Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
Xg.32464691T>ACA515715561DMDn.3378A>T
c.3171A>T (p.Ile1057=)
c.3159A>T (p.Ile1053=)
c.94-99492A>T (n.94-99492A>T)
c.94-99981A>T (n.94-99981A>T)
n.336-247628A>T
c.3147A>T (p.Ile1049=)
c.2802A>T (p.Ile934=)
c.3042A>T (p.Ile1014=)
Xg.32464691T>CCA412665174DMDn.3378A>G
c.3171A>G (p.Ile1057Met)
c.3159A>G (p.Ile1053Met)
c.94-99492A>G (n.94-99492A>G)
c.94-99981A>G (n.94-99981A>G)
n.336-247628A>G
c.3147A>G (p.Ile1049Met)
c.2802A>G (p.Ile934Met)
c.3042A>G (p.Ile1014Met)
Xg.32464691T>GCA515715562DMDn.3378A>C
c.3171A>C (p.Ile1057=)
c.3159A>C (p.Ile1053=)
c.94-99492A>C (n.94-99492A>C)
c.94-99981A>C (n.94-99981A>C)
n.336-247628A>C
c.3147A>C (p.Ile1049=)
c.2802A>C (p.Ile934=)
c.3042A>C (p.Ile1014=)
Xg.32464692A>CCA412665181DMDn.3377T>G
c.3170T>G (p.Ile1057Arg)
c.3158T>G (p.Ile1053Arg)
c.94-99493T>G (n.94-99493T>G)
c.94-99982T>G (n.94-99982T>G)
n.336-247629T>G
c.3146T>G (p.Ile1049Arg)
c.2801T>G (p.Ile934Arg)
c.3041T>G (p.Ile1014Arg)
Xg.32464692A>GCA412665178DMDn.3377T>C
c.3170T>C (p.Ile1057Thr)
c.3158T>C (p.Ile1053Thr)
c.94-99493T>C (n.94-99493T>C)
c.94-99982T>C (n.94-99982T>C)
n.336-247629T>C
c.3146T>C (p.Ile1049Thr)
c.2801T>C (p.Ile934Thr)
c.3041T>C (p.Ile1014Thr)
Xg.32464692A>TCA412665177DMDn.3377T>A
c.3170T>A (p.Ile1057Lys)
c.3158T>A (p.Ile1053Lys)
c.94-99493T>A (n.94-99493T>A)
c.94-99982T>A (n.94-99982T>A)
n.336-247629T>A
c.3146T>A (p.Ile1049Lys)
c.2801T>A (p.Ile934Lys)
c.3041T>A (p.Ile1014Lys)
Xg.32464693T>ACA412665182DMDn.3376A>T
c.3169A>T (p.Ile1057Leu)
c.3157A>T (p.Ile1053Leu)
c.94-99494A>T (n.94-99494A>T)
c.94-99983A>T (n.94-99983A>T)
n.336-247630A>T
c.3145A>T (p.Ile1049Leu)
c.2800A>T (p.Ile934Leu)
c.3040A>T (p.Ile1014Leu)
 gnomAD v4
Xg.32464693T>CCA10653907DMDn.3376A>G
c.3169A>G (p.Ile1057Val)
c.3157A>G (p.Ile1053Val)
c.94-99494A>G (n.94-99494A>G)
c.94-99983A>G (n.94-99983A>G)
n.336-247630A>G
c.3145A>G (p.Ile1049Val)
c.2800A>G (p.Ile934Val)
c.3040A>G (p.Ile1014Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32464693T>GCA412665184DMDn.3376A>C
c.3169A>C (p.Ile1057Leu)
c.3157A>C (p.Ile1053Leu)
c.94-99494A>C (n.94-99494A>C)
c.94-99983A>C (n.94-99983A>C)
n.336-247630A>C
c.3145A>C (p.Ile1049Leu)
c.2800A>C (p.Ile934Leu)
c.3040A>C (p.Ile1014Leu)
Xg.32464693T=CA2422815840DMDn.3376A=
c.3169A= (p.Ile1057=)
c.3157A= (p.Ile1053=)
c.94-99494A= (n.94-99494A=)
c.94-99983A= (n.94-99983A=)
n.336-247630A=
c.3145A= (p.Ile1049=)
c.2800A= (p.Ile934=)
c.3040A= (p.Ile1014=)
Xg.32464694delCA2830782568DMDn.3375del
c.3168del (p.His1056GlnfsTer5)
c.3156del (p.His1052GlnfsTer5)
c.94-99495del (n.94-99495del)
c.94-99984del (n.94-99984del)
n.336-247631del
c.3144del (p.His1048GlnfsTer5)
c.2799del (p.His933GlnfsTer5)
c.3039del (p.His1013GlnfsTer5)
Xg.32464694G>ACA515715563DMDn.3375C>T
c.3168C>T (p.His1056=)
c.3156C>T (p.His1052=)
c.94-99495C>T (n.94-99495C>T)
c.94-99984C>T (n.94-99984C>T)
n.336-247631C>T
c.3144C>T (p.His1048=)
c.2799C>T (p.His933=)
c.3039C>T (p.His1013=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464694G>CCA412665186DMDn.3375C>G
