Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32464590C>ACA412664688DMDn.3479G>T
c.3272G>T (p.Cys1091Phe)
c.3260G>T (p.Cys1087Phe)
c.94-99391G>T (n.94-99391G>T)
c.94-99880G>T (n.94-99880G>T)
n.336-247527G>T
c.3248G>T (p.Cys1083Phe)
c.2903G>T (p.Cys968Phe)
c.3143G>T (p.Cys1048Phe)
 dbSNP gnomAD v4
Xg.32464590C=CA2422815793DMDn.3479G=
c.3272G= (p.Cys1091=)
c.3260G= (p.Cys1087=)
c.94-99391G= (n.94-99391G=)
c.94-99880G= (n.94-99880G=)
n.336-247527G=
c.3248G= (p.Cys1083=)
c.2903G= (p.Cys968=)
c.3143G= (p.Cys1048=)
Xg.32464590C>GCA412664690DMDn.3479G>C
c.3272G>C (p.Cys1091Ser)
c.3260G>C (p.Cys1087Ser)
c.94-99391G>C (n.94-99391G>C)
c.94-99880G>C (n.94-99880G>C)
n.336-247527G>C
c.3248G>C (p.Cys1083Ser)
c.2903G>C (p.Cys968Ser)
c.3143G>C (p.Cys1048Ser)
Xg.32464590C>TCA412664692DMDn.3479G>A
c.3272G>A (p.Cys1091Tyr)
c.3260G>A (p.Cys1087Tyr)
c.94-99391G>A (n.94-99391G>A)
c.94-99880G>A (n.94-99880G>A)
n.336-247527G>A
c.3248G>A (p.Cys1083Tyr)
c.2903G>A (p.Cys968Tyr)
c.3143G>A (p.Cys1048Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32464591A=CA2422815794DMDn.3478T=
c.3271T= (p.Cys1091=)
c.3259T= (p.Cys1087=)
c.94-99392T= (n.94-99392T=)
c.94-99881T= (n.94-99881T=)
n.336-247528T=
c.3247T= (p.Cys1083=)
c.2902T= (p.Cys968=)
c.3142T= (p.Cys1048=)
Xg.32464591A>CCA412664694DMDn.3478T>G
c.3271T>G (p.Cys1091Gly)
c.3259T>G (p.Cys1087Gly)
c.94-99392T>G (n.94-99392T>G)
c.94-99881T>G (n.94-99881T>G)
n.336-247528T>G
c.3247T>G (p.Cys1083Gly)
c.2902T>G (p.Cys968Gly)
c.3142T>G (p.Cys1048Gly)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
Xg.32464591A>GCA412664695DMDn.3478T>C
c.3271T>C (p.Cys1091Arg)
c.3259T>C (p.Cys1087Arg)
c.94-99392T>C (n.94-99392T>C)
c.94-99881T>C (n.94-99881T>C)
n.336-247528T>C
c.3247T>C (p.Cys1083Arg)
c.2902T>C (p.Cys968Arg)
c.3142T>C (p.Cys1048Arg)
 gnomAD v4
Xg.32464591A>TCA412664697DMDn.3478T>A
c.3271T>A (p.Cys1091Ser)
c.3259T>A (p.Cys1087Ser)
c.94-99392T>A (n.94-99392T>A)
c.94-99881T>A (n.94-99881T>A)
n.336-247528T>A
c.3247T>A (p.Cys1083Ser)
c.2902T>A (p.Cys968Ser)
c.3142T>A (p.Cys1048Ser)
 gnomAD v4
Xg.32464592C>ACA412664699DMDn.3477G>T
c.3270G>T (p.Gln1090His)
c.3258G>T (p.Gln1086His)
c.94-99393G>T (n.94-99393G>T)
c.94-99882G>T (n.94-99882G>T)
n.336-247529G>T
c.3246G>T (p.Gln1082His)
c.2901G>T (p.Gln967His)
c.3141G>T (p.Gln1047His)
 ClinVar dbSNP gnomAD v4
Xg.32464592C=CA2422815795DMDn.3477G=
c.3270G= (p.Gln1090=)
c.3258G= (p.Gln1086=)
c.94-99393G= (n.94-99393G=)
c.94-99882G= (n.94-99882G=)
n.336-247529G=
c.3246G= (p.Gln1082=)
c.2901G= (p.Gln967=)
c.3141G= (p.Gln1047=)
Xg.32464592C>GCA412664701DMDn.3477G>C
c.3270G>C (p.Gln1090His)
c.3258G>C (p.Gln1086His)
c.94-99393G>C (n.94-99393G>C)
c.94-99882G>C (n.94-99882G>C)
n.336-247529G>C
c.3246G>C (p.Gln1082His)
c.2901G>C (p.Gln967His)
c.3141G>C (p.Gln1047His)
 dbSNP
Xg.32464592C>TCA10379322DMDn.3477G>A
c.3270G>A (p.Gln1090=)
c.3258G>A (p.Gln1086=)
c.94-99393G>A (n.94-99393G>A)
c.94-99882G>A (n.94-99882G>A)
n.336-247529G>A
c.3246G>A (p.Gln1082=)
c.2901G>A (p.Gln967=)
c.3141G>A (p.Gln1047=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464593T>ACA242443DMDn.3476A>T
c.3269A>T (p.Gln1090Leu)
c.3257A>T (p.Gln1086Leu)
c.94-99394A>T (n.94-99394A>T)
c.94-99883A>T (n.94-99883A>T)
n.336-247530A>T
c.3245A>T (p.Gln1082Leu)
c.2900A>T (p.Gln967Leu)
c.3140A>T (p.Gln1047Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.32464593T>CCA412664704DMDn.3476A>G
c.3269A>G (p.Gln1090Arg)
c.3257A>G (p.Gln1086Arg)
c.94-99394A>G (n.94-99394A>G)
c.94-99883A>G (n.94-99883A>G)
n.336-247530A>G
c.3245A>G (p.Gln1082Arg)
c.2900A>G (p.Gln967Arg)
c.3140A>G (p.Gln1047Arg)
Xg.32464593T>GCA412664706DMDn.3476A>C
c.3269A>C (p.Gln1090Pro)
c.3257A>C (p.Gln1086Pro)
c.94-99394A>C (n.94-99394A>C)
c.94-99883A>C (n.94-99883A>C)
n.336-247530A>C
c.3245A>C (p.Gln1082Pro)
c.2900A>C (p.Gln967Pro)
c.3140A>C (p.Gln1047Pro)
Xg.32464593T=CA2422815796DMDn.3476A=
c.3269A= (p.Gln1090=)
c.3257A= (p.Gln1086=)
c.94-99394A= (n.94-99394A=)
c.94-99883A= (n.94-99883A=)
n.336-247530A=
c.3245A= (p.Gln1082=)
c.2900A= (p.Gln967=)
c.3140A= (p.Gln1047=)
Xg.32464594G>ACA412664712DMDn.3475C>T
c.3268C>T (p.Gln1090Ter)
c.3256C>T (p.Gln1086Ter)
c.94-99395C>T (n.94-99395C>T)
c.94-99884C>T (n.94-99884C>T)
n.336-247531C>T
c.3244C>T (p.Gln1082Ter)
c.2899C>T (p.Gln967Ter)
c.3139C>T (p.Gln1047Ter)
 ClinVar dbSNP
Xg.32464594G>CCA412664708DMDn.3475C>G
c.3268C>G (p.Gln1090Glu)
c.3256C>G (p.Gln1086Glu)
c.94-99395C>G (n.94-99395C>G)
c.94-99884C>G (n.94-99884C>G)
n.336-247531C>G
c.3244C>G (p.Gln1082Glu)
c.2899C>G (p.Gln967Glu)
c.3139C>G (p.Gln1047Glu)
Xg.32464594G=CA2422815797DMDn.3475C=
c.3268C= (p.Gln1090=)
c.3256C= (p.Gln1086=)
c.94-99395C= (n.94-99395C=)
c.94-99884C= (n.94-99884C=)
n.336-247531C=
c.3244C= (p.Gln1082=)
c.2899C= (p.Gln967=)
c.3139C= (p.Gln1047=)
Xg.32464594G>TCA412664711DMDn.3475C>A
c.3268C>A (p.Gln1090Lys)
c.3256C>A (p.Gln1086Lys)
c.94-99395C>A (n.94-99395C>A)
c.94-99884C>A (n.94-99884C>A)
n.336-247531C>A
c.3244C>A (p.Gln1082Lys)
c.2899C>A (p.Gln967Lys)
c.3139C>A (p.Gln1047Lys)
 gnomAD v4
Xg.32464595T>ACA412664714DMDn.3474A>T
c.3267A>T (p.Lys1089Asn)
c.3255A>T (p.Lys1085Asn)
c.94-99396A>T (n.94-99396A>T)
c.94-99885A>T (n.94-99885A>T)
n.336-247532A>T
c.3243A>T (p.Lys1081Asn)
c.2898A>T (p.Lys966Asn)
c.3138A>T (p.Lys1046Asn)
Xg.32464595T>CCA515715499DMDn.3474A>G
c.3267A>G (p.Lys1089=)
c.3255A>G (p.Lys1085=)
c.94-99396A>G (n.94-99396A>G)
c.94-99885A>G (n.94-99885A>G)
n.336-247532A>G
c.3243A>G (p.Lys1081=)
c.2898A>G (p.Lys966=)
c.3138A>G (p.Lys1046=)
 ClinVar
Xg.32464595T>GCA412664716DMDn.3474A>C
c.3267A>C (p.Lys1089Asn)
c.3255A>C (p.Lys1085Asn)
c.94-99396A>C (n.94-99396A>C)
c.94-99885A>C (n.94-99885A>C)
n.336-247532A>C
c.3243A>C (p.Lys1081Asn)
c.2898A>C (p.Lys966Asn)
c.3138A>C (p.Lys1046Asn)
Xg.32464595_32464596insGCA2695231980DMDn.3473_3474insC
c.3266_3267insC (p.Lys1089AsnfsTer9)
c.3254_3255insC (p.Lys1085AsnfsTer9)
c.94-99397_94-99396insC (n.94-99397_94-99396insC)
c.94-99886_94-99885insC (n.94-99886_94-99885insC)
n.336-247533_336-247532insC
c.3242_3243insC (p.Lys1081AsnfsTer9)
c.2897_2898insC (p.Lys966AsnfsTer9)
c.3137_3138insC (p.Lys1046AsnfsTer9)
Xg.32464596T>ACA412664718DMDn.3473A>T
c.3266A>T (p.Lys1089Ile)
c.3254A>T (p.Lys1085Ile)
c.94-99397A>T (n.94-99397A>T)
c.94-99886A>T (n.94-99886A>T)
n.336-247533A>T
c.3242A>T (p.Lys1081Ile)
c.2897A>T (p.Lys966Ile)
c.3137A>T (p.Lys1046Ile)
Xg.32464596T>CCA412664720DMDn.3473A>G
c.3266A>G (p.Lys1089Arg)
c.3254A>G (p.Lys1085Arg)
c.94-99397A>G (n.94-99397A>G)
c.94-99886A>G (n.94-99886A>G)
n.336-247533A>G
c.3242A>G (p.Lys1081Arg)
c.2897A>G (p.Lys966Arg)
c.3137A>G (p.Lys1046Arg)
 ClinVar dbSNP
Xg.32464596T>GCA412664722DMDn.3473A>C
c.3266A>C (p.Lys1089Thr)
c.3254A>C (p.Lys1085Thr)
c.94-99397A>C (n.94-99397A>C)
c.94-99886A>C (n.94-99886A>C)
n.336-247533A>C
c.3242A>C (p.Lys1081Thr)
c.2897A>C (p.Lys966Thr)
c.3137A>C (p.Lys1046Thr)
Xg.32464597T>ACA412664725DMDn.3472A>T
c.3265A>T (p.Lys1089Ter)
c.3253A>T (p.Lys1085Ter)
c.94-99398A>T (n.94-99398A>T)
c.94-99887A>T (n.94-99887A>T)
n.336-247534A>T
c.3241A>T (p.Lys1081Ter)
c.2896A>T (p.Lys966Ter)
c.3136A>T (p.Lys1046Ter)
Xg.32464597T>CCA412664726DMDn.3472A>G
c.3265A>G (p.Lys1089Glu)
c.3253A>G (p.Lys1085Glu)
c.94-99398A>G (n.94-99398A>G)
c.94-99887A>G (n.94-99887A>G)
n.336-247534A>G
c.3241A>G (p.Lys1081Glu)
c.2896A>G (p.Lys966Glu)
c.3136A>G (p.Lys1046Glu)
Xg.32464597T>GCA412664728DMDn.3472A>C
c.3265A>C (p.Lys1089Gln)
c.3253A>C (p.Lys1085Gln)
c.94-99398A>C (n.94-99398A>C)
c.94-99887A>C (n.94-99887A>C)
n.336-247534A>C
c.3241A>C (p.Lys1081Gln)
c.2896A>C (p.Lys966Gln)
c.3136A>C (p.Lys1046Gln)
Xg.32464598C>ACA515715500DMDn.3471G>T
c.3264G>T (p.Leu1088=)
c.3252G>T (p.Leu1084=)
c.94-99399G>T (n.94-99399G>T)
c.94-99888G>T (n.94-99888G>T)
n.336-247535G>T
c.3240G>T (p.Leu1080=)
c.2895G>T (p.Leu965=)
c.3135G>T (p.Leu1045=)
Xg.32464598C>GCA515715501DMDn.3471G>C
c.3264G>C (p.Leu1088=)
c.3252G>C (p.Leu1084=)
c.94-99399G>C (n.94-99399G>C)
c.94-99888G>C (n.94-99888G>C)
n.336-247535G>C
c.3240G>C (p.Leu1080=)
c.2895G>C (p.Leu965=)
c.3135G>C (p.Leu1045=)
Xg.32464598C>TCA515715502DMDn.3471G>A
c.3264G>A (p.Leu1088=)
c.3252G>A (p.Leu1084=)
c.94-99399G>A (n.94-99399G>A)
c.94-99888G>A (n.94-99888G>A)
n.336-247535G>A
c.3240G>A (p.Leu1080=)
c.2895G>A (p.Leu965=)
c.3135G>A (p.Leu1045=)
Xg.32464599A>CCA412664729DMDn.3470T>G
c.3263T>G (p.Leu1088Arg)
c.3251T>G (p.Leu1084Arg)
c.94-99400T>G (n.94-99400T>G)
c.94-99889T>G (n.94-99889T>G)
n.336-247536T>G
c.3239T>G (p.Leu1080Arg)
c.2894T>G (p.Leu965Arg)
c.3134T>G (p.Leu1045Arg)
Xg.32464599A>GCA412664730DMDn.3470T>C
c.3263T>C (p.Leu1088Pro)
c.3251T>C (p.Leu1084Pro)
c.94-99400T>C (n.94-99400T>C)
c.94-99889T>C (n.94-99889T>C)
n.336-247536T>C
c.3239T>C (p.Leu1080Pro)
c.2894T>C (p.Leu965Pro)
c.3134T>C (p.Leu1045Pro)
Xg.32464599A>TCA412664732DMDn.3470T>A
c.3263T>A (p.Leu1088Gln)
c.3251T>A (p.Leu1084Gln)
c.94-99400T>A (n.94-99400T>A)
c.94-99889T>A (n.94-99889T>A)
n.336-247536T>A
c.3239T>A (p.Leu1080Gln)
c.2894T>A (p.Leu965Gln)
c.3134T>A (p.Leu1045Gln)
Xg.32464600G>ACA515715503DMDn.3469C>T
c.3262C>T (p.Leu1088=)
c.3250C>T (p.Leu1084=)
c.94-99401C>T (n.94-99401C>T)
c.94-99890C>T (n.94-99890C>T)
n.336-247537C>T
c.3238C>T (p.Leu1080=)
c.2893C>T (p.Leu965=)
c.3133C>T (p.Leu1045=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464600G>CCA412664734DMDn.3469C>G
c.3262C>G (p.Leu1088Val)
c.3250C>G (p.Leu1084Val)
c.94-99401C>G (n.94-99401C>G)
c.94-99890C>G (n.94-99890C>G)
n.336-247537C>G
c.3238C>G (p.Leu1080Val)
c.2893C>G (p.Leu965Val)
c.3133C>G (p.Leu1045Val)
Xg.32464600G=CA2422815798DMDn.3469C=
c.3262C= (p.Leu1088=)
c.3250C= (p.Leu1084=)
c.94-99401C= (n.94-99401C=)
c.94-99890C= (n.94-99890C=)
n.336-247537C=
c.3238C= (p.Leu1080=)
c.2893C= (p.Leu965=)
c.3133C= (p.Leu1045=)
Xg.32464600G>TCA412664736DMDn.3469C>A
c.3262C>A (p.Leu1088Met)
c.3250C>A (p.Leu1084Met)
c.94-99401C>A (n.94-99401C>A)
c.94-99890C>A (n.94-99890C>A)
n.336-247537C>A
c.3238C>A (p.Leu1080Met)
c.2893C>A (p.Leu965Met)
c.3133C>A (p.Leu1045Met)
Xg.32464601C>ACA412664740DMDn.3468G>T
c.3261G>T (p.Gln1087His)
c.3249G>T (p.Gln1083His)
c.94-99402G>T (n.94-99402G>T)
c.94-99891G>T (n.94-99891G>T)
n.336-247538G>T
c.3237G>T (p.Gln1079His)
c.2892G>T (p.Gln964His)
c.3132G>T (p.Gln1044His)
Xg.32464601C>GCA412664738DMDn.3468G>C
c.3261G>C (p.Gln1087His)
c.3249G>C (p.Gln1083His)
c.94-99402G>C (n.94-99402G>C)
c.94-99891G>C (n.94-99891G>C)
n.336-247538G>C
c.3237G>C (p.Gln1079His)
c.2892G>C (p.Gln964His)
c.3132G>C (p.Gln1044His)
Xg.32464601C>TCA515715504DMDn.3468G>A
c.3261G>A (p.Gln1087=)
c.3249G>A (p.Gln1083=)
c.94-99402G>A (n.94-99402G>A)
c.94-99891G>A (n.94-99891G>A)
n.336-247538G>A
c.3237G>A (p.Gln1079=)
c.2892G>A (p.Gln964=)
c.3132G>A (p.Gln1044=)
 ClinVar dbSNP
Xg.32464602delCA2695231981DMDn.3467del
c.3260del (p.Gln1087ArgfsTer2)
c.3248del (p.Gln1083ArgfsTer2)
c.94-99403del (n.94-99403del)
c.94-99892del (n.94-99892del)
n.336-247539del
c.3236del (p.Gln1079ArgfsTer2)
c.2891del (p.Gln964ArgfsTer2)
c.3131del (p.Gln1044ArgfsTer2)
Xg.32464602T>ACA412664742DMDn.3467A>T
c.3260A>T (p.Gln1087Leu)
c.3248A>T (p.Gln1083Leu)
c.94-99403A>T (n.94-99403A>T)
c.94-99892A>T (n.94-99892A>T)
n.336-247539A>T
c.3236A>T (p.Gln1079Leu)
c.2891A>T (p.Gln964Leu)
c.3131A>T (p.Gln1044Leu)
Xg.32464602T>CCA412664746DMDn.3467A>G
c.3260A>G (p.Gln1087Arg)
c.3248A>G (p.Gln1083Arg)
c.94-99403A>G (n.94-99403A>G)
c.94-99892A>G (n.94-99892A>G)
n.336-247539A>G
c.3236A>G (p.Gln1079Arg)
c.2891A>G (p.Gln964Arg)
c.3131A>G (p.Gln1044Arg)
 gnomAD v4
Xg.32464602T>GCA412664744DMDn.3467A>C
c.3260A>C (p.Gln1087Pro)
c.3248A>C (p.Gln1083Pro)
c.94-99403A>C (n.94-99403A>C)
c.94-99892A>C (n.94-99892A>C)
n.336-247539A>C
c.3236A>C (p.Gln1079Pro)
c.2891A>C (p.Gln964Pro)
c.3131A>C (p.Gln1044Pro)
Xg.32464603G>ACA10588771DMDn.3466C>T
c.3259C>T (p.Gln1087Ter)
