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.31774011C>ACA412658802DMDc.2337G>T (p.Arg779Ser)
c.111G>T (p.Arg37Ser)
n.1152G>T
n.1074G>T
n.983G>T
c.7491G>T (p.Arg2497Ser)
c.3459G>T (p.Arg1153Ser)
c.480G>T (p.Arg160Ser)
c.579G>T (p.Arg193Ser)
c.7479G>T (p.Arg2493Ser)
c.248G>T (n.248G>T)
c.7476G>T (p.Arg2492Ser)
c.7488G>T (p.Arg2496Ser)
c.7467G>T (p.Arg2489Ser)
c.7122G>T (p.Arg2374Ser)
c.3468G>T (p.Arg1156Ser)
c.7362G>T (p.Arg2454Ser)
c.7353G>T (p.Arg2451Ser)
c.7368G>T (p.Arg2456Ser)
c.1665G>T (p.Arg555Ser)
Xg.31774011C>GCA412658804DMDc.2337G>C (p.Arg779Ser)
c.111G>C (p.Arg37Ser)
n.1152G>C
n.1074G>C
n.983G>C
c.7491G>C (p.Arg2497Ser)
c.3459G>C (p.Arg1153Ser)
c.480G>C (p.Arg160Ser)
c.579G>C (p.Arg193Ser)
c.7479G>C (p.Arg2493Ser)
c.248G>C (n.248G>C)
c.7476G>C (p.Arg2492Ser)
c.7488G>C (p.Arg2496Ser)
c.7467G>C (p.Arg2489Ser)
c.7122G>C (p.Arg2374Ser)
c.3468G>C (p.Arg1156Ser)
c.7362G>C (p.Arg2454Ser)
c.7353G>C (p.Arg2451Ser)
c.7368G>C (p.Arg2456Ser)
c.1665G>C (p.Arg555Ser)
 ClinVar
Xg.31774011C>TCA515859312DMDc.2337G>A (p.Arg779=)
c.111G>A (p.Arg37=)
n.1152G>A
n.1074G>A
n.983G>A
c.7491G>A (p.Arg2497=)
c.3459G>A (p.Arg1153=)
c.480G>A (p.Arg160=)
c.579G>A (p.Arg193=)
c.7479G>A (p.Arg2493=)
c.248G>A (n.248G>A)
c.7476G>A (p.Arg2492=)
c.7488G>A (p.Arg2496=)
c.7467G>A (p.Arg2489=)
c.7122G>A (p.Arg2374=)
c.3468G>A (p.Arg1156=)
c.7362G>A (p.Arg2454=)
c.7353G>A (p.Arg2451=)
c.7368G>A (p.Arg2456=)
c.1665G>A (p.Arg555=)
 ClinVar dbSNP
Xg.31774012C>ACA412658806DMDc.2336G>T (p.Arg779Met)
c.110G>T (p.Arg37Met)
n.1151G>T
n.1073G>T
n.982G>T
c.7490G>T (p.Arg2497Met)
c.3458G>T (p.Arg1153Met)
c.479G>T (p.Arg160Met)
c.578G>T (p.Arg193Met)
c.7478G>T (p.Arg2493Met)
c.247G>T (n.247G>T)
c.7475G>T (p.Arg2492Met)
c.7487G>T (p.Arg2496Met)
c.7466G>T (p.Arg2489Met)
c.7121G>T (p.Arg2374Met)
c.3467G>T (p.Arg1156Met)
c.7361G>T (p.Arg2454Met)
c.7352G>T (p.Arg2451Met)
c.7367G>T (p.Arg2456Met)
c.1664G>T (p.Arg555Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.31774012C=CA2422548624DMDc.2336G= (p.Arg779=)
c.110G= (p.Arg37=)
n.1151G=
n.1073G=
n.982G=
c.7490G= (p.Arg2497=)
c.3458G= (p.Arg1153=)
c.479G= (p.Arg160=)
c.578G= (p.Arg193=)
c.7478G= (p.Arg2493=)
c.247G= (n.247G=)
c.7475G= (p.Arg2492=)
c.7487G= (p.Arg2496=)
c.7466G= (p.Arg2489=)
c.7121G= (p.Arg2374=)
c.3467G= (p.Arg1156=)
c.7361G= (p.Arg2454=)
c.7352G= (p.Arg2451=)
c.7367G= (p.Arg2456=)
c.1664G= (p.Arg555=)
Xg.31774012C>GCA412658807DMDc.2336G>C (p.Arg779Thr)
c.110G>C (p.Arg37Thr)
n.1151G>C
n.1073G>C
n.982G>C
c.7490G>C (p.Arg2497Thr)
c.3458G>C (p.Arg1153Thr)
c.479G>C (p.Arg160Thr)
c.578G>C (p.Arg193Thr)
c.7478G>C (p.Arg2493Thr)
c.247G>C (n.247G>C)
c.7475G>C (p.Arg2492Thr)
c.7487G>C (p.Arg2496Thr)
c.7466G>C (p.Arg2489Thr)
c.7121G>C (p.Arg2374Thr)
c.3467G>C (p.Arg1156Thr)
c.7361G>C (p.Arg2454Thr)
c.7352G>C (p.Arg2451Thr)
c.7367G>C (p.Arg2456Thr)
c.1664G>C (p.Arg555Thr)
Xg.31774012C>TCA412658809DMDc.2336G>A (p.Arg779Lys)
c.110G>A (p.Arg37Lys)
n.1151G>A
n.1073G>A
n.982G>A
c.7490G>A (p.Arg2497Lys)
c.3458G>A (p.Arg1153Lys)
c.479G>A (p.Arg160Lys)
c.578G>A (p.Arg193Lys)
c.7478G>A (p.Arg2493Lys)
c.247G>A (n.247G>A)
c.7475G>A (p.Arg2492Lys)
c.7487G>A (p.Arg2496Lys)
c.7466G>A (p.Arg2489Lys)
c.7121G>A (p.Arg2374Lys)
c.3467G>A (p.Arg1156Lys)
c.7361G>A (p.Arg2454Lys)
c.7352G>A (p.Arg2451Lys)
c.7367G>A (p.Arg2456Lys)
c.1664G>A (p.Arg555Lys)
Xg.31774013T>ACA412658811DMDc.2335A>T (p.Arg779Trp)
c.109A>T (p.Arg37Trp)
n.1150A>T
n.1072A>T
n.981A>T
c.7489A>T (p.Arg2497Trp)
c.3457A>T (p.Arg1153Trp)
c.478A>T (p.Arg160Trp)
c.577A>T (p.Arg193Trp)
c.7477A>T (p.Arg2493Trp)
c.246A>T (n.246A>T)
c.7474A>T (p.Arg2492Trp)
c.7486A>T (p.Arg2496Trp)
c.7465A>T (p.Arg2489Trp)
c.7120A>T (p.Arg2374Trp)
c.3466A>T (p.Arg1156Trp)
c.7360A>T (p.Arg2454Trp)
c.7351A>T (p.Arg2451Trp)
c.7366A>T (p.Arg2456Trp)
c.1663A>T (p.Arg555Trp)
Xg.31774013T>CCA412658813DMDc.2335A>G (p.Arg779Gly)
c.109A>G (p.Arg37Gly)
n.1150A>G
n.1072A>G
n.981A>G
c.7489A>G (p.Arg2497Gly)
c.3457A>G (p.Arg1153Gly)
c.478A>G (p.Arg160Gly)
c.577A>G (p.Arg193Gly)
c.7477A>G (p.Arg2493Gly)
c.246A>G (n.246A>G)
c.7474A>G (p.Arg2492Gly)
c.7486A>G (p.Arg2496Gly)
c.7465A>G (p.Arg2489Gly)
c.7120A>G (p.Arg2374Gly)
c.3466A>G (p.Arg1156Gly)
c.7360A>G (p.Arg2454Gly)
c.7351A>G (p.Arg2451Gly)
c.7366A>G (p.Arg2456Gly)
c.1663A>G (p.Arg555Gly)
Xg.31774013T>GCA515859313DMDc.2335A>C (p.Arg779=)
c.109A>C (p.Arg37=)
n.1150A>C
n.1072A>C
n.981A>C
c.7489A>C (p.Arg2497=)
c.3457A>C (p.Arg1153=)
c.478A>C (p.Arg160=)
c.577A>C (p.Arg193=)
c.7477A>C (p.Arg2493=)
c.246A>C (n.246A>C)
c.7474A>C (p.Arg2492=)
c.7486A>C (p.Arg2496=)
c.7465A>C (p.Arg2489=)
c.7120A>C (p.Arg2374=)
c.3466A>C (p.Arg1156=)
c.7360A>C (p.Arg2454=)
c.7351A>C (p.Arg2451=)
c.7366A>C (p.Arg2456=)
c.1663A>C (p.Arg555=)
Xg.31774014C>ACA412658815DMDc.2334G>T (p.Gln778His)
c.108G>T (p.Gln36His)
n.1149G>T
n.1071G>T
n.980G>T
c.7488G>T (p.Gln2496His)
c.3456G>T (p.Gln1152His)
c.477G>T (p.Gln159His)
c.576G>T (p.Gln192His)
c.7476G>T (p.Gln2492His)
c.245G>T (n.245G>T)
c.7473G>T (p.Gln2491His)
c.7485G>T (p.Gln2495His)
c.7464G>T (p.Gln2488His)
c.7119G>T (p.Gln2373His)
c.3465G>T (p.Gln1155His)
c.7359G>T (p.Gln2453His)
c.7350G>T (p.Gln2450His)
c.7365G>T (p.Gln2455His)
c.1662G>T (p.Gln554His)
Xg.31774014C>GCA412658817DMDc.2334G>C (p.Gln778His)
c.108G>C (p.Gln36His)
n.1149G>C
n.1071G>C
n.980G>C
c.7488G>C (p.Gln2496His)
c.3456G>C (p.Gln1152His)
c.477G>C (p.Gln159His)
c.576G>C (p.Gln192His)
c.7476G>C (p.Gln2492His)
c.245G>C (n.245G>C)
c.7473G>C (p.Gln2491His)
c.7485G>C (p.Gln2495His)
c.7464G>C (p.Gln2488His)
c.7119G>C (p.Gln2373His)
c.3465G>C (p.Gln1155His)
c.7359G>C (p.Gln2453His)
c.7350G>C (p.Gln2450His)
c.7365G>C (p.Gln2455His)
c.1662G>C (p.Gln554His)
Xg.31774014C>TCA515859314DMDc.2334G>A (p.Gln778=)
c.108G>A (p.Gln36=)
n.1149G>A
n.1071G>A
n.980G>A
c.7488G>A (p.Gln2496=)
c.3456G>A (p.Gln1152=)
c.477G>A (p.Gln159=)
c.576G>A (p.Gln192=)
c.7476G>A (p.Gln2492=)
c.245G>A (n.245G>A)
c.7473G>A (p.Gln2491=)
c.7485G>A (p.Gln2495=)
c.7464G>A (p.Gln2488=)
c.7119G>A (p.Gln2373=)
c.3465G>A (p.Gln1155=)
c.7359G>A (p.Gln2453=)
c.7350G>A (p.Gln2450=)
c.7365G>A (p.Gln2455=)
c.1662G>A (p.Gln554=)
Xg.31774015T>ACA412658819DMDc.2333A>T (p.Gln778Leu)
c.107A>T (p.Gln36Leu)
n.1148A>T
n.1070A>T
n.979A>T
c.7487A>T (p.Gln2496Leu)
c.3455A>T (p.Gln1152Leu)
c.476A>T (p.Gln159Leu)
c.575A>T (p.Gln192Leu)
c.7475A>T (p.Gln2492Leu)
c.244A>T (n.244A>T)
c.7472A>T (p.Gln2491Leu)
c.7484A>T (p.Gln2495Leu)
c.7463A>T (p.Gln2488Leu)
c.7118A>T (p.Gln2373Leu)
c.3464A>T (p.Gln1155Leu)
c.7358A>T (p.Gln2453Leu)
c.7349A>T (p.Gln2450Leu)
c.7364A>T (p.Gln2455Leu)
c.1661A>T (p.Gln554Leu)
Xg.31774015T>CCA412658821DMDc.2333A>G (p.Gln778Arg)
c.107A>G (p.Gln36Arg)
n.1148A>G
n.1070A>G
n.979A>G
c.7487A>G (p.Gln2496Arg)
c.3455A>G (p.Gln1152Arg)
c.476A>G (p.Gln159Arg)
c.575A>G (p.Gln192Arg)
c.7475A>G (p.Gln2492Arg)
c.244A>G (n.244A>G)
c.7472A>G (p.Gln2491Arg)
c.7484A>G (p.Gln2495Arg)
c.7463A>G (p.Gln2488Arg)
c.7118A>G (p.Gln2373Arg)
c.3464A>G (p.Gln1155Arg)
c.7358A>G (p.Gln2453Arg)
c.7349A>G (p.Gln2450Arg)
c.7364A>G (p.Gln2455Arg)
c.1661A>G (p.Gln554Arg)
Xg.31774015T>GCA412658822DMDc.2333A>C (p.Gln778Pro)
c.107A>C (p.Gln36Pro)
n.1148A>C
n.1070A>C
n.979A>C
c.7487A>C (p.Gln2496Pro)
c.3455A>C (p.Gln1152Pro)
c.476A>C (p.Gln159Pro)
c.575A>C (p.Gln192Pro)
c.7475A>C (p.Gln2492Pro)
c.244A>C (n.244A>C)
c.7472A>C (p.Gln2491Pro)
c.7484A>C (p.Gln2495Pro)
c.7463A>C (p.Gln2488Pro)
c.7118A>C (p.Gln2373Pro)
c.3464A>C (p.Gln1155Pro)
c.7358A>C (p.Gln2453Pro)
c.7349A>C (p.Gln2450Pro)
