T (p.Pro2027Leu)
c.377C>T (p.Pro126Leu)
Xg.32287616G>CCA412666087DMDc.1049C>G (p.Pro350Arg)
c.6203C>G (p.Pro2068Arg)
c.2171C>G (p.Pro724Arg)
c.6191C>G (p.Pro2064Arg)
n.336-70553C>G
c.6179C>G (p.Pro2060Arg)
c.5834C>G (p.Pro1945Arg)
c.2180C>G (p.Pro727Arg)
c.6074C>G (p.Pro2025Arg)
c.6065C>G (p.Pro2022Arg)
c.6080C>G (p.Pro2027Arg)
c.377C>G (p.Pro126Arg)
Xg.32287616G>TCA412666090DMDc.1049C>A (p.Pro350His)
c.6203C>A (p.Pro2068His)
c.2171C>A (p.Pro724His)
c.6191C>A (p.Pro2064His)
n.336-70553C>A
c.6179C>A (p.Pro2060His)
c.5834C>A (p.Pro1945His)
c.2180C>A (p.Pro727His)
c.6074C>A (p.Pro2025His)
c.6065C>A (p.Pro2022His)
c.6080C>A (p.Pro2027His)
c.377C>A (p.Pro126His)
Xg.32287617delCA1139667361DMDc.1049del (p.Pro350LeufsTer5)
c.6203del (p.Pro2068LeufsTer5)
c.2171del (p.Pro724LeufsTer5)
c.6191del (p.Pro2064LeufsTer5)
n.336-70553del
c.6179del (p.Pro2060LeufsTer5)
c.5834del (p.Pro1945LeufsTer5)
c.2180del (p.Pro727LeufsTer5)
c.6074del (p.Pro2025LeufsTer5)
c.6065del (p.Pro2022LeufsTer5)
c.6080del (p.Pro2027LeufsTer5)
c.377del (p.Pro126LeufsTer5)
 ClinVar dbSNP
Xg.32287616_32287618delinsTGGGCA2695232715DMDc.1047_1049delinsCCCA (p.Val351CysfsTer14)
c.6201_6203delinsCCCA (p.Val2069CysfsTer14)
c.2169_2171delinsCCCA (p.Val725CysfsTer14)
c.6189_6191delinsCCCA (p.Val2065CysfsTer14)
n.336-70555_336-70553delinsCCCA
c.6177_6179delinsCCCA (p.Val2061CysfsTer14)
c.5832_5834delinsCCCA (p.Val1946CysfsTer14)
c.2178_2180delinsCCCA (p.Val728CysfsTer14)
c.6072_6074delinsCCCA (p.Val2026CysfsTer14)
c.6063_6065delinsCCCA (p.Val2023CysfsTer14)
c.6078_6080delinsCCCA (p.Val2028CysfsTer14)
c.375_377delinsCCCA (p.Val127CysfsTer14)
Xg.32287617G>ACA10378514DMDc.1048C>T (p.Pro350Ser)
c.6202C>T (p.Pro2068Ser)
c.2170C>T (p.Pro724Ser)
c.6190C>T (p.Pro2064Ser)
n.336-70554C>T
c.6178C>T (p.Pro2060Ser)
c.5833C>T (p.Pro1945Ser)
c.2179C>T (p.Pro727Ser)
c.6073C>T (p.Pro2025Ser)
c.6064C>T (p.Pro2022Ser)
c.6079C>T (p.Pro2027Ser)
c.376C>T (p.Pro126Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287617G>CCA412666094DMDc.1048C>G (p.Pro350Ala)
c.6202C>G (p.Pro2068Ala)
c.2170C>G (p.Pro724Ala)
c.6190C>G (p.Pro2064Ala)
n.336-70554C>G