c.3247C>T (p.Gln1083Ter)
c.94-99404C>T (n.94-99404C>T)
c.94-99893C>T (n.94-99893C>T)
n.336-247540C>T
c.3235C>T (p.Gln1079Ter)
c.2890C>T (p.Gln964Ter)
c.3130C>T (p.Gln1044Ter)
 ClinVar dbSNP
Xg.32464603G>CCA412664750DMDn.3466C>G
c.3259C>G (p.Gln1087Glu)
c.3247C>G (p.Gln1083Glu)
c.94-99404C>G (n.94-99404C>G)
c.94-99893C>G (n.94-99893C>G)
n.336-247540C>G
c.3235C>G (p.Gln1079Glu)
c.2890C>G (p.Gln964Glu)
c.3130C>G (p.Gln1044Glu)
Xg.32464603G=CA2422815799DMDn.3466C=
c.3259C= (p.Gln1087=)
c.3247C= (p.Gln1083=)
c.94-99404C= (n.94-99404C=)
c.94-99893C= (n.94-99893C=)
n.336-247540C=
c.3235C= (p.Gln1079=)
c.2890C= (p.Gln964=)
c.3130C= (p.Gln1044=)
Xg.32464603G>TCA412664751DMDn.3466C>A
c.3259C>A (p.Gln1087Lys)
c.3247C>A (p.Gln1083Lys)
c.94-99404C>A (n.94-99404C>A)
c.94-99893C>A (n.94-99893C>A)
n.336-247540C>A
c.3235C>A (p.Gln1079Lys)
c.2890C>A (p.Gln964Lys)
c.3130C>A (p.Gln1044Lys)
Xg.32464604C>ACA412664754DMDn.3465G>T
c.3258G>T (p.Lys1086Asn)
c.3246G>T (p.Lys1082Asn)
c.94-99405G>T (n.94-99405G>T)
c.94-99894G>T (n.94-99894G>T)
n.336-247541G>T
c.3234G>T (p.Lys1078Asn)
c.2889G>T (p.Lys963Asn)
c.3129G>T (p.Lys1043Asn)
 COSMIC COSMIC COSMIC
Xg.32464604C=CA2422815801DMDn.3465G=
c.3258G= (p.Lys1086=)
c.3246G= (p.Lys1082=)
c.94-99405G= (n.94-99405G=)
c.94-99894G= (n.94-99894G=)
n.336-247541G=
c.3234G= (p.Lys1078=)
c.2889G= (p.Lys963=)
c.3129G= (p.Lys1043=)
Xg.32464604C>GCA412664756DMDn.3465G>C
c.3258G>C (p.Lys1086Asn)
c.3246G>C (p.Lys1082Asn)
c.94-99405G>C (n.94-99405G>C)
c.94-99894G>C (n.94-99894G>C)
n.336-247541G>C
c.3234G>C (p.Lys1078Asn)
c.2889G>C (p.Lys963Asn)
c.3129G>C (p.Lys1043Asn)
Xg.32464604C>TCA515715505DMDn.3465G>A
c.3258G>A (p.Lys1086=)
c.3246G>A (p.Lys1082=)
c.94-99405G>A (n.94-99405G>A)
c.94-99894G>A (n.94-99894G>A)
n.336-247541G>A
c.3234G>A (p.Lys1078=)
c.2889G>A (p.Lys963=)
c.3129G>A (p.Lys1043=)
 dbSNP gnomAD v4
Xg.32464604_32464605delinsCTCA2422815800DMDn.3464_3465delinsAG
c.3257_3258delinsAG (p.Lys1086=)
c.3245_3246delinsAG (p.Lys1082=)
c.94-99406_94-99405delinsAG (n.94-99406_94-99405delinsAG)
c.94-99895_94-99894delinsAG (n.94-99895_94-99894delinsAG)
n.336-247542_336-247541delinsAG
c.3233_3234delinsAG (p.Lys1078=)
c.2888_2889delinsAG (p.Lys963=)
c.3128_3129delinsAG (p.Lys1043=)
Xg.32464605T>ACA412664758DMDn.3464A>T
c.3257A>T (p.Lys1086Met)
c.3245A>T (p.Lys1082Met)
c.94-99406A>T (n.94-99406A>T)
c.94-99895A>T (n.94-99895A>T)
n.336-247542A>T
c.3233A>T (p.Lys1078Met)
c.2888A>T (p.Lys963Met)
c.3128A>T (p.Lys1043Met)
Xg.32464605T>CCA412664760DMDn.3464A>G
c.3257A>G (p.Lys1086Arg)
c.3245A>G (p.Lys1082Arg)
c.94-99406A>G (n.94-99406A>G)
c.94-99895A>G (n.94-99895A>G)
n.336-247542A>G
c.3233A>G (p.Lys1078Arg)
c.2888A>G (p.Lys963Arg)
c.3128A>G (p.Lys1043Arg)
 ClinVar
Xg.32464605T>GCA412664762DMDn.3464A>C
c.3257A>C (p.Lys1086Thr)
c.3245A>C (p.Lys1082Thr)
c.94-99406A>C (n.94-99406A>C)
c.94-99895A>C (n.94-99895A>C)
n.336-247542A>C
c.3233A>C (p.Lys1078Thr)
c.2888A>C (p.Lys963Thr)
c.3128A>C (p.Lys1043Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.32464605T=CA2422815802DMDn.3464A=
c.3257A= (p.Lys1086=)
c.3245A= (p.Lys1082=)
c.94-99406A= (n.94-99406A=)
c.94-99895A= (n.94-99895A=)
n.336-247542A=
c.3233A= (p.Lys1078=)
c.2888A= (p.Lys963=)
c.3128A= (p.Lys1043=)
Xg.32464610dupCA645619760DMDn.3464dup
c.3257dup (p.Gln1087AlafsTer11)
c.3245dup (p.Gln1083AlafsTer11)
c.94-99406dup (n.94-99406dup)
c.94-99895dup (n.94-99895dup)
n.336-247542dup
c.3233dup (p.Gln1079AlafsTer11)
c.2888dup (p.Gln964AlafsTer11)
c.3128dup (p.Gln1044AlafsTer11)
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.32464610delCA915950893DMDn.3464del
c.3257del (p.Lys1086SerfsTer3)
c.3245del (p.Lys1082SerfsTer3)
c.94-99406del (n.94-99406del)
c.94-99895del (n.94-99895del)
n.336-247542del
c.3233del (p.Lys1078SerfsTer3)
c.2888del (p.Lys963SerfsTer3)
c.3128del (p.Lys1043SerfsTer3)
 ClinVar dbSNP
Xg.32464609_32464610delCA2580100713DMDn.3463_3464del
c.3256_3257del (p.Lys1086AlafsTer11)
c.3244_3245del (p.Lys1082AlafsTer11)
c.94-99407_94-99406del (n.94-99407_94-99406del)
c.94-99896_94-99895del (n.94-99896_94-99895del)
n.336-247543_336-247542del
c.3232_3233del (p.Lys1078AlafsTer11)
c.2887_2888del (p.Lys963AlafsTer11)
c.3127_3128del (p.Lys1043AlafsTer11)
 ClinVar
Xg.32464606T>ACA412664764DMDn.3463A>T
c.3256A>T (p.Lys1086Ter)
c.3244A>T (p.Lys1082Ter)
c.94-99407A>T (n.94-99407A>T)
c.94-99896A>T (n.94-99896A>T)
n.336-247543A>T
c.3232A>T (p.Lys1078Ter)
c.2887A>T (p.Lys963Ter)
c.3127A>T (p.Lys1043Ter)
 ClinVar dbSNP
Xg.32464606T>CCA328002387DMDn.3463A>G
c.3256A>G (p.Lys1086Glu)
c.3244A>G (p.Lys1082Glu)
c.94-99407A>G (n.94-99407A>G)
c.94-99896A>G (n.94-99896A>G)
n.336-247543A>G
c.3232A>G (p.Lys1078Glu)
c.2887A>G (p.Lys963Glu)
c.3127A>G (p.Lys1043Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.32464606T>GCA412664767DMDn.3463A>C
c.3256A>C (p.Lys1086Gln)
c.3244A>C (p.Lys1082Gln)
c.94-99407A>C (n.94-99407A>C)
c.94-99896A>C (n.94-99896A>C)
n.336-247543A>C
c.3232A>C (p.Lys1078Gln)
c.2887A>C (p.Lys963Gln)
c.3127A>C (p.Lys1043Gln)
 COSMIC COSMIC COSMIC
Xg.32464606T=CA2422815803DMDn.3463A=
c.3256A= (p.Lys1086=)
c.3244A= (p.Lys1082=)
c.94-99407A= (n.94-99407A=)
c.94-99896A= (n.94-99896A=)
n.336-247543A=
c.3232A= (p.Lys1078=)
c.2887A= (p.Lys963=)
c.3127A= (p.Lys1043=)
Xg.32464607T>ACA412664771DMDn.3462A>T
c.3255A>T (p.Lys1085Asn)
c.3243A>T (p.Lys1081Asn)
c.94-99408A>T (n.94-99408A>T)
c.94-99897A>T (n.94-99897A>T)
n.336-247544A>T
c.3231A>T (p.Lys1077Asn)
c.2886A>T (p.Lys962Asn)
c.3126A>T (p.Lys1042Asn)
Xg.32464607T>CCA515715507DMDn.3462A>G
c.3255A>G (p.Lys1085=)
c.3243A>G (p.Lys1081=)
c.94-99408A>G (n.94-99408A>G)
c.94-99897A>G (n.94-99897A>G)
n.336-247544A>G
c.3231A>G (p.Lys1077=)
c.2886A>G (p.Lys962=)
c.3126A>G (p.Lys1042=)
Xg.32464607T>GCA412664769DMDn.3462A>C
c.3255A>C (p.Lys1085Asn)
c.3243A>C (p.Lys1081Asn)
c.94-99408A>C (n.94-99408A>C)
c.94-99897A>C (n.94-99897A>C)
n.336-247544A>C
c.3231A>C (p.Lys1077Asn)
c.2886A>C (p.Lys962Asn)
c.3126A>C (p.Lys1042Asn)
Xg.32464608T>ACA412664773DMDn.3461A>T
c.3254A>T (p.Lys1085Ile)
c.3242A>T (p.Lys1081Ile)
c.94-99409A>T (n.94-99409A>T)
c.94-99898A>T (n.94-99898A>T)
n.336-247545A>T
c.3230A>T (p.Lys1077Ile)
c.2885A>T (p.Lys962Ile)
c.3125A>T (p.Lys1042Ile)
Xg.32464608T>CCA412664775DMDn.3461A>G
c.3254A>G (p.Lys1085Arg)
c.3242A>G (p.Lys1081Arg)
c.94-99409A>G (n.94-99409A>G)
c.94-99898A>G (n.94-99898A>G)
n.336-247545A>G
c.3230A>G (p.Lys1077Arg)
c.2885A>G (p.Lys962Arg)
c.3125A>G (p.Lys1042Arg)
 ClinVar dbSNP
Xg.32464608T>GCA412664777DMDn.3461A>C
c.3254A>C (p.Lys1085Thr)
c.3242A>C (p.Lys1081Thr)
c.94-99409A>C (n.94-99409A>C)
c.94-99898A>C (n.94-99898A>C)
n.336-247545A>C
c.3230A>C (p.Lys1077Thr)
c.2885A>C (p.Lys962Thr)
c.3125A>C (p.Lys1042Thr)
 ClinVar
Xg.32464609T>ACA412664779DMDn.3460A>T
c.3253A>T (p.Lys1085Ter)
c.3241A>T (p.Lys1081Ter)
c.94-99410A>T (n.94-99410A>T)
c.94-99899A>T (n.94-99899A>T)
n.336-247546A>T
c.3229A>T (p.Lys1077Ter)
c.2884A>T (p.Lys962Ter)
c.3124A>T (p.Lys1042Ter)
 dbSNP
Xg.32464609T>CCA412664781DMDn.3460A>G
c.3253A>G (p.Lys1085Glu)
c.3241A>G (p.Lys1081Glu)
c.94-99410A>G (n.94-99410A>G)
c.94-99899A>G (n.94-99899A>G)
n.336-247546A>G
c.3229A>G (p.Lys1077Glu)
c.2884A>G (p.Lys962Glu)
c.3124A>G (p.Lys1042Glu)
Xg.32464609T>GCA412664783DMDn.3460A>C
c.3253A>C (p.Lys1085Gln)
c.3241A>C (p.Lys1081Gln)
c.94-99410A>C (n.94-99410A>C)
c.94-99899A>C (n.94-99899A>C)
n.336-247546A>C
c.3229A>C (p.Lys1077Gln)
c.2884A>C (p.Lys962Gln)
c.3124A>C (p.Lys1042Gln)
Xg.32464610T>ACA515715508DMDn.3459A>T
c.3252A>T (p.Leu1084=)
c.3240A>T (p.Leu1080=)
c.94-99411A>T (n.94-99411A>T)
c.94-99900A>T (n.94-99900A>T)
n.336-247547A>T
c.3228A>T (p.Leu1076=)
c.2883A>T (p.Leu961=)
c.3123A>T (p.Leu1041=)
Xg.32464610T>CCA515715510DMDn.3459A>G
c.3252A>G (p.Leu1084=)
c.3240A>G (p.Leu1080=)
c.94-99411A>G (n.94-99411A>G)
c.94-99900A>G (n.94-99900A>G)
n.336-247547A>G
c.3228A>G (p.Leu1076=)
c.2883A>G (p.Leu961=)
c.3123A>G (p.Leu1041=)
 ClinVar
Xg.32464610T>GCA515715511DMDn.3459A>C
c.3252A>C (p.Leu1084=)
c.3240A>C (p.Leu1080=)
c.94-99411A>C (n.94-99411A>C)
c.94-99900A>C (n.94-99900A>C)
n.336-247547A>C
c.3228A>C (p.Leu1076=)
c.2883A>C (p.Leu961=)
c.3123A>C (p.Leu1041=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464610T=CA2422815804DMDn.3459A=
c.3252A= (p.Leu1084=)
c.3240A= (p.Leu1080=)
c.94-99411A= (n.94-99411A=)
c.94-99900A= (n.94-99900A=)
n.336-247547A=
c.3228A= (p.Leu1076=)
c.2883A= (p.Leu961=)
c.3123A= (p.Leu1041=)
Xg.32464611delCA2579579880DMDn.3458del
c.3251del (p.Leu1084GlnfsTer5)
c.3239del (p.Leu1080GlnfsTer5)
c.94-99412del (n.94-99412del)
c.94-99901del (n.94-99901del)
n.336-247548del
c.3227del (p.Leu1076GlnfsTer5)
c.2882del (p.Leu961GlnfsTer5)
c.3122del (p.Leu1041GlnfsTer5)
Xg.32464611A>CCA412664784DMDn.3458T>G
c.3251T>G (p.Leu1084Arg)
c.3239T>G (p.Leu1080Arg)
c.94-99412T>G (n.94-99412T>G)
c.94-99901T>G (n.94-99901T>G)
n.336-247548T>G
c.3227T>G (p.Leu1076Arg)
c.2882T>G (p.Leu961Arg)
c.3122T>G (p.Leu1041Arg)
Xg.32464611A>GCA412664786DMDn.3458T>C
c.3251T>C (p.Leu1084Pro)
c.3239T>C (p.Leu1080Pro)
c.94-99412T>C (n.94-99412T>C)
c.94-99901T>C (n.94-99901T>C)
n.336-247548T>C
c.3227T>C (p.Leu1076Pro)
c.2882T>C (p.Leu961Pro)
c.3122T>C (p.Leu1041Pro)
Xg.32464611A>TCA412664788DMDn.3458T>A
c.3251T>A (p.Leu1084Gln)
c.3239T>A (p.Leu1080Gln)
c.94-99412T>A (n.94-99412T>A)
c.94-99901T>A (n.94-99901T>A)
n.336-247548T>A
c.3227T>A (p.Leu1076Gln)
c.2882T>A (p.Leu961Gln)
c.3122T>A (p.Leu1041Gln)
Xg.32464611dupCA2580100715DMDn.3458dup
c.3251dup (p.Gln1087AlafsTer11)
c.3239dup (p.Gln1083AlafsTer11)
c.94-99412dup (n.94-99412dup)
c.94-99901dup (n.94-99901dup)
n.336-247548dup
c.3227dup (p.Gln1079AlafsTer11)
c.2882dup (p.Gln964AlafsTer11)
c.3122dup (p.Gln1044AlafsTer11)
 ClinVar
Xg.32464612G>ACA515715512DMDn.3457C>T
c.3250C>T (p.Leu1084=)
c.3238C>T (p.Leu1080=)
c.94-99413C>T (n.94-99413C>T)
c.94-99902C>T (n.94-99902C>T)
n.336-247549C>T
c.3226C>T (p.Leu1076=)
c.2881C>T (p.Leu961=)
c.3121C>T (p.Leu1041=)
 gnomAD v4
Xg.32464612G>CCA412664790DMDn.3457C>G
c.3250C>G (p.Leu1084Val)
c.3238C>G (p.Leu1080Val)
c.94-99413C>G (n.94-99413C>G)
c.94-99902C>G (n.94-99902C>G)
n.336-247549C>G
c.3226C>G (p.Leu1076Val)
c.2881C>G (p.Leu961Val)
c.3121C>G (p.Leu1041Val)
 dbSNP
Xg.32464612G=CA2422815805DMDn.3457C=
c.3250C= (p.Leu1084=)
c.3238C= (p.Leu1080=)
c.94-99413C= (n.94-99413C=)
c.94-99902C= (n.94-99902C=)
n.336-247549C=
c.3226C= (p.Leu1076=)
c.2881C= (p.Leu961=)
c.3121C= (p.Leu1041=)
Xg.32464612G>TCA412664791DMDn.3457C>A
c.3250C>A (p.Leu1084Ile)
c.3238C>A (p.Leu1080Ile)
c.94-99413C>A (n.94-99413C>A)
c.94-99902C>A (n.94-99902C>A)
n.336-247549C>A
c.3226C>A (p.Leu1076Ile)
c.2881C>A (p.Leu961Ile)
c.3121C>A (p.Leu1041Ile)
Xg.32464613A=CA2422815806DMDn.3456T=
c.3249T= (p.Ile1083=)
c.3237T= (p.Ile1079=)
c.94-99414T= (n.94-99414T=)
c.94-99903T= (n.94-99903T=)
n.336-247550T=
c.3225T= (p.Ile1075=)
c.2880T= (p.Ile960=)
c.3120T= (p.Ile1040=)
Xg.32464613A>CCA412664794DMDn.3456T>G
c.3249T>G (p.Ile1083Met)
c.3237T>G (p.Ile1079Met)
c.94-99414T>G (n.94-99414T>G)
c.94-99903T>G (n.94-99903T>G)
n.336-247550T>G
c.3225T>G (p.Ile1075Met)
c.2880T>G (p.Ile960Met)
c.3120T>G (p.Ile1040Met)
Xg.32464613A>GCA515715513DMDn.3456T>C
c.3249T>C (p.Ile1083=)
c.3237T>C (p.Ile1079=)
c.94-99414T>C (n.94-99414T>C)
c.94-99903T>C (n.94-99903T>C)
n.336-247550T>C
c.3225T>C (p.Ile1075=)
c.2880T>C (p.Ile960=)
c.3120T>C (p.Ile1040=)
Xg.32464613A>TCA515715514DMDn.3456T>A
c.3249T>A (p.Ile1083=)
c.3237T>A (p.Ile1079=)
c.94-99414T>A (n.94-99414T>A)
c.94-99903T>A (n.94-99903T>A)
n.336-247550T>A
c.3225T>A (p.Ile1075=)
c.2880T>A (p.Ile960=)
c.3120T>A (p.Ile1040=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32464614A>CCA412664798DMDn.3455T>G
c.3248T>G (p.Ile1083Ser)
c.3236T>G (p.Ile1079Ser)
c.94-99415T>G (n.94-99415T>G)
c.94-99904T>G (n.94-99904T>G)
n.336-247551T>G