c.7364A>C (p.Gln2455Pro)
c.1661A>C (p.Gln554Pro)
Xg.31774017_31774018delCA2830782561DMDc.2332_2333del (p.Gln778GlufsTer6)
c.106_107del (p.Gln36GlufsTer6)
n.1147_1148del
n.1069_1070del
n.978_979del
c.7486_7487del (p.Gln2496GlufsTer6)
c.3454_3455del (p.Gln1152GlufsTer6)
c.475_476del (p.Gln159GlufsTer6)
c.574_575del (p.Gln192GlufsTer6)
c.7474_7475del (p.Gln2492GlufsTer6)
c.243_244del (n.243_244del)
c.7471_7472del (p.Gln2491GlufsTer6)
c.7483_7484del (p.Gln2495GlufsTer6)
c.7462_7463del (p.Gln2488GlufsTer6)
c.7117_7118del (p.Gln2373GlufsTer6)
c.3463_3464del (p.Gln1155GlufsTer6)
c.7357_7358del (p.Gln2453GlufsTer6)
c.7348_7349del (p.Gln2450GlufsTer6)
c.7363_7364del (p.Gln2455GlufsTer6)
c.1660_1661del (p.Gln554GlufsTer6)
Xg.31774016G>ACA412658825DMDc.2332C>T (p.Gln778Ter)
c.106C>T (p.Gln36Ter)
n.1147C>T
n.1069C>T
n.978C>T
c.7486C>T (p.Gln2496Ter)
c.3454C>T (p.Gln1152Ter)
c.475C>T (p.Gln159Ter)
c.574C>T (p.Gln192Ter)
c.7474C>T (p.Gln2492Ter)
c.243C>T (n.243C>T)
c.7471C>T (p.Gln2491Ter)
c.7483C>T (p.Gln2495Ter)
c.7462C>T (p.Gln2488Ter)
c.7117C>T (p.Gln2373Ter)
c.3463C>T (p.Gln1155Ter)
c.7357C>T (p.Gln2453Ter)
c.7348C>T (p.Gln2450Ter)
c.7363C>T (p.Gln2455Ter)
c.1660C>T (p.Gln554Ter)
Xg.31774016G>CCA412658827DMDc.2332C>G (p.Gln778Glu)
c.106C>G (p.Gln36Glu)
n.1147C>G
n.1069C>G
n.978C>G
c.7486C>G (p.Gln2496Glu)
c.3454C>G (p.Gln1152Glu)
c.475C>G (p.Gln159Glu)
c.574C>G (p.Gln192Glu)
c.7474C>G (p.Gln2492Glu)
c.243C>G (n.243C>G)
c.7471C>G (p.Gln2491Glu)
c.7483C>G (p.Gln2495Glu)
c.7462C>G (p.Gln2488Glu)
c.7117C>G (p.Gln2373Glu)
c.3463C>G (p.Gln1155Glu)
c.7357C>G (p.Gln2453Glu)
c.7348C>G (p.Gln2450Glu)
c.7363C>G (p.Gln2455Glu)
c.1660C>G (p.Gln554Glu)
Xg.31774016G=CA2422548625DMDc.2332C= (p.Gln778=)
c.106C= (p.Gln36=)
n.1147C=
n.1069C=
n.978C=
c.7486C= (p.Gln2496=)
c.3454C= (p.Gln1152=)
c.475C= (p.Gln159=)
c.574C= (p.Gln192=)
c.7474C= (p.Gln2492=)
c.243C= (n.243C=)
c.7471C= (p.Gln2491=)
c.7483C= (p.Gln2495=)
c.7462C= (p.Gln2488=)
c.7117C= (p.Gln2373=)
c.3463C= (p.Gln1155=)
c.7357C= (p.Gln2453=)
c.7348C= (p.Gln2450=)
c.7363C= (p.Gln2455=)
c.1660C= (p.Gln554=)
Xg.31774016G>TCA10378270DMDc.2332C>A (p.Gln778Lys)
c.106C>A (p.Gln36Lys)
n.1147C>A
n.1069C>A
n.978C>A
c.7486C>A (p.Gln2496Lys)
c.3454C>A (p.Gln1152Lys)
c.475C>A (p.Gln159Lys)
c.574C>A (p.Gln192Lys)
c.7474C>A (p.Gln2492Lys)
c.243C>A (n.243C>A)
c.7471C>A (p.Gln2491Lys)
c.7483C>A (p.Gln2495Lys)
c.7462C>A (p.Gln2488Lys)
c.7117C>A (p.Gln2373Lys)
c.3463C>A (p.Gln1155Lys)
c.7357C>A (p.Gln2453Lys)
c.7348C>A (p.Gln2450Lys)
c.7363C>A (p.Gln2455Lys)
c.1660C>A (p.Gln554Lys)
 dbSNP ExAC
Xg.31774017T>ACA515859315DMDc.2331A>T (p.Ser777=)
c.105A>T (p.Ser35=)
n.1146A>T
n.1068A>T
n.977A>T
c.7485A>T (p.Ser2495=)
c.3453A>T (p.Ser1151=)
c.474A>T (p.Ser158=)
c.573A>T (p.Ser191=)
c.7473A>T (p.Ser2491=)
c.242A>T (n.242A>T)
c.7470A>T (p.Ser2490=)
c.7482A>T (p.Ser2494=)
c.7461A>T (p.Ser2487=)
c.7116A>T (p.Ser2372=)
c.3462A>T (p.Ser1154=)
c.7356A>T (p.Ser2452=)
c.7347A>T (p.Ser2449=)
c.7362A>T (p.Ser2454=)
c.1659A>T (p.Ser553=)
Xg.31774017T>CCA515859316DMDc.2331A>G (p.Ser777=)
c.105A>G (p.Ser35=)
n.1146A>G
n.1068A>G
n.977A>G
c.7485A>G (p.Ser2495=)
c.3453A>G (p.Ser1151=)
c.474A>G (p.Ser158=)
c.573A>G (p.Ser191=)
c.7473A>G (p.Ser2491=)
c.242A>G (n.242A>G)
c.7470A>G (p.Ser2490=)
c.7482A>G (p.Ser2494=)
c.7461A>G (p.Ser2487=)
c.7116A>G (p.Ser2372=)
c.3462A>G (p.Ser1154=)
c.7356A>G (p.Ser2452=)
c.7347A>G (p.Ser2449=)
c.7362A>G (p.Ser2454=)
c.1659A>G (p.Ser553=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31774017T>GCA515859317DMDc.2331A>C (p.Ser777=)
c.105A>C (p.Ser35=)
n.1146A>C
n.1068A>C
n.977A>C
c.7485A>C (p.Ser2495=)
c.3453A>C (p.Ser1151=)
c.474A>C (p.Ser158=)
c.573A>C (p.Ser191=)
c.7473A>C (p.Ser2491=)
c.242A>C (n.242A>C)
c.7470A>C (p.Ser2490=)
c.7482A>C (p.Ser2494=)
c.7461A>C (p.Ser2487=)
c.7116A>C (p.Ser2372=)
c.3462A>C (p.Ser1154=)
c.7356A>C (p.Ser2452=)
c.7347A>C (p.Ser2449=)
c.7362A>C (p.Ser2454=)
c.1659A>C (p.Ser553=)
Xg.31774017T=CA2422548626DMDc.2331A= (p.Ser777=)
c.105A= (p.Ser35=)
n.1146A=
n.1068A=
n.977A=
c.7485A= (p.Ser2495=)
c.3453A= (p.Ser1151=)
c.474A= (p.Ser158=)
c.573A= (p.Ser191=)
c.7473A= (p.Ser2491=)
c.242A= (n.242A=)
c.7470A= (p.Ser2490=)
c.7482A= (p.Ser2494=)
c.7461A= (p.Ser2487=)
c.7116A= (p.Ser2372=)
c.3462A= (p.Ser1154=)
c.7356A= (p.Ser2452=)
c.7347A= (p.Ser2449=)
c.7362A= (p.Ser2454=)
c.1659A= (p.Ser553=)
Xg.31774018G>ACA412658830DMDc.2330C>T (p.Ser777Leu)
c.104C>T (p.Ser35Leu)
n.1145C>T
n.1067C>T
n.976C>T
c.7484C>T (p.Ser2495Leu)
c.3452C>T (p.Ser1151Leu)
c.473C>T (p.Ser158Leu)
c.572C>T (p.Ser191Leu)
c.7472C>T (p.Ser2491Leu)
c.241C>T (n.241C>T)
c.7469C>T (p.Ser2490Leu)
c.7481C>T (p.Ser2494Leu)
c.7460C>T (p.Ser2487Leu)
c.7115C>T (p.Ser2372Leu)
c.3461C>T (p.Ser1154Leu)
c.7355C>T (p.Ser2452Leu)
c.7346C>T (p.Ser2449Leu)
c.7361C>T (p.Ser2454Leu)
c.1658C>T (p.Ser553Leu)
Xg.31774018G>CCA412658832DMDc.2330C>G (p.Ser777Ter)
c.104C>G (p.Ser35Ter)
n.1145C>G
n.1067C>G
n.976C>G
c.7484C>G (p.Ser2495Ter)
c.3452C>G (p.Ser1151Ter)
c.473C>G (p.Ser158Ter)
c.572C>G (p.Ser191Ter)
c.7472C>G (p.Ser2491Ter)
c.241C>G (n.241C>G)
c.7469C>G (p.Ser2490Ter)
c.7481C>G (p.Ser2494Ter)
c.7460C>G (p.Ser2487Ter)
c.7115C>G (p.Ser2372Ter)
c.3461C>G (p.Ser1154Ter)
c.7355C>G (p.Ser2452Ter)
c.7346C>G (p.Ser2449Ter)
c.7361C>G (p.Ser2454Ter)
c.1658C>G (p.Ser553Ter)
Xg.31774018G>TCA412658833DMDc.2330C>A (p.Ser777Ter)
c.104C>A (p.Ser35Ter)
n.1145C>A
n.1067C>A
n.976C>A
c.7484C>A (p.Ser2495Ter)
c.3452C>A (p.Ser1151Ter)
c.473C>A (p.Ser158Ter)
c.572C>A (p.Ser191Ter)
c.7472C>A (p.Ser2491Ter)
c.241C>A (n.241C>A)
c.7469C>A (p.Ser2490Ter)
c.7481C>A (p.Ser2494Ter)
c.7460C>A (p.Ser2487Ter)
c.7115C>A (p.Ser2372Ter)
c.3461C>A (p.Ser1154Ter)
c.7355C>A (p.Ser2452Ter)
c.7346C>A (p.Ser2449Ter)
c.7361C>A (p.Ser2454Ter)
c.1658C>A (p.Ser553Ter)
Xg.31774019A>CCA412658834DMDc.2329T>G (p.Ser777Ala)
c.103T>G (p.Ser35Ala)
n.1144T>G
n.1066T>G
n.975T>G
c.7483T>G (p.Ser2495Ala)
c.3451T>G (p.Ser1151Ala)
c.472T>G (p.Ser158Ala)
c.571T>G (p.Ser191Ala)
c.7471T>G (p.Ser2491Ala)
c.240T>G (n.240T>G)
c.7468T>G (p.Ser2490Ala)
c.7480T>G (p.Ser2494Ala)
c.7459T>G (p.Ser2487Ala)
c.7114T>G (p.Ser2372Ala)
c.3460T>G (p.Ser1154Ala)
c.7354T>G (p.Ser2452Ala)
c.7345T>G (p.Ser2449Ala)
c.7360T>G (p.Ser2454Ala)
c.1657T>G (p.Ser553Ala)
Xg.31774019A>GCA412658835DMDc.2329T>C (p.Ser777Pro)
c.103T>C (p.Ser35Pro)
n.1144T>C
n.1066T>C
n.975T>C
c.7483T>C (p.Ser2495Pro)
c.3451T>C (p.Ser1151Pro)
c.472T>C (p.Ser158Pro)
c.571T>C (p.Ser191Pro)
c.7471T>C (p.Ser2491Pro)
c.240T>C (n.240T>C)
c.7468T>C (p.Ser2490Pro)
c.7480T>C (p.Ser2494Pro)
c.7459T>C (p.Ser2487Pro)
c.7114T>C (p.Ser2372Pro)
c.3460T>C (p.Ser1154Pro)
c.7354T>C (p.Ser2452Pro)
c.7345T>C (p.Ser2449Pro)
c.7360T>C (p.Ser2454Pro)
c.1657T>C (p.Ser553Pro)
 gnomAD v4
Xg.31774019A>TCA412658836DMDc.2329T>A (p.Ser777Thr)
c.103T>A (p.Ser35Thr)
n.1144T>A
n.1066T>A
n.975T>A
c.7483T>A (p.Ser2495Thr)
c.3451T>A (p.Ser1151Thr)
c.472T>A (p.Ser158Thr)
c.571T>A (p.Ser191Thr)
c.7471T>A (p.Ser2491Thr)
c.240T>A (n.240T>A)
c.7468T>A (p.Ser2490Thr)
c.7480T>A (p.Ser2494Thr)
c.7459T>A (p.Ser2487Thr)
c.7114T>A (p.Ser2372Thr)
c.3460T>A (p.Ser1154Thr)
c.7354T>A (p.Ser2452Thr)
c.7345T>A (p.Ser2449Thr)
c.7360T>A (p.Ser2454Thr)
c.1657T>A (p.Ser553Thr)
Xg.31774020T>ACA412658838DMDc.2328A>T (p.Lys776Asn)
c.102A>T (p.Lys34Asn)
n.1143A>T
n.1065A>T
n.974A>T
c.7482A>T (p.Lys2494Asn)
c.3450A>T (p.Lys1150Asn)
c.471A>T (p.Lys157Asn)
c.570A>T (p.Lys190Asn)
c.7470A>T (p.Lys2490Asn)
c.239A>T (n.239A>T)
