Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.31773212_31774154delinsTGGTGACA2580100588DMDc.2194_2388+748delinsTCACCA
c.-33_162+748delinsTCACCA
n.1009_1203+748delinsTCACCA
n.931_1125+748delinsTCACCA
n.840_1034+748delinsTCACCA
c.7348_7542+748delinsTCACCA
c.3316_3510+748delinsTCACCA
c.337_531+748delinsTCACCA
c.436_630+748delinsTCACCA
c.7336_7530+748delinsTCACCA
c.105_299+748delinsTCACCA
c.7333_7527+748delinsTCACCA
c.7345_7539+748delinsTCACCA
c.7324_7518+748delinsTCACCA
c.6979_7173+748delinsTCACCA
c.3325_3519+748delinsTCACCA
c.7219_7413+748delinsTCACCA
c.7210_7404+748delinsTCACCA
c.7225_7419+748delinsTCACCA
c.1522_1716+748delinsTCACCA
 ClinVar
Xg.31774056A>CCA515859341DMDc.2292T>G (p.Leu764=)
c.66T>G (p.Leu22=)
n.1107T>G
n.1029T>G
n.938T>G
c.7446T>G (p.Leu2482=)
c.3414T>G (p.Leu1138=)
c.435T>G (p.Leu145=)
c.534T>G (p.Leu178=)
c.7434T>G (p.Leu2478=)
c.203T>G (n.203T>G)
c.7431T>G (p.Leu2477=)
c.7443T>G (p.Leu2481=)
c.7422T>G (p.Leu2474=)
c.7077T>G (p.Leu2359=)
c.3423T>G (p.Leu1141=)
c.7317T>G (p.Leu2439=)
c.7308T>G (p.Leu2436=)
c.7323T>G (p.Leu2441=)
c.1620T>G (p.Leu540=)
Xg.31774056A>GCA515859343DMDc.2292T>C (p.Leu764=)
c.66T>C (p.Leu22=)
n.1107T>C
n.1029T>C
n.938T>C
c.7446T>C (p.Leu2482=)
c.3414T>C (p.Leu1138=)
c.435T>C (p.Leu145=)
c.534T>C (p.Leu178=)
c.7434T>C (p.Leu2478=)
c.203T>C (n.203T>C)
c.7431T>C (p.Leu2477=)
c.7443T>C (p.Leu2481=)
c.7422T>C (p.Leu2474=)
c.7077T>C (p.Leu2359=)
c.3423T>C (p.Leu1141=)
c.7317T>C (p.Leu2439=)
c.7308T>C (p.Leu2436=)
c.7323T>C (p.Leu2441=)
c.1620T>C (p.Leu540=)
Xg.31774056A>TCA515859342DMDc.2292T>A (p.Leu764=)
c.66T>A (p.Leu22=)
n.1107T>A
n.1029T>A
n.938T>A
c.7446T>A (p.Leu2482=)
c.3414T>A (p.Leu1138=)
c.435T>A (p.Leu145=)
c.534T>A (p.Leu178=)
c.7434T>A (p.Leu2478=)
c.203T>A (n.203T>A)
c.7431T>A (p.Leu2477=)
c.7443T>A (p.Leu2481=)
c.7422T>A (p.Leu2474=)
c.7077T>A (p.Leu2359=)
c.3423T>A (p.Leu1141=)
c.7317T>A (p.Leu2439=)
c.7308T>A (p.Leu2436=)
c.7323T>A (p.Leu2441=)
c.1620T>A (p.Leu540=)
Xg.31774057A>CCA412658912DMDc.2291T>G (p.Leu764Arg)
c.65T>G (p.Leu22Arg)
n.1106T>G
n.1028T>G
n.937T>G
c.7445T>G (p.Leu2482Arg)
c.3413T>G (p.Leu1138Arg)
c.434T>G (p.Leu145Arg)
c.533T>G (p.Leu178Arg)
c.7433T>G (p.Leu2478Arg)
c.202T>G (n.202T>G)
c.7430T>G (p.Leu2477Arg)
c.7442T>G (p.Leu2481Arg)
c.7421T>G (p.Leu2474Arg)
c.7076T>G (p.Leu2359Arg)
c.3422T>G (p.Leu1141Arg)
c.7316T>G (p.Leu2439Arg)
c.7307T>G (p.Leu2436Arg)
c.7322T>G (p.Leu2441Arg)
c.1619T>G (p.Leu540Arg)
Xg.31774057A>GCA412658913DMDc.2291T>C (p.Leu764Pro)
c.65T>C (p.Leu22Pro)
n.1106T>C
n.1028T>C
n.937T>C
c.7445T>C (p.Leu2482Pro)
c.3413T>C (p.Leu1138Pro)
c.434T>C (p.Leu145Pro)
c.533T>C (p.Leu178Pro)
c.7433T>C (p.Leu2478Pro)
c.202T>C (n.202T>C)
c.7430T>C (p.Leu2477Pro)
c.7442T>C (p.Leu2481Pro)
c.7421T>C (p.Leu2474Pro)
c.7076T>C (p.Leu2359Pro)
c.3422T>C (p.Leu1141Pro)
c.7316T>C (p.Leu2439Pro)
c.7307T>C (p.Leu2436Pro)
c.7322T>C (p.Leu2441Pro)
c.1619T>C (p.Leu540Pro)
Xg.31774057A>TCA412658914DMDc.2291T>A (p.Leu764His)
c.65T>A (p.Leu22His)
n.1106T>A
n.1028T>A
n.937T>A
c.7445T>A (p.Leu2482His)
c.3413T>A (p.Leu1138His)
c.434T>A (p.Leu145His)
c.533T>A (p.Leu178His)
c.7433T>A (p.Leu2478His)
c.202T>A (n.202T>A)
c.7430T>A (p.Leu2477His)
c.7442T>A (p.Leu2481His)
c.7421T>A (p.Leu2474His)
c.7076T>A (p.Leu2359His)
c.3422T>A (p.Leu1141His)
c.7316T>A (p.Leu2439His)
c.7307T>A (p.Leu2436His)
c.7322T>A (p.Leu2441His)
c.1619T>A (p.Leu540His)
Xg.31774057_31774058delinsAGCA2422548641DMDc.2290_2291delinsCT (p.Leu764=)
c.64_65delinsCT (p.Leu22=)
n.1105_1106delinsCT
n.1027_1028delinsCT
n.936_937delinsCT
c.7444_7445delinsCT (p.Leu2482=)
c.3412_3413delinsCT (p.Leu1138=)
c.433_434delinsCT (p.Leu145=)
c.532_533delinsCT (p.Leu178=)
c.7432_7433delinsCT (p.Leu2478=)
c.201_202delinsCT (n.201_202delinsCT)
c.7429_7430delinsCT (p.Leu2477=)
c.7441_7442delinsCT (p.Leu2481=)
c.7420_7421delinsCT (p.Leu2474=)
c.7075_7076delinsCT (p.Leu2359=)
c.3421_3422delinsCT (p.Leu1141=)
c.7315_7316delinsCT (p.Leu2439=)
c.7306_7307delinsCT (p.Leu2436=)
c.7321_7322delinsCT (p.Leu2441=)
c.1618_1619delinsCT (p.Leu540=)
Xg.31774058delCA275314DMDc.2290del (p.Thr765ProfsTer11)
c.64del (p.Thr23ProfsTer11)
n.1105del
n.1027del
n.936del
c.7444del (p.Thr2483ProfsTer11)
c.3412del (p.Thr1139ProfsTer11)
c.433del (p.Thr146ProfsTer11)
c.532del (p.Thr179ProfsTer11)
c.7432del (p.Thr2479ProfsTer11)
c.201del (n.201del)
c.7429del (p.Thr2478ProfsTer11)
c.7441del (p.Thr2482ProfsTer11)
c.7420del (p.Thr2475ProfsTer11)
c.7075del (p.Thr2360ProfsTer11)
c.3421del (p.Thr1142ProfsTer11)
c.7315del (p.Thr2440ProfsTer11)
c.7306del (p.Thr2437ProfsTer11)
c.7321del (p.Thr2442ProfsTer11)
c.1618del (p.Thr541ProfsTer11)
 ClinVar dbSNP
Xg.31774058G>ACA412658915DMDc.2290C>T (p.Leu764Phe)
c.64C>T (p.Leu22Phe)
n.1105C>T
n.1027C>T
n.936C>T
c.7444C>T (p.Leu2482Phe)
c.3412C>T (p.Leu1138Phe)
c.433C>T (p.Leu145Phe)
c.532C>T (p.Leu178Phe)
c.7432C>T (p.Leu2478Phe)
c.201C>T (n.201C>T)
c.7429C>T (p.Leu2477Phe)
c.7441C>T (p.Leu2481Phe)
c.7420C>T (p.Leu2474Phe)
c.7075C>T (p.Leu2359Phe)
c.3421C>T (p.Leu1141Phe)
c.7315C>T (p.Leu2439Phe)
c.7306C>T (p.Leu2436Phe)
c.7321C>T (p.Leu2441Phe)
c.1618C>T (p.Leu540Phe)
Xg.31774058G>CCA412658916DMDc.2290C>G (p.Leu764Val)
c.64C>G (p.Leu22Val)
n.1105C>G
n.1027C>G
n.936C>G
c.7444C>G (p.Leu2482Val)
c.3412C>G (p.Leu1138Val)
c.433C>G (p.Leu145Val)
c.532C>G (p.Leu178Val)
c.7432C>G (p.Leu2478Val)
c.201C>G (n.201C>G)
c.7429C>G (p.Leu2477Val)
c.7441C>G (p.Leu2481Val)
c.7420C>G (p.Leu2474Val)
c.7075C>G (p.Leu2359Val)
c.3421C>G (p.Leu1141Val)
c.7315C>G (p.Leu2439Val)
c.7306C>G (p.Leu2436Val)
c.7321C>G (p.Leu2441Val)
c.1618C>G (p.Leu540Val)
Xg.31774058G>TCA412658917DMDc.2290C>A (p.Leu764Ile)
c.64C>A (p.Leu22Ile)
n.1105C>A
n.1027C>A
n.936C>A
c.7444C>A (p.Leu2482Ile)
c.3412C>A (p.Leu1138Ile)
c.433C>A (p.Leu145Ile)
c.532C>A (p.Leu178Ile)
c.7432C>A (p.Leu2478Ile)
c.201C>A (n.201C>A)
c.7429C>A (p.Leu2477Ile)
c.7441C>A (p.Leu2481Ile)
c.7420C>A (p.Leu2474Ile)
c.7075C>A (p.Leu2359Ile)
c.3421C>A (p.Leu1141Ile)
c.7315C>A (p.Leu2439Ile)
c.7306C>A (p.Leu2436Ile)
c.7321C>A (p.Leu2441Ile)
c.1618C>A (p.Leu540Ile)
Xg.31774059T>ACA412658918DMDc.2289A>T (p.Glu763Asp)
c.63A>T (p.Glu21Asp)
n.1104A>T
n.1026A>T
n.935A>T
c.7443A>T (p.Glu2481Asp)
c.3411A>T (p.Glu1137Asp)
c.432A>T (p.Glu144Asp)
c.531A>T (p.Glu177Asp)
c.7431A>T (p.Glu2477Asp)
c.200A>T (n.200A>T)
c.7428A>T (p.Glu2476Asp)
c.7440A>T (p.Glu2480Asp)
c.7419A>T (p.Glu2473Asp)
c.7074A>T (p.Glu2358Asp)
c.3420A>T (p.Glu1140Asp)
c.7314A>T (p.Glu2438Asp)
c.7305A>T (p.Glu2435Asp)
c.7320A>T (p.Glu2440Asp)
c.1617A>T (p.Glu539Asp)
Xg.31774059T>CCA515859344DMDc.2289A>G (p.Glu763=)
c.63A>G (p.Glu21=)
n.1104A>G
n.1026A>G
n.935A>G
c.7443A>G (p.Glu2481=)
c.3411A>G (p.Glu1137=)
c.432A>G (p.Glu144=)
c.531A>G (p.Glu177=)
c.7431A>G (p.Glu2477=)
c.200A>G (n.200A>G)
c.7428A>G (p.Glu2476=)
c.7440A>G (p.Glu2480=)
c.7419A>G (p.Glu2473=)
c.7074A>G (p.Glu2358=)
c.3420A>G (p.Glu1140=)
c.7314A>G (p.Glu2438=)
c.7305A>G (p.Glu2435=)
c.7320A>G (p.Glu2440=)
c.1617A>G (p.Glu539=)
 ClinVar
Xg.31774059T>GCA412658919DMDc.2289A>C (p.Glu763Asp)
c.63A>C (p.Glu21Asp)
n.1104A>C
n.1026A>C
n.935A>C
c.7443A>C (p.Glu2481Asp)
c.3411A>C (p.Glu1137Asp)
c.432A>C (p.Glu144Asp)
c.531A>C (p.Glu177Asp)
c.7431A>C (p.Glu2477Asp)
c.200A>C (n.200A>C)
c.7428A>C (p.Glu2476Asp)
c.7440A>C (p.Glu2480Asp)
c.7419A>C (p.Glu2473Asp)
c.7074A>C (p.Glu2358Asp)
c.3420A>C (p.Glu1140Asp)
c.7314A>C (p.Glu2438Asp)
c.7305A>C (p.Glu2435Asp)
c.7320A>C (p.Glu2440Asp)
c.1617A>C (p.Glu539Asp)
Xg.31774060T>ACA412658920DMDc.2288A>T (p.Glu763Val)
c.62A>T (p.Glu21Val)
n.1103A>T
n.1025A>T
n.934A>T
c.7442A>T (p.Glu2481Val)
c.3410A>T (p.Glu1137Val)
c.431A>T (p.Glu144Val)
c.530A>T (p.Glu177Val)
c.7430A>T (p.Glu2477Val)
c.199A>T (n.199A>T)
c.7427A>T (p.Glu2476Val)
c.7439A>T (p.Glu2480Val)
c.7418A>T (p.Glu2473Val)
c.7073A>T (p.Glu2358Val)
c.3419A>T (p.Glu1140Val)
c.7313A>T (p.Glu2438Val)
c.7304A>T (p.Glu2435Val)
c.7319A>T (p.Glu2440Val)
c.1616A>T (p.Glu539Val)
Xg.31774060T>CCA10378277DMDc.2288A>G (p.Glu763Gly)
c.62A>G (p.Glu21Gly)
n.1103A>G
n.1025A>G
n.934A>G
c.7442A>G (p.Glu2481Gly)
c.3410A>G (p.Glu1137Gly)
c.431A>G (p.Glu144Gly)
c.530A>G (p.Glu177Gly)
c.7430A>G (p.Glu2477Gly)
c.199A>G (n.199A>G)
c.7427A>G (p.Glu2476Gly)
c.7439A>G (p.Glu2480Gly)
c.7418A>G (p.Glu2473Gly)
c.7073A>G (p.Glu2358Gly)
c.3419A>G (p.Glu1140Gly)
c.7313A>G (p.Glu2438Gly)
c.7304A>G (p.Glu2435Gly)
c.7319A>G (p.Glu2440Gly)
c.1616A>G (p.Glu539Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774060T>GCA412658921DMDc.2288A>C (p.Glu763Ala)
c.62A>C (p.Glu21Ala)
n.1103A>C
n.1025A>C
n.934A>C
c.7442A>C (p.Glu2481Ala)
c.3410A>C (p.Glu1137Ala)
c.431A>C (p.Glu144Ala)
c.530A>C (p.Glu177Ala)
c.7430A>C (p.Glu2477Ala)
c.199A>C (n.199A>C)
c.7427A>C (p.Glu2476Ala)
c.7439A>C (p.Glu2480Ala)
c.7418A>C (p.Glu2473Ala)
c.7073A>C (p.Glu2358Ala)
c.3419A>C (p.Glu1140Ala)
c.7313A>C (p.Glu2438Ala)
c.7304A>C (p.Glu2435Ala)
c.7319A>C (p.Glu2440Ala)
c.1616A>C (p.Glu539Ala)
Xg.31774060T=CA2422548642DMDc.2288A= (p.Glu763=)
c.62A= (p.Glu21=)
n.1103A=
n.1025A=
n.934A=
c.7442A= (p.Glu2481=)
c.3410A= (p.Glu1137=)
c.431A= (p.Glu144=)
c.530A= (p.Glu177=)
c.7430A= (p.Glu2477=)
c.199A= (n.199A=)
c.7427A= (p.Glu2476=)
c.7439A= (p.Glu2480=)
c.7418A= (p.Glu2473=)
c.7073A= (p.Glu2358=)
c.3419A= (p.Glu1140=)
c.7313A= (p.Glu2438=)
c.7304A= (p.Glu2435=)
c.7319A= (p.Glu2440=)
c.1616A= (p.Glu539=)
Xg.31774061delCA2695232444DMDc.2287del (p.Glu763AsnfsTer13)
c.61del (p.Glu21AsnfsTer13)
n.1102del
n.1024del
n.933del
c.7441del (p.Glu2481AsnfsTer13)
c.3409del (p.Glu1137AsnfsTer13)
c.430del (p.Glu144AsnfsTer13)
c.529del (p.Glu177AsnfsTer13)
c.7429del (p.Glu2477AsnfsTer13)
c.198del (n.198del)
c.7426del (p.Glu2476AsnfsTer13)
c.7438del (p.Glu2480AsnfsTer13)
c.7417del (p.Glu2473AsnfsTer13)
c.7072del (p.Glu2358AsnfsTer13)
c.3418del (p.Glu1140AsnfsTer13)
c.7312del (p.Glu2438AsnfsTer13)
c.7303del (p.Glu2435AsnfsTer13)
c.7318del (p.Glu2440AsnfsTer13)
c.1615del (p.Glu539AsnfsTer13)
Xg.31774061C>ACA412658924DMDc.2287G>T (p.Glu763Ter)
c.61G>T (p.Glu21Ter)
n.1102G>T
n.1024G>T
n.933G>T
c.7441G>T (p.Glu2481Ter)
c.3409G>T (p.Glu1137Ter)
c.430G>T (p.Glu144Ter)
c.529G>T (p.Glu177Ter)
c.7429G>T (p.Glu2477Ter)
c.198G>T (n.198G>T)
c.7426G>T (p.Glu2476Ter)
c.7438G>T (p.Glu2480Ter)
c.7417G>T (p.Glu2473Ter)
c.7072G>T (p.Glu2358Ter)
c.3418G>T (p.Glu1140Ter)
c.7312G>T (p.Glu2438Ter)
c.7303G>T (p.Glu2435Ter)
c.7318G>T (p.Glu2440Ter)
c.1615G>T (p.Glu539Ter)
Xg.31774061C>GCA412658922DMDc.2287G>C (p.Glu763Gln)
c.61G>C (p.Glu21Gln)
n.1102G>C
n.1024G>C
n.933G>C
c.7441G>C (p.Glu2481Gln)
c.3409G>C (p.Glu1137Gln)
c.430G>C (p.Glu144Gln)
c.529G>C (p.Glu177Gln)
c.7429G>C (p.Glu2477Gln)
c.198G>C (n.198G>C)
c.7426G>C (p.Glu2476Gln)
c.7438G>C (p.Glu2480Gln)
c.7417G>C (p.Glu2473Gln)
c.7072G>C (p.Glu2358Gln)
c.3418G>C (p.Glu1140Gln)
c.7312G>C (p.Glu2438Gln)
c.7303G>C (p.Glu2435Gln)
c.7318G>C (p.Glu2440Gln)
c.1615G>C (p.Glu539Gln)
Xg.31774061C>TCA412658923DMDc.2287G>A (p.Glu763Lys)
c.61G>A (p.Glu21Lys)
n.1102G>A
n.1024G>A
n.933G>A
c.7441G>A (p.Glu2481Lys)
c.3409G>A (p.Glu1137Lys)
c.430G>A (p.Glu144Lys)
c.529G>A (p.Glu177Lys)
c.7429G>A (p.Glu2477Lys)
c.198G>A (n.198G>A)
c.7426G>A (p.Glu2476Lys)
c.7438G>A (p.Glu2480Lys)
c.7417G>A (p.Glu2473Lys)
c.7072G>A (p.Glu2358Lys)
c.3418G>A (p.Glu1140Lys)
c.7312G>A (p.Glu2438Lys)
c.7303G>A (p.Glu2435Lys)
c.7318G>A (p.Glu2440Lys)
c.1615G>A (p.Glu539Lys)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774062T>ACA515859345DMDc.2286A>T (p.Thr762=)
c.60A>T (p.Thr20=)
n.1101A>T
n.1023A>T
n.932A>T
c.7440A>T (p.Thr2480=)
c.3408A>T (p.Thr1136=)
c.429A>T (p.Thr143=)
c.528A>T (p.Thr176=)
c.7428A>T (p.Thr2476=)
c.197A>T (n.197A>T)
c.7425A>T (p.Thr2475=)
c.7437A>T (p.Thr2479=)
c.7416A>T (p.Thr2472=)
c.7071A>T (p.Thr2357=)
c.3417A>T (p.Thr1139=)
c.7311A>T (p.Thr2437=)
c.7302A>T (p.Thr2434=)
c.7317A>T (p.Thr2439=)
c.1614A>T (p.Thr538=)
Xg.31774062T>CCA515859347DMDc.2286A>G (p.Thr762=)
c.60A>G (p.Thr20=)
n.1101A>G
n.1023A>G
n.932A>G
c.7440A>G (p.Thr2480=)
c.3408A>G (p.Thr1136=)
c.429A>G (p.Thr143=)
c.528A>G (p.Thr176=)
c.7428A>G (p.Thr2476=)
c.197A>G (n.197A>G)
c.7425A>G (p.Thr2475=)
c.7437A>G (p.Thr2479=)
c.7416A>G (p.Thr2472=)
c.7071A>G (p.Thr2357=)
c.3417A>G (p.Thr1139=)
c.7311A>G (p.Thr2437=)
c.7302A>G (p.Thr2434=)
c.7317A>G (p.Thr2439=)
c.1614A>G (p.Thr538=)
 ClinVar dbSNP gnomAD v4
Xg.31774062T>GCA515859346DMDc.2286A>C (p.Thr762=)
c.60A>C (p.Thr20=)
n.1101A>C
n.1023A>C
n.932A>C
c.7440A>C (p.Thr2480=)
c.3408A>C (p.Thr1136=)
c.429A>C (p.Thr143=)
c.528A>C (p.Thr176=)
c.7428A>C (p.Thr2476=)
c.197A>C (n.197A>C)
c.7425A>C (p.Thr2475=)
c.7437A>C (p.Thr2479=)
c.7416A>C (p.Thr2472=)
c.7071A>C (p.Thr2357=)
c.3417A>C (p.Thr1139=)
c.7311A>C (p.Thr2437=)
c.7302A>C (p.Thr2434=)
c.7317A>C (p.Thr2439=)
c.1614A>C (p.Thr538=)
Xg.31774063G>ACA412658925DMDc.2285C>T (p.Thr762Ile)
c.59C>T (p.Thr20Ile)
n.1100C>T
n.1022C>T
n.931C>T
c.7439C>T (p.Thr2480Ile)
c.3407C>T (p.Thr1136Ile)
c.428C>T (p.Thr143Ile)
c.527C>T (p.Thr176Ile)
c.7427C>T (p.Thr2476Ile)
c.196C>T (n.196C>T)
c.7424C>T (p.Thr2475Ile)
c.7436C>T (p.Thr2479Ile)
c.7415C>T (p.Thr2472Ile)
c.7070C>T (p.Thr2357Ile)
c.3416C>T (p.Thr1139Ile)
c.7310C>T (p.Thr2437Ile)
c.7301C>T (p.Thr2434Ile)
c.7316C>T (p.Thr2439Ile)
c.1613C>T (p.Thr538Ile)
Xg.31774063G>CCA412658926DMDc.2285C>G (p.Thr762Arg)
c.59C>G (p.Thr20Arg)
n.1100C>G
n.1022C>G
n.931C>G
c.7439C>G (p.Thr2480Arg)
c.3407C>G (p.Thr1136Arg)
c.428C>G (p.Thr143Arg)
c.527C>G (p.Thr176Arg)
c.7427C>G (p.Thr2476Arg)
c.196C>G (n.196C>G)
c.7424C>G (p.Thr2475Arg)
c.7436C>G (p.Thr2479Arg)
c.7415C>G (p.Thr2472Arg)
c.7070C>G (p.Thr2357Arg)
c.3416C>G (p.Thr1139Arg)
c.7310C>G (p.Thr2437Arg)
c.7301C>G (p.Thr2434Arg)
c.7316C>G (p.Thr2439Arg)
c.1613C>G (p.Thr538Arg)
Xg.31774063G>TCA412658927DMDc.2285C>A (p.Thr762Lys)
c.59C>A (p.Thr20Lys)
n.1100C>A
n.1022C>A
n.931C>A
c.7439C>A (p.Thr2480Lys)
c.3407C>A (p.Thr1136Lys)
c.428C>A (p.Thr143Lys)
c.527C>A (p.Thr176Lys)
c.7427C>A (p.Thr2476Lys)
c.196C>A (n.196C>A)
c.7424C>A (p.Thr2475Lys)
c.7436C>A (p.Thr2479Lys)
c.7415C>A (p.Thr2472Lys)
c.7070C>A (p.Thr2357Lys)
c.3416C>A (p.Thr1139Lys)
c.7310C>A (p.Thr2437Lys)
c.7301C>A (p.Thr2434Lys)
c.7316C>A (p.Thr2439Lys)
c.1613C>A (p.Thr538Lys)
Xg.31774064T>ACA412658928DMDc.2284A>T (p.Thr762Ser)
c.58A>T (p.Thr20Ser)
n.1099A>T
n.1021A>T
n.930A>T
c.7438A>T (p.Thr2480Ser)
c.3406A>T (p.Thr1136Ser)
c.427A>T (p.Thr143Ser)
c.526A>T (p.Thr176Ser)
c.7426A>T (p.Thr2476Ser)
c.195A>T (n.195A>T)
c.7423A>T (p.Thr2475Ser)
c.7435A>T (p.Thr2479Ser)
c.7414A>T (p.Thr2472Ser)
c.7069A>T (p.Thr2357Ser)
c.3415A>T (p.Thr1139Ser)
c.7309A>T (p.Thr2437Ser)
c.7300A>T (p.Thr2434Ser)
c.7315A>T (p.Thr2439Ser)
c.1612A>T (p.Thr538Ser)
Xg.31774064T>CCA412658929DMDc.2284A>G (p.Thr762Ala)
c.58A>G (p.Thr20Ala)
n.1099A>G
n.1021A>G
n.930A>G
c.7438A>G (p.Thr2480Ala)
c.3406A>G (p.Thr1136Ala)
c.427A>G (p.Thr143Ala)
c.526A>G (p.Thr176Ala)
c.7426A>G (p.Thr2476Ala)
c.195A>G (n.195A>G)
c.7423A>G (p.Thr2475Ala)
c.7435A>G (p.Thr2479Ala)
c.7414A>G (p.Thr2472Ala)
c.7069A>G (p.Thr2357Ala)
c.3415A>G (p.Thr1139Ala)
c.7309A>G (p.Thr2437Ala)
c.7300A>G (p.Thr2434Ala)
c.7315A>G (p.Thr2439Ala)
c.1612A>G (p.Thr538Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774064T>GCA412658930DMDc.2284A>C (p.Thr762Pro)
c.58A>C (p.Thr20Pro)
n.1099A>C
n.1021A>C
n.930A>C
c.7438A>C (p.Thr2480Pro)
c.3406A>C (p.Thr1136Pro)
c.427A>C (p.Thr143Pro)
c.526A>C (p.Thr176Pro)
c.7426A>C (p.Thr2476Pro)
c.195A>C (n.195A>C)
c.7423A>C (p.Thr2475Pro)
c.7435A>C (p.Thr2479Pro)
c.7414A>C (p.Thr2472Pro)
c.7069A>C (p.Thr2357Pro)
c.3415A>C (p.Thr1139Pro)
c.7309A>C (p.Thr2437Pro)
c.7300A>C (p.Thr2434Pro)
c.7315A>C (p.Thr2439Pro)
c.1612A>C (p.Thr538Pro)
Xg.31774064T=CA2422548643DMDc.2284A= (p.Thr762=)
c.58A= (p.Thr20=)
n.1099A=
n.1021A=
n.930A=
c.7438A= (p.Thr2480=)
c.3406A= (p.Thr1136=)
c.427A= (p.Thr143=)
c.526A= (p.Thr176=)
c.7426A= (p.Thr2476=)
c.195A= (n.195A=)
c.7423A= (p.Thr2475=)
c.7435A= (p.Thr2479=)
c.7414A= (p.Thr2472=)
c.7069A= (p.Thr2357=)
c.3415A= (p.Thr1139=)
c.7309A= (p.Thr2437=)
c.7300A= (p.Thr2434=)
c.7315A= (p.Thr2439=)
c.1612A= (p.Thr538=)
Xg.31774065C>ACA412658931DMDc.2283G>T (p.Trp761Cys)
c.57G>T (p.Trp19Cys)
n.1098G>T
n.1020G>T
n.929G>T
c.7437G>T (p.Trp2479Cys)
c.3405G>T (p.Trp1135Cys)
c.426G>T (p.Trp142Cys)
c.525G>T (p.Trp175Cys)
c.7425G>T (p.Trp2475Cys)
c.194G>T (n.194G>T)
c.7422G>T (p.Trp2474Cys)
c.7434G>T (p.Trp2478Cys)
c.7413G>T (p.Trp2471Cys)
c.7068G>T (p.Trp2356Cys)
c.3414G>T (p.Trp1138Cys)
c.7308G>T (p.Trp2436Cys)
c.7299G>T (p.Trp2433Cys)
c.7314G>T (p.Trp2438Cys)
c.1611G>T (p.Trp537Cys)
Xg.31774065C>GCA412658932DMDc.2283G>C (p.Trp761Cys)
c.57G>C (p.Trp19Cys)
n.1098G>C
n.1020G>C
n.929G>C
c.7437G>C (p.Trp2479Cys)
c.3405G>C (p.Trp1135Cys)
c.426G>C (p.Trp142Cys)
c.525G>C (p.Trp175Cys)
c.7425G>C (p.Trp2475Cys)
c.194G>C (n.194G>C)
c.7422G>C (p.Trp2474Cys)
c.7434G>C (p.Trp2478Cys)
c.7413G>C (p.Trp2471Cys)
c.7068G>C (p.Trp2356Cys)
c.3414G>C (p.Trp1138Cys)
c.7308G>C (p.Trp2436Cys)
c.7299G>C (p.Trp2433Cys)
c.7314G>C (p.Trp2438Cys)
c.1611G>C (p.Trp537Cys)
Xg.31774065C>TCA412658933DMDc.2283G>A (p.Trp761Ter)
c.57G>A (p.Trp19Ter)
n.1098G>A
n.1020G>A
n.929G>A
c.7437G>A (p.Trp2479Ter)
c.3405G>A (p.Trp1135Ter)
c.426G>A (p.Trp142Ter)
c.525G>A (p.Trp175Ter)
c.7425G>A (p.Trp2475Ter)
c.194G>A (n.194G>A)
c.7422G>A (p.Trp2474Ter)
c.7434G>A (p.Trp2478Ter)
c.7413G>A (p.Trp2471Ter)
c.7068G>A (p.Trp2356Ter)
c.3414G>A (p.Trp1138Ter)
c.7308G>A (p.Trp2436Ter)
c.7299G>A (p.Trp2433Ter)
c.7314G>A (p.Trp2438Ter)
c.1611G>A (p.Trp537Ter)
 ClinVar dbSNP
Xg.31774066C>ACA412658934DMDc.2282G>T (p.Trp761Leu)
c.56G>T (p.Trp19Leu)
n.1097G>T
n.1019G>T
n.928G>T
c.7436G>T (p.Trp2479Leu)
c.3404G>T (p.Trp1135Leu)
c.425G>T (p.Trp142Leu)
c.524G>T (p.Trp175Leu)
c.7424G>T (p.Trp2475Leu)
c.193G>T (n.193G>T)
c.7421G>T (p.Trp2474Leu)
c.7433G>T (p.Trp2478Leu)
c.7412G>T (p.Trp2471Leu)
c.7067G>T (p.Trp2356Leu)
c.3413G>T (p.Trp1138Leu)
c.7307G>T (p.Trp2436Leu)
c.7298G>T (p.Trp2433Leu)
c.7313G>T (p.Trp2438Leu)
c.1610G>T (p.Trp537Leu)
Xg.31774066C>GCA412658935DMDc.2282G>C (p.Trp761Ser)
c.56G>C (p.Trp19Ser)
n.1097G>C
n.1019G>C
n.928G>C
c.7436G>C (p.Trp2479Ser)
c.3404G>C (p.Trp1135Ser)
c.425G>C (p.Trp142Ser)
c.524G>C (p.Trp175Ser)
c.7424G>C (p.Trp2475Ser)
c.193G>C (n.193G>C)
c.7421G>C (p.Trp2474Ser)
c.7433G>C (p.Trp2478Ser)
c.7412G>C (p.Trp2471Ser)
c.7067G>C (p.Trp2356Ser)
c.3413G>C (p.Trp1138Ser)
c.7307G>C (p.Trp2436Ser)
c.7298G>C (p.Trp2433Ser)
c.7313G>C (p.Trp2438Ser)
c.1610G>C (p.Trp537Ser)
Xg.31774066C>TCA412658936DMDc.2282G>A (p.Trp761Ter)
c.56G>A (p.Trp19Ter)
n.1097G>A
n.1019G>A
n.928G>A
c.7436G>A (p.Trp2479Ter)
c.3404G>A (p.Trp1135Ter)
c.425G>A (p.Trp142Ter)
c.524G>A (p.Trp175Ter)
c.7424G>A (p.Trp2475Ter)
c.193G>A (n.193G>A)
c.7421G>A (p.Trp2474Ter)
c.7433G>A (p.Trp2478Ter)
c.7412G>A (p.Trp2471Ter)
c.7067G>A (p.Trp2356Ter)
c.3413G>A (p.Trp1138Ter)
c.7307G>A (p.Trp2436Ter)
c.7298G>A (p.Trp2433Ter)
c.7313G>A (p.Trp2438Ter)
c.1610G>A (p.Trp537Ter)
Xg.31774067A=CA2422548644DMDc.2281T= (p.Trp761=)
c.55T= (p.Trp19=)
n.1096T=
n.1018T=
n.927T=
c.7435T= (p.Trp2479=)
c.3403T= (p.Trp1135=)
c.424T= (p.Trp142=)
c.523T= (p.Trp175=)
c.7423T= (p.Trp2475=)
c.192T= (n.192T=)
c.7420T= (p.Trp2474=)
c.7432T= (p.Trp2478=)
c.7411T= (p.Trp2471=)
c.7066T= (p.Trp2356=)
c.3412T= (p.Trp1138=)
c.7306T= (p.Trp2436=)
c.7297T= (p.Trp2433=)
c.7312T= (p.Trp2438=)
c.1609T= (p.Trp537=)
Xg.31774067A>CCA412658939DMDc.2281T>G (p.Trp761Gly)
c.55T>G (p.Trp19Gly)
n.1096T>G
n.1018T>G
n.927T>G
c.7435T>G (p.Trp2479Gly)
c.3403T>G (p.Trp1135Gly)
c.424T>G (p.Trp142Gly)
c.523T>G (p.Trp175Gly)
c.7423T>G (p.Trp2475Gly)
c.192T>G (n.192T>G)
c.7420T>G (p.Trp2474Gly)
c.7432T>G (p.Trp2478Gly)
c.7411T>G (p.Trp2471Gly)
c.7066T>G (p.Trp2356Gly)
c.3412T>G (p.Trp1138Gly)
c.7306T>G (p.Trp2436Gly)
c.7297T>G (p.Trp2433Gly)
c.7312T>G (p.Trp2438Gly)
c.1609T>G (p.Trp537Gly)
Xg.31774067A>GCA412658938DMDc.2281T>C (p.Trp761Arg)
c.55T>C (p.Trp19Arg)
n.1096T>C
n.1018T>C
n.927T>C
c.7435T>C (p.Trp2479Arg)
c.3403T>C (p.Trp1135Arg)
c.424T>C (p.Trp142Arg)
c.523T>C (p.Trp175Arg)
c.7423T>C (p.Trp2475Arg)
c.192T>C (n.192T>C)
c.7420T>C (p.Trp2474Arg)
c.7432T>C (p.Trp2478Arg)
c.7411T>C (p.Trp2471Arg)
c.7066T>C (p.Trp2356Arg)
c.3412T>C (p.Trp1138Arg)
c.7306T>C (p.Trp2436Arg)
c.7297T>C (p.Trp2433Arg)
c.7312T>C (p.Trp2438Arg)
c.1609T>C (p.Trp537Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774067A>TCA412658937DMDc.2281T>A (p.Trp761Arg)
c.55T>A (p.Trp19Arg)
n.1096T>A
n.1018T>A
n.927T>A
c.7435T>A (p.Trp2479Arg)
c.3403T>A (p.Trp1135Arg)