c.3168C>G (p.His1056Gln)
c.3156C>G (p.His1052Gln)
c.94-99495C>G (n.94-99495C>G)
c.94-99984C>G (n.94-99984C>G)
n.336-247631C>G
c.3144C>G (p.His1048Gln)
c.2799C>G (p.His933Gln)
c.3039C>G (p.His1013Gln)
Xg.32464694G=CA2422815841DMDn.3375C=
c.3168C= (p.His1056=)
c.3156C= (p.His1052=)
c.94-99495C= (n.94-99495C=)
c.94-99984C= (n.94-99984C=)
n.336-247631C=
c.3144C= (p.His1048=)
c.2799C= (p.His933=)
c.3039C= (p.His1013=)
Xg.32464694G>TCA412665188DMDn.3375C>A
c.3168C>A (p.His1056Gln)
c.3156C>A (p.His1052Gln)
c.94-99495C>A (n.94-99495C>A)
c.94-99984C>A (n.94-99984C>A)
n.336-247631C>A
c.3144C>A (p.His1048Gln)
c.2799C>A (p.His933Gln)
c.3039C>A (p.His1013Gln)
Xg.32464695T>ACA412665190DMDn.3374A>T
c.3167A>T (p.His1056Leu)
c.3155A>T (p.His1052Leu)
c.94-99496A>T (n.94-99496A>T)
c.94-99985A>T (n.94-99985A>T)
n.336-247632A>T
c.3143A>T (p.His1048Leu)
c.2798A>T (p.His933Leu)
c.3038A>T (p.His1013Leu)
Xg.32464695T>CCA10379335DMDn.3374A>G
c.3167A>G (p.His1056Arg)
c.3155A>G (p.His1052Arg)
c.94-99496A>G (n.94-99496A>G)
c.94-99985A>G (n.94-99985A>G)
n.336-247632A>G
c.3143A>G (p.His1048Arg)
c.2798A>G (p.His933Arg)
c.3038A>G (p.His1013Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32464695T>GCA412665193DMDn.3374A>C
c.3167A>C (p.His1056Pro)
c.3155A>C (p.His1052Pro)
c.94-99496A>C (n.94-99496A>C)
c.94-99985A>C (n.94-99985A>C)
n.336-247632A>C
c.3143A>C (p.His1048Pro)
c.2798A>C (p.His933Pro)
c.3038A>C (p.His1013Pro)
Xg.32464695T=CA2422815842DMDn.3374A=
c.3167A= (p.His1056=)
c.3155A= (p.His1052=)
c.94-99496A= (n.94-99496A=)
c.94-99985A= (n.94-99985A=)
n.336-247632A=
c.3143A= (p.His1048=)
c.2798A= (p.His933=)
c.3038A= (p.His1013=)
Xg.32464696G>ACA412665195DMDn.3373C>T
c.3166C>T (p.His1056Tyr)
c.3154C>T (p.His1052Tyr)
c.94-99497C>T (n.94-99497C>T)
c.94-99986C>T (n.94-99986C>T)
n.336-247633C>T
c.3142C>T (p.His1048Tyr)
c.2797C>T (p.His933Tyr)
c.3037C>T (p.His1013Tyr)
Xg.32464696G>CCA412665196DMDn.3373C>G
c.3166C>G (p.His1056Asp)
c.3154C>G (p.His1052Asp)
c.94-99497C>G (n.94-99497C>G)
c.94-99986C>G (n.94-99986C>G)
n.336-247633C>G
c.3142C>G (p.His1048Asp)
c.2797C>G (p.His933Asp)
c.3037C>G (p.His1013Asp)
Xg.32464696G>TCA412665198DMDn.3373C>A
c.3166C>A (p.His1056Asn)
c.3154C>A (p.His1052Asn)
c.94-99497C>A (n.94-99497C>A)
c.94-99986C>A (n.94-99986C>A)
n.336-247633C>A
c.3142C>A (p.His1048Asn)
c.2797C>A (p.His933Asn)
c.3037C>A (p.His1013Asn)
Xg.32464696_32464697insCTTTCCCGTCTACCA2820325822DMDn.3372_3373insGTAGACGGGAAAG
c.3165_3166insGTAGACGGGAAAG (p.His1056ValfsTer15)
c.3153_3154insGTAGACGGGAAAG (p.His1052ValfsTer15)
c.94-99498_94-99497insGTAGACGGGAAAG (n.94-99498_94-99497insGTAGACGGGAAAG)
c.94-99987_94-99986insGTAGACGGGAAAG (n.94-99987_94-99986insGTAGACGGGAAAG)
n.336-247634_336-247633insGTAGACGGGAAAG
c.3141_3142insGTAGACGGGAAAG (p.His1048ValfsTer15)
c.2796_2797insGTAGACGGGAAAG (p.His933ValfsTer15)
c.3036_3037insGTAGACGGGAAAG (p.His1013ValfsTer15)
Xg.32464697A>CCA412665199DMDn.3372T>G
c.3165T>G (p.Asn1055Lys)
c.3153T>G (p.Asn1051Lys)
c.94-99498T>G (n.94-99498T>G)
c.94-99987T>G (n.94-99987T>G)
n.336-247634T>G
c.3141T>G (p.Asn1047Lys)