c.3224T>G (p.Ile1075Ser)
c.2879T>G (p.Ile960Ser)
c.3119T>G (p.Ile1040Ser)
Xg.32464614A>GCA412664801DMDn.3455T>C
c.3248T>C (p.Ile1083Thr)
c.3236T>C (p.Ile1079Thr)
c.94-99415T>C (n.94-99415T>C)
c.94-99904T>C (n.94-99904T>C)
n.336-247551T>C
c.3224T>C (p.Ile1075Thr)
c.2879T>C (p.Ile960Thr)
c.3119T>C (p.Ile1040Thr)
Xg.32464614A>TCA412664796DMDn.3455T>A
c.3248T>A (p.Ile1083Asn)
c.3236T>A (p.Ile1079Asn)
c.94-99415T>A (n.94-99415T>A)
c.94-99904T>A (n.94-99904T>A)
n.336-247551T>A
c.3224T>A (p.Ile1075Asn)
c.2879T>A (p.Ile960Asn)
c.3119T>A (p.Ile1040Asn)
 ClinVar dbSNP
Xg.32464615T>ACA412664804DMDn.3454A>T
c.3247A>T (p.Ile1083Phe)
c.3235A>T (p.Ile1079Phe)
c.94-99416A>T (n.94-99416A>T)
c.94-99905A>T (n.94-99905A>T)
n.336-247552A>T
c.3223A>T (p.Ile1075Phe)
c.2878A>T (p.Ile960Phe)
c.3118A>T (p.Ile1040Phe)
Xg.32464615T>CCA412664806DMDn.3454A>G
c.3247A>G (p.Ile1083Val)
c.3235A>G (p.Ile1079Val)
c.94-99416A>G (n.94-99416A>G)
c.94-99905A>G (n.94-99905A>G)
n.336-247552A>G
c.3223A>G (p.Ile1075Val)
c.2878A>G (p.Ile960Val)
c.3118A>G (p.Ile1040Val)
Xg.32464615T>GCA412664811DMDn.3454A>C
c.3247A>C (p.Ile1083Leu)
c.3235A>C (p.Ile1079Leu)
c.94-99416A>C (n.94-99416A>C)
c.94-99905A>C (n.94-99905A>C)
n.336-247552A>C
c.3223A>C (p.Ile1075Leu)
c.2878A>C (p.Ile960Leu)
c.3118A>C (p.Ile1040Leu)
Xg.32464615T=CA2422815807DMDn.3454A=
c.3247A= (p.Ile1083=)
c.3235A= (p.Ile1079=)
c.94-99416A= (n.94-99416A=)
c.94-99905A= (n.94-99905A=)
n.336-247552A=
c.3223A= (p.Ile1075=)
c.2878A= (p.Ile960=)
c.3118A= (p.Ile1040=)
Xg.32464617delCA2695231982DMDn.3454del
c.3247del (p.Ile1083PhefsTer2)
c.3235del (p.Ile1079PhefsTer2)
c.94-99416del (n.94-99416del)
c.94-99905del (n.94-99905del)
n.336-247552del
c.3223del (p.Ile1075PhefsTer2)
c.2878del (p.Ile960PhefsTer2)
c.3118del (p.Ile1040PhefsTer2)
Xg.32464616T>ACA10379323DMDn.3453A>T
c.3246A>T (p.Glu1082Asp)
c.3234A>T (p.Glu1078Asp)
c.94-99417A>T (n.94-99417A>T)
c.94-99906A>T (n.94-99906A>T)
n.336-247553A>T
c.3222A>T (p.Glu1074Asp)
c.2877A>T (p.Glu959Asp)
c.3117A>T (p.Glu1039Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464616T>CCA515715515DMDn.3453A>G
c.3246A>G (p.Glu1082=)
c.3234A>G (p.Glu1078=)
c.94-99417A>G (n.94-99417A>G)
c.94-99906A>G (n.94-99906A>G)
n.336-247553A>G
c.3222A>G (p.Glu1074=)
c.2877A>G (p.Glu959=)
c.3117A>G (p.Glu1039=)
 ClinVar dbSNP gnomAD v4
Xg.32464616T>GCA412664815DMDn.3453A>C
c.3246A>C (p.Glu1082Asp)
c.3234A>C (p.Glu1078Asp)
c.94-99417A>C (n.94-99417A>C)
c.94-99906A>C (n.94-99906A>C)
n.336-247553A>C
c.3222A>C (p.Glu1074Asp)
c.2877A>C (p.Glu959Asp)
c.3117A>C (p.Glu1039Asp)
 COSMIC COSMIC COSMIC
Xg.32464616T=CA2422815808DMDn.3453A=
c.3246A= (p.Glu1082=)
c.3234A= (p.Glu1078=)
c.94-99417A= (n.94-99417A=)
c.94-99906A= (n.94-99906A=)
n.336-247553A=
c.3222A= (p.Glu1074=)
c.2877A= (p.Glu959=)
c.3117A= (p.Glu1039=)
Xg.32464617_32464618insTTTAGAAATTCA266992DMDn.3453_3454insTTTCTAAAAA
c.3246_3247insTTTCTAAAAA (p.Ile1083PhefsTer18)
c.3234_3235insTTTCTAAAAA (p.Ile1079PhefsTer18)
c.94-99417_94-99416insTTTCTAAAAA (n.94-99417_94-99416insTTTCTAAAAA)
c.94-99906_94-99905insTTTCTAAAAA (n.94-99906_94-99905insTTTCTAAAAA)
n.336-247553_336-247552insTTTCTAAAAA
c.3222_3223insTTTCTAAAAA (p.Ile1075PhefsTer18)
c.2877_2878insTTTCTAAAAA (p.Ile960PhefsTer18)
c.3117_3118insTTTCTAAAAA (p.Ile1040PhefsTer18)
 dbSNP
Xg.32464617T>ACA412664817DMDn.3452A>T
c.3245A>T (p.Glu1082Val)
c.3233A>T (p.Glu1078Val)
c.94-99418A>T (n.94-99418A>T)
c.94-99907A>T (n.94-99907A>T)
n.336-247554A>T
c.3221A>T (p.Glu1074Val)
c.2876A>T (p.Glu959Val)
c.3116A>T (p.Glu1039Val)
Xg.32464617T>CCA412664819DMDn.3452A>G
c.3245A>G (p.Glu1082Gly)
c.3233A>G (p.Glu1078Gly)
c.94-99418A>G (n.94-99418A>G)
c.94-99907A>G (n.94-99907A>G)
n.336-247554A>G
c.3221A>G (p.Glu1074Gly)
c.2876A>G (p.Glu959Gly)
c.3116A>G (p.Glu1039Gly)
Xg.32464617T>GCA412664821DMDn.3452A>C
c.3245A>C (p.Glu1082Ala)
c.3233A>C (p.Glu1078Ala)
c.94-99418A>C (n.94-99418A>C)
c.94-99907A>C (n.94-99907A>C)
n.336-247554A>C
c.3221A>C (p.Glu1074Ala)
c.2876A>C (p.Glu959Ala)
c.3116A>C (p.Glu1039Ala)
Xg.32464618C>ACA412664823DMDn.3451G>T
c.3244G>T (p.Glu1082Ter)
c.3232G>T (p.Glu1078Ter)
c.94-99419G>T (n.94-99419G>T)
c.94-99908G>T (n.94-99908G>T)
n.336-247555G>T
c.3220G>T (p.Glu1074Ter)
c.2875G>T (p.Glu959Ter)
c.3115G>T (p.Glu1039Ter)
 dbSNP COSMIC COSMIC COSMIC
Xg.32464618C>GCA412664825DMDn.3451G>C
c.3244G>C (p.Glu1082Gln)
c.3232G>C (p.Glu1078Gln)
c.94-99419G>C (n.94-99419G>C)
c.94-99908G>C (n.94-99908G>C)
n.336-247555G>C
c.3220G>C (p.Glu1074Gln)
c.2875G>C (p.Glu959Gln)
c.3115G>C (p.Glu1039Gln)
Xg.32464618C>TCA412664827DMDn.3451G>A
c.3244G>A (p.Glu1082Lys)
c.3232G>A (p.Glu1078Lys)
c.94-99419G>A (n.94-99419G>A)
c.94-99908G>A (n.94-99908G>A)
n.336-247555G>A
c.3220G>A (p.Glu1074Lys)
c.2875G>A (p.Glu959Lys)
c.3115G>A (p.Glu1039Lys)
Xg.32464619T>ACA515715519DMDn.3450A>T
c.3243A>T (p.Ser1081=)
c.3231A>T (p.Ser1077=)
c.94-99420A>T (n.94-99420A>T)
c.94-99909A>T (n.94-99909A>T)
n.336-247556A>T
c.3219A>T (p.Ser1073=)
c.2874A>T (p.Ser958=)
c.3114A>T (p.Ser1038=)
Xg.32464619T>CCA515715517DMDn.3450A>G
c.3243A>G (p.Ser1081=)
c.3231A>G (p.Ser1077=)
c.94-99420A>G (n.94-99420A>G)
c.94-99909A>G (n.94-99909A>G)
n.336-247556A>G
c.3219A>G (p.Ser1073=)
c.2874A>G (p.Ser958=)
c.3114A>G (p.Ser1038=)
Xg.32464619T>GCA515715518DMDn.3450A>C
c.3243A>C (p.Ser1081=)
c.3231A>C (p.Ser1077=)
c.94-99420A>C (n.94-99420A>C)
c.94-99909A>C (n.94-99909A>C)
n.336-247556A>C
c.3219A>C (p.Ser1073=)
c.2874A>C (p.Ser958=)
c.3114A>C (p.Ser1038=)
 ClinVar dbSNP
Xg.32464619T=CA2422815809DMDn.3450A=
c.3243A= (p.Ser1081=)
c.3231A= (p.Ser1077=)
c.94-99420A= (n.94-99420A=)
c.94-99909A= (n.94-99909A=)
n.336-247556A=
c.3219A= (p.Ser1073=)
c.2874A= (p.Ser958=)
c.3114A= (p.Ser1038=)
Xg.32464620G>ACA10379324DMDn.3449C>T
c.3242C>T (p.Ser1081Leu)
c.3230C>T (p.Ser1077Leu)
c.94-99421C>T (n.94-99421C>T)
c.94-99910C>T (n.94-99910C>T)
n.336-247557C>T
c.3218C>T (p.Ser1073Leu)
c.2873C>T (p.Ser958Leu)
c.3113C>T (p.Ser1038Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32464620G>CCA412664832DMDn.3449C>G
c.3242C>G (p.Ser1081Ter)
c.3230C>G (p.Ser1077Ter)
c.94-99421C>G (n.94-99421C>G)
c.94-99910C>G (n.94-99910C>G)
n.336-247557C>G
c.3218C>G (p.Ser1073Ter)
c.2873C>G (p.Ser958Ter)
c.3113C>G (p.Ser1038Ter)
Xg.32464620G=CA2422815810DMDn.3449C=
c.3242C= (p.Ser1081=)
c.3230C= (p.Ser1077=)
c.94-99421C= (n.94-99421C=)
c.94-99910C= (n.94-99910C=)
n.336-247557C=
c.3218C= (p.Ser1073=)
c.2873C= (p.Ser958=)
c.3113C= (p.Ser1038=)
Xg.32464620G>TCA412664829DMDn.3449C>A
c.3242C>A (p.Ser1081Ter)
c.3230C>A (p.Ser1077Ter)
c.94-99421C>A (n.94-99421C>A)
c.94-99910C>A (n.94-99910C>A)
n.336-247557C>A
c.3218C>A (p.Ser1073Ter)
c.2873C>A (p.Ser958Ter)
c.3113C>A (p.Ser1038Ter)
 gnomAD v4
Xg.32464621A=CA2422815811DMDn.3448T=
c.3241T= (p.Ser1081=)
c.3229T= (p.Ser1077=)
c.94-99422T= (n.94-99422T=)
c.94-99911T= (n.94-99911T=)
n.336-247558T=
c.3217T= (p.Ser1073=)
c.2872T= (p.Ser958=)
c.3112T= (p.Ser1038=)
Xg.32464621A>CCA412664834DMDn.3448T>G
c.3241T>G (p.Ser1081Ala)
c.3229T>G (p.Ser1077Ala)
c.94-99422T>G (n.94-99422T>G)
c.94-99911T>G (n.94-99911T>G)
n.336-247558T>G
c.3217T>G (p.Ser1073Ala)
c.2872T>G (p.Ser958Ala)
c.3112T>G (p.Ser1038Ala)
Xg.32464621A>GCA412664836DMDn.3448T>C
c.3241T>C (p.Ser1081Pro)
c.3229T>C (p.Ser1077Pro)
c.94-99422T>C (n.94-99422T>C)
c.94-99911T>C (n.94-99911T>C)
n.336-247558T>C
c.3217T>C (p.Ser1073Pro)
c.2872T>C (p.Ser958Pro)
c.3112T>C (p.Ser1038Pro)
 dbSNP gnomAD v4
Xg.32464621A>TCA412664838DMDn.3448T>A
c.3241T>A (p.Ser1081Thr)
c.3229T>A (p.Ser1077Thr)
c.94-99422T>A (n.94-99422T>A)
c.94-99911T>A (n.94-99911T>A)
n.336-247558T>A
c.3217T>A (p.Ser1073Thr)
c.2872T>A (p.Ser958Thr)
c.3112T>A (p.Ser1038Thr)
Xg.32464622A>CCA412664839DMDn.3447T>G
c.3240T>G (p.Asp1080Glu)
c.3228T>G (p.Asp1076Glu)
c.94-99423T>G (n.94-99423T>G)
c.94-99912T>G (n.94-99912T>G)
n.336-247559T>G
c.3216T>G (p.Asp1072Glu)
c.2871T>G (p.Asp957Glu)
c.3111T>G (p.Asp1037Glu)
Xg.32464622A>GCA515715520DMDn.3447T>C
c.3240T>C (p.Asp1080=)
c.3228T>C (p.Asp1076=)
c.94-99423T>C (n.94-99423T>C)
c.94-99912T>C (n.94-99912T>C)
n.336-247559T>C
c.3216T>C (p.Asp1072=)
c.2871T>C (p.Asp957=)
c.3111T>C (p.Asp1037=)
Xg.32464622A>TCA412664841DMDn.3447T>A
c.3240T>A (p.Asp1080Glu)
c.3228T>A (p.Asp1076Glu)
c.94-99423T>A (n.94-99423T>A)
c.94-99912T>A (n.94-99912T>A)
n.336-247559T>A
c.3216T>A (p.Asp1072Glu)
c.2871T>A (p.Asp957Glu)
c.3111T>A (p.Asp1037Glu)
Xg.32464623T>ACA412664845DMDn.3446A>T
c.3239A>T (p.Asp1080Val)
c.3227A>T (p.Asp1076Val)
c.94-99424A>T (n.94-99424A>T)
c.94-99913A>T (n.94-99913A>T)
n.336-247560A>T
c.3215A>T (p.Asp1072Val)
c.2870A>T (p.Asp957Val)
c.3110A>T (p.Asp1037Val)
Xg.32464623T>CCA10605583DMDn.3446A>G
c.3239A>G (p.Asp1080Gly)
c.3227A>G (p.Asp1076Gly)
c.94-99424A>G (n.94-99424A>G)
c.94-99913A>G (n.94-99913A>G)
n.336-247560A>G
c.3215A>G (p.Asp1072Gly)
c.2870A>G (p.Asp957Gly)
c.3110A>G (p.Asp1037Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32464623T>GCA412664844DMDn.3446A>C
c.3239A>C (p.Asp1080Ala)
c.3227A>C (p.Asp1076Ala)
c.94-99424A>C (n.94-99424A>C)
c.94-99913A>C (n.94-99913A>C)
n.336-247560A>C
c.3215A>C (p.Asp1072Ala)
c.2870A>C (p.Asp957Ala)
c.3110A>C (p.Asp1037Ala)
Xg.32464623T=CA2422815813DMDn.3446A=
c.3239A= (p.Asp1080=)
c.3227A= (p.Asp1076=)
c.94-99424A= (n.94-99424A=)
c.94-99913A= (n.94-99913A=)
n.336-247560A=
c.3215A= (p.Asp1072=)
c.2870A= (p.Asp957=)
c.3110A= (p.Asp1037=)
Xg.32464623_32464624delinsTCCA2422815812DMDn.3445_3446delinsGA
c.3238_3239delinsGA (p.Asp1080=)
c.3226_3227delinsGA (p.Asp1076=)
c.94-99425_94-99424delinsGA (n.94-99425_94-99424delinsGA)
c.94-99914_94-99913delinsGA (n.94-99914_94-99913delinsGA)
n.336-247561_336-247560delinsGA
c.3214_3215delinsGA (p.Asp1072=)
c.2869_2870delinsGA (p.Asp957=)
c.3109_3110delinsGA (p.Asp1037=)
Xg.32464624C>ACA328002415DMDn.3445G>T
c.3238G>T (p.Asp1080Tyr)
c.3226G>T (p.Asp1076Tyr)
c.94-99425G>T (n.94-99425G>T)
c.94-99914G>T (n.94-99914G>T)
n.336-247561G>T
c.3214G>T (p.Asp1072Tyr)
c.2869G>T (p.Asp957Tyr)
c.3109G>T (p.Asp1037Tyr)
 dbSNP gnomAD v4
Xg.32464624C=CA2422815814DMDn.3445G=
c.3238G= (p.Asp1080=)
c.3226G= (p.Asp1076=)
c.94-99425G= (n.94-99425G=)
c.94-99914G= (n.94-99914G=)
n.336-247561G=
c.3214G= (p.Asp1072=)
c.2869G= (p.Asp957=)
c.3109G= (p.Asp1037=)
Xg.32464624C>GCA328002418DMDn.3445G>C
c.3238G>C (p.Asp1080His)
c.3226G>C (p.Asp1076His)
c.94-99425G>C (n.94-99425G>C)
c.94-99914G>C (n.94-99914G>C)
n.336-247561G>C
c.3214G>C (p.Asp1072His)
c.2869G>C (p.Asp957His)
c.3109G>C (p.Asp1037His)
 dbSNP gnomAD v4
Xg.32464624C>TCA412664847DMDn.3445G>A
c.3238G>A (p.Asp1080Asn)
c.3226G>A (p.Asp1076Asn)
c.94-99425G>A (n.94-99425G>A)
c.94-99914G>A (n.94-99914G>A)
n.336-247561G>A
c.3214G>A (p.Asp1072Asn)
c.2869G>A (p.Asp957Asn)
c.3109G>A (p.Asp1037Asn)
Xg.32464627delCA10605046DMDn.3445del
c.3238del (p.Asp1080IlefsTer5)
c.3226del (p.Asp1076IlefsTer5)
c.94-99425del (n.94-99425del)
c.94-99914del (n.94-99914del)
n.336-247561del
c.3214del (p.Asp1072IlefsTer5)
c.2869del (p.Asp957IlefsTer5)
c.3109del (p.Asp1037IlefsTer5)
 ClinVar dbSNP
Xg.32464625C>ACA515715521DMDn.3444G>T
c.3237G>T (p.Gly1079=)
c.3225G>T (p.Gly1075=)
c.94-99426G>T (n.94-99426G>T)
c.94-99915G>T (n.94-99915G>T)
n.336-247562G>T
c.3213G>T (p.Gly1071=)
c.2868G>T (p.Gly956=)
c.3108G>T (p.Gly1036=)
Xg.32464625C=CA2422815815DMDn.3444G=
c.3237G= (p.Gly1079=)
c.3225G= (p.Gly1075=)
c.94-99426G= (n.94-99426G=)
c.94-99915G= (n.94-99915G=)
n.336-247562G=
c.3213G= (p.Gly1071=)
c.2868G= (p.Gly956=)
c.3108G= (p.Gly1036=)
Xg.32464625C>GCA515715522DMDn.3444G>C
c.3237G>C (p.Gly1079=)
c.3225G>C (p.Gly1075=)
c.94-99426G>C (n.94-99426G>C)
c.94-99915G>C (n.94-99915G>C)
n.336-247562G>C
c.3213G>C (p.Gly1071=)
c.2868G>C (p.Gly956=)
c.3108G>C (p.Gly1036=)
Xg.32464625C>TCA10379325DMDn.3444G>A
c.3237G>A (p.Gly1079=)
c.3225G>A (p.Gly1075=)
c.94-99426G>A (n.94-99426G>A)