c.424T>A (p.Trp142Arg)
c.523T>A (p.Trp175Arg)
c.7423T>A (p.Trp2475Arg)
c.192T>A (n.192T>A)
c.7420T>A (p.Trp2474Arg)
c.7432T>A (p.Trp2478Arg)
c.7411T>A (p.Trp2471Arg)
c.7066T>A (p.Trp2356Arg)
c.3412T>A (p.Trp1138Arg)
c.7306T>A (p.Trp2436Arg)
c.7297T>A (p.Trp2433Arg)
c.7312T>A (p.Trp2438Arg)
c.1609T>A (p.Trp537Arg)
Xg.31774068A>CCA515859348DMDc.2280T>G (p.Ala760=)
c.54T>G (p.Ala18=)
n.1095T>G
n.1017T>G
n.926T>G
c.7434T>G (p.Ala2478=)
c.3402T>G (p.Ala1134=)
c.423T>G (p.Ala141=)
c.522T>G (p.Ala174=)
c.7422T>G (p.Ala2474=)
c.191T>G (n.191T>G)
c.7419T>G (p.Ala2473=)
c.7431T>G (p.Ala2477=)
c.7410T>G (p.Ala2470=)
c.7065T>G (p.Ala2355=)
c.3411T>G (p.Ala1137=)
c.7305T>G (p.Ala2435=)
c.7296T>G (p.Ala2432=)
c.7311T>G (p.Ala2437=)
c.1608T>G (p.Ala536=)
Xg.31774068A>GCA515859349DMDc.2280T>C (p.Ala760=)
c.54T>C (p.Ala18=)
n.1095T>C
n.1017T>C
n.926T>C
c.7434T>C (p.Ala2478=)
c.3402T>C (p.Ala1134=)
c.423T>C (p.Ala141=)
c.522T>C (p.Ala174=)
c.7422T>C (p.Ala2474=)
c.191T>C (n.191T>C)
c.7419T>C (p.Ala2473=)
c.7431T>C (p.Ala2477=)
c.7410T>C (p.Ala2470=)
c.7065T>C (p.Ala2355=)
c.3411T>C (p.Ala1137=)
c.7305T>C (p.Ala2435=)
c.7296T>C (p.Ala2432=)
c.7311T>C (p.Ala2437=)
c.1608T>C (p.Ala536=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774068A>TCA515859350DMDc.2280T>A (p.Ala760=)
c.54T>A (p.Ala18=)
n.1095T>A
n.1017T>A
n.926T>A
c.7434T>A (p.Ala2478=)
c.3402T>A (p.Ala1134=)
c.423T>A (p.Ala141=)
c.522T>A (p.Ala174=)
c.7422T>A (p.Ala2474=)
c.191T>A (n.191T>A)
c.7419T>A (p.Ala2473=)
c.7431T>A (p.Ala2477=)
c.7410T>A (p.Ala2470=)
c.7065T>A (p.Ala2355=)
c.3411T>A (p.Ala1137=)
c.7305T>A (p.Ala2435=)
c.7296T>A (p.Ala2432=)
c.7311T>A (p.Ala2437=)
c.1608T>A (p.Ala536=)
Xg.31774068_31774071delinsTGCA2695232446DMDc.2277_2280delinsCA (p.Ala760MetfsTer12)
c.51_54delinsCA (p.Ala18MetfsTer12)
n.1092_1095delinsCA
n.1014_1017delinsCA
n.923_926delinsCA
c.7431_7434delinsCA (p.Ala2478MetfsTer12)
c.3399_3402delinsCA (p.Ala1134MetfsTer12)
c.420_423delinsCA (p.Ala141MetfsTer12)
c.519_522delinsCA (p.Ala174MetfsTer12)
c.7419_7422delinsCA (p.Ala2474MetfsTer12)
c.188_191delinsCA (n.188_191delinsCA)
c.7416_7419delinsCA (p.Ala2473MetfsTer12)
c.7428_7431delinsCA (p.Ala2477MetfsTer12)
c.7407_7410delinsCA (p.Ala2470MetfsTer12)
c.7062_7065delinsCA (p.Ala2355MetfsTer12)
c.3408_3411delinsCA (p.Ala1137MetfsTer12)
c.7302_7305delinsCA (p.Ala2435MetfsTer12)
c.7293_7296delinsCA (p.Ala2432MetfsTer12)
c.7308_7311delinsCA (p.Ala2437MetfsTer12)
c.1605_1608delinsCA (p.Ala536MetfsTer12)
Xg.31774069G>ACA328470493DMDc.2279C>T (p.Ala760Val)
c.53C>T (p.Ala18Val)
n.1094C>T
n.1016C>T
n.925C>T
c.7433C>T (p.Ala2478Val)
c.3401C>T (p.Ala1134Val)
c.422C>T (p.Ala141Val)
c.521C>T (p.Ala174Val)
c.7421C>T (p.Ala2474Val)
c.190C>T (n.190C>T)
c.7418C>T (p.Ala2473Val)
c.7430C>T (p.Ala2477Val)
c.7409C>T (p.Ala2470Val)
c.7064C>T (p.Ala2355Val)
c.3410C>T (p.Ala1137Val)
c.7304C>T (p.Ala2435Val)
c.7295C>T (p.Ala2432Val)
c.7310C>T (p.Ala2437Val)
c.1607C>T (p.Ala536Val)
 dbSNP gnomAD v4
Xg.31774069G>CCA412658940DMDc.2279C>G (p.Ala760Gly)
c.53C>G (p.Ala18Gly)
n.1094C>G
n.1016C>G
n.925C>G
c.7433C>G (p.Ala2478Gly)
c.3401C>G (p.Ala1134Gly)
c.422C>G (p.Ala141Gly)
c.521C>G (p.Ala174Gly)
c.7421C>G (p.Ala2474Gly)
c.190C>G (n.190C>G)
c.7418C>G (p.Ala2473Gly)
c.7430C>G (p.Ala2477Gly)
c.7409C>G (p.Ala2470Gly)
c.7064C>G (p.Ala2355Gly)
c.3410C>G (p.Ala1137Gly)
c.7304C>G (p.Ala2435Gly)
c.7295C>G (p.Ala2432Gly)
c.7310C>G (p.Ala2437Gly)
c.1607C>G (p.Ala536Gly)
Xg.31774069G=CA2422548645DMDc.2279C= (p.Ala760=)
c.53C= (p.Ala18=)
n.1094C=
n.1016C=
n.925C=
c.7433C= (p.Ala2478=)
c.3401C= (p.Ala1134=)
c.422C= (p.Ala141=)
c.521C= (p.Ala174=)
c.7421C= (p.Ala2474=)
c.190C= (n.190C=)
c.7418C= (p.Ala2473=)
c.7430C= (p.Ala2477=)
c.7409C= (p.Ala2470=)
c.7064C= (p.Ala2355=)
c.3410C= (p.Ala1137=)
c.7304C= (p.Ala2435=)
c.7295C= (p.Ala2432=)
c.7310C= (p.Ala2437=)
c.1607C= (p.Ala536=)
Xg.31774069G>TCA412658941DMDc.2279C>A (p.Ala760Asp)
c.53C>A (p.Ala18Asp)
n.1094C>A
n.1016C>A
n.925C>A
c.7433C>A (p.Ala2478Asp)
c.3401C>A (p.Ala1134Asp)
c.422C>A (p.Ala141Asp)
c.521C>A (p.Ala174Asp)
c.7421C>A (p.Ala2474Asp)
c.190C>A (n.190C>A)
c.7418C>A (p.Ala2473Asp)
c.7430C>A (p.Ala2477Asp)
c.7409C>A (p.Ala2470Asp)
c.7064C>A (p.Ala2355Asp)
c.3410C>A (p.Ala1137Asp)
c.7304C>A (p.Ala2435Asp)
c.7295C>A (p.Ala2432Asp)
c.7310C>A (p.Ala2437Asp)
c.1607C>A (p.Ala536Asp)
Xg.31774070C>ACA412658942DMDc.2278G>T (p.Ala760Ser)
c.52G>T (p.Ala18Ser)
n.1093G>T
n.1015G>T
n.924G>T
c.7432G>T (p.Ala2478Ser)
c.3400G>T (p.Ala1134Ser)
c.421G>T (p.Ala141Ser)
c.520G>T (p.Ala174Ser)
c.7420G>T (p.Ala2474Ser)
c.189G>T (n.189G>T)
c.7417G>T (p.Ala2473Ser)
c.7429G>T (p.Ala2477Ser)
c.7408G>T (p.Ala2470Ser)
c.7063G>T (p.Ala2355Ser)
c.3409G>T (p.Ala1137Ser)
c.7303G>T (p.Ala2435Ser)
c.7294G>T (p.Ala2432Ser)
c.7309G>T (p.Ala2437Ser)
c.1606G>T (p.Ala536Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774070C=CA2422548646DMDc.2278G= (p.Ala760=)
c.52G= (p.Ala18=)
n.1093G=
n.1015G=
n.924G=
c.7432G= (p.Ala2478=)
c.3400G= (p.Ala1134=)
c.421G= (p.Ala141=)
c.520G= (p.Ala174=)
c.7420G= (p.Ala2474=)
c.189G= (n.189G=)
c.7417G= (p.Ala2473=)
c.7429G= (p.Ala2477=)
c.7408G= (p.Ala2470=)
c.7063G= (p.Ala2355=)
c.3409G= (p.Ala1137=)
c.7303G= (p.Ala2435=)
c.7294G= (p.Ala2432=)
c.7309G= (p.Ala2437=)
c.1606G= (p.Ala536=)
Xg.31774070C>GCA412658943DMDc.2278G>C (p.Ala760Pro)
c.52G>C (p.Ala18Pro)
n.1093G>C
n.1015G>C
n.924G>C
c.7432G>C (p.Ala2478Pro)
c.3400G>C (p.Ala1134Pro)
c.421G>C (p.Ala141Pro)
c.520G>C (p.Ala174Pro)
c.7420G>C (p.Ala2474Pro)
c.189G>C (n.189G>C)
c.7417G>C (p.Ala2473Pro)
c.7429G>C (p.Ala2477Pro)
c.7408G>C (p.Ala2470Pro)
c.7063G>C (p.Ala2355Pro)
c.3409G>C (p.Ala1137Pro)
c.7303G>C (p.Ala2435Pro)
c.7294G>C (p.Ala2432Pro)
c.7309G>C (p.Ala2437Pro)
c.1606G>C (p.Ala536Pro)
 gnomAD v4
Xg.31774070C>TCA412658944DMDc.2278G>A (p.Ala760Thr)
c.52G>A (p.Ala18Thr)
n.1093G>A
n.1015G>A
n.924G>A
c.7432G>A (p.Ala2478Thr)
c.3400G>A (p.Ala1134Thr)
c.421G>A (p.Ala141Thr)
c.520G>A (p.Ala174Thr)
c.7420G>A (p.Ala2474Thr)
c.189G>A (n.189G>A)
c.7417G>A (p.Ala2473Thr)
c.7429G>A (p.Ala2477Thr)
c.7408G>A (p.Ala2470Thr)
c.7063G>A (p.Ala2355Thr)
c.3409G>A (p.Ala1137Thr)
c.7303G>A (p.Ala2435Thr)
c.7294G>A (p.Ala2432Thr)
c.7309G>A (p.Ala2437Thr)
c.1606G>A (p.Ala536Thr)
 gnomAD v4
Xg.31774071C>ACA515859353DMDc.2277G>T (p.Arg759=)
c.51G>T (p.Arg17=)
n.1092G>T
n.1014G>T
n.923G>T
c.7431G>T (p.Arg2477=)
c.3399G>T (p.Arg1133=)
c.420G>T (p.Arg140=)
c.519G>T (p.Arg173=)
c.7419G>T (p.Arg2473=)
c.188G>T (n.188G>T)
c.7416G>T (p.Arg2472=)
c.7428G>T (p.Arg2476=)
c.7407G>T (p.Arg2469=)
c.7062G>T (p.Arg2354=)
c.3408G>T (p.Arg1136=)
c.7302G>T (p.Arg2434=)
c.7293G>T (p.Arg2431=)
c.7308G>T (p.Arg2436=)
c.1605G>T (p.Arg535=)
Xg.31774071C>GCA515859352DMDc.2277G>C (p.Arg759=)
c.51G>C (p.Arg17=)
n.1092G>C
n.1014G>C
n.923G>C
c.7431G>C (p.Arg2477=)
c.3399G>C (p.Arg1133=)
c.420G>C (p.Arg140=)
c.519G>C (p.Arg173=)
c.7419G>C (p.Arg2473=)
c.188G>C (n.188G>C)
c.7416G>C (p.Arg2472=)
c.7428G>C (p.Arg2476=)
c.7407G>C (p.Arg2469=)
c.7062G>C (p.Arg2354=)
c.3408G>C (p.Arg1136=)
c.7302G>C (p.Arg2434=)
c.7293G>C (p.Arg2431=)
c.7308G>C (p.Arg2436=)
c.1605G>C (p.Arg535=)
Xg.31774071C>TCA515859351DMDc.2277G>A (p.Arg759=)
c.51G>A (p.Arg17=)
n.1092G>A
n.1014G>A
n.923G>A
c.7431G>A (p.Arg2477=)
c.3399G>A (p.Arg1133=)
c.420G>A (p.Arg140=)
c.519G>A (p.Arg173=)
c.7419G>A (p.Arg2473=)
c.188G>A (n.188G>A)
c.7416G>A (p.Arg2472=)
c.7428G>A (p.Arg2476=)
c.7407G>A (p.Arg2469=)
c.7062G>A (p.Arg2354=)
c.3408G>A (p.Arg1136=)
c.7302G>A (p.Arg2434=)
c.7293G>A (p.Arg2431=)
c.7308G>A (p.Arg2436=)
c.1605G>A (p.Arg535=)
 ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774072C>ACA412658945DMDc.2276G>T (p.Arg759Leu)
c.50G>T (p.Arg17Leu)
n.1091G>T
n.1013G>T
n.922G>T
c.7430G>T (p.Arg2477Leu)
c.3398G>T (p.Arg1133Leu)
c.419G>T (p.Arg140Leu)
c.518G>T (p.Arg173Leu)
c.7418G>T (p.Arg2473Leu)
c.187G>T (n.187G>T)
c.7415G>T (p.Arg2472Leu)
c.7427G>T (p.Arg2476Leu)
c.7406G>T (p.Arg2469Leu)
c.7061G>T (p.Arg2354Leu)
c.3407G>T (p.Arg1136Leu)
c.7301G>T (p.Arg2434Leu)
c.7292G>T (p.Arg2431Leu)
c.7307G>T (p.Arg2436Leu)
c.1604G>T (p.Arg535Leu)
Xg.31774072C=CA2422548647DMDc.2276G= (p.Arg759=)
c.50G= (p.Arg17=)
n.1091G=
n.1013G=
n.922G=
c.7430G= (p.Arg2477=)
c.3398G= (p.Arg1133=)
c.419G= (p.Arg140=)
c.518G= (p.Arg173=)
c.7418G= (p.Arg2473=)
c.187G= (n.187G=)
c.7415G= (p.Arg2472=)
c.7427G= (p.Arg2476=)
c.7406G= (p.Arg2469=)
c.7061G= (p.Arg2354=)
c.3407G= (p.Arg1136=)
c.7301G= (p.Arg2434=)
c.7292G= (p.Arg2431=)
c.7307G= (p.Arg2436=)
c.1604G= (p.Arg535=)
Xg.31774072C>GCA412658946DMDc.2276G>C (p.Arg759Pro)
c.50G>C (p.Arg17Pro)
n.1091G>C
n.1013G>C
n.922G>C
c.7430G>C (p.Arg2477Pro)
c.3398G>C (p.Arg1133Pro)
c.419G>C (p.Arg140Pro)
c.518G>C (p.Arg173Pro)
c.7418G>C (p.Arg2473Pro)
c.187G>C (n.187G>C)
c.7415G>C (p.Arg2472Pro)
c.7427G>C (p.Arg2476Pro)
c.7406G>C (p.Arg2469Pro)
c.7061G>C (p.Arg2354Pro)
c.3407G>C (p.Arg1136Pro)
c.7301G>C (p.Arg2434Pro)
c.7292G>C (p.Arg2431Pro)
c.7307G>C (p.Arg2436Pro)
c.1604G>C (p.Arg535Pro)
Xg.31774072C>TCA10378278DMDc.2276G>A (p.Arg759Gln)
c.50G>A (p.Arg17Gln)
n.1091G>A
n.1013G>A
n.922G>A
c.7430G>A (p.Arg2477Gln)
c.3398G>A (p.Arg1133Gln)
c.419G>A (p.Arg140Gln)
c.518G>A (p.Arg173Gln)
c.7418G>A (p.Arg2473Gln)
c.187G>A (n.187G>A)
c.7415G>A (p.Arg2472Gln)
c.7427G>A (p.Arg2476Gln)
c.7406G>A (p.Arg2469Gln)
c.7061G>A (p.Arg2354Gln)
c.3407G>A (p.Arg1136Gln)
c.7301G>A (p.Arg2434Gln)
c.7292G>A (p.Arg2431Gln)
c.7307G>A (p.Arg2436Gln)
c.1604G>A (p.Arg535Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774073G>ACA10378279DMDc.2275C>T (p.Arg759Trp)
c.49C>T (p.Arg17Trp)
n.1090C>T
n.1012C>T
n.921C>T
c.7429C>T (p.Arg2477Trp)
c.3397C>T (p.Arg1133Trp)
c.418C>T (p.Arg140Trp)
c.517C>T (p.Arg173Trp)
c.7417C>T (p.Arg2473Trp)
c.186C>T (n.186C>T)
c.7414C>T (p.Arg2472Trp)
c.7426C>T (p.Arg2476Trp)
c.7405C>T (p.Arg2469Trp)
c.7060C>T (p.Arg2354Trp)
c.3406C>T (p.Arg1136Trp)
c.7300C>T (p.Arg2434Trp)
c.7291C>T (p.Arg2431Trp)
c.7306C>T (p.Arg2436Trp)
c.1603C>T (p.Arg535Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774073G>CCA412658947DMDc.2275C>G (p.Arg759Gly)
c.49C>G (p.Arg17Gly)
n.1090C>G
n.1012C>G
n.921C>G
c.7429C>G (p.Arg2477Gly)
c.3397C>G (p.Arg1133Gly)
c.418C>G (p.Arg140Gly)
c.517C>G (p.Arg173Gly)
c.7417C>G (p.Arg2473Gly)
c.186C>G (n.186C>G)
c.7414C>G (p.Arg2472Gly)
c.7426C>G (p.Arg2476Gly)
c.7405C>G (p.Arg2469Gly)
c.7060C>G (p.Arg2354Gly)
c.3406C>G (p.Arg1136Gly)
c.7300C>G (p.Arg2434Gly)
c.7291C>G (p.Arg2431Gly)
c.7306C>G (p.Arg2436Gly)
c.1603C>G (p.Arg535Gly)
Xg.31774073G=CA2422548648DMDc.2275C= (p.Arg759=)
c.49C= (p.Arg17=)
n.1090C=
n.1012C=
n.921C=
c.7429C= (p.Arg2477=)
c.3397C= (p.Arg1133=)
c.418C= (p.Arg140=)
c.517C= (p.Arg173=)
c.7417C= (p.Arg2473=)
c.186C= (n.186C=)
c.7414C= (p.Arg2472=)
c.7426C= (p.Arg2476=)
c.7405C= (p.Arg2469=)
c.7060C= (p.Arg2354=)
c.3406C= (p.Arg1136=)
c.7300C= (p.Arg2434=)
c.7291C= (p.Arg2431=)
c.7306C= (p.Arg2436=)
c.1603C= (p.Arg535=)
Xg.31774073G>TCA515859354DMDc.2275C>A (p.Arg759=)
c.49C>A (p.Arg17=)
n.1090C>A
n.1012C>A
n.921C>A
c.7429C>A (p.Arg2477=)
c.3397C>A (p.Arg1133=)
c.418C>A (p.Arg140=)
c.517C>A (p.Arg173=)
c.7417C>A (p.Arg2473=)
c.186C>A (n.186C>A)
c.7414C>A (p.Arg2472=)
c.7426C>A (p.Arg2476=)
c.7405C>A (p.Arg2469=)
c.7060C>A (p.Arg2354=)
c.3406C>A (p.Arg1136=)
c.7300C>A (p.Arg2434=)
c.7291C>A (p.Arg2431=)
c.7306C>A (p.Arg2436=)
c.1603C>A (p.Arg535=)
Xg.31774074G>ACA515859355DMDc.2274C>T (p.Asn758=)
c.48C>T (p.Asn16=)
n.1089C>T
n.1011C>T
n.920C>T
c.7428C>T (p.Asn2476=)
c.3396C>T (p.Asn1132=)
c.417C>T (p.Asn139=)
c.516C>T (p.Asn172=)
c.7416C>T (p.Asn2472=)
c.185C>T (n.185C>T)
c.7413C>T (p.Asn2471=)
c.7425C>T (p.Asn2475=)
c.7404C>T (p.Asn2468=)
c.7059C>T (p.Asn2353=)
c.3405C>T (p.Asn1135=)
c.7299C>T (p.Asn2433=)
c.7290C>T (p.Asn2430=)
c.7305C>T (p.Asn2435=)
c.1602C>T (p.Asn534=)
Xg.31774074G>CCA412658948DMDc.2274C>G (p.Asn758Lys)
c.48C>G (p.Asn16Lys)
n.1089C>G
n.1011C>G
n.920C>G
c.7428C>G (p.Asn2476Lys)
c.3396C>G (p.Asn1132Lys)
c.417C>G (p.Asn139Lys)
c.516C>G (p.Asn172Lys)
c.7416C>G (p.Asn2472Lys)
c.185C>G (n.185C>G)
c.7413C>G (p.Asn2471Lys)
c.7425C>G (p.Asn2475Lys)
c.7404C>G (p.Asn2468Lys)
c.7059C>G (p.Asn2353Lys)
c.3405C>G (p.Asn1135Lys)
c.7299C>G (p.Asn2433Lys)
c.7290C>G (p.Asn2430Lys)
c.7305C>G (p.Asn2435Lys)
c.1602C>G (p.Asn534Lys)
 gnomAD v4
Xg.31774074G>TCA412658949DMDc.2274C>A (p.Asn758Lys)
c.48C>A (p.Asn16Lys)
n.1089C>A
n.1011C>A
n.920C>A
c.7428C>A (p.Asn2476Lys)
c.3396C>A (p.Asn1132Lys)
c.417C>A (p.Asn139Lys)
c.516C>A (p.Asn172Lys)
c.7416C>A (p.Asn2472Lys)
c.185C>A (n.185C>A)
c.7413C>A (p.Asn2471Lys)
c.7425C>A (p.Asn2475Lys)
c.7404C>A (p.Asn2468Lys)
c.7059C>A (p.Asn2353Lys)
c.3405C>A (p.Asn1135Lys)
c.7299C>A (p.Asn2433Lys)
c.7290C>A (p.Asn2430Lys)
c.7305C>A (p.Asn2435Lys)
c.1602C>A (p.Asn534Lys)
Xg.31774075T>ACA412658950DMDc.2273A>T (p.Asn758Ile)
c.47A>T (p.Asn16Ile)
n.1088A>T
n.1010A>T
n.919A>T
c.7427A>T (p.Asn2476Ile)
c.3395A>T (p.Asn1132Ile)
c.416A>T (p.Asn139Ile)
c.515A>T (p.Asn172Ile)
c.7415A>T (p.Asn2472Ile)
c.184A>T (n.184A>T)
c.7412A>T (p.Asn2471Ile)
c.7424A>T (p.Asn2475Ile)
c.7403A>T (p.Asn2468Ile)
c.7058A>T (p.Asn2353Ile)
c.3404A>T (p.Asn1135Ile)
c.7298A>T (p.Asn2433Ile)
c.7289A>T (p.Asn2430Ile)
c.7304A>T (p.Asn2435Ile)
c.1601A>T (p.Asn534Ile)
Xg.31774075T>CCA10378280DMDc.2273A>G (p.Asn758Ser)
c.47A>G (p.Asn16Ser)
n.1088A>G
n.1010A>G
n.919A>G
c.7427A>G (p.Asn2476Ser)
c.3395A>G (p.Asn1132Ser)
c.416A>G (p.Asn139Ser)
c.515A>G (p.Asn172Ser)
c.7415A>G (p.Asn2472Ser)
c.184A>G (n.184A>G)
c.7412A>G (p.Asn2471Ser)
c.7424A>G (p.Asn2475Ser)
c.7403A>G (p.Asn2468Ser)
c.7058A>G (p.Asn2353Ser)
c.3404A>G (p.Asn1135Ser)
c.7298A>G (p.Asn2433Ser)
c.7289A>G (p.Asn2430Ser)
c.7304A>G (p.Asn2435Ser)
c.1601A>G (p.Asn534Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774075T>GCA412658951DMDc.2273A>C (p.Asn758Thr)
c.47A>C (p.Asn16Thr)
n.1088A>C
n.1010A>C
n.919A>C
c.7427A>C (p.Asn2476Thr)
c.3395A>C (p.Asn1132Thr)
c.416A>C (p.Asn139Thr)
c.515A>C (p.Asn172Thr)
c.7415A>C (p.Asn2472Thr)
c.184A>C (n.184A>C)
c.7412A>C (p.Asn2471Thr)
c.7424A>C (p.Asn2475Thr)
c.7403A>C (p.Asn2468Thr)
c.7058A>C (p.Asn2353Thr)
c.3404A>C (p.Asn1135Thr)
c.7298A>C (p.Asn2433Thr)
c.7289A>C (p.Asn2430Thr)
c.7304A>C (p.Asn2435Thr)
c.1601A>C (p.Asn534Thr)
Xg.31774075T=CA2422548649DMDc.2273A= (p.Asn758=)
c.47A= (p.Asn16=)
n.1088A=
n.1010A=
n.919A=
c.7427A= (p.Asn2476=)
c.3395A= (p.Asn1132=)
c.416A= (p.Asn139=)
c.515A= (p.Asn172=)
c.7415A= (p.Asn2472=)
c.184A= (n.184A=)
c.7412A= (p.Asn2471=)
c.7424A= (p.Asn2475=)
c.7403A= (p.Asn2468=)
c.7058A= (p.Asn2353=)
c.3404A= (p.Asn1135=)
c.7298A= (p.Asn2433=)
c.7289A= (p.Asn2430=)
c.7304A= (p.Asn2435=)
c.1601A= (p.Asn534=)
Xg.31774076delCA2580100605DMDc.2273del (p.Asn758ThrfsTer18)
c.47del (p.Asn16ThrfsTer18)
n.1088del
n.1010del
n.919del
c.7427del (p.Asn2476ThrfsTer18)
c.3395del (p.Asn1132ThrfsTer18)
c.416del (p.Asn139ThrfsTer18)
c.515del (p.Asn172ThrfsTer18)
c.7415del (p.Asn2472ThrfsTer18)
c.184del (n.184del)
c.7412del (p.Asn2471ThrfsTer18)
c.7424del (p.Asn2475ThrfsTer18)
c.7403del (p.Asn2468ThrfsTer18)
c.7058del (p.Asn2353ThrfsTer18)
c.3404del (p.Asn1135ThrfsTer18)
c.7298del (p.Asn2433ThrfsTer18)
c.7289del (p.Asn2430ThrfsTer18)
c.7304del (p.Asn2435ThrfsTer18)
c.1601del (p.Asn534ThrfsTer18)
 ClinVar
Xg.31774076T>ACA412658952DMDc.2272A>T (p.Asn758Tyr)
c.46A>T (p.Asn16Tyr)
n.1087A>T
n.1009A>T
n.918A>T
c.7426A>T (p.Asn2476Tyr)
c.3394A>T (p.Asn1132Tyr)
c.415A>T (p.Asn139Tyr)
c.514A>T (p.Asn172Tyr)
c.7414A>T (p.Asn2472Tyr)
c.183A>T (n.183A>T)
c.7411A>T (p.Asn2471Tyr)
c.7423A>T (p.Asn2475Tyr)
c.7402A>T (p.Asn2468Tyr)
c.7057A>T (p.Asn2353Tyr)
c.3403A>T (p.Asn1135Tyr)
c.7297A>T (p.Asn2433Tyr)
c.7288A>T (p.Asn2430Tyr)
c.7303A>T (p.Asn2435Tyr)
c.1600A>T (p.Asn534Tyr)
Xg.31774076T>CCA412658954DMDc.2272A>G (p.Asn758Asp)
c.46A>G (p.Asn16Asp)
n.1087A>G
n.1009A>G
n.918A>G
c.7426A>G (p.Asn2476Asp)
c.3394A>G (p.Asn1132Asp)
c.415A>G (p.Asn139Asp)
c.514A>G (p.Asn172Asp)
c.7414A>G (p.Asn2472Asp)
c.183A>G (n.183A>G)
c.7411A>G (p.Asn2471Asp)
c.7423A>G (p.Asn2475Asp)
c.7402A>G (p.Asn2468Asp)
c.7057A>G (p.Asn2353Asp)
c.3403A>G (p.Asn1135Asp)
c.7297A>G (p.Asn2433Asp)
c.7288A>G (p.Asn2430Asp)
c.7303A>G (p.Asn2435Asp)
c.1600A>G (p.Asn534Asp)
Xg.31774076T>GCA412658953DMDc.2272A>C (p.Asn758His)
c.46A>C (p.Asn16His)
n.1087A>C
n.1009A>C
n.918A>C
c.7426A>C (p.Asn2476His)
c.3394A>C (p.Asn1132His)
c.415A>C (p.Asn139His)
c.514A>C (p.Asn172His)
c.7414A>C (p.Asn2472His)
c.183A>C (n.183A>C)
c.7411A>C (p.Asn2471His)
c.7423A>C (p.Asn2475His)
c.7402A>C (p.Asn2468His)
c.7057A>C (p.Asn2353His)
c.3403A>C (p.Asn1135His)
c.7297A>C (p.Asn2433His)
c.7288A>C (p.Asn2430His)
c.7303A>C (p.Asn2435His)
c.1600A>C (p.Asn534His)
Xg.31774077delCA2695232447DMDc.2271del (p.Phe757LeufsTer19)
c.45del (p.Phe15LeufsTer19)
n.1086del
n.1008del
n.917del
c.7425del (p.Phe2475LeufsTer19)
c.3393del (p.Phe1131LeufsTer19)
c.414del (p.Phe138LeufsTer19)
c.513del (p.Phe171LeufsTer19)
c.7413del (p.Phe2471LeufsTer19)
c.182del (n.182del)
c.7410del (p.Phe2470LeufsTer19)
c.7422del (p.Phe2474LeufsTer19)
c.7401del (p.Phe2467LeufsTer19)
c.7056del (p.Phe2352LeufsTer19)
c.3402del (p.Phe1134LeufsTer19)
c.7296del (p.Phe2432LeufsTer19)
c.7287del (p.Phe2429LeufsTer19)
c.7302del (p.Phe2434LeufsTer19)
c.1599del (p.Phe533LeufsTer19)
Xg.31774077G>ACA515859356DMDc.2271C>T (p.Phe757=)
c.45C>T (p.Phe15=)
n.1086C>T
n.1008C>T
n.917C>T
c.7425C>T (p.Phe2475=)
c.3393C>T (p.Phe1131=)
c.414C>T (p.Phe138=)
c.513C>T (p.Phe171=)
c.7413C>T (p.Phe2471=)
c.182C>T (n.182C>T)
c.7410C>T (p.Phe2470=)
c.7422C>T (p.Phe2474=)
c.7401C>T (p.Phe2467=)
c.7056C>T (p.Phe2352=)
c.3402C>T (p.Phe1134=)
c.7296C>T (p.Phe2432=)
c.7287C>T (p.Phe2429=)
c.7302C>T (p.Phe2434=)
c.1599C>T (p.Phe533=)
Xg.31774077G>CCA412658955DMDc.2271C>G (p.Phe757Leu)
c.45C>G (p.Phe15Leu)
n.1086C>G
n.1008C>G
n.917C>G
c.7425C>G (p.Phe2475Leu)
c.3393C>G (p.Phe1131Leu)
c.414C>G (p.Phe138Leu)
c.513C>G (p.Phe171Leu)
c.7413C>G (p.Phe2471Leu)
c.182C>G (n.182C>G)
c.7410C>G (p.Phe2470Leu)
c.7422C>G (p.Phe2474Leu)
c.7401C>G (p.Phe2467Leu)
c.7056C>G (p.Phe2352Leu)
c.3402C>G (p.Phe1134Leu)
c.7296C>G (p.Phe2432Leu)
c.7287C>G (p.Phe2429Leu)
c.7302C>G (p.Phe2434Leu)
c.1599C>G (p.Phe533Leu)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774077G>TCA412658956DMDc.2271C>A (p.Phe757Leu)
c.45C>A (p.Phe15Leu)
n.1086C>A
n.1008C>A
n.917C>A
c.7425C>A (p.Phe2475Leu)
c.3393C>A (p.Phe1131Leu)
c.414C>A (p.Phe138Leu)
c.513C>A (p.Phe171Leu)
c.7413C>A (p.Phe2471Leu)
c.182C>A (n.182C>A)
c.7410C>A (p.Phe2470Leu)
c.7422C>A (p.Phe2474Leu)
c.7401C>A (p.Phe2467Leu)
c.7056C>A (p.Phe2352Leu)
c.3402C>A (p.Phe1134Leu)
c.7296C>A (p.Phe2432Leu)
c.7287C>A (p.Phe2429Leu)
c.7302C>A (p.Phe2434Leu)
c.1599C>A (p.Phe533Leu)
 gnomAD v4
Xg.31774078A=CA2422548650DMDc.2270T= (p.Phe757=)
c.44T= (p.Phe15=)
n.1085T=
n.1007T=
n.916T=
c.7424T= (p.Phe2475=)
c.3392T= (p.Phe1131=)
c.413T= (p.Phe138=)
c.512T= (p.Phe171=)
c.7412T= (p.Phe2471=)
c.181T= (n.181T=)
c.7409T= (p.Phe2470=)
c.7421T= (p.Phe2474=)
c.7400T= (p.Phe2467=)
c.7055T= (p.Phe2352=)
c.3401T= (p.Phe1134=)
c.7295T= (p.Phe2432=)
c.7286T= (p.Phe2429=)
c.7301T= (p.Phe2434=)
c.1598T= (p.Phe533=)
Xg.31774078A>CCA412658957DMDc.2270T>G (p.Phe757Cys)
c.44T>G (p.Phe15Cys)
n.1085T>G
n.1007T>G
n.916T>G
c.7424T>G (p.Phe2475Cys)
c.3392T>G (p.Phe1131Cys)
c.413T>G (p.Phe138Cys)
c.512T>G (p.Phe171Cys)
c.7412T>G (p.Phe2471Cys)
c.181T>G (n.181T>G)
c.7409T>G (p.Phe2470Cys)
c.7421T>G (p.Phe2474Cys)
c.7400T>G (p.Phe2467Cys)
c.7055T>G (p.Phe2352Cys)
c.3401T>G (p.Phe1134Cys)
c.7295T>G (p.Phe2432Cys)
c.7286T>G (p.Phe2429Cys)
c.7301T>G (p.Phe2434Cys)
c.1598T>G (p.Phe533Cys)
Xg.31774078A>GCA412658958DMDc.2270T>C (p.Phe757Ser)
c.44T>C (p.Phe15Ser)
n.1085T>C
n.1007T>C
n.916T>C
c.7424T>C (p.Phe2475Ser)
c.3392T>C (p.Phe1131Ser)
c.413T>C (p.Phe138Ser)
c.512T>C (p.Phe171Ser)
c.7412T>C (p.Phe2471Ser)
c.181T>C (n.181T>C)
c.7409T>C (p.Phe2470Ser)
c.7421T>C (p.Phe2474Ser)
c.7400T>C (p.Phe2467Ser)
c.7055T>C (p.Phe2352Ser)
c.3401T>C (p.Phe1134Ser)
c.7295T>C (p.Phe2432Ser)
c.7286T>C (p.Phe2429Ser)
c.7301T>C (p.Phe2434Ser)
c.1598T>C (p.Phe533Ser)
Xg.31774078A>TCA412658959DMDc.2270T>A (p.Phe757Tyr)
c.44T>A (p.Phe15Tyr)
n.1085T>A
n.1007T>A
n.916T>A
c.7424T>A (p.Phe2475Tyr)
c.3392T>A (p.Phe1131Tyr)
c.413T>A (p.Phe138Tyr)
c.512T>A (p.Phe171Tyr)
c.7412T>A (p.Phe2471Tyr)
c.181T>A (n.181T>A)
c.7409T>A (p.Phe2470Tyr)
c.7421T>A (p.Phe2474Tyr)
c.7400T>A (p.Phe2467Tyr)
c.7055T>A (p.Phe2352Tyr)
c.3401T>A (p.Phe1134Tyr)
c.7295T>A (p.Phe2432Tyr)
c.7286T>A (p.Phe2429Tyr)
