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.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
Xg.31774157C>ACA412659130DMDc.2191G>T (p.Val731Leu)
c.-36G>T (n.-36G>T)
n.1006G>T
n.928G>T
n.837G>T
c.7345G>T (p.Val2449Leu)
c.3313G>T (p.Val1105Leu)
c.334G>T (p.Val112Leu)
c.433G>T (p.Val145Leu)
c.7333G>T (p.Val2445Leu)
c.102G>T (n.102G>T)
c.7330G>T (p.Val2444Leu)
c.7342G>T (p.Val2448Leu)
c.7321G>T (p.Val2441Leu)
c.6976G>T (p.Val2326Leu)
c.3322G>T (p.Val1108Leu)
c.7216G>T (p.Val2406Leu)
c.7207G>T (p.Val2403Leu)
c.7222G>T (p.Val2408Leu)
c.1519G>T (p.Val507Leu)
Xg.31774157C=CA2422548670DMDc.2191G= (p.Val731=)
c.-36G= (n.-36G=)
n.1006G=
n.928G=
n.837G=
c.7345G= (p.Val2449=)
c.3313G= (p.Val1105=)
c.334G= (p.Val112=)
c.433G= (p.Val145=)
c.7333G= (p.Val2445=)
c.102G= (n.102G=)
c.7330G= (p.Val2444=)
c.7342G= (p.Val2448=)
c.7321G= (p.Val2441=)
c.6976G= (p.Val2326=)
c.3322G= (p.Val1108=)
c.7216G= (p.Val2406=)
c.7207G= (p.Val2403=)
c.7222G= (p.Val2408=)
c.1519G= (p.Val507=)
Xg.31774157C>GCA328470495DMDc.2191G>C (p.Val731Leu)
c.-36G>C (n.-36G>C)
n.1006G>C
n.928G>C
n.837G>C
c.7345G>C (p.Val2449Leu)
c.3313G>C (p.Val1105Leu)
c.334G>C (p.Val112Leu)
c.433G>C (p.Val145Leu)
c.7333G>C (p.Val2445Leu)
c.102G>C (n.102G>C)
c.7330G>C (p.Val2444Leu)
c.7342G>C (p.Val2448Leu)
c.7321G>C (p.Val2441Leu)
c.6976G>C (p.Val2326Leu)
c.3322G>C (p.Val1108Leu)
c.7216G>C (p.Val2406Leu)
c.7207G>C (p.Val2403Leu)
c.7222G>C (p.Val2408Leu)
c.1519G>C (p.Val507Leu)
 dbSNP
Xg.31774157C>TCA412659131DMDc.2191G>A (p.Val731Met)
c.-36G>A (n.-36G>A)
n.1006G>A
n.928G>A
n.837G>A
c.7345G>A (p.Val2449Met)
c.3313G>A (p.Val1105Met)
c.334G>A (p.Val112Met)
c.433G>A (p.Val145Met)
c.7333G>A (p.Val2445Met)
c.102G>A (n.102G>A)
c.7330G>A (p.Val2444Met)
c.7342G>A (p.Val2448Met)
c.7321G>A (p.Val2441Met)
c.6976G>A (p.Val2326Met)
c.3322G>A (p.Val1108Met)
c.7216G>A (p.Val2406Met)
c.7207G>A (p.Val2403Met)
c.7222G>A (p.Val2408Met)
c.1519G>A (p.Val507Met)
 gnomAD v4
Xg.31774158A>CCA515859416DMDc.2190T>G (p.Pro730=)
c.-37T>G (n.-37T>G)
n.1005T>G
n.927T>G
n.836T>G
c.7344T>G (p.Pro2448=)
c.3312T>G (p.Pro1104=)
c.333T>G (p.Pro111=)
c.432T>G (p.Pro144=)
c.7332T>G (p.Pro2444=)
c.101T>G (n.101T>G)
c.7329T>G (p.Pro2443=)
c.7341T>G (p.Pro2447=)
c.7320T>G (p.Pro2440=)
c.6975T>G (p.Pro2325=)
c.3321T>G (p.Pro1107=)
c.7215T>G (p.Pro2405=)
c.7206T>G (p.Pro2402=)
c.7221T>G (p.Pro2407=)
c.1518T>G (p.Pro506=)
Xg.31774158A>GCA515859415DMDc.2190T>C (p.Pro730=)
c.-37T>C (n.-37T>C)
n.1005T>C
n.927T>C
n.836T>C
c.7344T>C (p.Pro2448=)
c.3312T>C (p.Pro1104=)
c.333T>C (p.Pro111=)
c.432T>C (p.Pro144=)
c.7332T>C (p.Pro2444=)
c.101T>C (n.101T>C)
c.7329T>C (p.Pro2443=)
c.7341T>C (p.Pro2447=)
c.7320T>C (p.Pro2440=)
c.6975T>C (p.Pro2325=)
c.3321T>C (p.Pro1107=)
c.7215T>C (p.Pro2405=)
c.7206T>C (p.Pro2402=)
c.7221T>C (p.Pro2407=)
c.1518T>C (p.Pro506=)
 ClinVar
Xg.31774158A>TCA515859414DMDc.2190T>A (p.Pro730=)
c.-37T>A (n.-37T>A)
n.1005T>A
n.927T>A
n.836T>A
c.7344T>A (p.Pro2448=)
c.3312T>A (p.Pro1104=)
c.333T>A (p.Pro111=)
c.432T>A (p.Pro144=)
c.7332T>A (p.Pro2444=)
c.101T>A (n.101T>A)
c.7329T>A (p.Pro2443=)
c.7341T>A (p.Pro2447=)
c.7320T>A (p.Pro2440=)
c.6975T>A (p.Pro2325=)
c.3321T>A (p.Pro1107=)
c.7215T>A (p.Pro2405=)
c.7206T>A (p.Pro2402=)
c.7221T>A (p.Pro2407=)
c.1518T>A (p.Pro506=)
Xg.31774159G>ACA412659132DMDc.2189C>T (p.Pro730Leu)
c.-38C>T (n.-38C>T)
n.1004C>T
n.926C>T
n.835C>T
c.7343C>T (p.Pro2448Leu)
c.3311C>T (p.Pro1104Leu)
c.332C>T (p.Pro111Leu)
c.431C>T (p.Pro144Leu)
c.7331C>T (p.Pro2444Leu)
c.100C>T (n.100C>T)
c.7328C>T (p.Pro2443Leu)
c.7340C>T (p.Pro2447Leu)
c.7319C>T (p.Pro2440Leu)
c.6974C>T (p.Pro2325Leu)
c.3320C>T (p.Pro1107Leu)
c.7214C>T (p.Pro2405Leu)
c.7205C>T (p.Pro2402Leu)
c.7220C>T (p.Pro2407Leu)
c.1517C>T (p.Pro506Leu)
Xg.31774159G>CCA412659133DMDc.2189C>G (p.Pro730Arg)
c.-38C>G (n.-38C>G)
n.1004C>G
n.926C>G
n.835C>G
c.7343C>G (p.Pro2448Arg)
c.3311C>G (p.Pro1104Arg)
c.332C>G (p.Pro111Arg)
c.431C>G (p.Pro144Arg)
c.7331C>G (p.Pro2444Arg)
c.100C>G (n.100C>G)
c.7328C>G (p.Pro2443Arg)
c.7340C>G (p.Pro2447Arg)
c.7319C>G (p.Pro2440Arg)
c.6974C>G (p.Pro2325Arg)
c.3320C>G (p.Pro1107Arg)
c.7214C>G (p.Pro2405Arg)
c.7205C>G (p.Pro2402Arg)
c.7220C>G (p.Pro2407Arg)
c.1517C>G (p.Pro506Arg)
Xg.31774159G>TCA412659134DMDc.2189C>A (p.Pro730His)
c.-38C>A (n.-38C>A)
n.1004C>A
n.926C>A
n.835C>A
c.7343C>A (p.Pro2448His)
c.3311C>A (p.Pro1104His)
c.332C>A (p.Pro111His)
c.431C>A (p.Pro144His)
c.7331C>A (p.Pro2444His)
c.100C>A (n.100C>A)
c.7328C>A (p.Pro2443His)
c.7340C>A (p.Pro2447His)
c.7319C>A (p.Pro2440His)
c.6974C>A (p.Pro2325His)
c.3320C>A (p.Pro1107His)
c.7214C>A (p.Pro2405His)
c.7205C>A (p.Pro2402His)
c.7220C>A (p.Pro2407His)
c.1517C>A (p.Pro506His)
Xg.31774160G>ACA412659135DMDc.2188C>T (p.Pro730Ser)
c.-39C>T (n.-39C>T)
n.1003C>T
n.925C>T
n.834C>T
c.7342C>T (p.Pro2448Ser)
c.3310C>T (p.Pro1104Ser)
c.331C>T (p.Pro111Ser)
c.430C>T (p.Pro144Ser)
c.7330C>T (p.Pro2444Ser)
c.99C>T (n.99C>T)
c.7327C>T (p.Pro2443Ser)
c.7339C>T (p.Pro2447Ser)
c.7318C>T (p.Pro2440Ser)
c.6973C>T (p.Pro2325Ser)
c.3319C>T (p.Pro1107Ser)
c.7213C>T (p.Pro2405Ser)
c.7204C>T (p.Pro2402Ser)
c.7219C>T (p.Pro2407Ser)
c.1516C>T (p.Pro506Ser)
Xg.31774160G>CCA412659137DMDc.2188C>G (p.Pro730Ala)
c.-39C>G (n.-39C>G)
n.1003C>G
n.925C>G
n.834C>G
c.7342C>G (p.Pro2448Ala)
c.3310C>G (p.Pro1104Ala)
c.331C>G (p.Pro111Ala)
c.430C>G (p.Pro144Ala)
c.7330C>G (p.Pro2444Ala)
c.99C>G (n.99C>G)
c.7327C>G (p.Pro2443Ala)
c.7339C>G (p.Pro2447Ala)
c.7318C>G (p.Pro2440Ala)
c.6973C>G (p.Pro2325Ala)
c.3319C>G (p.Pro1107Ala)
c.7213C>G (p.Pro2405Ala)
c.7204C>G (p.Pro2402Ala)
c.7219C>G (p.Pro2407Ala)
c.1516C>G (p.Pro506Ala)
Xg.31774160G>TCA412659136DMDc.2188C>A (p.Pro730Thr)
c.-39C>A (n.-39C>A)
n.1003C>A
n.925C>A
n.834C>A
c.7342C>A (p.Pro2448Thr)
c.3310C>A (p.Pro1104Thr)
c.331C>A (p.Pro111Thr)
c.430C>A (p.Pro144Thr)
c.7330C>A (p.Pro2444Thr)
c.99C>A (n.99C>A)
c.7327C>A (p.Pro2443Thr)
c.7339C>A (p.Pro2447Thr)
c.7318C>A (p.Pro2440Thr)
c.6973C>A (p.Pro2325Thr)
c.3319C>A (p.Pro1107Thr)
c.7213C>A (p.Pro2405Thr)
c.7204C>A (p.Pro2402Thr)
c.7219C>A (p.Pro2407Thr)
c.1516C>A (p.Pro506Thr)
Xg.31774161T>ACA412659138DMDc.2187A>T (p.Gln729His)
c.-40A>T (n.-40A>T)
n.1002A>T
n.924A>T
n.833A>T
c.7341A>T (p.Gln2447His)
c.3309A>T (p.Gln1103His)
c.330A>T (p.Gln110His)
c.429A>T (p.Gln143His)
c.7329A>T (p.Gln2443His)
c.98A>T (n.98A>T)
c.7326A>T (p.Gln2442His)
c.7338A>T (p.Gln2446His)
c.7317A>T (p.Gln2439His)
c.6972A>T (p.Gln2324His)
c.3318A>T (p.Gln1106His)
c.7212A>T (p.Gln2404His)
c.7203A>T (p.Gln2401His)
c.7218A>T (p.Gln2406His)
c.1515A>T (p.Gln505His)
Xg.31774161T>CCA10378285DMDc.2187A>G (p.Gln729=)
c.-40A>G (n.-40A>G)
n.1002A>G
n.924A>G
n.833A>G
c.7341A>G (p.Gln2447=)
c.3309A>G (p.Gln1103=)
c.330A>G (p.Gln110=)
c.429A>G (p.Gln143=)
c.7329A>G (p.Gln2443=)
c.98A>G (n.98A>G)
c.7326A>G (p.Gln2442=)
c.7338A>G (p.Gln2446=)
c.7317A>G (p.Gln2439=)
c.6972A>G (p.Gln2324=)
c.3318A>G (p.Gln1106=)
c.7212A>G (p.Gln2404=)
c.7203A>G (p.Gln2401=)
c.7218A>G (p.Gln2406=)
c.1515A>G (p.Gln505=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774161T>GCA412659139DMDc.2187A>C (p.Gln729His)
c.-40A>C (n.-40A>C)
n.1002A>C
n.924A>C
n.833A>C
c.7341A>C (p.Gln2447His)
c.3309A>C (p.Gln1103His)
c.330A>C (p.Gln110His)
c.429A>C (p.Gln143His)
c.7329A>C (p.Gln2443His)
c.98A>C (n.98A>C)
c.7326A>C (p.Gln2442His)
c.7338A>C (p.Gln2446His)
c.7317A>C (p.Gln2439His)
c.6972A>C (p.Gln2324His)
c.3318A>C (p.Gln1106His)
c.7212A>C (p.Gln2404His)
c.7203A>C (p.Gln2401His)
c.7218A>C (p.Gln2406His)
c.1515A>C (p.Gln505His)
Xg.31774161T=CA2422548671DMDc.2187A= (p.Gln729=)
c.-40A= (n.-40A=)
n.1002A=
n.924A=
n.833A=
c.7341A= (p.Gln2447=)
c.3309A= (p.Gln1103=)
c.330A= (p.Gln110=)
c.429A= (p.Gln143=)
c.7329A= (p.Gln2443=)
c.98A= (n.98A=)
c.7326A= (p.Gln2442=)
c.7338A= (p.Gln2446=)
c.7317A= (p.Gln2439=)
c.6972A= (p.Gln2324=)
c.3318A= (p.Gln1106=)
c.7212A= (p.Gln2404=)
c.7203A= (p.Gln2401=)
c.7218A= (p.Gln2406=)
c.1515A= (p.Gln505=)
Xg.31774162delCA2695232466DMDc.2187del (p.Gln729HisfsTer13)
c.-40del (n.-40del)
n.1002del
n.924del
n.833del
c.7341del (p.Gln2447HisfsTer13)
c.3309del (p.Gln1103HisfsTer13)
c.330del (p.Gln110HisfsTer13)
c.429del (p.Gln143HisfsTer13)
c.7329del (p.Gln2443HisfsTer13)
c.98del (n.98del)
c.7326del (p.Gln2442HisfsTer13)
c.7338del (p.Gln2446HisfsTer13)
c.7317del (p.Gln2439HisfsTer13)
c.6972del (p.Gln2324HisfsTer13)
c.3318del (p.Gln1106HisfsTer13)
c.7212del (p.Gln2404HisfsTer13)
c.7203del (p.Gln2401HisfsTer13)
c.7218del (p.Gln2406HisfsTer13)
c.1515del (p.Gln505HisfsTer13)
Xg.31774162T>ACA412659140DMDc.2186A>T (p.Gln729Leu)
c.-41A>T (n.-41A>T)
n.1001A>T
n.923A>T
n.832A>T
c.7340A>T (p.Gln2447Leu)
c.3308A>T (p.Gln1103Leu)
c.329A>T (p.Gln110Leu)
c.428A>T (p.Gln143Leu)
c.7328A>T (p.Gln2443Leu)
c.97A>T (n.97A>T)
c.7325A>T (p.Gln2442Leu)
c.7337A>T (p.Gln2446Leu)
c.7316A>T (p.Gln2439Leu)
c.6971A>T (p.Gln2324Leu)
c.3317A>T (p.Gln1106Leu)
c.7211A>T (p.Gln2404Leu)
c.7202A>T (p.Gln2401Leu)
c.7217A>T (p.Gln2406Leu)
c.1514A>T (p.Gln505Leu)
Xg.31774162T>CCA412659141DMDc.2186A>G (p.Gln729Arg)
c.-41A>G (n.-41A>G)
n.1001A>G
n.923A>G
n.832A>G
c.7340A>G (p.Gln2447Arg)
c.3308A>G (p.Gln1103Arg)
c.329A>G (p.Gln110Arg)
c.428A>G (p.Gln143Arg)
c.7328A>G (p.Gln2443Arg)
c.97A>G (n.97A>G)
c.7325A>G (p.Gln2442Arg)
c.7337A>G (p.Gln2446Arg)
c.7316A>G (p.Gln2439Arg)
c.6971A>G (p.Gln2324Arg)
c.3317A>G (p.Gln1106Arg)
c.7211A>G (p.Gln2404Arg)
c.7202A>G (p.Gln2401Arg)
c.7217A>G (p.Gln2406Arg)
c.1514A>G (p.Gln505Arg)
Xg.31774162T>GCA412659142DMDc.2186A>C (p.Gln729Pro)
c.-41A>C (n.-41A>C)
n.1001A>C
n.923A>C
n.832A>C
c.7340A>C (p.Gln2447Pro)
c.3308A>C (p.Gln1103Pro)
c.329A>C (p.Gln110Pro)
c.428A>C (p.Gln143Pro)
c.7328A>C (p.Gln2443Pro)
c.97A>C (n.97A>C)
c.7325A>C (p.Gln2442Pro)
c.7337A>C (p.Gln2446Pro)
c.7316A>C (p.Gln2439Pro)
c.6971A>C (p.Gln2324Pro)
c.3317A>C (p.Gln1106Pro)
c.7211A>C (p.Gln2404Pro)
c.7202A>C (p.Gln2401Pro)
c.7217A>C (p.Gln2406Pro)
c.1514A>C (p.Gln505Pro)
Xg.31774163G>ACA412659143DMDc.2185C>T (p.Gln729Ter)
c.-42C>T (n.-42C>T)
n.1000C>T
n.922C>T
n.831C>T
c.7339C>T (p.Gln2447Ter)
c.3307C>T (p.Gln1103Ter)
c.328C>T (p.Gln110Ter)
c.427C>T (p.Gln143Ter)
c.7327C>T (p.Gln2443Ter)
c.96C>T (n.96C>T)
c.7324C>T (p.Gln2442Ter)
c.7336C>T (p.Gln2446Ter)
c.7315C>T (p.Gln2439Ter)
c.6970C>T (p.Gln2324Ter)
c.3316C>T (p.Gln1106Ter)
c.7210C>T (p.Gln2404Ter)
c.7201C>T (p.Gln2401Ter)
c.7216C>T (p.Gln2406Ter)
c.1513C>T (p.Gln505Ter)
 dbSNP
Xg.31774163G>CCA412659144DMDc.2185C>G (p.Gln729Glu)
c.-42C>G (n.-42C>G)
n.1000C>G
n.922C>G
n.831C>G
c.7339C>G (p.Gln2447Glu)
c.3307C>G (p.Gln1103Glu)
c.328C>G (p.Gln110Glu)
c.427C>G (p.Gln143Glu)
c.7327C>G (p.Gln2443Glu)
c.96C>G (n.96C>G)
c.7324C>G (p.Gln2442Glu)
c.7336C>G (p.Gln2446Glu)
c.7315C>G (p.Gln2439Glu)
c.6970C>G (p.Gln2324Glu)
c.3316C>G (p.Gln1106Glu)
c.7210C>G (p.Gln2404Glu)
c.7201C>G (p.Gln2401Glu)
c.7216C>G (p.Gln2406Glu)
c.1513C>G (p.Gln505Glu)
Xg.31774163G>TCA412659145DMDc.2185C>A (p.Gln729Lys)
c.-42C>A (n.-42C>A)
n.1000C>A
n.922C>A
n.831C>A
c.7339C>A (p.Gln2447Lys)
c.3307C>A (p.Gln1103Lys)
c.328C>A (p.Gln110Lys)
c.427C>A (p.Gln143Lys)
c.7327C>A (p.Gln2443Lys)
c.96C>A (n.96C>A)
c.7324C>A (p.Gln2442Lys)
c.7336C>A (p.Gln2446Lys)
c.7315C>A (p.Gln2439Lys)
c.6970C>A (p.Gln2324Lys)
c.3316C>A (p.Gln1106Lys)
c.7210C>A (p.Gln2404Lys)
c.7201C>A (p.Gln2401Lys)
c.7216C>A (p.Gln2406Lys)
c.1513C>A (p.Gln505Lys)
 gnomAD v4
Xg.31774164T>ACA515859417DMDc.2184A>T (p.Thr728=)
c.-43A>T (n.-43A>T)
n.999A>T
n.921A>T
n.830A>T
c.7338A>T (p.Thr2446=)
c.3306A>T (p.Thr1102=)
c.327A>T (p.Thr109=)
c.426A>T (p.Thr142=)
c.7326A>T (p.Thr2442=)
c.95A>T (n.95A>T)
c.7323A>T (p.Thr2441=)
c.7335A>T (p.Thr2445=)
c.7314A>T (p.Thr2438=)
c.6969A>T (p.Thr2323=)
c.3315A>T (p.Thr1105=)
c.7209A>T (p.Thr2403=)
c.7200A>T (p.Thr2400=)
c.7215A>T (p.Thr2405=)
c.1512A>T (p.Thr504=)
Xg.31774164T>CCA10378286DMDc.2184A>G (p.Thr728=)
c.-43A>G (n.-43A>G)
n.999A>G
n.921A>G
n.830A>G
c.7338A>G (p.Thr2446=)
c.3306A>G (p.Thr1102=)
c.327A>G (p.Thr109=)
c.426A>G (p.Thr142=)
c.7326A>G (p.Thr2442=)
c.95A>G (n.95A>G)
c.7323A>G (p.Thr2441=)
c.7335A>G (p.Thr2445=)
c.7314A>G (p.Thr2438=)
c.6969A>G (p.Thr2323=)
c.3315A>G (p.Thr1105=)
c.7209A>G (p.Thr2403=)
c.7200A>G (p.Thr2400=)
c.7215A>G (p.Thr2405=)
c.1512A>G (p.Thr504=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774164T>GCA515859418DMDc.2184A>C (p.Thr728=)
c.-43A>C (n.-43A>C)
n.999A>C
n.921A>C
n.830A>C
c.7338A>C (p.Thr2446=)
c.3306A>C (p.Thr1102=)
c.327A>C (p.Thr109=)
c.426A>C (p.Thr142=)
c.7326A>C (p.Thr2442=)
c.95A>C (n.95A>C)
c.7323A>C (p.Thr2441=)
c.7335A>C (p.Thr2445=)
c.7314A>C (p.Thr2438=)
c.6969A>C (p.Thr2323=)
c.3315A>C (p.Thr1105=)
c.7209A>C (p.Thr2403=)
c.7200A>C (p.Thr2400=)
c.7215A>C (p.Thr2405=)
c.1512A>C (p.Thr504=)
Xg.31774164T=CA2422548672DMDc.2184A= (p.Thr728=)
c.-43A= (n.-43A=)
n.999A=
n.921A=
n.830A=
c.7338A= (p.Thr2446=)
c.3306A= (p.Thr1102=)
c.327A= (p.Thr109=)
c.426A= (p.Thr142=)
c.7326A= (p.Thr2442=)
c.95A= (n.95A=)
c.7323A= (p.Thr2441=)
c.7335A= (p.Thr2445=)
c.7314A= (p.Thr2438=)
c.6969A= (p.Thr2323=)
c.3315A= (p.Thr1105=)
c.7209A= (p.Thr2403=)
c.7200A= (p.Thr2400=)
c.7215A= (p.Thr2405=)
c.1512A= (p.Thr504=)
Xg.31774165G>ACA412659147DMDc.2183C>T (p.Thr728Ile)
c.-44C>T (n.-44C>T)
n.998C>T
n.920C>T
n.829C>T
c.7337C>T (p.Thr2446Ile)
c.3305C>T (p.Thr1102Ile)
c.326C>T (p.Thr109Ile)
c.425C>T (p.Thr142Ile)
c.7325C>T (p.Thr2442Ile)
c.94C>T (n.94C>T)
c.7322C>T (p.Thr2441Ile)