c.94-99915G>A (n.94-99915G>A)
n.336-247562G>A
c.3213G>A (p.Gly1071=)
c.2868G>A (p.Gly956=)
c.3108G>A (p.Gly1036=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32464626C>ACA412664853DMDn.3443G>T
c.3236G>T (p.Gly1079Val)
c.3224G>T (p.Gly1075Val)
c.94-99427G>T (n.94-99427G>T)
c.94-99916G>T (n.94-99916G>T)
n.336-247563G>T
c.3212G>T (p.Gly1071Val)
c.2867G>T (p.Gly956Val)
c.3107G>T (p.Gly1036Val)
Xg.32464626C>GCA412664852DMDn.3443G>C
c.3236G>C (p.Gly1079Ala)
c.3224G>C (p.Gly1075Ala)
c.94-99427G>C (n.94-99427G>C)
c.94-99916G>C (n.94-99916G>C)
n.336-247563G>C
c.3212G>C (p.Gly1071Ala)
c.2867G>C (p.Gly956Ala)
c.3107G>C (p.Gly1036Ala)
Xg.32464626C>TCA412664850DMDn.3443G>A
c.3236G>A (p.Gly1079Glu)
c.3224G>A (p.Gly1075Glu)
c.94-99427G>A (n.94-99427G>A)
c.94-99916G>A (n.94-99916G>A)
n.336-247563G>A
c.3212G>A (p.Gly1071Glu)
c.2867G>A (p.Gly956Glu)
c.3107G>A (p.Gly1036Glu)
Xg.32464627C>ACA412664855DMDn.3442G>T
c.3235G>T (p.Gly1079Trp)
c.3223G>T (p.Gly1075Trp)
c.94-99428G>T (n.94-99428G>T)
c.94-99917G>T (n.94-99917G>T)
n.336-247564G>T
c.3211G>T (p.Gly1071Trp)
c.2866G>T (p.Gly956Trp)
c.3106G>T (p.Gly1036Trp)
Xg.32464627C>GCA412664858DMDn.3442G>C
c.3235G>C (p.Gly1079Arg)
c.3223G>C (p.Gly1075Arg)
c.94-99428G>C (n.94-99428G>C)
c.94-99917G>C (n.94-99917G>C)
n.336-247564G>C
c.3211G>C (p.Gly1071Arg)
c.2866G>C (p.Gly956Arg)
c.3106G>C (p.Gly1036Arg)
Xg.32464627C>TCA412664857DMDn.3442G>A
c.3235G>A (p.Gly1079Arg)
c.3223G>A (p.Gly1075Arg)
c.94-99428G>A (n.94-99428G>A)
c.94-99917G>A (n.94-99917G>A)
n.336-247564G>A
c.3211G>A (p.Gly1071Arg)
c.2866G>A (p.Gly956Arg)
c.3106G>A (p.Gly1036Arg)
Xg.32464628A>CCA515715523DMDn.3441T>G
c.3234T>G (p.Leu1078=)
c.3222T>G (p.Leu1074=)
c.94-99429T>G (n.94-99429T>G)
c.94-99918T>G (n.94-99918T>G)
n.336-247565T>G
c.3210T>G (p.Leu1070=)
c.2865T>G (p.Leu955=)
c.3105T>G (p.Leu1035=)
Xg.32464628A>GCA515715524DMDn.3441T>C
c.3234T>C (p.Leu1078=)
c.3222T>C (p.Leu1074=)
c.94-99429T>C (n.94-99429T>C)
c.94-99918T>C (n.94-99918T>C)
n.336-247565T>C
c.3210T>C (p.Leu1070=)
c.2865T>C (p.Leu955=)
c.3105T>C (p.Leu1035=)
Xg.32464628A>TCA515715525DMDn.3441T>A
c.3234T>A (p.Leu1078=)
c.3222T>A (p.Leu1074=)
c.94-99429T>A (n.94-99429T>A)
c.94-99918T>A (n.94-99918T>A)
n.336-247565T>A
c.3210T>A (p.Leu1070=)
c.2865T>A (p.Leu955=)
c.3105T>A (p.Leu1035=)
Xg.32464629A>CCA412664859DMDn.3440T>G
c.3233T>G (p.Leu1078Arg)
c.3221T>G (p.Leu1074Arg)
c.94-99430T>G (n.94-99430T>G)
c.94-99919T>G (n.94-99919T>G)
n.336-247566T>G
c.3209T>G (p.Leu1070Arg)
c.2864T>G (p.Leu955Arg)
c.3104T>G (p.Leu1035Arg)
Xg.32464629A>GCA412664861DMDn.3440T>C
c.3233T>C (p.Leu1078Pro)
c.3221T>C (p.Leu1074Pro)
c.94-99430T>C (n.94-99430T>C)
c.94-99919T>C (n.94-99919T>C)
n.336-247566T>C
c.3209T>C (p.Leu1070Pro)
c.2864T>C (p.Leu955Pro)
c.3104T>C (p.Leu1035Pro)
Xg.32464629A>TCA412664860DMDn.3440T>A
c.3233T>A (p.Leu1078His)
c.3221T>A (p.Leu1074His)
c.94-99430T>A (n.94-99430T>A)
c.94-99919T>A (n.94-99919T>A)
n.336-247566T>A
c.3209T>A (p.Leu1070His)
c.2864T>A (p.Leu955His)
c.3104T>A (p.Leu1035His)
Xg.32464632_32464636delCA2580616942DMDn.3436_3440del
c.3229_3233del (p.Ala1077TrpfsTer19)
c.3217_3221del (p.Ala1073TrpfsTer19)
c.94-99434_94-99430del (n.94-99434_94-99430del)
c.94-99923_94-99919del (n.94-99923_94-99919del)
n.336-247570_336-247566del
c.3205_3209del (p.Ala1069TrpfsTer19)
c.2860_2864del (p.Ala954TrpfsTer19)
c.3100_3104del (p.Ala1034TrpfsTer19)
 ClinVar
Xg.32464630G>ACA10379326DMDn.3439C>T
c.3232C>T (p.Leu1078Phe)
c.3220C>T (p.Leu1074Phe)
c.94-99431C>T (n.94-99431C>T)
c.94-99920C>T (n.94-99920C>T)
n.336-247567C>T
c.3208C>T (p.Leu1070Phe)
c.2863C>T (p.Leu955Phe)
c.3103C>T (p.Leu1035Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464630G>CCA412664862DMDn.3439C>G
c.3232C>G (p.Leu1078Val)
c.3220C>G (p.Leu1074Val)
c.94-99431C>G (n.94-99431C>G)
c.94-99920C>G (n.94-99920C>G)
n.336-247567C>G
c.3208C>G (p.Leu1070Val)
c.2863C>G (p.Leu955Val)
c.3103C>G (p.Leu1035Val)
Xg.32464630G=CA2422815816DMDn.3439C=
c.3232C= (p.Leu1078=)
c.3220C= (p.Leu1074=)
c.94-99431C= (n.94-99431C=)
c.94-99920C= (n.94-99920C=)
n.336-247567C=
c.3208C= (p.Leu1070=)
c.2863C= (p.Leu955=)
c.3103C= (p.Leu1035=)
Xg.32464630G>TCA412664863DMDn.3439C>A
c.3232C>A (p.Leu1078Ile)
c.3220C>A (p.Leu1074Ile)
c.94-99431C>A (n.94-99431C>A)
c.94-99920C>A (n.94-99920C>A)
n.336-247567C>A
c.3208C>A (p.Leu1070Ile)
c.2863C>A (p.Leu955Ile)
c.3103C>A (p.Leu1035Ile)
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.32464631G>ACA515715526DMDn.3438C>T
c.3231C>T (p.Ala1077=)
c.3219C>T (p.Ala1073=)
c.94-99432C>T (n.94-99432C>T)
c.94-99921C>T (n.94-99921C>T)
n.336-247568C>T
c.3207C>T (p.Ala1069=)
c.2862C>T (p.Ala954=)
c.3102C>T (p.Ala1034=)
 ClinVar dbSNP gnomAD v4
Xg.32464631G>CCA515715527DMDn.3438C>G
c.3231C>G (p.Ala1077=)
c.3219C>G (p.Ala1073=)
c.94-99432C>G (n.94-99432C>G)
c.94-99921C>G (n.94-99921C>G)
n.336-247568C>G
c.3207C>G (p.Ala1069=)
c.2862C>G (p.Ala954=)
c.3102C>G (p.Ala1034=)
Xg.32464631G=CA2422815817DMDn.3438C=
c.3231C= (p.Ala1077=)
c.3219C= (p.Ala1073=)
c.94-99432C= (n.94-99432C=)
c.94-99921C= (n.94-99921C=)
n.336-247568C=
c.3207C= (p.Ala1069=)
c.2862C= (p.Ala954=)
c.3102C= (p.Ala1034=)
Xg.32464631G>TCA10379327DMDn.3438C>A
c.3231C>A (p.Ala1077=)
c.3219C>A (p.Ala1073=)
c.94-99432C>A (n.94-99432C>A)
c.94-99921C>A (n.94-99921C>A)
n.336-247568C>A
c.3207C>A (p.Ala1069=)
c.2862C>A (p.Ala954=)
c.3102C>A (p.Ala1034=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464632G>ACA412664867DMDn.3437C>T
c.3230C>T (p.Ala1077Val)
c.3218C>T (p.Ala1073Val)
c.94-99433C>T (n.94-99433C>T)
c.94-99922C>T (n.94-99922C>T)
n.336-247569C>T
c.3206C>T (p.Ala1069Val)
c.2861C>T (p.Ala954Val)
c.3101C>T (p.Ala1034Val)
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.32464632G>CCA412664868DMDn.3437C>G
c.3230C>G (p.Ala1077Gly)
c.3218C>G (p.Ala1073Gly)
c.94-99433C>G (n.94-99433C>G)
c.94-99922C>G (n.94-99922C>G)
n.336-247569C>G
c.3206C>G (p.Ala1069Gly)
c.2861C>G (p.Ala954Gly)
c.3101C>G (p.Ala1034Gly)
Xg.32464632G>TCA412664870DMDn.3437C>A
c.3230C>A (p.Ala1077Asp)
c.3218C>A (p.Ala1073Asp)
c.94-99433C>A (n.94-99433C>A)
c.94-99922C>A (n.94-99922C>A)
n.336-247569C>A
c.3206C>A (p.Ala1069Asp)
c.2861C>A (p.Ala954Asp)
c.3101C>A (p.Ala1034Asp)
 gnomAD v4
Xg.32464633C>ACA412664872DMDn.3436G>T
c.3229G>T (p.Ala1077Ser)
c.3217G>T (p.Ala1073Ser)
c.94-99434G>T (n.94-99434G>T)
c.94-99923G>T (n.94-99923G>T)
n.336-247570G>T
c.3205G>T (p.Ala1069Ser)
c.2860G>T (p.Ala954Ser)
c.3100G>T (p.Ala1034Ser)
 ClinVar gnomAD v4
Xg.32464633C>GCA412664876DMDn.3436G>C
c.3229G>C (p.Ala1077Pro)
c.3217G>C (p.Ala1073Pro)
c.94-99434G>C (n.94-99434G>C)
c.94-99923G>C (n.94-99923G>C)
n.336-247570G>C
c.3205G>C (p.Ala1069Pro)
c.2860G>C (p.Ala954Pro)
c.3100G>C (p.Ala1034Pro)
Xg.32464633C>TCA412664878DMDn.3436G>A
c.3229G>A (p.Ala1077Thr)
c.3217G>A (p.Ala1073Thr)
c.94-99434G>A (n.94-99434G>A)
c.94-99923G>A (n.94-99923G>A)
n.336-247570G>A
c.3205G>A (p.Ala1069Thr)
c.2860G>A (p.Ala954Thr)
c.3100G>A (p.Ala1034Thr)
Xg.32464634A>CCA515715529DMDn.3435T>G
c.3228T>G (p.Pro1076=)
c.3216T>G (p.Pro1072=)
c.94-99435T>G (n.94-99435T>G)
c.94-99924T>G (n.94-99924T>G)
n.336-247571T>G
c.3204T>G (p.Pro1068=)
c.2859T>G (p.Pro953=)
c.3099T>G (p.Pro1033=)
Xg.32464634A>GCA515715530DMDn.3435T>C
c.3228T>C (p.Pro1076=)
c.3216T>C (p.Pro1072=)
c.94-99435T>C (n.94-99435T>C)
c.94-99924T>C (n.94-99924T>C)
n.336-247571T>C
c.3204T>C (p.Pro1068=)
c.2859T>C (p.Pro953=)
c.3099T>C (p.Pro1033=)
Xg.32464634A>TCA515715531DMDn.3435T>A
c.3228T>A (p.Pro1076=)
c.3216T>A (p.Pro1072=)
c.94-99435T>A (n.94-99435T>A)
c.94-99924T>A (n.94-99924T>A)
n.336-247571T>A
c.3204T>A (p.Pro1068=)
c.2859T>A (p.Pro953=)
c.3099T>A (p.Pro1033=)
Xg.32464635G>ACA412664883DMDn.3434C>T
c.3227C>T (p.Pro1076Leu)
c.3215C>T (p.Pro1072Leu)
c.94-99436C>T (n.94-99436C>T)
c.94-99925C>T (n.94-99925C>T)
n.336-247572C>T
c.3203C>T (p.Pro1068Leu)
c.2858C>T (p.Pro953Leu)
c.3098C>T (p.Pro1033Leu)
 gnomAD v4
Xg.32464635G>CCA412664882DMDn.3434C>G
c.3227C>G (p.Pro1076Arg)
c.3215C>G (p.Pro1072Arg)
c.94-99436C>G (n.94-99436C>G)
c.94-99925C>G (n.94-99925C>G)
n.336-247572C>G
c.3203C>G (p.Pro1068Arg)
c.2858C>G (p.Pro953Arg)
c.3098C>G (p.Pro1033Arg)
Xg.32464635G>TCA412664880DMDn.3434C>A
c.3227C>A (p.Pro1076His)
c.3215C>A (p.Pro1072His)
c.94-99436C>A (n.94-99436C>A)
c.94-99925C>A (n.94-99925C>A)
n.336-247572C>A
c.3203C>A (p.Pro1068His)
c.2858C>A (p.Pro953His)
c.3098C>A (p.Pro1033His)
Xg.32464636G>ACA412664884DMDn.3433C>T
c.3226C>T (p.Pro1076Ser)
c.3214C>T (p.Pro1072Ser)
c.94-99437C>T (n.94-99437C>T)
c.94-99926C>T (n.94-99926C>T)
n.336-247573C>T
c.3202C>T (p.Pro1068Ser)
c.2857C>T (p.Pro953Ser)
c.3097C>T (p.Pro1033Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32464636G>CCA412664885DMDn.3433C>G
c.3226C>G (p.Pro1076Ala)
c.3214C>G (p.Pro1072Ala)
c.94-99437C>G (n.94-99437C>G)
c.94-99926C>G (n.94-99926C>G)
n.336-247573C>G
c.3202C>G (p.Pro1068Ala)
c.2857C>G (p.Pro953Ala)
c.3097C>G (p.Pro1033Ala)
Xg.32464636G=CA2422815818DMDn.3433C=
c.3226C= (p.Pro1076=)
c.3214C= (p.Pro1072=)
c.94-99437C= (n.94-99437C=)
c.94-99926C= (n.94-99926C=)
n.336-247573C=
c.3202C= (p.Pro1068=)
c.2857C= (p.Pro953=)
c.3097C= (p.Pro1033=)
Xg.32464636G>TCA412664886DMDn.3433C>A
c.3226C>A (p.Pro1076Thr)
c.3214C>A (p.Pro1072Thr)
c.94-99437C>A (n.94-99437C>A)
c.94-99926C>A (n.94-99926C>A)
n.336-247573C>A
c.3202C>A (p.Pro1068Thr)
c.2857C>A (p.Pro953Thr)
c.3097C>A (p.Pro1033Thr)
Xg.32464637C>ACA412664888DMDn.3432G>T
c.3225G>T (p.Trp1075Cys)
c.3213G>T (p.Trp1071Cys)
c.94-99438G>T (n.94-99438G>T)
c.94-99927G>T (n.94-99927G>T)
n.336-247574G>T
c.3201G>T (p.Trp1067Cys)
c.2856G>T (p.Trp952Cys)
c.3096G>T (p.Trp1032Cys)
Xg.32464637C>GCA412664890DMDn.3432G>C
c.3225G>C (p.Trp1075Cys)
c.3213G>C (p.Trp1071Cys)
c.94-99438G>C (n.94-99438G>C)
c.94-99927G>C (n.94-99927G>C)
n.336-247574G>C
c.3201G>C (p.Trp1067Cys)
c.2856G>C (p.Trp952Cys)
c.3096G>C (p.Trp1032Cys)
Xg.32464637C>TCA412664891DMDn.3432G>A
c.3225G>A (p.Trp1075Ter)
c.3213G>A (p.Trp1071Ter)
c.94-99438G>A (n.94-99438G>A)
c.94-99927G>A (n.94-99927G>A)
n.336-247574G>A
c.3201G>A (p.Trp1067Ter)
c.2856G>A (p.Trp952Ter)
c.3096G>A (p.Trp1032Ter)
 ClinVar gnomAD v4
Xg.32464638C>ACA412664896DMDn.3431G>T
c.3224G>T (p.Trp1075Leu)
c.3212G>T (p.Trp1071Leu)
c.94-99439G>T (n.94-99439G>T)
c.94-99928G>T (n.94-99928G>T)
n.336-247575G>T
c.3200G>T (p.Trp1067Leu)
c.2855G>T (p.Trp952Leu)
c.3095G>T (p.Trp1032Leu)
Xg.32464638C>GCA412664897DMDn.3431G>C
c.3224G>C (p.Trp1075Ser)
c.3212G>C (p.Trp1071Ser)
c.94-99439G>C (n.94-99439G>C)
c.94-99928G>C (n.94-99928G>C)
n.336-247575G>C
c.3200G>C (p.Trp1067Ser)
c.2855G>C (p.Trp952Ser)
c.3095G>C (p.Trp1032Ser)
Xg.32464638C>TCA412664898DMDn.3431G>A
c.3224G>A (p.Trp1075Ter)
c.3212G>A (p.Trp1071Ter)
c.94-99439G>A (n.94-99439G>A)
c.94-99928G>A (n.94-99928G>A)
n.336-247575G>A
c.3200G>A (p.Trp1067Ter)
c.2855G>A (p.Trp952Ter)
c.3095G>A (p.Trp1032Ter)
 dbSNP
Xg.32464639A>CCA412664901DMDn.3430T>G
c.3223T>G (p.Trp1075Gly)
c.3211T>G (p.Trp1071Gly)
c.94-99440T>G (n.94-99440T>G)
c.94-99929T>G (n.94-99929T>G)
n.336-247576T>G
c.3199T>G (p.Trp1067Gly)
c.2854T>G (p.Trp952Gly)
c.3094T>G (p.Trp1032Gly)
Xg.32464639A>GCA412664902DMDn.3430T>C
c.3223T>C (p.Trp1075Arg)
c.3211T>C (p.Trp1071Arg)
c.94-99440T>C (n.94-99440T>C)
c.94-99929T>C (n.94-99929T>C)
n.336-247576T>C
c.3199T>C (p.Trp1067Arg)
c.2854T>C (p.Trp952Arg)
c.3094T>C (p.Trp1032Arg)
Xg.32464639A>TCA412664904DMDn.3430T>A
c.3223T>A (p.Trp1075Arg)
c.3211T>A (p.Trp1071Arg)
c.94-99440T>A (n.94-99440T>A)
c.94-99929T>A (n.94-99929T>A)
n.336-247576T>A
c.3199T>A (p.Trp1067Arg)
c.2854T>A (p.Trp952Arg)
c.3094T>A (p.Trp1032Arg)
Xg.32464640T>ACA412664907DMDn.3429A>T
c.3222A>T (p.Glu1074Asp)
c.3210A>T (p.Glu1070Asp)
c.94-99441A>T (n.94-99441A>T)
c.94-99930A>T (n.94-99930A>T)
n.336-247577A>T
c.3198A>T (p.Glu1066Asp)
c.2853A>T (p.Glu951Asp)