c.6178C>G (p.Pro2060Ala)
c.5833C>G (p.Pro1945Ala)
c.2179C>G (p.Pro727Ala)
c.6073C>G (p.Pro2025Ala)
c.6064C>G (p.Pro2022Ala)
c.6079C>G (p.Pro2027Ala)
c.376C>G (p.Pro126Ala)
Xg.32287617G=CA2422736432DMDc.1048C= (p.Pro350=)
c.6202C= (p.Pro2068=)
c.2170C= (p.Pro724=)
c.6190C= (p.Pro2064=)
n.336-70554C=
c.6178C= (p.Pro2060=)
c.5833C= (p.Pro1945=)
c.2179C= (p.Pro727=)
c.6073C= (p.Pro2025=)
c.6064C= (p.Pro2022=)
c.6079C= (p.Pro2027=)
c.376C= (p.Pro126=)
Xg.32287617G>TCA412666097DMDc.1048C>A (p.Pro350Thr)
c.6202C>A (p.Pro2068Thr)
c.2170C>A (p.Pro724Thr)
c.6190C>A (p.Pro2064Thr)
n.336-70554C>A
c.6178C>A (p.Pro2060Thr)
c.5833C>A (p.Pro1945Thr)
c.2179C>A (p.Pro727Thr)
c.6073C>A (p.Pro2025Thr)
c.6064C>A (p.Pro2022Thr)
c.6079C>A (p.Pro2027Thr)
c.376C>A (p.Pro126Thr)
 ClinVar dbSNP
Xg.32287618C>ACA515860736DMDc.1047G>T (p.Thr349=)
c.6201G>T (p.Thr2067=)
c.2169G>T (p.Thr723=)
c.6189G>T (p.Thr2063=)
n.336-70555G>T
c.6177G>T (p.Thr2059=)
c.5832G>T (p.Thr1944=)
c.2178G>T (p.Thr726=)
c.6072G>T (p.Thr2024=)
c.6063G>T (p.Thr2021=)
c.6078G>T (p.Thr2026=)
c.375G>T (p.Thr125=)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287618C=CA2422736433DMDc.1047G= (p.Thr349=)
c.6201G= (p.Thr2067=)
c.2169G= (p.Thr723=)
c.6189G= (p.Thr2063=)
n.336-70555G=
c.6177G= (p.Thr2059=)
c.5832G= (p.Thr1944=)
c.2178G= (p.Thr726=)
c.6072G= (p.Thr2024=)
c.6063G= (p.Thr2021=)
c.6078G= (p.Thr2026=)
c.375G= (p.Thr125=)
Xg.32287618C>GCA515860737DMDc.1047G>C (p.Thr349=)
c.6201G>C (p.Thr2067=)
c.2169G>C (p.Thr723=)
c.6189G>C (p.Thr2063=)
n.336-70555G>C
c.6177G>C (p.Thr2059=)
c.5832G>C (p.Thr1944=)
c.2178G>C (p.Thr726=)
c.6072G>C (p.Thr2024=)
c.6063G>C (p.Thr2021=)
c.6078G>C (p.Thr2026=)
c.375G>C (p.Thr125=)
Xg.32287618C>TCA328529827DMDc.1047G>A (p.Thr349=)
c.6201G>A (p.Thr2067=)
c.2169G>A (p.Thr723=)
c.6189G>A (p.Thr2063=)
n.336-70555G>A
c.6177G>A (p.Thr2059=)
c.5832G>A (p.Thr1944=)
c.2178G>A (p.Thr726=)
c.6072G>A (p.Thr2024=)
c.6063G>A (p.Thr2021=)
c.6078G>A (p.Thr2026=)
c.375G>A (p.Thr125=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287619delCA2580100624DMDc.1046del (p.Thr349SerfsTer6)
c.6200del (p.Thr2067SerfsTer6)
c.2168del (p.Thr723SerfsTer6)