c.7334C>T (p.Thr2445Ile)
c.7313C>T (p.Thr2438Ile)
c.6968C>T (p.Thr2323Ile)
c.3314C>T (p.Thr1105Ile)
c.7208C>T (p.Thr2403Ile)
c.7199C>T (p.Thr2400Ile)
c.7214C>T (p.Thr2405Ile)
c.1511C>T (p.Thr504Ile)
Xg.31774165G>CCA412659148DMDc.2183C>G (p.Thr728Arg)
c.-44C>G (n.-44C>G)
n.998C>G
n.920C>G
n.829C>G
c.7337C>G (p.Thr2446Arg)
c.3305C>G (p.Thr1102Arg)
c.326C>G (p.Thr109Arg)
c.425C>G (p.Thr142Arg)
c.7325C>G (p.Thr2442Arg)
c.94C>G (n.94C>G)
c.7322C>G (p.Thr2441Arg)
c.7334C>G (p.Thr2445Arg)
c.7313C>G (p.Thr2438Arg)
c.6968C>G (p.Thr2323Arg)
c.3314C>G (p.Thr1105Arg)
c.7208C>G (p.Thr2403Arg)
c.7199C>G (p.Thr2400Arg)
c.7214C>G (p.Thr2405Arg)
c.1511C>G (p.Thr504Arg)
Xg.31774165G>TCA412659146DMDc.2183C>A (p.Thr728Lys)
c.-44C>A (n.-44C>A)
n.998C>A
n.920C>A
n.829C>A
c.7337C>A (p.Thr2446Lys)
c.3305C>A (p.Thr1102Lys)
c.326C>A (p.Thr109Lys)
c.425C>A (p.Thr142Lys)
c.7325C>A (p.Thr2442Lys)
c.94C>A (n.94C>A)
c.7322C>A (p.Thr2441Lys)
c.7334C>A (p.Thr2445Lys)
c.7313C>A (p.Thr2438Lys)
c.6968C>A (p.Thr2323Lys)
c.3314C>A (p.Thr1105Lys)
c.7208C>A (p.Thr2403Lys)
c.7199C>A (p.Thr2400Lys)
c.7214C>A (p.Thr2405Lys)
c.1511C>A (p.Thr504Lys)
 gnomAD v4
Xg.31774166T>ACA412659149DMDc.2182A>T (p.Thr728Ser)
c.-45A>T (n.-45A>T)
n.997A>T
n.919A>T
n.828A>T
c.7336A>T (p.Thr2446Ser)
c.3304A>T (p.Thr1102Ser)
c.325A>T (p.Thr109Ser)
c.424A>T (p.Thr142Ser)
c.7324A>T (p.Thr2442Ser)
c.93A>T (p.Ter31Cys)
c.7321A>T (p.Thr2441Ser)
c.7333A>T (p.Thr2445Ser)
c.7312A>T (p.Thr2438Ser)
c.6967A>T (p.Thr2323Ser)
c.3313A>T (p.Thr1105Ser)
c.7207A>T (p.Thr2403Ser)
c.7198A>T (p.Thr2400Ser)
c.7213A>T (p.Thr2405Ser)
c.1510A>T (p.Thr504Ser)
Xg.31774166T>CCA412659150DMDc.2182A>G (p.Thr728Ala)
c.-45A>G (n.-45A>G)
n.997A>G
n.919A>G
n.828A>G
c.7336A>G (p.Thr2446Ala)
c.3304A>G (p.Thr1102Ala)
c.325A>G (p.Thr109Ala)
c.424A>G (p.Thr142Ala)
c.7324A>G (p.Thr2442Ala)
c.93A>G (p.Ter31Trp)
c.7321A>G (p.Thr2441Ala)
c.7333A>G (p.Thr2445Ala)
c.7312A>G (p.Thr2438Ala)
c.6967A>G (p.Thr2323Ala)
c.3313A>G (p.Thr1105Ala)
c.7207A>G (p.Thr2403Ala)
c.7198A>G (p.Thr2400Ala)
c.7213A>G (p.Thr2405Ala)
c.1510A>G (p.Thr504Ala)
 gnomAD v4
Xg.31774166T>GCA412659151DMDc.2182A>C (p.Thr728Pro)
c.-45A>C (n.-45A>C)
n.997A>C
n.919A>C
n.828A>C
c.7336A>C (p.Thr2446Pro)
c.3304A>C (p.Thr1102Pro)
c.325A>C (p.Thr109Pro)
c.424A>C (p.Thr142Pro)
c.7324A>C (p.Thr2442Pro)
c.93A>C (p.Ter31Cys)
c.7321A>C (p.Thr2441Pro)
c.7333A>C (p.Thr2445Pro)
c.7312A>C (p.Thr2438Pro)
c.6967A>C (p.Thr2323Pro)
c.3313A>C (p.Thr1105Pro)
c.7207A>C (p.Thr2403Pro)
c.7198A>C (p.Thr2400Pro)
c.7213A>C (p.Thr2405Pro)
c.1510A>C (p.Thr504Pro)
Xg.31774167C>ACA515859419DMDc.2181G>T (p.Val727=)
c.-46G>T (n.-46G>T)
n.996G>T
n.918G>T
n.827G>T
c.7335G>T (p.Val2445=)
c.3303G>T (p.Val1101=)
c.324G>T (p.Val108=)
c.423G>T (p.Val141=)
c.7323G>T (p.Val2441=)
c.92G>T (p.Ter31Leu)
c.7320G>T (p.Val2440=)
c.7332G>T (p.Val2444=)
c.7311G>T (p.Val2437=)
c.6966G>T (p.Val2322=)
c.3312G>T (p.Val1104=)
c.7206G>T (p.Val2402=)
c.7197G>T (p.Val2399=)
c.7212G>T (p.Val2404=)
c.1509G>T (p.Val503=)
Xg.31774167C=CA2422548673DMDc.2181G= (p.Val727=)
c.-46G= (n.-46G=)
n.996G=
n.918G=
n.827G=
c.7335G= (p.Val2445=)
c.3303G= (p.Val1101=)
c.324G= (p.Val108=)
c.423G= (p.Val141=)
c.7323G= (p.Val2441=)
c.92G= (p.Ter31=)
c.7320G= (p.Val2440=)
c.7332G= (p.Val2444=)
c.7311G= (p.Val2437=)
c.6966G= (p.Val2322=)
c.3312G= (p.Val1104=)
c.7206G= (p.Val2402=)
c.7197G= (p.Val2399=)
c.7212G= (p.Val2404=)
c.1509G= (p.Val503=)
Xg.31774167C>GCA515859420DMDc.2181G>C (p.Val727=)
c.-46G>C (n.-46G>C)
n.996G>C
n.918G>C
n.827G>C
c.7335G>C (p.Val2445=)
c.3303G>C (p.Val1101=)
c.324G>C (p.Val108=)
c.423G>C (p.Val141=)
c.7323G>C (p.Val2441=)
c.92G>C (p.Ter31Ser)
c.7320G>C (p.Val2440=)
c.7332G>C (p.Val2444=)
c.7311G>C (p.Val2437=)
c.6966G>C (p.Val2322=)
c.3312G>C (p.Val1104=)
c.7206G>C (p.Val2402=)
c.7197G>C (p.Val2399=)
c.7212G>C (p.Val2404=)
c.1509G>C (p.Val503=)
Xg.31774167C>TCA515859421DMDc.2181G>A (p.Val727=)
c.-46G>A (n.-46G>A)
n.996G>A
n.918G>A
n.827G>A
c.7335G>A (p.Val2445=)
c.3303G>A (p.Val1101=)
c.324G>A (p.Val108=)
c.423G>A (p.Val141=)
c.7323G>A (p.Val2441=)
c.92G>A (p.Ter31=)
c.7320G>A (p.Val2440=)
c.7332G>A (p.Val2444=)
c.7311G>A (p.Val2437=)
c.6966G>A (p.Val2322=)
c.3312G>A (p.Val1104=)
c.7206G>A (p.Val2402=)
c.7197G>A (p.Val2399=)
c.7212G>A (p.Val2404=)
c.1509G>A (p.Val503=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774168_31774169delCA2579579131DMDc.2180_2181del (p.Val727AspfsTer7)
c.-47_-46del (n.-47_-46del)
n.995_996del
n.917_918del
n.826_827del
c.7334_7335del (p.Val2445AspfsTer7)
c.3302_3303del (p.Val1101AspfsTer7)
c.323_324del (p.Val108AspfsTer7)
c.422_423del (p.Val141AspfsTer7)
c.7322_7323del (p.Val2441AspfsTer7)
c.91_92del (p.Ter31ThrextTer?)
c.7319_7320del (p.Val2440AspfsTer7)
c.7331_7332del (p.Val2444AspfsTer7)
c.7310_7311del (p.Val2437AspfsTer7)
c.6965_6966del (p.Val2322AspfsTer7)
c.3311_3312del (p.Val1104AspfsTer7)
c.7205_7206del (p.Val2402AspfsTer7)
c.7196_7197del (p.Val2399AspfsTer7)
c.7211_7212del (p.Val2404AspfsTer7)
c.1508_1509del (p.Val503AspfsTer7)
Xg.31774168delCA2580100613DMDc.2180del (p.Val727GlyfsTer15)
c.-47del (n.-47del)
n.995del
n.917del
n.826del
c.7334del (p.Val2445GlyfsTer15)
c.3302del (p.Val1101GlyfsTer15)
c.323del (p.Val108GlyfsTer15)
c.422del (p.Val141GlyfsTer15)
c.7322del (p.Val2441GlyfsTer15)
c.91del (p.Ter31AspextTer7)
c.7319del (p.Val2440GlyfsTer15)
c.7331del (p.Val2444GlyfsTer15)
c.7310del (p.Val2437GlyfsTer15)
c.6965del (p.Val2322GlyfsTer15)
c.3311del (p.Val1104GlyfsTer15)
c.7205del (p.Val2402GlyfsTer15)
c.7196del (p.Val2399GlyfsTer15)
c.7211del (p.Val2404GlyfsTer15)
c.1508del (p.Val503GlyfsTer15)
 ClinVar
Xg.31774168A>CCA412659152DMDc.2180T>G (p.Val727Gly)
c.-47T>G (n.-47T>G)
n.995T>G
n.917T>G
n.826T>G
c.7334T>G (p.Val2445Gly)
c.3302T>G (p.Val1101Gly)
c.323T>G (p.Val108Gly)
c.422T>G (p.Val141Gly)
c.7322T>G (p.Val2441Gly)
c.91T>G (p.Ter31Gly)
c.7319T>G (p.Val2440Gly)
c.7331T>G (p.Val2444Gly)
c.7310T>G (p.Val2437Gly)
c.6965T>G (p.Val2322Gly)
c.3311T>G (p.Val1104Gly)
c.7205T>G (p.Val2402Gly)
c.7196T>G (p.Val2399Gly)
c.7211T>G (p.Val2404Gly)
c.1508T>G (p.Val503Gly)
Xg.31774168A>GCA412659153DMDc.2180T>C (p.Val727Ala)
c.-47T>C (n.-47T>C)
n.995T>C
n.917T>C
n.826T>C
c.7334T>C (p.Val2445Ala)
c.3302T>C (p.Val1101Ala)
c.323T>C (p.Val108Ala)
c.422T>C (p.Val141Ala)
c.7322T>C (p.Val2441Ala)
c.91T>C (p.Ter31Arg)
c.7319T>C (p.Val2440Ala)
c.7331T>C (p.Val2444Ala)
c.7310T>C (p.Val2437Ala)
c.6965T>C (p.Val2322Ala)
c.3311T>C (p.Val1104Ala)
c.7205T>C (p.Val2402Ala)
c.7196T>C (p.Val2399Ala)
c.7211T>C (p.Val2404Ala)
c.1508T>C (p.Val503Ala)
Xg.31774168A>TCA412659154DMDc.2180T>A (p.Val727Glu)
c.-47T>A (n.-47T>A)
n.995T>A
n.917T>A
n.826T>A
c.7334T>A (p.Val2445Glu)
c.3302T>A (p.Val1101Glu)
c.323T>A (p.Val108Glu)
c.422T>A (p.Val141Glu)
c.7322T>A (p.Val2441Glu)
c.91T>A (p.Ter31Arg)
c.7319T>A (p.Val2440Glu)
c.7331T>A (p.Val2444Glu)
c.7310T>A (p.Val2437Glu)
c.6965T>A (p.Val2322Glu)
c.3311T>A (p.Val1104Glu)
c.7205T>A (p.Val2402Glu)
c.7196T>A (p.Val2399Glu)
c.7211T>A (p.Val2404Glu)
c.1508T>A (p.Val503Glu)
Xg.31774169C>ACA412659157DMDc.2179G>T (p.Val727Leu)
c.-48G>T (n.-48G>T)
n.994G>T
n.916G>T
n.825G>T
c.7333G>T (p.Val2445Leu)
c.3301G>T (p.Val1101Leu)
c.322G>T (p.Val108Leu)
c.421G>T (p.Val141Leu)
c.7321G>T (p.Val2441Leu)
c.90G>T (p.Trp30Cys)
c.7318G>T (p.Val2440Leu)
c.7330G>T (p.Val2444Leu)
c.7309G>T (p.Val2437Leu)
c.6964G>T (p.Val2322Leu)
c.3310G>T (p.Val1104Leu)
c.7204G>T (p.Val2402Leu)
c.7195G>T (p.Val2399Leu)
c.7210G>T (p.Val2404Leu)
c.1507G>T (p.Val503Leu)
Xg.31774169C>GCA412659155DMDc.2179G>C (p.Val727Leu)
c.-48G>C (n.-48G>C)
n.994G>C
n.916G>C
n.825G>C
c.7333G>C (p.Val2445Leu)
c.3301G>C (p.Val1101Leu)
c.322G>C (p.Val108Leu)
c.421G>C (p.Val141Leu)
c.7321G>C (p.Val2441Leu)
c.90G>C (p.Trp30Cys)
c.7318G>C (p.Val2440Leu)
c.7330G>C (p.Val2444Leu)
c.7309G>C (p.Val2437Leu)
c.6964G>C (p.Val2322Leu)
c.3310G>C (p.Val1104Leu)
c.7204G>C (p.Val2402Leu)
c.7195G>C (p.Val2399Leu)
c.7210G>C (p.Val2404Leu)
c.1507G>C (p.Val503Leu)
 ClinVar
Xg.31774169C>TCA412659156DMDc.2179G>A (p.Val727Met)
c.-48G>A (n.-48G>A)
n.994G>A
n.916G>A
n.825G>A
c.7333G>A (p.Val2445Met)
c.3301G>A (p.Val1101Met)
c.322G>A (p.Val108Met)
c.421G>A (p.Val141Met)
c.7321G>A (p.Val2441Met)
c.90G>A (p.Trp30Ter)
c.7318G>A (p.Val2440Met)
c.7330G>A (p.Val2444Met)
c.7309G>A (p.Val2437Met)
c.6964G>A (p.Val2322Met)
c.3310G>A (p.Val1104Met)
c.7204G>A (p.Val2402Met)
c.7195G>A (p.Val2399Met)
c.7210G>A (p.Val2404Met)
c.1507G>A (p.Val503Met)
Xg.31774170C>ACA515859422DMDc.2178G>T (p.Leu726=)
c.-49G>T (n.-49G>T)
n.993G>T
n.915G>T
n.824G>T
c.7332G>T (p.Leu2444=)
c.3300G>T (p.Leu1100=)
c.321G>T (p.Leu107=)
c.420G>T (p.Leu140=)
c.7320G>T (p.Leu2440=)
c.89G>T (p.Trp30Leu)
c.7317G>T (p.Leu2439=)
c.7329G>T (p.Leu2443=)
c.7308G>T (p.Leu2436=)
c.6963G>T (p.Leu2321=)
c.3309G>T (p.Leu1103=)
c.7203G>T (p.Leu2401=)
c.7194G>T (p.Leu2398=)
c.7209G>T (p.Leu2403=)
c.1506G>T (p.Leu502=)
Xg.31774170C=CA2422548674DMDc.2178G= (p.Leu726=)
c.-49G= (n.-49G=)
n.993G=
n.915G=
n.824G=
c.7332G= (p.Leu2444=)
c.3300G= (p.Leu1100=)
c.321G= (p.Leu107=)
c.420G= (p.Leu140=)
c.7320G= (p.Leu2440=)
c.89G= (p.Trp30=)
c.7317G= (p.Leu2439=)
c.7329G= (p.Leu2443=)
c.7308G= (p.Leu2436=)
c.6963G= (p.Leu2321=)
c.3309G= (p.Leu1103=)
c.7203G= (p.Leu2401=)
c.7194G= (p.Leu2398=)
c.7209G= (p.Leu2403=)
c.1506G= (p.Leu502=)
Xg.31774170C>GCA515859423DMDc.2178G>C (p.Leu726=)
c.-49G>C (n.-49G>C)
n.993G>C
n.915G>C
n.824G>C
c.7332G>C (p.Leu2444=)
c.3300G>C (p.Leu1100=)
c.321G>C (p.Leu107=)
c.420G>C (p.Leu140=)
c.7320G>C (p.Leu2440=)
c.89G>C (p.Trp30Ser)
c.7317G>C (p.Leu2439=)
c.7329G>C (p.Leu2443=)
c.7308G>C (p.Leu2436=)
c.6963G>C (p.Leu2321=)
c.3309G>C (p.Leu1103=)
c.7203G>C (p.Leu2401=)
c.7194G>C (p.Leu2398=)
c.7209G>C (p.Leu2403=)
c.1506G>C (p.Leu502=)
 ClinVar
Xg.31774170C>TCA515859424DMDc.2178G>A (p.Leu726=)
c.-49G>A (n.-49G>A)
n.993G>A
n.915G>A
n.824G>A
c.7332G>A (p.Leu2444=)
c.3300G>A (p.Leu1100=)
c.321G>A (p.Leu107=)
c.420G>A (p.Leu140=)
c.7320G>A (p.Leu2440=)
c.89G>A (p.Trp30Ter)
c.7317G>A (p.Leu2439=)
c.7329G>A (p.Leu2443=)
c.7308G>A (p.Leu2436=)
c.6963G>A (p.Leu2321=)
c.3309G>A (p.Leu1103=)
c.7203G>A (p.Leu2401=)
c.7194G>A (p.Leu2398=)
c.7209G>A (p.Leu2403=)
c.1506G>A (p.Leu502=)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774171A>CCA412659158DMDc.2177T>G (p.Leu726Arg)
c.-50T>G (n.-50T>G)
n.992T>G
n.914T>G
n.823T>G
c.7331T>G (p.Leu2444Arg)
c.3299T>G (p.Leu1100Arg)
c.320T>G (p.Leu107Arg)
c.419T>G (p.Leu140Arg)
c.7319T>G (p.Leu2440Arg)
c.88T>G (p.Trp30Gly)
c.7316T>G (p.Leu2439Arg)
c.7328T>G (p.Leu2443Arg)
c.7307T>G (p.Leu2436Arg)
c.6962T>G (p.Leu2321Arg)
c.3308T>G (p.Leu1103Arg)
c.7202T>G (p.Leu2401Arg)
c.7193T>G (p.Leu2398Arg)
c.7208T>G (p.Leu2403Arg)
c.1505T>G (p.Leu502Arg)
Xg.31774171A>GCA412659159DMDc.2177T>C (p.Leu726Pro)
c.-50T>C (n.-50T>C)
n.992T>C
n.914T>C
n.823T>C
c.7331T>C (p.Leu2444Pro)
c.3299T>C (p.Leu1100Pro)
c.320T>C (p.Leu107Pro)
c.419T>C (p.Leu140Pro)
c.7319T>C (p.Leu2440Pro)
c.88T>C (p.Trp30Arg)
c.7316T>C (p.Leu2439Pro)
c.7328T>C (p.Leu2443Pro)
c.7307T>C (p.Leu2436Pro)
c.6962T>C (p.Leu2321Pro)
c.3308T>C (p.Leu1103Pro)
c.7202T>C (p.Leu2401Pro)
c.7193T>C (p.Leu2398Pro)
c.7208T>C (p.Leu2403Pro)
c.1505T>C (p.Leu502Pro)
Xg.31774171A>TCA412659160DMDc.2177T>A (p.Leu726Gln)
c.-50T>A (n.-50T>A)
n.992T>A
n.914T>A
n.823T>A
c.7331T>A (p.Leu2444Gln)
c.3299T>A (p.Leu1100Gln)
c.320T>A (p.Leu107Gln)
c.419T>A (p.Leu140Gln)
c.7319T>A (p.Leu2440Gln)
c.88T>A (p.Trp30Arg)
c.7316T>A (p.Leu2439Gln)
c.7328T>A (p.Leu2443Gln)
c.7307T>A (p.Leu2436Gln)
c.6962T>A (p.Leu2321Gln)
c.3308T>A (p.Leu1103Gln)
c.7202T>A (p.Leu2401Gln)
c.7193T>A (p.Leu2398Gln)
c.7208T>A (p.Leu2403Gln)
c.1505T>A (p.Leu502Gln)
Xg.31774172G>ACA515859425DMDc.2176C>T (p.Leu726=)
c.-51C>T (n.-51C>T)
n.991C>T
n.913C>T
n.822C>T
c.7330C>T (p.Leu2444=)
c.3298C>T (p.Leu1100=)
c.319C>T (p.Leu107=)
c.418C>T (p.Leu140=)
c.7318C>T (p.Leu2440=)
c.87C>T (p.Leu29=)
c.7315C>T (p.Leu2439=)
c.7327C>T (p.Leu2443=)
c.7306C>T (p.Leu2436=)
c.6961C>T (p.Leu2321=)
c.3307C>T (p.Leu1103=)
c.7201C>T (p.Leu2401=)
c.7192C>T (p.Leu2398=)
c.7207C>T (p.Leu2403=)
c.1504C>T (p.Leu502=)
Xg.31774172G>CCA412659161DMDc.2176C>G (p.Leu726Val)
c.-51C>G (n.-51C>G)
n.991C>G
n.913C>G
n.822C>G
c.7330C>G (p.Leu2444Val)
c.3298C>G (p.Leu1100Val)
c.319C>G (p.Leu107Val)
c.418C>G (p.Leu140Val)
c.7318C>G (p.Leu2440Val)
c.87C>G (p.Leu29=)
c.7315C>G (p.Leu2439Val)
c.7327C>G (p.Leu2443Val)
c.7306C>G (p.Leu2436Val)
c.6961C>G (p.Leu2321Val)
c.3307C>G (p.Leu1103Val)
c.7201C>G (p.Leu2401Val)
c.7192C>G (p.Leu2398Val)
c.7207C>G (p.Leu2403Val)
c.1504C>G (p.Leu502Val)
Xg.31774172G>TCA412659162DMDc.2176C>A (p.Leu726Met)
c.-51C>A (n.-51C>A)
n.991C>A
n.913C>A
n.822C>A
c.7330C>A (p.Leu2444Met)
c.3298C>A (p.Leu1100Met)
c.319C>A (p.Leu107Met)
c.418C>A (p.Leu140Met)
c.7318C>A (p.Leu2440Met)
c.87C>A (p.Leu29=)
c.7315C>A (p.Leu2439Met)
c.7327C>A (p.Leu2443Met)
c.7306C>A (p.Leu2436Met)
c.6961C>A (p.Leu2321Met)
c.3307C>A (p.Leu1103Met)
c.7201C>A (p.Leu2401Met)
c.7192C>A (p.Leu2398Met)
c.7207C>A (p.Leu2403Met)
c.1504C>A (p.Leu502Met)
Xg.31774172_31774173insTCA2695232467DMDc.2175_2176insA (p.Leu726ThrfsTer9)
c.-52_-51insA (n.-52_-51insA)
n.990_991insA
n.912_913insA
n.821_822insA
c.7329_7330insA (p.Leu2444ThrfsTer9)
c.3297_3298insA (p.Leu1100ThrfsTer9)
c.318_319insA (p.Leu107ThrfsTer9)
c.417_418insA (p.Leu140ThrfsTer9)
c.7317_7318insA (p.Leu2440ThrfsTer9)
c.86_87insA (p.Trp30LeufsTer?)