c.3093A>T (p.Glu1031Asp)
Xg.32464640T>CCA515715532DMDn.3429A>G
c.3222A>G (p.Glu1074=)
c.3210A>G (p.Glu1070=)
c.94-99441A>G (n.94-99441A>G)
c.94-99930A>G (n.94-99930A>G)
n.336-247577A>G
c.3198A>G (p.Glu1066=)
c.2853A>G (p.Glu951=)
c.3093A>G (p.Glu1031=)
Xg.32464640T>GCA412664906DMDn.3429A>C
c.3222A>C (p.Glu1074Asp)
c.3210A>C (p.Glu1070Asp)
c.94-99441A>C (n.94-99441A>C)
c.94-99930A>C (n.94-99930A>C)
n.336-247577A>C
c.3198A>C (p.Glu1066Asp)
c.2853A>C (p.Glu951Asp)
c.3093A>C (p.Glu1031Asp)
Xg.32464641delCA2695231983DMDn.3429del
c.3222del (p.Glu1074AspfsTer11)
c.3210del (p.Glu1070AspfsTer11)
c.94-99441del (n.94-99441del)
c.94-99930del (n.94-99930del)
n.336-247577del
c.3198del (p.Glu1066AspfsTer11)
c.2853del (p.Glu951AspfsTer11)
c.3093del (p.Glu1031AspfsTer11)
Xg.32464641T>ACA412664908DMDn.3428A>T
c.3221A>T (p.Glu1074Val)
c.3209A>T (p.Glu1070Val)
c.94-99442A>T (n.94-99442A>T)
c.94-99931A>T (n.94-99931A>T)
n.336-247578A>T
c.3197A>T (p.Glu1066Val)
c.2852A>T (p.Glu951Val)
c.3092A>T (p.Glu1031Val)
Xg.32464641T>CCA412664910DMDn.3428A>G
c.3221A>G (p.Glu1074Gly)
c.3209A>G (p.Glu1070Gly)
c.94-99442A>G (n.94-99442A>G)
c.94-99931A>G (n.94-99931A>G)
n.336-247578A>G
c.3197A>G (p.Glu1066Gly)
c.2852A>G (p.Glu951Gly)
c.3092A>G (p.Glu1031Gly)
Xg.32464641T>GCA412664912DMDn.3428A>C
c.3221A>C (p.Glu1074Ala)
c.3209A>C (p.Glu1070Ala)
c.94-99442A>C (n.94-99442A>C)
c.94-99931A>C (n.94-99931A>C)
n.336-247578A>C
c.3197A>C (p.Glu1066Ala)
c.2852A>C (p.Glu951Ala)
c.3092A>C (p.Glu1031Ala)
Xg.32464642C>ACA412664914DMDn.3427G>T
c.3220G>T (p.Glu1074Ter)
c.3208G>T (p.Glu1070Ter)
c.94-99443G>T (n.94-99443G>T)
c.94-99932G>T (n.94-99932G>T)
n.336-247579G>T
c.3196G>T (p.Glu1066Ter)
c.2851G>T (p.Glu951Ter)
c.3091G>T (p.Glu1031Ter)
 ClinVar dbSNP gnomAD v4
Xg.32464642C=CA2422815819DMDn.3427G=
c.3220G= (p.Glu1074=)
c.3208G= (p.Glu1070=)
c.94-99443G= (n.94-99443G=)
c.94-99932G= (n.94-99932G=)
n.336-247579G=
c.3196G= (p.Glu1066=)
c.2851G= (p.Glu951=)
c.3091G= (p.Glu1031=)
Xg.32464642C>GCA412664917DMDn.3427G>C
c.3220G>C (p.Glu1074Gln)
c.3208G>C (p.Glu1070Gln)
c.94-99443G>C (n.94-99443G>C)
c.94-99932G>C (n.94-99932G>C)
n.336-247579G>C
c.3196G>C (p.Glu1066Gln)
c.2851G>C (p.Glu951Gln)
c.3091G>C (p.Glu1031Gln)
Xg.32464642C>TCA412664920DMDn.3427G>A
c.3220G>A (p.Glu1074Lys)
c.3208G>A (p.Glu1070Lys)
c.94-99443G>A (n.94-99443G>A)
c.94-99932G>A (n.94-99932G>A)
n.336-247579G>A
c.3196G>A (p.Glu1066Lys)
c.2851G>A (p.Glu951Lys)
c.3091G>A (p.Glu1031Lys)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
Xg.32464643C>ACA412664922DMDn.3426G>T
c.3219G>T (p.Glu1073Asp)
c.3207G>T (p.Glu1069Asp)
c.94-99444G>T (n.94-99444G>T)
c.94-99933G>T (n.94-99933G>T)
n.336-247580G>T
c.3195G>T (p.Glu1065Asp)
c.2850G>T (p.Glu950Asp)
c.3090G>T (p.Glu1030Asp)
Xg.32464643C>GCA412664924DMDn.3426G>C
c.3219G>C (p.Glu1073Asp)
c.3207G>C (p.Glu1069Asp)
c.94-99444G>C (n.94-99444G>C)
c.94-99933G>C (n.94-99933G>C)
n.336-247580G>C
c.3195G>C (p.Glu1065Asp)
c.2850G>C (p.Glu950Asp)
c.3090G>C (p.Glu1030Asp)
Xg.32464643C>TCA515715533DMDn.3426G>A
c.3219G>A (p.Glu1073=)
c.3207G>A (p.Glu1069=)
c.94-99444G>A (n.94-99444G>A)
c.94-99933G>A (n.94-99933G>A)
n.336-247580G>A
c.3195G>A (p.Glu1065=)
c.2850G>A (p.Glu950=)
c.3090G>A (p.Glu1030=)
 gnomAD v4
Xg.32464644T>ACA412664926DMDn.3425A>T
c.3218A>T (p.Glu1073Val)
c.3206A>T (p.Glu1069Val)
c.94-99445A>T (n.94-99445A>T)
c.94-99934A>T (n.94-99934A>T)
n.336-247581A>T
c.3194A>T (p.Glu1065Val)
c.2849A>T (p.Glu950Val)
c.3089A>T (p.Glu1030Val)
 dbSNP
Xg.32464644T>CCA412664928DMDn.3425A>G
c.3218A>G (p.Glu1073Gly)
c.3206A>G (p.Glu1069Gly)
c.94-99445A>G (n.94-99445A>G)
c.94-99934A>G (n.94-99934A>G)
n.336-247581A>G
c.3194A>G (p.Glu1065Gly)
c.2849A>G (p.Glu950Gly)
c.3089A>G (p.Glu1030Gly)
Xg.32464644T>GCA412664930DMDn.3425A>C
c.3218A>C (p.Glu1073Ala)
c.3206A>C (p.Glu1069Ala)
c.94-99445A>C (n.94-99445A>C)
c.94-99934A>C (n.94-99934A>C)
n.336-247581A>C
c.3194A>C (p.Glu1065Ala)
c.2849A>C (p.Glu950Ala)
c.3089A>C (p.Glu1030Ala)
Xg.32464645C>ACA412664932DMDn.3424G>T
c.3217G>T (p.Glu1073Ter)
c.3205G>T (p.Glu1069Ter)
c.94-99446G>T (n.94-99446G>T)
c.94-99935G>T (n.94-99935G>T)
n.336-247582G>T
c.3193G>T (p.Glu1065Ter)
c.2848G>T (p.Glu950Ter)
c.3088G>T (p.Glu1030Ter)
 ClinVar dbSNP
Xg.32464645C=CA2422815820DMDn.3424G=
c.3217G= (p.Glu1073=)
c.3205G= (p.Glu1069=)
c.94-99446G= (n.94-99446G=)
c.94-99935G= (n.94-99935G=)
n.336-247582G=
c.3193G= (p.Glu1065=)
c.2848G= (p.Glu950=)
c.3088G= (p.Glu1030=)
Xg.32464645C>GCA412664934DMDn.3424G>C
c.3217G>C (p.Glu1073Gln)
c.3205G>C (p.Glu1069Gln)
c.94-99446G>C (n.94-99446G>C)
c.94-99935G>C (n.94-99935G>C)
n.336-247582G>C
c.3193G>C (p.Glu1065Gln)
c.2848G>C (p.Glu950Gln)
c.3088G>C (p.Glu1030Gln)
Xg.32464645C>TCA222373DMDn.3424G>A
c.3217G>A (p.Glu1073Lys)
c.3205G>A (p.Glu1069Lys)
c.94-99446G>A (n.94-99446G>A)
c.94-99935G>A (n.94-99935G>A)
n.336-247582G>A
c.3193G>A (p.Glu1065Lys)
c.2848G>A (p.Glu950Lys)
c.3088G>A (p.Glu1030Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464646C>ACA412664938DMDn.3423G>T
c.3216G>T (p.Lys1072Asn)
c.3204G>T (p.Lys1068Asn)
c.94-99447G>T (n.94-99447G>T)
c.94-99936G>T (n.94-99936G>T)
n.336-247583G>T
c.3192G>T (p.Lys1064Asn)
c.2847G>T (p.Lys949Asn)
c.3087G>T (p.Lys1029Asn)
Xg.32464646C>GCA412664939DMDn.3423G>C
c.3216G>C (p.Lys1072Asn)
c.3204G>C (p.Lys1068Asn)
c.94-99447G>C (n.94-99447G>C)
c.94-99936G>C (n.94-99936G>C)
n.336-247583G>C
c.3192G>C (p.Lys1064Asn)
c.2847G>C (p.Lys949Asn)
c.3087G>C (p.Lys1029Asn)
 gnomAD v4
Xg.32464646C>TCA515715534DMDn.3423G>A
c.3216G>A (p.Lys1072=)
c.3204G>A (p.Lys1068=)
c.94-99447G>A (n.94-99447G>A)
c.94-99936G>A (n.94-99936G>A)
n.336-247583G>A
c.3192G>A (p.Lys1064=)
c.2847G>A (p.Lys949=)
c.3087G>A (p.Lys1029=)
Xg.32464647_32464649delCA2580100727DMDn.3421_3423del
c.3214_3216del (p.Lys1072del)
c.3202_3204del (p.Lys1068del)
c.94-99449_94-99447del (n.94-99449_94-99447del)
c.94-99938_94-99936del (n.94-99938_94-99936del)
n.336-247585_336-247583del
c.3190_3192del (p.Lys1064del)
c.2845_2847del (p.Lys949del)
c.3085_3087del (p.Lys1029del)
 ClinVar
Xg.32464647T>ACA412664941DMDn.3422A>T
c.3215A>T (p.Lys1072Met)
c.3203A>T (p.Lys1068Met)
c.94-99448A>T (n.94-99448A>T)
c.94-99937A>T (n.94-99937A>T)
n.336-247584A>T
c.3191A>T (p.Lys1064Met)
c.2846A>T (p.Lys949Met)
c.3086A>T (p.Lys1029Met)
Xg.32464647T>CCA412664944DMDn.3422A>G
c.3215A>G (p.Lys1072Arg)
c.3203A>G (p.Lys1068Arg)
c.94-99448A>G (n.94-99448A>G)
c.94-99937A>G (n.94-99937A>G)
n.336-247584A>G
c.3191A>G (p.Lys1064Arg)
c.2846A>G (p.Lys949Arg)
c.3086A>G (p.Lys1029Arg)
 COSMIC COSMIC COSMIC
Xg.32464647T>GCA412664947DMDn.3422A>C
c.3215A>C (p.Lys1072Thr)
c.3203A>C (p.Lys1068Thr)
c.94-99448A>C (n.94-99448A>C)
c.94-99937A>C (n.94-99937A>C)
n.336-247584A>C
c.3191A>C (p.Lys1064Thr)
c.2846A>C (p.Lys949Thr)
c.3086A>C (p.Lys1029Thr)
Xg.32464648T>ACA412664949DMDn.3421A>T
c.3214A>T (p.Lys1072Ter)
c.3202A>T (p.Lys1068Ter)
c.94-99449A>T (n.94-99449A>T)
c.94-99938A>T (n.94-99938A>T)
n.336-247585A>T
c.3190A>T (p.Lys1064Ter)
c.2845A>T (p.Lys949Ter)
c.3085A>T (p.Lys1029Ter)
Xg.32464648T>CCA412664951DMDn.3421A>G
c.3214A>G (p.Lys1072Glu)
c.3202A>G (p.Lys1068Glu)
c.94-99449A>G (n.94-99449A>G)
c.94-99938A>G (n.94-99938A>G)
n.336-247585A>G
c.3190A>G (p.Lys1064Glu)
c.2845A>G (p.Lys949Glu)
c.3085A>G (p.Lys1029Glu)
Xg.32464648T>GCA412664952DMDn.3421A>C
c.3214A>C (p.Lys1072Gln)
c.3202A>C (p.Lys1068Gln)
c.94-99449A>C (n.94-99449A>C)
c.94-99938A>C (n.94-99938A>C)
n.336-247585A>C
c.3190A>C (p.Lys1064Gln)
c.2845A>C (p.Lys949Gln)
c.3085A>C (p.Lys1029Gln)
Xg.32464649delCA2573158961DMDn.3420del
c.3213del (p.Lys1072ArgfsTer13)
c.3201del (p.Lys1068ArgfsTer13)
c.94-99450del (n.94-99450del)
c.94-99939del (n.94-99939del)
n.336-247586del
c.3189del (p.Lys1064ArgfsTer13)
c.2844del (p.Lys949ArgfsTer13)
c.3084del (p.Lys1029ArgfsTer13)
 ClinVar dbSNP
Xg.32464649C>ACA515715537DMDn.3420G>T
c.3213G>T (p.Leu1071=)
c.3201G>T (p.Leu1067=)
c.94-99450G>T (n.94-99450G>T)
c.94-99939G>T (n.94-99939G>T)
n.336-247586G>T
c.3189G>T (p.Leu1063=)
c.2844G>T (p.Leu948=)
c.3084G>T (p.Leu1028=)
Xg.32464649C>GCA515715536DMDn.3420G>C
c.3213G>C (p.Leu1071=)
c.3201G>C (p.Leu1067=)
c.94-99450G>C (n.94-99450G>C)
c.94-99939G>C (n.94-99939G>C)
n.336-247586G>C
c.3189G>C (p.Leu1063=)
c.2844G>C (p.Leu948=)
c.3084G>C (p.Leu1028=)
Xg.32464649C>TCA515715535DMDn.3420G>A
c.3213G>A (p.Leu1071=)
c.3201G>A (p.Leu1067=)
c.94-99450G>A (n.94-99450G>A)
c.94-99939G>A (n.94-99939G>A)
n.336-247586G>A
c.3189G>A (p.Leu1063=)
c.2844G>A (p.Leu948=)
c.3084G>A (p.Leu1028=)
Xg.32464650A>CCA412664953DMDn.3419T>G
c.3212T>G (p.Leu1071Arg)
c.3200T>G (p.Leu1067Arg)
c.94-99451T>G (n.94-99451T>G)
c.94-99940T>G (n.94-99940T>G)
n.336-247587T>G
c.3188T>G (p.Leu1063Arg)
c.2843T>G (p.Leu948Arg)
c.3083T>G (p.Leu1028Arg)
Xg.32464650A>GCA412664955DMDn.3419T>C
c.3212T>C (p.Leu1071Pro)
c.3200T>C (p.Leu1067Pro)
c.94-99451T>C (n.94-99451T>C)
c.94-99940T>C (n.94-99940T>C)
n.336-247587T>C
c.3188T>C (p.Leu1063Pro)
c.2843T>C (p.Leu948Pro)
c.3083T>C (p.Leu1028Pro)
Xg.32464650A>TCA412664957DMDn.3419T>A
c.3212T>A (p.Leu1071Gln)
c.3200T>A (p.Leu1067Gln)
c.94-99451T>A (n.94-99451T>A)
c.94-99940T>A (n.94-99940T>A)
n.336-247587T>A
c.3188T>A (p.Leu1063Gln)
c.2843T>A (p.Leu948Gln)
c.3083T>A (p.Leu1028Gln)
Xg.32464651G>ACA515715538DMDn.3418C>T
c.3211C>T (p.Leu1071=)
c.3199C>T (p.Leu1067=)
c.94-99452C>T (n.94-99452C>T)
c.94-99941C>T (n.94-99941C>T)
n.336-247588C>T
c.3187C>T (p.Leu1063=)
c.2842C>T (p.Leu948=)
c.3082C>T (p.Leu1028=)
 ClinVar
Xg.32464651G>CCA412664959DMDn.3418C>G
c.3211C>G (p.Leu1071Val)
c.3199C>G (p.Leu1067Val)
c.94-99452C>G (n.94-99452C>G)
c.94-99941C>G (n.94-99941C>G)
n.336-247588C>G
c.3187C>G (p.Leu1063Val)
c.2842C>G (p.Leu948Val)
c.3082C>G (p.Leu1028Val)
Xg.32464651G>TCA412664961DMDn.3418C>A
c.3211C>A (p.Leu1071Met)
c.3199C>A (p.Leu1067Met)
c.94-99452C>A (n.94-99452C>A)
c.94-99941C>A (n.94-99941C>A)
n.336-247588C>A
c.3187C>A (p.Leu1063Met)
c.2842C>A (p.Leu948Met)
c.3082C>A (p.Leu1028Met)
 COSMIC COSMIC COSMIC
Xg.32464652A=CA2422815821DMDn.3417T=
c.3210T= (p.Phe1070=)
c.3198T= (p.Phe1066=)
c.94-99453T= (n.94-99453T=)
c.94-99942T= (n.94-99942T=)
n.336-247589T=
c.3186T= (p.Phe1062=)
c.2841T= (p.Phe947=)
c.3081T= (p.Phe1027=)
Xg.32464652A>CCA412664964DMDn.3417T>G
c.3210T>G (p.Phe1070Leu)
c.3198T>G (p.Phe1066Leu)
c.94-99453T>G (n.94-99453T>G)
c.94-99942T>G (n.94-99942T>G)
n.336-247589T>G
c.3186T>G (p.Phe1062Leu)
c.2841T>G (p.Phe947Leu)
c.3081T>G (p.Phe1027Leu)
Xg.32464652A>GCA10379328DMDn.3417T>C
c.3210T>C (p.Phe1070=)
c.3198T>C (p.Phe1066=)
c.94-99453T>C (n.94-99453T>C)
c.94-99942T>C (n.94-99942T>C)
n.336-247589T>C
c.3186T>C (p.Phe1062=)
c.2841T>C (p.Phe947=)
c.3081T>C (p.Phe1027=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32464652A>TCA412664962DMDn.3417T>A
c.3210T>A (p.Phe1070Leu)
c.3198T>A (p.Phe1066Leu)
c.94-99453T>A (n.94-99453T>A)
c.94-99942T>A (n.94-99942T>A)
n.336-247589T>A
c.3186T>A (p.Phe1062Leu)
c.2841T>A (p.Phe947Leu)
c.3081T>A (p.Phe1027Leu)
Xg.32464656delCA2573055283DMDn.3417del
c.3210del (p.Leu1071Ter)
c.3198del (p.Leu1067Ter)
c.94-99453del (n.94-99453del)
c.94-99942del (n.94-99942del)
n.336-247589del
c.3186del (p.Leu1063Ter)
c.2841del (p.Leu948Ter)
c.3081del (p.Leu1028Ter)
 ClinVar dbSNP
Xg.32464653A>CCA412664968DMDn.3416T>G
c.3209T>G (p.Phe1070Cys)
c.3197T>G (p.Phe1066Cys)
c.94-99454T>G (n.94-99454T>G)
c.94-99943T>G (n.94-99943T>G)
n.336-247590T>G
c.3185T>G (p.Phe1062Cys)
c.2840T>G (p.Phe947Cys)
c.3080T>G (p.Phe1027Cys)
Xg.32464653A>GCA412664974DMDn.3416T>C
c.3209T>C (p.Phe1070Ser)
c.3197T>C (p.Phe1066Ser)
c.94-99454T>C (n.94-99454T>C)
c.94-99943T>C (n.94-99943T>C)
n.336-247590T>C
c.3185T>C (p.Phe1062Ser)
c.2840T>C (p.Phe947Ser)
c.3080T>C (p.Phe1027Ser)
Xg.32464653A>TCA412664970DMDn.3416T>A
c.3209T>A (p.Phe1070Tyr)
c.3197T>A (p.Phe1066Tyr)
c.94-99454T>A (n.94-99454T>A)