c.2796T>G (p.Asn932Lys)
c.3036T>G (p.Asn1012Lys)
Xg.32464697A>GCA515715564DMDn.3372T>C
c.3165T>C (p.Asn1055=)
c.3153T>C (p.Asn1051=)
c.94-99498T>C (n.94-99498T>C)
c.94-99987T>C (n.94-99987T>C)
n.336-247634T>C
c.3141T>C (p.Asn1047=)
c.2796T>C (p.Asn932=)
c.3036T>C (p.Asn1012=)
 gnomAD v4
Xg.32464697A>TCA412665201DMDn.3372T>A
c.3165T>A (p.Asn1055Lys)
c.3153T>A (p.Asn1051Lys)
c.94-99498T>A (n.94-99498T>A)
c.94-99987T>A (n.94-99987T>A)
n.336-247634T>A
c.3141T>A (p.Asn1047Lys)
c.2796T>A (p.Asn932Lys)
c.3036T>A (p.Asn1012Lys)
Xg.32464698T>ACA412665208DMDn.3371A>T
c.3164A>T (p.Asn1055Ile)
c.3152A>T (p.Asn1051Ile)
c.94-99499A>T (n.94-99499A>T)
c.94-99988A>T (n.94-99988A>T)
n.336-247635A>T
c.3140A>T (p.Asn1047Ile)
c.2795A>T (p.Asn932Ile)
c.3035A>T (p.Asn1012Ile)
Xg.32464698T>CCA412665203DMDn.3371A>G
c.3164A>G (p.Asn1055Ser)
c.3152A>G (p.Asn1051Ser)
c.94-99499A>G (n.94-99499A>G)
c.94-99988A>G (n.94-99988A>G)
n.336-247635A>G
c.3140A>G (p.Asn1047Ser)
c.2795A>G (p.Asn932Ser)
c.3035A>G (p.Asn1012Ser)
Xg.32464698T>GCA412665205DMDn.3371A>C
c.3164A>C (p.Asn1055Thr)
c.3152A>C (p.Asn1051Thr)
c.94-99499A>C (n.94-99499A>C)
c.94-99988A>C (n.94-99988A>C)
n.336-247635A>C
c.3140A>C (p.Asn1047Thr)
c.2795A>C (p.Asn932Thr)
c.3035A>C (p.Asn1012Thr)
Xg.32464699T>ACA412665215DMDn.3370A>T
c.3163A>T (p.Asn1055Tyr)
c.3151A>T (p.Asn1051Tyr)
c.94-99500A>T (n.94-99500A>T)
c.94-99989A>T (n.94-99989A>T)
n.336-247636A>T
c.3139A>T (p.Asn1047Tyr)
c.2794A>T (p.Asn932Tyr)
c.3034A>T (p.Asn1012Tyr)
Xg.32464699T>CCA412665217DMDn.3370A>G
c.3163A>G (p.Asn1055Asp)
c.3151A>G (p.Asn1051Asp)
c.94-99500A>G (n.94-99500A>G)
c.94-99989A>G (n.94-99989A>G)
n.336-247636A>G
c.3139A>G (p.Asn1047Asp)
c.2794A>G (p.Asn932Asp)
c.3034A>G (p.Asn1012Asp)
Xg.32464699T>GCA412665219DMDn.3370A>C
c.3163A>C (p.Asn1055His)
c.3151A>C (p.Asn1051His)
c.94-99500A>C (n.94-99500A>C)
c.94-99989A>C (n.94-99989A>C)
n.336-247636A>C
c.3139A>C (p.Asn1047His)
c.2794A>C (p.Asn932His)
c.3034A>C (p.Asn1012His)
Xg.32464700C>ACA412665222DMDn.3370-1G>T
c.3163-1G>T (n.3163-1G>T)
c.3151-1G>T (n.3151-1G>T)
c.94-99501G>T (n.94-99501G>T)
c.94-99990G>T (n.94-99990G>T)
n.336-247637G>T
c.3139-1G>T (n.3139-1G>T)
c.2794-1G>T (n.2794-1G>T)
c.3034-1G>T (n.3034-1G>T)
 ClinVar dbSNP
Xg.32464700C>GCA412665223DMDn.3370-1G>C
c.3163-1G>C (n.3163-1G>C)
c.3151-1G>C (n.3151-1G>C)
c.94-99501G>C (n.94-99501G>C)
c.94-99990G>C (n.94-99990G>C)
n.336-247637G>C
c.3139-1G>C (n.3139-1G>C)
c.2794-1G>C (n.2794-1G>C)
c.3034-1G>C (n.3034-1G>C)
Xg.32464700C>TCA412665224DMDn.3370-1G>A
c.3163-1G>A (n.3163-1G>A)
c.3151-1G>A (n.3151-1G>A)
c.94-99501G>A (n.94-99501G>A)
c.94-99990G>A (n.94-99990G>A)
n.336-247637G>A
c.3139-1G>A (n.3139-1G>A)
c.2794-1G>A (n.2794-1G>A)
c.3034-1G>A (n.3034-1G>A)
Xg.32464701T>ACA412665225DMDn.3370-2A>T
c.3163-2A>T (n.3163-2A>T)
c.3151-2A>T (n.3151-2A>T)
c.94-99502A>T (n.94-99502A>T)
c.94-99991A>T (n.94-99991A>T)
n.336-247638A>T
c.3139-2A>T (n.3139-2A>T)
c.2794-2A>T (n.2794-2A>T)
c.3034-2A>T (n.3034-2A>T)
Xg.32464701T>CCA412665226DMDn.3370-2A>G
c.3163-2A>G (n.3163-2A>G)