c.7314_7315insA (p.Leu2439ThrfsTer9)
c.7326_7327insA (p.Leu2443ThrfsTer9)
c.7305_7306insA (p.Leu2436ThrfsTer9)
c.6960_6961insA (p.Leu2321ThrfsTer9)
c.3306_3307insA (p.Leu1103ThrfsTer9)
c.7200_7201insA (p.Leu2401ThrfsTer9)
c.7191_7192insA (p.Leu2398ThrfsTer9)
c.7206_7207insA (p.Leu2403ThrfsTer9)
c.1503_1504insA (p.Leu502ThrfsTer9)
Xg.31774173A>CCA515859426DMDc.2175T>G (p.Thr725=)
c.-52T>G (n.-52T>G)
n.990T>G
n.912T>G
n.821T>G
c.7329T>G (p.Thr2443=)
c.3297T>G (p.Thr1099=)
c.318T>G (p.Thr106=)
c.417T>G (p.Thr139=)
c.7317T>G (p.Thr2439=)
c.86T>G (p.Leu29Arg)
c.7314T>G (p.Thr2438=)
c.7326T>G (p.Thr2442=)
c.7305T>G (p.Thr2435=)
c.6960T>G (p.Thr2320=)
c.3306T>G (p.Thr1102=)
c.7200T>G (p.Thr2400=)
c.7191T>G (p.Thr2397=)
c.7206T>G (p.Thr2402=)
c.1503T>G (p.Thr501=)
Xg.31774173A>GCA515859427DMDc.2175T>C (p.Thr725=)
c.-52T>C (n.-52T>C)
n.990T>C
n.912T>C
n.821T>C
c.7329T>C (p.Thr2443=)
c.3297T>C (p.Thr1099=)
c.318T>C (p.Thr106=)
c.417T>C (p.Thr139=)
c.7317T>C (p.Thr2439=)
c.86T>C (p.Leu29Pro)
c.7314T>C (p.Thr2438=)
c.7326T>C (p.Thr2442=)
c.7305T>C (p.Thr2435=)
c.6960T>C (p.Thr2320=)
c.3306T>C (p.Thr1102=)
c.7200T>C (p.Thr2400=)
c.7191T>C (p.Thr2397=)
c.7206T>C (p.Thr2402=)
c.1503T>C (p.Thr501=)
Xg.31774173A>TCA515859428DMDc.2175T>A (p.Thr725=)
c.-52T>A (n.-52T>A)
n.990T>A
n.912T>A
n.821T>A
c.7329T>A (p.Thr2443=)
c.3297T>A (p.Thr1099=)
c.318T>A (p.Thr106=)
c.417T>A (p.Thr139=)
c.7317T>A (p.Thr2439=)
c.86T>A (p.Leu29His)
c.7314T>A (p.Thr2438=)
c.7326T>A (p.Thr2442=)
c.7305T>A (p.Thr2435=)
c.6960T>A (p.Thr2320=)
c.3306T>A (p.Thr1102=)
c.7200T>A (p.Thr2400=)
c.7191T>A (p.Thr2397=)
c.7206T>A (p.Thr2402=)
c.1503T>A (p.Thr501=)
Xg.31774174G>ACA412659163DMDc.2174C>T (p.Thr725Ile)
c.-53C>T (n.-53C>T)
n.989C>T
n.911C>T
n.820C>T
c.7328C>T (p.Thr2443Ile)
c.3296C>T (p.Thr1099Ile)
c.317C>T (p.Thr106Ile)
c.416C>T (p.Thr139Ile)
c.7316C>T (p.Thr2439Ile)
c.85C>T (p.Leu29Phe)
c.7313C>T (p.Thr2438Ile)
c.7325C>T (p.Thr2442Ile)
c.7304C>T (p.Thr2435Ile)
c.6959C>T (p.Thr2320Ile)
c.3305C>T (p.Thr1102Ile)
c.7199C>T (p.Thr2400Ile)
c.7190C>T (p.Thr2397Ile)
c.7205C>T (p.Thr2402Ile)
c.1502C>T (p.Thr501Ile)
 dbSNP gnomAD v4
Xg.31774174G>CCA412659165DMDc.2174C>G (p.Thr725Ser)
c.-53C>G (n.-53C>G)
n.989C>G
n.911C>G
n.820C>G
c.7328C>G (p.Thr2443Ser)
c.3296C>G (p.Thr1099Ser)
c.317C>G (p.Thr106Ser)
c.416C>G (p.Thr139Ser)
c.7316C>G (p.Thr2439Ser)
c.85C>G (p.Leu29Val)
c.7313C>G (p.Thr2438Ser)
c.7325C>G (p.Thr2442Ser)
c.7304C>G (p.Thr2435Ser)
c.6959C>G (p.Thr2320Ser)
c.3305C>G (p.Thr1102Ser)
c.7199C>G (p.Thr2400Ser)
c.7190C>G (p.Thr2397Ser)
c.7205C>G (p.Thr2402Ser)
c.1502C>G (p.Thr501Ser)
Xg.31774174G=CA2422548675DMDc.2174C= (p.Thr725=)
c.-53C= (n.-53C=)
n.989C=
n.911C=
n.820C=
c.7328C= (p.Thr2443=)
c.3296C= (p.Thr1099=)
c.317C= (p.Thr106=)
c.416C= (p.Thr139=)
c.7316C= (p.Thr2439=)
c.85C= (p.Leu29=)
c.7313C= (p.Thr2438=)
c.7325C= (p.Thr2442=)
c.7304C= (p.Thr2435=)
c.6959C= (p.Thr2320=)
c.3305C= (p.Thr1102=)
c.7199C= (p.Thr2400=)
c.7190C= (p.Thr2397=)
c.7205C= (p.Thr2402=)
c.1502C= (p.Thr501=)
Xg.31774174G>TCA412659164DMDc.2174C>A (p.Thr725Asn)
c.-53C>A (n.-53C>A)
n.989C>A
n.911C>A
n.820C>A
c.7328C>A (p.Thr2443Asn)
c.3296C>A (p.Thr1099Asn)
c.317C>A (p.Thr106Asn)
c.416C>A (p.Thr139Asn)
c.7316C>A (p.Thr2439Asn)
c.85C>A (p.Leu29Ile)
c.7313C>A (p.Thr2438Asn)
c.7325C>A (p.Thr2442Asn)
c.7304C>A (p.Thr2435Asn)
c.6959C>A (p.Thr2320Asn)
c.3305C>A (p.Thr1102Asn)
c.7199C>A (p.Thr2400Asn)
c.7190C>A (p.Thr2397Asn)
c.7205C>A (p.Thr2402Asn)
c.1502C>A (p.Thr501Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774174_31774175delCA2580100616DMDc.2173_2174del (p.Thr725SerfsTer9)
c.-54_-53del (n.-54_-53del)
n.988_989del
n.910_911del
n.819_820del
c.7327_7328del (p.Thr2443SerfsTer9)
c.3295_3296del (p.Thr1099SerfsTer9)
c.316_317del (p.Thr106SerfsTer9)
c.415_416del (p.Thr139SerfsTer9)
c.7315_7316del (p.Thr2439SerfsTer9)
c.84_85del (p.Leu28PhefsTer?)
c.7312_7313del (p.Thr2438SerfsTer9)
c.7324_7325del (p.Thr2442SerfsTer9)
c.7303_7304del (p.Thr2435SerfsTer9)
c.6958_6959del (p.Thr2320SerfsTer9)
c.3304_3305del (p.Thr1102SerfsTer9)
c.7198_7199del (p.Thr2400SerfsTer9)
c.7189_7190del (p.Thr2397SerfsTer9)
c.7204_7205del (p.Thr2402SerfsTer9)
c.1501_1502del (p.Thr501SerfsTer9)
 ClinVar
Xg.31774175T>ACA412659166DMDc.2173A>T (p.Thr725Ser)
c.-54A>T (n.-54A>T)
n.988A>T
n.910A>T
n.819A>T
c.7327A>T (p.Thr2443Ser)
c.3295A>T (p.Thr1099Ser)
c.316A>T (p.Thr106Ser)
c.415A>T (p.Thr139Ser)
c.7315A>T (p.Thr2439Ser)
c.84A>T (p.Leu28Phe)
c.7312A>T (p.Thr2438Ser)
c.7324A>T (p.Thr2442Ser)
c.7303A>T (p.Thr2435Ser)
c.6958A>T (p.Thr2320Ser)
c.3304A>T (p.Thr1102Ser)
c.7198A>T (p.Thr2400Ser)
c.7189A>T (p.Thr2397Ser)
c.7204A>T (p.Thr2402Ser)
c.1501A>T (p.Thr501Ser)
Xg.31774175T>CCA412659167DMDc.2173A>G (p.Thr725Ala)
c.-54A>G (n.-54A>G)
n.988A>G
n.910A>G
n.819A>G
c.7327A>G (p.Thr2443Ala)
c.3295A>G (p.Thr1099Ala)
c.316A>G (p.Thr106Ala)
c.415A>G (p.Thr139Ala)
c.7315A>G (p.Thr2439Ala)
c.84A>G (p.Leu28=)
c.7312A>G (p.Thr2438Ala)
c.7324A>G (p.Thr2442Ala)
c.7303A>G (p.Thr2435Ala)
c.6958A>G (p.Thr2320Ala)
c.3304A>G (p.Thr1102Ala)
c.7198A>G (p.Thr2400Ala)
c.7189A>G (p.Thr2397Ala)
c.7204A>G (p.Thr2402Ala)
c.1501A>G (p.Thr501Ala)
Xg.31774175T>GCA10378287DMDc.2173A>C (p.Thr725Pro)
c.-54A>C (n.-54A>C)
n.988A>C
n.910A>C
n.819A>C
c.7327A>C (p.Thr2443Pro)
c.3295A>C (p.Thr1099Pro)
c.316A>C (p.Thr106Pro)
c.415A>C (p.Thr139Pro)
c.7315A>C (p.Thr2439Pro)
c.84A>C (p.Leu28Phe)
c.7312A>C (p.Thr2438Pro)
c.7324A>C (p.Thr2442Pro)
c.7303A>C (p.Thr2435Pro)
c.6958A>C (p.Thr2320Pro)
c.3304A>C (p.Thr1102Pro)
c.7198A>C (p.Thr2400Pro)
c.7189A>C (p.Thr2397Pro)
c.7204A>C (p.Thr2402Pro)
c.1501A>C (p.Thr501Pro)
 ClinVar dbSNP ExAC
Xg.31774175T=CA2422548676DMDc.2173A= (p.Thr725=)
c.-54A= (n.-54A=)
n.988A=
n.910A=
n.819A=
c.7327A= (p.Thr2443=)
c.3295A= (p.Thr1099=)
c.316A= (p.Thr106=)
c.415A= (p.Thr139=)
c.7315A= (p.Thr2439=)
c.84A= (p.Leu28=)
c.7312A= (p.Thr2438=)
c.7324A= (p.Thr2442=)
c.7303A= (p.Thr2435=)
c.6958A= (p.Thr2320=)
c.3304A= (p.Thr1102=)
c.7198A= (p.Thr2400=)
c.7189A= (p.Thr2397=)
c.7204A= (p.Thr2402=)
c.1501A= (p.Thr501=)
Xg.31774175dupCA2695232468DMDc.2173dup (p.Thr725AsnfsTer10)
c.-54dup (n.-54dup)
n.988dup
n.910dup
n.819dup
c.7327dup (p.Thr2443AsnfsTer10)
c.3295dup (p.Thr1099AsnfsTer10)
c.316dup (p.Thr106AsnfsTer10)
c.415dup (p.Thr139AsnfsTer10)
c.7315dup (p.Thr2439AsnfsTer10)
c.84dup (p.Leu29ThrfsTer?)
c.7312dup (p.Thr2438AsnfsTer10)
c.7324dup (p.Thr2442AsnfsTer10)
c.7303dup (p.Thr2435AsnfsTer10)
c.6958dup (p.Thr2320AsnfsTer10)
c.3304dup (p.Thr1102AsnfsTer10)
c.7198dup (p.Thr2400AsnfsTer10)
c.7189dup (p.Thr2397AsnfsTer10)
c.7204dup (p.Thr2402AsnfsTer10)
c.1501dup (p.Thr501AsnfsTer10)
Xg.31774176A=CA2422548677DMDc.2172T= (p.Val724=)
c.-55T= (n.-55T=)
n.987T=
n.909T=
n.818T=
c.7326T= (p.Val2442=)
c.3294T= (p.Val1098=)
c.315T= (p.Val105=)
c.414T= (p.Val138=)
c.7314T= (p.Val2438=)
c.83T= (p.Leu28=)
c.7311T= (p.Val2437=)
c.7323T= (p.Val2441=)
c.7302T= (p.Val2434=)
c.6957T= (p.Val2319=)
c.3303T= (p.Val1101=)
c.7197T= (p.Val2399=)
c.7188T= (p.Val2396=)
c.7203T= (p.Val2401=)
c.1500T= (p.Val500=)
Xg.31774176A>CCA515859429DMDc.2172T>G (p.Val724=)
c.-55T>G (n.-55T>G)
n.987T>G
n.909T>G
n.818T>G
c.7326T>G (p.Val2442=)
c.3294T>G (p.Val1098=)
c.315T>G (p.Val105=)
c.414T>G (p.Val138=)
c.7314T>G (p.Val2438=)
c.83T>G (p.Leu28Ter)
c.7311T>G (p.Val2437=)
c.7323T>G (p.Val2441=)
c.7302T>G (p.Val2434=)
c.6957T>G (p.Val2319=)
c.3303T>G (p.Val1101=)
c.7197T>G (p.Val2399=)
c.7188T>G (p.Val2396=)
c.7203T>G (p.Val2401=)
c.1500T>G (p.Val500=)
Xg.31774176A>GCA10378288DMDc.2172T>C (p.Val724=)
c.-55T>C (n.-55T>C)
n.987T>C
n.909T>C
n.818T>C
c.7326T>C (p.Val2442=)
c.3294T>C (p.Val1098=)
c.315T>C (p.Val105=)
c.414T>C (p.Val138=)
c.7314T>C (p.Val2438=)
c.83T>C (p.Leu28Ser)
c.7311T>C (p.Val2437=)
c.7323T>C (p.Val2441=)
c.7302T>C (p.Val2434=)
c.6957T>C (p.Val2319=)
c.3303T>C (p.Val1101=)
c.7197T>C (p.Val2399=)
c.7188T>C (p.Val2396=)
c.7203T>C (p.Val2401=)
c.1500T>C (p.Val500=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774176A>TCA515859430DMDc.2172T>A (p.Val724=)
c.-55T>A (n.-55T>A)
n.987T>A
n.909T>A
n.818T>A
c.7326T>A (p.Val2442=)
c.3294T>A (p.Val1098=)
c.315T>A (p.Val105=)
c.414T>A (p.Val138=)
c.7314T>A (p.Val2438=)
c.83T>A (p.Leu28Ter)
c.7311T>A (p.Val2437=)
c.7323T>A (p.Val2441=)
c.7302T>A (p.Val2434=)
c.6957T>A (p.Val2319=)
c.3303T>A (p.Val1101=)
c.7197T>A (p.Val2399=)
c.7188T>A (p.Val2396=)
c.7203T>A (p.Val2401=)
c.1500T>A (p.Val500=)
Xg.31774177A>CCA412659168DMDc.2171T>G (p.Val724Gly)
c.-56T>G (n.-56T>G)
n.986T>G
n.908T>G
n.817T>G
c.7325T>G (p.Val2442Gly)
c.3293T>G (p.Val1098Gly)
c.314T>G (p.Val105Gly)
c.413T>G (p.Val138Gly)
c.7313T>G (p.Val2438Gly)
c.82T>G (p.Leu28Val)
c.7310T>G (p.Val2437Gly)
c.7322T>G (p.Val2441Gly)
c.7301T>G (p.Val2434Gly)
c.6956T>G (p.Val2319Gly)
c.3302T>G (p.Val1101Gly)
c.7196T>G (p.Val2399Gly)
c.7187T>G (p.Val2396Gly)
c.7202T>G (p.Val2401Gly)
c.1499T>G (p.Val500Gly)
Xg.31774177A>GCA412659169DMDc.2171T>C (p.Val724Ala)
c.-56T>C (n.-56T>C)
n.986T>C
n.908T>C
n.817T>C
c.7325T>C (p.Val2442Ala)
c.3293T>C (p.Val1098Ala)
c.314T>C (p.Val105Ala)
c.413T>C (p.Val138Ala)
c.7313T>C (p.Val2438Ala)
c.82T>C (p.Leu28=)
c.7310T>C (p.Val2437Ala)
c.7322T>C (p.Val2441Ala)
c.7301T>C (p.Val2434Ala)
c.6956T>C (p.Val2319Ala)
c.3302T>C (p.Val1101Ala)
c.7196T>C (p.Val2399Ala)
c.7187T>C (p.Val2396Ala)
c.7202T>C (p.Val2401Ala)
c.1499T>C (p.Val500Ala)
Xg.31774177A>TCA412659170DMDc.2171T>A (p.Val724Asp)
c.-56T>A (n.-56T>A)
n.986T>A
n.908T>A
n.817T>A
c.7325T>A (p.Val2442Asp)
c.3293T>A (p.Val1098Asp)
c.314T>A (p.Val105Asp)
c.413T>A (p.Val138Asp)
c.7313T>A (p.Val2438Asp)
c.82T>A (p.Leu28Ile)
c.7310T>A (p.Val2437Asp)
c.7322T>A (p.Val2441Asp)
c.7301T>A (p.Val2434Asp)
c.6956T>A (p.Val2319Asp)
c.3302T>A (p.Val1101Asp)
c.7196T>A (p.Val2399Asp)
c.7187T>A (p.Val2396Asp)
c.7202T>A (p.Val2401Asp)
c.1499T>A (p.Val500Asp)
Xg.31774178C>ACA412659171DMDc.2170G>T (p.Val724Phe)
c.-57G>T (n.-57G>T)
n.985G>T
n.907G>T
n.816G>T
c.7324G>T (p.Val2442Phe)
c.3292G>T (p.Val1098Phe)
c.313G>T (p.Val105Phe)
c.412G>T (p.Val138Phe)
c.7312G>T (p.Val2438Phe)
c.81G>T (p.Leu27=)
c.7309G>T (p.Val2437Phe)
c.7321G>T (p.Val2441Phe)
c.7300G>T (p.Val2434Phe)
c.6955G>T (p.Val2319Phe)
c.3301G>T (p.Val1101Phe)
c.7195G>T (p.Val2399Phe)
c.7186G>T (p.Val2396Phe)
c.7201G>T (p.Val2401Phe)
c.1498G>T (p.Val500Phe)
Xg.31774178C=CA2422548678DMDc.2170G= (p.Val724=)
c.-57G= (n.-57G=)
n.985G=
n.907G=
n.816G=
c.7324G= (p.Val2442=)
c.3292G= (p.Val1098=)
c.313G= (p.Val105=)
c.412G= (p.Val138=)
c.7312G= (p.Val2438=)
c.81G= (p.Leu27=)
c.7309G= (p.Val2437=)
c.7321G= (p.Val2441=)
c.7300G= (p.Val2434=)
c.6955G= (p.Val2319=)
c.3301G= (p.Val1101=)
c.7195G= (p.Val2399=)
c.7186G= (p.Val2396=)
c.7201G= (p.Val2401=)
c.1498G= (p.Val500=)
Xg.31774178C>GCA412659172DMDc.2170G>C (p.Val724Leu)
c.-57G>C (n.-57G>C)
n.985G>C
n.907G>C
n.816G>C
c.7324G>C (p.Val2442Leu)
c.3292G>C (p.Val1098Leu)
c.313G>C (p.Val105Leu)
c.412G>C (p.Val138Leu)
c.7312G>C (p.Val2438Leu)
c.81G>C (p.Leu27=)
c.7309G>C (p.Val2437Leu)
c.7321G>C (p.Val2441Leu)
c.7300G>C (p.Val2434Leu)
c.6955G>C (p.Val2319Leu)
c.3301G>C (p.Val1101Leu)
c.7195G>C (p.Val2399Leu)
c.7186G>C (p.Val2396Leu)
c.7201G>C (p.Val2401Leu)
c.1498G>C (p.Val500Leu)
Xg.31774178C>TCA412659173DMDc.2170G>A (p.Val724Ile)
c.-57G>A (n.-57G>A)
n.985G>A
n.907G>A
n.816G>A
c.7324G>A (p.Val2442Ile)
c.3292G>A (p.Val1098Ile)
c.313G>A (p.Val105Ile)
c.412G>A (p.Val138Ile)
c.7312G>A (p.Val2438Ile)
c.81G>A (p.Leu27=)
c.7309G>A (p.Val2437Ile)
c.7321G>A (p.Val2441Ile)
c.7300G>A (p.Val2434Ile)
c.6955G>A (p.Val2319Ile)
c.3301G>A (p.Val1101Ile)
c.7195G>A (p.Val2399Ile)
c.7186G>A (p.Val2396Ile)
c.7201G>A (p.Val2401Ile)
c.1498G>A (p.Val500Ile)
 dbSNP gnomAD v4
Xg.31774179A=CA2422548679DMDc.2169T= (p.Thr723=)
c.-58T= (n.-58T=)
n.984T=
n.906T=
n.815T=
c.7323T= (p.Thr2441=)
c.3291T= (p.Thr1097=)
c.312T= (p.Thr104=)
c.411T= (p.Thr137=)
c.7311T= (p.Thr2437=)
c.80T= (p.Leu27=)
c.7308T= (p.Thr2436=)
c.7320T= (p.Thr2440=)
c.7299T= (p.Thr2433=)
c.6954T= (p.Thr2318=)
c.3300T= (p.Thr1100=)
c.7194T= (p.Thr2398=)
c.7185T= (p.Thr2395=)
c.7200T= (p.Thr2400=)
c.1497T= (p.Thr499=)
Xg.31774179A>CCA515859432DMDc.2169T>G (p.Thr723=)
c.-58T>G (n.-58T>G)
n.984T>G
n.906T>G
n.815T>G
c.7323T>G (p.Thr2441=)
c.3291T>G (p.Thr1097=)
c.312T>G (p.Thr104=)
c.411T>G (p.Thr137=)
c.7311T>G (p.Thr2437=)
c.80T>G (p.Leu27Arg)
c.7308T>G (p.Thr2436=)
c.7320T>G (p.Thr2440=)
c.7299T>G (p.Thr2433=)
c.6954T>G (p.Thr2318=)
c.3300T>G (p.Thr1100=)
c.7194T>G (p.Thr2398=)
c.7185T>G (p.Thr2395=)
c.7200T>G (p.Thr2400=)
c.1497T>G (p.Thr499=)
Xg.31774179A>GCA222490DMDc.2169T>C (p.Thr723=)
c.-58T>C (n.-58T>C)
n.984T>C
n.906T>C
n.815T>C
c.7323T>C (p.Thr2441=)
c.3291T>C (p.Thr1097=)
c.312T>C (p.Thr104=)
c.411T>C (p.Thr137=)
c.7311T>C (p.Thr2437=)
c.80T>C (p.Leu27Pro)
c.7308T>C (p.Thr2436=)
c.7320T>C (p.Thr2440=)
c.7299T>C (p.Thr2433=)
c.6954T>C (p.Thr2318=)
c.3300T>C (p.Thr1100=)
c.7194T>C (p.Thr2398=)
c.7185T>C (p.Thr2395=)
c.7200T>C (p.Thr2400=)
c.1497T>C (p.Thr499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774179A>TCA515859431DMDc.2169T>A (p.Thr723=)
c.-58T>A (n.-58T>A)
n.984T>A
n.906T>A
n.815T>A
c.7323T>A (p.Thr2441=)
c.3291T>A (p.Thr1097=)
c.312T>A (p.Thr104=)
c.411T>A (p.Thr137=)
c.7311T>A (p.Thr2437=)
c.80T>A (p.Leu27Gln)
c.7308T>A (p.Thr2436=)
c.7320T>A (p.Thr2440=)
c.7299T>A (p.Thr2433=)
c.6954T>A (p.Thr2318=)
c.3300T>A (p.Thr1100=)
c.7194T>A (p.Thr2398=)
c.7185T>A (p.Thr2395=)
c.7200T>A (p.Thr2400=)
c.1497T>A (p.Thr499=)
 ClinVar
Xg.31774180G>ACA412659176DMDc.2168C>T (p.Thr723Ile)
c.-59C>T (n.-59C>T)
n.983C>T
n.905C>T
n.814C>T
c.7322C>T (p.Thr2441Ile)
c.3290C>T (p.Thr1097Ile)
c.311C>T (p.Thr104Ile)
c.410C>T (p.Thr137Ile)
c.7310C>T (p.Thr2437Ile)
c.79C>T (p.Leu27=)
c.7307C>T (p.Thr2436Ile)
c.7319C>T (p.Thr2440Ile)
c.7298C>T (p.Thr2433Ile)
c.6953C>T (p.Thr2318Ile)
c.3299C>T (p.Thr1100Ile)
c.7193C>T (p.Thr2398Ile)
c.7184C>T (p.Thr2395Ile)
c.7199C>T (p.Thr2400Ile)
c.1496C>T (p.Thr499Ile)
Xg.31774180G>CCA412659175DMDc.2168C>G (p.Thr723Ser)
c.-59C>G (n.-59C>G)
n.983C>G
n.905C>G
n.814C>G
c.7322C>G (p.Thr2441Ser)
c.3290C>G (p.Thr1097Ser)
c.311C>G (p.Thr104Ser)
c.410C>G (p.Thr137Ser)
c.7310C>G (p.Thr2437Ser)
c.79C>G (p.Leu27Val)
c.7307C>G (p.Thr2436Ser)
c.7319C>G (p.Thr2440Ser)
c.7298C>G (p.Thr2433Ser)
c.6953C>G (p.Thr2318Ser)
c.3299C>G (p.Thr1100Ser)