c.7467A>T (p.Lys2489Asn)
c.7479A>T (p.Lys2493Asn)
c.7458A>T (p.Lys2486Asn)
c.7113A>T (p.Lys2371Asn)
c.3459A>T (p.Lys1153Asn)
c.7353A>T (p.Lys2451Asn)
c.7344A>T (p.Lys2448Asn)
c.7359A>T (p.Lys2453Asn)
c.1656A>T (p.Lys552Asn)
Xg.31774020T>CCA515859318DMDc.2328A>G (p.Lys776=)
c.102A>G (p.Lys34=)
n.1143A>G
n.1065A>G
n.974A>G
c.7482A>G (p.Lys2494=)
c.3450A>G (p.Lys1150=)
c.471A>G (p.Lys157=)
c.570A>G (p.Lys190=)
c.7470A>G (p.Lys2490=)
c.239A>G (n.239A>G)
c.7467A>G (p.Lys2489=)
c.7479A>G (p.Lys2493=)
c.7458A>G (p.Lys2486=)
c.7113A>G (p.Lys2371=)
c.3459A>G (p.Lys1153=)
c.7353A>G (p.Lys2451=)
c.7344A>G (p.Lys2448=)
c.7359A>G (p.Lys2453=)
c.1656A>G (p.Lys552=)
Xg.31774020T>GCA412658837DMDc.2328A>C (p.Lys776Asn)
c.102A>C (p.Lys34Asn)
n.1143A>C
n.1065A>C
n.974A>C
c.7482A>C (p.Lys2494Asn)
c.3450A>C (p.Lys1150Asn)
c.471A>C (p.Lys157Asn)
c.570A>C (p.Lys190Asn)
c.7470A>C (p.Lys2490Asn)
c.239A>C (n.239A>C)
c.7467A>C (p.Lys2489Asn)
c.7479A>C (p.Lys2493Asn)
c.7458A>C (p.Lys2486Asn)
c.7113A>C (p.Lys2371Asn)
c.3459A>C (p.Lys1153Asn)
c.7353A>C (p.Lys2451Asn)
c.7344A>C (p.Lys2448Asn)
c.7359A>C (p.Lys2453Asn)
c.1656A>C (p.Lys552Asn)
Xg.31774021T>ACA412658839DMDc.2327A>T (p.Lys776Ile)
c.101A>T (p.Lys34Ile)
n.1142A>T
n.1064A>T
n.973A>T
c.7481A>T (p.Lys2494Ile)
c.3449A>T (p.Lys1150Ile)
c.470A>T (p.Lys157Ile)
c.569A>T (p.Lys190Ile)
c.7469A>T (p.Lys2490Ile)
c.238A>T (n.238A>T)
c.7466A>T (p.Lys2489Ile)
c.7478A>T (p.Lys2493Ile)
c.7457A>T (p.Lys2486Ile)
c.7112A>T (p.Lys2371Ile)
c.3458A>T (p.Lys1153Ile)
c.7352A>T (p.Lys2451Ile)
c.7343A>T (p.Lys2448Ile)
c.7358A>T (p.Lys2453Ile)
c.1655A>T (p.Lys552Ile)
Xg.31774021T>CCA412658840DMDc.2327A>G (p.Lys776Arg)
c.101A>G (p.Lys34Arg)
n.1142A>G
n.1064A>G
n.973A>G
c.7481A>G (p.Lys2494Arg)
c.3449A>G (p.Lys1150Arg)
c.470A>G (p.Lys157Arg)
c.569A>G (p.Lys190Arg)
c.7469A>G (p.Lys2490Arg)
c.238A>G (n.238A>G)
c.7466A>G (p.Lys2489Arg)
c.7478A>G (p.Lys2493Arg)
c.7457A>G (p.Lys2486Arg)
c.7112A>G (p.Lys2371Arg)
c.3458A>G (p.Lys1153Arg)
c.7352A>G (p.Lys2451Arg)
c.7343A>G (p.Lys2448Arg)
c.7358A>G (p.Lys2453Arg)
c.1655A>G (p.Lys552Arg)
Xg.31774021T>GCA412658841DMDc.2327A>C (p.Lys776Thr)
c.101A>C (p.Lys34Thr)
n.1142A>C
n.1064A>C
n.973A>C
c.7481A>C (p.Lys2494Thr)
c.3449A>C (p.Lys1150Thr)
c.470A>C (p.Lys157Thr)
c.569A>C (p.Lys190Thr)
c.7469A>C (p.Lys2490Thr)
c.238A>C (n.238A>C)
c.7466A>C (p.Lys2489Thr)
c.7478A>C (p.Lys2493Thr)
c.7457A>C (p.Lys2486Thr)
c.7112A>C (p.Lys2371Thr)
c.3458A>C (p.Lys1153Thr)
c.7352A>C (p.Lys2451Thr)
c.7343A>C (p.Lys2448Thr)
c.7358A>C (p.Lys2453Thr)
c.1655A>C (p.Lys552Thr)
Xg.31774022T>ACA412658842DMDc.2326A>T (p.Lys776Ter)
c.100A>T (p.Lys34Ter)
n.1141A>T
n.1063A>T
n.972A>T
c.7480A>T (p.Lys2494Ter)
c.3448A>T (p.Lys1150Ter)
c.469A>T (p.Lys157Ter)
c.568A>T (p.Lys190Ter)
c.7468A>T (p.Lys2490Ter)
c.237A>T (n.237A>T)
c.7465A>T (p.Lys2489Ter)
c.7477A>T (p.Lys2493Ter)
c.7456A>T (p.Lys2486Ter)
c.7111A>T (p.Lys2371Ter)
c.3457A>T (p.Lys1153Ter)
c.7351A>T (p.Lys2451Ter)
c.7342A>T (p.Lys2448Ter)
c.7357A>T (p.Lys2453Ter)
c.1654A>T (p.Lys552Ter)
Xg.31774022T>CCA412658843DMDc.2326A>G (p.Lys776Glu)
c.100A>G (p.Lys34Glu)
n.1141A>G
n.1063A>G
n.972A>G
c.7480A>G (p.Lys2494Glu)
c.3448A>G (p.Lys1150Glu)
c.469A>G (p.Lys157Glu)
c.568A>G (p.Lys190Glu)
c.7468A>G (p.Lys2490Glu)
c.237A>G (n.237A>G)
c.7465A>G (p.Lys2489Glu)
c.7477A>G (p.Lys2493Glu)
c.7456A>G (p.Lys2486Glu)
c.7111A>G (p.Lys2371Glu)
c.3457A>G (p.Lys1153Glu)
c.7351A>G (p.Lys2451Glu)
c.7342A>G (p.Lys2448Glu)
c.7357A>G (p.Lys2453Glu)
c.1654A>G (p.Lys552Glu)
Xg.31774022T>GCA412658844DMDc.2326A>C (p.Lys776Gln)
c.100A>C (p.Lys34Gln)
n.1141A>C
n.1063A>C
n.972A>C
c.7480A>C (p.Lys2494Gln)
c.3448A>C (p.Lys1150Gln)
c.469A>C (p.Lys157Gln)
c.568A>C (p.Lys190Gln)
c.7468A>C (p.Lys2490Gln)
c.237A>C (n.237A>C)
c.7465A>C (p.Lys2489Gln)
c.7477A>C (p.Lys2493Gln)
c.7456A>C (p.Lys2486Gln)
c.7111A>C (p.Lys2371Gln)
c.3457A>C (p.Lys1153Gln)
c.7351A>C (p.Lys2451Gln)
c.7342A>C (p.Lys2448Gln)
c.7357A>C (p.Lys2453Gln)
c.1654A>C (p.Lys552Gln)
Xg.31774023T>ACA515859320DMDc.2325A>T (p.Ile775=)
c.99A>T (p.Ile33=)
n.1140A>T
n.1062A>T
n.971A>T
c.7479A>T (p.Ile2493=)
c.3447A>T (p.Ile1149=)
c.468A>T (p.Ile156=)
c.567A>T (p.Ile189=)
c.7467A>T (p.Ile2489=)
c.236A>T (n.236A>T)
c.7464A>T (p.Ile2488=)
c.7476A>T (p.Ile2492=)
c.7455A>T (p.Ile2485=)
c.7110A>T (p.Ile2370=)
c.3456A>T (p.Ile1152=)
c.7350A>T (p.Ile2450=)
c.7341A>T (p.Ile2447=)
c.7356A>T (p.Ile2452=)
c.1653A>T (p.Ile551=)
Xg.31774023T>CCA412658845DMDc.2325A>G (p.Ile775Met)
c.99A>G (p.Ile33Met)
n.1140A>G
n.1062A>G
n.971A>G
c.7479A>G (p.Ile2493Met)
c.3447A>G (p.Ile1149Met)
c.468A>G (p.Ile156Met)
c.567A>G (p.Ile189Met)
c.7467A>G (p.Ile2489Met)
c.236A>G (n.236A>G)
c.7464A>G (p.Ile2488Met)
c.7476A>G (p.Ile2492Met)
c.7455A>G (p.Ile2485Met)
c.7110A>G (p.Ile2370Met)
c.3456A>G (p.Ile1152Met)
c.7350A>G (p.Ile2450Met)
c.7341A>G (p.Ile2447Met)
c.7356A>G (p.Ile2452Met)
c.1653A>G (p.Ile551Met)
Xg.31774023T>GCA515859319DMDc.2325A>C (p.Ile775=)
c.99A>C (p.Ile33=)
n.1140A>C
n.1062A>C
n.971A>C
c.7479A>C (p.Ile2493=)
c.3447A>C (p.Ile1149=)
c.468A>C (p.Ile156=)
c.567A>C (p.Ile189=)
c.7467A>C (p.Ile2489=)
c.236A>C (n.236A>C)
c.7464A>C (p.Ile2488=)
c.7476A>C (p.Ile2492=)
c.7455A>C (p.Ile2485=)
c.7110A>C (p.Ile2370=)
c.3456A>C (p.Ile1152=)
c.7350A>C (p.Ile2450=)
c.7341A>C (p.Ile2447=)
c.7356A>C (p.Ile2452=)
c.1653A>C (p.Ile551=)
Xg.31774024A=CA2422548627DMDc.2324T= (p.Ile775=)
c.98T= (p.Ile33=)
n.1139T=
n.1061T=
n.970T=
c.7478T= (p.Ile2493=)
c.3446T= (p.Ile1149=)
c.467T= (p.Ile156=)
c.566T= (p.Ile189=)
c.7466T= (p.Ile2489=)
c.235T= (n.235T=)
c.7463T= (p.Ile2488=)
c.7475T= (p.Ile2492=)
c.7454T= (p.Ile2485=)
c.7109T= (p.Ile2370=)
c.3455T= (p.Ile1152=)
c.7349T= (p.Ile2450=)
c.7340T= (p.Ile2447=)
c.7355T= (p.Ile2452=)
c.1652T= (p.Ile551=)
Xg.31774024A>CCA412658846DMDc.2324T>G (p.Ile775Arg)
c.98T>G (p.Ile33Arg)
n.1139T>G
n.1061T>G
n.970T>G
c.7478T>G (p.Ile2493Arg)
c.3446T>G (p.Ile1149Arg)
c.467T>G (p.Ile156Arg)
c.566T>G (p.Ile189Arg)
c.7466T>G (p.Ile2489Arg)
c.235T>G (n.235T>G)
c.7463T>G (p.Ile2488Arg)
c.7475T>G (p.Ile2492Arg)
c.7454T>G (p.Ile2485Arg)
c.7109T>G (p.Ile2370Arg)
c.3455T>G (p.Ile1152Arg)
c.7349T>G (p.Ile2450Arg)
c.7340T>G (p.Ile2447Arg)
c.7355T>G (p.Ile2452Arg)
c.1652T>G (p.Ile551Arg)
Xg.31774024A>GCA412658848DMDc.2324T>C (p.Ile775Thr)
c.98T>C (p.Ile33Thr)
n.1139T>C
n.1061T>C
n.970T>C
c.7478T>C (p.Ile2493Thr)
c.3446T>C (p.Ile1149Thr)
c.467T>C (p.Ile156Thr)
c.566T>C (p.Ile189Thr)
c.7466T>C (p.Ile2489Thr)
c.235T>C (n.235T>C)
c.7463T>C (p.Ile2488Thr)
c.7475T>C (p.Ile2492Thr)
c.7454T>C (p.Ile2485Thr)
c.7109T>C (p.Ile2370Thr)
c.3455T>C (p.Ile1152Thr)
c.7349T>C (p.Ile2450Thr)
c.7340T>C (p.Ile2447Thr)
c.7355T>C (p.Ile2452Thr)
c.1652T>C (p.Ile551Thr)
 dbSNP
Xg.31774024A>TCA412658847DMDc.2324T>A (p.Ile775Lys)
c.98T>A (p.Ile33Lys)
n.1139T>A
n.1061T>A
n.970T>A
c.7478T>A (p.Ile2493Lys)
c.3446T>A (p.Ile1149Lys)
c.467T>A (p.Ile156Lys)
c.566T>A (p.Ile189Lys)
c.7466T>A (p.Ile2489Lys)
c.235T>A (n.235T>A)
c.7463T>A (p.Ile2488Lys)
c.7475T>A (p.Ile2492Lys)
c.7454T>A (p.Ile2485Lys)
c.7109T>A (p.Ile2370Lys)
c.3455T>A (p.Ile1152Lys)
c.7349T>A (p.Ile2450Lys)
c.7340T>A (p.Ile2447Lys)
c.7355T>A (p.Ile2452Lys)
c.1652T>A (p.Ile551Lys)
Xg.31774025T>ACA412658849DMDc.2323A>T (p.Ile775Leu)
c.97A>T (p.Ile33Leu)
n.1138A>T
n.1060A>T
n.969A>T
c.7477A>T (p.Ile2493Leu)
c.3445A>T (p.Ile1149Leu)
c.466A>T (p.Ile156Leu)
c.565A>T (p.Ile189Leu)
c.7465A>T (p.Ile2489Leu)
c.234A>T (n.234A>T)
c.7462A>T (p.Ile2488Leu)
c.7474A>T (p.Ile2492Leu)
c.7453A>T (p.Ile2485Leu)