c.3151-2A>G (n.3151-2A>G)
c.94-99502A>G (n.94-99502A>G)
c.94-99991A>G (n.94-99991A>G)
n.336-247638A>G
c.3139-2A>G (n.3139-2A>G)
c.2794-2A>G (n.2794-2A>G)
c.3034-2A>G (n.3034-2A>G)
 gnomAD v4
Xg.32464701T>GCA412665227DMDn.3370-2A>C
c.3163-2A>C (n.3163-2A>C)
c.3151-2A>C (n.3151-2A>C)
c.94-99502A>C (n.94-99502A>C)
c.94-99991A>C (n.94-99991A>C)
n.336-247638A>C
c.3139-2A>C (n.3139-2A>C)
c.2794-2A>C (n.2794-2A>C)
c.3034-2A>C (n.3034-2A>C)
Xg.32464702G=CA2422815843DMDn.3370-3C=
c.3163-3C= (n.3163-3C=)
c.3151-3C= (n.3151-3C=)
c.94-99503C= (n.94-99503C=)
c.94-99992C= (n.94-99992C=)
n.336-247639C=
c.3139-3C= (n.3139-3C=)
c.2794-3C= (n.2794-3C=)
c.3034-3C= (n.3034-3C=)
Xg.32464702G>TCA077198DMDn.3370-3C>A
c.3163-3C>A (n.3163-3C>A)
c.3151-3C>A (n.3151-3C>A)
c.94-99503C>A (n.94-99503C>A)
c.94-99992C>A (n.94-99992C>A)
n.336-247639C>A
c.3139-3C>A (n.3139-3C>A)
c.2794-3C>A (n.2794-3C>A)
c.3034-3C>A (n.3034-3C>A)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.32464703_32464704insTCA2820325829DMDn.3370-5_3370-4insA
c.3163-5_3163-4insA (n.3163-5_3163-4insA)
c.3151-5_3151-4insA (n.3151-5_3151-4insA)
c.94-99505_94-99504insA (n.94-99505_94-99504insA)
c.94-99994_94-99993insA (n.94-99994_94-99993insA)
n.336-247641_336-247640insA
c.3139-5_3139-4insA (n.3139-5_3139-4insA)
c.2794-5_2794-4insA (n.2794-5_2794-4insA)
c.3034-5_3034-4insA (n.3034-5_3034-4insA)
Xg.32464704A>GCA2693396419DMDn.3370-5T>C
c.3163-5T>C (n.3163-5T>C)
c.3151-5T>C (n.3151-5T>C)
c.94-99505T>C (n.94-99505T>C)
c.94-99994T>C (n.94-99994T>C)
n.336-247641T>C
c.3139-5T>C (n.3139-5T>C)
c.2794-5T>C (n.2794-5T>C)
c.3034-5T>C (n.3034-5T>C)
 gnomAD v4
Xg.32464704_32464705insGGCA2520391776DMDn.3370-6_3370-5insCC
c.3163-6_3163-5insCC (n.3163-6_3163-5insCC)
c.3151-6_3151-5insCC (n.3151-6_3151-5insCC)
c.94-99506_94-99505insCC (n.94-99506_94-99505insCC)
c.94-99995_94-99994insCC (n.94-99995_94-99994insCC)
n.336-247642_336-247641insCC
c.3139-6_3139-5insCC (n.3139-6_3139-5insCC)
c.2794-6_2794-5insCC (n.2794-6_2794-5insCC)
c.3034-6_3034-5insCC (n.3034-6_3034-5insCC)
Xg.32464705_32464706insACGGGGCAAATGGGTTTCTTAAACTCTGTTGTAGCAATGGCTGCTTCTAATTCCTCTTGTGCAGGCTGCATCA2820325840DMDn.3370-7_3370-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT
c.3163-7_3163-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT (n.3163-7_3163-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT)
c.3151-7_3151-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT (n.3151-7_3151-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT)
c.94-99507_94-99506insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT (n.94-99507_94-99506insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT)
c.94-99996_94-99995insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT (n.94-99996_94-99995insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT)
n.336-247643_336-247642insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT
c.3139-7_3139-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT (n.3139-7_3139-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT)