c.6188del (p.Thr2063SerfsTer6)
n.336-70556del
c.6176del (p.Thr2059SerfsTer6)
c.5831del (p.Thr1944SerfsTer6)
c.2177del (p.Thr726SerfsTer6)
c.6071del (p.Thr2024SerfsTer6)
c.6062del (p.Thr2021SerfsTer6)
c.6077del (p.Thr2026SerfsTer6)
c.374del (p.Thr125SerfsTer6)
 ClinVar dbSNP
Xg.32287619G>ACA412666100DMDc.1046C>T (p.Thr349Met)
c.6200C>T (p.Thr2067Met)
c.2168C>T (p.Thr723Met)
c.6188C>T (p.Thr2063Met)
n.336-70556C>T
c.6176C>T (p.Thr2059Met)
c.5831C>T (p.Thr1944Met)
c.2177C>T (p.Thr726Met)
c.6071C>T (p.Thr2024Met)
c.6062C>T (p.Thr2021Met)
c.6077C>T (p.Thr2026Met)
c.374C>T (p.Thr125Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32287619G>CCA412666103DMDc.1046C>G (p.Thr349Arg)
c.6200C>G (p.Thr2067Arg)
c.2168C>G (p.Thr723Arg)
c.6188C>G (p.Thr2063Arg)
n.336-70556C>G
c.6176C>G (p.Thr2059Arg)
c.5831C>G (p.Thr1944Arg)
c.2177C>G (p.Thr726Arg)
c.6071C>G (p.Thr2024Arg)
c.6062C>G (p.Thr2021Arg)
c.6077C>G (p.Thr2026Arg)
c.374C>G (p.Thr125Arg)
Xg.32287619G=CA2422736434DMDc.1046C= (p.Thr349=)
c.6200C= (p.Thr2067=)
c.2168C= (p.Thr723=)
c.6188C= (p.Thr2063=)
n.336-70556C=
c.6176C= (p.Thr2059=)
c.5831C= (p.Thr1944=)
c.2177C= (p.Thr726=)
c.6071C= (p.Thr2024=)
c.6062C= (p.Thr2021=)
c.6077C= (p.Thr2026=)
c.374C= (p.Thr125=)
Xg.32287619G>TCA412666106DMDc.1046C>A (p.Thr349Lys)
c.6200C>A (p.Thr2067Lys)
c.2168C>A (p.Thr723Lys)
c.6188C>A (p.Thr2063Lys)
n.336-70556C>A
c.6176C>A (p.Thr2059Lys)
c.5831C>A (p.Thr1944Lys)
c.2177C>A (p.Thr726Lys)
c.6071C>A (p.Thr2024Lys)
c.6062C>A (p.Thr2021Lys)
c.6077C>A (p.Thr2026Lys)
c.374C>A (p.Thr125Lys)
Xg.32287620T>ACA412666116DMDc.1045A>T (p.Thr349Ser)
c.6199A>T (p.Thr2067Ser)
c.2167A>T (p.Thr723Ser)
c.6187A>T (p.Thr2063Ser)
n.336-70557A>T
c.6175A>T (p.Thr2059Ser)
c.5830A>T (p.Thr1944Ser)
c.2176A>T (p.Thr726Ser)
c.6070A>T (p.Thr2024Ser)
c.6061A>T (p.Thr2021Ser)
c.6076A>T (p.Thr2026Ser)
c.373A>T (p.Thr125Ser)
Xg.32287620T>CCA412666113DMDc.1045A>G (p.Thr349Ala)
c.6199A>G (p.Thr2067Ala)
c.2167A>G (p.Thr723Ala)
c.6187A>G (p.Thr2063Ala)
n.336-70557A>G
c.6175A>G (p.Thr2059Ala)
c.5830A>G (p.Thr1944Ala)
c.2176A>G (p.Thr726Ala)
c.6070A>G (p.Thr2024Ala)
c.6061A>G (p.Thr2021Ala)