c.7193C>G (p.Thr2398Ser)
c.7184C>G (p.Thr2395Ser)
c.7199C>G (p.Thr2400Ser)
c.1496C>G (p.Thr499Ser)
Xg.31774180G>TCA412659174DMDc.2168C>A (p.Thr723Asn)
c.-59C>A (n.-59C>A)
n.983C>A
n.905C>A
n.814C>A
c.7322C>A (p.Thr2441Asn)
c.3290C>A (p.Thr1097Asn)
c.311C>A (p.Thr104Asn)
c.410C>A (p.Thr137Asn)
c.7310C>A (p.Thr2437Asn)
c.79C>A (p.Leu27Met)
c.7307C>A (p.Thr2436Asn)
c.7319C>A (p.Thr2440Asn)
c.7298C>A (p.Thr2433Asn)
c.6953C>A (p.Thr2318Asn)
c.3299C>A (p.Thr1100Asn)
c.7193C>A (p.Thr2398Asn)
c.7184C>A (p.Thr2395Asn)
c.7199C>A (p.Thr2400Asn)
c.1496C>A (p.Thr499Asn)
Xg.31774181T>ACA412659177DMDc.2167A>T (p.Thr723Ser)
c.-60A>T (n.-60A>T)
n.982A>T
n.904A>T
n.813A>T
c.7321A>T (p.Thr2441Ser)
c.3289A>T (p.Thr1097Ser)
c.310A>T (p.Thr104Ser)
c.409A>T (p.Thr137Ser)
c.7309A>T (p.Thr2437Ser)
c.78A>T (p.Arg26Ser)
c.7306A>T (p.Thr2436Ser)
c.7318A>T (p.Thr2440Ser)
c.7297A>T (p.Thr2433Ser)
c.6952A>T (p.Thr2318Ser)
c.3298A>T (p.Thr1100Ser)
c.7192A>T (p.Thr2398Ser)
c.7183A>T (p.Thr2395Ser)
c.7198A>T (p.Thr2400Ser)
c.1495A>T (p.Thr499Ser)
Xg.31774181T>CCA412659178DMDc.2167A>G (p.Thr723Ala)
c.-60A>G (n.-60A>G)
n.982A>G
n.904A>G
n.813A>G
c.7321A>G (p.Thr2441Ala)
c.3289A>G (p.Thr1097Ala)
c.310A>G (p.Thr104Ala)
c.409A>G (p.Thr137Ala)
c.7309A>G (p.Thr2437Ala)
c.78A>G (p.Arg26=)
c.7306A>G (p.Thr2436Ala)
c.7318A>G (p.Thr2440Ala)
c.7297A>G (p.Thr2433Ala)
c.6952A>G (p.Thr2318Ala)
c.3298A>G (p.Thr1100Ala)
c.7192A>G (p.Thr2398Ala)
c.7183A>G (p.Thr2395Ala)
c.7198A>G (p.Thr2400Ala)
c.1495A>G (p.Thr499Ala)
Xg.31774181T>GCA10378289DMDc.2167A>C (p.Thr723Pro)
c.-60A>C (n.-60A>C)
n.982A>C
n.904A>C
n.813A>C
c.7321A>C (p.Thr2441Pro)
c.3289A>C (p.Thr1097Pro)
c.310A>C (p.Thr104Pro)
c.409A>C (p.Thr137Pro)
c.7309A>C (p.Thr2437Pro)
c.78A>C (p.Arg26Ser)
c.7306A>C (p.Thr2436Pro)
c.7318A>C (p.Thr2440Pro)
c.7297A>C (p.Thr2433Pro)
c.6952A>C (p.Thr2318Pro)
c.3298A>C (p.Thr1100Pro)
c.7192A>C (p.Thr2398Pro)
c.7183A>C (p.Thr2395Pro)
c.7198A>C (p.Thr2400Pro)
c.1495A>C (p.Thr499Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774181T=CA2422548680DMDc.2167A= (p.Thr723=)
c.-60A= (n.-60A=)
n.982A=
n.904A=
n.813A=
c.7321A= (p.Thr2441=)
c.3289A= (p.Thr1097=)
c.310A= (p.Thr104=)
c.409A= (p.Thr137=)
c.7309A= (p.Thr2437=)
c.78A= (p.Arg26=)
c.7306A= (p.Thr2436=)
c.7318A= (p.Thr2440=)
c.7297A= (p.Thr2433=)
c.6952A= (p.Thr2318=)
c.3298A= (p.Thr1100=)
c.7192A= (p.Thr2398=)
c.7183A= (p.Thr2395=)
c.7198A= (p.Thr2400=)
c.1495A= (p.Thr499=)
Xg.31774182C>ACA412659179DMDc.2166G>T (p.Gln722His)
c.-61G>T (n.-61G>T)
n.981G>T
n.903G>T
n.812G>T
c.7320G>T (p.Gln2440His)
c.3288G>T (p.Gln1096His)
c.309G>T (p.Gln103His)
c.408G>T (p.Gln136His)
c.7308G>T (p.Gln2436His)
c.77G>T (p.Arg26Ile)
c.7305G>T (p.Gln2435His)
c.7317G>T (p.Gln2439His)
c.7296G>T (p.Gln2432His)
c.6951G>T (p.Gln2317His)
c.3297G>T (p.Gln1099His)
c.7191G>T (p.Gln2397His)
c.7182G>T (p.Gln2394His)
c.7197G>T (p.Gln2399His)
c.1494G>T (p.Gln498His)
Xg.31774182C=CA2422548681DMDc.2166G= (p.Gln722=)
c.-61G= (n.-61G=)
n.981G=
n.903G=
n.812G=
c.7320G= (p.Gln2440=)
c.3288G= (p.Gln1096=)
c.309G= (p.Gln103=)
c.408G= (p.Gln136=)
c.7308G= (p.Gln2436=)
c.77G= (p.Arg26=)
c.7305G= (p.Gln2435=)
c.7317G= (p.Gln2439=)
c.7296G= (p.Gln2432=)
c.6951G= (p.Gln2317=)
c.3297G= (p.Gln1099=)
c.7191G= (p.Gln2397=)
c.7182G= (p.Gln2394=)
c.7197G= (p.Gln2399=)
c.1494G= (p.Gln498=)
Xg.31774182C>GCA412659180DMDc.2166G>C (p.Gln722His)
c.-61G>C (n.-61G>C)
n.981G>C
n.903G>C
n.812G>C
c.7320G>C (p.Gln2440His)
c.3288G>C (p.Gln1096His)
c.309G>C (p.Gln103His)
c.408G>C (p.Gln136His)
c.7308G>C (p.Gln2436His)
c.77G>C (p.Arg26Thr)
c.7305G>C (p.Gln2435His)
c.7317G>C (p.Gln2439His)
c.7296G>C (p.Gln2432His)
c.6951G>C (p.Gln2317His)
c.3297G>C (p.Gln1099His)
c.7191G>C (p.Gln2397His)
c.7182G>C (p.Gln2394His)
c.7197G>C (p.Gln2399His)
c.1494G>C (p.Gln498His)
Xg.31774182C>TCA515859434DMDc.2166G>A (p.Gln722=)
c.-61G>A (n.-61G>A)
n.981G>A
n.903G>A
n.812G>A
c.7320G>A (p.Gln2440=)
c.3288G>A (p.Gln1096=)
c.309G>A (p.Gln103=)
c.408G>A (p.Gln136=)
c.7308G>A (p.Gln2436=)
c.77G>A (p.Arg26Lys)
c.7305G>A (p.Gln2435=)
c.7317G>A (p.Gln2439=)
c.7296G>A (p.Gln2432=)
c.6951G>A (p.Gln2317=)
c.3297G>A (p.Gln1099=)
c.7191G>A (p.Gln2397=)
c.7182G>A (p.Gln2394=)
c.7197G>A (p.Gln2399=)
c.1494G>A (p.Gln498=)
 ClinVar dbSNP
Xg.31774183T>ACA412659181DMDc.2165A>T (p.Gln722Leu)
c.-62A>T (n.-62A>T)
n.980A>T
n.902A>T
n.811A>T
c.7319A>T (p.Gln2440Leu)
c.3287A>T (p.Gln1096Leu)
c.308A>T (p.Gln103Leu)
c.407A>T (p.Gln136Leu)
c.7307A>T (p.Gln2436Leu)
c.76A>T (p.Arg26Ter)
c.7304A>T (p.Gln2435Leu)
c.7316A>T (p.Gln2439Leu)
c.7295A>T (p.Gln2432Leu)
c.6950A>T (p.Gln2317Leu)
c.3296A>T (p.Gln1099Leu)
c.7190A>T (p.Gln2397Leu)
c.7181A>T (p.Gln2394Leu)
c.7196A>T (p.Gln2399Leu)
c.1493A>T (p.Gln498Leu)
Xg.31774183T>CCA412659182DMDc.2165A>G (p.Gln722Arg)
c.-62A>G (n.-62A>G)
n.980A>G
n.902A>G
n.811A>G
c.7319A>G (p.Gln2440Arg)
c.3287A>G (p.Gln1096Arg)
c.308A>G (p.Gln103Arg)
c.407A>G (p.Gln136Arg)
c.7307A>G (p.Gln2436Arg)
c.76A>G (p.Arg26Gly)
c.7304A>G (p.Gln2435Arg)
c.7316A>G (p.Gln2439Arg)
c.7295A>G (p.Gln2432Arg)
c.6950A>G (p.Gln2317Arg)
c.3296A>G (p.Gln1099Arg)
c.7190A>G (p.Gln2397Arg)
c.7181A>G (p.Gln2394Arg)
c.7196A>G (p.Gln2399Arg)
c.1493A>G (p.Gln498Arg)
 gnomAD v4
Xg.31774183T>GCA412659183DMDc.2165A>C (p.Gln722Pro)
c.-62A>C (n.-62A>C)
n.980A>C
n.902A>C
n.811A>C
c.7319A>C (p.Gln2440Pro)
c.3287A>C (p.Gln1096Pro)
c.308A>C (p.Gln103Pro)
c.407A>C (p.Gln136Pro)
c.7307A>C (p.Gln2436Pro)
c.76A>C (p.Arg26=)
c.7304A>C (p.Gln2435Pro)
c.7316A>C (p.Gln2439Pro)
c.7295A>C (p.Gln2432Pro)
c.6950A>C (p.Gln2317Pro)
c.3296A>C (p.Gln1099Pro)
c.7190A>C (p.Gln2397Pro)
c.7181A>C (p.Gln2394Pro)
c.7196A>C (p.Gln2399Pro)
c.1493A>C (p.Gln498Pro)
Xg.31774183dupCA658799657DMDc.2165dup (p.Thr723AspfsTer12)
c.-62dup (n.-62dup)
n.980dup
n.902dup
n.811dup
c.7319dup (p.Thr2441AspfsTer12)
c.3287dup (p.Thr1097AspfsTer12)
c.308dup (p.Thr104AspfsTer12)
c.407dup (p.Thr137AspfsTer12)
c.7307dup (p.Thr2437AspfsTer12)
c.76dup (p.Arg26LysfsTer?)
c.7304dup (p.Thr2436AspfsTer12)
c.7316dup (p.Thr2440AspfsTer12)
c.7295dup (p.Thr2433AspfsTer12)
c.6950dup (p.Thr2318AspfsTer12)
c.3296dup (p.Thr1100AspfsTer12)
c.7190dup (p.Thr2398AspfsTer12)
c.7181dup (p.Thr2395AspfsTer12)
c.7196dup (p.Thr2400AspfsTer12)
c.1493dup (p.Thr499AspfsTer12)
 ClinVar dbSNP
Xg.31774184G>ACA412659184DMDc.2164C>T (p.Gln722Ter)
c.-63C>T (n.-63C>T)
n.979C>T
n.901C>T
n.810C>T
c.7318C>T (p.Gln2440Ter)
c.3286C>T (p.Gln1096Ter)
c.307C>T (p.Gln103Ter)
c.406C>T (p.Gln136Ter)
c.7306C>T (p.Gln2436Ter)
c.75C>T (p.Leu25=)
c.7303C>T (p.Gln2435Ter)
c.7315C>T (p.Gln2439Ter)
c.7294C>T (p.Gln2432Ter)
c.6949C>T (p.Gln2317Ter)
c.3295C>T (p.Gln1099Ter)
c.7189C>T (p.Gln2397Ter)
c.7180C>T (p.Gln2394Ter)
c.7195C>T (p.Gln2399Ter)
c.1492C>T (p.Gln498Ter)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.31774184G>CCA412659185DMDc.2164C>G (p.Gln722Glu)
c.-63C>G (n.-63C>G)
n.979C>G
n.901C>G
n.810C>G
c.7318C>G (p.Gln2440Glu)
c.3286C>G (p.Gln1096Glu)
c.307C>G (p.Gln103Glu)
c.406C>G (p.Gln136Glu)
c.7306C>G (p.Gln2436Glu)
c.75C>G (p.Leu25=)
c.7303C>G (p.Gln2435Glu)
c.7315C>G (p.Gln2439Glu)
c.7294C>G (p.Gln2432Glu)
c.6949C>G (p.Gln2317Glu)
c.3295C>G (p.Gln1099Glu)
c.7189C>G (p.Gln2397Glu)
c.7180C>G (p.Gln2394Glu)
c.7195C>G (p.Gln2399Glu)
c.1492C>G (p.Gln498Glu)
Xg.31774184G>TCA412659186DMDc.2164C>A (p.Gln722Lys)
c.-63C>A (n.-63C>A)
n.979C>A
n.901C>A
n.810C>A
c.7318C>A (p.Gln2440Lys)
c.3286C>A (p.Gln1096Lys)
c.307C>A (p.Gln103Lys)
c.406C>A (p.Gln136Lys)
c.7306C>A (p.Gln2436Lys)
c.75C>A (p.Leu25=)
c.7303C>A (p.Gln2435Lys)
c.7315C>A (p.Gln2439Lys)
c.7294C>A (p.Gln2432Lys)
c.6949C>A (p.Gln2317Lys)
c.3295C>A (p.Gln1099Lys)
c.7189C>A (p.Gln2397Lys)
c.7180C>A (p.Gln2394Lys)
c.7195C>A (p.Gln2399Lys)
c.1492C>A (p.Gln498Lys)
Xg.31774185A>CCA515859437DMDc.2163T>G (p.Thr721=)
c.-64T>G (n.-64T>G)
n.978T>G
n.900T>G
n.809T>G
c.7317T>G (p.Thr2439=)
c.3285T>G (p.Thr1095=)
c.306T>G (p.Thr102=)
c.405T>G (p.Thr135=)
c.7305T>G (p.Thr2435=)
c.74T>G (p.Leu25Arg)
c.7302T>G (p.Thr2434=)
c.7314T>G (p.Thr2438=)
c.7293T>G (p.Thr2431=)
c.6948T>G (p.Thr2316=)
c.3294T>G (p.Thr1098=)
c.7188T>G (p.Thr2396=)
c.7179T>G (p.Thr2393=)
c.7194T>G (p.Thr2398=)
c.1491T>G (p.Thr497=)
Xg.31774185A>GCA515859439DMDc.2163T>C (p.Thr721=)
c.-64T>C (n.-64T>C)
n.978T>C
n.900T>C
n.809T>C
c.7317T>C (p.Thr2439=)
c.3285T>C (p.Thr1095=)
c.306T>C (p.Thr102=)
c.405T>C (p.Thr135=)
c.7305T>C (p.Thr2435=)
c.74T>C (p.Leu25Pro)
c.7302T>C (p.Thr2434=)
c.7314T>C (p.Thr2438=)
c.7293T>C (p.Thr2431=)
c.6948T>C (p.Thr2316=)
c.3294T>C (p.Thr1098=)
c.7188T>C (p.Thr2396=)
c.7179T>C (p.Thr2393=)
c.7194T>C (p.Thr2398=)
c.1491T>C (p.Thr497=)
Xg.31774185A>TCA515859438DMDc.2163T>A (p.Thr721=)
c.-64T>A (n.-64T>A)
n.978T>A
n.900T>A
n.809T>A
c.7317T>A (p.Thr2439=)
c.3285T>A (p.Thr1095=)
c.306T>A (p.Thr102=)
c.405T>A (p.Thr135=)
c.7305T>A (p.Thr2435=)
c.74T>A (p.Leu25His)
c.7302T>A (p.Thr2434=)
c.7314T>A (p.Thr2438=)
c.7293T>A (p.Thr2431=)
c.6948T>A (p.Thr2316=)
c.3294T>A (p.Thr1098=)
c.7188T>A (p.Thr2396=)
c.7179T>A (p.Thr2393=)
c.7194T>A (p.Thr2398=)
c.1491T>A (p.Thr497=)
Xg.31774186G>ACA328470496DMDc.2162C>T (p.Thr721Ile)
c.-65C>T (n.-65C>T)
n.977C>T
n.899C>T
n.808C>T
c.7316C>T (p.Thr2439Ile)
c.3284C>T (p.Thr1095Ile)
c.305C>T (p.Thr102Ile)
c.404C>T (p.Thr135Ile)
c.7304C>T (p.Thr2435Ile)
c.73C>T (p.Leu25Phe)
c.7301C>T (p.Thr2434Ile)
c.7313C>T (p.Thr2438Ile)
c.7292C>T (p.Thr2431Ile)
c.6947C>T (p.Thr2316Ile)
c.3293C>T (p.Thr1098Ile)
c.7187C>T (p.Thr2396Ile)
c.7178C>T (p.Thr2393Ile)
c.7193C>T (p.Thr2398Ile)
c.1490C>T (p.Thr497Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774186G>CCA412659187DMDc.2162C>G (p.Thr721Ser)
c.-65C>G (n.-65C>G)
n.977C>G
n.899C>G
n.808C>G
c.7316C>G (p.Thr2439Ser)
c.3284C>G (p.Thr1095Ser)
c.305C>G (p.Thr102Ser)
c.404C>G (p.Thr135Ser)
c.7304C>G (p.Thr2435Ser)
c.73C>G (p.Leu25Val)
c.7301C>G (p.Thr2434Ser)
c.7313C>G (p.Thr2438Ser)
c.7292C>G (p.Thr2431Ser)
c.6947C>G (p.Thr2316Ser)
c.3293C>G (p.Thr1098Ser)
c.7187C>G (p.Thr2396Ser)
c.7178C>G (p.Thr2393Ser)
c.7193C>G (p.Thr2398Ser)
c.1490C>G (p.Thr497Ser)
Xg.31774186G=CA2422548682DMDc.2162C= (p.Thr721=)
c.-65C= (n.-65C=)
n.977C=
n.899C=
n.808C=
c.7316C= (p.Thr2439=)
c.3284C= (p.Thr1095=)
c.305C= (p.Thr102=)
c.404C= (p.Thr135=)
c.7304C= (p.Thr2435=)
c.73C= (p.Leu25=)
c.7301C= (p.Thr2434=)
c.7313C= (p.Thr2438=)
c.7292C= (p.Thr2431=)
c.6947C= (p.Thr2316=)
c.3293C= (p.Thr1098=)
c.7187C= (p.Thr2396=)
c.7178C= (p.Thr2393=)
c.7193C= (p.Thr2398=)
c.1490C= (p.Thr497=)
Xg.31774186G>TCA412659188DMDc.2162C>A (p.Thr721Asn)
c.-65C>A (n.-65C>A)
n.977C>A
n.899C>A
n.808C>A
c.7316C>A (p.Thr2439Asn)
c.3284C>A (p.Thr1095Asn)
c.305C>A (p.Thr102Asn)
c.404C>A (p.Thr135Asn)
c.7304C>A (p.Thr2435Asn)
c.73C>A (p.Leu25Ile)
c.7301C>A (p.Thr2434Asn)
c.7313C>A (p.Thr2438Asn)
c.7292C>A (p.Thr2431Asn)
c.6947C>A (p.Thr2316Asn)
c.3293C>A (p.Thr1098Asn)
c.7187C>A (p.Thr2396Asn)
c.7178C>A (p.Thr2393Asn)
c.7193C>A (p.Thr2398Asn)
c.1490C>A (p.Thr497Asn)
Xg.31774187T>ACA412659191DMDc.2161A>T (p.Thr721Ser)
c.-66A>T (n.-66A>T)
n.976A>T
n.898A>T
n.807A>T
c.7315A>T (p.Thr2439Ser)
c.3283A>T (p.Thr1095Ser)
c.304A>T (p.Thr102Ser)
c.403A>T (p.Thr135Ser)
c.7303A>T (p.Thr2435Ser)
c.72A>T (p.Leu24=)
c.7300A>T (p.Thr2434Ser)
c.7312A>T (p.Thr2438Ser)
c.7291A>T (p.Thr2431Ser)
c.6946A>T (p.Thr2316Ser)
c.3292A>T (p.Thr1098Ser)
c.7186A>T (p.Thr2396Ser)
c.7177A>T (p.Thr2393Ser)
c.7192A>T (p.Thr2398Ser)
c.1489A>T (p.Thr497Ser)
Xg.31774187T>CCA412659190DMDc.2161A>G (p.Thr721Ala)
c.-66A>G (n.-66A>G)
n.976A>G
n.898A>G
n.807A>G
c.7315A>G (p.Thr2439Ala)
c.3283A>G (p.Thr1095Ala)
c.304A>G (p.Thr102Ala)
c.403A>G (p.Thr135Ala)
c.7303A>G (p.Thr2435Ala)
c.72A>G (p.Leu24=)
c.7300A>G (p.Thr2434Ala)
c.7312A>G (p.Thr2438Ala)
c.7291A>G (p.Thr2431Ala)
c.6946A>G (p.Thr2316Ala)
c.3292A>G (p.Thr1098Ala)
c.7186A>G (p.Thr2396Ala)
c.7177A>G (p.Thr2393Ala)
c.7192A>G (p.Thr2398Ala)
c.1489A>G (p.Thr497Ala)
Xg.31774187T>GCA412659189DMDc.2161A>C (p.Thr721Pro)
c.-66A>C (n.-66A>C)
n.976A>C
n.898A>C
n.807A>C
c.7315A>C (p.Thr2439Pro)
c.3283A>C (p.Thr1095Pro)
c.304A>C (p.Thr102Pro)
c.403A>C (p.Thr135Pro)
c.7303A>C (p.Thr2435Pro)
c.72A>C (p.Leu24=)
c.7300A>C (p.Thr2434Pro)
c.7312A>C (p.Thr2438Pro)
c.7291A>C (p.Thr2431Pro)
c.6946A>C (p.Thr2316Pro)
c.3292A>C (p.Thr1098Pro)
c.7186A>C (p.Thr2396Pro)
c.7177A>C (p.Thr2393Pro)
c.7192A>C (p.Thr2398Pro)
c.1489A>C (p.Thr497Pro)
Xg.31774188A=CA2422548683DMDc.2160T= (p.Pro720=)
c.-67T= (n.-67T=)
n.975T=
n.897T=
n.806T=
c.7314T= (p.Pro2438=)
c.3282T= (p.Pro1094=)
c.303T= (p.Pro101=)
c.402T= (p.Pro134=)
c.7302T= (p.Pro2434=)
c.71T= (p.Leu24=)
c.7299T= (p.Pro2433=)
c.7311T= (p.Pro2437=)
c.7290T= (p.Pro2430=)
c.6945T= (p.Pro2315=)
c.3291T= (p.Pro1097=)
c.7185T= (p.Pro2395=)
c.7176T= (p.Pro2392=)
c.7191T= (p.Pro2397=)
c.1488T= (p.Pro496=)
Xg.31774188A>CCA515859440DMDc.2160T>G (p.Pro720=)
c.-67T>G (n.-67T>G)
n.975T>G
n.897T>G
n.806T>G
c.7314T>G (p.Pro2438=)
c.3282T>G (p.Pro1094=)
c.303T>G (p.Pro101=)
c.402T>G (p.Pro134=)
c.7302T>G (p.Pro2434=)
c.71T>G (p.Leu24Arg)
c.7299T>G (p.Pro2433=)
c.7311T>G (p.Pro2437=)
c.7290T>G (p.Pro2430=)
c.6945T>G (p.Pro2315=)
c.3291T>G (p.Pro1097=)
c.7185T>G (p.Pro2395=)
c.7176T>G (p.Pro2392=)
c.7191T>G (p.Pro2397=)
c.1488T>G (p.Pro496=)
 ClinVar dbSNP
Xg.31774188A>GCA515859441DMDc.2160T>C (p.Pro720=)
c.-67T>C (n.-67T>C)
n.975T>C
n.897T>C
n.806T>C
c.7314T>C (p.Pro2438=)
c.3282T>C (p.Pro1094=)
c.303T>C (p.Pro101=)
c.402T>C (p.Pro134=)
c.7302T>C (p.Pro2434=)
c.71T>C (p.Leu24Pro)
c.7299T>C (p.Pro2433=)
c.7311T>C (p.Pro2437=)
c.7290T>C (p.Pro2430=)
c.6945T>C (p.Pro2315=)
c.3291T>C (p.Pro1097=)
c.7185T>C (p.Pro2395=)
c.7176T>C (p.Pro2392=)
c.7191T>C (p.Pro2397=)
c.1488T>C (p.Pro496=)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774188A>TCA515859442DMDc.2160T>A (p.Pro720=)
c.-67T>A (n.-67T>A)
n.975T>A
n.897T>A
n.806T>A
c.7314T>A (p.Pro2438=)
c.3282T>A (p.Pro1094=)
c.303T>A (p.Pro101=)
c.402T>A (p.Pro134=)
c.7302T>A (p.Pro2434=)
c.71T>A (p.Leu24Gln)
c.7299T>A (p.Pro2433=)
c.7311T>A (p.Pro2437=)
c.7290T>A (p.Pro2430=)
c.6945T>A (p.Pro2315=)
c.3291T>A (p.Pro1097=)
c.7185T>A (p.Pro2395=)
c.7176T>A (p.Pro2392=)
c.7191T>A (p.Pro2397=)
c.1488T>A (p.Pro496=)
Xg.31774189G>ACA412659192DMDc.2159C>T (p.Pro720Leu)
c.-68C>T (n.-68C>T)
n.974C>T
n.896C>T
n.805C>T
c.7313C>T (p.Pro2438Leu)
c.3281C>T (p.Pro1094Leu)
c.302C>T (p.Pro101Leu)
c.401C>T (p.Pro134Leu)