c.2794-7_2794-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT (n.2794-7_2794-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT)
c.3034-7_3034-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT (n.3034-7_3034-6insATGCAGCCTGCACAAGAGGAATTAGAAGCAGCCATTGCTACAACAGAGTTTAAGAAACCCATTTGCCCCGT)
Xg.32464706C>ACA2693396420DMDn.3370-7G>T
c.3163-7G>T (n.3163-7G>T)
c.3151-7G>T (n.3151-7G>T)
c.94-99507G>T (n.94-99507G>T)
c.94-99996G>T (n.94-99996G>T)
n.336-247643G>T
c.3139-7G>T (n.3139-7G>T)
c.2794-7G>T (n.2794-7G>T)
c.3034-7G>T (n.3034-7G>T)
 gnomAD v4
Xg.32464706C=CA2422815844DMDn.3370-7G=
c.3163-7G= (n.3163-7G=)
c.3151-7G= (n.3151-7G=)
c.94-99507G= (n.94-99507G=)
c.94-99996G= (n.94-99996G=)
n.336-247643G=
c.3139-7G= (n.3139-7G=)
c.2794-7G= (n.2794-7G=)
c.3034-7G= (n.3034-7G=)
Xg.32464706C>GCA2525638073DMDn.3370-7G>C
c.3163-7G>C (n.3163-7G>C)
c.3151-7G>C (n.3151-7G>C)
c.94-99507G>C (n.94-99507G>C)
c.94-99996G>C (n.94-99996G>C)
n.336-247643G>C
c.3139-7G>C (n.3139-7G>C)
c.2794-7G>C (n.2794-7G>C)
c.3034-7G>C (n.3034-7G>C)
Xg.32464706C>TCA10379336DMDn.3370-7G>A
c.3163-7G>A (n.3163-7G>A)
c.3151-7G>A (n.3151-7G>A)
c.94-99507G>A (n.94-99507G>A)
c.94-99996G>A (n.94-99996G>A)
n.336-247643G>A
c.3139-7G>A (n.3139-7G>A)
c.2794-7G>A (n.2794-7G>A)
c.3034-7G>A (n.3034-7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32464707G>ACA328002494DMDn.3370-8C>T
c.3163-8C>T (n.3163-8C>T)
c.3151-8C>T (n.3151-8C>T)
c.94-99508C>T (n.94-99508C>T)
c.94-99997C>T (n.94-99997C>T)
n.336-247644C>T
c.3139-8C>T (n.3139-8C>T)
c.2794-8C>T (n.2794-8C>T)
c.3034-8C>T (n.3034-8C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32464707G=CA2422815845DMDn.3370-8C=
c.3163-8C= (n.3163-8C=)
c.3151-8C= (n.3151-8C=)
c.94-99508C= (n.94-99508C=)
c.94-99997C= (n.94-99997C=)
n.336-247644C=
c.3139-8C= (n.3139-8C=)
c.2794-8C= (n.2794-8C=)
c.3034-8C= (n.3034-8C=)
Xg.32464707G>TCA2693396421DMDn.3370-8C>A
c.3163-8C>A (n.3163-8C>A)
c.3151-8C>A (n.3151-8C>A)
c.94-99508C>A (n.94-99508C>A)
c.94-99997C>A (n.94-99997C>A)
n.336-247644C>A
c.3139-8C>A (n.3139-8C>A)
c.2794-8C>A (n.2794-8C>A)
c.3034-8C>A (n.3034-8C>A)
 gnomAD v4
Xg.32464708A>CCA2693396422DMDn.3370-9T>G
c.3163-9T>G (n.3163-9T>G)
c.3151-9T>G (n.3151-9T>G)
c.94-99509T>G (n.94-99509T>G)
c.94-99998T>G (n.94-99998T>G)
n.336-247645T>G
c.3139-9T>G (n.3139-9T>G)
c.2794-9T>G (n.2794-9T>G)
c.3034-9T>G (n.3034-9T>G)
 gnomAD v4
Xg.32464709G>ACA2697552987DMDn.3370-10C>T
c.3163-10C>T (n.3163-10C>T)
c.3151-10C>T (n.3151-10C>T)
c.94-99510C>T (n.94-99510C>T)
c.94-99999C>T (n.94-99999C>T)
n.336-247646C>T
c.3139-10C>T (n.3139-10C>T)
c.2794-10C>T (n.2794-10C>T)
c.3034-10C>T (n.3034-10C>T)
 ClinVar
Xg.32464709G>CCA2573158963DMDn.3370-10C>G
c.3163-10C>G (n.3163-10C>G)
c.3151-10C>G (n.3151-10C>G)
c.94-99510C>G (n.94-99510C>G)
c.94-99999C>G (n.94-99999C>G)
n.336-247646C>G
c.3139-10C>G (n.3139-10C>G)
c.2794-10C>G (n.2794-10C>G)
c.3034-10C>G (n.3034-10C>G)
 ClinVar dbSNP
Xg.32464709G>TCA2579579891DMDn.3370-10C>A
c.3163-10C>A (n.3163-10C>A)
c.3151-10C>A (n.3151-10C>A)
c.94-99510C>A (n.94-99510C>A)
c.94-99999C>A (n.94-99999C>A)