c.6076A>G (p.Thr2026Ala)
c.373A>G (p.Thr125Ala)
 COSMIC COSMIC COSMIC COSMIC
Xg.32287620T>GCA412666110DMDc.1045A>C (p.Thr349Pro)
c.6199A>C (p.Thr2067Pro)
c.2167A>C (p.Thr723Pro)
c.6187A>C (p.Thr2063Pro)
n.336-70557A>C
c.6175A>C (p.Thr2059Pro)
c.5830A>C (p.Thr1944Pro)
c.2176A>C (p.Thr726Pro)
c.6070A>C (p.Thr2024Pro)
c.6061A>C (p.Thr2021Pro)
c.6076A>C (p.Thr2026Pro)
c.373A>C (p.Thr125Pro)
Xg.32287621T>ACA515860744DMDc.1044A>T (p.Ala348=)
c.6198A>T (p.Ala2066=)
c.2166A>T (p.Ala722=)
c.6186A>T (p.Ala2062=)
n.336-70558A>T
c.6174A>T (p.Ala2058=)
c.5829A>T (p.Ala1943=)
c.2175A>T (p.Ala725=)
c.6069A>T (p.Ala2023=)
c.6060A>T (p.Ala2020=)
c.6075A>T (p.Ala2025=)
c.372A>T (p.Ala124=)
Xg.32287621T>CCA515860746DMDc.1044A>G (p.Ala348=)
c.6198A>G (p.Ala2066=)
c.2166A>G (p.Ala722=)
c.6186A>G (p.Ala2062=)
n.336-70558A>G
c.6174A>G (p.Ala2058=)
c.5829A>G (p.Ala1943=)
c.2175A>G (p.Ala725=)
c.6069A>G (p.Ala2023=)
c.6060A>G (p.Ala2020=)
c.6075A>G (p.Ala2025=)
c.372A>G (p.Ala124=)
Xg.32287621T>GCA515860748DMDc.1044A>C (p.Ala348=)
c.6198A>C (p.Ala2066=)
c.2166A>C (p.Ala722=)
c.6186A>C (p.Ala2062=)
n.336-70558A>C
c.6174A>C (p.Ala2058=)
c.5829A>C (p.Ala1943=)
c.2175A>C (p.Ala725=)
c.6069A>C (p.Ala2023=)
c.6060A>C (p.Ala2020=)
c.6075A>C (p.Ala2025=)
c.372A>C (p.Ala124=)
Xg.32287622G>ACA412666119DMDc.1043C>T (p.Ala348Val)
c.6197C>T (p.Ala2066Val)
c.2165C>T (p.Ala722Val)
c.6185C>T (p.Ala2062Val)
n.336-70559C>T
c.6173C>T (p.Ala2058Val)
c.5828C>T (p.Ala1943Val)
c.2174C>T (p.Ala725Val)
c.6068C>T (p.Ala2023Val)
c.6059C>T (p.Ala2020Val)
c.6074C>T (p.Ala2025Val)
c.371C>T (p.Ala124Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287622G>CCA412666121DMDc.1043C>G (p.Ala348Gly)
c.6197C>G (p.Ala2066Gly)
c.2165C>G (p.Ala722Gly)
c.6185C>G (p.Ala2062Gly)
n.336-70559C>G
c.6173C>G (p.Ala2058Gly)
c.5828C>G (p.Ala1943Gly)
c.2174C>G (p.Ala725Gly)
c.6068C>G (p.Ala2023Gly)
c.6059C>G (p.Ala2020Gly)
c.6074C>G (p.Ala2025Gly)
c.371C>G (p.Ala124Gly)
Xg.32287622G=CA2422736435DMDc.1043C= (p.Ala348=)
c.6197C= (p.Ala2066=)
c.2165C= (p.Ala722=)
c.6185C= (p.Ala2062=)
n.336-70559C=
c.6173C= (p.Ala2058=)
c.5828C= (p.Ala1943=)
c.2174C= (p.Ala725=)