c.7108A>T (p.Ile2370Leu)
c.3454A>T (p.Ile1152Leu)
c.7348A>T (p.Ile2450Leu)
c.7339A>T (p.Ile2447Leu)
c.7354A>T (p.Ile2452Leu)
c.1651A>T (p.Ile551Leu)
Xg.31774025T>CCA412658850DMDc.2323A>G (p.Ile775Val)
c.97A>G (p.Ile33Val)
n.1138A>G
n.1060A>G
n.969A>G
c.7477A>G (p.Ile2493Val)
c.3445A>G (p.Ile1149Val)
c.466A>G (p.Ile156Val)
c.565A>G (p.Ile189Val)
c.7465A>G (p.Ile2489Val)
c.234A>G (n.234A>G)
c.7462A>G (p.Ile2488Val)
c.7474A>G (p.Ile2492Val)
c.7453A>G (p.Ile2485Val)
c.7108A>G (p.Ile2370Val)
c.3454A>G (p.Ile1152Val)
c.7348A>G (p.Ile2450Val)
c.7339A>G (p.Ile2447Val)
c.7354A>G (p.Ile2452Val)
c.1651A>G (p.Ile551Val)
Xg.31774025T>GCA412658851DMDc.2323A>C (p.Ile775Leu)
c.97A>C (p.Ile33Leu)
n.1138A>C
n.1060A>C
n.969A>C
c.7477A>C (p.Ile2493Leu)
c.3445A>C (p.Ile1149Leu)
c.466A>C (p.Ile156Leu)
c.565A>C (p.Ile189Leu)
c.7465A>C (p.Ile2489Leu)
c.234A>C (n.234A>C)
c.7462A>C (p.Ile2488Leu)
c.7474A>C (p.Ile2492Leu)
c.7453A>C (p.Ile2485Leu)
c.7108A>C (p.Ile2370Leu)
c.3454A>C (p.Ile1152Leu)
c.7348A>C (p.Ile2450Leu)
c.7339A>C (p.Ile2447Leu)
c.7354A>C (p.Ile2452Leu)
c.1651A>C (p.Ile551Leu)
Xg.31774026_31774029dupCA2580616928DMDc.2320_2323dup (p.Ile775SerfsTer11)
c.94_97dup (p.Ile33SerfsTer11)
n.1135_1138dup
n.1057_1060dup
n.966_969dup
c.7474_7477dup (p.Ile2493SerfsTer11)
c.3442_3445dup (p.Ile1149SerfsTer11)
c.463_466dup (p.Ile156SerfsTer11)
c.562_565dup (p.Ile189SerfsTer11)
c.7462_7465dup (p.Ile2489SerfsTer11)
c.231_234dup (n.231_234dup)
c.7459_7462dup (p.Ile2488SerfsTer11)
c.7471_7474dup (p.Ile2492SerfsTer11)
c.7450_7453dup (p.Ile2485SerfsTer11)
c.7105_7108dup (p.Ile2370SerfsTer11)
c.3451_3454dup (p.Ile1152SerfsTer11)
c.7345_7348dup (p.Ile2450SerfsTer11)
c.7336_7339dup (p.Ile2447SerfsTer11)
c.7351_7354dup (p.Ile2452SerfsTer11)
c.1648_1651dup (p.Ile551SerfsTer11)
 ClinVar
Xg.31774026A=CA2422548628DMDc.2322T= (p.Val774=)
c.96T= (p.Val32=)
n.1137T=
n.1059T=
n.968T=
c.7476T= (p.Val2492=)
c.3444T= (p.Val1148=)
c.465T= (p.Val155=)
c.564T= (p.Val188=)
c.7464T= (p.Val2488=)
c.233T= (n.233T=)
c.7461T= (p.Val2487=)
c.7473T= (p.Val2491=)
c.7452T= (p.Val2484=)
c.7107T= (p.Val2369=)
c.3453T= (p.Val1151=)
c.7347T= (p.Val2449=)
c.7338T= (p.Val2446=)
c.7353T= (p.Val2451=)
c.1650T= (p.Val550=)
Xg.31774026A>CCA515859322DMDc.2322T>G (p.Val774=)
c.96T>G (p.Val32=)
n.1137T>G
n.1059T>G
n.968T>G
c.7476T>G (p.Val2492=)
c.3444T>G (p.Val1148=)
c.465T>G (p.Val155=)
c.564T>G (p.Val188=)
c.7464T>G (p.Val2488=)
c.233T>G (n.233T>G)
c.7461T>G (p.Val2487=)
c.7473T>G (p.Val2491=)
c.7452T>G (p.Val2484=)
c.7107T>G (p.Val2369=)
c.3453T>G (p.Val1151=)
c.7347T>G (p.Val2449=)
c.7338T>G (p.Val2446=)
c.7353T>G (p.Val2451=)
c.1650T>G (p.Val550=)
Xg.31774026A>GCA285601DMDc.2322T>C (p.Val774=)
c.96T>C (p.Val32=)
n.1137T>C
n.1059T>C
n.968T>C
c.7476T>C (p.Val2492=)
c.3444T>C (p.Val1148=)
c.465T>C (p.Val155=)
c.564T>C (p.Val188=)
c.7464T>C (p.Val2488=)
c.233T>C (n.233T>C)
c.7461T>C (p.Val2487=)
c.7473T>C (p.Val2491=)
c.7452T>C (p.Val2484=)
c.7107T>C (p.Val2369=)
c.3453T>C (p.Val1151=)
c.7347T>C (p.Val2449=)
c.7338T>C (p.Val2446=)
c.7353T>C (p.Val2451=)
c.1650T>C (p.Val550=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774026A>TCA515859321DMDc.2322T>A (p.Val774=)
c.96T>A (p.Val32=)
n.1137T>A
n.1059T>A
n.968T>A
c.7476T>A (p.Val2492=)
c.3444T>A (p.Val1148=)
c.465T>A (p.Val155=)
c.564T>A (p.Val188=)
c.7464T>A (p.Val2488=)
c.233T>A (n.233T>A)
c.7461T>A (p.Val2487=)
c.7473T>A (p.Val2491=)
c.7452T>A (p.Val2484=)
c.7107T>A (p.Val2369=)
c.3453T>A (p.Val1151=)
c.7347T>A (p.Val2449=)
c.7338T>A (p.Val2446=)
c.7353T>A (p.Val2451=)
c.1650T>A (p.Val550=)
Xg.31774027delCA2695232437DMDc.2322del (p.Ile775Ter)
c.96del (p.Ile33Ter)
n.1137del
n.1059del
n.968del
c.7476del (p.Ile2493Ter)
c.3444del (p.Ile1149Ter)
c.465del (p.Ile156Ter)
c.564del (p.Ile189Ter)
c.7464del (p.Ile2489Ter)
c.233del (n.233del)
c.7461del (p.Ile2488Ter)
c.7473del (p.Ile2492Ter)
c.7452del (p.Ile2485Ter)
c.7107del (p.Ile2370Ter)
c.3453del (p.Ile1152Ter)
c.7347del (p.Ile2450Ter)
c.7338del (p.Ile2447Ter)
c.7353del (p.Ile2452Ter)
c.1650del (p.Ile551Ter)
Xg.31774027A>CCA412658852DMDc.2321T>G (p.Val774Gly)
c.95T>G (p.Val32Gly)
n.1136T>G
n.1058T>G
n.967T>G
c.7475T>G (p.Val2492Gly)
c.3443T>G (p.Val1148Gly)
c.464T>G (p.Val155Gly)
c.563T>G (p.Val188Gly)
c.7463T>G (p.Val2488Gly)
c.232T>G (n.232T>G)
c.7460T>G (p.Val2487Gly)
c.7472T>G (p.Val2491Gly)
c.7451T>G (p.Val2484Gly)
c.7106T>G (p.Val2369Gly)
c.3452T>G (p.Val1151Gly)
c.7346T>G (p.Val2449Gly)
c.7337T>G (p.Val2446Gly)
c.7352T>G (p.Val2451Gly)
c.1649T>G (p.Val550Gly)
Xg.31774027A>GCA412658854DMDc.2321T>C (p.Val774Ala)
c.95T>C (p.Val32Ala)
n.1136T>C
n.1058T>C
n.967T>C
c.7475T>C (p.Val2492Ala)
c.3443T>C (p.Val1148Ala)
c.464T>C (p.Val155Ala)
c.563T>C (p.Val188Ala)
c.7463T>C (p.Val2488Ala)
c.232T>C (n.232T>C)
c.7460T>C (p.Val2487Ala)
c.7472T>C (p.Val2491Ala)
c.7451T>C (p.Val2484Ala)
c.7106T>C (p.Val2369Ala)
c.3452T>C (p.Val1151Ala)
c.7346T>C (p.Val2449Ala)
c.7337T>C (p.Val2446Ala)
c.7352T>C (p.Val2451Ala)
c.1649T>C (p.Val550Ala)
Xg.31774027A>TCA412658853DMDc.2321T>A (p.Val774Asp)
c.95T>A (p.Val32Asp)
n.1136T>A
n.1058T>A
n.967T>A
c.7475T>A (p.Val2492Asp)
c.3443T>A (p.Val1148Asp)
c.464T>A (p.Val155Asp)
c.563T>A (p.Val188Asp)
c.7463T>A (p.Val2488Asp)
c.232T>A (n.232T>A)
c.7460T>A (p.Val2487Asp)
c.7472T>A (p.Val2491Asp)
c.7451T>A (p.Val2484Asp)
c.7106T>A (p.Val2369Asp)
c.3452T>A (p.Val1151Asp)
c.7346T>A (p.Val2449Asp)
c.7337T>A (p.Val2446Asp)
c.7352T>A (p.Val2451Asp)
c.1649T>A (p.Val550Asp)
Xg.31774028C>ACA412658855DMDc.2320G>T (p.Val774Phe)
c.94G>T (p.Val32Phe)
n.1135G>T
n.1057G>T
n.966G>T
c.7474G>T (p.Val2492Phe)
c.3442G>T (p.Val1148Phe)
c.463G>T (p.Val155Phe)
c.562G>T (p.Val188Phe)
c.7462G>T (p.Val2488Phe)
c.231G>T (n.231G>T)
c.7459G>T (p.Val2487Phe)
c.7471G>T (p.Val2491Phe)
c.7450G>T (p.Val2484Phe)
c.7105G>T (p.Val2369Phe)
c.3451G>T (p.Val1151Phe)
c.7345G>T (p.Val2449Phe)
c.7336G>T (p.Val2446Phe)
c.7351G>T (p.Val2451Phe)
c.1648G>T (p.Val550Phe)
Xg.31774028C>GCA412658856DMDc.2320G>C (p.Val774Leu)
c.94G>C (p.Val32Leu)
n.1135G>C
n.1057G>C
n.966G>C
c.7474G>C (p.Val2492Leu)
c.3442G>C (p.Val1148Leu)
c.463G>C (p.Val155Leu)
c.562G>C (p.Val188Leu)
c.7462G>C (p.Val2488Leu)
c.231G>C (n.231G>C)
c.7459G>C (p.Val2487Leu)
c.7471G>C (p.Val2491Leu)
c.7450G>C (p.Val2484Leu)
c.7105G>C (p.Val2369Leu)
c.3451G>C (p.Val1151Leu)
c.7345G>C (p.Val2449Leu)
c.7336G>C (p.Val2446Leu)
c.7351G>C (p.Val2451Leu)
c.1648G>C (p.Val550Leu)
Xg.31774028C>TCA412658857DMDc.2320G>A (p.Val774Ile)
c.94G>A (p.Val32Ile)
n.1135G>A
n.1057G>A
n.966G>A
c.7474G>A (p.Val2492Ile)
c.3442G>A (p.Val1148Ile)
c.463G>A (p.Val155Ile)
c.562G>A (p.Val188Ile)
c.7462G>A (p.Val2488Ile)
c.231G>A (n.231G>A)
c.7459G>A (p.Val2487Ile)
c.7471G>A (p.Val2491Ile)
c.7450G>A (p.Val2484Ile)
c.7105G>A (p.Val2369Ile)
c.3451G>A (p.Val1151Ile)
c.7345G>A (p.Val2449Ile)
c.7336G>A (p.Val2446Ile)
c.7351G>A (p.Val2451Ile)
c.1648G>A (p.Val550Ile)
Xg.31774029T>ACA412658858DMDc.2319A>T (p.Gln773His)
c.93A>T (p.Gln31His)
n.1134A>T
n.1056A>T
n.965A>T
c.7473A>T (p.Gln2491His)
c.3441A>T (p.Gln1147His)
c.462A>T (p.Gln154His)
c.561A>T (p.Gln187His)
c.7461A>T (p.Gln2487His)
c.230A>T (n.230A>T)
c.7458A>T (p.Gln2486His)
c.7470A>T (p.Gln2490His)
c.7449A>T (p.Gln2483His)
c.7104A>T (p.Gln2368His)
c.3450A>T (p.Gln1150His)
c.7344A>T (p.Gln2448His)
c.7335A>T (p.Gln2445His)
c.7350A>T (p.Gln2450His)
c.1647A>T (p.Gln549His)
Xg.31774029T>CCA515859323DMDc.2319A>G (p.Gln773=)
c.93A>G (p.Gln31=)
n.1134A>G
n.1056A>G
n.965A>G
c.7473A>G (p.Gln2491=)