n.336-247646C>A
c.3139-10C>A (n.3139-10C>A)
c.2794-10C>A (n.2794-10C>A)
c.3034-10C>A (n.3034-10C>A)
 gnomAD v4
Xg.32464710A>TCA2697552989DMDn.3370-11T>A
c.3163-11T>A (n.3163-11T>A)
c.3151-11T>A (n.3151-11T>A)
c.94-99511T>A (n.94-99511T>A)
c.94-100000T>A (n.94-100000T>A)
n.336-247647T>A
c.3139-11T>A (n.3139-11T>A)
c.2794-11T>A (n.2794-11T>A)
c.3034-11T>A (n.3034-11T>A)
 ClinVar
Xg.32464711C>ACA328002497DMDn.3370-12G>T
c.3163-12G>T (n.3163-12G>T)
c.3151-12G>T (n.3151-12G>T)
c.94-99512G>T (n.94-99512G>T)
c.94-100001G>T (n.94-100001G>T)
n.336-247648G>T
c.3139-12G>T (n.3139-12G>T)
c.2794-12G>T (n.2794-12G>T)
c.3034-12G>T (n.3034-12G>T)
 dbSNP
Xg.32464711C=CA2422815846DMDn.3370-12G=
c.3163-12G= (n.3163-12G=)
c.3151-12G= (n.3151-12G=)
c.94-99512G= (n.94-99512G=)
c.94-100001G= (n.94-100001G=)
n.336-247648G=
c.3139-12G= (n.3139-12G=)
c.2794-12G= (n.2794-12G=)
c.3034-12G= (n.3034-12G=)
Xg.32464712C>ACA2693396423DMDn.3370-13G>T
c.3163-13G>T (n.3163-13G>T)
c.3151-13G>T (n.3151-13G>T)
c.94-99513G>T (n.94-99513G>T)
c.94-100002G>T (n.94-100002G>T)
n.336-247649G>T
c.3139-13G>T (n.3139-13G>T)
c.2794-13G>T (n.2794-13G>T)
c.3034-13G>T (n.3034-13G>T)
 ClinVar gnomAD v4
Xg.32464712C>TCA2693396424DMDn.3370-13G>A
c.3163-13G>A (n.3163-13G>A)
c.3151-13G>A (n.3151-13G>A)
c.94-99513G>A (n.94-99513G>A)
c.94-100002G>A (n.94-100002G>A)
n.336-247649G>A
c.3139-13G>A (n.3139-13G>A)
c.2794-13G>A (n.2794-13G>A)
c.3034-13G>A (n.3034-13G>A)
 gnomAD v4
Xg.32464713C>ACA2693396425DMDn.3370-14G>T
c.3163-14G>T (n.3163-14G>T)
c.3151-14G>T (n.3151-14G>T)
c.94-99514G>T (n.94-99514G>T)
c.94-100003G>T (n.94-100003G>T)
n.336-247650G>T
c.3139-14G>T (n.3139-14G>T)
c.2794-14G>T (n.2794-14G>T)
c.3034-14G>T (n.3034-14G>T)
 gnomAD v4
Xg.32464713C=CA2422815847DMDn.3370-14G=
c.3163-14G= (n.3163-14G=)
c.3151-14G= (n.3151-14G=)
c.94-99514G= (n.94-99514G=)
c.94-100003G= (n.94-100003G=)
n.336-247650G=
c.3139-14G= (n.3139-14G=)
c.2794-14G= (n.2794-14G=)
c.3034-14G= (n.3034-14G=)
Xg.32464713C>GCA640971457DMDn.3370-14G>C
c.3163-14G>C (n.3163-14G>C)
c.3151-14G>C (n.3151-14G>C)
c.94-99514G>C (n.94-99514G>C)
c.94-100003G>C (n.94-100003G>C)
n.336-247650G>C
c.3139-14G>C (n.3139-14G>C)
c.2794-14G>C (n.2794-14G>C)
c.3034-14G>C (n.3034-14G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464713C>TCA328002498DMDn.3370-14G>A
c.3163-14G>A (n.3163-14G>A)
c.3151-14G>A (n.3151-14G>A)
c.94-99514G>A (n.94-99514G>A)
c.94-100003G>A (n.94-100003G>A)
n.336-247650G>A
c.3139-14G>A (n.3139-14G>A)
c.2794-14G>A (n.2794-14G>A)
c.3034-14G>A (n.3034-14G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32464714G>ACA10379337DMDn.3370-15C>T
c.3163-15C>T (n.3163-15C>T)
c.3151-15C>T (n.3151-15C>T)
c.94-99515C>T (n.94-99515C>T)
c.94-100004C>T (n.94-100004C>T)
n.336-247651C>T
c.3139-15C>T (n.3139-15C>T)
c.2794-15C>T (n.2794-15C>T)
c.3034-15C>T (n.3034-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32464714G=CA2422815848DMDn.3370-15C=
c.3163-15C= (n.3163-15C=)
c.3151-15C= (n.3151-15C=)
c.94-99515C= (n.94-99515C=)
c.94-100004C= (n.94-100004C=)
n.336-247651C=