c.7301C>T (p.Pro2434Leu)
c.70C>T (p.Leu24=)
c.7298C>T (p.Pro2433Leu)
c.7310C>T (p.Pro2437Leu)
c.7289C>T (p.Pro2430Leu)
c.6944C>T (p.Pro2315Leu)
c.3290C>T (p.Pro1097Leu)
c.7184C>T (p.Pro2395Leu)
c.7175C>T (p.Pro2392Leu)
c.7190C>T (p.Pro2397Leu)
c.1487C>T (p.Pro496Leu)
Xg.31774189G>CCA412659193DMDc.2159C>G (p.Pro720Arg)
c.-68C>G (n.-68C>G)
n.974C>G
n.896C>G
n.805C>G
c.7313C>G (p.Pro2438Arg)
c.3281C>G (p.Pro1094Arg)
c.302C>G (p.Pro101Arg)
c.401C>G (p.Pro134Arg)
c.7301C>G (p.Pro2434Arg)
c.70C>G (p.Leu24Val)
c.7298C>G (p.Pro2433Arg)
c.7310C>G (p.Pro2437Arg)
c.7289C>G (p.Pro2430Arg)
c.6944C>G (p.Pro2315Arg)
c.3290C>G (p.Pro1097Arg)
c.7184C>G (p.Pro2395Arg)
c.7175C>G (p.Pro2392Arg)
c.7190C>G (p.Pro2397Arg)
c.1487C>G (p.Pro496Arg)
Xg.31774189G>TCA412659194DMDc.2159C>A (p.Pro720His)
c.-68C>A (n.-68C>A)
n.974C>A
n.896C>A
n.805C>A
c.7313C>A (p.Pro2438His)
c.3281C>A (p.Pro1094His)
c.302C>A (p.Pro101His)
c.401C>A (p.Pro134His)
c.7301C>A (p.Pro2434His)
c.70C>A (p.Leu24Ile)
c.7298C>A (p.Pro2433His)
c.7310C>A (p.Pro2437His)
c.7289C>A (p.Pro2430His)
c.6944C>A (p.Pro2315His)
c.3290C>A (p.Pro1097His)
c.7184C>A (p.Pro2395His)
c.7175C>A (p.Pro2392His)
c.7190C>A (p.Pro2397His)
c.1487C>A (p.Pro496His)
Xg.31774190G>ACA412659195DMDc.2158C>T (p.Pro720Ser)
c.-69C>T (n.-69C>T)
n.973C>T
n.895C>T
n.804C>T
c.7312C>T (p.Pro2438Ser)
c.3280C>T (p.Pro1094Ser)
c.301C>T (p.Pro101Ser)
c.400C>T (p.Pro134Ser)
c.7300C>T (p.Pro2434Ser)
c.69C>T (p.Leu23=)
c.7297C>T (p.Pro2433Ser)
c.7309C>T (p.Pro2437Ser)
c.7288C>T (p.Pro2430Ser)
c.6943C>T (p.Pro2315Ser)
c.3289C>T (p.Pro1097Ser)
c.7183C>T (p.Pro2395Ser)
c.7174C>T (p.Pro2392Ser)
c.7189C>T (p.Pro2397Ser)
c.1486C>T (p.Pro496Ser)
Xg.31774190G>CCA412659196DMDc.2158C>G (p.Pro720Ala)
c.-69C>G (n.-69C>G)
n.973C>G
n.895C>G
n.804C>G
c.7312C>G (p.Pro2438Ala)
c.3280C>G (p.Pro1094Ala)
c.301C>G (p.Pro101Ala)
c.400C>G (p.Pro134Ala)
c.7300C>G (p.Pro2434Ala)
c.69C>G (p.Leu23=)
c.7297C>G (p.Pro2433Ala)
c.7309C>G (p.Pro2437Ala)
c.7288C>G (p.Pro2430Ala)
c.6943C>G (p.Pro2315Ala)
c.3289C>G (p.Pro1097Ala)
c.7183C>G (p.Pro2395Ala)
c.7174C>G (p.Pro2392Ala)
c.7189C>G (p.Pro2397Ala)
c.1486C>G (p.Pro496Ala)
 gnomAD v4
Xg.31774190G>TCA412659197DMDc.2158C>A (p.Pro720Thr)
c.-69C>A (n.-69C>A)
n.973C>A
n.895C>A
n.804C>A
c.7312C>A (p.Pro2438Thr)
c.3280C>A (p.Pro1094Thr)
c.301C>A (p.Pro101Thr)
c.400C>A (p.Pro134Thr)
c.7300C>A (p.Pro2434Thr)
c.69C>A (p.Leu23=)
c.7297C>A (p.Pro2433Thr)
c.7309C>A (p.Pro2437Thr)
c.7288C>A (p.Pro2430Thr)
c.6943C>A (p.Pro2315Thr)
c.3289C>A (p.Pro1097Thr)
c.7183C>A (p.Pro2395Thr)
c.7174C>A (p.Pro2392Thr)
c.7189C>A (p.Pro2397Thr)
c.1486C>A (p.Pro496Thr)
Xg.31774191A>CCA515859443DMDc.2157T>G (p.Ser719=)
c.-70T>G (n.-70T>G)
n.972T>G
n.894T>G
n.803T>G
c.7311T>G (p.Ser2437=)
c.3279T>G (p.Ser1093=)
c.300T>G (p.Ser100=)
c.399T>G (p.Ser133=)
c.7299T>G (p.Ser2433=)
c.68T>G (p.Leu23Arg)
c.7296T>G (p.Ser2432=)
c.7308T>G (p.Ser2436=)
c.7287T>G (p.Ser2429=)
c.6942T>G (p.Ser2314=)
c.3288T>G (p.Ser1096=)
c.7182T>G (p.Ser2394=)
c.7173T>G (p.Ser2391=)
c.7188T>G (p.Ser2396=)
c.1485T>G (p.Ser495=)
Xg.31774191A>GCA515859444DMDc.2157T>C (p.Ser719=)
c.-70T>C (n.-70T>C)
n.972T>C
n.894T>C
n.803T>C
c.7311T>C (p.Ser2437=)
c.3279T>C (p.Ser1093=)
c.300T>C (p.Ser100=)
c.399T>C (p.Ser133=)
c.7299T>C (p.Ser2433=)
c.68T>C (p.Leu23Pro)
c.7296T>C (p.Ser2432=)
c.7308T>C (p.Ser2436=)
c.7287T>C (p.Ser2429=)
c.6942T>C (p.Ser2314=)
c.3288T>C (p.Ser1096=)
c.7182T>C (p.Ser2394=)
c.7173T>C (p.Ser2391=)
c.7188T>C (p.Ser2396=)
c.1485T>C (p.Ser495=)
 gnomAD v4
Xg.31774191A>TCA515859445DMDc.2157T>A (p.Ser719=)
c.-70T>A (n.-70T>A)
n.972T>A
n.894T>A
n.803T>A
c.7311T>A (p.Ser2437=)
c.3279T>A (p.Ser1093=)
c.300T>A (p.Ser100=)
c.399T>A (p.Ser133=)
c.7299T>A (p.Ser2433=)
c.68T>A (p.Leu23His)
c.7296T>A (p.Ser2432=)
c.7308T>A (p.Ser2436=)
c.7287T>A (p.Ser2429=)
c.6942T>A (p.Ser2314=)
c.3288T>A (p.Ser1096=)
c.7182T>A (p.Ser2394=)
c.7173T>A (p.Ser2391=)
c.7188T>A (p.Ser2396=)
c.1485T>A (p.Ser495=)
Xg.31774192G>ACA412659198DMDc.2156C>T (p.Ser719Phe)
c.-71C>T (n.-71C>T)
n.971C>T
n.893C>T
n.802C>T
c.7310C>T (p.Ser2437Phe)
c.3278C>T (p.Ser1093Phe)
c.299C>T (p.Ser100Phe)
c.398C>T (p.Ser133Phe)
c.7298C>T (p.Ser2433Phe)
c.67C>T (p.Leu23Phe)
c.7295C>T (p.Ser2432Phe)
c.7307C>T (p.Ser2436Phe)
c.7286C>T (p.Ser2429Phe)
c.6941C>T (p.Ser2314Phe)
c.3287C>T (p.Ser1096Phe)
c.7181C>T (p.Ser2394Phe)
c.7172C>T (p.Ser2391Phe)
c.7187C>T (p.Ser2396Phe)
c.1484C>T (p.Ser495Phe)
Xg.31774192G>CCA412659199DMDc.2156C>G (p.Ser719Cys)
c.-71C>G (n.-71C>G)
n.971C>G
n.893C>G
n.802C>G
c.7310C>G (p.Ser2437Cys)
c.3278C>G (p.Ser1093Cys)
c.299C>G (p.Ser100Cys)
c.398C>G (p.Ser133Cys)
c.7298C>G (p.Ser2433Cys)
c.67C>G (p.Leu23Val)
c.7295C>G (p.Ser2432Cys)
c.7307C>G (p.Ser2436Cys)
c.7286C>G (p.Ser2429Cys)
c.6941C>G (p.Ser2314Cys)
c.3287C>G (p.Ser1096Cys)
c.7181C>G (p.Ser2394Cys)
c.7172C>G (p.Ser2391Cys)
c.7187C>G (p.Ser2396Cys)
c.1484C>G (p.Ser495Cys)
Xg.31774192G>TCA412659200DMDc.2156C>A (p.Ser719Tyr)
c.-71C>A (n.-71C>A)
n.971C>A
n.893C>A
n.802C>A
c.7310C>A (p.Ser2437Tyr)
c.3278C>A (p.Ser1093Tyr)
c.299C>A (p.Ser100Tyr)
c.398C>A (p.Ser133Tyr)
c.7298C>A (p.Ser2433Tyr)
c.67C>A (p.Leu23Ile)
c.7295C>A (p.Ser2432Tyr)
c.7307C>A (p.Ser2436Tyr)
c.7286C>A (p.Ser2429Tyr)
c.6941C>A (p.Ser2314Tyr)
c.3287C>A (p.Ser1096Tyr)
c.7181C>A (p.Ser2394Tyr)
c.7172C>A (p.Ser2391Tyr)
c.7187C>A (p.Ser2396Tyr)
c.1484C>A (p.Ser495Tyr)
Xg.31774193C>ACA412659201DMDc.2156-1G>T (n.2156-1G>T)
c.-71-1G>T (n.-71-1G>T)
n.971-1G>T
n.893-1G>T
n.802-1G>T
c.7310-1G>T (n.7310-1G>T)
c.3278-1G>T (n.3278-1G>T)
c.299-1G>T (n.299-1G>T)
c.398-1G>T (n.398-1G>T)
c.7298-1G>T (n.7298-1G>T)
c.67-1G>T (n.67-1G>T)
c.7295-1G>T (n.7295-1G>T)
c.7307-1G>T (n.7307-1G>T)
c.7286-1G>T (n.7286-1G>T)
c.6941-1G>T (n.6941-1G>T)
c.3287-1G>T (n.3287-1G>T)
c.7181-1G>T (n.7181-1G>T)
c.7172-1G>T (n.7172-1G>T)
c.7187-1G>T (n.7187-1G>T)
c.1484-1G>T (n.1484-1G>T)
Xg.31774193C=CA2422548684DMDc.2156-1G= (n.2156-1G=)
c.-71-1G= (n.-71-1G=)
n.971-1G=
n.893-1G=
n.802-1G=
c.7310-1G= (n.7310-1G=)
c.3278-1G= (n.3278-1G=)
c.299-1G= (n.299-1G=)
c.398-1G= (n.398-1G=)
c.7298-1G= (n.7298-1G=)
c.67-1G= (n.67-1G=)
c.7295-1G= (n.7295-1G=)
c.7307-1G= (n.7307-1G=)
c.7286-1G= (n.7286-1G=)
c.6941-1G= (n.6941-1G=)
c.3287-1G= (n.3287-1G=)
c.7181-1G= (n.7181-1G=)
c.7172-1G= (n.7172-1G=)
c.7187-1G= (n.7187-1G=)
c.1484-1G= (n.1484-1G=)
Xg.31774193C>GCA412659202DMDc.2156-1G>C (n.2156-1G>C)
c.-71-1G>C (n.-71-1G>C)
n.971-1G>C
n.893-1G>C
n.802-1G>C
c.7310-1G>C (n.7310-1G>C)
c.3278-1G>C (n.3278-1G>C)
c.299-1G>C (n.299-1G>C)
c.398-1G>C (n.398-1G>C)
c.7298-1G>C (n.7298-1G>C)
c.67-1G>C (n.67-1G>C)
c.7295-1G>C (n.7295-1G>C)
c.7307-1G>C (n.7307-1G>C)
c.7286-1G>C (n.7286-1G>C)
c.6941-1G>C (n.6941-1G>C)
c.3287-1G>C (n.3287-1G>C)
c.7181-1G>C (n.7181-1G>C)
c.7172-1G>C (n.7172-1G>C)
c.7187-1G>C (n.7187-1G>C)
c.1484-1G>C (n.1484-1G>C)
Xg.31774193C>TCA412659203DMDc.2156-1G>A (n.2156-1G>A)
c.-71-1G>A (n.-71-1G>A)
n.971-1G>A
n.893-1G>A
n.802-1G>A
c.7310-1G>A (n.7310-1G>A)
c.3278-1G>A (n.3278-1G>A)
c.299-1G>A (n.299-1G>A)
c.398-1G>A (n.398-1G>A)
c.7298-1G>A (n.7298-1G>A)
c.67-1G>A (n.67-1G>A)
c.7295-1G>A (n.7295-1G>A)
c.7307-1G>A (n.7307-1G>A)
c.7286-1G>A (n.7286-1G>A)
c.6941-1G>A (n.6941-1G>A)
c.3287-1G>A (n.3287-1G>A)
c.7181-1G>A (n.7181-1G>A)
c.7172-1G>A (n.7172-1G>A)
c.7187-1G>A (n.7187-1G>A)
c.1484-1G>A (n.1484-1G>A)
 ClinVar dbSNP
Xg.31774194T>ACA412659206DMDc.2156-2A>T (n.2156-2A>T)
c.-71-2A>T (n.-71-2A>T)
n.971-2A>T
n.893-2A>T
n.802-2A>T
c.7310-2A>T (n.7310-2A>T)
c.3278-2A>T (n.3278-2A>T)
c.299-2A>T (n.299-2A>T)
c.398-2A>T (n.398-2A>T)
c.7298-2A>T (n.7298-2A>T)
c.67-2A>T (n.67-2A>T)
c.7295-2A>T (n.7295-2A>T)
c.7307-2A>T (n.7307-2A>T)
c.7286-2A>T (n.7286-2A>T)
c.6941-2A>T (n.6941-2A>T)
c.3287-2A>T (n.3287-2A>T)
c.7181-2A>T (n.7181-2A>T)
c.7172-2A>T (n.7172-2A>T)
c.7187-2A>T (n.7187-2A>T)
c.1484-2A>T (n.1484-2A>T)
Xg.31774194T>CCA412659205DMDc.2156-2A>G (n.2156-2A>G)
c.-71-2A>G (n.-71-2A>G)
n.971-2A>G
n.893-2A>G
n.802-2A>G
c.7310-2A>G (n.7310-2A>G)
c.3278-2A>G (n.3278-2A>G)
c.299-2A>G (n.299-2A>G)
c.398-2A>G (n.398-2A>G)
c.7298-2A>G (n.7298-2A>G)
c.67-2A>G (n.67-2A>G)
c.7295-2A>G (n.7295-2A>G)
c.7307-2A>G (n.7307-2A>G)
c.7286-2A>G (n.7286-2A>G)
c.6941-2A>G (n.6941-2A>G)
c.3287-2A>G (n.3287-2A>G)
c.7181-2A>G (n.7181-2A>G)
c.7172-2A>G (n.7172-2A>G)
c.7187-2A>G (n.7187-2A>G)
c.1484-2A>G (n.1484-2A>G)
 ClinVar
Xg.31774194T>GCA412659204DMDc.2156-2A>C (n.2156-2A>C)
c.-71-2A>C (n.-71-2A>C)
n.971-2A>C
n.893-2A>C
n.802-2A>C
c.7310-2A>C (n.7310-2A>C)
c.3278-2A>C (n.3278-2A>C)
c.299-2A>C (n.299-2A>C)
c.398-2A>C (n.398-2A>C)
c.7298-2A>C (n.7298-2A>C)
c.67-2A>C (n.67-2A>C)
c.7295-2A>C (n.7295-2A>C)
c.7307-2A>C (n.7307-2A>C)
c.7286-2A>C (n.7286-2A>C)
c.6941-2A>C (n.6941-2A>C)
c.3287-2A>C (n.3287-2A>C)
c.7181-2A>C (n.7181-2A>C)
c.7172-2A>C (n.7172-2A>C)
c.7187-2A>C (n.7187-2A>C)
c.1484-2A>C (n.1484-2A>C)
Xg.31774195A>GCA2693390352DMDc.2156-3T>C (n.2156-3T>C)
c.-71-3T>C (n.-71-3T>C)
n.971-3T>C
n.893-3T>C
n.802-3T>C
c.7310-3T>C (n.7310-3T>C)
c.3278-3T>C (n.3278-3T>C)
c.299-3T>C (n.299-3T>C)
c.398-3T>C (n.398-3T>C)
c.7298-3T>C (n.7298-3T>C)
c.67-3T>C (n.67-3T>C)
c.7295-3T>C (n.7295-3T>C)
c.7307-3T>C (n.7307-3T>C)
c.7286-3T>C (n.7286-3T>C)
c.6941-3T>C (n.6941-3T>C)
c.3287-3T>C (n.3287-3T>C)
c.7181-3T>C (n.7181-3T>C)
c.7172-3T>C (n.7172-3T>C)
c.7187-3T>C (n.7187-3T>C)
c.1484-3T>C (n.1484-3T>C)
 gnomAD v4
Xg.31774198delCA2579579136DMDc.2156-3del (n.2156-3del)
c.-71-3del (n.-71-3del)
n.971-3del
n.893-3del
n.802-3del
c.7310-3del (n.7310-3del)
c.3278-3del (n.3278-3del)
c.299-3del (n.299-3del)
c.398-3del (n.398-3del)
c.7298-3del (n.7298-3del)
c.67-3del (n.67-3del)
c.7295-3del (n.7295-3del)
c.7307-3del (n.7307-3del)
c.7286-3del (n.7286-3del)
c.6941-3del (n.6941-3del)
c.3287-3del (n.3287-3del)
c.7181-3del (n.7181-3del)
c.7172-3del (n.7172-3del)
c.7187-3del (n.7187-3del)
c.1484-3del (n.1484-3del)
Xg.31774196A>CCA2739268134DMDc.2156-4T>G (n.2156-4T>G)
c.-71-4T>G (n.-71-4T>G)
n.971-4T>G
n.893-4T>G
n.802-4T>G
c.7310-4T>G (n.7310-4T>G)
c.3278-4T>G (n.3278-4T>G)
c.299-4T>G (n.299-4T>G)
c.398-4T>G (n.398-4T>G)
c.7298-4T>G (n.7298-4T>G)
c.67-4T>G (n.67-4T>G)
c.7295-4T>G (n.7295-4T>G)
c.7307-4T>G (n.7307-4T>G)
c.7286-4T>G (n.7286-4T>G)
c.6941-4T>G (n.6941-4T>G)
c.3287-4T>G (n.3287-4T>G)
c.7181-4T>G (n.7181-4T>G)
c.7172-4T>G (n.7172-4T>G)
c.7187-4T>G (n.7187-4T>G)
c.1484-4T>G (n.1484-4T>G)
 ClinVar
Xg.31774197A=CA2422548685DMDc.2156-5T= (n.2156-5T=)
c.-71-5T= (n.-71-5T=)
n.971-5T=
n.893-5T=
n.802-5T=
c.7310-5T= (n.7310-5T=)
c.3278-5T= (n.3278-5T=)
c.299-5T= (n.299-5T=)
c.398-5T= (n.398-5T=)
c.7298-5T= (n.7298-5T=)
c.67-5T= (n.67-5T=)
c.7295-5T= (n.7295-5T=)
c.7307-5T= (n.7307-5T=)
c.7286-5T= (n.7286-5T=)
c.6941-5T= (n.6941-5T=)
c.3287-5T= (n.3287-5T=)
c.7181-5T= (n.7181-5T=)
c.7172-5T= (n.7172-5T=)
c.7187-5T= (n.7187-5T=)
c.1484-5T= (n.1484-5T=)
Xg.31774197A>CCA916081253DMDc.2156-5T>G (n.2156-5T>G)
c.-71-5T>G (n.-71-5T>G)
n.971-5T>G
n.893-5T>G
n.802-5T>G
c.7310-5T>G (n.7310-5T>G)
c.3278-5T>G (n.3278-5T>G)
c.299-5T>G (n.299-5T>G)
c.398-5T>G (n.398-5T>G)
c.7298-5T>G (n.7298-5T>G)
c.67-5T>G (n.67-5T>G)
c.7295-5T>G (n.7295-5T>G)
c.7307-5T>G (n.7307-5T>G)
c.7286-5T>G (n.7286-5T>G)
c.6941-5T>G (n.6941-5T>G)
c.3287-5T>G (n.3287-5T>G)
c.7181-5T>G (n.7181-5T>G)
c.7172-5T>G (n.7172-5T>G)
c.7187-5T>G (n.7187-5T>G)
c.1484-5T>G (n.1484-5T>G)
 ClinVar dbSNP gnomAD v4
Xg.31774199T>CCA10378290DMDc.2156-7A>G (n.2156-7A>G)
c.-71-7A>G (n.-71-7A>G)
n.971-7A>G
n.893-7A>G
n.802-7A>G
c.7310-7A>G (n.7310-7A>G)
c.3278-7A>G (n.3278-7A>G)
c.299-7A>G (n.299-7A>G)
c.398-7A>G (n.398-7A>G)
c.7298-7A>G (n.7298-7A>G)
c.67-7A>G (n.67-7A>G)
c.7295-7A>G (n.7295-7A>G)
c.7307-7A>G (n.7307-7A>G)
c.7286-7A>G (n.7286-7A>G)
c.6941-7A>G (n.6941-7A>G)
c.3287-7A>G (n.3287-7A>G)
c.7181-7A>G (n.7181-7A>G)
c.7172-7A>G (n.7172-7A>G)
c.7187-7A>G (n.7187-7A>G)
c.1484-7A>G (n.1484-7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774199T=CA2422548686DMDc.2156-7A= (n.2156-7A=)
c.-71-7A= (n.-71-7A=)
n.971-7A=
n.893-7A=
n.802-7A=
c.7310-7A= (n.7310-7A=)
c.3278-7A= (n.3278-7A=)
c.299-7A= (n.299-7A=)
c.398-7A= (n.398-7A=)
c.7298-7A= (n.7298-7A=)
c.67-7A= (n.67-7A=)
c.7295-7A= (n.7295-7A=)
c.7307-7A= (n.7307-7A=)
c.7286-7A= (n.7286-7A=)
c.6941-7A= (n.6941-7A=)
c.3287-7A= (n.3287-7A=)
c.7181-7A= (n.7181-7A=)
c.7172-7A= (n.7172-7A=)
c.7187-7A= (n.7187-7A=)
c.1484-7A= (n.1484-7A=)
Xg.31774200A>TCA2697552933DMDc.2156-8T>A (n.2156-8T>A)
c.-71-8T>A (n.-71-8T>A)
n.971-8T>A
n.893-8T>A
n.802-8T>A
c.7310-8T>A (n.7310-8T>A)
c.3278-8T>A (n.3278-8T>A)
c.299-8T>A (n.299-8T>A)
c.398-8T>A (n.398-8T>A)
c.7298-8T>A (n.7298-8T>A)
c.67-8T>A (n.67-8T>A)
c.7295-8T>A (n.7295-8T>A)
c.7307-8T>A (n.7307-8T>A)
c.7286-8T>A (n.7286-8T>A)
c.6941-8T>A (n.6941-8T>A)
c.3287-8T>A (n.3287-8T>A)
c.7181-8T>A (n.7181-8T>A)
c.7172-8T>A (n.7172-8T>A)
c.7187-8T>A (n.7187-8T>A)
c.1484-8T>A (n.1484-8T>A)
 ClinVar
Xg.31774204delCA2579579138DMDc.2156-9del (n.2156-9del)
c.-71-9del (n.-71-9del)
n.971-9del
n.893-9del
n.802-9del
c.7310-9del (n.7310-9del)
c.3278-9del (n.3278-9del)
c.299-9del (n.299-9del)
c.398-9del (n.398-9del)
c.7298-9del (n.7298-9del)
c.67-9del (n.67-9del)
c.7295-9del (n.7295-9del)
c.7307-9del (n.7307-9del)
c.7286-9del (n.7286-9del)
c.6941-9del (n.6941-9del)
c.3287-9del (n.3287-9del)
c.7181-9del (n.7181-9del)
c.7172-9del (n.7172-9del)
c.7187-9del (n.7187-9del)
c.1484-9del (n.1484-9del)
Xg.31774204T>CCA874637892DMDc.2156-12A>G (n.2156-12A>G)
c.-71-12A>G (n.-71-12A>G)
n.971-12A>G
n.893-12A>G
n.802-12A>G
c.7310-12A>G (n.7310-12A>G)
c.3278-12A>G (n.3278-12A>G)
c.299-12A>G (n.299-12A>G)
c.398-12A>G (n.398-12A>G)
c.7298-12A>G (n.7298-12A>G)
c.67-12A>G (n.67-12A>G)
c.7295-12A>G (n.7295-12A>G)
c.7307-12A>G (n.7307-12A>G)
c.7286-12A>G (n.7286-12A>G)
c.6941-12A>G (n.6941-12A>G)
c.3287-12A>G (n.3287-12A>G)
c.7181-12A>G (n.7181-12A>G)
c.7172-12A>G (n.7172-12A>G)
c.7187-12A>G (n.7187-12A>G)
c.1484-12A>G (n.1484-12A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31774204T=CA2422548687DMDc.2156-12A= (n.2156-12A=)
c.-71-12A= (n.-71-12A=)
n.971-12A=
n.893-12A=
n.802-12A=
c.7310-12A= (n.7310-12A=)
c.3278-12A= (n.3278-12A=)
c.299-12A= (n.299-12A=)
c.398-12A= (n.398-12A=)
c.7298-12A= (n.7298-12A=)
c.67-12A= (n.67-12A=)
c.7295-12A= (n.7295-12A=)
c.7307-12A= (n.7307-12A=)
c.7286-12A= (n.7286-12A=)
c.6941-12A= (n.6941-12A=)