c.7301T>A (p.Phe2434Tyr)
c.1598T>A (p.Phe533Tyr)
 dbSNP
Xg.31774079A>CCA412658960DMDc.2269T>G (p.Phe757Val)
c.43T>G (p.Phe15Val)
n.1084T>G
n.1006T>G
n.915T>G
c.7423T>G (p.Phe2475Val)
c.3391T>G (p.Phe1131Val)
c.412T>G (p.Phe138Val)
c.511T>G (p.Phe171Val)
c.7411T>G (p.Phe2471Val)
c.180T>G (n.180T>G)
c.7408T>G (p.Phe2470Val)
c.7420T>G (p.Phe2474Val)
c.7399T>G (p.Phe2467Val)
c.7054T>G (p.Phe2352Val)
c.3400T>G (p.Phe1134Val)
c.7294T>G (p.Phe2432Val)
c.7285T>G (p.Phe2429Val)
c.7300T>G (p.Phe2434Val)
c.1597T>G (p.Phe533Val)
Xg.31774079A>GCA412658961DMDc.2269T>C (p.Phe757Leu)
c.43T>C (p.Phe15Leu)
n.1084T>C
n.1006T>C
n.915T>C
c.7423T>C (p.Phe2475Leu)
c.3391T>C (p.Phe1131Leu)
c.412T>C (p.Phe138Leu)
c.511T>C (p.Phe171Leu)
c.7411T>C (p.Phe2471Leu)
c.180T>C (n.180T>C)
c.7408T>C (p.Phe2470Leu)
c.7420T>C (p.Phe2474Leu)
c.7399T>C (p.Phe2467Leu)
c.7054T>C (p.Phe2352Leu)
c.3400T>C (p.Phe1134Leu)
c.7294T>C (p.Phe2432Leu)
c.7285T>C (p.Phe2429Leu)
c.7300T>C (p.Phe2434Leu)
c.1597T>C (p.Phe533Leu)
Xg.31774079A>TCA412658962DMDc.2269T>A (p.Phe757Ile)
c.43T>A (p.Phe15Ile)
n.1084T>A
n.1006T>A
n.915T>A
c.7423T>A (p.Phe2475Ile)
c.3391T>A (p.Phe1131Ile)
c.412T>A (p.Phe138Ile)
c.511T>A (p.Phe171Ile)
c.7411T>A (p.Phe2471Ile)
c.180T>A (n.180T>A)
c.7408T>A (p.Phe2470Ile)
c.7420T>A (p.Phe2474Ile)
c.7399T>A (p.Phe2467Ile)
c.7054T>A (p.Phe2352Ile)
c.3400T>A (p.Phe1134Ile)
c.7294T>A (p.Phe2432Ile)
c.7285T>A (p.Phe2429Ile)
c.7300T>A (p.Phe2434Ile)
c.1597T>A (p.Phe533Ile)
Xg.31774080A>CCA412658963DMDc.2268T>G (p.Asp756Glu)
c.42T>G (p.Asp14Glu)
n.1083T>G
n.1005T>G
n.914T>G
c.7422T>G (p.Asp2474Glu)
c.3390T>G (p.Asp1130Glu)
c.411T>G (p.Asp137Glu)
c.510T>G (p.Asp170Glu)
c.7410T>G (p.Asp2470Glu)
c.179T>G (n.179T>G)
c.7407T>G (p.Asp2469Glu)
c.7419T>G (p.Asp2473Glu)
c.7398T>G (p.Asp2466Glu)
c.7053T>G (p.Asp2351Glu)
c.3399T>G (p.Asp1133Glu)
c.7293T>G (p.Asp2431Glu)
c.7284T>G (p.Asp2428Glu)
c.7299T>G (p.Asp2433Glu)
c.1596T>G (p.Asp532Glu)
Xg.31774080A>GCA515859357DMDc.2268T>C (p.Asp756=)
c.42T>C (p.Asp14=)
n.1083T>C
n.1005T>C
n.914T>C
c.7422T>C (p.Asp2474=)
c.3390T>C (p.Asp1130=)
c.411T>C (p.Asp137=)
c.510T>C (p.Asp170=)
c.7410T>C (p.Asp2470=)
c.179T>C (n.179T>C)
c.7407T>C (p.Asp2469=)
c.7419T>C (p.Asp2473=)
c.7398T>C (p.Asp2466=)
c.7053T>C (p.Asp2351=)
c.3399T>C (p.Asp1133=)
c.7293T>C (p.Asp2431=)
c.7284T>C (p.Asp2428=)
c.7299T>C (p.Asp2433=)
c.1596T>C (p.Asp532=)
Xg.31774080A>TCA412658964DMDc.2268T>A (p.Asp756Glu)
c.42T>A (p.Asp14Glu)
n.1083T>A
n.1005T>A
n.914T>A
c.7422T>A (p.Asp2474Glu)
c.3390T>A (p.Asp1130Glu)
c.411T>A (p.Asp137Glu)
c.510T>A (p.Asp170Glu)
c.7410T>A (p.Asp2470Glu)
c.179T>A (n.179T>A)
c.7407T>A (p.Asp2469Glu)
c.7419T>A (p.Asp2473Glu)
c.7398T>A (p.Asp2466Glu)
c.7053T>A (p.Asp2351Glu)
c.3399T>A (p.Asp1133Glu)
c.7293T>A (p.Asp2431Glu)
c.7284T>A (p.Asp2428Glu)
c.7299T>A (p.Asp2433Glu)
c.1596T>A (p.Asp532Glu)
Xg.31774081T>ACA412658966DMDc.2267A>T (p.Asp756Val)
c.41A>T (p.Asp14Val)
n.1082A>T
n.1004A>T
n.913A>T
c.7421A>T (p.Asp2474Val)
c.3389A>T (p.Asp1130Val)
c.410A>T (p.Asp137Val)
c.509A>T (p.Asp170Val)
c.7409A>T (p.Asp2470Val)
c.178A>T (n.178A>T)
c.7406A>T (p.Asp2469Val)
c.7418A>T (p.Asp2473Val)
c.7397A>T (p.Asp2466Val)
c.7052A>T (p.Asp2351Val)
c.3398A>T (p.Asp1133Val)
c.7292A>T (p.Asp2431Val)
c.7283A>T (p.Asp2428Val)
c.7298A>T (p.Asp2433Val)
c.1595A>T (p.Asp532Val)
Xg.31774081T>CCA412658967DMDc.2267A>G (p.Asp756Gly)
c.41A>G (p.Asp14Gly)
n.1082A>G
n.1004A>G
n.913A>G
c.7421A>G (p.Asp2474Gly)
c.3389A>G (p.Asp1130Gly)
c.410A>G (p.Asp137Gly)
c.509A>G (p.Asp170Gly)
c.7409A>G (p.Asp2470Gly)
c.178A>G (n.178A>G)
c.7406A>G (p.Asp2469Gly)
c.7418A>G (p.Asp2473Gly)
c.7397A>G (p.Asp2466Gly)
c.7052A>G (p.Asp2351Gly)
c.3398A>G (p.Asp1133Gly)
c.7292A>G (p.Asp2431Gly)
c.7283A>G (p.Asp2428Gly)
c.7298A>G (p.Asp2433Gly)
c.1595A>G (p.Asp532Gly)
 ClinVar dbSNP
Xg.31774081T>GCA412658965DMDc.2267A>C (p.Asp756Ala)
c.41A>C (p.Asp14Ala)
n.1082A>C
n.1004A>C
n.913A>C
c.7421A>C (p.Asp2474Ala)
c.3389A>C (p.Asp1130Ala)
c.410A>C (p.Asp137Ala)
c.509A>C (p.Asp170Ala)
c.7409A>C (p.Asp2470Ala)
c.178A>C (n.178A>C)
c.7406A>C (p.Asp2469Ala)
c.7418A>C (p.Asp2473Ala)
c.7397A>C (p.Asp2466Ala)
c.7052A>C (p.Asp2351Ala)
c.3398A>C (p.Asp1133Ala)
c.7292A>C (p.Asp2431Ala)
c.7283A>C (p.Asp2428Ala)
c.7298A>C (p.Asp2433Ala)
c.1595A>C (p.Asp532Ala)
Xg.31774082C>ACA412658968DMDc.2266G>T (p.Asp756Tyr)
c.40G>T (p.Asp14Tyr)
n.1081G>T
n.1003G>T
n.912G>T
c.7420G>T (p.Asp2474Tyr)
c.3388G>T (p.Asp1130Tyr)
c.409G>T (p.Asp137Tyr)
c.508G>T (p.Asp170Tyr)
c.7408G>T (p.Asp2470Tyr)
c.177G>T (n.177G>T)
c.7405G>T (p.Asp2469Tyr)
c.7417G>T (p.Asp2473Tyr)
c.7396G>T (p.Asp2466Tyr)
c.7051G>T (p.Asp2351Tyr)
c.3397G>T (p.Asp1133Tyr)
c.7291G>T (p.Asp2431Tyr)
c.7282G>T (p.Asp2428Tyr)
c.7297G>T (p.Asp2433Tyr)
c.1594G>T (p.Asp532Tyr)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774082C>GCA412658969DMDc.2266G>C (p.Asp756His)
c.40G>C (p.Asp14His)
n.1081G>C
n.1003G>C
n.912G>C
c.7420G>C (p.Asp2474His)
c.3388G>C (p.Asp1130His)
c.409G>C (p.Asp137His)
c.508G>C (p.Asp170His)
c.7408G>C (p.Asp2470His)
c.177G>C (n.177G>C)
c.7405G>C (p.Asp2469His)
c.7417G>C (p.Asp2473His)
c.7396G>C (p.Asp2466His)
c.7051G>C (p.Asp2351His)
c.3397G>C (p.Asp1133His)
c.7291G>C (p.Asp2431His)
c.7282G>C (p.Asp2428His)
c.7297G>C (p.Asp2433His)
c.1594G>C (p.Asp532His)
Xg.31774082C>TCA412658970DMDc.2266G>A (p.Asp756Asn)
c.40G>A (p.Asp14Asn)
n.1081G>A
n.1003G>A
n.912G>A
c.7420G>A (p.Asp2474Asn)
c.3388G>A (p.Asp1130Asn)
c.409G>A (p.Asp137Asn)
c.508G>A (p.Asp170Asn)
c.7408G>A (p.Asp2470Asn)
c.177G>A (n.177G>A)
c.7405G>A (p.Asp2469Asn)
c.7417G>A (p.Asp2473Asn)
c.7396G>A (p.Asp2466Asn)
c.7051G>A (p.Asp2351Asn)
c.3397G>A (p.Asp1133Asn)
c.7291G>A (p.Asp2431Asn)
c.7282G>A (p.Asp2428Asn)
c.7297G>A (p.Asp2433Asn)
c.1594G>A (p.Asp532Asn)
Xg.31774083T>ACA515859358DMDc.2265A>T (p.Ala755=)
c.39A>T (p.Ala13=)
n.1080A>T
n.1002A>T
n.911A>T
c.7419A>T (p.Ala2473=)
c.3387A>T (p.Ala1129=)
c.408A>T (p.Ala136=)
c.507A>T (p.Ala169=)
c.7407A>T (p.Ala2469=)
c.176A>T (n.176A>T)
c.7404A>T (p.Ala2468=)
c.7416A>T (p.Ala2472=)
c.7395A>T (p.Ala2465=)
c.7050A>T (p.Ala2350=)
c.3396A>T (p.Ala1132=)
c.7290A>T (p.Ala2430=)
c.7281A>T (p.Ala2427=)
c.7296A>T (p.Ala2432=)
c.1593A>T (p.Ala531=)
Xg.31774083T>CCA515859359DMDc.2265A>G (p.Ala755=)
c.39A>G (p.Ala13=)
n.1080A>G
n.1002A>G
n.911A>G
c.7419A>G (p.Ala2473=)
c.3387A>G (p.Ala1129=)
c.408A>G (p.Ala136=)
c.507A>G (p.Ala169=)
c.7407A>G (p.Ala2469=)
c.176A>G (n.176A>G)
c.7404A>G (p.Ala2468=)
c.7416A>G (p.Ala2472=)
c.7395A>G (p.Ala2465=)
c.7050A>G (p.Ala2350=)
c.3396A>G (p.Ala1132=)
c.7290A>G (p.Ala2430=)
c.7281A>G (p.Ala2427=)
c.7296A>G (p.Ala2432=)
c.1593A>G (p.Ala531=)
Xg.31774083T>GCA515859360DMDc.2265A>C (p.Ala755=)
c.39A>C (p.Ala13=)
n.1080A>C
n.1002A>C
n.911A>C
c.7419A>C (p.Ala2473=)
c.3387A>C (p.Ala1129=)
c.408A>C (p.Ala136=)
c.507A>C (p.Ala169=)
c.7407A>C (p.Ala2469=)
c.176A>C (n.176A>C)
c.7404A>C (p.Ala2468=)
c.7416A>C (p.Ala2472=)
c.7395A>C (p.Ala2465=)
c.7050A>C (p.Ala2350=)
c.3396A>C (p.Ala1132=)
c.7290A>C (p.Ala2430=)
c.7281A>C (p.Ala2427=)
c.7296A>C (p.Ala2432=)
c.1593A>C (p.Ala531=)
Xg.31774084G>ACA412658971DMDc.2264C>T (p.Ala755Val)
c.38C>T (p.Ala13Val)
n.1079C>T
n.1001C>T
n.910C>T
c.7418C>T (p.Ala2473Val)
c.3386C>T (p.Ala1129Val)
c.407C>T (p.Ala136Val)
c.506C>T (p.Ala169Val)
c.7406C>T (p.Ala2469Val)
c.175C>T (n.175C>T)
c.7403C>T (p.Ala2468Val)
c.7415C>T (p.Ala2472Val)
c.7394C>T (p.Ala2465Val)
c.7049C>T (p.Ala2350Val)
c.3395C>T (p.Ala1132Val)
c.7289C>T (p.Ala2430Val)
c.7280C>T (p.Ala2427Val)
c.7295C>T (p.Ala2432Val)
c.1592C>T (p.Ala531Val)
 ClinVar gnomAD v4
Xg.31774084G>CCA412658972DMDc.2264C>G (p.Ala755Gly)
c.38C>G (p.Ala13Gly)
n.1079C>G
n.1001C>G
n.910C>G
c.7418C>G (p.Ala2473Gly)
c.3386C>G (p.Ala1129Gly)
c.407C>G (p.Ala136Gly)
c.506C>G (p.Ala169Gly)
c.7406C>G (p.Ala2469Gly)
c.175C>G (n.175C>G)
c.7403C>G (p.Ala2468Gly)
c.7415C>G (p.Ala2472Gly)
c.7394C>G (p.Ala2465Gly)
c.7049C>G (p.Ala2350Gly)
c.3395C>G (p.Ala1132Gly)
c.7289C>G (p.Ala2430Gly)
c.7280C>G (p.Ala2427Gly)
c.7295C>G (p.Ala2432Gly)
c.1592C>G (p.Ala531Gly)
Xg.31774084G>TCA412658973DMDc.2264C>A (p.Ala755Glu)
c.38C>A (p.Ala13Glu)
n.1079C>A
n.1001C>A
n.910C>A
c.7418C>A (p.Ala2473Glu)
c.3386C>A (p.Ala1129Glu)
c.407C>A (p.Ala136Glu)
c.506C>A (p.Ala169Glu)
c.7406C>A (p.Ala2469Glu)
c.175C>A (n.175C>A)
c.7403C>A (p.Ala2468Glu)
c.7415C>A (p.Ala2472Glu)
c.7394C>A (p.Ala2465Glu)
c.7049C>A (p.Ala2350Glu)
c.3395C>A (p.Ala1132Glu)
c.7289C>A (p.Ala2430Glu)
c.7280C>A (p.Ala2427Glu)
c.7295C>A (p.Ala2432Glu)
c.1592C>A (p.Ala531Glu)
Xg.31774085C>ACA412658976DMDc.2263G>T (p.Ala755Ser)
c.37G>T (p.Ala13Ser)
n.1078G>T
n.1000G>T
n.909G>T
c.7417G>T (p.Ala2473Ser)
c.3385G>T (p.Ala1129Ser)
c.406G>T (p.Ala136Ser)
c.505G>T (p.Ala169Ser)
c.7405G>T (p.Ala2469Ser)
c.174G>T (n.174G>T)
c.7402G>T (p.Ala2468Ser)
c.7414G>T (p.Ala2472Ser)
c.7393G>T (p.Ala2465Ser)
c.7048G>T (p.Ala2350Ser)
c.3394G>T (p.Ala1132Ser)
c.7288G>T (p.Ala2430Ser)
c.7279G>T (p.Ala2427Ser)
c.7294G>T (p.Ala2432Ser)
c.1591G>T (p.Ala531Ser)
Xg.31774085C>GCA412658974DMDc.2263G>C (p.Ala755Pro)
c.37G>C (p.Ala13Pro)
n.1078G>C
n.1000G>C
n.909G>C
c.7417G>C (p.Ala2473Pro)
c.3385G>C (p.Ala1129Pro)
c.406G>C (p.Ala136Pro)
c.505G>C (p.Ala169Pro)
c.7405G>C (p.Ala2469Pro)
c.174G>C (n.174G>C)
c.7402G>C (p.Ala2468Pro)
c.7414G>C (p.Ala2472Pro)
c.7393G>C (p.Ala2465Pro)
c.7048G>C (p.Ala2350Pro)
c.3394G>C (p.Ala1132Pro)
c.7288G>C (p.Ala2430Pro)
c.7279G>C (p.Ala2427Pro)
c.7294G>C (p.Ala2432Pro)
c.1591G>C (p.Ala531Pro)
Xg.31774085C>TCA412658975DMDc.2263G>A (p.Ala755Thr)
c.37G>A (p.Ala13Thr)
n.1078G>A
n.1000G>A
n.909G>A
c.7417G>A (p.Ala2473Thr)
c.3385G>A (p.Ala1129Thr)
c.406G>A (p.Ala136Thr)
c.505G>A (p.Ala169Thr)
c.7405G>A (p.Ala2469Thr)
c.174G>A (n.174G>A)
c.7402G>A (p.Ala2468Thr)
c.7414G>A (p.Ala2472Thr)
c.7393G>A (p.Ala2465Thr)
c.7048G>A (p.Ala2350Thr)
c.3394G>A (p.Ala1132Thr)
c.7288G>A (p.Ala2430Thr)
c.7279G>A (p.Ala2427Thr)
c.7294G>A (p.Ala2432Thr)
c.1591G>A (p.Ala531Thr)
Xg.31774086C>ACA515859361DMDc.2262G>T (p.Leu754=)
c.36G>T (p.Leu12=)
n.1077G>T
n.999G>T
n.908G>T
c.7416G>T (p.Leu2472=)
c.3384G>T (p.Leu1128=)
c.405G>T (p.Leu135=)
c.504G>T (p.Leu168=)
c.7404G>T (p.Leu2468=)
c.173G>T (n.173G>T)
c.7401G>T (p.Leu2467=)
c.7413G>T (p.Leu2471=)
c.7392G>T (p.Leu2464=)
c.7047G>T (p.Leu2349=)
c.3393G>T (p.Leu1131=)
c.7287G>T (p.Leu2429=)
c.7278G>T (p.Leu2426=)
c.7293G>T (p.Leu2431=)
c.1590G>T (p.Leu530=)
Xg.31774086C>GCA515859362DMDc.2262G>C (p.Leu754=)
c.36G>C (p.Leu12=)
n.1077G>C
n.999G>C
n.908G>C
c.7416G>C (p.Leu2472=)
c.3384G>C (p.Leu1128=)
c.405G>C (p.Leu135=)
c.504G>C (p.Leu168=)
c.7404G>C (p.Leu2468=)
c.173G>C (n.173G>C)
c.7401G>C (p.Leu2467=)
c.7413G>C (p.Leu2471=)
c.7392G>C (p.Leu2464=)
c.7047G>C (p.Leu2349=)
c.3393G>C (p.Leu1131=)
c.7287G>C (p.Leu2429=)
c.7278G>C (p.Leu2426=)
c.7293G>C (p.Leu2431=)
c.1590G>C (p.Leu530=)
Xg.31774086C>TCA515859363DMDc.2262G>A (p.Leu754=)
c.36G>A (p.Leu12=)
n.1077G>A
n.999G>A
n.908G>A
c.7416G>A (p.Leu2472=)
c.3384G>A (p.Leu1128=)
c.405G>A (p.Leu135=)
c.504G>A (p.Leu168=)
c.7404G>A (p.Leu2468=)
c.173G>A (n.173G>A)
c.7401G>A (p.Leu2467=)
c.7413G>A (p.Leu2471=)
c.7392G>A (p.Leu2464=)
c.7047G>A (p.Leu2349=)
c.3393G>A (p.Leu1131=)
c.7287G>A (p.Leu2429=)
c.7278G>A (p.Leu2426=)
c.7293G>A (p.Leu2431=)
c.1590G>A (p.Leu530=)
Xg.31774087A>CCA412658977DMDc.2261T>G (p.Leu754Arg)
c.35T>G (p.Leu12Arg)
n.1076T>G
n.998T>G
n.907T>G
c.7415T>G (p.Leu2472Arg)
c.3383T>G (p.Leu1128Arg)
c.404T>G (p.Leu135Arg)
c.503T>G (p.Leu168Arg)
c.7403T>G (p.Leu2468Arg)
c.172T>G (n.172T>G)
c.7400T>G (p.Leu2467Arg)
c.7412T>G (p.Leu2471Arg)
c.7391T>G (p.Leu2464Arg)
c.7046T>G (p.Leu2349Arg)
c.3392T>G (p.Leu1131Arg)
c.7286T>G (p.Leu2429Arg)
c.7277T>G (p.Leu2426Arg)
c.7292T>G (p.Leu2431Arg)
c.1589T>G (p.Leu530Arg)
Xg.31774087A>GCA412658978DMDc.2261T>C (p.Leu754Pro)
c.35T>C (p.Leu12Pro)
n.1076T>C
n.998T>C
n.907T>C
c.7415T>C (p.Leu2472Pro)
c.3383T>C (p.Leu1128Pro)
c.404T>C (p.Leu135Pro)
c.503T>C (p.Leu168Pro)
c.7403T>C (p.Leu2468Pro)
c.172T>C (n.172T>C)
c.7400T>C (p.Leu2467Pro)
c.7412T>C (p.Leu2471Pro)
c.7391T>C (p.Leu2464Pro)
c.7046T>C (p.Leu2349Pro)
c.3392T>C (p.Leu1131Pro)
c.7286T>C (p.Leu2429Pro)
c.7277T>C (p.Leu2426Pro)
c.7292T>C (p.Leu2431Pro)
c.1589T>C (p.Leu530Pro)
Xg.31774087A>TCA412658979DMDc.2261T>A (p.Leu754Gln)
c.35T>A (p.Leu12Gln)
n.1076T>A
n.998T>A
n.907T>A
c.7415T>A (p.Leu2472Gln)
c.3383T>A (p.Leu1128Gln)
c.404T>A (p.Leu135Gln)
c.503T>A (p.Leu168Gln)
c.7403T>A (p.Leu2468Gln)
c.172T>A (n.172T>A)
c.7400T>A (p.Leu2467Gln)
c.7412T>A (p.Leu2471Gln)
c.7391T>A (p.Leu2464Gln)
c.7046T>A (p.Leu2349Gln)
c.3392T>A (p.Leu1131Gln)
c.7286T>A (p.Leu2429Gln)
c.7277T>A (p.Leu2426Gln)
c.7292T>A (p.Leu2431Gln)
c.1589T>A (p.Leu530Gln)
Xg.31774088G>ACA515859364DMDc.2260C>T (p.Leu754=)
c.34C>T (p.Leu12=)
n.1075C>T
n.997C>T
n.906C>T
c.7414C>T (p.Leu2472=)
c.3382C>T (p.Leu1128=)
c.403C>T (p.Leu135=)
c.502C>T (p.Leu168=)
c.7402C>T (p.Leu2468=)
c.171C>T (n.171C>T)
c.7399C>T (p.Leu2467=)
c.7411C>T (p.Leu2471=)
c.7390C>T (p.Leu2464=)
c.7045C>T (p.Leu2349=)
c.3391C>T (p.Leu1131=)
c.7285C>T (p.Leu2429=)
c.7276C>T (p.Leu2426=)
c.7291C>T (p.Leu2431=)
c.1588C>T (p.Leu530=)
Xg.31774088G>CCA412658980DMDc.2260C>G (p.Leu754Val)
c.34C>G (p.Leu12Val)
n.1075C>G
n.997C>G
n.906C>G
c.7414C>G (p.Leu2472Val)
c.3382C>G (p.Leu1128Val)
c.403C>G (p.Leu135Val)
c.502C>G (p.Leu168Val)
c.7402C>G (p.Leu2468Val)
c.171C>G (n.171C>G)
c.7399C>G (p.Leu2467Val)
c.7411C>G (p.Leu2471Val)
c.7390C>G (p.Leu2464Val)
c.7045C>G (p.Leu2349Val)
c.3391C>G (p.Leu1131Val)
c.7285C>G (p.Leu2429Val)
c.7276C>G (p.Leu2426Val)
c.7291C>G (p.Leu2431Val)
c.1588C>G (p.Leu530Val)
Xg.31774088G>TCA412658981DMDc.2260C>A (p.Leu754Met)
c.34C>A (p.Leu12Met)
n.1075C>A
n.997C>A
n.906C>A
c.7414C>A (p.Leu2472Met)
c.3382C>A (p.Leu1128Met)
c.403C>A (p.Leu135Met)
c.502C>A (p.Leu168Met)
c.7402C>A (p.Leu2468Met)
c.171C>A (n.171C>A)
c.7399C>A (p.Leu2467Met)
c.7411C>A (p.Leu2471Met)
c.7390C>A (p.Leu2464Met)
c.7045C>A (p.Leu2349Met)
c.3391C>A (p.Leu1131Met)
c.7285C>A (p.Leu2429Met)
c.7276C>A (p.Leu2426Met)
c.7291C>A (p.Leu2431Met)
c.1588C>A (p.Leu530Met)
Xg.31774089A>CCA515859365DMDc.2259T>G (p.Ala753=)
c.33T>G (p.Ala11=)
n.1074T>G
n.996T>G
n.905T>G
c.7413T>G (p.Ala2471=)
c.3381T>G (p.Ala1127=)
c.402T>G (p.Ala134=)
c.501T>G (p.Ala167=)
c.7401T>G (p.Ala2467=)
c.170T>G (n.170T>G)
c.7398T>G (p.Ala2466=)
c.7410T>G (p.Ala2470=)
c.7389T>G (p.Ala2463=)
c.7044T>G (p.Ala2348=)
c.3390T>G (p.Ala1130=)
c.7284T>G (p.Ala2428=)
c.7275T>G (p.Ala2425=)
c.7290T>G (p.Ala2430=)
c.1587T>G (p.Ala529=)
Xg.31774089A>GCA515859366DMDc.2259T>C (p.Ala753=)
c.33T>C (p.Ala11=)
n.1074T>C
n.996T>C
n.905T>C
c.7413T>C (p.Ala2471=)
c.3381T>C (p.Ala1127=)
c.402T>C (p.Ala134=)
c.501T>C (p.Ala167=)
c.7401T>C (p.Ala2467=)
c.170T>C (n.170T>C)
c.7398T>C (p.Ala2466=)
c.7410T>C (p.Ala2470=)
c.7389T>C (p.Ala2463=)
c.7044T>C (p.Ala2348=)
c.3390T>C (p.Ala1130=)
c.7284T>C (p.Ala2428=)
c.7275T>C (p.Ala2425=)
c.7290T>C (p.Ala2430=)
c.1587T>C (p.Ala529=)
Xg.31774089A>TCA515859367DMDc.2259T>A (p.Ala753=)
c.33T>A (p.Ala11=)
n.1074T>A
n.996T>A
n.905T>A
c.7413T>A (p.Ala2471=)
c.3381T>A (p.Ala1127=)
c.402T>A (p.Ala134=)
c.501T>A (p.Ala167=)
c.7401T>A (p.Ala2467=)
c.170T>A (n.170T>A)
c.7398T>A (p.Ala2466=)
c.7410T>A (p.Ala2470=)
c.7389T>A (p.Ala2463=)
c.7044T>A (p.Ala2348=)
c.3390T>A (p.Ala1130=)
c.7284T>A (p.Ala2428=)
c.7275T>A (p.Ala2425=)
c.7290T>A (p.Ala2430=)
c.1587T>A (p.Ala529=)
 ClinVar dbSNP
Xg.31774090G>ACA412658982DMDc.2258C>T (p.Ala753Val)
c.32C>T (p.Ala11Val)
n.1073C>T
n.995C>T
n.904C>T
c.7412C>T (p.Ala2471Val)
c.3380C>T (p.Ala1127Val)
c.401C>T (p.Ala134Val)
c.500C>T (p.Ala167Val)
c.7400C>T (p.Ala2467Val)
c.169C>T (n.169C>T)
c.7397C>T (p.Ala2466Val)
c.7409C>T (p.Ala2470Val)
c.7388C>T (p.Ala2463Val)
c.7043C>T (p.Ala2348Val)
c.3389C>T (p.Ala1130Val)
c.7283C>T (p.Ala2428Val)
c.7274C>T (p.Ala2425Val)
c.7289C>T (p.Ala2430Val)
c.1586C>T (p.Ala529Val)
Xg.31774090G>CCA412658984DMDc.2258C>G (p.Ala753Gly)
c.32C>G (p.Ala11Gly)
n.1073C>G
n.995C>G
n.904C>G
c.7412C>G (p.Ala2471Gly)
c.3380C>G (p.Ala1127Gly)
c.401C>G (p.Ala134Gly)
c.500C>G (p.Ala167Gly)
c.7400C>G (p.Ala2467Gly)
c.169C>G (n.169C>G)
c.7397C>G (p.Ala2466Gly)
c.7409C>G (p.Ala2470Gly)
c.7388C>G (p.Ala2463Gly)
c.7043C>G (p.Ala2348Gly)
c.3389C>G (p.Ala1130Gly)
c.7283C>G (p.Ala2428Gly)
c.7274C>G (p.Ala2425Gly)
c.7289C>G (p.Ala2430Gly)
c.1586C>G (p.Ala529Gly)
Xg.31774090G>TCA412658983DMDc.2258C>A (p.Ala753Asp)
c.32C>A (p.Ala11Asp)
n.1073C>A
n.995C>A
n.904C>A
c.7412C>A (p.Ala2471Asp)
c.3380C>A (p.Ala1127Asp)
c.401C>A (p.Ala134Asp)
c.500C>A (p.Ala167Asp)
c.7400C>A (p.Ala2467Asp)
c.169C>A (n.169C>A)
c.7397C>A (p.Ala2466Asp)
c.7409C>A (p.Ala2470Asp)
c.7388C>A (p.Ala2463Asp)
c.7043C>A (p.Ala2348Asp)
c.3389C>A (p.Ala1130Asp)
c.7283C>A (p.Ala2428Asp)
c.7274C>A (p.Ala2425Asp)
c.7289C>A (p.Ala2430Asp)
c.1586C>A (p.Ala529Asp)
Xg.31774091C>ACA412658985DMDc.2257G>T (p.Ala753Ser)
c.31G>T (p.Ala11Ser)
n.1072G>T
n.994G>T
n.903G>T
c.7411G>T (p.Ala2471Ser)
c.3379G>T (p.Ala1127Ser)
c.400G>T (p.Ala134Ser)
c.499G>T (p.Ala167Ser)
c.7399G>T (p.Ala2467Ser)
c.168G>T (n.168G>T)
c.7396G>T (p.Ala2466Ser)
c.7408G>T (p.Ala2470Ser)
c.7387G>T (p.Ala2463Ser)
c.7042G>T (p.Ala2348Ser)
c.3388G>T (p.Ala1130Ser)
c.7282G>T (p.Ala2428Ser)
c.7273G>T (p.Ala2425Ser)
c.7288G>T (p.Ala2430Ser)
c.1585G>T (p.Ala529Ser)
Xg.31774091C>GCA412658986DMDc.2257G>C (p.Ala753Pro)
c.31G>C (p.Ala11Pro)
n.1072G>C
n.994G>C
n.903G>C
c.7411G>C (p.Ala2471Pro)
c.3379G>C (p.Ala1127Pro)
c.400G>C (p.Ala134Pro)
c.499G>C (p.Ala167Pro)
c.7399G>C (p.Ala2467Pro)
c.168G>C (n.168G>C)
c.7396G>C (p.Ala2466Pro)
c.7408G>C (p.Ala2470Pro)
c.7387G>C (p.Ala2463Pro)
c.7042G>C (p.Ala2348Pro)
c.3388G>C (p.Ala1130Pro)
c.7282G>C (p.Ala2428Pro)
c.7273G>C (p.Ala2425Pro)
c.7288G>C (p.Ala2430Pro)
c.1585G>C (p.Ala529Pro)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774091C>TCA412658987DMDc.2257G>A (p.Ala753Thr)
c.31G>A (p.Ala11Thr)
n.1072G>A
n.994G>A
n.903G>A
c.7411G>A (p.Ala2471Thr)
c.3379G>A (p.Ala1127Thr)
c.400G>A (p.Ala134Thr)
c.499G>A (p.Ala167Thr)
c.7399G>A (p.Ala2467Thr)
c.168G>A (n.168G>A)
c.7396G>A (p.Ala2466Thr)
c.7408G>A (p.Ala2470Thr)
c.7387G>A (p.Ala2463Thr)
c.7042G>A (p.Ala2348Thr)
c.3388G>A (p.Ala1130Thr)
c.7282G>A (p.Ala2428Thr)
c.7273G>A (p.Ala2425Thr)
c.7288G>A (p.Ala2430Thr)
c.1585G>A (p.Ala529Thr)
Xg.31774092A>CCA515859370DMDc.2256T>G (p.Pro752=)
c.30T>G (p.Pro10=)
n.1071T>G
n.993T>G
n.902T>G
c.7410T>G (p.Pro2470=)
c.3378T>G (p.Pro1126=)
c.399T>G (p.Pro133=)
c.498T>G (p.Pro166=)
c.7398T>G (p.Pro2466=)
c.167T>G (n.167T>G)
c.7395T>G (p.Pro2465=)
c.7407T>G (p.Pro2469=)
c.7386T>G (p.Pro2462=)
c.7041T>G (p.Pro2347=)
c.3387T>G (p.Pro1129=)
c.7281T>G (p.Pro2427=)
c.7272T>G (p.Pro2424=)
c.7287T>G (p.Pro2429=)
c.1584T>G (p.Pro528=)
Xg.31774092A>GCA515859369DMDc.2256T>C (p.Pro752=)
c.30T>C (p.Pro10=)
n.1071T>C
n.993T>C
n.902T>C
c.7410T>C (p.Pro2470=)
c.3378T>C (p.Pro1126=)
c.399T>C (p.Pro133=)
c.498T>C (p.Pro166=)
c.7398T>C (p.Pro2466=)
c.167T>C (n.167T>C)
c.7395T>C (p.Pro2465=)
c.7407T>C (p.Pro2469=)
c.7386T>C (p.Pro2462=)
c.7041T>C (p.Pro2347=)
c.3387T>C (p.Pro1129=)
c.7281T>C (p.Pro2427=)
c.7272T>C (p.Pro2424=)
c.7287T>C (p.Pro2429=)
c.1584T>C (p.Pro528=)
Xg.31774092A>TCA515859368DMDc.2256T>A (p.Pro752=)
c.30T>A (p.Pro10=)
n.1071T>A
n.993T>A
n.902T>A
c.7410T>A (p.Pro2470=)
c.3378T>A (p.Pro1126=)
c.399T>A (p.Pro133=)
c.498T>A (p.Pro166=)
c.7398T>A (p.Pro2466=)
c.167T>A (n.167T>A)
c.7395T>A (p.Pro2465=)
c.7407T>A (p.Pro2469=)
c.7386T>A (p.Pro2462=)
c.7041T>A (p.Pro2347=)
c.3387T>A (p.Pro1129=)
c.7281T>A (p.Pro2427=)
c.7272T>A (p.Pro2424=)
c.7287T>A (p.Pro2429=)
c.1584T>A (p.Pro528=)
Xg.31774093G>ACA412658988DMDc.2255C>T (p.Pro752Leu)
c.29C>T (p.Pro10Leu)
n.1070C>T
n.992C>T
n.901C>T
c.7409C>T (p.Pro2470Leu)
c.3377C>T (p.Pro1126Leu)
c.398C>T (p.Pro133Leu)
c.497C>T (p.Pro166Leu)
c.7397C>T (p.Pro2466Leu)
c.166C>T (n.166C>T)
c.7394C>T (p.Pro2465Leu)
c.7406C>T (p.Pro2469Leu)
c.7385C>T (p.Pro2462Leu)
c.7040C>T (p.Pro2347Leu)
c.3386C>T (p.Pro1129Leu)
c.7280C>T (p.Pro2427Leu)
c.7271C>T (p.Pro2424Leu)
c.7286C>T (p.Pro2429Leu)
c.1583C>T (p.Pro528Leu)
Xg.31774093G>CCA412658989DMDc.2255C>G (p.Pro752Arg)
c.29C>G (p.Pro10Arg)
n.1070C>G
n.992C>G
n.901C>G
c.7409C>G (p.Pro2470Arg)
c.3377C>G (p.Pro1126Arg)
c.398C>G (p.Pro133Arg)
c.497C>G (p.Pro166Arg)
c.7397C>G (p.Pro2466Arg)
c.166C>G (n.166C>G)
c.7394C>G (p.Pro2465Arg)
c.7406C>G (p.Pro2469Arg)
c.7385C>G (p.Pro2462Arg)
c.7040C>G (p.Pro2347Arg)
c.3386C>G (p.Pro1129Arg)
c.7280C>G (p.Pro2427Arg)
c.7271C>G (p.Pro2424Arg)