c.94-99943T>A (n.94-99943T>A)
n.336-247590T>A
c.3185T>A (p.Phe1062Tyr)
c.2840T>A (p.Phe947Tyr)
c.3080T>A (p.Phe1027Tyr)
Xg.32464653_32464669dupCA2739273371DMDn.3400_3416dup
c.3193_3209dup (p.Phe1070LeufsTer8)
c.3181_3197dup (p.Phe1066LeufsTer8)
c.94-99470_94-99454dup (n.94-99470_94-99454dup)
c.94-99959_94-99943dup (n.94-99959_94-99943dup)
n.336-247606_336-247590dup
c.3169_3185dup (p.Phe1062LeufsTer8)
c.2824_2840dup (p.Phe947LeufsTer8)
c.3064_3080dup (p.Phe1027LeufsTer8)
 ClinVar
Xg.32464654A>CCA412664976DMDn.3415T>G
c.3208T>G (p.Phe1070Val)
c.3196T>G (p.Phe1066Val)
c.94-99455T>G (n.94-99455T>G)
c.94-99944T>G (n.94-99944T>G)
n.336-247591T>G
c.3184T>G (p.Phe1062Val)
c.2839T>G (p.Phe947Val)
c.3079T>G (p.Phe1027Val)
Xg.32464654A>GCA412664978DMDn.3415T>C
c.3208T>C (p.Phe1070Leu)
c.3196T>C (p.Phe1066Leu)
c.94-99455T>C (n.94-99455T>C)
c.94-99944T>C (n.94-99944T>C)
n.336-247591T>C
c.3184T>C (p.Phe1062Leu)
c.2839T>C (p.Phe947Leu)
c.3079T>C (p.Phe1027Leu)
Xg.32464654A>TCA412664980DMDn.3415T>A
c.3208T>A (p.Phe1070Ile)
c.3196T>A (p.Phe1066Ile)
c.94-99455T>A (n.94-99455T>A)
c.94-99944T>A (n.94-99944T>A)
n.336-247591T>A
c.3184T>A (p.Phe1062Ile)
c.2839T>A (p.Phe947Ile)
c.3079T>A (p.Phe1027Ile)
Xg.32464655A>CCA515715539DMDn.3414T>G
c.3207T>G (p.Val1069=)
c.3195T>G (p.Val1065=)
c.94-99456T>G (n.94-99456T>G)
c.94-99945T>G (n.94-99945T>G)
n.336-247592T>G
c.3183T>G (p.Val1061=)
c.2838T>G (p.Val946=)
c.3078T>G (p.Val1026=)
Xg.32464655A>GCA515715540DMDn.3414T>C
c.3207T>C (p.Val1069=)
c.3195T>C (p.Val1065=)
c.94-99456T>C (n.94-99456T>C)
c.94-99945T>C (n.94-99945T>C)
n.336-247592T>C
c.3183T>C (p.Val1061=)
c.2838T>C (p.Val946=)
c.3078T>C (p.Val1026=)
Xg.32464655A>TCA515715541DMDn.3414T>A
c.3207T>A (p.Val1069=)
c.3195T>A (p.Val1065=)
c.94-99456T>A (n.94-99456T>A)
c.94-99945T>A (n.94-99945T>A)
n.336-247592T>A
c.3183T>A (p.Val1061=)
c.2838T>A (p.Val946=)
c.3078T>A (p.Val1026=)
Xg.32464656A>CCA412664981DMDn.3413T>G
c.3206T>G (p.Val1069Gly)
c.3194T>G (p.Val1065Gly)
c.94-99457T>G (n.94-99457T>G)
c.94-99946T>G (n.94-99946T>G)
n.336-247593T>G
c.3182T>G (p.Val1061Gly)
c.2837T>G (p.Val946Gly)
c.3077T>G (p.Val1026Gly)
Xg.32464656A>GCA412664982DMDn.3413T>C
c.3206T>C (p.Val1069Ala)
c.3194T>C (p.Val1065Ala)
c.94-99457T>C (n.94-99457T>C)
c.94-99946T>C (n.94-99946T>C)
n.336-247593T>C
c.3182T>C (p.Val1061Ala)
c.2837T>C (p.Val946Ala)
c.3077T>C (p.Val1026Ala)
 gnomAD v4
Xg.32464656A>TCA412664984DMDn.3413T>A
c.3206T>A (p.Val1069Asp)
c.3194T>A (p.Val1065Asp)
c.94-99457T>A (n.94-99457T>A)
c.94-99946T>A (n.94-99946T>A)
n.336-247593T>A
c.3182T>A (p.Val1061Asp)
c.2837T>A (p.Val946Asp)
c.3077T>A (p.Val1026Asp)
Xg.32464657delCA2695231984DMDn.3412del
c.3205del (p.Val1069PhefsTer3)
c.3193del (p.Val1065PhefsTer3)
c.94-99458del (n.94-99458del)
c.94-99947del (n.94-99947del)
n.336-247594del
c.3181del (p.Val1061PhefsTer3)
c.2836del (p.Val946PhefsTer3)
c.3076del (p.Val1026PhefsTer3)
Xg.32464657C>ACA328002443DMDn.3412G>T
c.3205G>T (p.Val1069Phe)
c.3193G>T (p.Val1065Phe)
c.94-99458G>T (n.94-99458G>T)
c.94-99947G>T (n.94-99947G>T)
n.336-247594G>T
c.3181G>T (p.Val1061Phe)
c.2836G>T (p.Val946Phe)
c.3076G>T (p.Val1026Phe)
 dbSNP
Xg.32464657C=CA2422815822DMDn.3412G=
c.3205G= (p.Val1069=)
c.3193G= (p.Val1065=)
c.94-99458G= (n.94-99458G=)
c.94-99947G= (n.94-99947G=)
n.336-247594G=
c.3181G= (p.Val1061=)
c.2836G= (p.Val946=)
c.3076G= (p.Val1026=)
Xg.32464657C>GCA412664990DMDn.3412G>C
c.3205G>C (p.Val1069Leu)
c.3193G>C (p.Val1065Leu)
c.94-99458G>C (n.94-99458G>C)
c.94-99947G>C (n.94-99947G>C)
n.336-247594G>C
c.3181G>C (p.Val1061Leu)
c.2836G>C (p.Val946Leu)
c.3076G>C (p.Val1026Leu)
Xg.32464657C>TCA412664992DMDn.3412G>A
c.3205G>A (p.Val1069Ile)
c.3193G>A (p.Val1065Ile)
c.94-99458G>A (n.94-99458G>A)
c.94-99947G>A (n.94-99947G>A)
n.336-247594G>A
c.3181G>A (p.Val1061Ile)
c.2836G>A (p.Val946Ile)
c.3076G>A (p.Val1026Ile)
 gnomAD v4
Xg.32464658A>CCA412664994DMDn.3411T>G
c.3204T>G (p.Asp1068Glu)
c.3192T>G (p.Asp1064Glu)
c.94-99459T>G (n.94-99459T>G)
c.94-99948T>G (n.94-99948T>G)
n.336-247595T>G
c.3180T>G (p.Asp1060Glu)
c.2835T>G (p.Asp945Glu)
c.3075T>G (p.Asp1025Glu)
Xg.32464658A>GCA515715542DMDn.3411T>C
c.3204T>C (p.Asp1068=)
c.3192T>C (p.Asp1064=)
c.94-99459T>C (n.94-99459T>C)
c.94-99948T>C (n.94-99948T>C)
n.336-247595T>C
c.3180T>C (p.Asp1060=)
c.2835T>C (p.Asp945=)
c.3075T>C (p.Asp1025=)
Xg.32464658A>TCA412664996DMDn.3411T>A
c.3204T>A (p.Asp1068Glu)
c.3192T>A (p.Asp1064Glu)
c.94-99459T>A (n.94-99459T>A)
c.94-99948T>A (n.94-99948T>A)
n.336-247595T>A
c.3180T>A (p.Asp1060Glu)
c.2835T>A (p.Asp945Glu)
c.3075T>A (p.Asp1025Glu)
Xg.32464658_32464659insACCAAACACACCCAACCA2820325793DMDn.3410_3411insGTTGGGTGTGTTTGGT
c.3203_3204insGTTGGGTGTGTTTGGT (p.Asp1068GlufsTer35)
c.3191_3192insGTTGGGTGTGTTTGGT (p.Asp1064GlufsTer35)
c.94-99460_94-99459insGTTGGGTGTGTTTGGT (n.94-99460_94-99459insGTTGGGTGTGTTTGGT)
c.94-99949_94-99948insGTTGGGTGTGTTTGGT (n.94-99949_94-99948insGTTGGGTGTGTTTGGT)
n.336-247596_336-247595insGTTGGGTGTGTTTGGT
c.3179_3180insGTTGGGTGTGTTTGGT (p.Asp1060GlufsTer35)
c.2834_2835insGTTGGGTGTGTTTGGT (p.Asp945GlufsTer35)
c.3074_3075insGTTGGGTGTGTTTGGT (p.Asp1025GlufsTer35)
Xg.32464659T>ACA412665016DMDn.3410A>T
c.3203A>T (p.Asp1068Val)
c.3191A>T (p.Asp1064Val)
c.94-99460A>T (n.94-99460A>T)
c.94-99949A>T (n.94-99949A>T)
n.336-247596A>T
c.3179A>T (p.Asp1060Val)
c.2834A>T (p.Asp945Val)
c.3074A>T (p.Asp1025Val)
Xg.32464659T>CCA412664999DMDn.3410A>G
c.3203A>G (p.Asp1068Gly)
c.3191A>G (p.Asp1064Gly)
c.94-99460A>G (n.94-99460A>G)
c.94-99949A>G (n.94-99949A>G)
n.336-247596A>G
c.3179A>G (p.Asp1060Gly)
c.2834A>G (p.Asp945Gly)
c.3074A>G (p.Asp1025Gly)
Xg.32464659T>GCA412665009DMDn.3410A>C
c.3203A>C (p.Asp1068Ala)
c.3191A>C (p.Asp1064Ala)
c.94-99460A>C (n.94-99460A>C)
c.94-99949A>C (n.94-99949A>C)
n.336-247596A>C
c.3179A>C (p.Asp1060Ala)
c.2834A>C (p.Asp945Ala)
c.3074A>C (p.Asp1025Ala)
Xg.32464660C>ACA412665018DMDn.3409G>T
c.3202G>T (p.Asp1068Tyr)
c.3190G>T (p.Asp1064Tyr)
c.94-99461G>T (n.94-99461G>T)
c.94-99950G>T (n.94-99950G>T)
n.336-247597G>T
c.3178G>T (p.Asp1060Tyr)
c.2833G>T (p.Asp945Tyr)
c.3073G>T (p.Asp1025Tyr)
Xg.32464660C=CA2422815823DMDn.3409G=
c.3202G= (p.Asp1068=)
c.3190G= (p.Asp1064=)
c.94-99461G= (n.94-99461G=)
c.94-99950G= (n.94-99950G=)
n.336-247597G=
c.3178G= (p.Asp1060=)
c.2833G= (p.Asp945=)
c.3073G= (p.Asp1025=)
Xg.32464660C>GCA412665020DMDn.3409G>C
c.3202G>C (p.Asp1068His)
c.3190G>C (p.Asp1064His)
c.94-99461G>C (n.94-99461G>C)
c.94-99950G>C (n.94-99950G>C)
n.336-247597G>C
c.3178G>C (p.Asp1060His)
c.2833G>C (p.Asp945His)
c.3073G>C (p.Asp1025His)
 gnomAD v4
Xg.32464660C>TCA412665022DMDn.3409G>A
c.3202G>A (p.Asp1068Asn)
c.3190G>A (p.Asp1064Asn)
c.94-99461G>A (n.94-99461G>A)
c.94-99950G>A (n.94-99950G>A)
n.336-247597G>A
c.3178G>A (p.Asp1060Asn)
c.2833G>A (p.Asp945Asn)
c.3073G>A (p.Asp1025Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.32464661A>CCA515715543DMDn.3408T>G
c.3201T>G (p.Val1067=)
c.3189T>G (p.Val1063=)
c.94-99462T>G (n.94-99462T>G)
c.94-99951T>G (n.94-99951T>G)
n.336-247598T>G
c.3177T>G (p.Val1059=)
c.2832T>G (p.Val944=)
c.3072T>G (p.Val1024=)
Xg.32464661A>GCA515715544DMDn.3408T>C
c.3201T>C (p.Val1067=)
c.3189T>C (p.Val1063=)
c.94-99462T>C (n.94-99462T>C)
c.94-99951T>C (n.94-99951T>C)
n.336-247598T>C
c.3177T>C (p.Val1059=)
c.2832T>C (p.Val944=)
c.3072T>C (p.Val1024=)
Xg.32464661A>TCA515715545DMDn.3408T>A
c.3201T>A (p.Val1067=)
c.3189T>A (p.Val1063=)
c.94-99462T>A (n.94-99462T>A)
c.94-99951T>A (n.94-99951T>A)
n.336-247598T>A
c.3177T>A (p.Val1059=)
c.2832T>A (p.Val944=)
c.3072T>A (p.Val1024=)
Xg.32464662dupCA2695231985DMDn.3408dup
c.3201dup (p.Asp1068Ter)
c.3189dup (p.Asp1064Ter)
c.94-99462dup (n.94-99462dup)
c.94-99951dup (n.94-99951dup)
n.336-247598dup
c.3177dup (p.Asp1060Ter)
c.2832dup (p.Asp945Ter)
c.3072dup (p.Asp1025Ter)
Xg.32464662A=CA2422815824DMDn.3407T=
c.3200T= (p.Val1067=)
c.3188T= (p.Val1063=)
c.94-99463T= (n.94-99463T=)
c.94-99952T= (n.94-99952T=)
n.336-247599T=
c.3176T= (p.Val1059=)
c.2831T= (p.Val944=)
c.3071T= (p.Val1024=)
Xg.32464662A>CCA412665030DMDn.3407T>G
c.3200T>G (p.Val1067Gly)
c.3188T>G (p.Val1063Gly)
c.94-99463T>G (n.94-99463T>G)
c.94-99952T>G (n.94-99952T>G)
n.336-247599T>G
c.3176T>G (p.Val1059Gly)
c.2831T>G (p.Val944Gly)
c.3071T>G (p.Val1024Gly)
Xg.32464662A>GCA412665032DMDn.3407T>C
c.3200T>C (p.Val1067Ala)
c.3188T>C (p.Val1063Ala)
c.94-99463T>C (n.94-99463T>C)
c.94-99952T>C (n.94-99952T>C)
n.336-247599T>C
c.3176T>C (p.Val1059Ala)
c.2831T>C (p.Val944Ala)
c.3071T>C (p.Val1024Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464662A>TCA412665034DMDn.3407T>A
c.3200T>A (p.Val1067Asp)
c.3188T>A (p.Val1063Asp)
c.94-99463T>A (n.94-99463T>A)
c.94-99952T>A (n.94-99952T>A)
n.336-247599T>A
c.3176T>A (p.Val1059Asp)
c.2831T>A (p.Val944Asp)
c.3071T>A (p.Val1024Asp)
Xg.32464663_32464675delCA2695231986DMDn.3395_3407del
c.3188_3200del (p.Trp1063LeufsTer5)
c.3176_3188del (p.Trp1059LeufsTer5)
c.94-99475_94-99463del (n.94-99475_94-99463del)
c.94-99964_94-99952del (n.94-99964_94-99952del)
n.336-247611_336-247599del
c.3164_3176del (p.Trp1055LeufsTer5)
c.2819_2831del (p.Trp940LeufsTer5)
c.3059_3071del (p.Trp1020LeufsTer5)
Xg.32464663C>ACA412665036DMDn.3406G>T
c.3199G>T (p.Val1067Phe)
c.3187G>T (p.Val1063Phe)
c.94-99464G>T (n.94-99464G>T)
c.94-99953G>T (n.94-99953G>T)
n.336-247600G>T
c.3175G>T (p.Val1059Phe)
c.2830G>T (p.Val944Phe)
c.3070G>T (p.Val1024Phe)
Xg.32464663C>GCA412665037DMDn.3406G>C
c.3199G>C (p.Val1067Leu)
c.3187G>C (p.Val1063Leu)
c.94-99464G>C (n.94-99464G>C)
c.94-99953G>C (n.94-99953G>C)
n.336-247600G>C
c.3175G>C (p.Val1059Leu)
c.2830G>C (p.Val944Leu)
c.3070G>C (p.Val1024Leu)
Xg.32464663C>TCA412665038DMDn.3406G>A
c.3199G>A (p.Val1067Ile)
c.3187G>A (p.Val1063Ile)
c.94-99464G>A (n.94-99464G>A)
c.94-99953G>A (n.94-99953G>A)
n.336-247600G>A
c.3175G>A (p.Val1059Ile)
c.2830G>A (p.Val944Ile)
c.3070G>A (p.Val1024Ile)
Xg.32464669_32464684delCA2695231987DMDn.3391_3406del
c.3184_3199del (p.Lys1062LeufsTer5)
c.3172_3187del (p.Lys1058LeufsTer5)
c.94-99479_94-99464del (n.94-99479_94-99464del)
c.94-99968_94-99953del (n.94-99968_94-99953del)
n.336-247615_336-247600del
c.3160_3175del (p.Lys1054LeufsTer5)
c.2815_2830del (p.Lys939LeufsTer5)
c.3055_3070del (p.Lys1019LeufsTer5)
Xg.32464664T>ACA412665040DMDn.3405A>T
c.3198A>T (p.Glu1066Asp)
c.3186A>T (p.Glu1062Asp)
c.94-99465A>T (n.94-99465A>T)
c.94-99954A>T (n.94-99954A>T)
n.336-247601A>T
c.3174A>T (p.Glu1058Asp)
c.2829A>T (p.Glu943Asp)
c.3069A>T (p.Glu1023Asp)
 ClinVar
Xg.32464664T>CCA515715546DMDn.3405A>G
c.3198A>G (p.Glu1066=)
c.3186A>G (p.Glu1062=)
c.94-99465A>G (n.94-99465A>G)
c.94-99954A>G (n.94-99954A>G)
n.336-247601A>G
c.3174A>G (p.Glu1058=)
c.2829A>G (p.Glu943=)
c.3069A>G (p.Glu1023=)
Xg.32464664T>GCA412665042DMDn.3405A>C
c.3198A>C (p.Glu1066Asp)
c.3186A>C (p.Glu1062Asp)
c.94-99465A>C (n.94-99465A>C)
c.94-99954A>C (n.94-99954A>C)
n.336-247601A>C
c.3174A>C (p.Glu1058Asp)
c.2829A>C (p.Glu943Asp)
c.3069A>C (p.Glu1023Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32464664T=CA2422815825DMDn.3405A=
c.3198A= (p.Glu1066=)
c.3186A= (p.Glu1062=)
c.94-99465A= (n.94-99465A=)
c.94-99954A= (n.94-99954A=)
n.336-247601A=
c.3174A= (p.Glu1058=)
c.2829A= (p.Glu943=)
c.3069A= (p.Glu1023=)
Xg.32464665T>ACA412665045DMDn.3404A>T
c.3197A>T (p.Glu1066Val)
c.3185A>T (p.Glu1062Val)
c.94-99466A>T (n.94-99466A>T)
c.94-99955A>T (n.94-99955A>T)
n.336-247602A>T
c.3173A>T (p.Glu1058Val)
c.2828A>T (p.Glu943Val)
c.3068A>T (p.Glu1023Val)
Xg.32464665T>CCA412665047DMDn.3404A>G
c.3197A>G (p.Glu1066Gly)
c.3185A>G (p.Glu1062Gly)
c.94-99466A>G (n.94-99466A>G)
c.94-99955A>G (n.94-99955A>G)
n.336-247602A>G
c.3173A>G (p.Glu1058Gly)
c.2828A>G (p.Glu943Gly)
c.3068A>G (p.Glu1023Gly)
Xg.32464665T>GCA412665043DMDn.3404A>C
c.3197A>C (p.Glu1066Ala)