c.3287-12A= (n.3287-12A=)
c.7181-12A= (n.7181-12A=)
c.7172-12A= (n.7172-12A=)
c.7187-12A= (n.7187-12A=)
c.1484-12A= (n.1484-12A=)
Xg.31774204_31774214delCA1132108716DMDc.2156-22_2156-12del (n.2156-22_2156-12del)
c.-71-22_-71-12del (n.-71-22_-71-12del)
n.971-22_971-12del
n.893-22_893-12del
n.802-22_802-12del
c.7310-22_7310-12del (n.7310-22_7310-12del)
c.3278-22_3278-12del (n.3278-22_3278-12del)
c.299-22_299-12del (n.299-22_299-12del)
c.398-22_398-12del (n.398-22_398-12del)
c.7298-22_7298-12del (n.7298-22_7298-12del)
c.67-22_67-12del (n.67-22_67-12del)
c.7295-22_7295-12del (n.7295-22_7295-12del)
c.7307-22_7307-12del (n.7307-22_7307-12del)
c.7286-22_7286-12del (n.7286-22_7286-12del)
c.6941-22_6941-12del (n.6941-22_6941-12del)
c.3287-22_3287-12del (n.3287-22_3287-12del)
c.7181-22_7181-12del (n.7181-22_7181-12del)
c.7172-22_7172-12del (n.7172-22_7172-12del)
c.7187-22_7187-12del (n.7187-22_7187-12del)
c.1484-22_1484-12del (n.1484-22_1484-12del)
Xg.31774205G>TCA2738515704DMDc.2156-13C>A (n.2156-13C>A)
c.-71-13C>A (n.-71-13C>A)
n.971-13C>A
n.893-13C>A
n.802-13C>A
c.7310-13C>A (n.7310-13C>A)
c.3278-13C>A (n.3278-13C>A)
c.299-13C>A (n.299-13C>A)
c.398-13C>A (n.398-13C>A)
c.7298-13C>A (n.7298-13C>A)
c.67-13C>A (n.67-13C>A)
c.7295-13C>A (n.7295-13C>A)
c.7307-13C>A (n.7307-13C>A)
c.7286-13C>A (n.7286-13C>A)
c.6941-13C>A (n.6941-13C>A)
c.3287-13C>A (n.3287-13C>A)
c.7181-13C>A (n.7181-13C>A)
c.7172-13C>A (n.7172-13C>A)
c.7187-13C>A (n.7187-13C>A)
c.1484-13C>A (n.1484-13C>A)
 dbSNP
Xg.31774206G>CCA2579579140DMDc.2156-14C>G (n.2156-14C>G)
c.-71-14C>G (n.-71-14C>G)
n.971-14C>G
n.893-14C>G
n.802-14C>G
c.7310-14C>G (n.7310-14C>G)
c.3278-14C>G (n.3278-14C>G)
c.299-14C>G (n.299-14C>G)
c.398-14C>G (n.398-14C>G)
c.7298-14C>G (n.7298-14C>G)
c.67-14C>G (n.67-14C>G)
c.7295-14C>G (n.7295-14C>G)
c.7307-14C>G (n.7307-14C>G)
c.7286-14C>G (n.7286-14C>G)
c.6941-14C>G (n.6941-14C>G)
c.3287-14C>G (n.3287-14C>G)
c.7181-14C>G (n.7181-14C>G)
c.7172-14C>G (n.7172-14C>G)
c.7187-14C>G (n.7187-14C>G)
c.1484-14C>G (n.1484-14C>G)
Xg.31774206G>TCA2693390353DMDc.2156-14C>A (n.2156-14C>A)
c.-71-14C>A (n.-71-14C>A)
n.971-14C>A
n.893-14C>A
n.802-14C>A
c.7310-14C>A (n.7310-14C>A)
c.3278-14C>A (n.3278-14C>A)
c.299-14C>A (n.299-14C>A)
c.398-14C>A (n.398-14C>A)
c.7298-14C>A (n.7298-14C>A)
c.67-14C>A (n.67-14C>A)
c.7295-14C>A (n.7295-14C>A)
c.7307-14C>A (n.7307-14C>A)
c.7286-14C>A (n.7286-14C>A)
c.6941-14C>A (n.6941-14C>A)
c.3287-14C>A (n.3287-14C>A)
c.7181-14C>A (n.7181-14C>A)
c.7172-14C>A (n.7172-14C>A)
c.7187-14C>A (n.7187-14C>A)
c.1484-14C>A (n.1484-14C>A)
 gnomAD v4
Xg.31774207G>ACA2693390354DMDc.2156-15C>T (n.2156-15C>T)
c.-71-15C>T (n.-71-15C>T)
n.971-15C>T
n.893-15C>T
n.802-15C>T
c.7310-15C>T (n.7310-15C>T)
c.3278-15C>T (n.3278-15C>T)
c.299-15C>T (n.299-15C>T)
c.398-15C>T (n.398-15C>T)
c.7298-15C>T (n.7298-15C>T)
c.67-15C>T (n.67-15C>T)
c.7295-15C>T (n.7295-15C>T)
c.7307-15C>T (n.7307-15C>T)
c.7286-15C>T (n.7286-15C>T)
c.6941-15C>T (n.6941-15C>T)
c.3287-15C>T (n.3287-15C>T)
c.7181-15C>T (n.7181-15C>T)
c.7172-15C>T (n.7172-15C>T)
c.7187-15C>T (n.7187-15C>T)
c.1484-15C>T (n.1484-15C>T)
 gnomAD v4
Xg.31774207G>TCA2693390355DMDc.2156-15C>A (n.2156-15C>A)
c.-71-15C>A (n.-71-15C>A)
n.971-15C>A
n.893-15C>A
n.802-15C>A
c.7310-15C>A (n.7310-15C>A)
c.3278-15C>A (n.3278-15C>A)
c.299-15C>A (n.299-15C>A)
c.398-15C>A (n.398-15C>A)
c.7298-15C>A (n.7298-15C>A)
c.67-15C>A (n.67-15C>A)
c.7295-15C>A (n.7295-15C>A)
c.7307-15C>A (n.7307-15C>A)
c.7286-15C>A (n.7286-15C>A)
c.6941-15C>A (n.6941-15C>A)
c.3287-15C>A (n.3287-15C>A)
c.7181-15C>A (n.7181-15C>A)
c.7172-15C>A (n.7172-15C>A)
c.7187-15C>A (n.7187-15C>A)
c.1484-15C>A (n.1484-15C>A)
 gnomAD v4
Xg.31774207_31774208delinsGTCA2422548688DMDc.2156-16_2156-15delinsAC (n.2156-16_2156-15delinsAC)
c.-71-16_-71-15delinsAC (n.-71-16_-71-15delinsAC)
n.971-16_971-15delinsAC
n.893-16_893-15delinsAC
n.802-16_802-15delinsAC
c.7310-16_7310-15delinsAC (n.7310-16_7310-15delinsAC)
c.3278-16_3278-15delinsAC (n.3278-16_3278-15delinsAC)
c.299-16_299-15delinsAC (n.299-16_299-15delinsAC)
c.398-16_398-15delinsAC (n.398-16_398-15delinsAC)
c.7298-16_7298-15delinsAC (n.7298-16_7298-15delinsAC)
c.67-16_67-15delinsAC (n.67-16_67-15delinsAC)
c.7295-16_7295-15delinsAC (n.7295-16_7295-15delinsAC)
c.7307-16_7307-15delinsAC (n.7307-16_7307-15delinsAC)
c.7286-16_7286-15delinsAC (n.7286-16_7286-15delinsAC)
c.6941-16_6941-15delinsAC (n.6941-16_6941-15delinsAC)
c.3287-16_3287-15delinsAC (n.3287-16_3287-15delinsAC)
c.7181-16_7181-15delinsAC (n.7181-16_7181-15delinsAC)
c.7172-16_7172-15delinsAC (n.7172-16_7172-15delinsAC)
c.7187-16_7187-15delinsAC (n.7187-16_7187-15delinsAC)
c.1484-16_1484-15delinsAC (n.1484-16_1484-15delinsAC)
Xg.31774208T>CCA2693390356DMDc.2156-16A>G (n.2156-16A>G)
c.-71-16A>G (n.-71-16A>G)
n.971-16A>G
n.893-16A>G
n.802-16A>G
c.7310-16A>G (n.7310-16A>G)
c.3278-16A>G (n.3278-16A>G)
c.299-16A>G (n.299-16A>G)
c.398-16A>G (n.398-16A>G)
c.7298-16A>G (n.7298-16A>G)
c.67-16A>G (n.67-16A>G)
c.7295-16A>G (n.7295-16A>G)
c.7307-16A>G (n.7307-16A>G)
c.7286-16A>G (n.7286-16A>G)
c.6941-16A>G (n.6941-16A>G)
c.3287-16A>G (n.3287-16A>G)
c.7181-16A>G (n.7181-16A>G)
c.7172-16A>G (n.7172-16A>G)
c.7187-16A>G (n.7187-16A>G)
c.1484-16A>G (n.1484-16A>G)
 gnomAD v4
Xg.31774208T>GCA2693390357DMDc.2156-16A>C (n.2156-16A>C)
c.-71-16A>C (n.-71-16A>C)
n.971-16A>C
n.893-16A>C
n.802-16A>C
c.7310-16A>C (n.7310-16A>C)
c.3278-16A>C (n.3278-16A>C)
c.299-16A>C (n.299-16A>C)
c.398-16A>C (n.398-16A>C)
c.7298-16A>C (n.7298-16A>C)
c.67-16A>C (n.67-16A>C)
c.7295-16A>C (n.7295-16A>C)
c.7307-16A>C (n.7307-16A>C)
c.7286-16A>C (n.7286-16A>C)
c.6941-16A>C (n.6941-16A>C)
c.3287-16A>C (n.3287-16A>C)
c.7181-16A>C (n.7181-16A>C)
c.7172-16A>C (n.7172-16A>C)
c.7187-16A>C (n.7187-16A>C)
c.1484-16A>C (n.1484-16A>C)
 gnomAD v4
Xg.31774212delCA222488DMDc.2156-16del (n.2156-16del)
c.-71-16del (n.-71-16del)
n.971-16del
n.893-16del
n.802-16del
c.7310-16del (n.7310-16del)
c.3278-16del (n.3278-16del)
c.299-16del (n.299-16del)
c.398-16del (n.398-16del)
c.7298-16del (n.7298-16del)
c.67-16del (n.67-16del)
c.7295-16del (n.7295-16del)
c.7307-16del (n.7307-16del)
c.7286-16del (n.7286-16del)
c.6941-16del (n.6941-16del)
c.3287-16del (n.3287-16del)
c.7181-16del (n.7181-16del)
c.7172-16del (n.7172-16del)
c.7187-16del (n.7187-16del)
c.1484-16del (n.1484-16del)
 dbSNP gnomAD v4
Xg.31774209T>CCA2573158643DMDc.2156-17A>G (n.2156-17A>G)
c.-71-17A>G (n.-71-17A>G)
n.971-17A>G
n.893-17A>G
n.802-17A>G
c.7310-17A>G (n.7310-17A>G)
c.3278-17A>G (n.3278-17A>G)
c.299-17A>G (n.299-17A>G)
c.398-17A>G (n.398-17A>G)
c.7298-17A>G (n.7298-17A>G)
c.67-17A>G (n.67-17A>G)
c.7295-17A>G (n.7295-17A>G)
c.7307-17A>G (n.7307-17A>G)
c.7286-17A>G (n.7286-17A>G)
c.6941-17A>G (n.6941-17A>G)
c.3287-17A>G (n.3287-17A>G)
c.7181-17A>G (n.7181-17A>G)
c.7172-17A>G (n.7172-17A>G)
c.7187-17A>G (n.7187-17A>G)
c.1484-17A>G (n.1484-17A>G)
 ClinVar dbSNP
Xg.31774210T>GCA2693390358DMDc.2156-18A>C (n.2156-18A>C)
c.-71-18A>C (n.-71-18A>C)
n.971-18A>C
n.893-18A>C
n.802-18A>C
c.7310-18A>C (n.7310-18A>C)
c.3278-18A>C (n.3278-18A>C)
c.299-18A>C (n.299-18A>C)
c.398-18A>C (n.398-18A>C)
c.7298-18A>C (n.7298-18A>C)
c.67-18A>C (n.67-18A>C)
c.7295-18A>C (n.7295-18A>C)
c.7307-18A>C (n.7307-18A>C)
c.7286-18A>C (n.7286-18A>C)
c.6941-18A>C (n.6941-18A>C)
c.3287-18A>C (n.3287-18A>C)
c.7181-18A>C (n.7181-18A>C)
c.7172-18A>C (n.7172-18A>C)
c.7187-18A>C (n.7187-18A>C)
c.1484-18A>C (n.1484-18A>C)
 gnomAD v4
Xg.31774211T>CCA2579579141DMDc.2156-19A>G (n.2156-19A>G)
c.-71-19A>G (n.-71-19A>G)
n.971-19A>G
n.893-19A>G
n.802-19A>G
c.7310-19A>G (n.7310-19A>G)
c.3278-19A>G (n.3278-19A>G)
c.299-19A>G (n.299-19A>G)
c.398-19A>G (n.398-19A>G)
c.7298-19A>G (n.7298-19A>G)
c.67-19A>G (n.67-19A>G)
c.7295-19A>G (n.7295-19A>G)
c.7307-19A>G (n.7307-19A>G)
c.7286-19A>G (n.7286-19A>G)
c.6941-19A>G (n.6941-19A>G)
c.3287-19A>G (n.3287-19A>G)
c.7181-19A>G (n.7181-19A>G)
c.7172-19A>G (n.7172-19A>G)
c.7187-19A>G (n.7187-19A>G)
c.1484-19A>G (n.1484-19A>G)
 ClinVar
Xg.31774212T>CCA2579579142DMDc.2156-20A>G (n.2156-20A>G)
c.-71-20A>G (n.-71-20A>G)
n.971-20A>G
n.893-20A>G
n.802-20A>G
c.7310-20A>G (n.7310-20A>G)
c.3278-20A>G (n.3278-20A>G)
c.299-20A>G (n.299-20A>G)
c.398-20A>G (n.398-20A>G)
c.7298-20A>G (n.7298-20A>G)
c.67-20A>G (n.67-20A>G)
c.7295-20A>G (n.7295-20A>G)
c.7307-20A>G (n.7307-20A>G)
c.7286-20A>G (n.7286-20A>G)
c.6941-20A>G (n.6941-20A>G)
c.3287-20A>G (n.3287-20A>G)
c.7181-20A>G (n.7181-20A>G)
c.7172-20A>G (n.7172-20A>G)
c.7187-20A>G (n.7187-20A>G)
c.1484-20A>G (n.1484-20A>G)
 ClinVar
Xg.31774213G>ACA2693390359DMDc.2156-21C>T (n.2156-21C>T)
c.-71-21C>T (n.-71-21C>T)
n.971-21C>T
n.893-21C>T
n.802-21C>T
c.7310-21C>T (n.7310-21C>T)
c.3278-21C>T (n.3278-21C>T)
c.299-21C>T (n.299-21C>T)
c.398-21C>T (n.398-21C>T)
c.7298-21C>T (n.7298-21C>T)
c.67-21C>T (n.67-21C>T)
c.7295-21C>T (n.7295-21C>T)
c.7307-21C>T (n.7307-21C>T)
c.7286-21C>T (n.7286-21C>T)
c.6941-21C>T (n.6941-21C>T)
c.3287-21C>T (n.3287-21C>T)
c.7181-21C>T (n.7181-21C>T)
c.7172-21C>T (n.7172-21C>T)
c.7187-21C>T (n.7187-21C>T)
c.1484-21C>T (n.1484-21C>T)
 gnomAD v4
Xg.31774213G=CA2422548689DMDc.2156-21C= (n.2156-21C=)
c.-71-21C= (n.-71-21C=)
n.971-21C=
n.893-21C=
n.802-21C=
c.7310-21C= (n.7310-21C=)
c.3278-21C= (n.3278-21C=)
c.299-21C= (n.299-21C=)
c.398-21C= (n.398-21C=)
c.7298-21C= (n.7298-21C=)
c.67-21C= (n.67-21C=)
c.7295-21C= (n.7295-21C=)
c.7307-21C= (n.7307-21C=)
c.7286-21C= (n.7286-21C=)
c.6941-21C= (n.6941-21C=)
c.3287-21C= (n.3287-21C=)
c.7181-21C= (n.7181-21C=)
c.7172-21C= (n.7172-21C=)
c.7187-21C= (n.7187-21C=)
c.1484-21C= (n.1484-21C=)
Xg.31774213G>TCA641209472DMDc.2156-21C>A (n.2156-21C>A)
c.-71-21C>A (n.-71-21C>A)
n.971-21C>A
n.893-21C>A
n.802-21C>A
c.7310-21C>A (n.7310-21C>A)
c.3278-21C>A (n.3278-21C>A)
c.299-21C>A (n.299-21C>A)
c.398-21C>A (n.398-21C>A)
c.7298-21C>A (n.7298-21C>A)
c.67-21C>A (n.67-21C>A)
c.7295-21C>A (n.7295-21C>A)
c.7307-21C>A (n.7307-21C>A)
c.7286-21C>A (n.7286-21C>A)
c.6941-21C>A (n.6941-21C>A)
c.3287-21C>A (n.3287-21C>A)
c.7181-21C>A (n.7181-21C>A)
c.7172-21C>A (n.7172-21C>A)
c.7187-21C>A (n.7187-21C>A)
c.1484-21C>A (n.1484-21C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774214C>ACA641209474DMDc.2156-22G>T (n.2156-22G>T)
c.-71-22G>T (n.-71-22G>T)
n.971-22G>T
n.893-22G>T
n.802-22G>T
c.7310-22G>T (n.7310-22G>T)
c.3278-22G>T (n.3278-22G>T)
c.299-22G>T (n.299-22G>T)
c.398-22G>T (n.398-22G>T)
c.7298-22G>T (n.7298-22G>T)
c.67-22G>T (n.67-22G>T)
c.7295-22G>T (n.7295-22G>T)
c.7307-22G>T (n.7307-22G>T)
c.7286-22G>T (n.7286-22G>T)
c.6941-22G>T (n.6941-22G>T)
c.3287-22G>T (n.3287-22G>T)
c.7181-22G>T (n.7181-22G>T)
c.7172-22G>T (n.7172-22G>T)
c.7187-22G>T (n.7187-22G>T)
c.1484-22G>T (n.1484-22G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774214C=CA2422548690DMDc.2156-22G= (n.2156-22G=)
c.-71-22G= (n.-71-22G=)
n.971-22G=
n.893-22G=
n.802-22G=
c.7310-22G= (n.7310-22G=)
c.3278-22G= (n.3278-22G=)
c.299-22G= (n.299-22G=)
c.398-22G= (n.398-22G=)
c.7298-22G= (n.7298-22G=)
c.67-22G= (n.67-22G=)
c.7295-22G= (n.7295-22G=)
c.7307-22G= (n.7307-22G=)
c.7286-22G= (n.7286-22G=)
c.6941-22G= (n.6941-22G=)
c.3287-22G= (n.3287-22G=)
c.7181-22G= (n.7181-22G=)
c.7172-22G= (n.7172-22G=)
c.7187-22G= (n.7187-22G=)
c.1484-22G= (n.1484-22G=)
Xg.31774214C>GCA2693390360DMDc.2156-22G>C (n.2156-22G>C)
c.-71-22G>C (n.-71-22G>C)
n.971-22G>C
n.893-22G>C
n.802-22G>C
c.7310-22G>C (n.7310-22G>C)
c.3278-22G>C (n.3278-22G>C)
c.299-22G>C (n.299-22G>C)
c.398-22G>C (n.398-22G>C)
c.7298-22G>C (n.7298-22G>C)
c.67-22G>C (n.67-22G>C)
c.7295-22G>C (n.7295-22G>C)
c.7307-22G>C (n.7307-22G>C)
c.7286-22G>C (n.7286-22G>C)
c.6941-22G>C (n.6941-22G>C)
c.3287-22G>C (n.3287-22G>C)
c.7181-22G>C (n.7181-22G>C)
c.7172-22G>C (n.7172-22G>C)
c.7187-22G>C (n.7187-22G>C)
c.1484-22G>C (n.1484-22G>C)
 gnomAD v4
Xg.31774214C>TCA2579579143DMDc.2156-22G>A (n.2156-22G>A)
c.-71-22G>A (n.-71-22G>A)
n.971-22G>A
n.893-22G>A
n.802-22G>A
c.7310-22G>A (n.7310-22G>A)
c.3278-22G>A (n.3278-22G>A)
c.299-22G>A (n.299-22G>A)
c.398-22G>A (n.398-22G>A)
c.7298-22G>A (n.7298-22G>A)
c.67-22G>A (n.67-22G>A)
c.7295-22G>A (n.7295-22G>A)
c.7307-22G>A (n.7307-22G>A)
c.7286-22G>A (n.7286-22G>A)
c.6941-22G>A (n.6941-22G>A)
c.3287-22G>A (n.3287-22G>A)
c.7181-22G>A (n.7181-22G>A)
c.7172-22G>A (n.7172-22G>A)
c.7187-22G>A (n.7187-22G>A)
c.1484-22G>A (n.1484-22G>A)
 gnomAD v4
Xg.31774215A=CA2422548691DMDc.2156-23T= (n.2156-23T=)
c.-71-23T= (n.-71-23T=)
n.971-23T=
n.893-23T=
n.802-23T=
c.7310-23T= (n.7310-23T=)
c.3278-23T= (n.3278-23T=)
c.299-23T= (n.299-23T=)
c.398-23T= (n.398-23T=)
c.7298-23T= (n.7298-23T=)
c.67-23T= (n.67-23T=)
c.7295-23T= (n.7295-23T=)
c.7307-23T= (n.7307-23T=)
c.7286-23T= (n.7286-23T=)
c.6941-23T= (n.6941-23T=)
c.3287-23T= (n.3287-23T=)
c.7181-23T= (n.7181-23T=)
c.7172-23T= (n.7172-23T=)
c.7187-23T= (n.7187-23T=)
c.1484-23T= (n.1484-23T=)
Xg.31774215A>CCA2422548692DMDc.2156-23T>G (n.2156-23T>G)
c.-71-23T>G (n.-71-23T>G)
n.971-23T>G
n.893-23T>G
n.802-23T>G
c.7310-23T>G (n.7310-23T>G)
c.3278-23T>G (n.3278-23T>G)
c.299-23T>G (n.299-23T>G)
c.398-23T>G (n.398-23T>G)
c.7298-23T>G (n.7298-23T>G)
c.67-23T>G (n.67-23T>G)
c.7295-23T>G (n.7295-23T>G)
c.7307-23T>G (n.7307-23T>G)
c.7286-23T>G (n.7286-23T>G)
c.6941-23T>G (n.6941-23T>G)
c.3287-23T>G (n.3287-23T>G)
c.7181-23T>G (n.7181-23T>G)
c.7172-23T>G (n.7172-23T>G)
c.7187-23T>G (n.7187-23T>G)
c.1484-23T>G (n.1484-23T>G)
 dbSNP
Xg.31774215A>GCA10378291DMDc.2156-23T>C (n.2156-23T>C)
c.-71-23T>C (n.-71-23T>C)
n.971-23T>C
n.893-23T>C
n.802-23T>C
c.7310-23T>C (n.7310-23T>C)
c.3278-23T>C (n.3278-23T>C)
c.299-23T>C (n.299-23T>C)
c.398-23T>C (n.398-23T>C)
c.7298-23T>C (n.7298-23T>C)
c.67-23T>C (n.67-23T>C)
c.7295-23T>C (n.7295-23T>C)
c.7307-23T>C (n.7307-23T>C)
c.7286-23T>C (n.7286-23T>C)
c.6941-23T>C (n.6941-23T>C)
c.3287-23T>C (n.3287-23T>C)
c.7181-23T>C (n.7181-23T>C)
c.7172-23T>C (n.7172-23T>C)
c.7187-23T>C (n.7187-23T>C)
c.1484-23T>C (n.1484-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774219_31774220insAAAAAAAAAAACA1132108721DMDc.2156-23_2156-22insTTTTTTTTTTT (n.2156-23_2156-22insTTTTTTTTTTT)
c.-71-23_-71-22insTTTTTTTTTTT (n.-71-23_-71-22insTTTTTTTTTTT)
n.971-23_971-22insTTTTTTTTTTT
n.893-23_893-22insTTTTTTTTTTT
n.802-23_802-22insTTTTTTTTTTT
c.7310-23_7310-22insTTTTTTTTTTT (n.7310-23_7310-22insTTTTTTTTTTT)