c.7286C>G (p.Pro2429Arg)
c.1583C>G (p.Pro528Arg)
Xg.31774093G>TCA412658990DMDc.2255C>A (p.Pro752His)
c.29C>A (p.Pro10His)
n.1070C>A
n.992C>A
n.901C>A
c.7409C>A (p.Pro2470His)
c.3377C>A (p.Pro1126His)
c.398C>A (p.Pro133His)
c.497C>A (p.Pro166His)
c.7397C>A (p.Pro2466His)
c.166C>A (n.166C>A)
c.7394C>A (p.Pro2465His)
c.7406C>A (p.Pro2469His)
c.7385C>A (p.Pro2462His)
c.7040C>A (p.Pro2347His)
c.3386C>A (p.Pro1129His)
c.7280C>A (p.Pro2427His)
c.7271C>A (p.Pro2424His)
c.7286C>A (p.Pro2429His)
c.1583C>A (p.Pro528His)
Xg.31774094G>ACA412658991DMDc.2254C>T (p.Pro752Ser)
c.28C>T (p.Pro10Ser)
n.1069C>T
n.991C>T
n.900C>T
c.7408C>T (p.Pro2470Ser)
c.3376C>T (p.Pro1126Ser)
c.397C>T (p.Pro133Ser)
c.496C>T (p.Pro166Ser)
c.7396C>T (p.Pro2466Ser)
c.165C>T (n.165C>T)
c.7393C>T (p.Pro2465Ser)
c.7405C>T (p.Pro2469Ser)
c.7384C>T (p.Pro2462Ser)
c.7039C>T (p.Pro2347Ser)
c.3385C>T (p.Pro1129Ser)
c.7279C>T (p.Pro2427Ser)
c.7270C>T (p.Pro2424Ser)
c.7285C>T (p.Pro2429Ser)
c.1582C>T (p.Pro528Ser)
Xg.31774094G>CCA412658992DMDc.2254C>G (p.Pro752Ala)
c.28C>G (p.Pro10Ala)
n.1069C>G
n.991C>G
n.900C>G
c.7408C>G (p.Pro2470Ala)
c.3376C>G (p.Pro1126Ala)
c.397C>G (p.Pro133Ala)
c.496C>G (p.Pro166Ala)
c.7396C>G (p.Pro2466Ala)
c.165C>G (n.165C>G)
c.7393C>G (p.Pro2465Ala)
c.7405C>G (p.Pro2469Ala)
c.7384C>G (p.Pro2462Ala)
c.7039C>G (p.Pro2347Ala)
c.3385C>G (p.Pro1129Ala)
c.7279C>G (p.Pro2427Ala)
c.7270C>G (p.Pro2424Ala)
c.7285C>G (p.Pro2429Ala)
c.1582C>G (p.Pro528Ala)
Xg.31774094G>TCA412658993DMDc.2254C>A (p.Pro752Thr)
c.28C>A (p.Pro10Thr)
n.1069C>A
n.991C>A
n.900C>A
c.7408C>A (p.Pro2470Thr)
c.3376C>A (p.Pro1126Thr)
c.397C>A (p.Pro133Thr)
c.496C>A (p.Pro166Thr)
c.7396C>A (p.Pro2466Thr)
c.165C>A (n.165C>A)
c.7393C>A (p.Pro2465Thr)
c.7405C>A (p.Pro2469Thr)
c.7384C>A (p.Pro2462Thr)
c.7039C>A (p.Pro2347Thr)
c.3385C>A (p.Pro1129Thr)
c.7279C>A (p.Pro2427Thr)
c.7270C>A (p.Pro2424Thr)
c.7285C>A (p.Pro2429Thr)
c.1582C>A (p.Pro528Thr)
Xg.31774095T>ACA515859371DMDc.2253A>T (p.Val751=)
c.27A>T (p.Val9=)
n.1068A>T
n.990A>T
n.899A>T
c.7407A>T (p.Val2469=)
c.3375A>T (p.Val1125=)
c.396A>T (p.Val132=)
c.495A>T (p.Val165=)
c.7395A>T (p.Val2465=)
c.164A>T (n.164A>T)
c.7392A>T (p.Val2464=)
c.7404A>T (p.Val2468=)
c.7383A>T (p.Val2461=)
c.7038A>T (p.Val2346=)
c.3384A>T (p.Val1128=)
c.7278A>T (p.Val2426=)
c.7269A>T (p.Val2423=)
c.7284A>T (p.Val2428=)
c.1581A>T (p.Val527=)
Xg.31774095T>CCA515859372DMDc.2253A>G (p.Val751=)
c.27A>G (p.Val9=)
n.1068A>G
n.990A>G
n.899A>G
c.7407A>G (p.Val2469=)
c.3375A>G (p.Val1125=)
c.396A>G (p.Val132=)
c.495A>G (p.Val165=)
c.7395A>G (p.Val2465=)
c.164A>G (n.164A>G)
c.7392A>G (p.Val2464=)
c.7404A>G (p.Val2468=)
c.7383A>G (p.Val2461=)
c.7038A>G (p.Val2346=)
c.3384A>G (p.Val1128=)
c.7278A>G (p.Val2426=)
c.7269A>G (p.Val2423=)
c.7284A>G (p.Val2428=)
c.1581A>G (p.Val527=)
 ClinVar
Xg.31774095T>GCA515859373DMDc.2253A>C (p.Val751=)
c.27A>C (p.Val9=)
n.1068A>C
n.990A>C
n.899A>C
c.7407A>C (p.Val2469=)
c.3375A>C (p.Val1125=)
c.396A>C (p.Val132=)
c.495A>C (p.Val165=)
c.7395A>C (p.Val2465=)
c.164A>C (n.164A>C)
c.7392A>C (p.Val2464=)
c.7404A>C (p.Val2468=)
c.7383A>C (p.Val2461=)
c.7038A>C (p.Val2346=)
c.3384A>C (p.Val1128=)
c.7278A>C (p.Val2426=)
c.7269A>C (p.Val2423=)
c.7284A>C (p.Val2428=)
c.1581A>C (p.Val527=)
 ClinVar dbSNP
Xg.31774096A=CA2422548651DMDc.2252T= (p.Val751=)
c.26T= (p.Val9=)
n.1067T=
n.989T=
n.898T=
c.7406T= (p.Val2469=)
c.3374T= (p.Val1125=)
c.395T= (p.Val132=)
c.494T= (p.Val165=)
c.7394T= (p.Val2465=)
c.163T= (n.163T=)
c.7391T= (p.Val2464=)
c.7403T= (p.Val2468=)
c.7382T= (p.Val2461=)
c.7037T= (p.Val2346=)
c.3383T= (p.Val1128=)
c.7277T= (p.Val2426=)
c.7268T= (p.Val2423=)
c.7283T= (p.Val2428=)
c.1580T= (p.Val527=)
Xg.31774096A>CCA412658994DMDc.2252T>G (p.Val751Gly)
c.26T>G (p.Val9Gly)
n.1067T>G
n.989T>G
n.898T>G
c.7406T>G (p.Val2469Gly)
c.3374T>G (p.Val1125Gly)
c.395T>G (p.Val132Gly)
c.494T>G (p.Val165Gly)
c.7394T>G (p.Val2465Gly)
c.163T>G (n.163T>G)
c.7391T>G (p.Val2464Gly)
c.7403T>G (p.Val2468Gly)
c.7382T>G (p.Val2461Gly)
c.7037T>G (p.Val2346Gly)
c.3383T>G (p.Val1128Gly)
c.7277T>G (p.Val2426Gly)
c.7268T>G (p.Val2423Gly)
c.7283T>G (p.Val2428Gly)
c.1580T>G (p.Val527Gly)
Xg.31774096A>GCA412658995DMDc.2252T>C (p.Val751Ala)
c.26T>C (p.Val9Ala)
n.1067T>C
n.989T>C
n.898T>C
c.7406T>C (p.Val2469Ala)
c.3374T>C (p.Val1125Ala)
c.395T>C (p.Val132Ala)
c.494T>C (p.Val165Ala)
c.7394T>C (p.Val2465Ala)
c.163T>C (n.163T>C)
c.7391T>C (p.Val2464Ala)
c.7403T>C (p.Val2468Ala)
c.7382T>C (p.Val2461Ala)
c.7037T>C (p.Val2346Ala)
c.3383T>C (p.Val1128Ala)
c.7277T>C (p.Val2426Ala)
c.7268T>C (p.Val2423Ala)
c.7283T>C (p.Val2428Ala)
c.1580T>C (p.Val527Ala)
Xg.31774096A>TCA412658996DMDc.2252T>A (p.Val751Glu)
c.26T>A (p.Val9Glu)
n.1067T>A
n.989T>A
n.898T>A
c.7406T>A (p.Val2469Glu)
c.3374T>A (p.Val1125Glu)
c.395T>A (p.Val132Glu)
c.494T>A (p.Val165Glu)
c.7394T>A (p.Val2465Glu)
c.163T>A (n.163T>A)
c.7391T>A (p.Val2464Glu)
c.7403T>A (p.Val2468Glu)
c.7382T>A (p.Val2461Glu)
c.7037T>A (p.Val2346Glu)
c.3383T>A (p.Val1128Glu)
c.7277T>A (p.Val2426Glu)
c.7268T>A (p.Val2423Glu)
c.7283T>A (p.Val2428Glu)
c.1580T>A (p.Val527Glu)
 dbSNP
Xg.31774097C>ACA412658998DMDc.2251G>T (p.Val751Leu)
c.25G>T (p.Val9Leu)
n.1066G>T
n.988G>T
n.897G>T
c.7405G>T (p.Val2469Leu)
c.3373G>T (p.Val1125Leu)
c.394G>T (p.Val132Leu)
c.493G>T (p.Val165Leu)
c.7393G>T (p.Val2465Leu)
c.162G>T (n.162G>T)
c.7390G>T (p.Val2464Leu)
c.7402G>T (p.Val2468Leu)
c.7381G>T (p.Val2461Leu)
c.7036G>T (p.Val2346Leu)
c.3382G>T (p.Val1128Leu)
c.7276G>T (p.Val2426Leu)
c.7267G>T (p.Val2423Leu)
c.7282G>T (p.Val2428Leu)
c.1579G>T (p.Val527Leu)
 dbSNP
Xg.31774097C>GCA412658999DMDc.2251G>C (p.Val751Leu)
c.25G>C (p.Val9Leu)
n.1066G>C
n.988G>C
n.897G>C
c.7405G>C (p.Val2469Leu)
c.3373G>C (p.Val1125Leu)
c.394G>C (p.Val132Leu)
c.493G>C (p.Val165Leu)
c.7393G>C (p.Val2465Leu)
c.162G>C (n.162G>C)
c.7390G>C (p.Val2464Leu)
c.7402G>C (p.Val2468Leu)
c.7381G>C (p.Val2461Leu)
c.7036G>C (p.Val2346Leu)
c.3382G>C (p.Val1128Leu)
c.7276G>C (p.Val2426Leu)
c.7267G>C (p.Val2423Leu)
c.7282G>C (p.Val2428Leu)
c.1579G>C (p.Val527Leu)
Xg.31774097C>TCA412658997DMDc.2251G>A (p.Val751Ile)
c.25G>A (p.Val9Ile)
n.1066G>A
n.988G>A
n.897G>A
c.7405G>A (p.Val2469Ile)
c.3373G>A (p.Val1125Ile)
c.394G>A (p.Val132Ile)
c.493G>A (p.Val165Ile)
c.7393G>A (p.Val2465Ile)
c.162G>A (n.162G>A)
c.7390G>A (p.Val2464Ile)
c.7402G>A (p.Val2468Ile)
c.7381G>A (p.Val2461Ile)
c.7036G>A (p.Val2346Ile)
c.3382G>A (p.Val1128Ile)
c.7276G>A (p.Val2426Ile)
c.7267G>A (p.Val2423Ile)
c.7282G>A (p.Val2428Ile)
c.1579G>A (p.Val527Ile)
Xg.31774098C>ACA412659000DMDc.2250G>T (p.Glu750Asp)
c.24G>T (p.Glu8Asp)
n.1065G>T
n.987G>T
n.896G>T
c.7404G>T (p.Glu2468Asp)
c.3372G>T (p.Glu1124Asp)
c.393G>T (p.Glu131Asp)
c.492G>T (p.Glu164Asp)
c.7392G>T (p.Glu2464Asp)
c.161G>T (n.161G>T)
c.7389G>T (p.Glu2463Asp)
c.7401G>T (p.Glu2467Asp)
c.7380G>T (p.Glu2460Asp)
c.7035G>T (p.Glu2345Asp)
c.3381G>T (p.Glu1127Asp)
c.7275G>T (p.Glu2425Asp)
c.7266G>T (p.Glu2422Asp)
c.7281G>T (p.Glu2427Asp)
c.1578G>T (p.Glu526Asp)
Xg.31774098C=CA2422548652DMDc.2250G= (p.Glu750=)
c.24G= (p.Glu8=)
n.1065G=
n.987G=
n.896G=
c.7404G= (p.Glu2468=)
c.3372G= (p.Glu1124=)
c.393G= (p.Glu131=)
c.492G= (p.Glu164=)
c.7392G= (p.Glu2464=)
c.161G= (n.161G=)
c.7389G= (p.Glu2463=)
c.7401G= (p.Glu2467=)
c.7380G= (p.Glu2460=)
c.7035G= (p.Glu2345=)
c.3381G= (p.Glu1127=)
c.7275G= (p.Glu2425=)
c.7266G= (p.Glu2422=)
c.7281G= (p.Glu2427=)
c.1578G= (p.Glu526=)
Xg.31774098C>GCA412659001DMDc.2250G>C (p.Glu750Asp)
c.24G>C (p.Glu8Asp)
n.1065G>C
n.987G>C
n.896G>C
c.7404G>C (p.Glu2468Asp)
c.3372G>C (p.Glu1124Asp)
c.393G>C (p.Glu131Asp)
c.492G>C (p.Glu164Asp)
c.7392G>C (p.Glu2464Asp)
c.161G>C (n.161G>C)
c.7389G>C (p.Glu2463Asp)
c.7401G>C (p.Glu2467Asp)
c.7380G>C (p.Glu2460Asp)
c.7035G>C (p.Glu2345Asp)
c.3381G>C (p.Glu1127Asp)
c.7275G>C (p.Glu2425Asp)
c.7266G>C (p.Glu2422Asp)
c.7281G>C (p.Glu2427Asp)
c.1578G>C (p.Glu526Asp)
Xg.31774098C>TCA515859374DMDc.2250G>A (p.Glu750=)
c.24G>A (p.Glu8=)
n.1065G>A
n.987G>A
n.896G>A
c.7404G>A (p.Glu2468=)
c.3372G>A (p.Glu1124=)
c.393G>A (p.Glu131=)
c.492G>A (p.Glu164=)
c.7392G>A (p.Glu2464=)
c.161G>A (n.161G>A)
c.7389G>A (p.Glu2463=)
c.7401G>A (p.Glu2467=)
c.7380G>A (p.Glu2460=)
c.7035G>A (p.Glu2345=)
c.3381G>A (p.Glu1127=)
c.7275G>A (p.Glu2425=)
c.7266G>A (p.Glu2422=)
c.7281G>A (p.Glu2427=)
c.1578G>A (p.Glu526=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31774099T>ACA412659002DMDc.2249A>T (p.Glu750Val)
c.23A>T (p.Glu8Val)
n.1064A>T
n.986A>T
n.895A>T
c.7403A>T (p.Glu2468Val)
c.3371A>T (p.Glu1124Val)
c.392A>T (p.Glu131Val)
c.491A>T (p.Glu164Val)
c.7391A>T (p.Glu2464Val)
c.160A>T (n.160A>T)
c.7388A>T (p.Glu2463Val)
c.7400A>T (p.Glu2467Val)
c.7379A>T (p.Glu2460Val)
c.7034A>T (p.Glu2345Val)
c.3380A>T (p.Glu1127Val)
c.7274A>T (p.Glu2425Val)
c.7265A>T (p.Glu2422Val)
c.7280A>T (p.Glu2427Val)
c.1577A>T (p.Glu526Val)
Xg.31774099T>CCA412659003DMDc.2249A>G (p.Glu750Gly)
c.23A>G (p.Glu8Gly)
n.1064A>G
n.986A>G
n.895A>G
c.7403A>G (p.Glu2468Gly)
c.3371A>G (p.Glu1124Gly)
c.392A>G (p.Glu131Gly)
c.491A>G (p.Glu164Gly)
c.7391A>G (p.Glu2464Gly)
c.160A>G (n.160A>G)
c.7388A>G (p.Glu2463Gly)
c.7400A>G (p.Glu2467Gly)
c.7379A>G (p.Glu2460Gly)
c.7034A>G (p.Glu2345Gly)
c.3380A>G (p.Glu1127Gly)
c.7274A>G (p.Glu2425Gly)
c.7265A>G (p.Glu2422Gly)
c.7280A>G (p.Glu2427Gly)
c.1577A>G (p.Glu526Gly)
Xg.31774099T>GCA412659004DMDc.2249A>C (p.Glu750Ala)
c.23A>C (p.Glu8Ala)
n.1064A>C
n.986A>C
n.895A>C
c.7403A>C (p.Glu2468Ala)
c.3371A>C (p.Glu1124Ala)
c.392A>C (p.Glu131Ala)
c.491A>C (p.Glu164Ala)
c.7391A>C (p.Glu2464Ala)
c.160A>C (n.160A>C)
c.7388A>C (p.Glu2463Ala)
c.7400A>C (p.Glu2467Ala)
c.7379A>C (p.Glu2460Ala)
c.7034A>C (p.Glu2345Ala)
c.3380A>C (p.Glu1127Ala)
c.7274A>C (p.Glu2425Ala)
c.7265A>C (p.Glu2422Ala)
c.7280A>C (p.Glu2427Ala)
c.1577A>C (p.Glu526Ala)
Xg.31774100C>ACA341073DMDc.2248G>T (p.Glu750Ter)
c.22G>T (p.Glu8Ter)
n.1063G>T
n.985G>T
n.894G>T
c.7402G>T (p.Glu2468Ter)
c.3370G>T (p.Glu1124Ter)
c.391G>T (p.Glu131Ter)
c.490G>T (p.Glu164Ter)
c.7390G>T (p.Glu2464Ter)
c.159G>T (n.159G>T)
c.7387G>T (p.Glu2463Ter)
c.7399G>T (p.Glu2467Ter)
c.7378G>T (p.Glu2460Ter)
c.7033G>T (p.Glu2345Ter)
c.3379G>T (p.Glu1127Ter)
c.7273G>T (p.Glu2425Ter)
c.7264G>T (p.Glu2422Ter)
c.7279G>T (p.Glu2427Ter)
c.1576G>T (p.Glu526Ter)
 ClinVar dbSNP
Xg.31774100C=CA2422548653DMDc.2248G= (p.Glu750=)
c.22G= (p.Glu8=)
n.1063G=
n.985G=
n.894G=
c.7402G= (p.Glu2468=)
c.3370G= (p.Glu1124=)
c.391G= (p.Glu131=)
c.490G= (p.Glu164=)
c.7390G= (p.Glu2464=)
c.159G= (n.159G=)
c.7387G= (p.Glu2463=)
c.7399G= (p.Glu2467=)
c.7378G= (p.Glu2460=)
c.7033G= (p.Glu2345=)
c.3379G= (p.Glu1127=)
c.7273G= (p.Glu2425=)
c.7264G= (p.Glu2422=)
c.7279G= (p.Glu2427=)
c.1576G= (p.Glu526=)
Xg.31774100C>GCA412659005DMDc.2248G>C (p.Glu750Gln)
c.22G>C (p.Glu8Gln)
n.1063G>C
n.985G>C
n.894G>C
c.7402G>C (p.Glu2468Gln)
c.3370G>C (p.Glu1124Gln)
c.391G>C (p.Glu131Gln)
c.490G>C (p.Glu164Gln)
c.7390G>C (p.Glu2464Gln)
c.159G>C (n.159G>C)
c.7387G>C (p.Glu2463Gln)
c.7399G>C (p.Glu2467Gln)
c.7378G>C (p.Glu2460Gln)
c.7033G>C (p.Glu2345Gln)
c.3379G>C (p.Glu1127Gln)
c.7273G>C (p.Glu2425Gln)
c.7264G>C (p.Glu2422Gln)
c.7279G>C (p.Glu2427Gln)
c.1576G>C (p.Glu526Gln)
 ClinVar dbSNP
Xg.31774100C>TCA412659006DMDc.2248G>A (p.Glu750Lys)
c.22G>A (p.Glu8Lys)
n.1063G>A
n.985G>A
n.894G>A
c.7402G>A (p.Glu2468Lys)
c.3370G>A (p.Glu1124Lys)
c.391G>A (p.Glu131Lys)
c.490G>A (p.Glu164Lys)
c.7390G>A (p.Glu2464Lys)
c.159G>A (n.159G>A)
c.7387G>A (p.Glu2463Lys)
c.7399G>A (p.Glu2467Lys)
c.7378G>A (p.Glu2460Lys)
c.7033G>A (p.Glu2345Lys)
c.3379G>A (p.Glu1127Lys)
c.7273G>A (p.Glu2425Lys)
c.7264G>A (p.Glu2422Lys)
c.7279G>A (p.Glu2427Lys)
c.1576G>A (p.Glu526Lys)
Xg.31774100_31774101delinsATCA2695232450DMDc.2247_2248delinsAT (p.Leu750Ter)
c.21_22delinsAT (p.Leu8Ter)
n.1062_1063delinsAT
n.984_985delinsAT
n.893_894delinsAT
c.7401_7402delinsAT (p.Leu2468Ter)
c.3369_3370delinsAT (p.Leu1124Ter)
c.390_391delinsAT (p.Leu131Ter)
c.489_490delinsAT (p.Leu164Ter)
c.7389_7390delinsAT (p.Leu2464Ter)
c.158_159delinsAT (n.158_159delinsAT)
c.7386_7387delinsAT (p.Leu2463Ter)
c.7398_7399delinsAT (p.Leu2467Ter)
c.7377_7378delinsAT (p.Leu2460Ter)
c.7032_7033delinsAT (p.Leu2345Ter)
c.3378_3379delinsAT (p.Leu1127Ter)
c.7272_7273delinsAT (p.Leu2425Ter)
c.7263_7264delinsAT (p.Leu2422Ter)
c.7278_7279delinsAT (p.Leu2427Ter)
c.1575_1576delinsAT (p.Leu526Ter)
Xg.31774101delCA1132108675DMDc.2248del (p.Glu750ArgfsTer26)
c.22del (p.Glu8ArgfsTer26)
n.1063del
n.985del
n.894del
c.7402del (p.Glu2468ArgfsTer26)
c.3370del (p.Glu1124ArgfsTer26)
c.391del (p.Glu131ArgfsTer26)
c.490del (p.Glu164ArgfsTer26)
c.7390del (p.Glu2464ArgfsTer26)
c.159del (n.159del)
c.7387del (p.Glu2463ArgfsTer26)
c.7399del (p.Glu2467ArgfsTer26)
c.7378del (p.Glu2460ArgfsTer26)
c.7033del (p.Glu2345ArgfsTer26)
c.3379del (p.Glu1127ArgfsTer26)
c.7273del (p.Glu2425ArgfsTer26)
c.7264del (p.Glu2422ArgfsTer26)
c.7279del (p.Glu2427ArgfsTer26)
c.1576del (p.Glu526ArgfsTer26)
 gnomAD v3 gnomAD v4
Xg.31774101C>ACA412659007DMDc.2247G>T (p.Leu749Phe)
c.21G>T (p.Leu7Phe)
n.1062G>T
n.984G>T
n.893G>T
c.7401G>T (p.Leu2467Phe)
c.3369G>T (p.Leu1123Phe)
c.390G>T (p.Leu130Phe)
c.489G>T (p.Leu163Phe)
c.7389G>T (p.Leu2463Phe)
c.158G>T (n.158G>T)
c.7386G>T (p.Leu2462Phe)
c.7398G>T (p.Leu2466Phe)
c.7377G>T (p.Leu2459Phe)
c.7032G>T (p.Leu2344Phe)
c.3378G>T (p.Leu1126Phe)
c.7272G>T (p.Leu2424Phe)
c.7263G>T (p.Leu2421Phe)
c.7278G>T (p.Leu2426Phe)
c.1575G>T (p.Leu525Phe)
Xg.31774101C>GCA412659008DMDc.2247G>C (p.Leu749Phe)
c.21G>C (p.Leu7Phe)
n.1062G>C
n.984G>C
n.893G>C
c.7401G>C (p.Leu2467Phe)
c.3369G>C (p.Leu1123Phe)
c.390G>C (p.Leu130Phe)
c.489G>C (p.Leu163Phe)
c.7389G>C (p.Leu2463Phe)
c.158G>C (n.158G>C)
c.7386G>C (p.Leu2462Phe)
c.7398G>C (p.Leu2466Phe)
c.7377G>C (p.Leu2459Phe)
c.7032G>C (p.Leu2344Phe)
c.3378G>C (p.Leu1126Phe)
c.7272G>C (p.Leu2424Phe)
c.7263G>C (p.Leu2421Phe)
c.7278G>C (p.Leu2426Phe)
c.1575G>C (p.Leu525Phe)
Xg.31774101C>TCA515859375DMDc.2247G>A (p.Leu749=)
c.21G>A (p.Leu7=)
n.1062G>A
n.984G>A
n.893G>A
c.7401G>A (p.Leu2467=)
c.3369G>A (p.Leu1123=)
c.390G>A (p.Leu130=)
c.489G>A (p.Leu163=)
c.7389G>A (p.Leu2463=)
c.158G>A (n.158G>A)
c.7386G>A (p.Leu2462=)
c.7398G>A (p.Leu2466=)
c.7377G>A (p.Leu2459=)
c.7032G>A (p.Leu2344=)
c.3378G>A (p.Leu1126=)
c.7272G>A (p.Leu2424=)
c.7263G>A (p.Leu2421=)
c.7278G>A (p.Leu2426=)
c.1575G>A (p.Leu525=)
Xg.31774102A=CA2422548654DMDc.2246T= (p.Leu749=)
c.20T= (p.Leu7=)
n.1061T=
n.983T=
n.892T=
c.7400T= (p.Leu2467=)
c.3368T= (p.Leu1123=)
c.389T= (p.Leu130=)
c.488T= (p.Leu163=)
c.7388T= (p.Leu2463=)
c.157T= (n.157T=)
c.7385T= (p.Leu2462=)
c.7397T= (p.Leu2466=)
c.7376T= (p.Leu2459=)
c.7031T= (p.Leu2344=)
c.3377T= (p.Leu1126=)
c.7271T= (p.Leu2424=)
c.7262T= (p.Leu2421=)
c.7277T= (p.Leu2426=)
c.1574T= (p.Leu525=)
Xg.31774102A>CCA412659009DMDc.2246T>G (p.Leu749Trp)
c.20T>G (p.Leu7Trp)
n.1061T>G
n.983T>G
n.892T>G
c.7400T>G (p.Leu2467Trp)
c.3368T>G (p.Leu1123Trp)
c.389T>G (p.Leu130Trp)
c.488T>G (p.Leu163Trp)
c.7388T>G (p.Leu2463Trp)
c.157T>G (n.157T>G)
c.7385T>G (p.Leu2462Trp)
c.7397T>G (p.Leu2466Trp)
c.7376T>G (p.Leu2459Trp)
c.7031T>G (p.Leu2344Trp)
c.3377T>G (p.Leu1126Trp)
c.7271T>G (p.Leu2424Trp)
c.7262T>G (p.Leu2421Trp)
c.7277T>G (p.Leu2426Trp)
c.1574T>G (p.Leu525Trp)
Xg.31774102A>GCA412659010DMDc.2246T>C (p.Leu749Ser)
c.20T>C (p.Leu7Ser)
n.1061T>C
n.983T>C
n.892T>C
c.7400T>C (p.Leu2467Ser)
c.3368T>C (p.Leu1123Ser)
c.389T>C (p.Leu130Ser)
c.488T>C (p.Leu163Ser)
c.7388T>C (p.Leu2463Ser)
c.157T>C (n.157T>C)
c.7385T>C (p.Leu2462Ser)
c.7397T>C (p.Leu2466Ser)
c.7376T>C (p.Leu2459Ser)
c.7031T>C (p.Leu2344Ser)
c.3377T>C (p.Leu1126Ser)
c.7271T>C (p.Leu2424Ser)
c.7262T>C (p.Leu2421Ser)
c.7277T>C (p.Leu2426Ser)
c.1574T>C (p.Leu525Ser)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774102A>TCA412659011DMDc.2246T>A (p.Leu749Ter)
c.20T>A (p.Leu7Ter)
n.1061T>A
n.983T>A
n.892T>A
c.7400T>A (p.Leu2467Ter)
c.3368T>A (p.Leu1123Ter)
c.389T>A (p.Leu130Ter)
c.488T>A (p.Leu163Ter)
c.7388T>A (p.Leu2463Ter)
c.157T>A (n.157T>A)
c.7385T>A (p.Leu2462Ter)
c.7397T>A (p.Leu2466Ter)
c.7376T>A (p.Leu2459Ter)
c.7031T>A (p.Leu2344Ter)
c.3377T>A (p.Leu1126Ter)
c.7271T>A (p.Leu2424Ter)
c.7262T>A (p.Leu2421Ter)
c.7277T>A (p.Leu2426Ter)
c.1574T>A (p.Leu525Ter)
 ClinVar dbSNP
Xg.31774103delCA2695232452DMDc.2246del (p.Leu749TrpfsTer27)
c.20del (p.Leu7TrpfsTer27)
n.1061del
n.983del
n.892del
c.7400del (p.Leu2467TrpfsTer27)
c.3368del (p.Leu1123TrpfsTer27)
c.389del (p.Leu130TrpfsTer27)
c.488del (p.Leu163TrpfsTer27)
c.7388del (p.Leu2463TrpfsTer27)
c.157del (n.157del)
c.7385del (p.Leu2462TrpfsTer27)
c.7397del (p.Leu2466TrpfsTer27)
c.7376del (p.Leu2459TrpfsTer27)
c.7031del (p.Leu2344TrpfsTer27)
c.3377del (p.Leu1126TrpfsTer27)
c.7271del (p.Leu2424TrpfsTer27)
c.7262del (p.Leu2421TrpfsTer27)
c.7277del (p.Leu2426TrpfsTer27)
c.1574del (p.Leu525TrpfsTer27)
Xg.31774103A>CCA412659012DMDc.2245T>G (p.Leu749Val)
c.19T>G (p.Leu7Val)
n.1060T>G
n.982T>G
n.891T>G
c.7399T>G (p.Leu2467Val)
c.3367T>G (p.Leu1123Val)
c.388T>G (p.Leu130Val)
c.487T>G (p.Leu163Val)
c.7387T>G (p.Leu2463Val)
c.156T>G (n.156T>G)
c.7384T>G (p.Leu2462Val)
c.7396T>G (p.Leu2466Val)
c.7375T>G (p.Leu2459Val)
c.7030T>G (p.Leu2344Val)
c.3376T>G (p.Leu1126Val)
c.7270T>G (p.Leu2424Val)
c.7261T>G (p.Leu2421Val)
c.7276T>G (p.Leu2426Val)
c.1573T>G (p.Leu525Val)
Xg.31774103A>GCA515859376DMDc.2245T>C (p.Leu749=)
c.19T>C (p.Leu7=)
n.1060T>C
n.982T>C
n.891T>C
c.7399T>C (p.Leu2467=)
c.3367T>C (p.Leu1123=)
c.388T>C (p.Leu130=)
c.487T>C (p.Leu163=)
c.7387T>C (p.Leu2463=)
c.156T>C (n.156T>C)
c.7384T>C (p.Leu2462=)
c.7396T>C (p.Leu2466=)
c.7375T>C (p.Leu2459=)
c.7030T>C (p.Leu2344=)
c.3376T>C (p.Leu1126=)
c.7270T>C (p.Leu2424=)
c.7261T>C (p.Leu2421=)
c.7276T>C (p.Leu2426=)
c.1573T>C (p.Leu525=)
 ClinVar
Xg.31774103A>TCA412659013DMDc.2245T>A (p.Leu749Met)
c.19T>A (p.Leu7Met)
n.1060T>A
n.982T>A
n.891T>A
c.7399T>A (p.Leu2467Met)
c.3367T>A (p.Leu1123Met)
c.388T>A (p.Leu130Met)
c.487T>A (p.Leu163Met)
c.7387T>A (p.Leu2463Met)
c.156T>A (n.156T>A)
c.7384T>A (p.Leu2462Met)
c.7396T>A (p.Leu2466Met)
c.7375T>A (p.Leu2459Met)
c.7030T>A (p.Leu2344Met)
c.3376T>A (p.Leu1126Met)
c.7270T>A (p.Leu2424Met)
c.7261T>A (p.Leu2421Met)
c.7276T>A (p.Leu2426Met)
c.1573T>A (p.Leu525Met)
Xg.31774104delCA2739268133DMDc.2244del (p.Met748IlefsTer28)
c.18del (p.Met6IlefsTer28)
n.1059del
n.981del
n.890del
c.7398del (p.Met2466IlefsTer28)
c.3366del (p.Met1122IlefsTer28)
c.387del (p.Met129IlefsTer28)
c.486del (p.Met162IlefsTer28)
c.7386del (p.Met2462IlefsTer28)
c.155del (n.155del)
c.7383del (p.Met2461IlefsTer28)
c.7395del (p.Met2465IlefsTer28)
c.7374del (p.Met2458IlefsTer28)
c.7029del (p.Met2343IlefsTer28)
c.3375del (p.Met1125IlefsTer28)
c.7269del (p.Met2423IlefsTer28)
c.7260del (p.Met2420IlefsTer28)
c.7275del (p.Met2425IlefsTer28)
c.1572del (p.Met524IlefsTer28)
 ClinVar
Xg.31774104C>ACA412659016DMDc.2244G>T (p.Met748Ile)
c.18G>T (p.Met6Ile)
n.1059G>T
n.981G>T
n.890G>T
c.7398G>T (p.Met2466Ile)
c.3366G>T (p.Met1122Ile)
c.387G>T (p.Met129Ile)
c.486G>T (p.Met162Ile)
c.7386G>T (p.Met2462Ile)
c.155G>T (n.155G>T)
c.7383G>T (p.Met2461Ile)
c.7395G>T (p.Met2465Ile)
c.7374G>T (p.Met2458Ile)
c.7029G>T (p.Met2343Ile)
c.3375G>T (p.Met1125Ile)
c.7269G>T (p.Met2423Ile)
c.7260G>T (p.Met2420Ile)
c.7275G>T (p.Met2425Ile)
c.1572G>T (p.Met524Ile)
Xg.31774104C>GCA412659014DMDc.2244G>C (p.Met748Ile)
c.18G>C (p.Met6Ile)
n.1059G>C
n.981G>C
n.890G>C
c.7398G>C (p.Met2466Ile)
c.3366G>C (p.Met1122Ile)
c.387G>C (p.Met129Ile)
c.486G>C (p.Met162Ile)
c.7386G>C (p.Met2462Ile)
c.155G>C (n.155G>C)
c.7383G>C (p.Met2461Ile)
c.7395G>C (p.Met2465Ile)
c.7374G>C (p.Met2458Ile)
c.7029G>C (p.Met2343Ile)
c.3375G>C (p.Met1125Ile)
c.7269G>C (p.Met2423Ile)
c.7260G>C (p.Met2420Ile)
c.7275G>C (p.Met2425Ile)
c.1572G>C (p.Met524Ile)
Xg.31774104C>TCA412659015DMDc.2244G>A (p.Met748Ile)
c.18G>A (p.Met6Ile)
n.1059G>A
n.981G>A
n.890G>A
c.7398G>A (p.Met2466Ile)
c.3366G>A (p.Met1122Ile)
c.387G>A (p.Met129Ile)
c.486G>A (p.Met162Ile)
c.7386G>A (p.Met2462Ile)
c.155G>A (n.155G>A)
c.7383G>A (p.Met2461Ile)
c.7395G>A (p.Met2465Ile)
c.7374G>A (p.Met2458Ile)
c.7029G>A (p.Met2343Ile)
c.3375G>A (p.Met1125Ile)
c.7269G>A (p.Met2423Ile)
c.7260G>A (p.Met2420Ile)
c.7275G>A (p.Met2425Ile)
c.1572G>A (p.Met524Ile)
Xg.31774105A=CA2422548655DMDc.2243T= (p.Met748=)
c.17T= (p.Met6=)
n.1058T=
n.980T=
n.889T=
c.7397T= (p.Met2466=)
c.3365T= (p.Met1122=)
c.386T= (p.Met129=)
c.485T= (p.Met162=)
c.7385T= (p.Met2462=)
c.154T= (n.154T=)
c.7382T= (p.Met2461=)
c.7394T= (p.Met2465=)