c.3441A>G (p.Gln1147=)
c.462A>G (p.Gln154=)
c.561A>G (p.Gln187=)
c.7461A>G (p.Gln2487=)
c.230A>G (n.230A>G)
c.7458A>G (p.Gln2486=)
c.7470A>G (p.Gln2490=)
c.7449A>G (p.Gln2483=)
c.7104A>G (p.Gln2368=)
c.3450A>G (p.Gln1150=)
c.7344A>G (p.Gln2448=)
c.7335A>G (p.Gln2445=)
c.7350A>G (p.Gln2450=)
c.1647A>G (p.Gln549=)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774029T>GCA412658859DMDc.2319A>C (p.Gln773His)
c.93A>C (p.Gln31His)
n.1134A>C
n.1056A>C
n.965A>C
c.7473A>C (p.Gln2491His)
c.3441A>C (p.Gln1147His)
c.462A>C (p.Gln154His)
c.561A>C (p.Gln187His)
c.7461A>C (p.Gln2487His)
c.230A>C (n.230A>C)
c.7458A>C (p.Gln2486His)
c.7470A>C (p.Gln2490His)
c.7449A>C (p.Gln2483His)
c.7104A>C (p.Gln2368His)
c.3450A>C (p.Gln1150His)
c.7344A>C (p.Gln2448His)
c.7335A>C (p.Gln2445His)
c.7350A>C (p.Gln2450His)
c.1647A>C (p.Gln549His)
Xg.31774029T=CA2422548629DMDc.2319A= (p.Gln773=)
c.93A= (p.Gln31=)
n.1134A=
n.1056A=
n.965A=
c.7473A= (p.Gln2491=)
c.3441A= (p.Gln1147=)
c.462A= (p.Gln154=)
c.561A= (p.Gln187=)
c.7461A= (p.Gln2487=)
c.230A= (n.230A=)
c.7458A= (p.Gln2486=)
c.7470A= (p.Gln2490=)
c.7449A= (p.Gln2483=)
c.7104A= (p.Gln2368=)
c.3450A= (p.Gln1150=)
c.7344A= (p.Gln2448=)
c.7335A= (p.Gln2445=)
c.7350A= (p.Gln2450=)
c.1647A= (p.Gln549=)
Xg.31774030T>ACA412658860DMDc.2318A>T (p.Gln773Leu)
c.92A>T (p.Gln31Leu)
n.1133A>T
n.1055A>T
n.964A>T
c.7472A>T (p.Gln2491Leu)
c.3440A>T (p.Gln1147Leu)
c.461A>T (p.Gln154Leu)
c.560A>T (p.Gln187Leu)
c.7460A>T (p.Gln2487Leu)
c.229A>T (n.229A>T)
c.7457A>T (p.Gln2486Leu)
c.7469A>T (p.Gln2490Leu)
c.7448A>T (p.Gln2483Leu)
c.7103A>T (p.Gln2368Leu)
c.3449A>T (p.Gln1150Leu)
c.7343A>T (p.Gln2448Leu)
c.7334A>T (p.Gln2445Leu)
c.7349A>T (p.Gln2450Leu)
c.1646A>T (p.Gln549Leu)
Xg.31774030T>CCA308331DMDc.2318A>G (p.Gln773Arg)
c.92A>G (p.Gln31Arg)
n.1133A>G
n.1055A>G
n.964A>G
c.7472A>G (p.Gln2491Arg)
c.3440A>G (p.Gln1147Arg)
c.461A>G (p.Gln154Arg)
c.560A>G (p.Gln187Arg)
c.7460A>G (p.Gln2487Arg)
c.229A>G (n.229A>G)
c.7457A>G (p.Gln2486Arg)
c.7469A>G (p.Gln2490Arg)
c.7448A>G (p.Gln2483Arg)
c.7103A>G (p.Gln2368Arg)
c.3449A>G (p.Gln1150Arg)
c.7343A>G (p.Gln2448Arg)
c.7334A>G (p.Gln2445Arg)
c.7349A>G (p.Gln2450Arg)
c.1646A>G (p.Gln549Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774030T>GCA412658861DMDc.2318A>C (p.Gln773Pro)
c.92A>C (p.Gln31Pro)
n.1133A>C
n.1055A>C
n.964A>C
c.7472A>C (p.Gln2491Pro)
c.3440A>C (p.Gln1147Pro)
c.461A>C (p.Gln154Pro)
c.560A>C (p.Gln187Pro)
c.7460A>C (p.Gln2487Pro)
c.229A>C (n.229A>C)
c.7457A>C (p.Gln2486Pro)
c.7469A>C (p.Gln2490Pro)
c.7448A>C (p.Gln2483Pro)
c.7103A>C (p.Gln2368Pro)
c.3449A>C (p.Gln1150Pro)
c.7343A>C (p.Gln2448Pro)
c.7334A>C (p.Gln2445Pro)
c.7349A>C (p.Gln2450Pro)
c.1646A>C (p.Gln549Pro)
Xg.31774030T=CA2422548630DMDc.2318A= (p.Gln773=)
c.92A= (p.Gln31=)
n.1133A=
n.1055A=
n.964A=
c.7472A= (p.Gln2491=)
c.3440A= (p.Gln1147=)
c.461A= (p.Gln154=)
c.560A= (p.Gln187=)
c.7460A= (p.Gln2487=)
c.229A= (n.229A=)
c.7457A= (p.Gln2486=)
c.7469A= (p.Gln2490=)
c.7448A= (p.Gln2483=)
c.7103A= (p.Gln2368=)
c.3449A= (p.Gln1150=)
c.7343A= (p.Gln2448=)
c.7334A= (p.Gln2445=)
c.7349A= (p.Gln2450=)
c.1646A= (p.Gln549=)
Xg.31774031delCA2697552931DMDc.2317del (p.Gln773LysfsTer3)
c.91del (p.Gln31LysfsTer3)
n.1132del
n.1054del
n.963del
c.7471del (p.Gln2491LysfsTer3)
c.3439del (p.Gln1147LysfsTer3)
c.460del (p.Gln154LysfsTer3)
c.559del (p.Gln187LysfsTer3)
c.7459del (p.Gln2487LysfsTer3)
c.228del (n.228del)
c.7456del (p.Gln2486LysfsTer3)
c.7468del (p.Gln2490LysfsTer3)
c.7447del (p.Gln2483LysfsTer3)
c.7102del (p.Gln2368LysfsTer3)
c.3448del (p.Gln1150LysfsTer3)
c.7342del (p.Gln2448LysfsTer3)
c.7333del (p.Gln2445LysfsTer3)
c.7348del (p.Gln2450LysfsTer3)
c.1645del (p.Gln549LysfsTer3)
 ClinVar
Xg.31774031G>ACA412658862DMDc.2317C>T (p.Gln773Ter)
c.91C>T (p.Gln31Ter)
n.1132C>T
n.1054C>T
n.963C>T
c.7471C>T (p.Gln2491Ter)
c.3439C>T (p.Gln1147Ter)
c.460C>T (p.Gln154Ter)
c.559C>T (p.Gln187Ter)
c.7459C>T (p.Gln2487Ter)
c.228C>T (n.228C>T)
c.7456C>T (p.Gln2486Ter)
c.7468C>T (p.Gln2490Ter)
c.7447C>T (p.Gln2483Ter)
c.7102C>T (p.Gln2368Ter)
c.3448C>T (p.Gln1150Ter)
c.7342C>T (p.Gln2448Ter)
c.7333C>T (p.Gln2445Ter)
c.7348C>T (p.Gln2450Ter)
c.1645C>T (p.Gln549Ter)
 ClinVar dbSNP
Xg.31774031G>CCA412658863DMDc.2317C>G (p.Gln773Glu)
c.91C>G (p.Gln31Glu)
n.1132C>G
n.1054C>G
n.963C>G
c.7471C>G (p.Gln2491Glu)
c.3439C>G (p.Gln1147Glu)
c.460C>G (p.Gln154Glu)
c.559C>G (p.Gln187Glu)
c.7459C>G (p.Gln2487Glu)
c.228C>G (n.228C>G)
c.7456C>G (p.Gln2486Glu)
c.7468C>G (p.Gln2490Glu)
c.7447C>G (p.Gln2483Glu)
c.7102C>G (p.Gln2368Glu)
c.3448C>G (p.Gln1150Glu)
c.7342C>G (p.Gln2448Glu)
c.7333C>G (p.Gln2445Glu)
c.7348C>G (p.Gln2450Glu)
c.1645C>G (p.Gln549Glu)
Xg.31774031G>TCA412658864DMDc.2317C>A (p.Gln773Lys)
c.91C>A (p.Gln31Lys)
n.1132C>A
n.1054C>A
n.963C>A
c.7471C>A (p.Gln2491Lys)
c.3439C>A (p.Gln1147Lys)
c.460C>A (p.Gln154Lys)
c.559C>A (p.Gln187Lys)
c.7459C>A (p.Gln2487Lys)
c.228C>A (n.228C>A)
c.7456C>A (p.Gln2486Lys)
c.7468C>A (p.Gln2490Lys)
c.7447C>A (p.Gln2483Lys)
c.7102C>A (p.Gln2368Lys)
c.3448C>A (p.Gln1150Lys)
c.7342C>A (p.Gln2448Lys)
c.7333C>A (p.Gln2445Lys)
c.7348C>A (p.Gln2450Lys)
c.1645C>A (p.Gln549Lys)
Xg.31774032A>CCA412658865DMDc.2316T>G (p.Asp772Glu)
c.90T>G (p.Asp30Glu)
n.1131T>G
n.1053T>G
n.962T>G
c.7470T>G (p.Asp2490Glu)
c.3438T>G (p.Asp1146Glu)
c.459T>G (p.Asp153Glu)
c.558T>G (p.Asp186Glu)
c.7458T>G (p.Asp2486Glu)
c.227T>G (n.227T>G)
c.7455T>G (p.Asp2485Glu)
c.7467T>G (p.Asp2489Glu)
c.7446T>G (p.Asp2482Glu)
c.7101T>G (p.Asp2367Glu)
c.3447T>G (p.Asp1149Glu)
c.7341T>G (p.Asp2447Glu)
c.7332T>G (p.Asp2444Glu)
c.7347T>G (p.Asp2449Glu)
c.1644T>G (p.Asp548Glu)
Xg.31774032A>GCA515859324DMDc.2316T>C (p.Asp772=)
c.90T>C (p.Asp30=)
n.1131T>C
n.1053T>C
n.962T>C
c.7470T>C (p.Asp2490=)
c.3438T>C (p.Asp1146=)
c.459T>C (p.Asp153=)
c.558T>C (p.Asp186=)
c.7458T>C (p.Asp2486=)
c.227T>C (n.227T>C)
c.7455T>C (p.Asp2485=)
c.7467T>C (p.Asp2489=)
c.7446T>C (p.Asp2482=)
c.7101T>C (p.Asp2367=)
c.3447T>C (p.Asp1149=)
c.7341T>C (p.Asp2447=)
c.7332T>C (p.Asp2444=)
c.7347T>C (p.Asp2449=)
c.1644T>C (p.Asp548=)
Xg.31774032A>TCA412658866DMDc.2316T>A (p.Asp772Glu)
c.90T>A (p.Asp30Glu)
n.1131T>A
n.1053T>A
n.962T>A
c.7470T>A (p.Asp2490Glu)
c.3438T>A (p.Asp1146Glu)
c.459T>A (p.Asp153Glu)
c.558T>A (p.Asp186Glu)
c.7458T>A (p.Asp2486Glu)
c.227T>A (n.227T>A)
c.7455T>A (p.Asp2485Glu)
c.7467T>A (p.Asp2489Glu)
c.7446T>A (p.Asp2482Glu)
c.7101T>A (p.Asp2367Glu)
c.3447T>A (p.Asp1149Glu)
c.7341T>A (p.Asp2447Glu)
c.7332T>A (p.Asp2444Glu)
c.7347T>A (p.Asp2449Glu)
c.1644T>A (p.Asp548Glu)
Xg.31774032delinsTTCA2695232439DMDc.2316delinsAA (p.Asp772GlufsTer13)
c.90delinsAA (p.Asp30GlufsTer13)
n.1131delinsAA
n.1053delinsAA
n.962delinsAA
c.7470delinsAA (p.Asp2490GlufsTer13)
c.3438delinsAA (p.Asp1146GlufsTer13)
c.459delinsAA (p.Asp153GlufsTer13)
c.558delinsAA (p.Asp186GlufsTer13)
c.7458delinsAA (p.Asp2486GlufsTer13)
c.227delinsAA (n.227delinsAA)
c.7455delinsAA (p.Asp2485GlufsTer13)
c.7467delinsAA (p.Asp2489GlufsTer13)
c.7446delinsAA (p.Asp2482GlufsTer13)
c.7101delinsAA (p.Asp2367GlufsTer13)
c.3447delinsAA (p.Asp1149GlufsTer13)
c.7341delinsAA (p.Asp2447GlufsTer13)
c.7332delinsAA (p.Asp2444GlufsTer13)
c.7347delinsAA (p.Asp2449GlufsTer13)
c.1644delinsAA (p.Asp548GlufsTer13)
Xg.31774033T>ACA328470491DMDc.2315A>T (p.Asp772Val)
c.89A>T (p.Asp30Val)
n.1130A>T
n.1052A>T
n.961A>T
c.7469A>T (p.Asp2490Val)
c.3437A>T (p.Asp1146Val)
c.458A>T (p.Asp153Val)
c.557A>T (p.Asp186Val)
c.7457A>T (p.Asp2486Val)
c.226A>T (n.226A>T)
c.7454A>T (p.Asp2485Val)