c.3278-23_3278-22insTTTTTTTTTTT (n.3278-23_3278-22insTTTTTTTTTTT)
c.299-23_299-22insTTTTTTTTTTT (n.299-23_299-22insTTTTTTTTTTT)
c.398-23_398-22insTTTTTTTTTTT (n.398-23_398-22insTTTTTTTTTTT)
c.7298-23_7298-22insTTTTTTTTTTT (n.7298-23_7298-22insTTTTTTTTTTT)
c.67-23_67-22insTTTTTTTTTTT (n.67-23_67-22insTTTTTTTTTTT)
c.7295-23_7295-22insTTTTTTTTTTT (n.7295-23_7295-22insTTTTTTTTTTT)
c.7307-23_7307-22insTTTTTTTTTTT (n.7307-23_7307-22insTTTTTTTTTTT)
c.7286-23_7286-22insTTTTTTTTTTT (n.7286-23_7286-22insTTTTTTTTTTT)
c.6941-23_6941-22insTTTTTTTTTTT (n.6941-23_6941-22insTTTTTTTTTTT)
c.3287-23_3287-22insTTTTTTTTTTT (n.3287-23_3287-22insTTTTTTTTTTT)
c.7181-23_7181-22insTTTTTTTTTTT (n.7181-23_7181-22insTTTTTTTTTTT)
c.7172-23_7172-22insTTTTTTTTTTT (n.7172-23_7172-22insTTTTTTTTTTT)
c.7187-23_7187-22insTTTTTTTTTTT (n.7187-23_7187-22insTTTTTTTTTTT)
c.1484-23_1484-22insTTTTTTTTTTT (n.1484-23_1484-22insTTTTTTTTTTT)
Xg.31774219dupCA2820299058DMDc.2156-23dup (n.2156-23dup)
c.-71-23dup (n.-71-23dup)
n.971-23dup
n.893-23dup
n.802-23dup
c.7310-23dup (n.7310-23dup)
c.3278-23dup (n.3278-23dup)
c.299-23dup (n.299-23dup)
c.398-23dup (n.398-23dup)
c.7298-23dup (n.7298-23dup)
c.67-23dup (n.67-23dup)
c.7295-23dup (n.7295-23dup)
c.7307-23dup (n.7307-23dup)
c.7286-23dup (n.7286-23dup)
c.6941-23dup (n.6941-23dup)
c.3287-23dup (n.3287-23dup)
c.7181-23dup (n.7181-23dup)
c.7172-23dup (n.7172-23dup)
c.7187-23dup (n.7187-23dup)
c.1484-23dup (n.1484-23dup)
Xg.31774219delCA2693390361DMDc.2156-23del (n.2156-23del)
c.-71-23del (n.-71-23del)
n.971-23del
n.893-23del
n.802-23del
c.7310-23del (n.7310-23del)
c.3278-23del (n.3278-23del)
c.299-23del (n.299-23del)
c.398-23del (n.398-23del)
c.7298-23del (n.7298-23del)
c.67-23del (n.67-23del)
c.7295-23del (n.7295-23del)
c.7307-23del (n.7307-23del)
c.7286-23del (n.7286-23del)
c.6941-23del (n.6941-23del)
c.3287-23del (n.3287-23del)
c.7181-23del (n.7181-23del)
c.7172-23del (n.7172-23del)
c.7187-23del (n.7187-23del)
c.1484-23del (n.1484-23del)
 gnomAD v4
Xg.31774216A=CA2422548693DMDc.2156-24T= (n.2156-24T=)
c.-71-24T= (n.-71-24T=)
n.971-24T=
n.893-24T=
n.802-24T=
c.7310-24T= (n.7310-24T=)
c.3278-24T= (n.3278-24T=)
c.299-24T= (n.299-24T=)
c.398-24T= (n.398-24T=)
c.7298-24T= (n.7298-24T=)
c.67-24T= (n.67-24T=)
c.7295-24T= (n.7295-24T=)
c.7307-24T= (n.7307-24T=)
c.7286-24T= (n.7286-24T=)
c.6941-24T= (n.6941-24T=)
c.3287-24T= (n.3287-24T=)
c.7181-24T= (n.7181-24T=)
c.7172-24T= (n.7172-24T=)
c.7187-24T= (n.7187-24T=)
c.1484-24T= (n.1484-24T=)
Xg.31774216A>GCA641209476DMDc.2156-24T>C (n.2156-24T>C)
c.-71-24T>C (n.-71-24T>C)
n.971-24T>C
n.893-24T>C
n.802-24T>C
c.7310-24T>C (n.7310-24T>C)
c.3278-24T>C (n.3278-24T>C)
c.299-24T>C (n.299-24T>C)
c.398-24T>C (n.398-24T>C)
c.7298-24T>C (n.7298-24T>C)
c.67-24T>C (n.67-24T>C)
c.7295-24T>C (n.7295-24T>C)
c.7307-24T>C (n.7307-24T>C)
c.7286-24T>C (n.7286-24T>C)
c.6941-24T>C (n.6941-24T>C)
c.3287-24T>C (n.3287-24T>C)
c.7181-24T>C (n.7181-24T>C)
c.7172-24T>C (n.7172-24T>C)
c.7187-24T>C (n.7187-24T>C)
c.1484-24T>C (n.1484-24T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774218_31774220delinsAAGCA2422548694DMDc.2156-28_2156-26delinsCTT (n.2156-28_2156-26delinsCTT)
c.-71-28_-71-26delinsCTT (n.-71-28_-71-26delinsCTT)
n.971-28_971-26delinsCTT
n.893-28_893-26delinsCTT
n.802-28_802-26delinsCTT
c.7310-28_7310-26delinsCTT (n.7310-28_7310-26delinsCTT)
c.3278-28_3278-26delinsCTT (n.3278-28_3278-26delinsCTT)
c.299-28_299-26delinsCTT (n.299-28_299-26delinsCTT)
c.398-28_398-26delinsCTT (n.398-28_398-26delinsCTT)
c.7298-28_7298-26delinsCTT (n.7298-28_7298-26delinsCTT)
c.67-28_67-26delinsCTT (n.67-28_67-26delinsCTT)
c.7295-28_7295-26delinsCTT (n.7295-28_7295-26delinsCTT)
c.7307-28_7307-26delinsCTT (n.7307-28_7307-26delinsCTT)
c.7286-28_7286-26delinsCTT (n.7286-28_7286-26delinsCTT)
c.6941-28_6941-26delinsCTT (n.6941-28_6941-26delinsCTT)
c.3287-28_3287-26delinsCTT (n.3287-28_3287-26delinsCTT)
c.7181-28_7181-26delinsCTT (n.7181-28_7181-26delinsCTT)
c.7172-28_7172-26delinsCTT (n.7172-28_7172-26delinsCTT)
c.7187-28_7187-26delinsCTT (n.7187-28_7187-26delinsCTT)
c.1484-28_1484-26delinsCTT (n.1484-28_1484-26delinsCTT)
Xg.31774219_31774220delCA641209478DMDc.2156-28_2156-27del (n.2156-28_2156-27del)
c.-71-28_-71-27del (n.-71-28_-71-27del)
n.971-28_971-27del
n.893-28_893-27del
n.802-28_802-27del
c.7310-28_7310-27del (n.7310-28_7310-27del)
c.3278-28_3278-27del (n.3278-28_3278-27del)
c.299-28_299-27del (n.299-28_299-27del)
c.398-28_398-27del (n.398-28_398-27del)
c.7298-28_7298-27del (n.7298-28_7298-27del)
c.67-28_67-27del (n.67-28_67-27del)
c.7295-28_7295-27del (n.7295-28_7295-27del)
c.7307-28_7307-27del (n.7307-28_7307-27del)
c.7286-28_7286-27del (n.7286-28_7286-27del)
c.6941-28_6941-27del (n.6941-28_6941-27del)
c.3287-28_3287-27del (n.3287-28_3287-27del)
c.7181-28_7181-27del (n.7181-28_7181-27del)
c.7172-28_7172-27del (n.7172-28_7172-27del)
c.7187-28_7187-27del (n.7187-28_7187-27del)
c.1484-28_1484-27del (n.1484-28_1484-27del)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774220G>ACA1132108726DMDc.2156-28C>T (n.2156-28C>T)
c.-71-28C>T (n.-71-28C>T)
n.971-28C>T
n.893-28C>T
n.802-28C>T
c.7310-28C>T (n.7310-28C>T)
c.3278-28C>T (n.3278-28C>T)
c.299-28C>T (n.299-28C>T)
c.398-28C>T (n.398-28C>T)
c.7298-28C>T (n.7298-28C>T)
c.67-28C>T (n.67-28C>T)
c.7295-28C>T (n.7295-28C>T)
c.7307-28C>T (n.7307-28C>T)
c.7286-28C>T (n.7286-28C>T)
c.6941-28C>T (n.6941-28C>T)
c.3287-28C>T (n.3287-28C>T)
c.7181-28C>T (n.7181-28C>T)
c.7172-28C>T (n.7172-28C>T)
c.7187-28C>T (n.7187-28C>T)
c.1484-28C>T (n.1484-28C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774220G=CA2422548695DMDc.2156-28C= (n.2156-28C=)
c.-71-28C= (n.-71-28C=)
n.971-28C=
n.893-28C=
n.802-28C=
c.7310-28C= (n.7310-28C=)
c.3278-28C= (n.3278-28C=)
c.299-28C= (n.299-28C=)
c.398-28C= (n.398-28C=)
c.7298-28C= (n.7298-28C=)
c.67-28C= (n.67-28C=)
c.7295-28C= (n.7295-28C=)
c.7307-28C= (n.7307-28C=)
c.7286-28C= (n.7286-28C=)
c.6941-28C= (n.6941-28C=)
c.3287-28C= (n.3287-28C=)
c.7181-28C= (n.7181-28C=)
c.7172-28C= (n.7172-28C=)
c.7187-28C= (n.7187-28C=)
c.1484-28C= (n.1484-28C=)
Xg.31774220_31774221delCA2693390362DMDc.2156-29_2156-28del (n.2156-29_2156-28del)
c.-71-29_-71-28del (n.-71-29_-71-28del)
n.971-29_971-28del
n.893-29_893-28del
n.802-29_802-28del
c.7310-29_7310-28del (n.7310-29_7310-28del)
c.3278-29_3278-28del (n.3278-29_3278-28del)
c.299-29_299-28del (n.299-29_299-28del)
c.398-29_398-28del (n.398-29_398-28del)
c.7298-29_7298-28del (n.7298-29_7298-28del)
c.67-29_67-28del (n.67-29_67-28del)
c.7295-29_7295-28del (n.7295-29_7295-28del)
c.7307-29_7307-28del (n.7307-29_7307-28del)
c.7286-29_7286-28del (n.7286-29_7286-28del)
c.6941-29_6941-28del (n.6941-29_6941-28del)
c.3287-29_3287-28del (n.3287-29_3287-28del)
c.7181-29_7181-28del (n.7181-29_7181-28del)
c.7172-29_7172-28del (n.7172-29_7172-28del)
c.7187-29_7187-28del (n.7187-29_7187-28del)
c.1484-29_1484-28del (n.1484-29_1484-28del)
 gnomAD v4
Xg.31774221G>ACA10378293DMDc.2156-29C>T (n.2156-29C>T)
c.-71-29C>T (n.-71-29C>T)
n.971-29C>T
n.893-29C>T
n.802-29C>T
c.7310-29C>T (n.7310-29C>T)
c.3278-29C>T (n.3278-29C>T)
c.299-29C>T (n.299-29C>T)
c.398-29C>T (n.398-29C>T)
c.7298-29C>T (n.7298-29C>T)
c.67-29C>T (n.67-29C>T)
c.7295-29C>T (n.7295-29C>T)
c.7307-29C>T (n.7307-29C>T)
c.7286-29C>T (n.7286-29C>T)
c.6941-29C>T (n.6941-29C>T)
c.3287-29C>T (n.3287-29C>T)
c.7181-29C>T (n.7181-29C>T)
c.7172-29C>T (n.7172-29C>T)
c.7187-29C>T (n.7187-29C>T)
c.1484-29C>T (n.1484-29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774221G>CCA222489DMDc.2156-29C>G (n.2156-29C>G)
c.-71-29C>G (n.-71-29C>G)
n.971-29C>G
n.893-29C>G
n.802-29C>G
c.7310-29C>G (n.7310-29C>G)
c.3278-29C>G (n.3278-29C>G)
c.299-29C>G (n.299-29C>G)
c.398-29C>G (n.398-29C>G)
c.7298-29C>G (n.7298-29C>G)
c.67-29C>G (n.67-29C>G)
c.7295-29C>G (n.7295-29C>G)
c.7307-29C>G (n.7307-29C>G)
c.7286-29C>G (n.7286-29C>G)
c.6941-29C>G (n.6941-29C>G)
c.3287-29C>G (n.3287-29C>G)
c.7181-29C>G (n.7181-29C>G)
c.7172-29C>G (n.7172-29C>G)
c.7187-29C>G (n.7187-29C>G)
c.1484-29C>G (n.1484-29C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774221G=CA2422548696DMDc.2156-29C= (n.2156-29C=)
c.-71-29C= (n.-71-29C=)
n.971-29C=
n.893-29C=
n.802-29C=
c.7310-29C= (n.7310-29C=)
c.3278-29C= (n.3278-29C=)
c.299-29C= (n.299-29C=)
c.398-29C= (n.398-29C=)
c.7298-29C= (n.7298-29C=)
c.67-29C= (n.67-29C=)
c.7295-29C= (n.7295-29C=)
c.7307-29C= (n.7307-29C=)
c.7286-29C= (n.7286-29C=)
c.6941-29C= (n.6941-29C=)
c.3287-29C= (n.3287-29C=)
c.7181-29C= (n.7181-29C=)
c.7172-29C= (n.7172-29C=)
c.7187-29C= (n.7187-29C=)
c.1484-29C= (n.1484-29C=)
Xg.31774221G>TCA2693390364DMDc.2156-29C>A (n.2156-29C>A)
c.-71-29C>A (n.-71-29C>A)
n.971-29C>A
n.893-29C>A
n.802-29C>A
c.7310-29C>A (n.7310-29C>A)
c.3278-29C>A (n.3278-29C>A)
c.299-29C>A (n.299-29C>A)
c.398-29C>A (n.398-29C>A)
c.7298-29C>A (n.7298-29C>A)
c.67-29C>A (n.67-29C>A)
c.7295-29C>A (n.7295-29C>A)
c.7307-29C>A (n.7307-29C>A)
c.7286-29C>A (n.7286-29C>A)
c.6941-29C>A (n.6941-29C>A)
c.3287-29C>A (n.3287-29C>A)
c.7181-29C>A (n.7181-29C>A)
c.7172-29C>A (n.7172-29C>A)
c.7187-29C>A (n.7187-29C>A)
c.1484-29C>A (n.1484-29C>A)
 gnomAD v4
Xg.31774221_31774222delinsGACA2422548697DMDc.2156-30_2156-29delinsTC (n.2156-30_2156-29delinsTC)
c.-71-30_-71-29delinsTC (n.-71-30_-71-29delinsTC)
n.971-30_971-29delinsTC
n.893-30_893-29delinsTC
n.802-30_802-29delinsTC
c.7310-30_7310-29delinsTC (n.7310-30_7310-29delinsTC)
c.3278-30_3278-29delinsTC (n.3278-30_3278-29delinsTC)
c.299-30_299-29delinsTC (n.299-30_299-29delinsTC)
c.398-30_398-29delinsTC (n.398-30_398-29delinsTC)
c.7298-30_7298-29delinsTC (n.7298-30_7298-29delinsTC)
c.67-30_67-29delinsTC (n.67-30_67-29delinsTC)
c.7295-30_7295-29delinsTC (n.7295-30_7295-29delinsTC)
c.7307-30_7307-29delinsTC (n.7307-30_7307-29delinsTC)
c.7286-30_7286-29delinsTC (n.7286-30_7286-29delinsTC)
c.6941-30_6941-29delinsTC (n.6941-30_6941-29delinsTC)
c.3287-30_3287-29delinsTC (n.3287-30_3287-29delinsTC)
c.7181-30_7181-29delinsTC (n.7181-30_7181-29delinsTC)
c.7172-30_7172-29delinsTC (n.7172-30_7172-29delinsTC)
c.7187-30_7187-29delinsTC (n.7187-30_7187-29delinsTC)
c.1484-30_1484-29delinsTC (n.1484-30_1484-29delinsTC)
Xg.31774227_31774228insAAAGAAAAAACA2693390363DMDc.2156-29_2156-28insTTTTTTTTTC (n.2156-29_2156-28insTTTTTTTTTC)
c.-71-29_-71-28insTTTTTTTTTC (n.-71-29_-71-28insTTTTTTTTTC)
n.971-29_971-28insTTTTTTTTTC
n.893-29_893-28insTTTTTTTTTC
n.802-29_802-28insTTTTTTTTTC
c.7310-29_7310-28insTTTTTTTTTC (n.7310-29_7310-28insTTTTTTTTTC)
c.3278-29_3278-28insTTTTTTTTTC (n.3278-29_3278-28insTTTTTTTTTC)
c.299-29_299-28insTTTTTTTTTC (n.299-29_299-28insTTTTTTTTTC)
c.398-29_398-28insTTTTTTTTTC (n.398-29_398-28insTTTTTTTTTC)
c.7298-29_7298-28insTTTTTTTTTC (n.7298-29_7298-28insTTTTTTTTTC)
c.67-29_67-28insTTTTTTTTTC (n.67-29_67-28insTTTTTTTTTC)
c.7295-29_7295-28insTTTTTTTTTC (n.7295-29_7295-28insTTTTTTTTTC)
c.7307-29_7307-28insTTTTTTTTTC (n.7307-29_7307-28insTTTTTTTTTC)
c.7286-29_7286-28insTTTTTTTTTC (n.7286-29_7286-28insTTTTTTTTTC)
c.6941-29_6941-28insTTTTTTTTTC (n.6941-29_6941-28insTTTTTTTTTC)
c.3287-29_3287-28insTTTTTTTTTC (n.3287-29_3287-28insTTTTTTTTTC)
c.7181-29_7181-28insTTTTTTTTTC (n.7181-29_7181-28insTTTTTTTTTC)
c.7172-29_7172-28insTTTTTTTTTC (n.7172-29_7172-28insTTTTTTTTTC)
c.7187-29_7187-28insTTTTTTTTTC (n.7187-29_7187-28insTTTTTTTTTC)
c.1484-29_1484-28insTTTTTTTTTC (n.1484-29_1484-28insTTTTTTTTTC)
 gnomAD v4
Xg.31774222A=CA2422548698DMDc.2156-30T= (n.2156-30T=)
c.-71-30T= (n.-71-30T=)
n.971-30T=
n.893-30T=
n.802-30T=
c.7310-30T= (n.7310-30T=)
c.3278-30T= (n.3278-30T=)
c.299-30T= (n.299-30T=)
c.398-30T= (n.398-30T=)
c.7298-30T= (n.7298-30T=)
c.67-30T= (n.67-30T=)
c.7295-30T= (n.7295-30T=)
c.7307-30T= (n.7307-30T=)
c.7286-30T= (n.7286-30T=)
c.6941-30T= (n.6941-30T=)
c.3287-30T= (n.3287-30T=)
c.7181-30T= (n.7181-30T=)
c.7172-30T= (n.7172-30T=)
c.7187-30T= (n.7187-30T=)
c.1484-30T= (n.1484-30T=)
Xg.31774222A>CCA10378294DMDc.2156-30T>G (n.2156-30T>G)
c.-71-30T>G (n.-71-30T>G)
n.971-30T>G
n.893-30T>G
n.802-30T>G
c.7310-30T>G (n.7310-30T>G)
c.3278-30T>G (n.3278-30T>G)
c.299-30T>G (n.299-30T>G)
c.398-30T>G (n.398-30T>G)
c.7298-30T>G (n.7298-30T>G)
c.67-30T>G (n.67-30T>G)
c.7295-30T>G (n.7295-30T>G)
c.7307-30T>G (n.7307-30T>G)
c.7286-30T>G (n.7286-30T>G)
c.6941-30T>G (n.6941-30T>G)
c.3287-30T>G (n.3287-30T>G)
c.7181-30T>G (n.7181-30T>G)
c.7172-30T>G (n.7172-30T>G)
c.7187-30T>G (n.7187-30T>G)
c.1484-30T>G (n.1484-30T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774227dupCA10378292DMDc.2156-30dup (n.2156-30dup)
c.-71-30dup (n.-71-30dup)
n.971-30dup
n.893-30dup
n.802-30dup
c.7310-30dup (n.7310-30dup)
c.3278-30dup (n.3278-30dup)
c.299-30dup (n.299-30dup)
c.398-30dup (n.398-30dup)
c.7298-30dup (n.7298-30dup)
c.67-30dup (n.67-30dup)
c.7295-30dup (n.7295-30dup)
c.7307-30dup (n.7307-30dup)
c.7286-30dup (n.7286-30dup)
c.6941-30dup (n.6941-30dup)
c.3287-30dup (n.3287-30dup)
c.7181-30dup (n.7181-30dup)
c.7172-30dup (n.7172-30dup)
c.7187-30dup (n.7187-30dup)
c.1484-30dup (n.1484-30dup)
 dbSNP ExAC gnomAD v4
Xg.31774227delCA641209483DMDc.2156-30del (n.2156-30del)
c.-71-30del (n.-71-30del)
n.971-30del
n.893-30del
n.802-30del
c.7310-30del (n.7310-30del)
c.3278-30del (n.3278-30del)
c.299-30del (n.299-30del)
c.398-30del (n.398-30del)
c.7298-30del (n.7298-30del)
c.67-30del (n.67-30del)
c.7295-30del (n.7295-30del)
c.7307-30del (n.7307-30del)
c.7286-30del (n.7286-30del)
c.6941-30del (n.6941-30del)
c.3287-30del (n.3287-30del)
c.7181-30del (n.7181-30del)
c.7172-30del (n.7172-30del)
c.7187-30del (n.7187-30del)
c.1484-30del (n.1484-30del)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774224A=CA2422548699DMDc.2156-32T= (n.2156-32T=)
c.-71-32T= (n.-71-32T=)
n.971-32T=
n.893-32T=
n.802-32T=
c.7310-32T= (n.7310-32T=)
c.3278-32T= (n.3278-32T=)
c.299-32T= (n.299-32T=)
c.398-32T= (n.398-32T=)
c.7298-32T= (n.7298-32T=)
c.67-32T= (n.67-32T=)
c.7295-32T= (n.7295-32T=)
c.7307-32T= (n.7307-32T=)
c.7286-32T= (n.7286-32T=)
c.6941-32T= (n.6941-32T=)
c.3287-32T= (n.3287-32T=)
c.7181-32T= (n.7181-32T=)
c.7172-32T= (n.7172-32T=)
c.7187-32T= (n.7187-32T=)
c.1484-32T= (n.1484-32T=)
Xg.31774224A>GCA10378295DMDc.2156-32T>C (n.2156-32T>C)
c.-71-32T>C (n.-71-32T>C)
n.971-32T>C
n.893-32T>C
n.802-32T>C
c.7310-32T>C (n.7310-32T>C)
c.3278-32T>C (n.3278-32T>C)
c.299-32T>C (n.299-32T>C)