c.7373T= (p.Met2458=)
c.7028T= (p.Met2343=)
c.3374T= (p.Met1125=)
c.7268T= (p.Met2423=)
c.7259T= (p.Met2420=)
c.7274T= (p.Met2425=)
c.1571T= (p.Met524=)
Xg.31774105A>CCA412659017DMDc.2243T>G (p.Met748Arg)
c.17T>G (p.Met6Arg)
n.1058T>G
n.980T>G
n.889T>G
c.7397T>G (p.Met2466Arg)
c.3365T>G (p.Met1122Arg)
c.386T>G (p.Met129Arg)
c.485T>G (p.Met162Arg)
c.7385T>G (p.Met2462Arg)
c.154T>G (n.154T>G)
c.7382T>G (p.Met2461Arg)
c.7394T>G (p.Met2465Arg)
c.7373T>G (p.Met2458Arg)
c.7028T>G (p.Met2343Arg)
c.3374T>G (p.Met1125Arg)
c.7268T>G (p.Met2423Arg)
c.7259T>G (p.Met2420Arg)
c.7274T>G (p.Met2425Arg)
c.1571T>G (p.Met524Arg)
Xg.31774105A>GCA10378281DMDc.2243T>C (p.Met748Thr)
c.17T>C (p.Met6Thr)
n.1058T>C
n.980T>C
n.889T>C
c.7397T>C (p.Met2466Thr)
c.3365T>C (p.Met1122Thr)
c.386T>C (p.Met129Thr)
c.485T>C (p.Met162Thr)
c.7385T>C (p.Met2462Thr)
c.154T>C (n.154T>C)
c.7382T>C (p.Met2461Thr)
c.7394T>C (p.Met2465Thr)
c.7373T>C (p.Met2458Thr)
c.7028T>C (p.Met2343Thr)
c.3374T>C (p.Met1125Thr)
c.7268T>C (p.Met2423Thr)
c.7259T>C (p.Met2420Thr)
c.7274T>C (p.Met2425Thr)
c.1571T>C (p.Met524Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774105A>TCA412659018DMDc.2243T>A (p.Met748Lys)
c.17T>A (p.Met6Lys)
n.1058T>A
n.980T>A
n.889T>A
c.7397T>A (p.Met2466Lys)
c.3365T>A (p.Met1122Lys)
c.386T>A (p.Met129Lys)
c.485T>A (p.Met162Lys)
c.7385T>A (p.Met2462Lys)
c.154T>A (n.154T>A)
c.7382T>A (p.Met2461Lys)
c.7394T>A (p.Met2465Lys)
c.7373T>A (p.Met2458Lys)
c.7028T>A (p.Met2343Lys)
c.3374T>A (p.Met1125Lys)
c.7268T>A (p.Met2423Lys)
c.7259T>A (p.Met2420Lys)
c.7274T>A (p.Met2425Lys)
c.1571T>A (p.Met524Lys)
 gnomAD v4
Xg.31774106T>ACA412659019DMDc.2242A>T (p.Met748Leu)
c.16A>T (p.Met6Leu)
n.1057A>T
n.979A>T
n.888A>T
c.7396A>T (p.Met2466Leu)
c.3364A>T (p.Met1122Leu)
c.385A>T (p.Met129Leu)
c.484A>T (p.Met162Leu)
c.7384A>T (p.Met2462Leu)
c.153A>T (n.153A>T)
c.7381A>T (p.Met2461Leu)
c.7393A>T (p.Met2465Leu)
c.7372A>T (p.Met2458Leu)
c.7027A>T (p.Met2343Leu)
c.3373A>T (p.Met1125Leu)
c.7267A>T (p.Met2423Leu)
c.7258A>T (p.Met2420Leu)
c.7273A>T (p.Met2425Leu)
c.1570A>T (p.Met524Leu)
Xg.31774106T>CCA412659020DMDc.2242A>G (p.Met748Val)
c.16A>G (p.Met6Val)
n.1057A>G
n.979A>G
n.888A>G
c.7396A>G (p.Met2466Val)
c.3364A>G (p.Met1122Val)
c.385A>G (p.Met129Val)
c.484A>G (p.Met162Val)
c.7384A>G (p.Met2462Val)
c.153A>G (n.153A>G)
c.7381A>G (p.Met2461Val)
c.7393A>G (p.Met2465Val)
c.7372A>G (p.Met2458Val)
c.7027A>G (p.Met2343Val)
c.3373A>G (p.Met1125Val)
c.7267A>G (p.Met2423Val)
c.7258A>G (p.Met2420Val)
c.7273A>G (p.Met2425Val)
c.1570A>G (p.Met524Val)
Xg.31774106T>GCA412659021DMDc.2242A>C (p.Met748Leu)
c.16A>C (p.Met6Leu)
n.1057A>C
n.979A>C
n.888A>C
c.7396A>C (p.Met2466Leu)
c.3364A>C (p.Met1122Leu)
c.385A>C (p.Met129Leu)
c.484A>C (p.Met162Leu)
c.7384A>C (p.Met2462Leu)
c.153A>C (n.153A>C)
c.7381A>C (p.Met2461Leu)
c.7393A>C (p.Met2465Leu)
c.7372A>C (p.Met2458Leu)
c.7027A>C (p.Met2343Leu)
c.3373A>C (p.Met1125Leu)
c.7267A>C (p.Met2423Leu)
c.7258A>C (p.Met2420Leu)
c.7273A>C (p.Met2425Leu)
c.1570A>C (p.Met524Leu)
Xg.31774107delCA2580100608DMDc.2241del (p.Met748CysfsTer28)
c.15del (p.Met6CysfsTer28)
n.1056del
n.978del
n.887del
c.7395del (p.Met2466CysfsTer28)
c.3363del (p.Met1122CysfsTer28)
c.384del (p.Met129CysfsTer28)
c.483del (p.Met162CysfsTer28)
c.7383del (p.Met2462CysfsTer28)
c.152del (n.152del)
c.7380del (p.Met2461CysfsTer28)
c.7392del (p.Met2465CysfsTer28)
c.7371del (p.Met2458CysfsTer28)
c.7026del (p.Met2343CysfsTer28)
c.3372del (p.Met1125CysfsTer28)
c.7266del (p.Met2423CysfsTer28)
c.7257del (p.Met2420CysfsTer28)
c.7272del (p.Met2425CysfsTer28)
c.1569del (p.Met524CysfsTer28)
 ClinVar dbSNP
Xg.31774107C>ACA412659022DMDc.2241G>T (p.Leu747Phe)
c.15G>T (p.Leu5Phe)
n.1056G>T
n.978G>T
n.887G>T
c.7395G>T (p.Leu2465Phe)
c.3363G>T (p.Leu1121Phe)
c.384G>T (p.Leu128Phe)
c.483G>T (p.Leu161Phe)
c.7383G>T (p.Leu2461Phe)
c.152G>T (n.152G>T)
c.7380G>T (p.Leu2460Phe)
c.7392G>T (p.Leu2464Phe)
c.7371G>T (p.Leu2457Phe)
c.7026G>T (p.Leu2342Phe)
c.3372G>T (p.Leu1124Phe)
c.7266G>T (p.Leu2422Phe)
c.7257G>T (p.Leu2419Phe)
c.7272G>T (p.Leu2424Phe)
c.1569G>T (p.Leu523Phe)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774107C>GCA412659023DMDc.2241G>C (p.Leu747Phe)
c.15G>C (p.Leu5Phe)
n.1056G>C
n.978G>C
n.887G>C
c.7395G>C (p.Leu2465Phe)
c.3363G>C (p.Leu1121Phe)
c.384G>C (p.Leu128Phe)
c.483G>C (p.Leu161Phe)
c.7383G>C (p.Leu2461Phe)
c.152G>C (n.152G>C)
c.7380G>C (p.Leu2460Phe)
c.7392G>C (p.Leu2464Phe)
c.7371G>C (p.Leu2457Phe)
c.7026G>C (p.Leu2342Phe)
c.3372G>C (p.Leu1124Phe)
c.7266G>C (p.Leu2422Phe)
c.7257G>C (p.Leu2419Phe)
c.7272G>C (p.Leu2424Phe)
c.1569G>C (p.Leu523Phe)
Xg.31774107C>TCA515859377DMDc.2241G>A (p.Leu747=)
c.15G>A (p.Leu5=)
n.1056G>A
n.978G>A
n.887G>A
c.7395G>A (p.Leu2465=)
c.3363G>A (p.Leu1121=)
c.384G>A (p.Leu128=)
c.483G>A (p.Leu161=)
c.7383G>A (p.Leu2461=)
c.152G>A (n.152G>A)
c.7380G>A (p.Leu2460=)
c.7392G>A (p.Leu2464=)
c.7371G>A (p.Leu2457=)
c.7026G>A (p.Leu2342=)
c.3372G>A (p.Leu1124=)
c.7266G>A (p.Leu2422=)
c.7257G>A (p.Leu2419=)
c.7272G>A (p.Leu2424=)
c.1569G>A (p.Leu523=)
Xg.31774108A>CCA412659024DMDc.2240T>G (p.Leu747Trp)
c.14T>G (p.Leu5Trp)
n.1055T>G
n.977T>G
n.886T>G
c.7394T>G (p.Leu2465Trp)
c.3362T>G (p.Leu1121Trp)
c.383T>G (p.Leu128Trp)
c.482T>G (p.Leu161Trp)
c.7382T>G (p.Leu2461Trp)
c.151T>G (n.151T>G)
c.7379T>G (p.Leu2460Trp)
c.7391T>G (p.Leu2464Trp)
c.7370T>G (p.Leu2457Trp)
c.7025T>G (p.Leu2342Trp)
c.3371T>G (p.Leu1124Trp)
c.7265T>G (p.Leu2422Trp)
c.7256T>G (p.Leu2419Trp)
c.7271T>G (p.Leu2424Trp)
c.1568T>G (p.Leu523Trp)
Xg.31774108A>GCA412659025DMDc.2240T>C (p.Leu747Ser)
c.14T>C (p.Leu5Ser)
n.1055T>C
n.977T>C
n.886T>C
c.7394T>C (p.Leu2465Ser)
c.3362T>C (p.Leu1121Ser)
c.383T>C (p.Leu128Ser)
c.482T>C (p.Leu161Ser)
c.7382T>C (p.Leu2461Ser)
c.151T>C (n.151T>C)
c.7379T>C (p.Leu2460Ser)
c.7391T>C (p.Leu2464Ser)
c.7370T>C (p.Leu2457Ser)
c.7025T>C (p.Leu2342Ser)
c.3371T>C (p.Leu1124Ser)
c.7265T>C (p.Leu2422Ser)
c.7256T>C (p.Leu2419Ser)
c.7271T>C (p.Leu2424Ser)
c.1568T>C (p.Leu523Ser)
Xg.31774108A>TCA412659026DMDc.2240T>A (p.Leu747Ter)
c.14T>A (p.Leu5Ter)
n.1055T>A
n.977T>A
n.886T>A
c.7394T>A (p.Leu2465Ter)
c.3362T>A (p.Leu1121Ter)
c.383T>A (p.Leu128Ter)
c.482T>A (p.Leu161Ter)
c.7382T>A (p.Leu2461Ter)
c.151T>A (n.151T>A)
c.7379T>A (p.Leu2460Ter)
c.7391T>A (p.Leu2464Ter)
c.7370T>A (p.Leu2457Ter)
c.7025T>A (p.Leu2342Ter)
c.3371T>A (p.Leu1124Ter)
c.7265T>A (p.Leu2422Ter)
c.7256T>A (p.Leu2419Ter)
c.7271T>A (p.Leu2424Ter)
c.1568T>A (p.Leu523Ter)
Xg.31774111_31774114delCA2695232457DMDc.2237_2240del (p.Ser746Ter)
c.11_14del (p.Ser4Ter)
n.1052_1055del
n.974_977del
n.883_886del
c.7391_7394del (p.Ser2464Ter)
c.3359_3362del (p.Ser1120Ter)
c.380_383del (p.Ser127Ter)
c.479_482del (p.Ser160Ter)
c.7379_7382del (p.Ser2460Ter)
c.148_151del (n.148_151del)
c.7376_7379del (p.Ser2459Ter)
c.7388_7391del (p.Ser2463Ter)
c.7367_7370del (p.Ser2456Ter)
c.7022_7025del (p.Ser2341Ter)
c.3368_3371del (p.Ser1123Ter)
c.7262_7265del (p.Ser2421Ter)
c.7253_7256del (p.Ser2418Ter)
c.7268_7271del (p.Ser2423Ter)
c.1565_1568del (p.Ser522Ter)
Xg.31774109A>CCA412659027DMDc.2239T>G (p.Leu747Val)
c.13T>G (p.Leu5Val)
n.1054T>G
n.976T>G
n.885T>G
c.7393T>G (p.Leu2465Val)
c.3361T>G (p.Leu1121Val)
c.382T>G (p.Leu128Val)
c.481T>G (p.Leu161Val)
c.7381T>G (p.Leu2461Val)
c.150T>G (n.150T>G)
c.7378T>G (p.Leu2460Val)
c.7390T>G (p.Leu2464Val)
c.7369T>G (p.Leu2457Val)
c.7024T>G (p.Leu2342Val)
c.3370T>G (p.Leu1124Val)
c.7264T>G (p.Leu2422Val)
c.7255T>G (p.Leu2419Val)
c.7270T>G (p.Leu2424Val)
c.1567T>G (p.Leu523Val)
Xg.31774109A>GCA515859378DMDc.2239T>C (p.Leu747=)
c.13T>C (p.Leu5=)
n.1054T>C
n.976T>C
n.885T>C
c.7393T>C (p.Leu2465=)
c.3361T>C (p.Leu1121=)
c.382T>C (p.Leu128=)
c.481T>C (p.Leu161=)
c.7381T>C (p.Leu2461=)
c.150T>C (n.150T>C)
c.7378T>C (p.Leu2460=)
c.7390T>C (p.Leu2464=)
c.7369T>C (p.Leu2457=)
c.7024T>C (p.Leu2342=)
c.3370T>C (p.Leu1124=)
c.7264T>C (p.Leu2422=)
c.7255T>C (p.Leu2419=)
c.7270T>C (p.Leu2424=)
c.1567T>C (p.Leu523=)
 gnomAD v4
Xg.31774109A>TCA412659028DMDc.2239T>A (p.Leu747Met)
c.13T>A (p.Leu5Met)
n.1054T>A
n.976T>A
n.885T>A
c.7393T>A (p.Leu2465Met)
c.3361T>A (p.Leu1121Met)
c.382T>A (p.Leu128Met)
c.481T>A (p.Leu161Met)
c.7381T>A (p.Leu2461Met)
c.150T>A (n.150T>A)
c.7378T>A (p.Leu2460Met)
c.7390T>A (p.Leu2464Met)
c.7369T>A (p.Leu2457Met)
c.7024T>A (p.Leu2342Met)
c.3370T>A (p.Leu1124Met)
c.7264T>A (p.Leu2422Met)
c.7255T>A (p.Leu2419Met)
c.7270T>A (p.Leu2424Met)
c.1567T>A (p.Leu523Met)
Xg.31774110G>ACA515859379DMDc.2238C>T (p.Ser746=)
c.12C>T (p.Ser4=)
n.1053C>T
n.975C>T
n.884C>T
c.7392C>T (p.Ser2464=)
c.3360C>T (p.Ser1120=)
c.381C>T (p.Ser127=)
c.480C>T (p.Ser160=)
c.7380C>T (p.Ser2460=)
c.149C>T (n.149C>T)
c.7377C>T (p.Ser2459=)
c.7389C>T (p.Ser2463=)
c.7368C>T (p.Ser2456=)
c.7023C>T (p.Ser2341=)
c.3369C>T (p.Ser1123=)
c.7263C>T (p.Ser2421=)
c.7254C>T (p.Ser2418=)
c.7269C>T (p.Ser2423=)
c.1566C>T (p.Ser522=)
 ClinVar dbSNP
Xg.31774110G>CCA515859380DMDc.2238C>G (p.Ser746=)
c.12C>G (p.Ser4=)
n.1053C>G
n.975C>G
n.884C>G
c.7392C>G (p.Ser2464=)
c.3360C>G (p.Ser1120=)
c.381C>G (p.Ser127=)
c.480C>G (p.Ser160=)
c.7380C>G (p.Ser2460=)
c.149C>G (n.149C>G)
c.7377C>G (p.Ser2459=)
c.7389C>G (p.Ser2463=)
c.7368C>G (p.Ser2456=)
c.7023C>G (p.Ser2341=)
c.3369C>G (p.Ser1123=)
c.7263C>G (p.Ser2421=)
c.7254C>G (p.Ser2418=)
c.7269C>G (p.Ser2423=)
c.1566C>G (p.Ser522=)
Xg.31774110G=CA2422548656DMDc.2238C= (p.Ser746=)
c.12C= (p.Ser4=)
n.1053C=
n.975C=
n.884C=
c.7392C= (p.Ser2464=)
c.3360C= (p.Ser1120=)
c.381C= (p.Ser127=)
c.480C= (p.Ser160=)
c.7380C= (p.Ser2460=)
c.149C= (n.149C=)
c.7377C= (p.Ser2459=)
c.7389C= (p.Ser2463=)
c.7368C= (p.Ser2456=)
c.7023C= (p.Ser2341=)
c.3369C= (p.Ser1123=)
c.7263C= (p.Ser2421=)
c.7254C= (p.Ser2418=)
c.7269C= (p.Ser2423=)
c.1566C= (p.Ser522=)
Xg.31774110G>TCA515859381DMDc.2238C>A (p.Ser746=)
c.12C>A (p.Ser4=)
n.1053C>A
n.975C>A
n.884C>A
c.7392C>A (p.Ser2464=)
c.3360C>A (p.Ser1120=)
c.381C>A (p.Ser127=)
c.480C>A (p.Ser160=)
c.7380C>A (p.Ser2460=)
c.149C>A (n.149C>A)
c.7377C>A (p.Ser2459=)
c.7389C>A (p.Ser2463=)
c.7368C>A (p.Ser2456=)
c.7023C>A (p.Ser2341=)
c.3369C>A (p.Ser1123=)
c.7263C>A (p.Ser2421=)
c.7254C>A (p.Ser2418=)
c.7269C>A (p.Ser2423=)
c.1566C>A (p.Ser522=)
Xg.31774111G>ACA412659029DMDc.2237C>T (p.Ser746Phe)
c.11C>T (p.Ser4Phe)
n.1052C>T
n.974C>T
n.883C>T
c.7391C>T (p.Ser2464Phe)
c.3359C>T (p.Ser1120Phe)
c.380C>T (p.Ser127Phe)
c.479C>T (p.Ser160Phe)
c.7379C>T (p.Ser2460Phe)
c.148C>T (n.148C>T)
c.7376C>T (p.Ser2459Phe)
c.7388C>T (p.Ser2463Phe)
c.7367C>T (p.Ser2456Phe)
c.7022C>T (p.Ser2341Phe)
c.3368C>T (p.Ser1123Phe)
c.7262C>T (p.Ser2421Phe)
c.7253C>T (p.Ser2418Phe)
c.7268C>T (p.Ser2423Phe)
c.1565C>T (p.Ser522Phe)
 gnomAD v4
Xg.31774111G>CCA412659031DMDc.2237C>G (p.Ser746Cys)
c.11C>G (p.Ser4Cys)
n.1052C>G
n.974C>G
n.883C>G
c.7391C>G (p.Ser2464Cys)
c.3359C>G (p.Ser1120Cys)
c.380C>G (p.Ser127Cys)
c.479C>G (p.Ser160Cys)
c.7379C>G (p.Ser2460Cys)
c.148C>G (n.148C>G)
c.7376C>G (p.Ser2459Cys)
c.7388C>G (p.Ser2463Cys)
c.7367C>G (p.Ser2456Cys)
c.7022C>G (p.Ser2341Cys)
c.3368C>G (p.Ser1123Cys)
c.7262C>G (p.Ser2421Cys)
c.7253C>G (p.Ser2418Cys)
c.7268C>G (p.Ser2423Cys)
c.1565C>G (p.Ser522Cys)
Xg.31774111G>TCA412659030DMDc.2237C>A (p.Ser746Tyr)
c.11C>A (p.Ser4Tyr)
n.1052C>A
n.974C>A
n.883C>A
c.7391C>A (p.Ser2464Tyr)
c.3359C>A (p.Ser1120Tyr)
c.380C>A (p.Ser127Tyr)
c.479C>A (p.Ser160Tyr)
c.7379C>A (p.Ser2460Tyr)
c.148C>A (n.148C>A)
c.7376C>A (p.Ser2459Tyr)
c.7388C>A (p.Ser2463Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7022C>A (p.Ser2341Tyr)
c.3368C>A (p.Ser1123Tyr)
c.7262C>A (p.Ser2421Tyr)
c.7253C>A (p.Ser2418Tyr)
c.7268C>A (p.Ser2423Tyr)
c.1565C>A (p.Ser522Tyr)
Xg.31774111_31774112delinsATCA2580100609DMDc.2236_2237delinsAT (p.Ser746Ile)
c.10_11delinsAT (p.Ser4Ile)
n.1051_1052delinsAT
n.973_974delinsAT
n.882_883delinsAT
c.7390_7391delinsAT (p.Ser2464Ile)
c.3358_3359delinsAT (p.Ser1120Ile)
c.379_380delinsAT (p.Ser127Ile)
c.478_479delinsAT (p.Ser160Ile)
c.7378_7379delinsAT (p.Ser2460Ile)
c.147_148delinsAT (n.147_148delinsAT)
c.7375_7376delinsAT (p.Ser2459Ile)
c.7387_7388delinsAT (p.Ser2463Ile)
c.7366_7367delinsAT (p.Ser2456Ile)
c.7021_7022delinsAT (p.Ser2341Ile)
c.3367_3368delinsAT (p.Ser1123Ile)
c.7261_7262delinsAT (p.Ser2421Ile)
c.7252_7253delinsAT (p.Ser2418Ile)
c.7267_7268delinsAT (p.Ser2423Ile)
c.1564_1565delinsAT (p.Ser522Ile)
 ClinVar
Xg.31774112A>CCA412659032DMDc.2236T>G (p.Ser746Ala)
c.10T>G (p.Ser4Ala)
n.1051T>G
n.973T>G
n.882T>G
c.7390T>G (p.Ser2464Ala)
c.3358T>G (p.Ser1120Ala)
c.379T>G (p.Ser127Ala)
c.478T>G (p.Ser160Ala)
c.7378T>G (p.Ser2460Ala)
c.147T>G (n.147T>G)
c.7375T>G (p.Ser2459Ala)
c.7387T>G (p.Ser2463Ala)
c.7366T>G (p.Ser2456Ala)
c.7021T>G (p.Ser2341Ala)
c.3367T>G (p.Ser1123Ala)
c.7261T>G (p.Ser2421Ala)
c.7252T>G (p.Ser2418Ala)
c.7267T>G (p.Ser2423Ala)
c.1564T>G (p.Ser522Ala)
Xg.31774112A>GCA412659033DMDc.2236T>C (p.Ser746Pro)
c.10T>C (p.Ser4Pro)
n.1051T>C
n.973T>C
n.882T>C
c.7390T>C (p.Ser2464Pro)
c.3358T>C (p.Ser1120Pro)
c.379T>C (p.Ser127Pro)
c.478T>C (p.Ser160Pro)
c.7378T>C (p.Ser2460Pro)
c.147T>C (n.147T>C)
c.7375T>C (p.Ser2459Pro)
c.7387T>C (p.Ser2463Pro)
c.7366T>C (p.Ser2456Pro)
c.7021T>C (p.Ser2341Pro)
c.3367T>C (p.Ser1123Pro)
c.7261T>C (p.Ser2421Pro)
c.7252T>C (p.Ser2418Pro)
c.7267T>C (p.Ser2423Pro)
c.1564T>C (p.Ser522Pro)
Xg.31774112A>TCA412659034DMDc.2236T>A (p.Ser746Thr)
c.10T>A (p.Ser4Thr)
n.1051T>A
n.973T>A
n.882T>A
c.7390T>A (p.Ser2464Thr)
c.3358T>A (p.Ser1120Thr)
c.379T>A (p.Ser127Thr)
c.478T>A (p.Ser160Thr)
c.7378T>A (p.Ser2460Thr)
c.147T>A (n.147T>A)
c.7375T>A (p.Ser2459Thr)
c.7387T>A (p.Ser2463Thr)
c.7366T>A (p.Ser2456Thr)
c.7021T>A (p.Ser2341Thr)
c.3367T>A (p.Ser1123Thr)
c.7261T>A (p.Ser2421Thr)
c.7252T>A (p.Ser2418Thr)
c.7267T>A (p.Ser2423Thr)
c.1564T>A (p.Ser522Thr)
 gnomAD v4
Xg.31774113A>CCA515859382DMDc.2235T>G (p.Ser745=)
c.9T>G (p.Ser3=)
n.1050T>G
n.972T>G
n.881T>G
c.7389T>G (p.Ser2463=)
c.3357T>G (p.Ser1119=)
c.378T>G (p.Ser126=)
c.477T>G (p.Ser159=)
c.7377T>G (p.Ser2459=)
c.146T>G (n.146T>G)
c.7374T>G (p.Ser2458=)
c.7386T>G (p.Ser2462=)
c.7365T>G (p.Ser2455=)
c.7020T>G (p.Ser2340=)
c.3366T>G (p.Ser1122=)
c.7260T>G (p.Ser2420=)
c.7251T>G (p.Ser2417=)
c.7266T>G (p.Ser2422=)
c.1563T>G (p.Ser521=)
Xg.31774113A>GCA515859383DMDc.2235T>C (p.Ser745=)
c.9T>C (p.Ser3=)
n.1050T>C
n.972T>C
n.881T>C
c.7389T>C (p.Ser2463=)
c.3357T>C (p.Ser1119=)
c.378T>C (p.Ser126=)
c.477T>C (p.Ser159=)
c.7377T>C (p.Ser2459=)
c.146T>C (n.146T>C)
c.7374T>C (p.Ser2458=)
c.7386T>C (p.Ser2462=)
c.7365T>C (p.Ser2455=)
c.7020T>C (p.Ser2340=)
c.3366T>C (p.Ser1122=)
c.7260T>C (p.Ser2420=)
c.7251T>C (p.Ser2417=)
c.7266T>C (p.Ser2422=)
c.1563T>C (p.Ser521=)
Xg.31774113A>TCA515859384DMDc.2235T>A (p.Ser745=)
c.9T>A (p.Ser3=)
n.1050T>A
n.972T>A
n.881T>A
c.7389T>A (p.Ser2463=)
c.3357T>A (p.Ser1119=)
c.378T>A (p.Ser126=)
c.477T>A (p.Ser159=)
c.7377T>A (p.Ser2459=)
c.146T>A (n.146T>A)
c.7374T>A (p.Ser2458=)
c.7386T>A (p.Ser2462=)
c.7365T>A (p.Ser2455=)
c.7020T>A (p.Ser2340=)
c.3366T>A (p.Ser1122=)
c.7260T>A (p.Ser2420=)
c.7251T>A (p.Ser2417=)
c.7266T>A (p.Ser2422=)
c.1563T>A (p.Ser521=)
Xg.31774121_31774140delCA2695232459DMDc.2216_2235del (p.Ser739PhefsTer27)
c.-11_9del
n.1031_1050del
n.953_972del
n.862_881del
c.7370_7389del (p.Ser2457PhefsTer27)
c.3338_3357del (p.Ser1113PhefsTer27)
c.359_378del (p.Ser120PhefsTer27)
c.458_477del (p.Ser153PhefsTer27)
c.7358_7377del (p.Ser2453PhefsTer27)
c.127_146del (n.127_146del)
c.7355_7374del (p.Ser2452PhefsTer27)
c.7367_7386del (p.Ser2456PhefsTer27)
c.7346_7365del (p.Ser2449PhefsTer27)
c.7001_7020del (p.Ser2334PhefsTer27)
c.3347_3366del (p.Ser1116PhefsTer27)
c.7241_7260del (p.Ser2414PhefsTer27)
c.7232_7251del (p.Ser2411PhefsTer27)
c.7247_7266del (p.Ser2416PhefsTer27)
c.1544_1563del (p.Ser515PhefsTer27)
Xg.31774114G>ACA412659035DMDc.2234C>T (p.Ser745Phe)
c.8C>T (p.Ser3Phe)
n.1049C>T
n.971C>T
n.880C>T
c.7388C>T (p.Ser2463Phe)
c.3356C>T (p.Ser1119Phe)
c.377C>T (p.Ser126Phe)
c.476C>T (p.Ser159Phe)
c.7376C>T (p.Ser2459Phe)
c.145C>T (n.145C>T)
c.7373C>T (p.Ser2458Phe)
c.7385C>T (p.Ser2462Phe)
c.7364C>T (p.Ser2455Phe)
c.7019C>T (p.Ser2340Phe)
c.3365C>T (p.Ser1122Phe)
c.7259C>T (p.Ser2420Phe)
c.7250C>T (p.Ser2417Phe)
c.7265C>T (p.Ser2422Phe)
c.1562C>T (p.Ser521Phe)
Xg.31774114G>CCA412659036DMDc.2234C>G (p.Ser745Cys)
c.8C>G (p.Ser3Cys)
n.1049C>G
n.971C>G
n.880C>G
c.7388C>G (p.Ser2463Cys)
c.3356C>G (p.Ser1119Cys)
c.377C>G (p.Ser126Cys)
c.476C>G (p.Ser159Cys)
c.7376C>G (p.Ser2459Cys)
c.145C>G (n.145C>G)
c.7373C>G (p.Ser2458Cys)
c.7385C>G (p.Ser2462Cys)
c.7364C>G (p.Ser2455Cys)
c.7019C>G (p.Ser2340Cys)
c.3365C>G (p.Ser1122Cys)
c.7259C>G (p.Ser2420Cys)
c.7250C>G (p.Ser2417Cys)
c.7265C>G (p.Ser2422Cys)
c.1562C>G (p.Ser521Cys)
Xg.31774114G>TCA412659037DMDc.2234C>A (p.Ser745Tyr)
c.8C>A (p.Ser3Tyr)
n.1049C>A
n.971C>A
n.880C>A
c.7388C>A (p.Ser2463Tyr)
c.3356C>A (p.Ser1119Tyr)
c.377C>A (p.Ser126Tyr)
c.476C>A (p.Ser159Tyr)
c.7376C>A (p.Ser2459Tyr)
c.145C>A (n.145C>A)
c.7373C>A (p.Ser2458Tyr)
c.7385C>A (p.Ser2462Tyr)
c.7364C>A (p.Ser2455Tyr)
c.7019C>A (p.Ser2340Tyr)
c.3365C>A (p.Ser1122Tyr)
c.7259C>A (p.Ser2420Tyr)
c.7250C>A (p.Ser2417Tyr)
c.7265C>A (p.Ser2422Tyr)
c.1562C>A (p.Ser521Tyr)
Xg.31774115A>CCA412659038DMDc.2233T>G (p.Ser745Ala)
c.7T>G (p.Ser3Ala)
n.1048T>G
n.970T>G
n.879T>G
c.7387T>G (p.Ser2463Ala)
c.3355T>G (p.Ser1119Ala)
c.376T>G (p.Ser126Ala)
c.475T>G (p.Ser159Ala)
c.7375T>G (p.Ser2459Ala)
c.144T>G (n.144T>G)
c.7372T>G (p.Ser2458Ala)
c.7384T>G (p.Ser2462Ala)
c.7363T>G (p.Ser2455Ala)
c.7018T>G (p.Ser2340Ala)
c.3364T>G (p.Ser1122Ala)
c.7258T>G (p.Ser2420Ala)
c.7249T>G (p.Ser2417Ala)
c.7264T>G (p.Ser2422Ala)
c.1561T>G (p.Ser521Ala)
Xg.31774115A>GCA412659039DMDc.2233T>C (p.Ser745Pro)
c.7T>C (p.Ser3Pro)
n.1048T>C
n.970T>C
n.879T>C
c.7387T>C (p.Ser2463Pro)
c.3355T>C (p.Ser1119Pro)
c.376T>C (p.Ser126Pro)
c.475T>C (p.Ser159Pro)
c.7375T>C (p.Ser2459Pro)
c.144T>C (n.144T>C)
c.7372T>C (p.Ser2458Pro)
c.7384T>C (p.Ser2462Pro)
c.7363T>C (p.Ser2455Pro)
c.7018T>C (p.Ser2340Pro)
c.3364T>C (p.Ser1122Pro)
c.7258T>C (p.Ser2420Pro)
c.7249T>C (p.Ser2417Pro)
c.7264T>C (p.Ser2422Pro)
c.1561T>C (p.Ser521Pro)
Xg.31774115A>TCA412659040DMDc.2233T>A (p.Ser745Thr)
c.7T>A (p.Ser3Thr)
n.1048T>A
n.970T>A
n.879T>A
c.7387T>A (p.Ser2463Thr)
c.3355T>A (p.Ser1119Thr)
c.376T>A (p.Ser126Thr)
c.475T>A (p.Ser159Thr)
c.7375T>A (p.Ser2459Thr)
c.144T>A (n.144T>A)
c.7372T>A (p.Ser2458Thr)
c.7384T>A (p.Ser2462Thr)
c.7363T>A (p.Ser2455Thr)
c.7018T>A (p.Ser2340Thr)
c.3364T>A (p.Ser1122Thr)
c.7258T>A (p.Ser2420Thr)
c.7249T>A (p.Ser2417Thr)
c.7264T>A (p.Ser2422Thr)
c.1561T>A (p.Ser521Thr)
Xg.31774116T>ACA515859385DMDc.2232A>T (p.Pro744=)
c.6A>T (p.Pro2=)
n.1047A>T
n.969A>T
n.878A>T
c.7386A>T (p.Pro2462=)
c.3354A>T (p.Pro1118=)
c.375A>T (p.Pro125=)
c.474A>T (p.Pro158=)
c.7374A>T (p.Pro2458=)
c.143A>T (n.143A>T)
c.7371A>T (p.Pro2457=)
c.7383A>T (p.Pro2461=)
c.7362A>T (p.Pro2454=)
c.7017A>T (p.Pro2339=)
c.3363A>T (p.Pro1121=)
c.7257A>T (p.Pro2419=)
c.7248A>T (p.Pro2416=)
c.7263A>T (p.Pro2421=)
c.1560A>T (p.Pro520=)
Xg.31774116T>CCA10378282DMDc.2232A>G (p.Pro744=)
c.6A>G (p.Pro2=)
n.1047A>G
n.969A>G
n.878A>G
c.7386A>G (p.Pro2462=)
c.3354A>G (p.Pro1118=)
c.375A>G (p.Pro125=)
c.474A>G (p.Pro158=)
c.7374A>G (p.Pro2458=)
c.143A>G (n.143A>G)
c.7371A>G (p.Pro2457=)
c.7383A>G (p.Pro2461=)
c.7362A>G (p.Pro2454=)
c.7017A>G (p.Pro2339=)
c.3363A>G (p.Pro1121=)
c.7257A>G (p.Pro2419=)
c.7248A>G (p.Pro2416=)
c.7263A>G (p.Pro2421=)
c.1560A>G (p.Pro520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774116T>GCA515859386DMDc.2232A>C (p.Pro744=)
c.6A>C (p.Pro2=)
n.1047A>C
n.969A>C
n.878A>C
c.7386A>C (p.Pro2462=)
c.3354A>C (p.Pro1118=)
c.375A>C (p.Pro125=)
c.474A>C (p.Pro158=)
c.7374A>C (p.Pro2458=)
c.143A>C (n.143A>C)
c.7371A>C (p.Pro2457=)
c.7383A>C (p.Pro2461=)
c.7362A>C (p.Pro2454=)
c.7017A>C (p.Pro2339=)
c.3363A>C (p.Pro1121=)
c.7257A>C (p.Pro2419=)
c.7248A>C (p.Pro2416=)
c.7263A>C (p.Pro2421=)
c.1560A>C (p.Pro520=)
Xg.31774116T=CA2422548657DMDc.2232A= (p.Pro744=)
c.6A= (p.Pro2=)
n.1047A=
n.969A=
n.878A=
c.7386A= (p.Pro2462=)
c.3354A= (p.Pro1118=)
c.375A= (p.Pro125=)
c.474A= (p.Pro158=)
c.7374A= (p.Pro2458=)
c.143A= (n.143A=)
c.7371A= (p.Pro2457=)
c.7383A= (p.Pro2461=)
c.7362A= (p.Pro2454=)
c.7017A= (p.Pro2339=)
c.3363A= (p.Pro1121=)
c.7257A= (p.Pro2419=)
c.7248A= (p.Pro2416=)
c.7263A= (p.Pro2421=)
c.1560A= (p.Pro520=)
Xg.31774117G>ACA412659041DMDc.2231C>T (p.Pro744Leu)
c.5C>T (p.Pro2Leu)
n.1046C>T
n.968C>T
n.877C>T
c.7385C>T (p.Pro2462Leu)
c.3353C>T (p.Pro1118Leu)