c.7466A>T (p.Asp2489Val)
c.7445A>T (p.Asp2482Val)
c.7100A>T (p.Asp2367Val)
c.3446A>T (p.Asp1149Val)
c.7340A>T (p.Asp2447Val)
c.7331A>T (p.Asp2444Val)
c.7346A>T (p.Asp2449Val)
c.1643A>T (p.Asp548Val)
 dbSNP
Xg.31774033T>CCA412658867DMDc.2315A>G (p.Asp772Gly)
c.89A>G (p.Asp30Gly)
n.1130A>G
n.1052A>G
n.961A>G
c.7469A>G (p.Asp2490Gly)
c.3437A>G (p.Asp1146Gly)
c.458A>G (p.Asp153Gly)
c.557A>G (p.Asp186Gly)
c.7457A>G (p.Asp2486Gly)
c.226A>G (n.226A>G)
c.7454A>G (p.Asp2485Gly)
c.7466A>G (p.Asp2489Gly)
c.7445A>G (p.Asp2482Gly)
c.7100A>G (p.Asp2367Gly)
c.3446A>G (p.Asp1149Gly)
c.7340A>G (p.Asp2447Gly)
c.7331A>G (p.Asp2444Gly)
c.7346A>G (p.Asp2449Gly)
c.1643A>G (p.Asp548Gly)
 dbSNP
Xg.31774033T>GCA412658868DMDc.2315A>C (p.Asp772Ala)
c.89A>C (p.Asp30Ala)
n.1130A>C
n.1052A>C
n.961A>C
c.7469A>C (p.Asp2490Ala)
c.3437A>C (p.Asp1146Ala)
c.458A>C (p.Asp153Ala)
c.557A>C (p.Asp186Ala)
c.7457A>C (p.Asp2486Ala)
c.226A>C (n.226A>C)
c.7454A>C (p.Asp2485Ala)
c.7466A>C (p.Asp2489Ala)
c.7445A>C (p.Asp2482Ala)
c.7100A>C (p.Asp2367Ala)
c.3446A>C (p.Asp1149Ala)
c.7340A>C (p.Asp2447Ala)
c.7331A>C (p.Asp2444Ala)
c.7346A>C (p.Asp2449Ala)
c.1643A>C (p.Asp548Ala)
Xg.31774033T=CA2422548631DMDc.2315A= (p.Asp772=)
c.89A= (p.Asp30=)
n.1130A=
n.1052A=
n.961A=
c.7469A= (p.Asp2490=)
c.3437A= (p.Asp1146=)
c.458A= (p.Asp153=)
c.557A= (p.Asp186=)
c.7457A= (p.Asp2486=)
c.226A= (n.226A=)
c.7454A= (p.Asp2485=)
c.7466A= (p.Asp2489=)
c.7445A= (p.Asp2482=)
c.7100A= (p.Asp2367=)
c.3446A= (p.Asp1149=)
c.7340A= (p.Asp2447=)
c.7331A= (p.Asp2444=)
c.7346A= (p.Asp2449=)
c.1643A= (p.Asp548=)
Xg.31774034C>ACA10378271DMDc.2314G>T (p.Asp772Tyr)
c.88G>T (p.Asp30Tyr)
n.1129G>T
n.1051G>T
n.960G>T
c.7468G>T (p.Asp2490Tyr)
c.3436G>T (p.Asp1146Tyr)
c.457G>T (p.Asp153Tyr)
c.556G>T (p.Asp186Tyr)
c.7456G>T (p.Asp2486Tyr)
c.225G>T (n.225G>T)
c.7453G>T (p.Asp2485Tyr)
c.7465G>T (p.Asp2489Tyr)
c.7444G>T (p.Asp2482Tyr)
c.7099G>T (p.Asp2367Tyr)
c.3445G>T (p.Asp1149Tyr)
c.7339G>T (p.Asp2447Tyr)
c.7330G>T (p.Asp2444Tyr)
c.7345G>T (p.Asp2449Tyr)
c.1642G>T (p.Asp548Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774034C=CA2422548632DMDc.2314G= (p.Asp772=)
c.88G= (p.Asp30=)
n.1129G=
n.1051G=
n.960G=
c.7468G= (p.Asp2490=)
c.3436G= (p.Asp1146=)
c.457G= (p.Asp153=)
c.556G= (p.Asp186=)
c.7456G= (p.Asp2486=)
c.225G= (n.225G=)
c.7453G= (p.Asp2485=)
c.7465G= (p.Asp2489=)
c.7444G= (p.Asp2482=)
c.7099G= (p.Asp2367=)
c.3445G= (p.Asp1149=)
c.7339G= (p.Asp2447=)
c.7330G= (p.Asp2444=)
c.7345G= (p.Asp2449=)
c.1642G= (p.Asp548=)
Xg.31774034C>GCA412658869DMDc.2314G>C (p.Asp772His)
c.88G>C (p.Asp30His)
n.1129G>C
n.1051G>C
n.960G>C
c.7468G>C (p.Asp2490His)
c.3436G>C (p.Asp1146His)
c.457G>C (p.Asp153His)
c.556G>C (p.Asp186His)
c.7456G>C (p.Asp2486His)
c.225G>C (n.225G>C)
c.7453G>C (p.Asp2485His)
c.7465G>C (p.Asp2489His)
c.7444G>C (p.Asp2482His)
c.7099G>C (p.Asp2367His)
c.3445G>C (p.Asp1149His)
c.7339G>C (p.Asp2447His)
c.7330G>C (p.Asp2444His)
c.7345G>C (p.Asp2449His)
c.1642G>C (p.Asp548His)
Xg.31774034C>TCA412658870DMDc.2314G>A (p.Asp772Asn)
c.88G>A (p.Asp30Asn)
n.1129G>A
n.1051G>A
n.960G>A
c.7468G>A (p.Asp2490Asn)
c.3436G>A (p.Asp1146Asn)
c.457G>A (p.Asp153Asn)
c.556G>A (p.Asp186Asn)
c.7456G>A (p.Asp2486Asn)
c.225G>A (n.225G>A)
c.7453G>A (p.Asp2485Asn)
c.7465G>A (p.Asp2489Asn)
c.7444G>A (p.Asp2482Asn)
c.7099G>A (p.Asp2367Asn)
c.3445G>A (p.Asp1149Asn)
c.7339G>A (p.Asp2447Asn)
c.7330G>A (p.Asp2444Asn)
c.7345G>A (p.Asp2449Asn)
c.1642G>A (p.Asp548Asn)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774035A>CCA515859325DMDc.2313T>G (p.Leu771=)
c.87T>G (p.Leu29=)
n.1128T>G
n.1050T>G
n.959T>G
c.7467T>G (p.Leu2489=)
c.3435T>G (p.Leu1145=)
c.456T>G (p.Leu152=)
c.555T>G (p.Leu185=)
c.7455T>G (p.Leu2485=)
c.224T>G (n.224T>G)
c.7452T>G (p.Leu2484=)
c.7464T>G (p.Leu2488=)
c.7443T>G (p.Leu2481=)
c.7098T>G (p.Leu2366=)
c.3444T>G (p.Leu1148=)
c.7338T>G (p.Leu2446=)
c.7329T>G (p.Leu2443=)
c.7344T>G (p.Leu2448=)
c.1641T>G (p.Leu547=)
 ClinVar
Xg.31774035A>GCA515859326DMDc.2313T>C (p.Leu771=)
c.87T>C (p.Leu29=)
n.1128T>C
n.1050T>C
n.959T>C
c.7467T>C (p.Leu2489=)
c.3435T>C (p.Leu1145=)
c.456T>C (p.Leu152=)
c.555T>C (p.Leu185=)
c.7455T>C (p.Leu2485=)
c.224T>C (n.224T>C)
c.7452T>C (p.Leu2484=)
c.7464T>C (p.Leu2488=)
c.7443T>C (p.Leu2481=)
c.7098T>C (p.Leu2366=)
c.3444T>C (p.Leu1148=)
c.7338T>C (p.Leu2446=)
c.7329T>C (p.Leu2443=)
c.7344T>C (p.Leu2448=)
c.1641T>C (p.Leu547=)
Xg.31774035A>TCA515859327DMDc.2313T>A (p.Leu771=)
c.87T>A (p.Leu29=)
n.1128T>A
n.1050T>A
n.959T>A
c.7467T>A (p.Leu2489=)
c.3435T>A (p.Leu1145=)
c.456T>A (p.Leu152=)
c.555T>A (p.Leu185=)
c.7455T>A (p.Leu2485=)
c.224T>A (n.224T>A)
c.7452T>A (p.Leu2484=)
c.7464T>A (p.Leu2488=)
c.7443T>A (p.Leu2481=)
c.7098T>A (p.Leu2366=)
c.3444T>A (p.Leu1148=)
c.7338T>A (p.Leu2446=)
c.7329T>A (p.Leu2443=)
c.7344T>A (p.Leu2448=)
c.1641T>A (p.Leu547=)
Xg.31774036delCA2695232441DMDc.2313del (p.Asp772IlefsTer4)
c.87del (p.Asp30IlefsTer4)
n.1128del
n.1050del
n.959del
c.7467del (p.Asp2490IlefsTer4)
c.3435del (p.Asp1146IlefsTer4)
c.456del (p.Asp153IlefsTer4)
c.555del (p.Asp186IlefsTer4)
c.7455del (p.Asp2486IlefsTer4)
c.224del (n.224del)
c.7452del (p.Asp2485IlefsTer4)
c.7464del (p.Asp2489IlefsTer4)
c.7443del (p.Asp2482IlefsTer4)
c.7098del (p.Asp2367IlefsTer4)
c.3444del (p.Asp1149IlefsTer4)
c.7338del (p.Asp2447IlefsTer4)
c.7329del (p.Asp2444IlefsTer4)
c.7344del (p.Asp2449IlefsTer4)
c.1641del (p.Asp548IlefsTer4)
Xg.31774036A>CCA412658871DMDc.2312T>G (p.Leu771Arg)
c.86T>G (p.Leu29Arg)
n.1127T>G
n.1049T>G
n.958T>G
c.7466T>G (p.Leu2489Arg)
c.3434T>G (p.Leu1145Arg)
c.455T>G (p.Leu152Arg)
c.554T>G (p.Leu185Arg)
c.7454T>G (p.Leu2485Arg)
c.223T>G (n.223T>G)
c.7451T>G (p.Leu2484Arg)
c.7463T>G (p.Leu2488Arg)
c.7442T>G (p.Leu2481Arg)
c.7097T>G (p.Leu2366Arg)
c.3443T>G (p.Leu1148Arg)
c.7337T>G (p.Leu2446Arg)
c.7328T>G (p.Leu2443Arg)
c.7343T>G (p.Leu2448Arg)
c.1640T>G (p.Leu547Arg)
Xg.31774036A>GCA412658872DMDc.2312T>C (p.Leu771Pro)
c.86T>C (p.Leu29Pro)
n.1127T>C
n.1049T>C
n.958T>C
c.7466T>C (p.Leu2489Pro)
c.3434T>C (p.Leu1145Pro)
c.455T>C (p.Leu152Pro)
c.554T>C (p.Leu185Pro)
c.7454T>C (p.Leu2485Pro)
c.223T>C (n.223T>C)
c.7451T>C (p.Leu2484Pro)
c.7463T>C (p.Leu2488Pro)
c.7442T>C (p.Leu2481Pro)
c.7097T>C (p.Leu2366Pro)
c.3443T>C (p.Leu1148Pro)
c.7337T>C (p.Leu2446Pro)
c.7328T>C (p.Leu2443Pro)
c.7343T>C (p.Leu2448Pro)
c.1640T>C (p.Leu547Pro)
Xg.31774036A>TCA412658873DMDc.2312T>A (p.Leu771His)
c.86T>A (p.Leu29His)
n.1127T>A
n.1049T>A
n.958T>A
c.7466T>A (p.Leu2489His)
c.3434T>A (p.Leu1145His)
c.455T>A (p.Leu152His)
c.554T>A (p.Leu185His)
c.7454T>A (p.Leu2485His)
c.223T>A (n.223T>A)
c.7451T>A (p.Leu2484His)
c.7463T>A (p.Leu2488His)
c.7442T>A (p.Leu2481His)
c.7097T>A (p.Leu2366His)
c.3443T>A (p.Leu1148His)
c.7337T>A (p.Leu2446His)
c.7328T>A (p.Leu2443His)
c.7343T>A (p.Leu2448His)
c.1640T>A (p.Leu547His)
Xg.31774037G>ACA412658874DMDc.2311C>T (p.Leu771Phe)
c.85C>T (p.Leu29Phe)
n.1126C>T
n.1048C>T
n.957C>T
c.7465C>T (p.Leu2489Phe)
c.3433C>T (p.Leu1145Phe)
c.454C>T (p.Leu152Phe)
c.553C>T (p.Leu185Phe)
c.7453C>T (p.Leu2485Phe)
c.222C>T (n.222C>T)
c.7450C>T (p.Leu2484Phe)
c.7462C>T (p.Leu2488Phe)
c.7441C>T (p.Leu2481Phe)
c.7096C>T (p.Leu2366Phe)
c.3442C>T (p.Leu1148Phe)
c.7336C>T (p.Leu2446Phe)
c.7327C>T (p.Leu2443Phe)
c.7342C>T (p.Leu2448Phe)
c.1639C>T (p.Leu547Phe)
Xg.31774037G>CCA412658875DMDc.2311C>G (p.Leu771Val)
c.85C>G (p.Leu29Val)
n.1126C>G
n.1048C>G
n.957C>G
c.7465C>G (p.Leu2489Val)
c.3433C>G (p.Leu1145Val)
c.454C>G (p.Leu152Val)