c.6068C= (p.Ala2023=)
c.6059C= (p.Ala2020=)
c.6074C= (p.Ala2025=)
c.371C= (p.Ala124=)
Xg.32287622G>TCA412666122DMDc.1043C>A (p.Ala348Glu)
c.6197C>A (p.Ala2066Glu)
c.2165C>A (p.Ala722Glu)
c.6185C>A (p.Ala2062Glu)
n.336-70559C>A
c.6173C>A (p.Ala2058Glu)
c.5828C>A (p.Ala1943Glu)
c.2174C>A (p.Ala725Glu)
c.6068C>A (p.Ala2023Glu)
c.6059C>A (p.Ala2020Glu)
c.6074C>A (p.Ala2025Glu)
c.371C>A (p.Ala124Glu)
Xg.32287623C>ACA412666129DMDc.1042G>T (p.Ala348Ser)
c.6196G>T (p.Ala2066Ser)
c.2164G>T (p.Ala722Ser)
c.6184G>T (p.Ala2062Ser)
n.336-70560G>T
c.6172G>T (p.Ala2058Ser)
c.5827G>T (p.Ala1943Ser)
c.2173G>T (p.Ala725Ser)
c.6067G>T (p.Ala2023Ser)
c.6058G>T (p.Ala2020Ser)
c.6073G>T (p.Ala2025Ser)
c.370G>T (p.Ala124Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32287623C=CA2422736436DMDc.1042G= (p.Ala348=)
c.6196G= (p.Ala2066=)
c.2164G= (p.Ala722=)
c.6184G= (p.Ala2062=)
n.336-70560G=
c.6172G= (p.Ala2058=)
c.5827G= (p.Ala1943=)
c.2173G= (p.Ala725=)
c.6067G= (p.Ala2023=)
c.6058G= (p.Ala2020=)
c.6073G= (p.Ala2025=)
c.370G= (p.Ala124=)
Xg.32287623C>GCA412666133DMDc.1042G>C (p.Ala348Pro)
c.6196G>C (p.Ala2066Pro)
c.2164G>C (p.Ala722Pro)
c.6184G>C (p.Ala2062Pro)
n.336-70560G>C
c.6172G>C (p.Ala2058Pro)
c.5827G>C (p.Ala1943Pro)
c.2173G>C (p.Ala725Pro)
c.6067G>C (p.Ala2023Pro)
c.6058G>C (p.Ala2020Pro)
c.6073G>C (p.Ala2025Pro)
c.370G>C (p.Ala124Pro)
Xg.32287623C>TCA412666137DMDc.1042G>A (p.Ala348Thr)
c.6196G>A (p.Ala2066Thr)
c.2164G>A (p.Ala722Thr)
c.6184G>A (p.Ala2062Thr)
n.336-70560G>A
c.6172G>A (p.Ala2058Thr)
c.5827G>A (p.Ala1943Thr)
c.2173G>A (p.Ala725Thr)
c.6067G>A (p.Ala2023Thr)
c.6058G>A (p.Ala2020Thr)
c.6073G>A (p.Ala2025Thr)
c.370G>A (p.Ala124Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32287624A=CA2422736437DMDc.1041T= (p.Ser347=)
c.6195T= (p.Ser2065=)
c.2163T= (p.Ser721=)
c.6183T= (p.Ser2061=)
n.336-70561T=
c.6171T= (p.Ser2057=)
c.5826T= (p.Ser1942=)
c.2172T= (p.Ser724=)
c.6066T= (p.Ser2022=)
c.6057T= (p.Ser2019=)
c.6072T= (p.Ser2024=)
c.369T= (p.Ser123=)
Xg.32287624A>CCA412666141DMDc.1041T>G (p.Ser347Arg)
c.6195T>G (p.Ser2065Arg)
c.2163T>G (p.Ser721Arg)
c.6183T>G (p.Ser2061Arg)