c.374C>T (p.Pro125Leu)
c.473C>T (p.Pro158Leu)
c.7373C>T (p.Pro2458Leu)
c.142C>T (n.142C>T)
c.7370C>T (p.Pro2457Leu)
c.7382C>T (p.Pro2461Leu)
c.7361C>T (p.Pro2454Leu)
c.7016C>T (p.Pro2339Leu)
c.3362C>T (p.Pro1121Leu)
c.7256C>T (p.Pro2419Leu)
c.7247C>T (p.Pro2416Leu)
c.7262C>T (p.Pro2421Leu)
c.1559C>T (p.Pro520Leu)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774117G>CCA412659042DMDc.2231C>G (p.Pro744Arg)
c.5C>G (p.Pro2Arg)
n.1046C>G
n.968C>G
n.877C>G
c.7385C>G (p.Pro2462Arg)
c.3353C>G (p.Pro1118Arg)
c.374C>G (p.Pro125Arg)
c.473C>G (p.Pro158Arg)
c.7373C>G (p.Pro2458Arg)
c.142C>G (n.142C>G)
c.7370C>G (p.Pro2457Arg)
c.7382C>G (p.Pro2461Arg)
c.7361C>G (p.Pro2454Arg)
c.7016C>G (p.Pro2339Arg)
c.3362C>G (p.Pro1121Arg)
c.7256C>G (p.Pro2419Arg)
c.7247C>G (p.Pro2416Arg)
c.7262C>G (p.Pro2421Arg)
c.1559C>G (p.Pro520Arg)
Xg.31774117G=CA2422548658DMDc.2231C= (p.Pro744=)
c.5C= (p.Pro2=)
n.1046C=
n.968C=
n.877C=
c.7385C= (p.Pro2462=)
c.3353C= (p.Pro1118=)
c.374C= (p.Pro125=)
c.473C= (p.Pro158=)
c.7373C= (p.Pro2458=)
c.142C= (n.142C=)
c.7370C= (p.Pro2457=)
c.7382C= (p.Pro2461=)
c.7361C= (p.Pro2454=)
c.7016C= (p.Pro2339=)
c.3362C= (p.Pro1121=)
c.7256C= (p.Pro2419=)
c.7247C= (p.Pro2416=)
c.7262C= (p.Pro2421=)
c.1559C= (p.Pro520=)
Xg.31774117G>TCA412659043DMDc.2231C>A (p.Pro744Gln)
c.5C>A (p.Pro2Gln)
n.1046C>A
n.968C>A
n.877C>A
c.7385C>A (p.Pro2462Gln)
c.3353C>A (p.Pro1118Gln)
c.374C>A (p.Pro125Gln)
c.473C>A (p.Pro158Gln)
c.7373C>A (p.Pro2458Gln)
c.142C>A (n.142C>A)
c.7370C>A (p.Pro2457Gln)
c.7382C>A (p.Pro2461Gln)
c.7361C>A (p.Pro2454Gln)
c.7016C>A (p.Pro2339Gln)
c.3362C>A (p.Pro1121Gln)
c.7256C>A (p.Pro2419Gln)
c.7247C>A (p.Pro2416Gln)
c.7262C>A (p.Pro2421Gln)
c.1559C>A (p.Pro520Gln)
 ClinVar
Xg.31774118G>ACA412659046DMDc.2230C>T (p.Pro744Ser)
c.4C>T (p.Pro2Ser)
n.1045C>T
n.967C>T
n.876C>T
c.7384C>T (p.Pro2462Ser)
c.3352C>T (p.Pro1118Ser)
c.373C>T (p.Pro125Ser)
c.472C>T (p.Pro158Ser)
c.7372C>T (p.Pro2458Ser)
c.141C>T (n.141C>T)
c.7369C>T (p.Pro2457Ser)
c.7381C>T (p.Pro2461Ser)
c.7360C>T (p.Pro2454Ser)
c.7015C>T (p.Pro2339Ser)
c.3361C>T (p.Pro1121Ser)
c.7255C>T (p.Pro2419Ser)
c.7246C>T (p.Pro2416Ser)
c.7261C>T (p.Pro2421Ser)
c.1558C>T (p.Pro520Ser)
Xg.31774118G>CCA412659044DMDc.2230C>G (p.Pro744Ala)
c.4C>G (p.Pro2Ala)
n.1045C>G
n.967C>G
n.876C>G
c.7384C>G (p.Pro2462Ala)
c.3352C>G (p.Pro1118Ala)
c.373C>G (p.Pro125Ala)
c.472C>G (p.Pro158Ala)
c.7372C>G (p.Pro2458Ala)
c.141C>G (n.141C>G)
c.7369C>G (p.Pro2457Ala)
c.7381C>G (p.Pro2461Ala)
c.7360C>G (p.Pro2454Ala)
c.7015C>G (p.Pro2339Ala)
c.3361C>G (p.Pro1121Ala)
c.7255C>G (p.Pro2419Ala)
c.7246C>G (p.Pro2416Ala)
c.7261C>G (p.Pro2421Ala)
c.1558C>G (p.Pro520Ala)
Xg.31774118G>TCA412659045DMDc.2230C>A (p.Pro744Thr)
c.4C>A (p.Pro2Thr)
n.1045C>A
n.967C>A
n.876C>A
c.7384C>A (p.Pro2462Thr)
c.3352C>A (p.Pro1118Thr)
c.373C>A (p.Pro125Thr)
c.472C>A (p.Pro158Thr)
c.7372C>A (p.Pro2458Thr)
c.141C>A (n.141C>A)
c.7369C>A (p.Pro2457Thr)
c.7381C>A (p.Pro2461Thr)
c.7360C>A (p.Pro2454Thr)
c.7015C>A (p.Pro2339Thr)
c.3361C>A (p.Pro1121Thr)
c.7255C>A (p.Pro2419Thr)
c.7246C>A (p.Pro2416Thr)
c.7261C>A (p.Pro2421Thr)
c.1558C>A (p.Pro520Thr)
Xg.31774119C>ACA412659047DMDc.2229G>T (p.Met743Ile)
c.3G>T (p.Met1Ile)
n.1044G>T
n.966G>T
n.875G>T
c.7383G>T (p.Met2461Ile)
c.3351G>T (p.Met1117Ile)
c.372G>T (p.Met124Ile)
c.471G>T (p.Met157Ile)
c.7371G>T (p.Met2457Ile)
c.140G>T (n.140G>T)
c.7368G>T (p.Met2456Ile)
c.7380G>T (p.Met2460Ile)
c.7359G>T (p.Met2453Ile)
c.7014G>T (p.Met2338Ile)
c.3360G>T (p.Met1120Ile)
c.7254G>T (p.Met2418Ile)
c.7245G>T (p.Met2415Ile)
c.7260G>T (p.Met2420Ile)
c.1557G>T (p.Met519Ile)
Xg.31774119C>GCA412659048DMDc.2229G>C (p.Met743Ile)
c.3G>C (p.Met1Ile)
n.1044G>C
n.966G>C
n.875G>C
c.7383G>C (p.Met2461Ile)
c.3351G>C (p.Met1117Ile)
c.372G>C (p.Met124Ile)
c.471G>C (p.Met157Ile)
c.7371G>C (p.Met2457Ile)
c.140G>C (n.140G>C)
c.7368G>C (p.Met2456Ile)
c.7380G>C (p.Met2460Ile)
c.7359G>C (p.Met2453Ile)
c.7014G>C (p.Met2338Ile)
c.3360G>C (p.Met1120Ile)
c.7254G>C (p.Met2418Ile)
c.7245G>C (p.Met2415Ile)
c.7260G>C (p.Met2420Ile)
c.1557G>C (p.Met519Ile)
Xg.31774119C>TCA412659049DMDc.2229G>A (p.Met743Ile)
c.3G>A (p.Met1Ile)
n.1044G>A
n.966G>A
n.875G>A
c.7383G>A (p.Met2461Ile)
c.3351G>A (p.Met1117Ile)
c.372G>A (p.Met124Ile)
c.471G>A (p.Met157Ile)
c.7371G>A (p.Met2457Ile)
c.140G>A (n.140G>A)
c.7368G>A (p.Met2456Ile)
c.7380G>A (p.Met2460Ile)
c.7359G>A (p.Met2453Ile)
c.7014G>A (p.Met2338Ile)
c.3360G>A (p.Met1120Ile)
c.7254G>A (p.Met2418Ile)
c.7245G>A (p.Met2415Ile)
c.7260G>A (p.Met2420Ile)
c.1557G>A (p.Met519Ile)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774120A>CCA412659050DMDc.2228T>G (p.Met743Arg)
c.2T>G (p.Met1Arg)
n.1043T>G
n.965T>G
n.874T>G
c.7382T>G (p.Met2461Arg)
c.3350T>G (p.Met1117Arg)
c.371T>G (p.Met124Arg)
c.470T>G (p.Met157Arg)
c.7370T>G (p.Met2457Arg)
c.139T>G (n.139T>G)
c.7367T>G (p.Met2456Arg)
c.7379T>G (p.Met2460Arg)
c.7358T>G (p.Met2453Arg)
c.7013T>G (p.Met2338Arg)
c.3359T>G (p.Met1120Arg)
c.7253T>G (p.Met2418Arg)
c.7244T>G (p.Met2415Arg)
c.7259T>G (p.Met2420Arg)
c.1556T>G (p.Met519Arg)
Xg.31774120A>GCA412659051DMDc.2228T>C (p.Met743Thr)
c.2T>C (p.Met1Thr)
n.1043T>C
n.965T>C
n.874T>C
c.7382T>C (p.Met2461Thr)
c.3350T>C (p.Met1117Thr)
c.371T>C (p.Met124Thr)
c.470T>C (p.Met157Thr)
c.7370T>C (p.Met2457Thr)
c.139T>C (n.139T>C)
c.7367T>C (p.Met2456Thr)
c.7379T>C (p.Met2460Thr)
c.7358T>C (p.Met2453Thr)
c.7013T>C (p.Met2338Thr)
c.3359T>C (p.Met1120Thr)
c.7253T>C (p.Met2418Thr)
c.7244T>C (p.Met2415Thr)
c.7259T>C (p.Met2420Thr)
c.1556T>C (p.Met519Thr)
 gnomAD v4
Xg.31774120A>TCA412659052DMDc.2228T>A (p.Met743Lys)
c.2T>A (p.Met1Lys)
n.1043T>A
n.965T>A
n.874T>A
c.7382T>A (p.Met2461Lys)
c.3350T>A (p.Met1117Lys)
c.371T>A (p.Met124Lys)
c.470T>A (p.Met157Lys)
c.7370T>A (p.Met2457Lys)
c.139T>A (n.139T>A)
c.7367T>A (p.Met2456Lys)
c.7379T>A (p.Met2460Lys)
c.7358T>A (p.Met2453Lys)
c.7013T>A (p.Met2338Lys)
c.3359T>A (p.Met1120Lys)
c.7253T>A (p.Met2418Lys)
c.7244T>A (p.Met2415Lys)
c.7259T>A (p.Met2420Lys)
c.1556T>A (p.Met519Lys)
Xg.31774121T>ACA412659053DMDc.2227A>T (p.Met743Leu)
c.1A>T (p.Met1Leu)
n.1042A>T
n.964A>T
n.873A>T
c.7381A>T (p.Met2461Leu)
c.3349A>T (p.Met1117Leu)
c.370A>T (p.Met124Leu)
c.469A>T (p.Met157Leu)
c.7369A>T (p.Met2457Leu)
c.138A>T (n.138A>T)
c.7366A>T (p.Met2456Leu)
c.7378A>T (p.Met2460Leu)
c.7357A>T (p.Met2453Leu)
c.7012A>T (p.Met2338Leu)
c.3358A>T (p.Met1120Leu)
c.7252A>T (p.Met2418Leu)
c.7243A>T (p.Met2415Leu)
c.7258A>T (p.Met2420Leu)
c.1555A>T (p.Met519Leu)
Xg.31774121T>CCA412659054DMDc.2227A>G (p.Met743Val)
c.1A>G (p.Met1Val)
n.1042A>G
n.964A>G
n.873A>G
c.7381A>G (p.Met2461Val)
c.3349A>G (p.Met1117Val)
c.370A>G (p.Met124Val)
c.469A>G (p.Met157Val)
c.7369A>G (p.Met2457Val)
c.138A>G (n.138A>G)
c.7366A>G (p.Met2456Val)
c.7378A>G (p.Met2460Val)
c.7357A>G (p.Met2453Val)
c.7012A>G (p.Met2338Val)
c.3358A>G (p.Met1120Val)
c.7252A>G (p.Met2418Val)
c.7243A>G (p.Met2415Val)
c.7258A>G (p.Met2420Val)
c.1555A>G (p.Met519Val)
Xg.31774121T>GCA412659055DMDc.2227A>C (p.Met743Leu)
c.1A>C (p.Met1Leu)
n.1042A>C
n.964A>C
n.873A>C
c.7381A>C (p.Met2461Leu)
c.3349A>C (p.Met1117Leu)
c.370A>C (p.Met124Leu)
c.469A>C (p.Met157Leu)
c.7369A>C (p.Met2457Leu)
c.138A>C (n.138A>C)
c.7366A>C (p.Met2456Leu)
c.7378A>C (p.Met2460Leu)
c.7357A>C (p.Met2453Leu)
c.7012A>C (p.Met2338Leu)
c.3358A>C (p.Met1120Leu)
c.7252A>C (p.Met2418Leu)
c.7243A>C (p.Met2415Leu)
c.7258A>C (p.Met2420Leu)
c.1555A>C (p.Met519Leu)
Xg.31774123delCA2573158639DMDc.2227del (p.Met743CysfsTer5)
c.1del (p.Met1CysfsTer5)
n.1042del
n.964del
n.873del
c.7381del (p.Met2461CysfsTer5)
c.3349del (p.Met1117CysfsTer5)
c.370del (p.Met124CysfsTer5)
c.469del (p.Met157CysfsTer5)
c.7369del (p.Met2457CysfsTer5)
c.138del (n.138del)
c.7366del (p.Met2456CysfsTer5)
c.7378del (p.Met2460CysfsTer5)
c.7357del (p.Met2453CysfsTer5)
c.7012del (p.Met2338CysfsTer5)
c.3358del (p.Met1120CysfsTer5)
c.7252del (p.Met2418CysfsTer5)
c.7243del (p.Met2415CysfsTer5)
c.7258del (p.Met2420CysfsTer5)
c.1555del (p.Met519CysfsTer5)
 ClinVar dbSNP
Xg.31774122T>ACA412659056DMDc.2226A>T (p.Glu742Asp)
c.-1A>T (n.-1A>T)
n.1041A>T
n.963A>T
n.872A>T
c.7380A>T (p.Glu2460Asp)
c.3348A>T (p.Glu1116Asp)
c.369A>T (p.Glu123Asp)
c.468A>T (p.Glu156Asp)
c.7368A>T (p.Glu2456Asp)
c.137A>T (n.137A>T)
c.7365A>T (p.Glu2455Asp)
c.7377A>T (p.Glu2459Asp)
c.7356A>T (p.Glu2452Asp)
c.7011A>T (p.Glu2337Asp)
c.3357A>T (p.Glu1119Asp)
c.7251A>T (p.Glu2417Asp)
c.7242A>T (p.Glu2414Asp)
c.7257A>T (p.Glu2419Asp)
c.1554A>T (p.Glu518Asp)
Xg.31774122T>CCA515859387DMDc.2226A>G (p.Glu742=)
c.-1A>G (n.-1A>G)
n.1041A>G
n.963A>G
n.872A>G
c.7380A>G (p.Glu2460=)
c.3348A>G (p.Glu1116=)
c.369A>G (p.Glu123=)
c.468A>G (p.Glu156=)
c.7368A>G (p.Glu2456=)
c.137A>G (n.137A>G)
c.7365A>G (p.Glu2455=)
c.7377A>G (p.Glu2459=)
c.7356A>G (p.Glu2452=)
c.7011A>G (p.Glu2337=)
c.3357A>G (p.Glu1119=)
c.7251A>G (p.Glu2417=)
c.7242A>G (p.Glu2414=)
c.7257A>G (p.Glu2419=)
c.1554A>G (p.Glu518=)
Xg.31774122T>GCA412659057DMDc.2226A>C (p.Glu742Asp)
c.-1A>C (n.-1A>C)
n.1041A>C
n.963A>C
n.872A>C
c.7380A>C (p.Glu2460Asp)
c.3348A>C (p.Glu1116Asp)
c.369A>C (p.Glu123Asp)
c.468A>C (p.Glu156Asp)
c.7368A>C (p.Glu2456Asp)
c.137A>C (n.137A>C)
c.7365A>C (p.Glu2455Asp)
c.7377A>C (p.Glu2459Asp)
c.7356A>C (p.Glu2452Asp)
c.7011A>C (p.Glu2337Asp)
c.3357A>C (p.Glu1119Asp)
c.7251A>C (p.Glu2417Asp)
c.7242A>C (p.Glu2414Asp)
c.7257A>C (p.Glu2419Asp)
c.1554A>C (p.Glu518Asp)
Xg.31774123T>ACA412659058DMDc.2225A>T (p.Glu742Val)
c.-2A>T (n.-2A>T)
n.1040A>T
n.962A>T
n.871A>T
c.7379A>T (p.Glu2460Val)
c.3347A>T (p.Glu1116Val)
c.368A>T (p.Glu123Val)
c.467A>T (p.Glu156Val)
c.7367A>T (p.Glu2456Val)
c.136A>T (n.136A>T)
c.7364A>T (p.Glu2455Val)
c.7376A>T (p.Glu2459Val)
c.7355A>T (p.Glu2452Val)
c.7010A>T (p.Glu2337Val)
c.3356A>T (p.Glu1119Val)
c.7250A>T (p.Glu2417Val)
c.7241A>T (p.Glu2414Val)
c.7256A>T (p.Glu2419Val)
c.1553A>T (p.Glu518Val)
Xg.31774123T>CCA412659060DMDc.2225A>G (p.Glu742Gly)
c.-2A>G (n.-2A>G)
n.1040A>G
n.962A>G
n.871A>G
c.7379A>G (p.Glu2460Gly)
c.3347A>G (p.Glu1116Gly)
c.368A>G (p.Glu123Gly)
c.467A>G (p.Glu156Gly)
c.7367A>G (p.Glu2456Gly)
c.136A>G (n.136A>G)
c.7364A>G (p.Glu2455Gly)
c.7376A>G (p.Glu2459Gly)
c.7355A>G (p.Glu2452Gly)
c.7010A>G (p.Glu2337Gly)
c.3356A>G (p.Glu1119Gly)
c.7250A>G (p.Glu2417Gly)
c.7241A>G (p.Glu2414Gly)
c.7256A>G (p.Glu2419Gly)
c.1553A>G (p.Glu518Gly)
Xg.31774123T>GCA412659059DMDc.2225A>C (p.Glu742Ala)
c.-2A>C (n.-2A>C)
n.1040A>C
n.962A>C
n.871A>C
c.7379A>C (p.Glu2460Ala)
c.3347A>C (p.Glu1116Ala)
c.368A>C (p.Glu123Ala)
c.467A>C (p.Glu156Ala)
c.7367A>C (p.Glu2456Ala)
c.136A>C (n.136A>C)
c.7364A>C (p.Glu2455Ala)
c.7376A>C (p.Glu2459Ala)
c.7355A>C (p.Glu2452Ala)
c.7010A>C (p.Glu2337Ala)
c.3356A>C (p.Glu1119Ala)
c.7250A>C (p.Glu2417Ala)
c.7241A>C (p.Glu2414Ala)
c.7256A>C (p.Glu2419Ala)
c.1553A>C (p.Glu518Ala)
Xg.31774124C>ACA412659061DMDc.2224G>T (p.Glu742Ter)
c.-3G>T (n.-3G>T)
n.1039G>T
n.961G>T
n.870G>T
c.7378G>T (p.Glu2460Ter)
c.3346G>T (p.Glu1116Ter)
c.367G>T (p.Glu123Ter)
c.466G>T (p.Glu156Ter)
c.7366G>T (p.Glu2456Ter)
c.135G>T (n.135G>T)
c.7363G>T (p.Glu2455Ter)
c.7375G>T (p.Glu2459Ter)
c.7354G>T (p.Glu2452Ter)
c.7009G>T (p.Glu2337Ter)
c.3355G>T (p.Glu1119Ter)
c.7249G>T (p.Glu2417Ter)
c.7240G>T (p.Glu2414Ter)
c.7255G>T (p.Glu2419Ter)
c.1552G>T (p.Glu518Ter)
 ClinVar dbSNP
Xg.31774124C=CA2422548659DMDc.2224G= (p.Glu742=)
c.-3G= (n.-3G=)
n.1039G=
n.961G=
n.870G=
c.7378G= (p.Glu2460=)
c.3346G= (p.Glu1116=)
c.367G= (p.Glu123=)
c.466G= (p.Glu156=)
c.7366G= (p.Glu2456=)
c.135G= (n.135G=)
c.7363G= (p.Glu2455=)
c.7375G= (p.Glu2459=)
c.7354G= (p.Glu2452=)
c.7009G= (p.Glu2337=)
c.3355G= (p.Glu1119=)
c.7249G= (p.Glu2417=)
c.7240G= (p.Glu2414=)
c.7255G= (p.Glu2419=)
c.1552G= (p.Glu518=)
Xg.31774124C>GCA412659062DMDc.2224G>C (p.Glu742Gln)
c.-3G>C (n.-3G>C)
n.1039G>C
n.961G>C
n.870G>C
c.7378G>C (p.Glu2460Gln)
c.3346G>C (p.Glu1116Gln)
c.367G>C (p.Glu123Gln)
c.466G>C (p.Glu156Gln)
c.7366G>C (p.Glu2456Gln)
c.135G>C (n.135G>C)
c.7363G>C (p.Glu2455Gln)
c.7375G>C (p.Glu2459Gln)
c.7354G>C (p.Glu2452Gln)
c.7009G>C (p.Glu2337Gln)
c.3355G>C (p.Glu1119Gln)
c.7249G>C (p.Glu2417Gln)
c.7240G>C (p.Glu2414Gln)
c.7255G>C (p.Glu2419Gln)
c.1552G>C (p.Glu518Gln)
Xg.31774124C>TCA412659063DMDc.2224G>A (p.Glu742Lys)
c.-3G>A (n.-3G>A)
n.1039G>A
n.961G>A
n.870G>A
c.7378G>A (p.Glu2460Lys)
c.3346G>A (p.Glu1116Lys)
c.367G>A (p.Glu123Lys)
c.466G>A (p.Glu156Lys)
c.7366G>A (p.Glu2456Lys)
c.135G>A (n.135G>A)
c.7363G>A (p.Glu2455Lys)
c.7375G>A (p.Glu2459Lys)
c.7354G>A (p.Glu2452Lys)
c.7009G>A (p.Glu2337Lys)
c.3355G>A (p.Glu1119Lys)
c.7249G>A (p.Glu2417Lys)
c.7240G>A (p.Glu2414Lys)
c.7255G>A (p.Glu2419Lys)
c.1552G>A (p.Glu518Lys)
Xg.31774125T>ACA515859388DMDc.2223A>T (p.Leu741=)
c.-4A>T (n.-4A>T)
n.1038A>T
n.960A>T
n.869A>T
c.7377A>T (p.Leu2459=)
c.3345A>T (p.Leu1115=)
c.366A>T (p.Leu122=)
c.465A>T (p.Leu155=)
c.7365A>T (p.Leu2455=)
c.134A>T (n.134A>T)
c.7362A>T (p.Leu2454=)
c.7374A>T (p.Leu2458=)
c.7353A>T (p.Leu2451=)
c.7008A>T (p.Leu2336=)
c.3354A>T (p.Leu1118=)
c.7248A>T (p.Leu2416=)
c.7239A>T (p.Leu2413=)
c.7254A>T (p.Leu2418=)
c.1551A>T (p.Leu517=)
Xg.31774125T>CCA515859389DMDc.2223A>G (p.Leu741=)
c.-4A>G (n.-4A>G)
n.1038A>G
n.960A>G
n.869A>G
c.7377A>G (p.Leu2459=)
c.3345A>G (p.Leu1115=)
c.366A>G (p.Leu122=)
c.465A>G (p.Leu155=)
c.7365A>G (p.Leu2455=)
c.134A>G (n.134A>G)
c.7362A>G (p.Leu2454=)
c.7374A>G (p.Leu2458=)
c.7353A>G (p.Leu2451=)
c.7008A>G (p.Leu2336=)
c.3354A>G (p.Leu1118=)
c.7248A>G (p.Leu2416=)
c.7239A>G (p.Leu2413=)
c.7254A>G (p.Leu2418=)
c.1551A>G (p.Leu517=)
Xg.31774125T>GCA515859390DMDc.2223A>C (p.Leu741=)
c.-4A>C (n.-4A>C)
n.1038A>C
n.960A>C
n.869A>C
c.7377A>C (p.Leu2459=)
c.3345A>C (p.Leu1115=)
c.366A>C (p.Leu122=)
c.465A>C (p.Leu155=)
c.7365A>C (p.Leu2455=)
c.134A>C (n.134A>C)
c.7362A>C (p.Leu2454=)
c.7374A>C (p.Leu2458=)
c.7353A>C (p.Leu2451=)
c.7008A>C (p.Leu2336=)
c.3354A>C (p.Leu1118=)
c.7248A>C (p.Leu2416=)
c.7239A>C (p.Leu2413=)
c.7254A>C (p.Leu2418=)
c.1551A>C (p.Leu517=)
Xg.31774126A=CA2422548660DMDc.2222T= (p.Leu741=)
c.-5T= (n.-5T=)
n.1037T=
n.959T=
n.868T=
c.7376T= (p.Leu2459=)
c.3344T= (p.Leu1115=)
c.365T= (p.Leu122=)
c.464T= (p.Leu155=)
c.7364T= (p.Leu2455=)
c.133T= (n.133T=)
c.7361T= (p.Leu2454=)
c.7373T= (p.Leu2458=)
c.7352T= (p.Leu2451=)
c.7007T= (p.Leu2336=)
c.3353T= (p.Leu1118=)
c.7247T= (p.Leu2416=)
c.7238T= (p.Leu2413=)
c.7253T= (p.Leu2418=)
c.1550T= (p.Leu517=)
Xg.31774126A>CCA412659064DMDc.2222T>G (p.Leu741Arg)
c.-5T>G (n.-5T>G)
n.1037T>G
n.959T>G
n.868T>G
c.7376T>G (p.Leu2459Arg)
c.3344T>G (p.Leu1115Arg)
c.365T>G (p.Leu122Arg)
c.464T>G (p.Leu155Arg)
c.7364T>G (p.Leu2455Arg)
c.133T>G (n.133T>G)
c.7361T>G (p.Leu2454Arg)
c.7373T>G (p.Leu2458Arg)
c.7352T>G (p.Leu2451Arg)
c.7007T>G (p.Leu2336Arg)
c.3353T>G (p.Leu1118Arg)
c.7247T>G (p.Leu2416Arg)
c.7238T>G (p.Leu2413Arg)
c.7253T>G (p.Leu2418Arg)
c.1550T>G (p.Leu517Arg)
Xg.31774126A>GCA412659065DMDc.2222T>C (p.Leu741Pro)
c.-5T>C (n.-5T>C)
n.1037T>C
n.959T>C
n.868T>C
c.7376T>C (p.Leu2459Pro)
c.3344T>C (p.Leu1115Pro)
c.365T>C (p.Leu122Pro)
c.464T>C (p.Leu155Pro)
c.7364T>C (p.Leu2455Pro)
c.133T>C (n.133T>C)
c.7361T>C (p.Leu2454Pro)
c.7373T>C (p.Leu2458Pro)
c.7352T>C (p.Leu2451Pro)
c.7007T>C (p.Leu2336Pro)
c.3353T>C (p.Leu1118Pro)
c.7247T>C (p.Leu2416Pro)
c.7238T>C (p.Leu2413Pro)
c.7253T>C (p.Leu2418Pro)
c.1550T>C (p.Leu517Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774126A>TCA412659066DMDc.2222T>A (p.Leu741Gln)
c.-5T>A (n.-5T>A)
n.1037T>A
n.959T>A
n.868T>A
c.7376T>A (p.Leu2459Gln)
c.3344T>A (p.Leu1115Gln)
c.365T>A (p.Leu122Gln)
c.464T>A (p.Leu155Gln)
c.7364T>A (p.Leu2455Gln)
c.133T>A (n.133T>A)
c.7361T>A (p.Leu2454Gln)
c.7373T>A (p.Leu2458Gln)
c.7352T>A (p.Leu2451Gln)
c.7007T>A (p.Leu2336Gln)
c.3353T>A (p.Leu1118Gln)
c.7247T>A (p.Leu2416Gln)
c.7238T>A (p.Leu2413Gln)
c.7253T>A (p.Leu2418Gln)
c.1550T>A (p.Leu517Gln)
Xg.31774127G>ACA515859391DMDc.2221C>T (p.Leu741=)
c.-6C>T (n.-6C>T)
n.1036C>T
n.958C>T
n.867C>T
c.7375C>T (p.Leu2459=)
c.3343C>T (p.Leu1115=)
c.364C>T (p.Leu122=)
c.463C>T (p.Leu155=)
c.7363C>T (p.Leu2455=)
c.132C>T (n.132C>T)
c.7360C>T (p.Leu2454=)
c.7372C>T (p.Leu2458=)
c.7351C>T (p.Leu2451=)
c.7006C>T (p.Leu2336=)
c.3352C>T (p.Leu1118=)
c.7246C>T (p.Leu2416=)
c.7237C>T (p.Leu2413=)
c.7252C>T (p.Leu2418=)
c.1549C>T (p.Leu517=)
Xg.31774127G>CCA328470494DMDc.2221C>G (p.Leu741Val)
c.-6C>G (n.-6C>G)
n.1036C>G
n.958C>G
n.867C>G
c.7375C>G (p.Leu2459Val)
c.3343C>G (p.Leu1115Val)
c.364C>G (p.Leu122Val)
c.463C>G (p.Leu155Val)
c.7363C>G (p.Leu2455Val)
c.132C>G (n.132C>G)
c.7360C>G (p.Leu2454Val)
c.7372C>G (p.Leu2458Val)
c.7351C>G (p.Leu2451Val)
c.7006C>G (p.Leu2336Val)
c.3352C>G (p.Leu1118Val)
c.7246C>G (p.Leu2416Val)
c.7237C>G (p.Leu2413Val)
c.7252C>G (p.Leu2418Val)
c.1549C>G (p.Leu517Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774127G=CA2422548661DMDc.2221C= (p.Leu741=)
c.-6C= (n.-6C=)
n.1036C=
n.958C=
n.867C=
c.7375C= (p.Leu2459=)
c.3343C= (p.Leu1115=)
c.364C= (p.Leu122=)
c.463C= (p.Leu155=)
c.7363C= (p.Leu2455=)
c.132C= (n.132C=)
c.7360C= (p.Leu2454=)
c.7372C= (p.Leu2458=)
c.7351C= (p.Leu2451=)
c.7006C= (p.Leu2336=)
c.3352C= (p.Leu1118=)
c.7246C= (p.Leu2416=)
c.7237C= (p.Leu2413=)
c.7252C= (p.Leu2418=)
c.1549C= (p.Leu517=)
Xg.31774127G>TCA412659067DMDc.2221C>A (p.Leu741Ile)
c.-6C>A (n.-6C>A)
n.1036C>A
n.958C>A
n.867C>A
c.7375C>A (p.Leu2459Ile)
c.3343C>A (p.Leu1115Ile)
c.364C>A (p.Leu122Ile)
c.463C>A (p.Leu155Ile)
c.7363C>A (p.Leu2455Ile)
c.132C>A (n.132C>A)
c.7360C>A (p.Leu2454Ile)
c.7372C>A (p.Leu2458Ile)
c.7351C>A (p.Leu2451Ile)
c.7006C>A (p.Leu2336Ile)
c.3352C>A (p.Leu1118Ile)
c.7246C>A (p.Leu2416Ile)
c.7237C>A (p.Leu2413Ile)
c.7252C>A (p.Leu2418Ile)
c.1549C>A (p.Leu517Ile)
Xg.31774128T>ACA412659068DMDc.2220A>T (p.Lys740Asn)
c.-7A>T (n.-7A>T)
n.1035A>T
n.957A>T
n.866A>T
c.7374A>T (p.Lys2458Asn)
c.3342A>T (p.Lys1114Asn)
c.363A>T (p.Lys121Asn)
c.462A>T (p.Lys154Asn)
c.7362A>T (p.Lys2454Asn)
c.131A>T (n.131A>T)
c.7359A>T (p.Lys2453Asn)
c.7371A>T (p.Lys2457Asn)
c.7350A>T (p.Lys2450Asn)
c.7005A>T (p.Lys2335Asn)
c.3351A>T (p.Lys1117Asn)
c.7245A>T (p.Lys2415Asn)
c.7236A>T (p.Lys2412Asn)
c.7251A>T (p.Lys2417Asn)
c.1548A>T (p.Lys516Asn)
Xg.31774128T>CCA515859392DMDc.2220A>G (p.Lys740=)
c.-7A>G (n.-7A>G)
n.1035A>G
n.957A>G
n.866A>G
c.7374A>G (p.Lys2458=)
c.3342A>G (p.Lys1114=)
c.363A>G (p.Lys121=)
c.462A>G (p.Lys154=)
c.7362A>G (p.Lys2454=)
c.131A>G (n.131A>G)
c.7359A>G (p.Lys2453=)
c.7371A>G (p.Lys2457=)
c.7350A>G (p.Lys2450=)
c.7005A>G (p.Lys2335=)
c.3351A>G (p.Lys1117=)
c.7245A>G (p.Lys2415=)
c.7236A>G (p.Lys2412=)
c.7251A>G (p.Lys2417=)
c.1548A>G (p.Lys516=)
Xg.31774128T>GCA412659069DMDc.2220A>C (p.Lys740Asn)
c.-7A>C (n.-7A>C)
n.1035A>C
n.957A>C
n.866A>C
c.7374A>C (p.Lys2458Asn)
c.3342A>C (p.Lys1114Asn)
c.363A>C (p.Lys121Asn)
c.462A>C (p.Lys154Asn)
c.7362A>C (p.Lys2454Asn)
c.131A>C (n.131A>C)
c.7359A>C (p.Lys2453Asn)
c.7371A>C (p.Lys2457Asn)
c.7350A>C (p.Lys2450Asn)
c.7005A>C (p.Lys2335Asn)
c.3351A>C (p.Lys1117Asn)
c.7245A>C (p.Lys2415Asn)
c.7236A>C (p.Lys2412Asn)
c.7251A>C (p.Lys2417Asn)
c.1548A>C (p.Lys516Asn)
Xg.31774129T>ACA412659070DMDc.2219A>T (p.Lys740Ile)
c.-8A>T (n.-8A>T)
n.1034A>T
n.956A>T
n.865A>T
c.7373A>T (p.Lys2458Ile)
c.3341A>T (p.Lys1114Ile)
c.362A>T (p.Lys121Ile)
c.461A>T (p.Lys154Ile)
c.7361A>T (p.Lys2454Ile)
c.130A>T (n.130A>T)
c.7358A>T (p.Lys2453Ile)
c.7370A>T (p.Lys2457Ile)
c.7349A>T (p.Lys2450Ile)
c.7004A>T (p.Lys2335Ile)
c.3350A>T (p.Lys1117Ile)
c.7244A>T (p.Lys2415Ile)
c.7235A>T (p.Lys2412Ile)
c.7250A>T (p.Lys2417Ile)
c.1547A>T (p.Lys516Ile)
Xg.31774129T>CCA412659071DMDc.2219A>G (p.Lys740Arg)
c.-8A>G (n.-8A>G)
n.1034A>G
n.956A>G
n.865A>G
c.7373A>G (p.Lys2458Arg)
c.3341A>G (p.Lys1114Arg)
c.362A>G (p.Lys121Arg)
c.461A>G (p.Lys154Arg)
c.7361A>G (p.Lys2454Arg)
c.130A>G (n.130A>G)
c.7358A>G (p.Lys2453Arg)
c.7370A>G (p.Lys2457Arg)
c.7349A>G (p.Lys2450Arg)
c.7004A>G (p.Lys2335Arg)
c.3350A>G (p.Lys1117Arg)
c.7244A>G (p.Lys2415Arg)
c.7235A>G (p.Lys2412Arg)
c.7250A>G (p.Lys2417Arg)
c.1547A>G (p.Lys516Arg)
Xg.31774129T>GCA412659072DMDc.2219A>C (p.Lys740Thr)
c.-8A>C (n.-8A>C)
n.1034A>C
n.956A>C
n.865A>C
c.7373A>C (p.Lys2458Thr)
c.3341A>C (p.Lys1114Thr)
c.362A>C (p.Lys121Thr)
c.461A>C (p.Lys154Thr)
c.7361A>C (p.Lys2454Thr)
c.130A>C (n.130A>C)
c.7358A>C (p.Lys2453Thr)
c.7370A>C (p.Lys2457Thr)
c.7349A>C (p.Lys2450Thr)
c.7004A>C (p.Lys2335Thr)
c.3350A>C (p.Lys1117Thr)
c.7244A>C (p.Lys2415Thr)
c.7235A>C (p.Lys2412Thr)
c.7250A>C (p.Lys2417Thr)
c.1547A>C (p.Lys516Thr)
Xg.31774130T>ACA412659075DMDc.2218A>T (p.Lys740Ter)