c.3139-15C= (n.3139-15C=)
c.2794-15C= (n.2794-15C=)
c.3034-15C= (n.3034-15C=)
Xg.32464714G>TCA874733905DMDn.3370-15C>A
c.3163-15C>A (n.3163-15C>A)
c.3151-15C>A (n.3151-15C>A)
c.94-99515C>A (n.94-99515C>A)
c.94-100004C>A (n.94-100004C>A)
n.336-247651C>A
c.3139-15C>A (n.3139-15C>A)
c.2794-15C>A (n.2794-15C>A)
c.3034-15C>A (n.3034-15C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.32464715T>CCA2693396426DMDn.3370-16A>G
c.3163-16A>G (n.3163-16A>G)
c.3151-16A>G (n.3151-16A>G)
c.94-99516A>G (n.94-99516A>G)
c.94-100005A>G (n.94-100005A>G)
n.336-247652A>G
c.3139-16A>G (n.3139-16A>G)
c.2794-16A>G (n.2794-16A>G)
c.3034-16A>G (n.3034-16A>G)
 gnomAD v4
Xg.32464716delCA2579579893DMDn.3370-16del
c.3163-16del (n.3163-16del)
c.3151-16del (n.3151-16del)
c.94-99516del (n.94-99516del)
c.94-100005del (n.94-100005del)
n.336-247652del
c.3139-16del (n.3139-16del)
c.2794-16del (n.2794-16del)
c.3034-16del (n.3034-16del)
 gnomAD v4
Xg.32464717A=CA2422815849DMDn.3370-18T=
c.3163-18T= (n.3163-18T=)
c.3151-18T= (n.3151-18T=)
c.94-99518T= (n.94-99518T=)
c.94-100007T= (n.94-100007T=)
n.336-247654T=
c.3139-18T= (n.3139-18T=)
c.2794-18T= (n.2794-18T=)
c.3034-18T= (n.3034-18T=)
Xg.32464717A>GCA222372DMDn.3370-18T>C
c.3163-18T>C (n.3163-18T>C)
c.3151-18T>C (n.3151-18T>C)
c.94-99518T>C (n.94-99518T>C)
c.94-100007T>C (n.94-100007T>C)
n.336-247654T>C
c.3139-18T>C (n.3139-18T>C)
c.2794-18T>C (n.2794-18T>C)
c.3034-18T>C (n.3034-18T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464718T>CCA10379338DMDn.3370-19A>G
c.3163-19A>G (n.3163-19A>G)
c.3151-19A>G (n.3151-19A>G)
c.94-99519A>G (n.94-99519A>G)
c.94-100008A>G (n.94-100008A>G)
n.336-247655A>G
c.3139-19A>G (n.3139-19A>G)
c.2794-19A>G (n.2794-19A>G)
c.3034-19A>G (n.3034-19A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464718T>GCA2580100733DMDn.3370-19A>C
c.3163-19A>C (n.3163-19A>C)
c.3151-19A>C (n.3151-19A>C)
c.94-99519A>C (n.94-99519A>C)
c.94-100008A>C (n.94-100008A>C)
n.336-247655A>C
c.3139-19A>C (n.3139-19A>C)
c.2794-19A>C (n.2794-19A>C)
c.3034-19A>C (n.3034-19A>C)
 ClinVar
Xg.32464718T=CA2422815850DMDn.3370-19A=
c.3163-19A= (n.3163-19A=)
c.3151-19A= (n.3151-19A=)
c.94-99519A= (n.94-99519A=)
c.94-100008A= (n.94-100008A=)
n.336-247655A=
c.3139-19A= (n.3139-19A=)
c.2794-19A= (n.2794-19A=)
c.3034-19A= (n.3034-19A=)
Xg.32464719A>CCA2693396427DMDn.3370-20T>G
c.3163-20T>G (n.3163-20T>G)
c.3151-20T>G (n.3151-20T>G)
c.94-99520T>G (n.94-99520T>G)
c.94-100009T>G (n.94-100009T>G)
n.336-247656T>G
c.3139-20T>G (n.3139-20T>G)
c.2794-20T>G (n.2794-20T>G)
c.3034-20T>G (n.3034-20T>G)
 gnomAD v4
Xg.32464719A>GCA2693396428DMDn.3370-20T>C
c.3163-20T>C (n.3163-20T>C)
c.3151-20T>C (n.3151-20T>C)
c.94-99520T>C (n.94-99520T>C)
c.94-100009T>C (n.94-100009T>C)
n.336-247656T>C
c.3139-20T>C (n.3139-20T>C)
c.2794-20T>C (n.2794-20T>C)
c.3034-20T>C (n.3034-20T>C)
 gnomAD v4
Xg.32464720delCA2579579894DMDn.3370-20del
c.3163-20del (n.3163-20del)
c.3151-20del (n.3151-20del)
c.94-99520del (n.94-99520del)
c.94-100009del (n.94-100009del)
n.336-247656del
c.3139-20del (n.3139-20del)
c.2794-20del (n.2794-20del)