c.3185A>C (p.Glu1062Ala)
c.94-99466A>C (n.94-99466A>C)
c.94-99955A>C (n.94-99955A>C)
n.336-247602A>C
c.3173A>C (p.Glu1058Ala)
c.2828A>C (p.Glu943Ala)
c.3068A>C (p.Glu1023Ala)
Xg.32464666C>ACA412665049DMDn.3403G>T
c.3196G>T (p.Glu1066Ter)
c.3184G>T (p.Glu1062Ter)
c.94-99467G>T (n.94-99467G>T)
c.94-99956G>T (n.94-99956G>T)
n.336-247603G>T
c.3172G>T (p.Glu1058Ter)
c.2827G>T (p.Glu943Ter)
c.3067G>T (p.Glu1023Ter)
 dbSNP
Xg.32464666C>GCA412665050DMDn.3403G>C
c.3196G>C (p.Glu1066Gln)
c.3184G>C (p.Glu1062Gln)
c.94-99467G>C (n.94-99467G>C)
c.94-99956G>C (n.94-99956G>C)
n.336-247603G>C
c.3172G>C (p.Glu1058Gln)
c.2827G>C (p.Glu943Gln)
c.3067G>C (p.Glu1023Gln)
Xg.32464666C>TCA412665053DMDn.3403G>A
c.3196G>A (p.Glu1066Lys)
c.3184G>A (p.Glu1062Lys)
c.94-99467G>A (n.94-99467G>A)
c.94-99956G>A (n.94-99956G>A)
n.336-247603G>A
c.3172G>A (p.Glu1058Lys)
c.2827G>A (p.Glu943Lys)
c.3067G>A (p.Glu1023Lys)
 ClinVar
Xg.32464667A=CA2422815826DMDn.3402T=
c.3195T= (p.Ala1065=)
c.3183T= (p.Ala1061=)
c.94-99468T= (n.94-99468T=)
c.94-99957T= (n.94-99957T=)
n.336-247604T=
c.3171T= (p.Ala1057=)
c.2826T= (p.Ala942=)
c.3066T= (p.Ala1022=)
Xg.32464667A>CCA515715550DMDn.3402T>G
c.3195T>G (p.Ala1065=)
c.3183T>G (p.Ala1061=)
c.94-99468T>G (n.94-99468T>G)
c.94-99957T>G (n.94-99957T>G)
n.336-247604T>G
c.3171T>G (p.Ala1057=)
c.2826T>G (p.Ala942=)
c.3066T>G (p.Ala1022=)
Xg.32464667A>GCA515715551DMDn.3402T>C
c.3195T>C (p.Ala1065=)
c.3183T>C (p.Ala1061=)
c.94-99468T>C (n.94-99468T>C)
c.94-99957T>C (n.94-99957T>C)
n.336-247604T>C
c.3171T>C (p.Ala1057=)
c.2826T>C (p.Ala942=)
c.3066T>C (p.Ala1022=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464667A>TCA515715552DMDn.3402T>A
c.3195T>A (p.Ala1065=)
c.3183T>A (p.Ala1061=)
c.94-99468T>A (n.94-99468T>A)
c.94-99957T>A (n.94-99957T>A)
n.336-247604T>A
c.3171T>A (p.Ala1057=)
c.2826T>A (p.Ala942=)
c.3066T>A (p.Ala1022=)
 ClinVar
Xg.32464668G>ACA412665055DMDn.3401C>T
c.3194C>T (p.Ala1065Val)
c.3182C>T (p.Ala1061Val)
c.94-99469C>T (n.94-99469C>T)
c.94-99958C>T (n.94-99958C>T)
n.336-247605C>T
c.3170C>T (p.Ala1057Val)
c.2825C>T (p.Ala942Val)
c.3065C>T (p.Ala1022Val)
 gnomAD v4
Xg.32464668G>CCA412665057DMDn.3401C>G
c.3194C>G (p.Ala1065Gly)
c.3182C>G (p.Ala1061Gly)
c.94-99469C>G (n.94-99469C>G)
c.94-99958C>G (n.94-99958C>G)
n.336-247605C>G
c.3170C>G (p.Ala1057Gly)
c.2825C>G (p.Ala942Gly)
c.3065C>G (p.Ala1022Gly)
Xg.32464668G>TCA412665059DMDn.3401C>A
c.3194C>A (p.Ala1065Asp)
c.3182C>A (p.Ala1061Asp)
c.94-99469C>A (n.94-99469C>A)
c.94-99958C>A (n.94-99958C>A)
n.336-247605C>A
c.3170C>A (p.Ala1057Asp)
c.2825C>A (p.Ala942Asp)
c.3065C>A (p.Ala1022Asp)
 gnomAD v4
Xg.32464668_32464669delinsGCCA2422815827DMDn.3400_3401delinsGC
c.3193_3194delinsGC (p.Ala1065=)
c.3181_3182delinsGC (p.Ala1061=)
c.94-99470_94-99469delinsGC (n.94-99470_94-99469delinsGC)
c.94-99959_94-99958delinsGC (n.94-99959_94-99958delinsGC)
n.336-247606_336-247605delinsGC
c.3169_3170delinsGC (p.Ala1057=)
c.2824_2825delinsGC (p.Ala942=)
c.3064_3065delinsGC (p.Ala1022=)
Xg.32464669C>ACA412665062DMDn.3400G>T
c.3193G>T (p.Ala1065Ser)
c.3181G>T (p.Ala1061Ser)
c.94-99470G>T (n.94-99470G>T)
c.94-99959G>T (n.94-99959G>T)
n.336-247606G>T
c.3169G>T (p.Ala1057Ser)
c.2824G>T (p.Ala942Ser)
c.3064G>T (p.Ala1022Ser)
Xg.32464669C=CA2422815828DMDn.3400G=
c.3193G= (p.Ala1065=)
c.3181G= (p.Ala1061=)
c.94-99470G= (n.94-99470G=)
c.94-99959G= (n.94-99959G=)
n.336-247606G=
c.3169G= (p.Ala1057=)
c.2824G= (p.Ala942=)
c.3064G= (p.Ala1022=)
Xg.32464669C>GCA10379329DMDn.3400G>C
c.3193G>C (p.Ala1065Pro)
c.3181G>C (p.Ala1061Pro)
c.94-99470G>C (n.94-99470G>C)
c.94-99959G>C (n.94-99959G>C)
n.336-247606G>C
c.3169G>C (p.Ala1057Pro)
c.2824G>C (p.Ala942Pro)
c.3064G>C (p.Ala1022Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464669C>TCA412665065DMDn.3400G>A
c.3193G>A (p.Ala1065Thr)
c.3181G>A (p.Ala1061Thr)
c.94-99470G>A (n.94-99470G>A)
c.94-99959G>A (n.94-99959G>A)
n.336-247606G>A
c.3169G>A (p.Ala1057Thr)
c.2824G>A (p.Ala942Thr)
c.3064G>A (p.Ala1022Thr)
Xg.32464670delCA915950894DMDn.3400del
c.3193del (p.Ala1065LeufsTer7)
c.3181del (p.Ala1061LeufsTer7)
c.94-99470del (n.94-99470del)
c.94-99959del (n.94-99959del)
n.336-247606del
c.3169del (p.Ala1057LeufsTer7)
c.2824del (p.Ala942LeufsTer7)
c.3064del (p.Ala1022LeufsTer7)
 ClinVar dbSNP
Xg.32464670C>ACA412665067DMDn.3399G>T
c.3192G>T (p.Met1064Ile)
c.3180G>T (p.Met1060Ile)
c.94-99471G>T (n.94-99471G>T)
c.94-99960G>T (n.94-99960G>T)
n.336-247607G>T
c.3168G>T (p.Met1056Ile)
c.2823G>T (p.Met941Ile)
c.3063G>T (p.Met1021Ile)
 gnomAD v4
Xg.32464670C=CA2422815829DMDn.3399G=
c.3192G= (p.Met1064=)
c.3180G= (p.Met1060=)
c.94-99471G= (n.94-99471G=)
c.94-99960G= (n.94-99960G=)
n.336-247607G=
c.3168G= (p.Met1056=)
c.2823G= (p.Met941=)
c.3063G= (p.Met1021=)
Xg.32464670C>GCA10379330DMDn.3399G>C
c.3192G>C (p.Met1064Ile)
c.3180G>C (p.Met1060Ile)
c.94-99471G>C (n.94-99471G>C)
c.94-99960G>C (n.94-99960G>C)
n.336-247607G>C
c.3168G>C (p.Met1056Ile)
c.2823G>C (p.Met941Ile)
c.3063G>C (p.Met1021Ile)
 dbSNP ExAC
Xg.32464670C>TCA412665069DMDn.3399G>A
c.3192G>A (p.Met1064Ile)
c.3180G>A (p.Met1060Ile)
c.94-99471G>A (n.94-99471G>A)
c.94-99960G>A (n.94-99960G>A)
n.336-247607G>A
c.3168G>A (p.Met1056Ile)
c.2823G>A (p.Met941Ile)
c.3063G>A (p.Met1021Ile)
Xg.32464671A=CA2422815830DMDn.3398T=
c.3191T= (p.Met1064=)
c.3179T= (p.Met1060=)
c.94-99472T= (n.94-99472T=)
c.94-99961T= (n.94-99961T=)
n.336-247608T=
c.3167T= (p.Met1056=)
c.2822T= (p.Met941=)
c.3062T= (p.Met1021=)
Xg.32464671A>CCA412665076DMDn.3398T>G
c.3191T>G (p.Met1064Arg)
c.3179T>G (p.Met1060Arg)
c.94-99472T>G (n.94-99472T>G)
c.94-99961T>G (n.94-99961T>G)
n.336-247608T>G
c.3167T>G (p.Met1056Arg)
c.2822T>G (p.Met941Arg)
c.3062T>G (p.Met1021Arg)
Xg.32464671A>GCA308388DMDn.3398T>C
c.3191T>C (p.Met1064Thr)
c.3179T>C (p.Met1060Thr)
c.94-99472T>C (n.94-99472T>C)
c.94-99961T>C (n.94-99961T>C)
n.336-247608T>C
c.3167T>C (p.Met1056Thr)
c.2822T>C (p.Met941Thr)
c.3062T>C (p.Met1021Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464671A>TCA412665071DMDn.3398T>A
c.3191T>A (p.Met1064Lys)
c.3179T>A (p.Met1060Lys)
c.94-99472T>A (n.94-99472T>A)
c.94-99961T>A (n.94-99961T>A)
n.336-247608T>A
c.3167T>A (p.Met1056Lys)
c.2822T>A (p.Met941Lys)
c.3062T>A (p.Met1021Lys)
Xg.32464672T>ACA412665080DMDn.3397A>T
c.3190A>T (p.Met1064Leu)
c.3178A>T (p.Met1060Leu)
c.94-99473A>T (n.94-99473A>T)
c.94-99962A>T (n.94-99962A>T)
n.336-247609A>T
c.3166A>T (p.Met1056Leu)
c.2821A>T (p.Met941Leu)
c.3061A>T (p.Met1021Leu)
Xg.32464672T>CCA412665081DMDn.3397A>G
c.3190A>G (p.Met1064Val)
c.3178A>G (p.Met1060Val)
c.94-99473A>G (n.94-99473A>G)
c.94-99962A>G (n.94-99962A>G)
n.336-247609A>G
c.3166A>G (p.Met1056Val)
c.2821A>G (p.Met941Val)
c.3061A>G (p.Met1021Val)
 ClinVar dbSNP
Xg.32464672T>GCA412665083DMDn.3397A>C
c.3190A>C (p.Met1064Leu)
c.3178A>C (p.Met1060Leu)
c.94-99473A>C (n.94-99473A>C)
c.94-99962A>C (n.94-99962A>C)
n.336-247609A>C
c.3166A>C (p.Met1056Leu)
c.2821A>C (p.Met941Leu)
c.3061A>C (p.Met1021Leu)
Xg.32464672T=CA2422815831DMDn.3397A=
c.3190A= (p.Met1064=)
c.3178A= (p.Met1060=)
c.94-99473A= (n.94-99473A=)
c.94-99962A= (n.94-99962A=)
n.336-247609A=
c.3166A= (p.Met1056=)
c.2821A= (p.Met941=)
c.3061A= (p.Met1021=)
Xg.32464673C>ACA412665086DMDn.3396G>T
c.3189G>T (p.Trp1063Cys)
c.3177G>T (p.Trp1059Cys)
c.94-99474G>T (n.94-99474G>T)
c.94-99963G>T (n.94-99963G>T)
n.336-247610G>T
c.3165G>T (p.Trp1055Cys)
c.2820G>T (p.Trp940Cys)
c.3060G>T (p.Trp1020Cys)
Xg.32464673C>GCA412665093DMDn.3396G>C
c.3189G>C (p.Trp1063Cys)
c.3177G>C (p.Trp1059Cys)
c.94-99474G>C (n.94-99474G>C)
c.94-99963G>C (n.94-99963G>C)
n.336-247610G>C
c.3165G>C (p.Trp1055Cys)
c.2820G>C (p.Trp940Cys)
c.3060G>C (p.Trp1020Cys)
Xg.32464673C>TCA412665095DMDn.3396G>A
c.3189G>A (p.Trp1063Ter)
c.3177G>A (p.Trp1059Ter)
c.94-99474G>A (n.94-99474G>A)
c.94-99963G>A (n.94-99963G>A)
n.336-247610G>A
c.3165G>A (p.Trp1055Ter)
c.2820G>A (p.Trp940Ter)
c.3060G>A (p.Trp1020Ter)
 ClinVar dbSNP
Xg.32464674C>ACA412665097DMDn.3395G>T
c.3188G>T (p.Trp1063Leu)
c.3176G>T (p.Trp1059Leu)
c.94-99475G>T (n.94-99475G>T)
c.94-99964G>T (n.94-99964G>T)
n.336-247611G>T
c.3164G>T (p.Trp1055Leu)
c.2819G>T (p.Trp940Leu)
c.3059G>T (p.Trp1020Leu)
 gnomAD v4
Xg.32464674C=CA2422815832DMDn.3395G=
c.3188G= (p.Trp1063=)
c.3176G= (p.Trp1059=)
c.94-99475G= (n.94-99475G=)
c.94-99964G= (n.94-99964G=)
n.336-247611G=
c.3164G= (p.Trp1055=)
c.2819G= (p.Trp940=)
c.3059G= (p.Trp1020=)
Xg.32464674C>GCA412665099DMDn.3395G>C
c.3188G>C (p.Trp1063Ser)
c.3176G>C (p.Trp1059Ser)
c.94-99475G>C (n.94-99475G>C)
c.94-99964G>C (n.94-99964G>C)
n.336-247611G>C
c.3164G>C (p.Trp1055Ser)
c.2819G>C (p.Trp940Ser)
c.3059G>C (p.Trp1020Ser)
Xg.32464674C>TCA341061DMDn.3395G>A
c.3188G>A (p.Trp1063Ter)
c.3176G>A (p.Trp1059Ter)
c.94-99475G>A (n.94-99475G>A)
c.94-99964G>A (n.94-99964G>A)
n.336-247611G>A
c.3164G>A (p.Trp1055Ter)
c.2819G>A (p.Trp940Ter)
c.3059G>A (p.Trp1020Ter)
 ClinVar dbSNP
Xg.32464675A=CA2422815833DMDn.3394T=
c.3187T= (p.Trp1063=)
c.3175T= (p.Trp1059=)
c.94-99476T= (n.94-99476T=)
c.94-99965T= (n.94-99965T=)
n.336-247612T=
c.3163T= (p.Trp1055=)
c.2818T= (p.Trp940=)
c.3058T= (p.Trp1020=)
Xg.32464675A>CCA412665101DMDn.3394T>G
c.3187T>G (p.Trp1063Gly)
c.3175T>G (p.Trp1059Gly)
c.94-99476T>G (n.94-99476T>G)
c.94-99965T>G (n.94-99965T>G)
n.336-247612T>G
c.3163T>G (p.Trp1055Gly)
c.2818T>G (p.Trp940Gly)
c.3058T>G (p.Trp1020Gly)
 dbSNP
Xg.32464675A>GCA412665103DMDn.3394T>C
c.3187T>C (p.Trp1063Arg)
c.3175T>C (p.Trp1059Arg)
c.94-99476T>C (n.94-99476T>C)
c.94-99965T>C (n.94-99965T>C)
n.336-247612T>C
c.3163T>C (p.Trp1055Arg)
c.2818T>C (p.Trp940Arg)
c.3058T>C (p.Trp1020Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.32464675A>TCA412665104DMDn.3394T>A
c.3187T>A (p.Trp1063Arg)
c.3175T>A (p.Trp1059Arg)
c.94-99476T>A (n.94-99476T>A)
c.94-99965T>A (n.94-99965T>A)
n.336-247612T>A
c.3163T>A (p.Trp1055Arg)
c.2818T>A (p.Trp940Arg)
c.3058T>A (p.Trp1020Arg)
Xg.32464676T>ACA412665107DMDn.3393A>T
c.3186A>T (p.Lys1062Asn)
c.3174A>T (p.Lys1058Asn)
c.94-99477A>T (n.94-99477A>T)
c.94-99966A>T (n.94-99966A>T)
n.336-247613A>T
c.3162A>T (p.Lys1054Asn)
c.2817A>T (p.Lys939Asn)
c.3057A>T (p.Lys1019Asn)
Xg.32464676T>CCA515715553DMDn.3393A>G
c.3186A>G (p.Lys1062=)
c.3174A>G (p.Lys1058=)
c.94-99477A>G (n.94-99477A>G)
c.94-99966A>G (n.94-99966A>G)
n.336-247613A>G
c.3162A>G (p.Lys1054=)
c.2817A>G (p.Lys939=)
c.3057A>G (p.Lys1019=)
 gnomAD v4
Xg.32464676T>GCA412665109DMDn.3393A>C
c.3186A>C (p.Lys1062Asn)
c.3174A>C (p.Lys1058Asn)
c.94-99477A>C (n.94-99477A>C)
c.94-99966A>C (n.94-99966A>C)
n.336-247613A>C
c.3162A>C (p.Lys1054Asn)
c.2817A>C (p.Lys939Asn)
c.3057A>C (p.Lys1019Asn)
Xg.32464678delCA2573158962DMDn.3393del
c.3186del (p.Lys1062AsnfsTer10)
c.3174del (p.Lys1058AsnfsTer10)
c.94-99477del (n.94-99477del)
c.94-99966del (n.94-99966del)
n.336-247613del
c.3162del (p.Lys1054AsnfsTer10)
c.2817del (p.Lys939AsnfsTer10)
c.3057del (p.Lys1019AsnfsTer10)
 ClinVar dbSNP
Xg.32464677T>ACA412665112DMDn.3392A>T
c.3185A>T (p.Lys1062Ile)
c.3173A>T (p.Lys1058Ile)
c.94-99478A>T (n.94-99478A>T)
c.94-99967A>T (n.94-99967A>T)
n.336-247614A>T
c.3161A>T (p.Lys1054Ile)
c.2816A>T (p.Lys939Ile)
c.3056A>T (p.Lys1019Ile)
Xg.32464677T>CCA412665115DMDn.3392A>G
c.3185A>G (p.Lys1062Arg)
c.3173A>G (p.Lys1058Arg)
c.94-99478A>G (n.94-99478A>G)
c.94-99967A>G (n.94-99967A>G)
n.336-247614A>G
c.3161A>G (p.Lys1054Arg)
c.2816A>G (p.Lys939Arg)
c.3056A>G (p.Lys1019Arg)
Xg.32464677T>GCA412665111DMDn.3392A>C
c.3185A>C (p.Lys1062Thr)
c.3173A>C (p.Lys1058Thr)
c.94-99478A>C (n.94-99478A>C)
c.94-99967A>C (n.94-99967A>C)
n.336-247614A>C
c.3161A>C (p.Lys1054Thr)
c.2816A>C (p.Lys939Thr)
c.3056A>C (p.Lys1019Thr)
Xg.32464678T>ACA412665120DMDn.3391A>T
c.3184A>T (p.Lys1062Ter)
c.3172A>T (p.Lys1058Ter)
c.94-99479A>T (n.94-99479A>T)
c.94-99968A>T (n.94-99968A>T)
n.336-247615A>T