c.-9A>T (n.-9A>T)
n.1033A>T
n.955A>T
n.864A>T
c.7372A>T (p.Lys2458Ter)
c.3340A>T (p.Lys1114Ter)
c.361A>T (p.Lys121Ter)
c.460A>T (p.Lys154Ter)
c.7360A>T (p.Lys2454Ter)
c.129A>T (n.129A>T)
c.7357A>T (p.Lys2453Ter)
c.7369A>T (p.Lys2457Ter)
c.7348A>T (p.Lys2450Ter)
c.7003A>T (p.Lys2335Ter)
c.3349A>T (p.Lys1117Ter)
c.7243A>T (p.Lys2415Ter)
c.7234A>T (p.Lys2412Ter)
c.7249A>T (p.Lys2417Ter)
c.1546A>T (p.Lys516Ter)
Xg.31774130T>CCA412659074DMDc.2218A>G (p.Lys740Glu)
c.-9A>G (n.-9A>G)
n.1033A>G
n.955A>G
n.864A>G
c.7372A>G (p.Lys2458Glu)
c.3340A>G (p.Lys1114Glu)
c.361A>G (p.Lys121Glu)
c.460A>G (p.Lys154Glu)
c.7360A>G (p.Lys2454Glu)
c.129A>G (n.129A>G)
c.7357A>G (p.Lys2453Glu)
c.7369A>G (p.Lys2457Glu)
c.7348A>G (p.Lys2450Glu)
c.7003A>G (p.Lys2335Glu)
c.3349A>G (p.Lys1117Glu)
c.7243A>G (p.Lys2415Glu)
c.7234A>G (p.Lys2412Glu)
c.7249A>G (p.Lys2417Glu)
c.1546A>G (p.Lys516Glu)
Xg.31774130T>GCA412659073DMDc.2218A>C (p.Lys740Gln)
c.-9A>C (n.-9A>C)
n.1033A>C
n.955A>C
n.864A>C
c.7372A>C (p.Lys2458Gln)
c.3340A>C (p.Lys1114Gln)
c.361A>C (p.Lys121Gln)
c.460A>C (p.Lys154Gln)
c.7360A>C (p.Lys2454Gln)
c.129A>C (n.129A>C)
c.7357A>C (p.Lys2453Gln)
c.7369A>C (p.Lys2457Gln)
c.7348A>C (p.Lys2450Gln)
c.7003A>C (p.Lys2335Gln)
c.3349A>C (p.Lys1117Gln)
c.7243A>C (p.Lys2415Gln)
c.7234A>C (p.Lys2412Gln)
c.7249A>C (p.Lys2417Gln)
c.1546A>C (p.Lys516Gln)
Xg.31774131G>ACA515859393DMDc.2217C>T (p.Ser739=)
c.-10C>T (n.-10C>T)
n.1032C>T
n.954C>T
n.863C>T
c.7371C>T (p.Ser2457=)
c.3339C>T (p.Ser1113=)
c.360C>T (p.Ser120=)
c.459C>T (p.Ser153=)
c.7359C>T (p.Ser2453=)
c.128C>T (n.128C>T)
c.7356C>T (p.Ser2452=)
c.7368C>T (p.Ser2456=)
c.7347C>T (p.Ser2449=)
c.7002C>T (p.Ser2334=)
c.3348C>T (p.Ser1116=)
c.7242C>T (p.Ser2414=)
c.7233C>T (p.Ser2411=)
c.7248C>T (p.Ser2416=)
c.1545C>T (p.Ser515=)
Xg.31774131G>CCA515859394DMDc.2217C>G (p.Ser739=)
c.-10C>G (n.-10C>G)
n.1032C>G
n.954C>G
n.863C>G
c.7371C>G (p.Ser2457=)
c.3339C>G (p.Ser1113=)
c.360C>G (p.Ser120=)
c.459C>G (p.Ser153=)
c.7359C>G (p.Ser2453=)
c.128C>G (n.128C>G)
c.7356C>G (p.Ser2452=)
c.7368C>G (p.Ser2456=)
c.7347C>G (p.Ser2449=)
c.7002C>G (p.Ser2334=)
c.3348C>G (p.Ser1116=)
c.7242C>G (p.Ser2414=)
c.7233C>G (p.Ser2411=)
c.7248C>G (p.Ser2416=)
c.1545C>G (p.Ser515=)
 ClinVar
Xg.31774131G>TCA515859395DMDc.2217C>A (p.Ser739=)
c.-10C>A (n.-10C>A)
n.1032C>A
n.954C>A
n.863C>A
c.7371C>A (p.Ser2457=)
c.3339C>A (p.Ser1113=)
c.360C>A (p.Ser120=)
c.459C>A (p.Ser153=)
c.7359C>A (p.Ser2453=)
c.128C>A (n.128C>A)
c.7356C>A (p.Ser2452=)
c.7368C>A (p.Ser2456=)
c.7347C>A (p.Ser2449=)
c.7002C>A (p.Ser2334=)
c.3348C>A (p.Ser1116=)
c.7242C>A (p.Ser2414=)
c.7233C>A (p.Ser2411=)
c.7248C>A (p.Ser2416=)
c.1545C>A (p.Ser515=)
Xg.31774132G>ACA10378283DMDc.2216C>T (p.Ser739Phe)
c.-11C>T (n.-11C>T)
n.1031C>T
n.953C>T
n.862C>T
c.7370C>T (p.Ser2457Phe)
c.3338C>T (p.Ser1113Phe)
c.359C>T (p.Ser120Phe)
c.458C>T (p.Ser153Phe)
c.7358C>T (p.Ser2453Phe)
c.127C>T (n.127C>T)
c.7355C>T (p.Ser2452Phe)
c.7367C>T (p.Ser2456Phe)
c.7346C>T (p.Ser2449Phe)
c.7001C>T (p.Ser2334Phe)
c.3347C>T (p.Ser1116Phe)
c.7241C>T (p.Ser2414Phe)
c.7232C>T (p.Ser2411Phe)
c.7247C>T (p.Ser2416Phe)
c.1544C>T (p.Ser515Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774132G>CCA412659076DMDc.2216C>G (p.Ser739Cys)
c.-11C>G (n.-11C>G)
n.1031C>G
n.953C>G
n.862C>G
c.7370C>G (p.Ser2457Cys)
c.3338C>G (p.Ser1113Cys)
c.359C>G (p.Ser120Cys)
c.458C>G (p.Ser153Cys)
c.7358C>G (p.Ser2453Cys)
c.127C>G (n.127C>G)
c.7355C>G (p.Ser2452Cys)
c.7367C>G (p.Ser2456Cys)
c.7346C>G (p.Ser2449Cys)
c.7001C>G (p.Ser2334Cys)
c.3347C>G (p.Ser1116Cys)
c.7241C>G (p.Ser2414Cys)
c.7232C>G (p.Ser2411Cys)
c.7247C>G (p.Ser2416Cys)
c.1544C>G (p.Ser515Cys)
Xg.31774132G=CA2422548662DMDc.2216C= (p.Ser739=)
c.-11C= (n.-11C=)
n.1031C=
n.953C=
n.862C=
c.7370C= (p.Ser2457=)
c.3338C= (p.Ser1113=)
c.359C= (p.Ser120=)
c.458C= (p.Ser153=)
c.7358C= (p.Ser2453=)
c.127C= (n.127C=)
c.7355C= (p.Ser2452=)
c.7367C= (p.Ser2456=)
c.7346C= (p.Ser2449=)
c.7001C= (p.Ser2334=)
c.3347C= (p.Ser1116=)
c.7241C= (p.Ser2414=)
c.7232C= (p.Ser2411=)
c.7247C= (p.Ser2416=)
c.1544C= (p.Ser515=)
Xg.31774132G>TCA412659077DMDc.2216C>A (p.Ser739Tyr)
c.-11C>A (n.-11C>A)
n.1031C>A
n.953C>A
n.862C>A
c.7370C>A (p.Ser2457Tyr)
c.3338C>A (p.Ser1113Tyr)
c.359C>A (p.Ser120Tyr)
c.458C>A (p.Ser153Tyr)
c.7358C>A (p.Ser2453Tyr)
c.127C>A (n.127C>A)
c.7355C>A (p.Ser2452Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7346C>A (p.Ser2449Tyr)
c.7001C>A (p.Ser2334Tyr)
c.3347C>A (p.Ser1116Tyr)
c.7241C>A (p.Ser2414Tyr)
c.7232C>A (p.Ser2411Tyr)
c.7247C>A (p.Ser2416Tyr)
c.1544C>A (p.Ser515Tyr)
Xg.31774133A>CCA412659078DMDc.2215T>G (p.Ser739Ala)
c.-12T>G (n.-12T>G)
n.1030T>G
n.952T>G
n.861T>G
c.7369T>G (p.Ser2457Ala)
c.3337T>G (p.Ser1113Ala)
c.358T>G (p.Ser120Ala)
c.457T>G (p.Ser153Ala)
c.7357T>G (p.Ser2453Ala)
c.126T>G (n.126T>G)
c.7354T>G (p.Ser2452Ala)
c.7366T>G (p.Ser2456Ala)
c.7345T>G (p.Ser2449Ala)
c.7000T>G (p.Ser2334Ala)
c.3346T>G (p.Ser1116Ala)
c.7240T>G (p.Ser2414Ala)
c.7231T>G (p.Ser2411Ala)
c.7246T>G (p.Ser2416Ala)
c.1543T>G (p.Ser515Ala)
Xg.31774133A>GCA412659079DMDc.2215T>C (p.Ser739Pro)
c.-12T>C (n.-12T>C)
n.1030T>C
n.952T>C
n.861T>C
c.7369T>C (p.Ser2457Pro)
c.3337T>C (p.Ser1113Pro)
c.358T>C (p.Ser120Pro)
c.457T>C (p.Ser153Pro)
c.7357T>C (p.Ser2453Pro)
c.126T>C (n.126T>C)
c.7354T>C (p.Ser2452Pro)
c.7366T>C (p.Ser2456Pro)
c.7345T>C (p.Ser2449Pro)
c.7000T>C (p.Ser2334Pro)
c.3346T>C (p.Ser1116Pro)
c.7240T>C (p.Ser2414Pro)
c.7231T>C (p.Ser2411Pro)
c.7246T>C (p.Ser2416Pro)
c.1543T>C (p.Ser515Pro)
Xg.31774133A>TCA412659080DMDc.2215T>A (p.Ser739Thr)
c.-12T>A (n.-12T>A)
n.1030T>A
n.952T>A
n.861T>A
c.7369T>A (p.Ser2457Thr)
c.3337T>A (p.Ser1113Thr)
c.358T>A (p.Ser120Thr)
c.457T>A (p.Ser153Thr)
c.7357T>A (p.Ser2453Thr)
c.126T>A (n.126T>A)
c.7354T>A (p.Ser2452Thr)
c.7366T>A (p.Ser2456Thr)
c.7345T>A (p.Ser2449Thr)
c.7000T>A (p.Ser2334Thr)
c.3346T>A (p.Ser1116Thr)
c.7240T>A (p.Ser2414Thr)
c.7231T>A (p.Ser2411Thr)
c.7246T>A (p.Ser2416Thr)
c.1543T>A (p.Ser515Thr)
Xg.31774134G>ACA515859396DMDc.2214C>T (p.Ile738=)
c.-13C>T (n.-13C>T)
n.1029C>T
n.951C>T
n.860C>T
c.7368C>T (p.Ile2456=)
c.3336C>T (p.Ile1112=)
c.357C>T (p.Ile119=)
c.456C>T (p.Ile152=)
c.7356C>T (p.Ile2452=)
c.125C>T (n.125C>T)
c.7353C>T (p.Ile2451=)
c.7365C>T (p.Ile2455=)
c.7344C>T (p.Ile2448=)
c.6999C>T (p.Ile2333=)
c.3345C>T (p.Ile1115=)
c.7239C>T (p.Ile2413=)
c.7230C>T (p.Ile2410=)
c.7245C>T (p.Ile2415=)
c.1542C>T (p.Ile514=)
Xg.31774134G>CCA412659081DMDc.2214C>G (p.Ile738Met)
c.-13C>G (n.-13C>G)
n.1029C>G
n.951C>G
n.860C>G
c.7368C>G (p.Ile2456Met)
c.3336C>G (p.Ile1112Met)
c.357C>G (p.Ile119Met)
c.456C>G (p.Ile152Met)
c.7356C>G (p.Ile2452Met)
c.125C>G (n.125C>G)
c.7353C>G (p.Ile2451Met)
c.7365C>G (p.Ile2455Met)
c.7344C>G (p.Ile2448Met)
c.6999C>G (p.Ile2333Met)
c.3345C>G (p.Ile1115Met)
c.7239C>G (p.Ile2413Met)
c.7230C>G (p.Ile2410Met)
c.7245C>G (p.Ile2415Met)
c.1542C>G (p.Ile514Met)
Xg.31774134G>TCA515859397DMDc.2214C>A (p.Ile738=)
c.-13C>A (n.-13C>A)
n.1029C>A
n.951C>A
n.860C>A
c.7368C>A (p.Ile2456=)
c.3336C>A (p.Ile1112=)
c.357C>A (p.Ile119=)
c.456C>A (p.Ile152=)
c.7356C>A (p.Ile2452=)
c.125C>A (n.125C>A)
c.7353C>A (p.Ile2451=)
c.7365C>A (p.Ile2455=)
c.7344C>A (p.Ile2448=)
c.6999C>A (p.Ile2333=)
c.3345C>A (p.Ile1115=)
c.7239C>A (p.Ile2413=)
c.7230C>A (p.Ile2410=)
c.7245C>A (p.Ile2415=)
c.1542C>A (p.Ile514=)
Xg.31774135A>CCA412659082DMDc.2213T>G (p.Ile738Ser)
c.-14T>G (n.-14T>G)
n.1028T>G
n.950T>G
n.859T>G
c.7367T>G (p.Ile2456Ser)
c.3335T>G (p.Ile1112Ser)
c.356T>G (p.Ile119Ser)
c.455T>G (p.Ile152Ser)
c.7355T>G (p.Ile2452Ser)
c.124T>G (n.124T>G)
c.7352T>G (p.Ile2451Ser)
c.7364T>G (p.Ile2455Ser)
c.7343T>G (p.Ile2448Ser)
c.6998T>G (p.Ile2333Ser)
c.3344T>G (p.Ile1115Ser)
c.7238T>G (p.Ile2413Ser)
c.7229T>G (p.Ile2410Ser)
c.7244T>G (p.Ile2415Ser)
c.1541T>G (p.Ile514Ser)
Xg.31774135A>GCA412659083DMDc.2213T>C (p.Ile738Thr)
c.-14T>C (n.-14T>C)
n.1028T>C
n.950T>C
n.859T>C
c.7367T>C (p.Ile2456Thr)
c.3335T>C (p.Ile1112Thr)
c.356T>C (p.Ile119Thr)
c.455T>C (p.Ile152Thr)
c.7355T>C (p.Ile2452Thr)
c.124T>C (n.124T>C)
c.7352T>C (p.Ile2451Thr)
c.7364T>C (p.Ile2455Thr)
c.7343T>C (p.Ile2448Thr)
c.6998T>C (p.Ile2333Thr)
c.3344T>C (p.Ile1115Thr)
c.7238T>C (p.Ile2413Thr)
c.7229T>C (p.Ile2410Thr)
c.7244T>C (p.Ile2415Thr)
c.1541T>C (p.Ile514Thr)
Xg.31774135A>TCA412659084DMDc.2213T>A (p.Ile738Asn)
c.-14T>A (n.-14T>A)
n.1028T>A
n.950T>A
n.859T>A
c.7367T>A (p.Ile2456Asn)
c.3335T>A (p.Ile1112Asn)
c.356T>A (p.Ile119Asn)
c.455T>A (p.Ile152Asn)
c.7355T>A (p.Ile2452Asn)
c.124T>A (n.124T>A)
c.7352T>A (p.Ile2451Asn)
c.7364T>A (p.Ile2455Asn)
c.7343T>A (p.Ile2448Asn)
c.6998T>A (p.Ile2333Asn)
c.3344T>A (p.Ile1115Asn)
c.7238T>A (p.Ile2413Asn)
c.7229T>A (p.Ile2410Asn)
c.7244T>A (p.Ile2415Asn)
c.1541T>A (p.Ile514Asn)
Xg.31774136T>ACA412659085DMDc.2212A>T (p.Ile738Phe)
c.-15A>T (n.-15A>T)
n.1027A>T
n.949A>T
n.858A>T
c.7366A>T (p.Ile2456Phe)
c.3334A>T (p.Ile1112Phe)
c.355A>T (p.Ile119Phe)
c.454A>T (p.Ile152Phe)
c.7354A>T (p.Ile2452Phe)
c.123A>T (n.123A>T)
c.7351A>T (p.Ile2451Phe)
c.7363A>T (p.Ile2455Phe)
c.7342A>T (p.Ile2448Phe)
c.6997A>T (p.Ile2333Phe)
c.3343A>T (p.Ile1115Phe)
c.7237A>T (p.Ile2413Phe)
c.7228A>T (p.Ile2410Phe)
c.7243A>T (p.Ile2415Phe)
c.1540A>T (p.Ile514Phe)
 gnomAD v4
Xg.31774136T>CCA412659086DMDc.2212A>G (p.Ile738Val)
c.-15A>G (n.-15A>G)
n.1027A>G
n.949A>G
n.858A>G
c.7366A>G (p.Ile2456Val)
c.3334A>G (p.Ile1112Val)
c.355A>G (p.Ile119Val)
c.454A>G (p.Ile152Val)
c.7354A>G (p.Ile2452Val)
c.123A>G (n.123A>G)
c.7351A>G (p.Ile2451Val)
c.7363A>G (p.Ile2455Val)
c.7342A>G (p.Ile2448Val)
c.6997A>G (p.Ile2333Val)
c.3343A>G (p.Ile1115Val)
c.7237A>G (p.Ile2413Val)
c.7228A>G (p.Ile2410Val)
c.7243A>G (p.Ile2415Val)
c.1540A>G (p.Ile514Val)
 ClinVar dbSNP gnomAD v4
Xg.31774136T>GCA412659087DMDc.2212A>C (p.Ile738Leu)
c.-15A>C (n.-15A>C)
n.1027A>C
n.949A>C
n.858A>C
c.7366A>C (p.Ile2456Leu)
c.3334A>C (p.Ile1112Leu)
c.355A>C (p.Ile119Leu)
c.454A>C (p.Ile152Leu)
c.7354A>C (p.Ile2452Leu)
c.123A>C (n.123A>C)
c.7351A>C (p.Ile2451Leu)
c.7363A>C (p.Ile2455Leu)
c.7342A>C (p.Ile2448Leu)
c.6997A>C (p.Ile2333Leu)
c.3343A>C (p.Ile1115Leu)
c.7237A>C (p.Ile2413Leu)
c.7228A>C (p.Ile2410Leu)
c.7243A>C (p.Ile2415Leu)
c.1540A>C (p.Ile514Leu)
Xg.31774136T=CA2422548663DMDc.2212A= (p.Ile738=)
c.-15A= (n.-15A=)
n.1027A=
n.949A=
n.858A=
c.7366A= (p.Ile2456=)
c.3334A= (p.Ile1112=)
c.355A= (p.Ile119=)
c.454A= (p.Ile152=)
c.7354A= (p.Ile2452=)
c.123A= (n.123A=)
c.7351A= (p.Ile2451=)
c.7363A= (p.Ile2455=)
c.7342A= (p.Ile2448=)
c.6997A= (p.Ile2333=)
c.3343A= (p.Ile1115=)
c.7237A= (p.Ile2413=)
c.7228A= (p.Ile2410=)
c.7243A= (p.Ile2415=)
c.1540A= (p.Ile514=)
Xg.31774137G>ACA515859400DMDc.2211C>T (p.Ala737=)
c.-16C>T (n.-16C>T)
n.1026C>T
n.948C>T
n.857C>T
c.7365C>T (p.Ala2455=)
c.3333C>T (p.Ala1111=)
c.354C>T (p.Ala118=)
c.453C>T (p.Ala151=)
c.7353C>T (p.Ala2451=)
c.122C>T (n.122C>T)
c.7350C>T (p.Ala2450=)
c.7362C>T (p.Ala2454=)
c.7341C>T (p.Ala2447=)
c.6996C>T (p.Ala2332=)
c.3342C>T (p.Ala1114=)
c.7236C>T (p.Ala2412=)
c.7227C>T (p.Ala2409=)
c.7242C>T (p.Ala2414=)
c.1539C>T (p.Ala513=)
 ClinVar dbSNP
Xg.31774137G>CCA515859398DMDc.2211C>G (p.Ala737=)
c.-16C>G (n.-16C>G)
n.1026C>G
n.948C>G
n.857C>G
c.7365C>G (p.Ala2455=)
c.3333C>G (p.Ala1111=)
c.354C>G (p.Ala118=)
c.453C>G (p.Ala151=)
c.7353C>G (p.Ala2451=)
c.122C>G (n.122C>G)
c.7350C>G (p.Ala2450=)
c.7362C>G (p.Ala2454=)
c.7341C>G (p.Ala2447=)
c.6996C>G (p.Ala2332=)
c.3342C>G (p.Ala1114=)
c.7236C>G (p.Ala2412=)
c.7227C>G (p.Ala2409=)
c.7242C>G (p.Ala2414=)
c.1539C>G (p.Ala513=)
Xg.31774137G>TCA515859399DMDc.2211C>A (p.Ala737=)
c.-16C>A (n.-16C>A)
n.1026C>A
n.948C>A
n.857C>A
c.7365C>A (p.Ala2455=)
c.3333C>A (p.Ala1111=)
c.354C>A (p.Ala118=)
c.453C>A (p.Ala151=)
c.7353C>A (p.Ala2451=)
c.122C>A (n.122C>A)
c.7350C>A (p.Ala2450=)
c.7362C>A (p.Ala2454=)
c.7341C>A (p.Ala2447=)
c.6996C>A (p.Ala2332=)
c.3342C>A (p.Ala1114=)
c.7236C>A (p.Ala2412=)
c.7227C>A (p.Ala2409=)
c.7242C>A (p.Ala2414=)
c.1539C>A (p.Ala513=)
Xg.31774138G>ACA412659089DMDc.2210C>T (p.Ala737Val)
c.-17C>T (n.-17C>T)
n.1025C>T
n.947C>T
n.856C>T
c.7364C>T (p.Ala2455Val)
c.3332C>T (p.Ala1111Val)
c.353C>T (p.Ala118Val)
c.452C>T (p.Ala151Val)
c.7352C>T (p.Ala2451Val)
c.121C>T (n.121C>T)
c.7349C>T (p.Ala2450Val)
c.7361C>T (p.Ala2454Val)
c.7340C>T (p.Ala2447Val)
c.6995C>T (p.Ala2332Val)
c.3341C>T (p.Ala1114Val)
c.7235C>T (p.Ala2412Val)
c.7226C>T (p.Ala2409Val)
c.7241C>T (p.Ala2414Val)
c.1538C>T (p.Ala513Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774138G>CCA412659090DMDc.2210C>G (p.Ala737Gly)
c.-17C>G (n.-17C>G)
n.1025C>G
n.947C>G
n.856C>G
c.7364C>G (p.Ala2455Gly)
c.3332C>G (p.Ala1111Gly)
c.353C>G (p.Ala118Gly)
c.452C>G (p.Ala151Gly)
c.7352C>G (p.Ala2451Gly)
c.121C>G (n.121C>G)
c.7349C>G (p.Ala2450Gly)
c.7361C>G (p.Ala2454Gly)
c.7340C>G (p.Ala2447Gly)
c.6995C>G (p.Ala2332Gly)
c.3341C>G (p.Ala1114Gly)
c.7235C>G (p.Ala2412Gly)
c.7226C>G (p.Ala2409Gly)
c.7241C>G (p.Ala2414Gly)
c.1538C>G (p.Ala513Gly)
Xg.31774138G=CA2422548664DMDc.2210C= (p.Ala737=)
c.-17C= (n.-17C=)
n.1025C=
n.947C=
n.856C=
c.7364C= (p.Ala2455=)
c.3332C= (p.Ala1111=)
c.353C= (p.Ala118=)
c.452C= (p.Ala151=)
c.7352C= (p.Ala2451=)
c.121C= (n.121C=)
c.7349C= (p.Ala2450=)
c.7361C= (p.Ala2454=)
c.7340C= (p.Ala2447=)
c.6995C= (p.Ala2332=)
c.3341C= (p.Ala1114=)
c.7235C= (p.Ala2412=)
c.7226C= (p.Ala2409=)
c.7241C= (p.Ala2414=)
c.1538C= (p.Ala513=)
Xg.31774138G>TCA412659088DMDc.2210C>A (p.Ala737Asp)
c.-17C>A (n.-17C>A)
n.1025C>A
n.947C>A
n.856C>A
c.7364C>A (p.Ala2455Asp)
c.3332C>A (p.Ala1111Asp)
c.353C>A (p.Ala118Asp)
c.452C>A (p.Ala151Asp)
c.7352C>A (p.Ala2451Asp)
c.121C>A (n.121C>A)
c.7349C>A (p.Ala2450Asp)
c.7361C>A (p.Ala2454Asp)
c.7340C>A (p.Ala2447Asp)
c.6995C>A (p.Ala2332Asp)
c.3341C>A (p.Ala1114Asp)
c.7235C>A (p.Ala2412Asp)
c.7226C>A (p.Ala2409Asp)
c.7241C>A (p.Ala2414Asp)
c.1538C>A (p.Ala513Asp)
Xg.31774139C>ACA412659091DMDc.2209G>T (p.Ala737Ser)
c.-18G>T (n.-18G>T)
n.1024G>T
n.946G>T
n.855G>T
c.7363G>T (p.Ala2455Ser)
c.3331G>T (p.Ala1111Ser)
c.352G>T (p.Ala118Ser)
c.451G>T (p.Ala151Ser)
c.7351G>T (p.Ala2451Ser)
c.120G>T (n.120G>T)
c.7348G>T (p.Ala2450Ser)
c.7360G>T (p.Ala2454Ser)
c.7339G>T (p.Ala2447Ser)
c.6994G>T (p.Ala2332Ser)
c.3340G>T (p.Ala1114Ser)
c.7234G>T (p.Ala2412Ser)
c.7225G>T (p.Ala2409Ser)
c.7240G>T (p.Ala2414Ser)
c.1537G>T (p.Ala513Ser)
Xg.31774139C=CA2422548665DMDc.2209G= (p.Ala737=)
c.-18G= (n.-18G=)
n.1024G=
n.946G=
n.855G=
c.7363G= (p.Ala2455=)
c.3331G= (p.Ala1111=)
c.352G= (p.Ala118=)
c.451G= (p.Ala151=)
c.7351G= (p.Ala2451=)
c.120G= (n.120G=)
c.7348G= (p.Ala2450=)
c.7360G= (p.Ala2454=)
c.7339G= (p.Ala2447=)
c.6994G= (p.Ala2332=)
c.3340G= (p.Ala1114=)
c.7234G= (p.Ala2412=)
c.7225G= (p.Ala2409=)
c.7240G= (p.Ala2414=)
c.1537G= (p.Ala513=)
Xg.31774139C>GCA412659092DMDc.2209G>C (p.Ala737Pro)
c.-18G>C (n.-18G>C)
n.1024G>C
n.946G>C
n.855G>C
c.7363G>C (p.Ala2455Pro)
c.3331G>C (p.Ala1111Pro)
c.352G>C (p.Ala118Pro)
c.451G>C (p.Ala151Pro)
c.7351G>C (p.Ala2451Pro)
c.120G>C (n.120G>C)
c.7348G>C (p.Ala2450Pro)
c.7360G>C (p.Ala2454Pro)
c.7339G>C (p.Ala2447Pro)
c.6994G>C (p.Ala2332Pro)
c.3340G>C (p.Ala1114Pro)
c.7234G>C (p.Ala2412Pro)
c.7225G>C (p.Ala2409Pro)
c.7240G>C (p.Ala2414Pro)
c.1537G>C (p.Ala513Pro)
 ClinVar dbSNP gnomAD v4
Xg.31774139C>TCA412659093DMDc.2209G>A (p.Ala737Thr)
c.-18G>A (n.-18G>A)
n.1024G>A
n.946G>A
n.855G>A
c.7363G>A (p.Ala2455Thr)
c.3331G>A (p.Ala1111Thr)
c.352G>A (p.Ala118Thr)
c.451G>A (p.Ala151Thr)
c.7351G>A (p.Ala2451Thr)
c.120G>A (n.120G>A)
c.7348G>A (p.Ala2450Thr)
c.7360G>A (p.Ala2454Thr)
c.7339G>A (p.Ala2447Thr)
c.6994G>A (p.Ala2332Thr)
c.3340G>A (p.Ala1114Thr)
c.7234G>A (p.Ala2412Thr)
c.7225G>A (p.Ala2409Thr)
c.7240G>A (p.Ala2414Thr)
c.1537G>A (p.Ala513Thr)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774140A>CCA515859401DMDc.2208T>G (p.Thr736=)
c.-19T>G (n.-19T>G)
n.1023T>G
n.945T>G
n.854T>G
c.7362T>G (p.Thr2454=)
c.3330T>G (p.Thr1110=)
c.351T>G (p.Thr117=)
c.450T>G (p.Thr150=)
c.7350T>G (p.Thr2450=)
c.119T>G (n.119T>G)
c.7347T>G (p.Thr2449=)
c.7359T>G (p.Thr2453=)
c.7338T>G (p.Thr2446=)
c.6993T>G (p.Thr2331=)
c.3339T>G (p.Thr1113=)
c.7233T>G (p.Thr2411=)
c.7224T>G (p.Thr2408=)
c.7239T>G (p.Thr2413=)
c.1536T>G (p.Thr512=)
 ClinVar
Xg.31774140A>GCA515859402DMDc.2208T>C (p.Thr736=)
c.-19T>C (n.-19T>C)
n.1023T>C
n.945T>C
n.854T>C
c.7362T>C (p.Thr2454=)
c.3330T>C (p.Thr1110=)
c.351T>C (p.Thr117=)
c.450T>C (p.Thr150=)
c.7350T>C (p.Thr2450=)
c.119T>C (n.119T>C)
c.7347T>C (p.Thr2449=)
c.7359T>C (p.Thr2453=)
c.7338T>C (p.Thr2446=)
c.6993T>C (p.Thr2331=)
c.3339T>C (p.Thr1113=)
c.7233T>C (p.Thr2411=)
c.7224T>C (p.Thr2408=)
c.7239T>C (p.Thr2413=)
c.1536T>C (p.Thr512=)
Xg.31774140A>TCA515859403DMDc.2208T>A (p.Thr736=)
c.-19T>A (n.-19T>A)
n.1023T>A
n.945T>A
n.854T>A
c.7362T>A (p.Thr2454=)
c.3330T>A (p.Thr1110=)
c.351T>A (p.Thr117=)
c.450T>A (p.Thr150=)
c.7350T>A (p.Thr2450=)
c.119T>A (n.119T>A)
c.7347T>A (p.Thr2449=)
c.7359T>A (p.Thr2453=)
c.7338T>A (p.Thr2446=)
c.6993T>A (p.Thr2331=)
c.3339T>A (p.Thr1113=)
c.7233T>A (p.Thr2411=)
c.7224T>A (p.Thr2408=)
c.7239T>A (p.Thr2413=)
c.1536T>A (p.Thr512=)
Xg.31774141G>ACA412659094DMDc.2207C>T (p.Thr736Ile)
c.-20C>T (n.-20C>T)
n.1022C>T
n.944C>T
n.853C>T
c.7361C>T (p.Thr2454Ile)
c.3329C>T (p.Thr1110Ile)
c.350C>T (p.Thr117Ile)
c.449C>T (p.Thr150Ile)
c.7349C>T (p.Thr2450Ile)
c.118C>T (n.118C>T)
c.7346C>T (p.Thr2449Ile)
c.7358C>T (p.Thr2453Ile)
c.7337C>T (p.Thr2446Ile)
c.6992C>T (p.Thr2331Ile)
c.3338C>T (p.Thr1113Ile)
c.7232C>T (p.Thr2411Ile)
c.7223C>T (p.Thr2408Ile)
c.7238C>T (p.Thr2413Ile)
c.1535C>T (p.Thr512Ile)
Xg.31774141G>CCA412659095DMDc.2207C>G (p.Thr736Ser)
c.-20C>G (n.-20C>G)
n.1022C>G
n.944C>G
n.853C>G
c.7361C>G (p.Thr2454Ser)
c.3329C>G (p.Thr1110Ser)
c.350C>G (p.Thr117Ser)
c.449C>G (p.Thr150Ser)
c.7349C>G (p.Thr2450Ser)
c.118C>G (n.118C>G)
c.7346C>G (p.Thr2449Ser)
c.7358C>G (p.Thr2453Ser)
c.7337C>G (p.Thr2446Ser)
c.6992C>G (p.Thr2331Ser)
c.3338C>G (p.Thr1113Ser)
c.7232C>G (p.Thr2411Ser)
c.7223C>G (p.Thr2408Ser)
c.7238C>G (p.Thr2413Ser)
c.1535C>G (p.Thr512Ser)
Xg.31774141G>TCA412659096DMDc.2207C>A (p.Thr736Asn)
c.-20C>A (n.-20C>A)
n.1022C>A
n.944C>A
n.853C>A
c.7361C>A (p.Thr2454Asn)
c.3329C>A (p.Thr1110Asn)
c.350C>A (p.Thr117Asn)
c.449C>A (p.Thr150Asn)
c.7349C>A (p.Thr2450Asn)
c.118C>A (n.118C>A)
c.7346C>A (p.Thr2449Asn)
c.7358C>A (p.Thr2453Asn)
c.7337C>A (p.Thr2446Asn)
c.6992C>A (p.Thr2331Asn)
c.3338C>A (p.Thr1113Asn)
c.7232C>A (p.Thr2411Asn)
c.7223C>A (p.Thr2408Asn)
c.7238C>A (p.Thr2413Asn)
c.1535C>A (p.Thr512Asn)
Xg.31774142T>ACA412659097DMDc.2206A>T (p.Thr736Ser)
c.-21A>T (n.-21A>T)
n.1021A>T
n.943A>T
n.852A>T
c.7360A>T (p.Thr2454Ser)
c.3328A>T (p.Thr1110Ser)
c.349A>T (p.Thr117Ser)
c.448A>T (p.Thr150Ser)
c.7348A>T (p.Thr2450Ser)
c.117A>T (n.117A>T)
c.7345A>T (p.Thr2449Ser)
c.7357A>T (p.Thr2453Ser)
c.7336A>T (p.Thr2446Ser)
c.6991A>T (p.Thr2331Ser)
c.3337A>T (p.Thr1113Ser)
c.7231A>T (p.Thr2411Ser)
c.7222A>T (p.Thr2408Ser)
c.7237A>T (p.Thr2413Ser)
c.1534A>T (p.Thr512Ser)
Xg.31774142T>CCA412659098DMDc.2206A>G (p.Thr736Ala)
c.-21A>G (n.-21A>G)
n.1021A>G
n.943A>G
n.852A>G
c.7360A>G (p.Thr2454Ala)
c.3328A>G (p.Thr1110Ala)
c.349A>G (p.Thr117Ala)
c.448A>G (p.Thr150Ala)
c.7348A>G (p.Thr2450Ala)
c.117A>G (n.117A>G)
c.7345A>G (p.Thr2449Ala)
c.7357A>G (p.Thr2453Ala)
c.7336A>G (p.Thr2446Ala)
c.6991A>G (p.Thr2331Ala)
c.3337A>G (p.Thr1113Ala)
c.7231A>G (p.Thr2411Ala)
c.7222A>G (p.Thr2408Ala)
c.7237A>G (p.Thr2413Ala)
c.1534A>G (p.Thr512Ala)
Xg.31774142T>GCA412659099DMDc.2206A>C (p.Thr736Pro)
c.-21A>C (n.-21A>C)
n.1021A>C
n.943A>C
n.852A>C
c.7360A>C (p.Thr2454Pro)
c.3328A>C (p.Thr1110Pro)
c.349A>C (p.Thr117Pro)
c.448A>C (p.Thr150Pro)
c.7348A>C (p.Thr2450Pro)
c.117A>C (n.117A>C)
c.7345A>C (p.Thr2449Pro)
c.7357A>C (p.Thr2453Pro)
c.7336A>C (p.Thr2446Pro)
c.6991A>C (p.Thr2331Pro)
c.3337A>C (p.Thr1113Pro)
c.7231A>C (p.Thr2411Pro)
c.7222A>C (p.Thr2408Pro)
c.7237A>C (p.Thr2413Pro)
c.1534A>C (p.Thr512Pro)
Xg.31774144dupCA2695232460DMDc.2206dup (p.Thr736AsnfsTer?)
c.-21dup (n.-21dup)
n.1021dup
n.943dup
n.852dup
c.7360dup (p.Thr2454AsnfsTer?)
c.3328dup (p.Thr1110AsnfsTer?)
c.349dup (p.Thr117AsnfsTer?)
c.448dup (p.Thr150AsnfsTer?)
c.7348dup (p.Thr2450AsnfsTer?)
c.117dup (n.117dup)
c.7345dup (p.Thr2449AsnfsTer?)
c.7357dup (p.Thr2453AsnfsTer?)
c.7336dup (p.Thr2446AsnfsTer?)
c.6991dup (p.Thr2331AsnfsTer?)
c.3337dup (p.Thr1113AsnfsTer?)
c.7231dup (p.Thr2411AsnfsTer?)
c.7222dup (p.Thr2408AsnfsTer?)
c.7237dup (p.Thr2413AsnfsTer?)
c.1534dup (p.Thr512AsnfsTer?)