n.336-70561T>G
c.6171T>G (p.Ser2057Arg)
c.5826T>G (p.Ser1942Arg)
c.2172T>G (p.Ser724Arg)
c.6066T>G (p.Ser2022Arg)
c.6057T>G (p.Ser2019Arg)
c.6072T>G (p.Ser2024Arg)
c.369T>G (p.Ser123Arg)
Xg.32287624A>GCA222450DMDc.1041T>C (p.Ser347=)
c.6195T>C (p.Ser2065=)
c.2163T>C (p.Ser721=)
c.6183T>C (p.Ser2061=)
n.336-70561T>C
c.6171T>C (p.Ser2057=)
c.5826T>C (p.Ser1942=)
c.2172T>C (p.Ser724=)
c.6066T>C (p.Ser2022=)
c.6057T>C (p.Ser2019=)
c.6072T>C (p.Ser2024=)
c.369T>C (p.Ser123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32287624A>TCA412666143DMDc.1041T>A (p.Ser347Arg)
c.6195T>A (p.Ser2065Arg)
c.2163T>A (p.Ser721Arg)
c.6183T>A (p.Ser2061Arg)
n.336-70561T>A
c.6171T>A (p.Ser2057Arg)
c.5826T>A (p.Ser1942Arg)
c.2172T>A (p.Ser724Arg)
c.6066T>A (p.Ser2022Arg)
c.6057T>A (p.Ser2019Arg)
c.6072T>A (p.Ser2024Arg)
c.369T>A (p.Ser123Arg)
Xg.32287625C>ACA10378515DMDc.1040G>T (p.Ser347Ile)
c.6194G>T (p.Ser2065Ile)
c.2162G>T (p.Ser721Ile)
c.6182G>T (p.Ser2061Ile)
n.336-70562G>T
c.6170G>T (p.Ser2057Ile)
c.5825G>T (p.Ser1942Ile)
c.2171G>T (p.Ser724Ile)
c.6065G>T (p.Ser2022Ile)
c.6056G>T (p.Ser2019Ile)
c.6071G>T (p.Ser2024Ile)
c.368G>T (p.Ser123Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32287625C=CA2422736438DMDc.1040G= (p.Ser347=)
c.6194G= (p.Ser2065=)
c.2162G= (p.Ser721=)
c.6182G= (p.Ser2061=)
n.336-70562G=
c.6170G= (p.Ser2057=)
c.5825G= (p.Ser1942=)
c.2171G= (p.Ser724=)
c.6065G= (p.Ser2022=)
c.6056G= (p.Ser2019=)
c.6071G= (p.Ser2024=)
c.368G= (p.Ser123=)
Xg.32287625C>GCA412666149DMDc.1040G>C (p.Ser347Thr)
c.6194G>C (p.Ser2065Thr)
c.2162G>C (p.Ser721Thr)
c.6182G>C (p.Ser2061Thr)
n.336-70562G>C
c.6170G>C (p.Ser2057Thr)
c.5825G>C (p.Ser1942Thr)
c.2171G>C (p.Ser724Thr)
c.6065G>C (p.Ser2022Thr)
c.6056G>C (p.Ser2019Thr)
c.6071G>C (p.Ser2024Thr)
c.368G>C (p.Ser123Thr)
Xg.32287625C>TCA412666152DMDc.1040G>A (p.Ser347Asn)
c.6194G>A (p.Ser2065Asn)
c.2162G>A (p.Ser721Asn)
c.6182G>A (p.Ser2061Asn)
n.336-70562G>A
c.6170G>A (p.Ser2057Asn)
c.5825G>A (p.Ser1942Asn)
c.2171G>A (p.Ser724Asn)
c.6065G>A (p.Ser2022Asn)
c.6056G>A (p.Ser2019Asn)
c.6071G>A (p.Ser2024Asn)
c.368G>A (p.Ser123Asn)

Number of alleles fetched