c.553C>G (p.Leu185Val)
c.7453C>G (p.Leu2485Val)
c.222C>G (n.222C>G)
c.7450C>G (p.Leu2484Val)
c.7462C>G (p.Leu2488Val)
c.7441C>G (p.Leu2481Val)
c.7096C>G (p.Leu2366Val)
c.3442C>G (p.Leu1148Val)
c.7336C>G (p.Leu2446Val)
c.7327C>G (p.Leu2443Val)
c.7342C>G (p.Leu2448Val)
c.1639C>G (p.Leu547Val)
Xg.31774037G>TCA412658876DMDc.2311C>A (p.Leu771Ile)
c.85C>A (p.Leu29Ile)
n.1126C>A
n.1048C>A
n.957C>A
c.7465C>A (p.Leu2489Ile)
c.3433C>A (p.Leu1145Ile)
c.454C>A (p.Leu152Ile)
c.553C>A (p.Leu185Ile)
c.7453C>A (p.Leu2485Ile)
c.222C>A (n.222C>A)
c.7450C>A (p.Leu2484Ile)
c.7462C>A (p.Leu2488Ile)
c.7441C>A (p.Leu2481Ile)
c.7096C>A (p.Leu2366Ile)
c.3442C>A (p.Leu1148Ile)
c.7336C>A (p.Leu2446Ile)
c.7327C>A (p.Leu2443Ile)
c.7342C>A (p.Leu2448Ile)
c.1639C>A (p.Leu547Ile)
Xg.31774038C>ACA515859328DMDc.2310G>T (p.Leu770=)
c.84G>T (p.Leu28=)
n.1125G>T
n.1047G>T
n.956G>T
c.7464G>T (p.Leu2488=)
c.3432G>T (p.Leu1144=)
c.453G>T (p.Leu151=)
c.552G>T (p.Leu184=)
c.7452G>T (p.Leu2484=)
c.221G>T (n.221G>T)
c.7449G>T (p.Leu2483=)
c.7461G>T (p.Leu2487=)
c.7440G>T (p.Leu2480=)
c.7095G>T (p.Leu2365=)
c.3441G>T (p.Leu1147=)
c.7335G>T (p.Leu2445=)
c.7326G>T (p.Leu2442=)
c.7341G>T (p.Leu2447=)
c.1638G>T (p.Leu546=)
Xg.31774038C=CA2422548633DMDc.2310G= (p.Leu770=)
c.84G= (p.Leu28=)
n.1125G=
n.1047G=
n.956G=
c.7464G= (p.Leu2488=)
c.3432G= (p.Leu1144=)
c.453G= (p.Leu151=)
c.552G= (p.Leu184=)
c.7452G= (p.Leu2484=)
c.221G= (n.221G=)
c.7449G= (p.Leu2483=)
c.7461G= (p.Leu2487=)
c.7440G= (p.Leu2480=)
c.7095G= (p.Leu2365=)
c.3441G= (p.Leu1147=)
c.7335G= (p.Leu2445=)
c.7326G= (p.Leu2442=)
c.7341G= (p.Leu2447=)
c.1638G= (p.Leu546=)
Xg.31774038C>GCA515859329DMDc.2310G>C (p.Leu770=)
c.84G>C (p.Leu28=)
n.1125G>C
n.1047G>C
n.956G>C
c.7464G>C (p.Leu2488=)
c.3432G>C (p.Leu1144=)
c.453G>C (p.Leu151=)
c.552G>C (p.Leu184=)
c.7452G>C (p.Leu2484=)
c.221G>C (n.221G>C)
c.7449G>C (p.Leu2483=)
c.7461G>C (p.Leu2487=)
c.7440G>C (p.Leu2480=)
c.7095G>C (p.Leu2365=)
c.3441G>C (p.Leu1147=)
c.7335G>C (p.Leu2445=)
c.7326G>C (p.Leu2442=)
c.7341G>C (p.Leu2447=)
c.1638G>C (p.Leu546=)
Xg.31774038C>TCA515859330DMDc.2310G>A (p.Leu770=)
c.84G>A (p.Leu28=)
n.1125G>A
n.1047G>A
n.956G>A
c.7464G>A (p.Leu2488=)
c.3432G>A (p.Leu1144=)
c.453G>A (p.Leu151=)
c.552G>A (p.Leu184=)
c.7452G>A (p.Leu2484=)
c.221G>A (n.221G>A)
c.7449G>A (p.Leu2483=)
c.7461G>A (p.Leu2487=)
c.7440G>A (p.Leu2480=)
c.7095G>A (p.Leu2365=)
c.3441G>A (p.Leu1147=)
c.7335G>A (p.Leu2445=)
c.7326G>A (p.Leu2442=)
c.7341G>A (p.Leu2447=)
c.1638G>A (p.Leu546=)
 ClinVar dbSNP gnomAD v4
Xg.31774039A>CCA412658877DMDc.2309T>G (p.Leu770Arg)
c.83T>G (p.Leu28Arg)
n.1124T>G
n.1046T>G
n.955T>G
c.7463T>G (p.Leu2488Arg)
c.3431T>G (p.Leu1144Arg)
c.452T>G (p.Leu151Arg)
c.551T>G (p.Leu184Arg)
c.7451T>G (p.Leu2484Arg)
c.220T>G (n.220T>G)
c.7448T>G (p.Leu2483Arg)
c.7460T>G (p.Leu2487Arg)
c.7439T>G (p.Leu2480Arg)
c.7094T>G (p.Leu2365Arg)
c.3440T>G (p.Leu1147Arg)
c.7334T>G (p.Leu2445Arg)
c.7325T>G (p.Leu2442Arg)
c.7340T>G (p.Leu2447Arg)
c.1637T>G (p.Leu546Arg)
Xg.31774039A>GCA412658878DMDc.2309T>C (p.Leu770Pro)
c.83T>C (p.Leu28Pro)
n.1124T>C
n.1046T>C
n.955T>C
c.7463T>C (p.Leu2488Pro)
c.3431T>C (p.Leu1144Pro)
c.452T>C (p.Leu151Pro)
c.551T>C (p.Leu184Pro)
c.7451T>C (p.Leu2484Pro)
c.220T>C (n.220T>C)
c.7448T>C (p.Leu2483Pro)
c.7460T>C (p.Leu2487Pro)
c.7439T>C (p.Leu2480Pro)
c.7094T>C (p.Leu2365Pro)
c.3440T>C (p.Leu1147Pro)
c.7334T>C (p.Leu2445Pro)
c.7325T>C (p.Leu2442Pro)
c.7340T>C (p.Leu2447Pro)
c.1637T>C (p.Leu546Pro)
Xg.31774039A>TCA412658879DMDc.2309T>A (p.Leu770Gln)
c.83T>A (p.Leu28Gln)
n.1124T>A
n.1046T>A
n.955T>A
c.7463T>A (p.Leu2488Gln)
c.3431T>A (p.Leu1144Gln)
c.452T>A (p.Leu151Gln)
c.551T>A (p.Leu184Gln)
c.7451T>A (p.Leu2484Gln)
c.220T>A (n.220T>A)
c.7448T>A (p.Leu2483Gln)
c.7460T>A (p.Leu2487Gln)
c.7439T>A (p.Leu2480Gln)
c.7094T>A (p.Leu2365Gln)
c.3440T>A (p.Leu1147Gln)
c.7334T>A (p.Leu2445Gln)
c.7325T>A (p.Leu2442Gln)
c.7340T>A (p.Leu2447Gln)
c.1637T>A (p.Leu546Gln)
Xg.31774040G>ACA515859331DMDc.2308C>T (p.Leu770=)
c.82C>T (p.Leu28=)
n.1123C>T
n.1045C>T
n.954C>T
c.7462C>T (p.Leu2488=)
c.3430C>T (p.Leu1144=)
c.451C>T (p.Leu151=)
c.550C>T (p.Leu184=)
c.7450C>T (p.Leu2484=)
c.219C>T (n.219C>T)
c.7447C>T (p.Leu2483=)
c.7459C>T (p.Leu2487=)
c.7438C>T (p.Leu2480=)
c.7093C>T (p.Leu2365=)
c.3439C>T (p.Leu1147=)
c.7333C>T (p.Leu2445=)
c.7324C>T (p.Leu2442=)
c.7339C>T (p.Leu2447=)
c.1636C>T (p.Leu546=)
 ClinVar dbSNP
Xg.31774040G>CCA412658880DMDc.2308C>G (p.Leu770Val)
c.82C>G (p.Leu28Val)
n.1123C>G
n.1045C>G
n.954C>G
c.7462C>G (p.Leu2488Val)
c.3430C>G (p.Leu1144Val)
c.451C>G (p.Leu151Val)
c.550C>G (p.Leu184Val)
c.7450C>G (p.Leu2484Val)
c.219C>G (n.219C>G)
c.7447C>G (p.Leu2483Val)
c.7459C>G (p.Leu2487Val)
c.7438C>G (p.Leu2480Val)
c.7093C>G (p.Leu2365Val)
c.3439C>G (p.Leu1147Val)
c.7333C>G (p.Leu2445Val)
c.7324C>G (p.Leu2442Val)
c.7339C>G (p.Leu2447Val)
c.1636C>G (p.Leu546Val)
Xg.31774040G>TCA412658881DMDc.2308C>A (p.Leu770Met)
c.82C>A (p.Leu28Met)
n.1123C>A
n.1045C>A
n.954C>A
c.7462C>A (p.Leu2488Met)
c.3430C>A (p.Leu1144Met)
c.451C>A (p.Leu151Met)
c.550C>A (p.Leu184Met)
c.7450C>A (p.Leu2484Met)
c.219C>A (n.219C>A)
c.7447C>A (p.Leu2483Met)
c.7459C>A (p.Leu2487Met)
c.7438C>A (p.Leu2480Met)
c.7093C>A (p.Leu2365Met)
c.3439C>A (p.Leu1147Met)
c.7333C>A (p.Leu2445Met)
c.7324C>A (p.Leu2442Met)
c.7339C>A (p.Leu2447Met)
c.1636C>A (p.Leu546Met)
Xg.31774041A>CCA515859332DMDc.2307T>G (p.Ser769=)
c.81T>G (p.Ser27=)
n.1122T>G
n.1044T>G
n.953T>G
c.7461T>G (p.Ser2487=)
c.3429T>G (p.Ser1143=)
c.450T>G (p.Ser150=)
c.549T>G (p.Ser183=)
c.7449T>G (p.Ser2483=)
c.218T>G (n.218T>G)
c.7446T>G (p.Ser2482=)
c.7458T>G (p.Ser2486=)
c.7437T>G (p.Ser2479=)
c.7092T>G (p.Ser2364=)
c.3438T>G (p.Ser1146=)
c.7332T>G (p.Ser2444=)
c.7323T>G (p.Ser2441=)
c.7338T>G (p.Ser2446=)
c.1635T>G (p.Ser545=)
Xg.31774041A>GCA515859333DMDc.2307T>C (p.Ser769=)
c.81T>C (p.Ser27=)
n.1122T>C
n.1044T>C
n.953T>C
c.7461T>C (p.Ser2487=)
c.3429T>C (p.Ser1143=)
c.450T>C (p.Ser150=)
c.549T>C (p.Ser183=)
c.7449T>C (p.Ser2483=)
c.218T>C (n.218T>C)
c.7446T>C (p.Ser2482=)
c.7458T>C (p.Ser2486=)
c.7437T>C (p.Ser2479=)
c.7092T>C (p.Ser2364=)
c.3438T>C (p.Ser1146=)
c.7332T>C (p.Ser2444=)
c.7323T>C (p.Ser2441=)
c.7338T>C (p.Ser2446=)
c.1635T>C (p.Ser545=)
Xg.31774041A>TCA515859334DMDc.2307T>A (p.Ser769=)
c.81T>A (p.Ser27=)
n.1122T>A
n.1044T>A
n.953T>A
c.7461T>A (p.Ser2487=)
c.3429T>A (p.Ser1143=)
c.450T>A (p.Ser150=)
c.549T>A (p.Ser183=)
c.7449T>A (p.Ser2483=)
c.218T>A (n.218T>A)
c.7446T>A (p.Ser2482=)
c.7458T>A (p.Ser2486=)
c.7437T>A (p.Ser2479=)
c.7092T>A (p.Ser2364=)
c.3438T>A (p.Ser1146=)
c.7332T>A (p.Ser2444=)
c.7323T>A (p.Ser2441=)
c.7338T>A (p.Ser2446=)
c.1635T>A (p.Ser545=)
Xg.31774042G>ACA412658882DMDc.2306C>T (p.Ser769Phe)
c.80C>T (p.Ser27Phe)
n.1121C>T
n.1043C>T
n.952C>T
c.7460C>T (p.Ser2487Phe)
c.3428C>T (p.Ser1143Phe)
c.449C>T (p.Ser150Phe)
c.548C>T (p.Ser183Phe)
c.7448C>T (p.Ser2483Phe)
c.217C>T (n.217C>T)
c.7445C>T (p.Ser2482Phe)
c.7457C>T (p.Ser2486Phe)
c.7436C>T (p.Ser2479Phe)
c.7091C>T (p.Ser2364Phe)
c.3437C>T (p.Ser1146Phe)
c.7331C>T (p.Ser2444Phe)
c.7322C>T (p.Ser2441Phe)
c.7337C>T (p.Ser2446Phe)
c.1634C>T (p.Ser545Phe)
Xg.31774042G>CCA412658884DMDc.2306C>G (p.Ser769Cys)
c.80C>G (p.Ser27Cys)
n.1121C>G
n.1043C>G
n.952C>G
c.7460C>G (p.Ser2487Cys)
c.3428C>G (p.Ser1143Cys)
c.449C>G (p.Ser150Cys)
c.548C>G (p.Ser183Cys)
c.7448C>G (p.Ser2483Cys)
c.217C>G (n.217C>G)
c.7445C>G (p.Ser2482Cys)
c.7457C>G (p.Ser2486Cys)
c.7436C>G (p.Ser2479Cys)
c.7091C>G (p.Ser2364Cys)