Xg.31774143T>ACA412659100DMDc.2205A>T (p.Glu735Asp)
c.-22A>T (n.-22A>T)
n.1020A>T
n.942A>T
n.851A>T
c.7359A>T (p.Glu2453Asp)
c.3327A>T (p.Glu1109Asp)
c.348A>T (p.Glu116Asp)
c.447A>T (p.Glu149Asp)
c.7347A>T (p.Glu2449Asp)
c.116A>T (n.116A>T)
c.7344A>T (p.Glu2448Asp)
c.7356A>T (p.Glu2452Asp)
c.7335A>T (p.Glu2445Asp)
c.6990A>T (p.Glu2330Asp)
c.3336A>T (p.Glu1112Asp)
c.7230A>T (p.Glu2410Asp)
c.7221A>T (p.Glu2407Asp)
c.7236A>T (p.Glu2412Asp)
c.1533A>T (p.Glu511Asp)
Xg.31774143T>CCA10378284DMDc.2205A>G (p.Glu735=)
c.-22A>G (n.-22A>G)
n.1020A>G
n.942A>G
n.851A>G
c.7359A>G (p.Glu2453=)
c.3327A>G (p.Glu1109=)
c.348A>G (p.Glu116=)
c.447A>G (p.Glu149=)
c.7347A>G (p.Glu2449=)
c.116A>G (n.116A>G)
c.7344A>G (p.Glu2448=)
c.7356A>G (p.Glu2452=)
c.7335A>G (p.Glu2445=)
c.6990A>G (p.Glu2330=)
c.3336A>G (p.Glu1112=)
c.7230A>G (p.Glu2410=)
c.7221A>G (p.Glu2407=)
c.7236A>G (p.Glu2412=)
c.1533A>G (p.Glu511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774143T>GCA412659101DMDc.2205A>C (p.Glu735Asp)
c.-22A>C (n.-22A>C)
n.1020A>C
n.942A>C
n.851A>C
c.7359A>C (p.Glu2453Asp)
c.3327A>C (p.Glu1109Asp)
c.348A>C (p.Glu116Asp)
c.447A>C (p.Glu149Asp)
c.7347A>C (p.Glu2449Asp)
c.116A>C (n.116A>C)
c.7344A>C (p.Glu2448Asp)
c.7356A>C (p.Glu2452Asp)
c.7335A>C (p.Glu2445Asp)
c.6990A>C (p.Glu2330Asp)
c.3336A>C (p.Glu1112Asp)
c.7230A>C (p.Glu2410Asp)
c.7221A>C (p.Glu2407Asp)
c.7236A>C (p.Glu2412Asp)
c.1533A>C (p.Glu511Asp)
Xg.31774143T=CA2422548666DMDc.2205A= (p.Glu735=)
c.-22A= (n.-22A=)
n.1020A=
n.942A=
n.851A=
c.7359A= (p.Glu2453=)
c.3327A= (p.Glu1109=)
c.348A= (p.Glu116=)
c.447A= (p.Glu149=)
c.7347A= (p.Glu2449=)
c.116A= (n.116A=)
c.7344A= (p.Glu2448=)
c.7356A= (p.Glu2452=)
c.7335A= (p.Glu2445=)
c.6990A= (p.Glu2330=)
c.3336A= (p.Glu1112=)
c.7230A= (p.Glu2410=)
c.7221A= (p.Glu2407=)
c.7236A= (p.Glu2412=)
c.1533A= (p.Glu511=)
Xg.31774144T>ACA412659104DMDc.2204A>T (p.Glu735Val)
c.-23A>T (n.-23A>T)
n.1019A>T
n.941A>T
n.850A>T
c.7358A>T (p.Glu2453Val)
c.3326A>T (p.Glu1109Val)
c.347A>T (p.Glu116Val)
c.446A>T (p.Glu149Val)
c.7346A>T (p.Glu2449Val)
c.115A>T (n.115A>T)
c.7343A>T (p.Glu2448Val)
c.7355A>T (p.Glu2452Val)
c.7334A>T (p.Glu2445Val)
c.6989A>T (p.Glu2330Val)
c.3335A>T (p.Glu1112Val)
c.7229A>T (p.Glu2410Val)
c.7220A>T (p.Glu2407Val)
c.7235A>T (p.Glu2412Val)
c.1532A>T (p.Glu511Val)
Xg.31774144T>CCA412659102DMDc.2204A>G (p.Glu735Gly)
c.-23A>G (n.-23A>G)
n.1019A>G
n.941A>G
n.850A>G
c.7358A>G (p.Glu2453Gly)
c.3326A>G (p.Glu1109Gly)
c.347A>G (p.Glu116Gly)
c.446A>G (p.Glu149Gly)
c.7346A>G (p.Glu2449Gly)
c.115A>G (n.115A>G)
c.7343A>G (p.Glu2448Gly)
c.7355A>G (p.Glu2452Gly)
c.7334A>G (p.Glu2445Gly)
c.6989A>G (p.Glu2330Gly)
c.3335A>G (p.Glu1112Gly)
c.7229A>G (p.Glu2410Gly)
c.7220A>G (p.Glu2407Gly)
c.7235A>G (p.Glu2412Gly)
c.1532A>G (p.Glu511Gly)
Xg.31774144T>GCA412659103DMDc.2204A>C (p.Glu735Ala)
c.-23A>C (n.-23A>C)
n.1019A>C
n.941A>C
n.850A>C
c.7358A>C (p.Glu2453Ala)
c.3326A>C (p.Glu1109Ala)
c.347A>C (p.Glu116Ala)
c.446A>C (p.Glu149Ala)
c.7346A>C (p.Glu2449Ala)
c.115A>C (n.115A>C)
c.7343A>C (p.Glu2448Ala)
c.7355A>C (p.Glu2452Ala)
c.7334A>C (p.Glu2445Ala)
c.6989A>C (p.Glu2330Ala)
c.3335A>C (p.Glu1112Ala)
c.7229A>C (p.Glu2410Ala)
c.7220A>C (p.Glu2407Ala)
c.7235A>C (p.Glu2412Ala)
c.1532A>C (p.Glu511Ala)
Xg.31774145C>ACA412659105DMDc.2203G>T (p.Glu735Ter)
c.-24G>T (n.-24G>T)
n.1018G>T
n.940G>T
n.849G>T
c.7357G>T (p.Glu2453Ter)
c.3325G>T (p.Glu1109Ter)
c.346G>T (p.Glu116Ter)
c.445G>T (p.Glu149Ter)
c.7345G>T (p.Glu2449Ter)
c.114G>T (n.114G>T)
c.7342G>T (p.Glu2448Ter)
c.7354G>T (p.Glu2452Ter)
c.7333G>T (p.Glu2445Ter)
c.6988G>T (p.Glu2330Ter)
c.3334G>T (p.Glu1112Ter)
c.7228G>T (p.Glu2410Ter)
c.7219G>T (p.Glu2407Ter)
c.7234G>T (p.Glu2412Ter)
c.1531G>T (p.Glu511Ter)
Xg.31774145C>GCA412659106DMDc.2203G>C (p.Glu735Gln)
c.-24G>C (n.-24G>C)
n.1018G>C
n.940G>C
n.849G>C
c.7357G>C (p.Glu2453Gln)
c.3325G>C (p.Glu1109Gln)
c.346G>C (p.Glu116Gln)
c.445G>C (p.Glu149Gln)
c.7345G>C (p.Glu2449Gln)
c.114G>C (n.114G>C)
c.7342G>C (p.Glu2448Gln)
c.7354G>C (p.Glu2452Gln)
c.7333G>C (p.Glu2445Gln)
c.6988G>C (p.Glu2330Gln)
c.3334G>C (p.Glu1112Gln)
c.7228G>C (p.Glu2410Gln)
c.7219G>C (p.Glu2407Gln)
c.7234G>C (p.Glu2412Gln)
c.1531G>C (p.Glu511Gln)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774145C>TCA412659107DMDc.2203G>A (p.Glu735Lys)
c.-24G>A (n.-24G>A)
n.1018G>A
n.940G>A
n.849G>A
c.7357G>A (p.Glu2453Lys)
c.3325G>A (p.Glu1109Lys)
c.346G>A (p.Glu116Lys)
c.445G>A (p.Glu149Lys)
c.7345G>A (p.Glu2449Lys)
c.114G>A (n.114G>A)
c.7342G>A (p.Glu2448Lys)
c.7354G>A (p.Glu2452Lys)
c.7333G>A (p.Glu2445Lys)
c.6988G>A (p.Glu2330Lys)
c.3334G>A (p.Glu1112Lys)
c.7228G>A (p.Glu2410Lys)
c.7219G>A (p.Glu2407Lys)
c.7234G>A (p.Glu2412Lys)
c.1531G>A (p.Glu511Lys)
Xg.31774146C>ACA412659108DMDc.2202G>T (p.Lys734Asn)
c.-25G>T (n.-25G>T)
n.1017G>T
n.939G>T
n.848G>T
c.7356G>T (p.Lys2452Asn)
c.3324G>T (p.Lys1108Asn)
c.345G>T (p.Lys115Asn)
c.444G>T (p.Lys148Asn)
c.7344G>T (p.Lys2448Asn)
c.113G>T (n.113G>T)
c.7341G>T (p.Lys2447Asn)
c.7353G>T (p.Lys2451Asn)
c.7332G>T (p.Lys2444Asn)
c.6987G>T (p.Lys2329Asn)
c.3333G>T (p.Lys1111Asn)
c.7227G>T (p.Lys2409Asn)
c.7218G>T (p.Lys2406Asn)
c.7233G>T (p.Lys2411Asn)
c.1530G>T (p.Lys510Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774146C>GCA412659109DMDc.2202G>C (p.Lys734Asn)
c.-25G>C (n.-25G>C)
n.1017G>C
n.939G>C
n.848G>C
c.7356G>C (p.Lys2452Asn)
c.3324G>C (p.Lys1108Asn)
c.345G>C (p.Lys115Asn)
c.444G>C (p.Lys148Asn)
c.7344G>C (p.Lys2448Asn)
c.113G>C (n.113G>C)
c.7341G>C (p.Lys2447Asn)
c.7353G>C (p.Lys2451Asn)
c.7332G>C (p.Lys2444Asn)
c.6987G>C (p.Lys2329Asn)
c.3333G>C (p.Lys1111Asn)
c.7227G>C (p.Lys2409Asn)
c.7218G>C (p.Lys2406Asn)
c.7233G>C (p.Lys2411Asn)
c.1530G>C (p.Lys510Asn)
Xg.31774146C>TCA515859404DMDc.2202G>A (p.Lys734=)
c.-25G>A (n.-25G>A)
n.1017G>A
n.939G>A
n.848G>A
c.7356G>A (p.Lys2452=)
c.3324G>A (p.Lys1108=)
c.345G>A (p.Lys115=)
c.444G>A (p.Lys148=)
c.7344G>A (p.Lys2448=)
c.113G>A (n.113G>A)
c.7341G>A (p.Lys2447=)
c.7353G>A (p.Lys2451=)
c.7332G>A (p.Lys2444=)
c.6987G>A (p.Lys2329=)
c.3333G>A (p.Lys1111=)
c.7227G>A (p.Lys2409=)
c.7218G>A (p.Lys2406=)
c.7233G>A (p.Lys2411=)
c.1530G>A (p.Lys510=)
 gnomAD v4
Xg.31774147T>ACA412659110DMDc.2201A>T (p.Lys734Met)
c.-26A>T (n.-26A>T)
n.1016A>T
n.938A>T
n.847A>T
c.7355A>T (p.Lys2452Met)
c.3323A>T (p.Lys1108Met)
c.344A>T (p.Lys115Met)
c.443A>T (p.Lys148Met)
c.7343A>T (p.Lys2448Met)
c.112A>T (n.112A>T)
c.7340A>T (p.Lys2447Met)
c.7352A>T (p.Lys2451Met)
c.7331A>T (p.Lys2444Met)
c.6986A>T (p.Lys2329Met)
c.3332A>T (p.Lys1111Met)
c.7226A>T (p.Lys2409Met)
c.7217A>T (p.Lys2406Met)
c.7232A>T (p.Lys2411Met)
c.1529A>T (p.Lys510Met)
Xg.31774147T>CCA412659111DMDc.2201A>G (p.Lys734Arg)
c.-26A>G (n.-26A>G)
n.1016A>G
n.938A>G
n.847A>G
c.7355A>G (p.Lys2452Arg)
c.3323A>G (p.Lys1108Arg)
c.344A>G (p.Lys115Arg)
c.443A>G (p.Lys148Arg)
c.7343A>G (p.Lys2448Arg)
c.112A>G (n.112A>G)
c.7340A>G (p.Lys2447Arg)
c.7352A>G (p.Lys2451Arg)
c.7331A>G (p.Lys2444Arg)
c.6986A>G (p.Lys2329Arg)
c.3332A>G (p.Lys1111Arg)
c.7226A>G (p.Lys2409Arg)
c.7217A>G (p.Lys2406Arg)
c.7232A>G (p.Lys2411Arg)
c.1529A>G (p.Lys510Arg)
 gnomAD v4
Xg.31774147T>GCA412659112DMDc.2201A>C (p.Lys734Thr)
c.-26A>C (n.-26A>C)
n.1016A>C
n.938A>C
n.847A>C
c.7355A>C (p.Lys2452Thr)
c.3323A>C (p.Lys1108Thr)
c.344A>C (p.Lys115Thr)
c.443A>C (p.Lys148Thr)
c.7343A>C (p.Lys2448Thr)
c.112A>C (n.112A>C)
c.7340A>C (p.Lys2447Thr)
c.7352A>C (p.Lys2451Thr)
c.7331A>C (p.Lys2444Thr)
c.6986A>C (p.Lys2329Thr)
c.3332A>C (p.Lys1111Thr)
c.7226A>C (p.Lys2409Thr)
c.7217A>C (p.Lys2406Thr)
c.7232A>C (p.Lys2411Thr)
c.1529A>C (p.Lys510Thr)
Xg.31774148T>ACA412659113DMDc.2200A>T (p.Lys734Ter)
c.-27A>T (n.-27A>T)
n.1015A>T
n.937A>T
n.846A>T
c.7354A>T (p.Lys2452Ter)
c.3322A>T (p.Lys1108Ter)
c.343A>T (p.Lys115Ter)
c.442A>T (p.Lys148Ter)
c.7342A>T (p.Lys2448Ter)
c.111A>T (n.111A>T)
c.7339A>T (p.Lys2447Ter)
c.7351A>T (p.Lys2451Ter)
c.7330A>T (p.Lys2444Ter)
c.6985A>T (p.Lys2329Ter)
c.3331A>T (p.Lys1111Ter)
c.7225A>T (p.Lys2409Ter)
c.7216A>T (p.Lys2406Ter)
c.7231A>T (p.Lys2411Ter)
c.1528A>T (p.Lys510Ter)
Xg.31774148T>CCA10605886DMDc.2200A>G (p.Lys734Glu)
c.-27A>G (n.-27A>G)
n.1015A>G
n.937A>G
n.846A>G
c.7354A>G (p.Lys2452Glu)
c.3322A>G (p.Lys1108Glu)
c.343A>G (p.Lys115Glu)
c.442A>G (p.Lys148Glu)
c.7342A>G (p.Lys2448Glu)
c.111A>G (n.111A>G)
c.7339A>G (p.Lys2447Glu)
c.7351A>G (p.Lys2451Glu)
c.7330A>G (p.Lys2444Glu)
c.6985A>G (p.Lys2329Glu)
c.3331A>G (p.Lys1111Glu)
c.7225A>G (p.Lys2409Glu)
c.7216A>G (p.Lys2406Glu)
c.7231A>G (p.Lys2411Glu)
c.1528A>G (p.Lys510Glu)
 ClinVar dbSNP gnomAD v4
Xg.31774148T>GCA412659114DMDc.2200A>C (p.Lys734Gln)
c.-27A>C (n.-27A>C)
n.1015A>C
n.937A>C
n.846A>C
c.7354A>C (p.Lys2452Gln)
c.3322A>C (p.Lys1108Gln)
c.343A>C (p.Lys115Gln)
c.442A>C (p.Lys148Gln)
c.7342A>C (p.Lys2448Gln)
c.111A>C (n.111A>C)
c.7339A>C (p.Lys2447Gln)
c.7351A>C (p.Lys2451Gln)
c.7330A>C (p.Lys2444Gln)
c.6985A>C (p.Lys2329Gln)
c.3331A>C (p.Lys1111Gln)
c.7225A>C (p.Lys2409Gln)
c.7216A>C (p.Lys2406Gln)
c.7231A>C (p.Lys2411Gln)
c.1528A>C (p.Lys510Gln)
Xg.31774148T=CA2422548667DMDc.2200A= (p.Lys734=)
c.-27A= (n.-27A=)
n.1015A=
n.937A=
n.846A=
c.7354A= (p.Lys2452=)
c.3322A= (p.Lys1108=)
c.343A= (p.Lys115=)
c.442A= (p.Lys148=)
c.7342A= (p.Lys2448=)
c.111A= (n.111A=)
c.7339A= (p.Lys2447=)
c.7351A= (p.Lys2451=)
c.7330A= (p.Lys2444=)
c.6985A= (p.Lys2329=)
c.3331A= (p.Lys1111=)
c.7225A= (p.Lys2409=)
c.7216A= (p.Lys2406=)
c.7231A= (p.Lys2411=)
c.1528A= (p.Lys510=)
Xg.31774149A>CCA515859405DMDc.2199T>G (p.Thr733=)
c.-28T>G (n.-28T>G)
n.1014T>G
n.936T>G
n.845T>G
c.7353T>G (p.Thr2451=)
c.3321T>G (p.Thr1107=)
c.342T>G (p.Thr114=)
c.441T>G (p.Thr147=)
c.7341T>G (p.Thr2447=)
c.110T>G (n.110T>G)
c.7338T>G (p.Thr2446=)
c.7350T>G (p.Thr2450=)
c.7329T>G (p.Thr2443=)
c.6984T>G (p.Thr2328=)
c.3330T>G (p.Thr1110=)
c.7224T>G (p.Thr2408=)
c.7215T>G (p.Thr2405=)
c.7230T>G (p.Thr2410=)
c.1527T>G (p.Thr509=)
Xg.31774149A>GCA515859406DMDc.2199T>C (p.Thr733=)
c.-28T>C (n.-28T>C)
n.1014T>C
n.936T>C
n.845T>C
c.7353T>C (p.Thr2451=)
c.3321T>C (p.Thr1107=)
c.342T>C (p.Thr114=)
c.441T>C (p.Thr147=)
c.7341T>C (p.Thr2447=)
c.110T>C (n.110T>C)
c.7338T>C (p.Thr2446=)
c.7350T>C (p.Thr2450=)
c.7329T>C (p.Thr2443=)
c.6984T>C (p.Thr2328=)
c.3330T>C (p.Thr1110=)
c.7224T>C (p.Thr2408=)
c.7215T>C (p.Thr2405=)
c.7230T>C (p.Thr2410=)
c.1527T>C (p.Thr509=)
 ClinVar dbSNP
Xg.31774149A>TCA515859407DMDc.2199T>A (p.Thr733=)
c.-28T>A (n.-28T>A)
n.1014T>A
n.936T>A
n.845T>A
c.7353T>A (p.Thr2451=)
c.3321T>A (p.Thr1107=)
c.342T>A (p.Thr114=)
c.441T>A (p.Thr147=)
c.7341T>A (p.Thr2447=)
c.110T>A (n.110T>A)
c.7338T>A (p.Thr2446=)
c.7350T>A (p.Thr2450=)
c.7329T>A (p.Thr2443=)
c.6984T>A (p.Thr2328=)
c.3330T>A (p.Thr1110=)
c.7224T>A (p.Thr2408=)
c.7215T>A (p.Thr2405=)
c.7230T>A (p.Thr2410=)
c.1527T>A (p.Thr509=)
Xg.31774149dupCA2695232461DMDc.2199dup (p.Lys734Ter)
c.-28dup (n.-28dup)
n.1014dup
n.936dup
n.845dup
c.7353dup (p.Lys2452Ter)
c.3321dup (p.Lys1108Ter)
c.342dup (p.Lys115Ter)
c.441dup (p.Lys148Ter)
c.7341dup (p.Lys2448Ter)
c.110dup (n.110dup)
c.7338dup (p.Lys2447Ter)
c.7350dup (p.Lys2451Ter)
c.7329dup (p.Lys2444Ter)
c.6984dup (p.Lys2329Ter)
c.3330dup (p.Lys1111Ter)
c.7224dup (p.Lys2409Ter)
c.7215dup (p.Lys2406Ter)
c.7230dup (p.Lys2411Ter)
c.1527dup (p.Lys510Ter)
Xg.31774150G>ACA412659116DMDc.2198C>T (p.Thr733Ile)
c.-29C>T (n.-29C>T)
n.1013C>T
n.935C>T
n.844C>T
c.7352C>T (p.Thr2451Ile)
c.3320C>T (p.Thr1107Ile)
c.341C>T (p.Thr114Ile)
c.440C>T (p.Thr147Ile)
c.7340C>T (p.Thr2447Ile)
c.109C>T (n.109C>T)
c.7337C>T (p.Thr2446Ile)
c.7349C>T (p.Thr2450Ile)
c.7328C>T (p.Thr2443Ile)
c.6983C>T (p.Thr2328Ile)
c.3329C>T (p.Thr1110Ile)
c.7223C>T (p.Thr2408Ile)
c.7214C>T (p.Thr2405Ile)
c.7229C>T (p.Thr2410Ile)
c.1526C>T (p.Thr509Ile)
Xg.31774150G>CCA412659117DMDc.2198C>G (p.Thr733Ser)
c.-29C>G (n.-29C>G)
n.1013C>G
n.935C>G
n.844C>G
c.7352C>G (p.Thr2451Ser)
c.3320C>G (p.Thr1107Ser)
c.341C>G (p.Thr114Ser)
c.440C>G (p.Thr147Ser)
c.7340C>G (p.Thr2447Ser)
c.109C>G (n.109C>G)
c.7337C>G (p.Thr2446Ser)
c.7349C>G (p.Thr2450Ser)
c.7328C>G (p.Thr2443Ser)
c.6983C>G (p.Thr2328Ser)
c.3329C>G (p.Thr1110Ser)
c.7223C>G (p.Thr2408Ser)
c.7214C>G (p.Thr2405Ser)
c.7229C>G (p.Thr2410Ser)
c.1526C>G (p.Thr509Ser)
Xg.31774150G>TCA412659115DMDc.2198C>A (p.Thr733Asn)
c.-29C>A (n.-29C>A)
n.1013C>A
n.935C>A
n.844C>A
c.7352C>A (p.Thr2451Asn)
c.3320C>A (p.Thr1107Asn)
c.341C>A (p.Thr114Asn)
c.440C>A (p.Thr147Asn)
c.7340C>A (p.Thr2447Asn)
c.109C>A (n.109C>A)
c.7337C>A (p.Thr2446Asn)
c.7349C>A (p.Thr2450Asn)
c.7328C>A (p.Thr2443Asn)
c.6983C>A (p.Thr2328Asn)
c.3329C>A (p.Thr1110Asn)
c.7223C>A (p.Thr2408Asn)
c.7214C>A (p.Thr2405Asn)
c.7229C>A (p.Thr2410Asn)
c.1526C>A (p.Thr509Asn)
Xg.31774151T>ACA412659119DMDc.2197A>T (p.Thr733Ser)
c.-30A>T (n.-30A>T)
n.1012A>T
n.934A>T
n.843A>T
c.7351A>T (p.Thr2451Ser)
c.3319A>T (p.Thr1107Ser)
c.340A>T (p.Thr114Ser)
c.439A>T (p.Thr147Ser)
c.7339A>T (p.Thr2447Ser)
c.108A>T (n.108A>T)
c.7336A>T (p.Thr2446Ser)
c.7348A>T (p.Thr2450Ser)
c.7327A>T (p.Thr2443Ser)
c.6982A>T (p.Thr2328Ser)
c.3328A>T (p.Thr1110Ser)
c.7222A>T (p.Thr2408Ser)
c.7213A>T (p.Thr2405Ser)
c.7228A>T (p.Thr2410Ser)
c.1525A>T (p.Thr509Ser)
Xg.31774151T>CCA412659118DMDc.2197A>G (p.Thr733Ala)
c.-30A>G (n.-30A>G)
n.1012A>G
n.934A>G
n.843A>G
c.7351A>G (p.Thr2451Ala)
c.3319A>G (p.Thr1107Ala)
c.340A>G (p.Thr114Ala)
c.439A>G (p.Thr147Ala)
c.7339A>G (p.Thr2447Ala)
c.108A>G (n.108A>G)
c.7336A>G (p.Thr2446Ala)
c.7348A>G (p.Thr2450Ala)
c.7327A>G (p.Thr2443Ala)
c.6982A>G (p.Thr2328Ala)
c.3328A>G (p.Thr1110Ala)
c.7222A>G (p.Thr2408Ala)
c.7213A>G (p.Thr2405Ala)
c.7228A>G (p.Thr2410Ala)
c.1525A>G (p.Thr509Ala)
 ClinVar
Xg.31774151T>GCA412659120DMDc.2197A>C (p.Thr733Pro)
c.-30A>C (n.-30A>C)
n.1012A>C
n.934A>C
n.843A>C
c.7351A>C (p.Thr2451Pro)
c.3319A>C (p.Thr1107Pro)
c.340A>C (p.Thr114Pro)
c.439A>C (p.Thr147Pro)
c.7339A>C (p.Thr2447Pro)
c.108A>C (n.108A>C)
c.7336A>C (p.Thr2446Pro)
c.7348A>C (p.Thr2450Pro)
c.7327A>C (p.Thr2443Pro)
c.6982A>C (p.Thr2328Pro)
c.3328A>C (p.Thr1110Pro)
c.7222A>C (p.Thr2408Pro)
c.7213A>C (p.Thr2405Pro)
c.7228A>C (p.Thr2410Pro)
c.1525A>C (p.Thr509Pro)
Xg.31774152A>CCA515859408DMDc.2196T>G (p.Val732=)
c.-31T>G (n.-31T>G)
n.1011T>G
n.933T>G
n.842T>G
c.7350T>G (p.Val2450=)
c.3318T>G (p.Val1106=)
c.339T>G (p.Val113=)
c.438T>G (p.Val146=)
c.7338T>G (p.Val2446=)
c.107T>G (n.107T>G)
c.7335T>G (p.Val2445=)
c.7347T>G (p.Val2449=)
c.7326T>G (p.Val2442=)
c.6981T>G (p.Val2327=)
c.3327T>G (p.Val1109=)
c.7221T>G (p.Val2407=)
c.7212T>G (p.Val2404=)
c.7227T>G (p.Val2409=)
c.1524T>G (p.Val508=)
Xg.31774152A>GCA515859409DMDc.2196T>C (p.Val732=)
c.-31T>C (n.-31T>C)
n.1011T>C
n.933T>C
n.842T>C
c.7350T>C (p.Val2450=)
c.3318T>C (p.Val1106=)
c.339T>C (p.Val113=)
c.438T>C (p.Val146=)
c.7338T>C (p.Val2446=)
c.107T>C (n.107T>C)
c.7335T>C (p.Val2445=)
c.7347T>C (p.Val2449=)
c.7326T>C (p.Val2442=)
c.6981T>C (p.Val2327=)
c.3327T>C (p.Val1109=)
c.7221T>C (p.Val2407=)
c.7212T>C (p.Val2404=)
c.7227T>C (p.Val2409=)
c.1524T>C (p.Val508=)
Xg.31774152A>TCA515859410DMDc.2196T>A (p.Val732=)
c.-31T>A (n.-31T>A)
n.1011T>A
n.933T>A
n.842T>A
c.7350T>A (p.Val2450=)
c.3318T>A (p.Val1106=)
c.339T>A (p.Val113=)
c.438T>A (p.Val146=)
c.7338T>A (p.Val2446=)
c.107T>A (n.107T>A)
c.7335T>A (p.Val2445=)
c.7347T>A (p.Val2449=)
c.7326T>A (p.Val2442=)
c.6981T>A (p.Val2327=)
c.3327T>A (p.Val1109=)
c.7221T>A (p.Val2407=)
c.7212T>A (p.Val2404=)
c.7227T>A (p.Val2409=)
c.1524T>A (p.Val508=)
Xg.31774153A>CCA412659121DMDc.2195T>G (p.Val732Gly)
c.-32T>G (n.-32T>G)
n.1010T>G
n.932T>G
n.841T>G
c.7349T>G (p.Val2450Gly)
c.3317T>G (p.Val1106Gly)
c.338T>G (p.Val113Gly)
c.437T>G (p.Val146Gly)
c.7337T>G (p.Val2446Gly)
c.106T>G (n.106T>G)
c.7334T>G (p.Val2445Gly)
c.7346T>G (p.Val2449Gly)
c.7325T>G (p.Val2442Gly)
c.6980T>G (p.Val2327Gly)
c.3326T>G (p.Val1109Gly)
c.7220T>G (p.Val2407Gly)
c.7211T>G (p.Val2404Gly)
c.7226T>G (p.Val2409Gly)
c.1523T>G (p.Val508Gly)
Xg.31774153A>GCA412659123DMDc.2195T>C (p.Val732Ala)
c.-32T>C (n.-32T>C)
n.1010T>C
n.932T>C
n.841T>C
c.7349T>C (p.Val2450Ala)
c.3317T>C (p.Val1106Ala)
c.338T>C (p.Val113Ala)
c.437T>C (p.Val146Ala)
c.7337T>C (p.Val2446Ala)
c.106T>C (n.106T>C)
c.7334T>C (p.Val2445Ala)
c.7346T>C (p.Val2449Ala)
c.7325T>C (p.Val2442Ala)
c.6980T>C (p.Val2327Ala)
c.3326T>C (p.Val1109Ala)
c.7220T>C (p.Val2407Ala)
c.7211T>C (p.Val2404Ala)
c.7226T>C (p.Val2409Ala)
c.1523T>C (p.Val508Ala)
Xg.31774153A>TCA412659122DMDc.2195T>A (p.Val732Asp)
c.-32T>A (n.-32T>A)
n.1010T>A
n.932T>A
n.841T>A
c.7349T>A (p.Val2450Asp)
c.3317T>A (p.Val1106Asp)
c.338T>A (p.Val113Asp)
c.437T>A (p.Val146Asp)
c.7337T>A (p.Val2446Asp)
c.106T>A (n.106T>A)
c.7334T>A (p.Val2445Asp)
c.7346T>A (p.Val2449Asp)
c.7325T>A (p.Val2442Asp)
c.6980T>A (p.Val2327Asp)
c.3326T>A (p.Val1109Asp)
c.7220T>A (p.Val2407Asp)
c.7211T>A (p.Val2404Asp)
c.7226T>A (p.Val2409Asp)
c.1523T>A (p.Val508Asp)
Xg.31774154C>ACA412659124DMDc.2194G>T (p.Val732Phe)
c.-33G>T (n.-33G>T)
n.1009G>T
n.931G>T
n.840G>T
c.7348G>T (p.Val2450Phe)
c.3316G>T (p.Val1106Phe)
c.337G>T (p.Val113Phe)
c.436G>T (p.Val146Phe)
c.7336G>T (p.Val2446Phe)
c.105G>T (n.105G>T)
c.7333G>T (p.Val2445Phe)
c.7345G>T (p.Val2449Phe)
c.7324G>T (p.Val2442Phe)
c.6979G>T (p.Val2327Phe)
c.3325G>T (p.Val1109Phe)
c.7219G>T (p.Val2407Phe)
c.7210G>T (p.Val2404Phe)
c.7225G>T (p.Val2409Phe)
c.1522G>T (p.Val508Phe)
Xg.31774154C=CA2422548668DMDc.2194G= (p.Val732=)
c.-33G= (n.-33G=)
n.1009G=
n.931G=
n.840G=
c.7348G= (p.Val2450=)
c.3316G= (p.Val1106=)
c.337G= (p.Val113=)
c.436G= (p.Val146=)
c.7336G= (p.Val2446=)
c.105G= (n.105G=)
c.7333G= (p.Val2445=)
c.7345G= (p.Val2449=)
c.7324G= (p.Val2442=)
c.6979G= (p.Val2327=)
c.3325G= (p.Val1109=)
c.7219G= (p.Val2407=)
c.7210G= (p.Val2404=)
c.7225G= (p.Val2409=)
c.1522G= (p.Val508=)
Xg.31774154C>GCA412659125DMDc.2194G>C (p.Val732Leu)
c.-33G>C (n.-33G>C)
n.1009G>C
n.931G>C
n.840G>C
c.7348G>C (p.Val2450Leu)
c.3316G>C (p.Val1106Leu)
c.337G>C (p.Val113Leu)
c.436G>C (p.Val146Leu)
c.7336G>C (p.Val2446Leu)
c.105G>C (n.105G>C)
c.7333G>C (p.Val2445Leu)
c.7345G>C (p.Val2449Leu)
c.7324G>C (p.Val2442Leu)
c.6979G>C (p.Val2327Leu)
c.3325G>C (p.Val1109Leu)
c.7219G>C (p.Val2407Leu)
c.7210G>C (p.Val2404Leu)
c.7225G>C (p.Val2409Leu)
c.1522G>C (p.Val508Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31774154C>TCA412659126DMDc.2194G>A (p.Val732Ile)
c.-33G>A (n.-33G>A)
n.1009G>A
n.931G>A
n.840G>A
c.7348G>A (p.Val2450Ile)
c.3316G>A (p.Val1106Ile)
c.337G>A (p.Val113Ile)
c.436G>A (p.Val146Ile)
c.7336G>A (p.Val2446Ile)
c.105G>A (n.105G>A)
c.7333G>A (p.Val2445Ile)
c.7345G>A (p.Val2449Ile)
c.7324G>A (p.Val2442Ile)
c.6979G>A (p.Val2327Ile)
c.3325G>A (p.Val1109Ile)
c.7219G>A (p.Val2407Ile)
c.7210G>A (p.Val2404Ile)
c.7225G>A (p.Val2409Ile)
c.1522G>A (p.Val508Ile)
Xg.31774155dupCA2695232464DMDc.2194dup (p.Val732GlyfsTer3)
c.-33dup (n.-33dup)
n.1009dup
n.931dup
n.840dup
c.7348dup (p.Val2450GlyfsTer3)
c.3316dup (p.Val1106GlyfsTer3)
c.337dup (p.Val113GlyfsTer3)
c.436dup (p.Val146GlyfsTer3)
c.7336dup (p.Val2446GlyfsTer3)
c.105dup (n.105dup)
c.7333dup (p.Val2445GlyfsTer3)
c.7345dup (p.Val2449GlyfsTer3)
c.7324dup (p.Val2442GlyfsTer3)
c.6979dup (p.Val2327GlyfsTer3)
c.3325dup (p.Val1109GlyfsTer3)
c.7219dup (p.Val2407GlyfsTer3)
c.7210dup (p.Val2404GlyfsTer3)
c.7225dup (p.Val2409GlyfsTer3)
c.1522dup (p.Val508GlyfsTer3)
Xg.31774155delCA2695232463DMDc.2194del (p.Val732LeufsTer10)
c.-33del (n.-33del)
n.1009del
n.931del
n.840del
c.7348del (p.Val2450LeufsTer10)
c.3316del (p.Val1106LeufsTer10)
c.337del (p.Val113LeufsTer10)
c.436del (p.Val146LeufsTer10)
c.7336del (p.Val2446LeufsTer10)
c.105del (n.105del)
c.7333del (p.Val2445LeufsTer10)
c.7345del (p.Val2449LeufsTer10)
c.7324del (p.Val2442LeufsTer10)
c.6979del (p.Val2327LeufsTer10)
c.3325del (p.Val1109LeufsTer10)
c.7219del (p.Val2407LeufsTer10)
c.7210del (p.Val2404LeufsTer10)
c.7225del (p.Val2409LeufsTer10)
c.1522del (p.Val508LeufsTer10)
Xg.31774155C>ACA515859411DMDc.2193G>T (p.Val731=)
c.-34G>T (n.-34G>T)
n.1008G>T
n.930G>T
n.839G>T
c.7347G>T (p.Val2449=)
c.3315G>T (p.Val1105=)
c.336G>T (p.Val112=)
c.435G>T (p.Val145=)
c.7335G>T (p.Val2445=)
c.104G>T (n.104G>T)
c.7332G>T (p.Val2444=)
c.7344G>T (p.Val2448=)
c.7323G>T (p.Val2441=)
c.6978G>T (p.Val2326=)
c.3324G>T (p.Val1108=)
c.7218G>T (p.Val2406=)
c.7209G>T (p.Val2403=)
c.7224G>T (p.Val2408=)
c.1521G>T (p.Val507=)
Xg.31774155C>GCA515859412DMDc.2193G>C (p.Val731=)
c.-34G>C (n.-34G>C)
n.1008G>C
n.930G>C
n.839G>C
c.7347G>C (p.Val2449=)
c.3315G>C (p.Val1105=)
c.336G>C (p.Val112=)
c.435G>C (p.Val145=)
c.7335G>C (p.Val2445=)
c.104G>C (n.104G>C)
c.7332G>C (p.Val2444=)
c.7344G>C (p.Val2448=)
c.7323G>C (p.Val2441=)
c.6978G>C (p.Val2326=)
c.3324G>C (p.Val1108=)
c.7218G>C (p.Val2406=)
c.7209G>C (p.Val2403=)
c.7224G>C (p.Val2408=)
c.1521G>C (p.Val507=)
 gnomAD v4
Xg.31774155C>TCA515859413DMDc.2193G>A (p.Val731=)
c.-34G>A (n.-34G>A)
n.1008G>A
n.930G>A
n.839G>A
c.7347G>A (p.Val2449=)
c.3315G>A (p.Val1105=)
c.336G>A (p.Val112=)
c.435G>A (p.Val145=)
c.7335G>A (p.Val2445=)
c.104G>A (n.104G>A)
c.7332G>A (p.Val2444=)
c.7344G>A (p.Val2448=)
c.7323G>A (p.Val2441=)
c.6978G>A (p.Val2326=)
c.3324G>A (p.Val1108=)
c.7218G>A (p.Val2406=)
c.7209G>A (p.Val2403=)
c.7224G>A (p.Val2408=)
c.1521G>A (p.Val507=)
Xg.31774156A=CA2422548669DMDc.2192T= (p.Val731=)
c.-35T= (n.-35T=)
n.1007T=
n.929T=
n.838T=
c.7346T= (p.Val2449=)
c.3314T= (p.Val1105=)
c.335T= (p.Val112=)
c.434T= (p.Val145=)
c.7334T= (p.Val2445=)
c.103T= (n.103T=)
c.7331T= (p.Val2444=)
c.7343T= (p.Val2448=)
c.7322T= (p.Val2441=)
c.6977T= (p.Val2326=)
c.3323T= (p.Val1108=)
c.7217T= (p.Val2406=)
c.7208T= (p.Val2403=)
c.7223T= (p.Val2408=)
c.1520T= (p.Val507=)
Xg.31774156A>CCA412659127DMDc.2192T>G (p.Val731Gly)
c.-35T>G (n.-35T>G)
n.1007T>G
n.929T>G
n.838T>G
c.7346T>G (p.Val2449Gly)
c.3314T>G (p.Val1105Gly)
c.335T>G (p.Val112Gly)
c.434T>G (p.Val145Gly)
c.7334T>G (p.Val2445Gly)
c.103T>G (n.103T>G)
c.7331T>G (p.Val2444Gly)
c.7343T>G (p.Val2448Gly)
c.7322T>G (p.Val2441Gly)
c.6977T>G (p.Val2326Gly)
c.3323T>G (p.Val1108Gly)
c.7217T>G (p.Val2406Gly)
c.7208T>G (p.Val2403Gly)
c.7223T>G (p.Val2408Gly)
c.1520T>G (p.Val507Gly)
Xg.31774156A>GCA412659128DMDc.2192T>C (p.Val731Ala)
c.-35T>C (n.-35T>C)
n.1007T>C
n.929T>C
n.838T>C
c.7346T>C (p.Val2449Ala)
c.3314T>C (p.Val1105Ala)
c.335T>C (p.Val112Ala)
c.434T>C (p.Val145Ala)
c.7334T>C (p.Val2445Ala)
c.103T>C (n.103T>C)
c.7331T>C (p.Val2444Ala)
c.7343T>C (p.Val2448Ala)
c.7322T>C (p.Val2441Ala)
c.6977T>C (p.Val2326Ala)
c.3323T>C (p.Val1108Ala)
c.7217T>C (p.Val2406Ala)
c.7208T>C (p.Val2403Ala)
c.7223T>C (p.Val2408Ala)
c.1520T>C (p.Val507Ala)
 gnomAD v4
Xg.31774156A>TCA412659129DMDc.2192T>A (p.Val731Glu)
c.-35T>A (n.-35T>A)
n.1007T>A
n.929T>A
n.838T>A
c.7346T>A (p.Val2449Glu)
c.3314T>A (p.Val1105Glu)
c.335T>A (p.Val112Glu)
c.434T>A (p.Val145Glu)
c.7334T>A (p.Val2445Glu)
c.103T>A (n.103T>A)
c.7331T>A (p.Val2444Glu)
c.7343T>A (p.Val2448Glu)
c.7322T>A (p.Val2441Glu)
c.6977T>A (p.Val2326Glu)
c.3323T>A (p.Val1108Glu)
c.7217T>A (p.Val2406Glu)
c.7208T>A (p.Val2403Glu)
c.7223T>A (p.Val2408Glu)
c.1520T>A (p.Val507Glu)
 dbSNP

Number of alleles fetched