c.398-32T>C (n.398-32T>C)
c.7298-32T>C (n.7298-32T>C)
c.67-32T>C (n.67-32T>C)
c.7295-32T>C (n.7295-32T>C)
c.7307-32T>C (n.7307-32T>C)
c.7286-32T>C (n.7286-32T>C)
c.6941-32T>C (n.6941-32T>C)
c.3287-32T>C (n.3287-32T>C)
c.7181-32T>C (n.7181-32T>C)
c.7172-32T>C (n.7172-32T>C)
c.7187-32T>C (n.7187-32T>C)
c.1484-32T>C (n.1484-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774225A=CA2422548700DMDc.2156-33T= (n.2156-33T=)
c.-71-33T= (n.-71-33T=)
n.971-33T=
n.893-33T=
n.802-33T=
c.7310-33T= (n.7310-33T=)
c.3278-33T= (n.3278-33T=)
c.299-33T= (n.299-33T=)
c.398-33T= (n.398-33T=)
c.7298-33T= (n.7298-33T=)
c.67-33T= (n.67-33T=)
c.7295-33T= (n.7295-33T=)
c.7307-33T= (n.7307-33T=)
c.7286-33T= (n.7286-33T=)
c.6941-33T= (n.6941-33T=)
c.3287-33T= (n.3287-33T=)
c.7181-33T= (n.7181-33T=)
c.7172-33T= (n.7172-33T=)
c.7187-33T= (n.7187-33T=)
c.1484-33T= (n.1484-33T=)
Xg.31774225A>CCA10378296DMDc.2156-33T>G (n.2156-33T>G)
c.-71-33T>G (n.-71-33T>G)
n.971-33T>G
n.893-33T>G
n.802-33T>G
c.7310-33T>G (n.7310-33T>G)
c.3278-33T>G (n.3278-33T>G)
c.299-33T>G (n.299-33T>G)
c.398-33T>G (n.398-33T>G)
c.7298-33T>G (n.7298-33T>G)
c.67-33T>G (n.67-33T>G)
c.7295-33T>G (n.7295-33T>G)
c.7307-33T>G (n.7307-33T>G)
c.7286-33T>G (n.7286-33T>G)
c.6941-33T>G (n.6941-33T>G)
c.3287-33T>G (n.3287-33T>G)
c.7181-33T>G (n.7181-33T>G)
c.7172-33T>G (n.7172-33T>G)
c.7187-33T>G (n.7187-33T>G)
c.1484-33T>G (n.1484-33T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774225_31774228delinsAAAGCA2422548701DMDc.2156-36_2156-33delinsCTTT (n.2156-36_2156-33delinsCTTT)
c.-71-36_-71-33delinsCTTT (n.-71-36_-71-33delinsCTTT)
n.971-36_971-33delinsCTTT
n.893-36_893-33delinsCTTT
n.802-36_802-33delinsCTTT
c.7310-36_7310-33delinsCTTT (n.7310-36_7310-33delinsCTTT)
c.3278-36_3278-33delinsCTTT (n.3278-36_3278-33delinsCTTT)
c.299-36_299-33delinsCTTT (n.299-36_299-33delinsCTTT)
c.398-36_398-33delinsCTTT (n.398-36_398-33delinsCTTT)
c.7298-36_7298-33delinsCTTT (n.7298-36_7298-33delinsCTTT)
c.67-36_67-33delinsCTTT (n.67-36_67-33delinsCTTT)
c.7295-36_7295-33delinsCTTT (n.7295-36_7295-33delinsCTTT)
c.7307-36_7307-33delinsCTTT (n.7307-36_7307-33delinsCTTT)
c.7286-36_7286-33delinsCTTT (n.7286-36_7286-33delinsCTTT)
c.6941-36_6941-33delinsCTTT (n.6941-36_6941-33delinsCTTT)
c.3287-36_3287-33delinsCTTT (n.3287-36_3287-33delinsCTTT)
c.7181-36_7181-33delinsCTTT (n.7181-36_7181-33delinsCTTT)
c.7172-36_7172-33delinsCTTT (n.7172-36_7172-33delinsCTTT)
c.7187-36_7187-33delinsCTTT (n.7187-36_7187-33delinsCTTT)
c.1484-36_1484-33delinsCTTT (n.1484-36_1484-33delinsCTTT)
Xg.31774226A>GCA2820299064DMDc.2156-34T>C (n.2156-34T>C)
c.-71-34T>C (n.-71-34T>C)
n.971-34T>C
n.893-34T>C
n.802-34T>C
c.7310-34T>C (n.7310-34T>C)
c.3278-34T>C (n.3278-34T>C)
c.299-34T>C (n.299-34T>C)
c.398-34T>C (n.398-34T>C)
c.7298-34T>C (n.7298-34T>C)
c.67-34T>C (n.67-34T>C)
c.7295-34T>C (n.7295-34T>C)
c.7307-34T>C (n.7307-34T>C)
c.7286-34T>C (n.7286-34T>C)
c.6941-34T>C (n.6941-34T>C)
c.3287-34T>C (n.3287-34T>C)
c.7181-34T>C (n.7181-34T>C)
c.7172-34T>C (n.7172-34T>C)
c.7187-34T>C (n.7187-34T>C)
c.1484-34T>C (n.1484-34T>C)
Xg.31774231_31774233delCA641209485DMDc.2156-36_2156-34del (n.2156-36_2156-34del)
c.-71-36_-71-34del (n.-71-36_-71-34del)
n.971-36_971-34del
n.893-36_893-34del
n.802-36_802-34del
c.7310-36_7310-34del (n.7310-36_7310-34del)
c.3278-36_3278-34del (n.3278-36_3278-34del)
c.299-36_299-34del (n.299-36_299-34del)
c.398-36_398-34del (n.398-36_398-34del)
c.7298-36_7298-34del (n.7298-36_7298-34del)
c.67-36_67-34del (n.67-36_67-34del)
c.7295-36_7295-34del (n.7295-36_7295-34del)
c.7307-36_7307-34del (n.7307-36_7307-34del)
c.7286-36_7286-34del (n.7286-36_7286-34del)
c.6941-36_6941-34del (n.6941-36_6941-34del)
c.3287-36_3287-34del (n.3287-36_3287-34del)
c.7181-36_7181-34del (n.7181-36_7181-34del)
c.7172-36_7172-34del (n.7172-36_7172-34del)
c.7187-36_7187-34del (n.7187-36_7187-34del)
c.1484-36_1484-34del (n.1484-36_1484-34del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774228_31774233delCA2693390365DMDc.2156-39_2156-34del (n.2156-39_2156-34del)
c.-71-39_-71-34del (n.-71-39_-71-34del)
n.971-39_971-34del
n.893-39_893-34del
n.802-39_802-34del
c.7310-39_7310-34del (n.7310-39_7310-34del)
c.3278-39_3278-34del (n.3278-39_3278-34del)
c.299-39_299-34del (n.299-39_299-34del)
c.398-39_398-34del (n.398-39_398-34del)
c.7298-39_7298-34del (n.7298-39_7298-34del)
c.67-39_67-34del (n.67-39_67-34del)
c.7295-39_7295-34del (n.7295-39_7295-34del)
c.7307-39_7307-34del (n.7307-39_7307-34del)
c.7286-39_7286-34del (n.7286-39_7286-34del)
c.6941-39_6941-34del (n.6941-39_6941-34del)
c.3287-39_3287-34del (n.3287-39_3287-34del)
c.7181-39_7181-34del (n.7181-39_7181-34del)
c.7172-39_7172-34del (n.7172-39_7172-34del)
c.7187-39_7187-34del (n.7187-39_7187-34del)
c.1484-39_1484-34del (n.1484-39_1484-34del)
 gnomAD v4
Xg.31774227A>GCA2579579144DMDc.2156-35T>C (n.2156-35T>C)
c.-71-35T>C (n.-71-35T>C)
n.971-35T>C
n.893-35T>C
n.802-35T>C
c.7310-35T>C (n.7310-35T>C)
c.3278-35T>C (n.3278-35T>C)
c.299-35T>C (n.299-35T>C)
c.398-35T>C (n.398-35T>C)
c.7298-35T>C (n.7298-35T>C)
c.67-35T>C (n.67-35T>C)
c.7295-35T>C (n.7295-35T>C)
c.7307-35T>C (n.7307-35T>C)
c.7286-35T>C (n.7286-35T>C)
c.6941-35T>C (n.6941-35T>C)
c.3287-35T>C (n.3287-35T>C)
c.7181-35T>C (n.7181-35T>C)
c.7172-35T>C (n.7172-35T>C)
c.7187-35T>C (n.7187-35T>C)
c.1484-35T>C (n.1484-35T>C)
 gnomAD v4
Xg.31774228delCA2693390366DMDc.2156-36del (n.2156-36del)
c.-71-36del (n.-71-36del)
n.971-36del
n.893-36del
n.802-36del
c.7310-36del (n.7310-36del)
c.3278-36del (n.3278-36del)
c.299-36del (n.299-36del)
c.398-36del (n.398-36del)
c.7298-36del (n.7298-36del)
c.67-36del (n.67-36del)
c.7295-36del (n.7295-36del)
c.7307-36del (n.7307-36del)
c.7286-36del (n.7286-36del)
c.6941-36del (n.6941-36del)
c.3287-36del (n.3287-36del)
c.7181-36del (n.7181-36del)
c.7172-36del (n.7172-36del)
c.7187-36del (n.7187-36del)
c.1484-36del (n.1484-36del)
 gnomAD v4
Xg.31774228G>ACA147855DMDc.2156-36C>T (n.2156-36C>T)
c.-71-36C>T (n.-71-36C>T)
n.971-36C>T
n.893-36C>T
n.802-36C>T
c.7310-36C>T (n.7310-36C>T)
c.3278-36C>T (n.3278-36C>T)
c.299-36C>T (n.299-36C>T)
c.398-36C>T (n.398-36C>T)
c.7298-36C>T (n.7298-36C>T)
c.67-36C>T (n.67-36C>T)
c.7295-36C>T (n.7295-36C>T)
c.7307-36C>T (n.7307-36C>T)
c.7286-36C>T (n.7286-36C>T)
c.6941-36C>T (n.6941-36C>T)
c.3287-36C>T (n.3287-36C>T)
c.7181-36C>T (n.7181-36C>T)
c.7172-36C>T (n.7172-36C>T)
c.7187-36C>T (n.7187-36C>T)
c.1484-36C>T (n.1484-36C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774228G=CA2422548702DMDc.2156-36C= (n.2156-36C=)
c.-71-36C= (n.-71-36C=)
n.971-36C=
n.893-36C=
n.802-36C=
c.7310-36C= (n.7310-36C=)
c.3278-36C= (n.3278-36C=)
c.299-36C= (n.299-36C=)
c.398-36C= (n.398-36C=)
c.7298-36C= (n.7298-36C=)
c.67-36C= (n.67-36C=)
c.7295-36C= (n.7295-36C=)
c.7307-36C= (n.7307-36C=)
c.7286-36C= (n.7286-36C=)
c.6941-36C= (n.6941-36C=)
c.3287-36C= (n.3287-36C=)
c.7181-36C= (n.7181-36C=)
c.7172-36C= (n.7172-36C=)
c.7187-36C= (n.7187-36C=)
c.1484-36C= (n.1484-36C=)
Xg.31774228G>TCA2693390367DMDc.2156-36C>A (n.2156-36C>A)
c.-71-36C>A (n.-71-36C>A)
n.971-36C>A
n.893-36C>A
n.802-36C>A
c.7310-36C>A (n.7310-36C>A)
c.3278-36C>A (n.3278-36C>A)
c.299-36C>A (n.299-36C>A)
c.398-36C>A (n.398-36C>A)
c.7298-36C>A (n.7298-36C>A)
c.67-36C>A (n.67-36C>A)
c.7295-36C>A (n.7295-36C>A)
c.7307-36C>A (n.7307-36C>A)
c.7286-36C>A (n.7286-36C>A)
c.6941-36C>A (n.6941-36C>A)
c.3287-36C>A (n.3287-36C>A)
c.7181-36C>A (n.7181-36C>A)
c.7172-36C>A (n.7172-36C>A)
c.7187-36C>A (n.7187-36C>A)
c.1484-36C>A (n.1484-36C>A)
 gnomAD v4
Xg.31774231G>ACA2693390368DMDc.2156-39C>T (n.2156-39C>T)
c.-71-39C>T (n.-71-39C>T)
n.971-39C>T
n.893-39C>T
n.802-39C>T
c.7310-39C>T (n.7310-39C>T)
c.3278-39C>T (n.3278-39C>T)
c.299-39C>T (n.299-39C>T)
c.398-39C>T (n.398-39C>T)
c.7298-39C>T (n.7298-39C>T)
c.67-39C>T (n.67-39C>T)
c.7295-39C>T (n.7295-39C>T)
c.7307-39C>T (n.7307-39C>T)
c.7286-39C>T (n.7286-39C>T)
c.6941-39C>T (n.6941-39C>T)
c.3287-39C>T (n.3287-39C>T)
c.7181-39C>T (n.7181-39C>T)
c.7172-39C>T (n.7172-39C>T)
c.7187-39C>T (n.7187-39C>T)
c.1484-39C>T (n.1484-39C>T)
 gnomAD v4
Xg.31774231G>TCA2693390369DMDc.2156-39C>A (n.2156-39C>A)
c.-71-39C>A (n.-71-39C>A)
n.971-39C>A
n.893-39C>A
n.802-39C>A
c.7310-39C>A (n.7310-39C>A)
c.3278-39C>A (n.3278-39C>A)
c.299-39C>A (n.299-39C>A)
c.398-39C>A (n.398-39C>A)
c.7298-39C>A (n.7298-39C>A)
c.67-39C>A (n.67-39C>A)
c.7295-39C>A (n.7295-39C>A)
c.7307-39C>A (n.7307-39C>A)
c.7286-39C>A (n.7286-39C>A)
c.6941-39C>A (n.6941-39C>A)
c.3287-39C>A (n.3287-39C>A)
c.7181-39C>A (n.7181-39C>A)
c.7172-39C>A (n.7172-39C>A)
c.7187-39C>A (n.7187-39C>A)
c.1484-39C>A (n.1484-39C>A)
 gnomAD v4
Xg.31774240A=CA2422548703DMDc.2156-48T= (n.2156-48T=)
c.-71-48T= (n.-71-48T=)
n.971-48T=
n.893-48T=
n.802-48T=
c.7310-48T= (n.7310-48T=)
c.3278-48T= (n.3278-48T=)
c.299-48T= (n.299-48T=)
c.398-48T= (n.398-48T=)
c.7298-48T= (n.7298-48T=)
c.67-48T= (n.67-48T=)
c.7295-48T= (n.7295-48T=)
c.7307-48T= (n.7307-48T=)
c.7286-48T= (n.7286-48T=)
c.6941-48T= (n.6941-48T=)
c.3287-48T= (n.3287-48T=)
c.7181-48T= (n.7181-48T=)
c.7172-48T= (n.7172-48T=)
c.7187-48T= (n.7187-48T=)
c.1484-48T= (n.1484-48T=)
Xg.31774240A>CCA641209488DMDc.2156-48T>G (n.2156-48T>G)
c.-71-48T>G (n.-71-48T>G)
n.971-48T>G
n.893-48T>G
n.802-48T>G
c.7310-48T>G (n.7310-48T>G)
c.3278-48T>G (n.3278-48T>G)
c.299-48T>G (n.299-48T>G)
c.398-48T>G (n.398-48T>G)
c.7298-48T>G (n.7298-48T>G)
c.67-48T>G (n.67-48T>G)
c.7295-48T>G (n.7295-48T>G)
c.7307-48T>G (n.7307-48T>G)
c.7286-48T>G (n.7286-48T>G)
c.6941-48T>G (n.6941-48T>G)
c.3287-48T>G (n.3287-48T>G)
c.7181-48T>G (n.7181-48T>G)
c.7172-48T>G (n.7172-48T>G)
c.7187-48T>G (n.7187-48T>G)
c.1484-48T>G (n.1484-48T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774242_31774244delinsATTCA2422548704DMDc.2156-52_2156-50delinsAAT (n.2156-52_2156-50delinsAAT)
c.-71-52_-71-50delinsAAT (n.-71-52_-71-50delinsAAT)
n.971-52_971-50delinsAAT
n.893-52_893-50delinsAAT
n.802-52_802-50delinsAAT
c.7310-52_7310-50delinsAAT (n.7310-52_7310-50delinsAAT)
c.3278-52_3278-50delinsAAT (n.3278-52_3278-50delinsAAT)
c.299-52_299-50delinsAAT (n.299-52_299-50delinsAAT)
c.398-52_398-50delinsAAT (n.398-52_398-50delinsAAT)
c.7298-52_7298-50delinsAAT (n.7298-52_7298-50delinsAAT)
c.67-52_67-50delinsAAT (n.67-52_67-50delinsAAT)
c.7295-52_7295-50delinsAAT (n.7295-52_7295-50delinsAAT)
c.7307-52_7307-50delinsAAT (n.7307-52_7307-50delinsAAT)
c.7286-52_7286-50delinsAAT (n.7286-52_7286-50delinsAAT)
c.6941-52_6941-50delinsAAT (n.6941-52_6941-50delinsAAT)
c.3287-52_3287-50delinsAAT (n.3287-52_3287-50delinsAAT)
c.7181-52_7181-50delinsAAT (n.7181-52_7181-50delinsAAT)
c.7172-52_7172-50delinsAAT (n.7172-52_7172-50delinsAAT)
c.7187-52_7187-50delinsAAT (n.7187-52_7187-50delinsAAT)
c.1484-52_1484-50delinsAAT (n.1484-52_1484-50delinsAAT)
Xg.31774243T>ACA2422548706DMDc.2156-51A>T (n.2156-51A>T)
c.-71-51A>T (n.-71-51A>T)
n.971-51A>T
n.893-51A>T
n.802-51A>T
c.7310-51A>T (n.7310-51A>T)
c.3278-51A>T (n.3278-51A>T)
c.299-51A>T (n.299-51A>T)
c.398-51A>T (n.398-51A>T)
c.7298-51A>T (n.7298-51A>T)
c.67-51A>T (n.67-51A>T)
c.7295-51A>T (n.7295-51A>T)
c.7307-51A>T (n.7307-51A>T)
c.7286-51A>T (n.7286-51A>T)
c.6941-51A>T (n.6941-51A>T)
c.3287-51A>T (n.3287-51A>T)
c.7181-51A>T (n.7181-51A>T)
c.7172-51A>T (n.7172-51A>T)
c.7187-51A>T (n.7187-51A>T)
c.1484-51A>T (n.1484-51A>T)
 dbSNP
Xg.31774243T>CCA2579579145DMDc.2156-51A>G (n.2156-51A>G)
c.-71-51A>G (n.-71-51A>G)
n.971-51A>G
n.893-51A>G
n.802-51A>G
c.7310-51A>G (n.7310-51A>G)
c.3278-51A>G (n.3278-51A>G)
c.299-51A>G (n.299-51A>G)
c.398-51A>G (n.398-51A>G)
c.7298-51A>G (n.7298-51A>G)
c.67-51A>G (n.67-51A>G)
c.7295-51A>G (n.7295-51A>G)
c.7307-51A>G (n.7307-51A>G)
c.7286-51A>G (n.7286-51A>G)
c.6941-51A>G (n.6941-51A>G)
c.3287-51A>G (n.3287-51A>G)
c.7181-51A>G (n.7181-51A>G)
c.7172-51A>G (n.7172-51A>G)
c.7187-51A>G (n.7187-51A>G)
c.1484-51A>G (n.1484-51A>G)
Xg.31774243T=CA2422548705DMDc.2156-51A= (n.2156-51A=)
c.-71-51A= (n.-71-51A=)
n.971-51A=
n.893-51A=
n.802-51A=
c.7310-51A= (n.7310-51A=)
c.3278-51A= (n.3278-51A=)
c.299-51A= (n.299-51A=)
c.398-51A= (n.398-51A=)
c.7298-51A= (n.7298-51A=)
c.67-51A= (n.67-51A=)
c.7295-51A= (n.7295-51A=)
c.7307-51A= (n.7307-51A=)
c.7286-51A= (n.7286-51A=)
c.6941-51A= (n.6941-51A=)
c.3287-51A= (n.3287-51A=)
c.7181-51A= (n.7181-51A=)
c.7172-51A= (n.7172-51A=)
c.7187-51A= (n.7187-51A=)
c.1484-51A= (n.1484-51A=)
Xg.31774243_31774244delCA10378297DMDc.2156-52_2156-51del (n.2156-52_2156-51del)
c.-71-52_-71-51del (n.-71-52_-71-51del)
n.971-52_971-51del
n.893-52_893-51del
n.802-52_802-51del
c.7310-52_7310-51del (n.7310-52_7310-51del)
c.3278-52_3278-51del (n.3278-52_3278-51del)
c.299-52_299-51del (n.299-52_299-51del)
c.398-52_398-51del (n.398-52_398-51del)
c.7298-52_7298-51del (n.7298-52_7298-51del)
c.67-52_67-51del (n.67-52_67-51del)
c.7295-52_7295-51del (n.7295-52_7295-51del)
c.7307-52_7307-51del (n.7307-52_7307-51del)
c.7286-52_7286-51del (n.7286-52_7286-51del)
c.6941-52_6941-51del (n.6941-52_6941-51del)
c.3287-52_3287-51del (n.3287-52_3287-51del)
c.7181-52_7181-51del (n.7181-52_7181-51del)
c.7172-52_7172-51del (n.7172-52_7172-51del)
c.7187-52_7187-51del (n.7187-52_7187-51del)
c.1484-52_1484-51del (n.1484-52_1484-51del)
 dbSNP ExAC
Xg.31774245A>GCA2693390370DMDc.2156-53T>C (n.2156-53T>C)
c.-71-53T>C (n.-71-53T>C)
n.971-53T>C
n.893-53T>C
n.802-53T>C
c.7310-53T>C (n.7310-53T>C)
c.3278-53T>C (n.3278-53T>C)
c.299-53T>C (n.299-53T>C)
c.398-53T>C (n.398-53T>C)
c.7298-53T>C (n.7298-53T>C)
c.67-53T>C (n.67-53T>C)
c.7295-53T>C (n.7295-53T>C)
c.7307-53T>C (n.7307-53T>C)
c.7286-53T>C (n.7286-53T>C)
c.6941-53T>C (n.6941-53T>C)
c.3287-53T>C (n.3287-53T>C)
c.7181-53T>C (n.7181-53T>C)
c.7172-53T>C (n.7172-53T>C)
c.7187-53T>C (n.7187-53T>C)
c.1484-53T>C (n.1484-53T>C)
 gnomAD v4
Xg.31774246G>ACA2579579146DMDc.2156-54C>T (n.2156-54C>T)
c.-71-54C>T (n.-71-54C>T)
n.971-54C>T
n.893-54C>T
n.802-54C>T
c.7310-54C>T (n.7310-54C>T)
c.3278-54C>T (n.3278-54C>T)
c.299-54C>T (n.299-54C>T)
c.398-54C>T (n.398-54C>T)
c.7298-54C>T (n.7298-54C>T)
c.67-54C>T (n.67-54C>T)
c.7295-54C>T (n.7295-54C>T)
c.7307-54C>T (n.7307-54C>T)
c.7286-54C>T (n.7286-54C>T)
c.6941-54C>T (n.6941-54C>T)
c.3287-54C>T (n.3287-54C>T)
c.7181-54C>T (n.7181-54C>T)
c.7172-54C>T (n.7172-54C>T)
c.7187-54C>T (n.7187-54C>T)
c.1484-54C>T (n.1484-54C>T)

Number of alleles fetched