c.3160A>T (p.Lys1054Ter)
c.2815A>T (p.Lys939Ter)
c.3055A>T (p.Lys1019Ter)
 ClinVar
Xg.32464678T>CCA412665118DMDn.3391A>G
c.3184A>G (p.Lys1062Glu)
c.3172A>G (p.Lys1058Glu)
c.94-99479A>G (n.94-99479A>G)
c.94-99968A>G (n.94-99968A>G)
n.336-247615A>G
c.3160A>G (p.Lys1054Glu)
c.2815A>G (p.Lys939Glu)
c.3055A>G (p.Lys1019Glu)
 gnomAD v4
Xg.32464678T>GCA412665122DMDn.3391A>C
c.3184A>C (p.Lys1062Gln)
c.3172A>C (p.Lys1058Gln)
c.94-99479A>C (n.94-99479A>C)
c.94-99968A>C (n.94-99968A>C)
n.336-247615A>C
c.3160A>C (p.Lys1054Gln)
c.2815A>C (p.Lys939Gln)
c.3055A>C (p.Lys1019Gln)
Xg.32464679delCA2695231988DMDn.3390del
c.3183del (p.Lys1062AsnfsTer10)
c.3171del (p.Lys1058AsnfsTer10)
c.94-99480del (n.94-99480del)
c.94-99969del (n.94-99969del)
n.336-247616del
c.3159del (p.Lys1054AsnfsTer10)
c.2814del (p.Lys939AsnfsTer10)
c.3054del (p.Lys1019AsnfsTer10)
Xg.32464679C>ACA412665124DMDn.3390G>T
c.3183G>T (p.Lys1061Asn)
c.3171G>T (p.Lys1057Asn)
c.94-99480G>T (n.94-99480G>T)
c.94-99969G>T (n.94-99969G>T)
n.336-247616G>T
c.3159G>T (p.Lys1053Asn)
c.2814G>T (p.Lys938Asn)
c.3054G>T (p.Lys1018Asn)
 gnomAD v4
Xg.32464679C>GCA412665126DMDn.3390G>C
c.3183G>C (p.Lys1061Asn)
c.3171G>C (p.Lys1057Asn)
c.94-99480G>C (n.94-99480G>C)
c.94-99969G>C (n.94-99969G>C)
n.336-247616G>C
c.3159G>C (p.Lys1053Asn)
c.2814G>C (p.Lys938Asn)
c.3054G>C (p.Lys1018Asn)
Xg.32464679C>TCA515715554DMDn.3390G>A
c.3183G>A (p.Lys1061=)
c.3171G>A (p.Lys1057=)
c.94-99480G>A (n.94-99480G>A)
c.94-99969G>A (n.94-99969G>A)
n.336-247616G>A
c.3159G>A (p.Lys1053=)
c.2814G>A (p.Lys938=)
c.3054G>A (p.Lys1018=)
Xg.32464680T>ACA412665128DMDn.3389A>T
c.3182A>T (p.Lys1061Met)
c.3170A>T (p.Lys1057Met)
c.94-99481A>T (n.94-99481A>T)
c.94-99970A>T (n.94-99970A>T)
n.336-247617A>T
c.3158A>T (p.Lys1053Met)
c.2813A>T (p.Lys938Met)
c.3053A>T (p.Lys1018Met)
Xg.32464680T>CCA10379331DMDn.3389A>G
c.3182A>G (p.Lys1061Arg)
c.3170A>G (p.Lys1057Arg)
c.94-99481A>G (n.94-99481A>G)
c.94-99970A>G (n.94-99970A>G)
n.336-247617A>G
c.3158A>G (p.Lys1053Arg)
c.2813A>G (p.Lys938Arg)
c.3053A>G (p.Lys1018Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.32464680T>GCA412665130DMDn.3389A>C
c.3182A>C (p.Lys1061Thr)
c.3170A>C (p.Lys1057Thr)
c.94-99481A>C (n.94-99481A>C)
c.94-99970A>C (n.94-99970A>C)
n.336-247617A>C
c.3158A>C (p.Lys1053Thr)
c.2813A>C (p.Lys938Thr)
c.3053A>C (p.Lys1018Thr)
Xg.32464680T=CA2422815834DMDn.3389A=
c.3182A= (p.Lys1061=)
c.3170A= (p.Lys1057=)
c.94-99481A= (n.94-99481A=)
c.94-99970A= (n.94-99970A=)
n.336-247617A=
c.3158A= (p.Lys1053=)
c.2813A= (p.Lys938=)
c.3053A= (p.Lys1018=)
Xg.32464681T>ACA412665132DMDn.3388A>T
c.3181A>T (p.Lys1061Ter)
c.3169A>T (p.Lys1057Ter)
c.94-99482A>T (n.94-99482A>T)
c.94-99971A>T (n.94-99971A>T)
n.336-247618A>T
c.3157A>T (p.Lys1053Ter)
c.2812A>T (p.Lys938Ter)
c.3052A>T (p.Lys1018Ter)
Xg.32464681T>CCA412665135DMDn.3388A>G
c.3181A>G (p.Lys1061Glu)
c.3169A>G (p.Lys1057Glu)
c.94-99482A>G (n.94-99482A>G)
c.94-99971A>G (n.94-99971A>G)
n.336-247618A>G
c.3157A>G (p.Lys1053Glu)
c.2812A>G (p.Lys938Glu)
c.3052A>G (p.Lys1018Glu)
Xg.32464681T>GCA412665137DMDn.3388A>C
c.3181A>C (p.Lys1061Gln)
c.3169A>C (p.Lys1057Gln)
c.94-99482A>C (n.94-99482A>C)
c.94-99971A>C (n.94-99971A>C)
n.336-247618A>C
c.3157A>C (p.Lys1053Gln)
c.2812A>C (p.Lys938Gln)
c.3052A>C (p.Lys1018Gln)
Xg.32464682C>ACA515715555DMDn.3387G>T
c.3180G>T (p.Leu1060=)
c.3168G>T (p.Leu1056=)
c.94-99483G>T (n.94-99483G>T)
c.94-99972G>T (n.94-99972G>T)
n.336-247619G>T
c.3156G>T (p.Leu1052=)
c.2811G>T (p.Leu937=)
c.3051G>T (p.Leu1017=)
Xg.32464682C>GCA515715556DMDn.3387G>C
c.3180G>C (p.Leu1060=)
c.3168G>C (p.Leu1056=)
c.94-99483G>C (n.94-99483G>C)
c.94-99972G>C (n.94-99972G>C)
n.336-247619G>C
c.3156G>C (p.Leu1052=)
c.2811G>C (p.Leu937=)
c.3051G>C (p.Leu1017=)
Xg.32464682C>TCA515715557DMDn.3387G>A
c.3180G>A (p.Leu1060=)
c.3168G>A (p.Leu1056=)
c.94-99483G>A (n.94-99483G>A)
c.94-99972G>A (n.94-99972G>A)
n.336-247619G>A
c.3156G>A (p.Leu1052=)
c.2811G>A (p.Leu937=)
c.3051G>A (p.Leu1017=)
Xg.32464683delCA2695231989DMDn.3386del
c.3179del (p.Leu1060ArgfsTer12)
c.3167del (p.Leu1056ArgfsTer12)
c.94-99484del (n.94-99484del)
c.94-99973del (n.94-99973del)
n.336-247620del
c.3155del (p.Leu1052ArgfsTer12)
c.2810del (p.Leu937ArgfsTer12)
c.3050del (p.Leu1017ArgfsTer12)
Xg.32464683A>CCA412665139DMDn.3386T>G
c.3179T>G (p.Leu1060Arg)
c.3167T>G (p.Leu1056Arg)
c.94-99484T>G (n.94-99484T>G)
c.94-99973T>G (n.94-99973T>G)
n.336-247620T>G
c.3155T>G (p.Leu1052Arg)
c.2810T>G (p.Leu937Arg)
c.3050T>G (p.Leu1017Arg)
Xg.32464683A>GCA412665141DMDn.3386T>C
c.3179T>C (p.Leu1060Pro)
c.3167T>C (p.Leu1056Pro)
c.94-99484T>C (n.94-99484T>C)
c.94-99973T>C (n.94-99973T>C)
n.336-247620T>C
c.3155T>C (p.Leu1052Pro)
c.2810T>C (p.Leu937Pro)
c.3050T>C (p.Leu1017Pro)
Xg.32464683A>TCA412665145DMDn.3386T>A
c.3179T>A (p.Leu1060Gln)
c.3167T>A (p.Leu1056Gln)
c.94-99484T>A (n.94-99484T>A)
c.94-99973T>A (n.94-99973T>A)
n.336-247620T>A
c.3155T>A (p.Leu1052Gln)
c.2810T>A (p.Leu937Gln)
c.3050T>A (p.Leu1017Gln)
Xg.32464684G>ACA515715558DMDn.3385C>T
c.3178C>T (p.Leu1060=)
c.3166C>T (p.Leu1056=)
c.94-99485C>T (n.94-99485C>T)
c.94-99974C>T (n.94-99974C>T)
n.336-247621C>T
c.3154C>T (p.Leu1052=)
c.2809C>T (p.Leu937=)
c.3049C>T (p.Leu1017=)
 gnomAD v4
Xg.32464684G>CCA412665147DMDn.3385C>G
c.3178C>G (p.Leu1060Val)
c.3166C>G (p.Leu1056Val)
c.94-99485C>G (n.94-99485C>G)
c.94-99974C>G (n.94-99974C>G)
n.336-247621C>G
c.3154C>G (p.Leu1052Val)
c.2809C>G (p.Leu937Val)
c.3049C>G (p.Leu1017Val)
Xg.32464684G=CA2422815835DMDn.3385C=
c.3178C= (p.Leu1060=)
c.3166C= (p.Leu1056=)
c.94-99485C= (n.94-99485C=)
c.94-99974C= (n.94-99974C=)
n.336-247621C=
c.3154C= (p.Leu1052=)
c.2809C= (p.Leu937=)
c.3049C= (p.Leu1017=)
Xg.32464684G>TCA10607064DMDn.3385C>A
c.3178C>A (p.Leu1060Met)
c.3166C>A (p.Leu1056Met)
c.94-99485C>A (n.94-99485C>A)
c.94-99974C>A (n.94-99974C>A)
n.336-247621C>A
c.3154C>A (p.Leu1052Met)
c.2809C>A (p.Leu937Met)
c.3049C>A (p.Leu1017Met)
 ClinVar dbSNP gnomAD v4
Xg.32464685G>ACA328002473DMDn.3384C>T
c.3177C>T (p.Thr1059=)
c.3165C>T (p.Thr1055=)
c.94-99486C>T (n.94-99486C>T)
c.94-99975C>T (n.94-99975C>T)
n.336-247622C>T
c.3153C>T (p.Thr1051=)
c.2808C>T (p.Thr936=)
c.3048C>T (p.Thr1016=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464685G>CCA515715559DMDn.3384C>G
c.3177C>G (p.Thr1059=)
c.3165C>G (p.Thr1055=)
c.94-99486C>G (n.94-99486C>G)
c.94-99975C>G (n.94-99975C>G)
n.336-247622C>G
c.3153C>G (p.Thr1051=)
c.2808C>G (p.Thr936=)
c.3048C>G (p.Thr1016=)
 ClinVar dbSNP gnomAD v4
Xg.32464685G=CA2422815836DMDn.3384C=
c.3177C= (p.Thr1059=)
c.3165C= (p.Thr1055=)
c.94-99486C= (n.94-99486C=)
c.94-99975C= (n.94-99975C=)
n.336-247622C=
c.3153C= (p.Thr1051=)
c.2808C= (p.Thr936=)
c.3048C= (p.Thr1016=)
Xg.32464685G>TCA10379332DMDn.3384C>A
c.3177C>A (p.Thr1059=)
c.3165C>A (p.Thr1055=)
c.94-99486C>A (n.94-99486C>A)
c.94-99975C>A (n.94-99975C>A)
n.336-247622C>A
c.3153C>A (p.Thr1051=)
c.2808C>A (p.Thr936=)
c.3048C>A (p.Thr1016=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32464686G>ACA412665156DMDn.3383C>T
c.3176C>T (p.Thr1059Ile)
c.3164C>T (p.Thr1055Ile)
c.94-99487C>T (n.94-99487C>T)
c.94-99976C>T (n.94-99976C>T)
n.336-247623C>T
c.3152C>T (p.Thr1051Ile)
c.2807C>T (p.Thr936Ile)
c.3047C>T (p.Thr1016Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.32464686G>CCA412665154DMDn.3383C>G
c.3176C>G (p.Thr1059Ser)
c.3164C>G (p.Thr1055Ser)
c.94-99487C>G (n.94-99487C>G)
c.94-99976C>G (n.94-99976C>G)
n.336-247623C>G
c.3152C>G (p.Thr1051Ser)
c.2807C>G (p.Thr936Ser)
c.3047C>G (p.Thr1016Ser)
Xg.32464686G=CA2422815837DMDn.3383C=
c.3176C= (p.Thr1059=)
c.3164C= (p.Thr1055=)
c.94-99487C= (n.94-99487C=)
c.94-99976C= (n.94-99976C=)
n.336-247623C=
c.3152C= (p.Thr1051=)
c.2807C= (p.Thr936=)
c.3047C= (p.Thr1016=)
Xg.32464686G>TCA412665152DMDn.3383C>A
c.3176C>A (p.Thr1059Asn)
c.3164C>A (p.Thr1055Asn)
c.94-99487C>A (n.94-99487C>A)
c.94-99976C>A (n.94-99976C>A)
n.336-247623C>A
c.3152C>A (p.Thr1051Asn)
c.2807C>A (p.Thr936Asn)
c.3047C>A (p.Thr1016Asn)
Xg.32464687T>ACA412665157DMDn.3382A>T
c.3175A>T (p.Thr1059Ser)
c.3163A>T (p.Thr1055Ser)
c.94-99488A>T (n.94-99488A>T)
c.94-99977A>T (n.94-99977A>T)
n.336-247624A>T
c.3151A>T (p.Thr1051Ser)
c.2806A>T (p.Thr936Ser)
c.3046A>T (p.Thr1016Ser)
Xg.32464687T>CCA10379333DMDn.3382A>G
c.3175A>G (p.Thr1059Ala)
c.3163A>G (p.Thr1055Ala)
c.94-99488A>G (n.94-99488A>G)
c.94-99977A>G (n.94-99977A>G)
n.336-247624A>G
c.3151A>G (p.Thr1051Ala)
c.2806A>G (p.Thr936Ala)
c.3046A>G (p.Thr1016Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464687T>GCA412665160DMDn.3382A>C
c.3175A>C (p.Thr1059Pro)
c.3163A>C (p.Thr1055Pro)
c.94-99488A>C (n.94-99488A>C)
c.94-99977A>C (n.94-99977A>C)
n.336-247624A>C
c.3151A>C (p.Thr1051Pro)
c.2806A>C (p.Thr936Pro)
c.3046A>C (p.Thr1016Pro)
Xg.32464687T=CA2422815838DMDn.3382A=
c.3175A= (p.Thr1059=)
c.3163A= (p.Thr1055=)
c.94-99488A= (n.94-99488A=)
c.94-99977A= (n.94-99977A=)
n.336-247624A=
c.3151A= (p.Thr1051=)
c.2806A= (p.Thr936=)
c.3046A= (p.Thr1016=)
Xg.32464688T>ACA412665162DMDn.3381A>T
c.3174A>T (p.Gln1058His)
c.3162A>T (p.Gln1054His)
c.94-99489A>T (n.94-99489A>T)
c.94-99978A>T (n.94-99978A>T)
n.336-247625A>T
c.3150A>T (p.Gln1050His)
c.2805A>T (p.Gln935His)
c.3045A>T (p.Gln1015His)
Xg.32464688T>CCA515715560DMDn.3381A>G
c.3174A>G (p.Gln1058=)
c.3162A>G (p.Gln1054=)
c.94-99489A>G (n.94-99489A>G)
c.94-99978A>G (n.94-99978A>G)
n.336-247625A>G
c.3150A>G (p.Gln1050=)
c.2805A>G (p.Gln935=)
c.3045A>G (p.Gln1015=)
Xg.32464688T>GCA412665163DMDn.3381A>C
c.3174A>C (p.Gln1058His)
c.3162A>C (p.Gln1054His)
c.94-99489A>C (n.94-99489A>C)
c.94-99978A>C (n.94-99978A>C)
n.336-247625A>C
c.3150A>C (p.Gln1050His)
c.2805A>C (p.Gln935His)
c.3045A>C (p.Gln1015His)
Xg.32464689T>ACA412665166DMDn.3380A>T
c.3173A>T (p.Gln1058Leu)
c.3161A>T (p.Gln1054Leu)
c.94-99490A>T (n.94-99490A>T)
c.94-99979A>T (n.94-99979A>T)
n.336-247626A>T
c.3149A>T (p.Gln1050Leu)
c.2804A>T (p.Gln935Leu)
c.3044A>T (p.Gln1015Leu)
Xg.32464689T>CCA10379334DMDn.3380A>G
c.3173A>G (p.Gln1058Arg)
c.3161A>G (p.Gln1054Arg)
c.94-99490A>G (n.94-99490A>G)
c.94-99979A>G (n.94-99979A>G)
n.336-247626A>G
c.3149A>G (p.Gln1050Arg)
c.2804A>G (p.Gln935Arg)
c.3044A>G (p.Gln1015Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464689T>GCA412665169DMDn.3380A>C
c.3173A>C (p.Gln1058Pro)
c.3161A>C (p.Gln1054Pro)
c.94-99490A>C (n.94-99490A>C)
c.94-99979A>C (n.94-99979A>C)
n.336-247626A>C
c.3149A>C (p.Gln1050Pro)
c.2804A>C (p.Gln935Pro)
c.3044A>C (p.Gln1015Pro)
Xg.32464689T=CA2422815839DMDn.3380A=
c.3173A= (p.Gln1058=)
c.3161A= (p.Gln1054=)
c.94-99490A= (n.94-99490A=)
c.94-99979A= (n.94-99979A=)
n.336-247626A=
c.3149A= (p.Gln1050=)
c.2804A= (p.Gln935=)
c.3044A= (p.Gln1015=)
Xg.32464692_32464695delCA2695231990DMDn.3377_3380del
c.3170_3173del (p.Ile1057LysfsTer3)
c.3158_3161del (p.Ile1053LysfsTer3)
c.94-99493_94-99490del (n.94-99493_94-99490del)
c.94-99982_94-99979del (n.94-99982_94-99979del)
n.336-247629_336-247626del
c.3146_3149del (p.Ile1049LysfsTer3)
c.2801_2804del (p.Ile934LysfsTer3)
c.3041_3044del (p.Ile1014LysfsTer3)
Xg.32464690G>ACA412665170DMDn.3379C>T
c.3172C>T (p.Gln1058Ter)
c.3160C>T (p.Gln1054Ter)
c.94-99491C>T (n.94-99491C>T)
c.94-99980C>T (n.94-99980C>T)
n.336-247627C>T
c.3148C>T (p.Gln1050Ter)
c.2803C>T (p.Gln935Ter)
c.3043C>T (p.Gln1015Ter)
 ClinVar dbSNP
Xg.32464690G>CCA412665171DMDn.3379C>G
c.3172C>G (p.Gln1058Glu)
c.3160C>G (p.Gln1054Glu)
c.94-99491C>G (n.94-99491C>G)
c.94-99980C>G (n.94-99980C>G)
n.336-247627C>G
c.3148C>G (p.Gln1050Glu)
c.2803C>G (p.Gln935Glu)
c.3043C>G (p.Gln1015Glu)
Xg.32464690G>TCA412665173DMDn.3379C>A
c.3172C>A (p.Gln1058Lys)
c.3160C>A (p.Gln1054Lys)
c.94-99491C>A (n.94-99491C>A)
c.94-99980C>A (n.94-99980C>A)
n.336-247627C>A
c.3148C>A (p.Gln1050Lys)
c.2803C>A (p.Gln935Lys)
c.3043C>A (p.Gln1015Lys)
 gnomAD v4

Number of alleles fetched