c.3034-20del (n.3034-20del)
Xg.32464721G>ACA10379339DMDn.3370-22C>T
c.3163-22C>T (n.3163-22C>T)
c.3151-22C>T (n.3151-22C>T)
c.94-99522C>T (n.94-99522C>T)
c.94-100011C>T (n.94-100011C>T)
n.336-247658C>T
c.3139-22C>T (n.3139-22C>T)
c.2794-22C>T (n.2794-22C>T)
c.3034-22C>T (n.3034-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464721G=CA2422815851DMDn.3370-22C=
c.3163-22C= (n.3163-22C=)
c.3151-22C= (n.3151-22C=)
c.94-99522C= (n.94-99522C=)
c.94-100011C= (n.94-100011C=)
n.336-247658C=
c.3139-22C= (n.3139-22C=)
c.2794-22C= (n.2794-22C=)
c.3034-22C= (n.3034-22C=)
Xg.32464721G>TCA2693396429DMDn.3370-22C>A
c.3163-22C>A (n.3163-22C>A)
c.3151-22C>A (n.3151-22C>A)
c.94-99522C>A (n.94-99522C>A)
c.94-100011C>A (n.94-100011C>A)
n.336-247658C>A
c.3139-22C>A (n.3139-22C>A)
c.2794-22C>A (n.2794-22C>A)
c.3034-22C>A (n.3034-22C>A)
 gnomAD v4
Xg.32464722G>CCA2557721447DMDn.3370-23C>G
c.3163-23C>G (n.3163-23C>G)
c.3151-23C>G (n.3151-23C>G)
c.94-99523C>G (n.94-99523C>G)
c.94-100012C>G (n.94-100012C>G)
n.336-247659C>G
c.3139-23C>G (n.3139-23C>G)
c.2794-23C>G (n.2794-23C>G)
c.3034-23C>G (n.3034-23C>G)
Xg.32464722G>TCA2693396430DMDn.3370-23C>A
c.3163-23C>A (n.3163-23C>A)
c.3151-23C>A (n.3151-23C>A)
c.94-99523C>A (n.94-99523C>A)
c.94-100012C>A (n.94-100012C>A)
n.336-247659C>A
c.3139-23C>A (n.3139-23C>A)
c.2794-23C>A (n.2794-23C>A)
c.3034-23C>A (n.3034-23C>A)
 gnomAD v4
Xg.32464723C=CA2422815852DMDn.3370-24G=
c.3163-24G= (n.3163-24G=)
c.3151-24G= (n.3151-24G=)
c.94-99524G= (n.94-99524G=)
c.94-100013G= (n.94-100013G=)
n.336-247660G=
c.3139-24G= (n.3139-24G=)
c.2794-24G= (n.2794-24G=)
c.3034-24G= (n.3034-24G=)
Xg.32464723C>TCA640971460DMDn.3370-24G>A
c.3163-24G>A (n.3163-24G>A)
c.3151-24G>A (n.3151-24G>A)
c.94-99524G>A (n.94-99524G>A)
c.94-100013G>A (n.94-100013G>A)
n.336-247660G>A
c.3139-24G>A (n.3139-24G>A)
c.2794-24G>A (n.2794-24G>A)
c.3034-24G>A (n.3034-24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464726T>ACA2579579895DMDn.3370-27A>T
c.3163-27A>T (n.3163-27A>T)
c.3151-27A>T (n.3151-27A>T)
c.94-99527A>T (n.94-99527A>T)
c.94-100016A>T (n.94-100016A>T)
n.336-247663A>T
c.3139-27A>T (n.3139-27A>T)
c.2794-27A>T (n.2794-27A>T)
c.3034-27A>T (n.3034-27A>T)
Xg.32464728C=CA2422815853DMDn.3370-29G=
c.3163-29G= (n.3163-29G=)
c.3151-29G= (n.3151-29G=)
c.94-99529G= (n.94-99529G=)
c.94-100018G= (n.94-100018G=)
n.336-247665G=
c.3139-29G= (n.3139-29G=)
c.2794-29G= (n.2794-29G=)
c.3034-29G= (n.3034-29G=)
Xg.32464728C>GCA10379340DMDn.3370-29G>C
c.3163-29G>C (n.3163-29G>C)
c.3151-29G>C (n.3151-29G>C)
c.94-99529G>C (n.94-99529G>C)
c.94-100018G>C (n.94-100018G>C)
n.336-247665G>C
c.3139-29G>C (n.3139-29G>C)
c.2794-29G>C (n.2794-29G>C)
c.3034-29G>C (n.3034-29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32464728C>TCA2422815854DMDn.3370-29G>A
c.3163-29G>A (n.3163-29G>A)
c.3151-29G>A (n.3151-29G>A)
c.94-99529G>A (n.94-99529G>A)
c.94-100018G>A (n.94-100018G>A)
n.336-247665G>A
c.3139-29G>A (n.3139-29G>A)
c.2794-29G>A (n.2794-29G>A)
c.3034-29G>A (n.3034-29G>A)
 dbSNP gnomAD v4

Number of alleles fetched