c.3437C>G (p.Ser1146Cys)
c.7331C>G (p.Ser2444Cys)
c.7322C>G (p.Ser2441Cys)
c.7337C>G (p.Ser2446Cys)
c.1634C>G (p.Ser545Cys)
Xg.31774042G>TCA412658883DMDc.2306C>A (p.Ser769Tyr)
c.80C>A (p.Ser27Tyr)
n.1121C>A
n.1043C>A
n.952C>A
c.7460C>A (p.Ser2487Tyr)
c.3428C>A (p.Ser1143Tyr)
c.449C>A (p.Ser150Tyr)
c.548C>A (p.Ser183Tyr)
c.7448C>A (p.Ser2483Tyr)
c.217C>A (n.217C>A)
c.7445C>A (p.Ser2482Tyr)
c.7457C>A (p.Ser2486Tyr)
c.7436C>A (p.Ser2479Tyr)
c.7091C>A (p.Ser2364Tyr)
c.3437C>A (p.Ser1146Tyr)
c.7331C>A (p.Ser2444Tyr)
c.7322C>A (p.Ser2441Tyr)
c.7337C>A (p.Ser2446Tyr)
c.1634C>A (p.Ser545Tyr)
 gnomAD v4
Xg.31774043A>CCA412658885DMDc.2305T>G (p.Ser769Ala)
c.79T>G (p.Ser27Ala)
n.1120T>G
n.1042T>G
n.951T>G
c.7459T>G (p.Ser2487Ala)
c.3427T>G (p.Ser1143Ala)
c.448T>G (p.Ser150Ala)
c.547T>G (p.Ser183Ala)
c.7447T>G (p.Ser2483Ala)
c.216T>G (n.216T>G)
c.7444T>G (p.Ser2482Ala)
c.7456T>G (p.Ser2486Ala)
c.7435T>G (p.Ser2479Ala)
c.7090T>G (p.Ser2364Ala)
c.3436T>G (p.Ser1146Ala)
c.7330T>G (p.Ser2444Ala)
c.7321T>G (p.Ser2441Ala)
c.7336T>G (p.Ser2446Ala)
c.1633T>G (p.Ser545Ala)
Xg.31774043A>GCA412658887DMDc.2305T>C (p.Ser769Pro)
c.79T>C (p.Ser27Pro)
n.1120T>C
n.1042T>C
n.951T>C
c.7459T>C (p.Ser2487Pro)
c.3427T>C (p.Ser1143Pro)
c.448T>C (p.Ser150Pro)
c.547T>C (p.Ser183Pro)
c.7447T>C (p.Ser2483Pro)
c.216T>C (n.216T>C)
c.7444T>C (p.Ser2482Pro)
c.7456T>C (p.Ser2486Pro)
c.7435T>C (p.Ser2479Pro)
c.7090T>C (p.Ser2364Pro)
c.3436T>C (p.Ser1146Pro)
c.7330T>C (p.Ser2444Pro)
c.7321T>C (p.Ser2441Pro)
c.7336T>C (p.Ser2446Pro)
c.1633T>C (p.Ser545Pro)
Xg.31774043A>TCA412658886DMDc.2305T>A (p.Ser769Thr)
c.79T>A (p.Ser27Thr)
n.1120T>A
n.1042T>A
n.951T>A
c.7459T>A (p.Ser2487Thr)
c.3427T>A (p.Ser1143Thr)
c.448T>A (p.Ser150Thr)
c.547T>A (p.Ser183Thr)
c.7447T>A (p.Ser2483Thr)
c.216T>A (n.216T>A)
c.7444T>A (p.Ser2482Thr)
c.7456T>A (p.Ser2486Thr)
c.7435T>A (p.Ser2479Thr)
c.7090T>A (p.Ser2364Thr)
c.3436T>A (p.Ser1146Thr)
c.7330T>A (p.Ser2444Thr)
c.7321T>A (p.Ser2441Thr)
c.7336T>A (p.Ser2446Thr)
c.1633T>A (p.Ser545Thr)
Xg.31774044A>CCA515859335DMDc.2304T>G (p.Leu768=)
c.78T>G (p.Leu26=)
n.1119T>G
n.1041T>G
n.950T>G
c.7458T>G (p.Leu2486=)
c.3426T>G (p.Leu1142=)
c.447T>G (p.Leu149=)
c.546T>G (p.Leu182=)
c.7446T>G (p.Leu2482=)
c.215T>G (n.215T>G)
c.7443T>G (p.Leu2481=)
c.7455T>G (p.Leu2485=)
c.7434T>G (p.Leu2478=)
c.7089T>G (p.Leu2363=)
c.3435T>G (p.Leu1145=)
c.7329T>G (p.Leu2443=)
c.7320T>G (p.Leu2440=)
c.7335T>G (p.Leu2445=)
c.1632T>G (p.Leu544=)
 ClinVar dbSNP
Xg.31774044A>GCA515859336DMDc.2304T>C (p.Leu768=)
c.78T>C (p.Leu26=)
n.1119T>C
n.1041T>C
n.950T>C
c.7458T>C (p.Leu2486=)
c.3426T>C (p.Leu1142=)
c.447T>C (p.Leu149=)
c.546T>C (p.Leu182=)
c.7446T>C (p.Leu2482=)
c.215T>C (n.215T>C)
c.7443T>C (p.Leu2481=)
c.7455T>C (p.Leu2485=)
c.7434T>C (p.Leu2478=)
c.7089T>C (p.Leu2363=)
c.3435T>C (p.Leu1145=)
c.7329T>C (p.Leu2443=)
c.7320T>C (p.Leu2440=)
c.7335T>C (p.Leu2445=)
c.1632T>C (p.Leu544=)
Xg.31774044A>TCA515859337DMDc.2304T>A (p.Leu768=)
c.78T>A (p.Leu26=)
n.1119T>A
n.1041T>A
n.950T>A
c.7458T>A (p.Leu2486=)
c.3426T>A (p.Leu1142=)
c.447T>A (p.Leu149=)
c.546T>A (p.Leu182=)
c.7446T>A (p.Leu2482=)
c.215T>A (n.215T>A)
c.7443T>A (p.Leu2481=)
c.7455T>A (p.Leu2485=)
c.7434T>A (p.Leu2478=)
c.7089T>A (p.Leu2363=)
c.3435T>A (p.Leu1145=)
c.7329T>A (p.Leu2443=)
c.7320T>A (p.Leu2440=)
c.7335T>A (p.Leu2445=)
c.1632T>A (p.Leu544=)
Xg.31774045A>CCA412658888DMDc.2303T>G (p.Leu768Arg)
c.77T>G (p.Leu26Arg)
n.1118T>G
n.1040T>G
n.949T>G
c.7457T>G (p.Leu2486Arg)
c.3425T>G (p.Leu1142Arg)
c.446T>G (p.Leu149Arg)
c.545T>G (p.Leu182Arg)
c.7445T>G (p.Leu2482Arg)
c.214T>G (n.214T>G)
c.7442T>G (p.Leu2481Arg)
c.7454T>G (p.Leu2485Arg)
c.7433T>G (p.Leu2478Arg)
c.7088T>G (p.Leu2363Arg)
c.3434T>G (p.Leu1145Arg)
c.7328T>G (p.Leu2443Arg)
c.7319T>G (p.Leu2440Arg)
c.7334T>G (p.Leu2445Arg)
c.1631T>G (p.Leu544Arg)
Xg.31774045A>GCA412658890DMDc.2303T>C (p.Leu768Pro)
c.77T>C (p.Leu26Pro)
n.1118T>C
n.1040T>C
n.949T>C
c.7457T>C (p.Leu2486Pro)
c.3425T>C (p.Leu1142Pro)
c.446T>C (p.Leu149Pro)
c.545T>C (p.Leu182Pro)
c.7445T>C (p.Leu2482Pro)
c.214T>C (n.214T>C)
c.7442T>C (p.Leu2481Pro)
c.7454T>C (p.Leu2485Pro)
c.7433T>C (p.Leu2478Pro)
c.7088T>C (p.Leu2363Pro)
c.3434T>C (p.Leu1145Pro)
c.7328T>C (p.Leu2443Pro)
c.7319T>C (p.Leu2440Pro)
c.7334T>C (p.Leu2445Pro)
c.1631T>C (p.Leu544Pro)
Xg.31774045A>TCA412658889DMDc.2303T>A (p.Leu768His)
c.77T>A (p.Leu26His)
n.1118T>A
n.1040T>A
n.949T>A
c.7457T>A (p.Leu2486His)
c.3425T>A (p.Leu1142His)
c.446T>A (p.Leu149His)
c.545T>A (p.Leu182His)
c.7445T>A (p.Leu2482His)
c.214T>A (n.214T>A)
c.7442T>A (p.Leu2481His)
c.7454T>A (p.Leu2485His)
c.7433T>A (p.Leu2478His)
c.7088T>A (p.Leu2363His)
c.3434T>A (p.Leu1145His)
c.7328T>A (p.Leu2443His)
c.7319T>A (p.Leu2440His)
c.7334T>A (p.Leu2445His)
c.1631T>A (p.Leu544His)
Xg.31774046G>ACA412658891DMDc.2302C>T (p.Leu768Phe)
c.76C>T (p.Leu26Phe)
n.1117C>T
n.1039C>T
n.948C>T
c.7456C>T (p.Leu2486Phe)
c.3424C>T (p.Leu1142Phe)
c.445C>T (p.Leu149Phe)
c.544C>T (p.Leu182Phe)
c.7444C>T (p.Leu2482Phe)
c.213C>T (n.213C>T)
c.7441C>T (p.Leu2481Phe)
c.7453C>T (p.Leu2485Phe)
c.7432C>T (p.Leu2478Phe)
c.7087C>T (p.Leu2363Phe)
c.3433C>T (p.Leu1145Phe)
c.7327C>T (p.Leu2443Phe)
c.7318C>T (p.Leu2440Phe)
c.7333C>T (p.Leu2445Phe)
c.1630C>T (p.Leu544Phe)
 ClinVar
Xg.31774046G>CCA412658892DMDc.2302C>G (p.Leu768Val)
c.76C>G (p.Leu26Val)
n.1117C>G
n.1039C>G
n.948C>G
c.7456C>G (p.Leu2486Val)
c.3424C>G (p.Leu1142Val)
c.445C>G (p.Leu149Val)
c.544C>G (p.Leu182Val)
c.7444C>G (p.Leu2482Val)
c.213C>G (n.213C>G)
c.7441C>G (p.Leu2481Val)
c.7453C>G (p.Leu2485Val)
c.7432C>G (p.Leu2478Val)
c.7087C>G (p.Leu2363Val)
c.3433C>G (p.Leu1145Val)
c.7327C>G (p.Leu2443Val)
c.7318C>G (p.Leu2440Val)
c.7333C>G (p.Leu2445Val)
c.1630C>G (p.Leu544Val)
Xg.31774046G=CA2422548634DMDc.2302C= (p.Leu768=)
c.76C= (p.Leu26=)
n.1117C=
n.1039C=
n.948C=
c.7456C= (p.Leu2486=)
c.3424C= (p.Leu1142=)
c.445C= (p.Leu149=)
c.544C= (p.Leu182=)
c.7444C= (p.Leu2482=)
c.213C= (n.213C=)
c.7441C= (p.Leu2481=)
c.7453C= (p.Leu2485=)
c.7432C= (p.Leu2478=)
c.7087C= (p.Leu2363=)
c.3433C= (p.Leu1145=)
c.7327C= (p.Leu2443=)
c.7318C= (p.Leu2440=)
c.7333C= (p.Leu2445=)
c.1630C= (p.Leu544=)
Xg.31774046G>TCA412658893DMDc.2302C>A (p.Leu768Ile)
c.76C>A (p.Leu26Ile)
n.1117C>A
n.1039C>A
n.948C>A
c.7456C>A (p.Leu2486Ile)
c.3424C>A (p.Leu1142Ile)
c.445C>A (p.Leu149Ile)
c.544C>A (p.Leu182Ile)
c.7444C>A (p.Leu2482Ile)
c.213C>A (n.213C>A)
c.7441C>A (p.Leu2481Ile)
c.7453C>A (p.Leu2485Ile)
c.7432C>A (p.Leu2478Ile)
c.7087C>A (p.Leu2363Ile)
c.3433C>A (p.Leu1145Ile)
c.7327C>A (p.Leu2443Ile)
c.7318C>A (p.Leu2440Ile)
c.7333C>A (p.Leu2445Ile)
c.1630C>A (p.Leu544Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774047C>ACA10378272DMDc.2301G>T (p.Trp767Cys)
c.75G>T (p.Trp25Cys)
n.1116G>T
n.1038G>T
n.947G>T
c.7455G>T (p.Trp2485Cys)
c.3423G>T (p.Trp1141Cys)
c.444G>T (p.Trp148Cys)
c.543G>T (p.Trp181Cys)
c.7443G>T (p.Trp2481Cys)
c.212G>T (n.212G>T)
c.7440G>T (p.Trp2480Cys)
c.7452G>T (p.Trp2484Cys)
c.7431G>T (p.Trp2477Cys)
c.7086G>T (p.Trp2362Cys)
c.3432G>T (p.Trp1144Cys)
c.7326G>T (p.Trp2442Cys)
c.7317G>T (p.Trp2439Cys)
c.7332G>T (p.Trp2444Cys)
c.1629G>T (p.Trp543Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774047C=CA2422548635DMDc.2301G= (p.Trp767=)
c.75G= (p.Trp25=)
n.1116G=
n.1038G=
n.947G=
c.7455G= (p.Trp2485=)
c.3423G= (p.Trp1141=)
c.444G= (p.Trp148=)
c.543G= (p.Trp181=)
c.7443G= (p.Trp2481=)
c.212G= (n.212G=)
c.7440G= (p.Trp2480=)
c.7452G= (p.Trp2484=)
c.7431G= (p.Trp2477=)
c.7086G= (p.Trp2362=)
c.3432G= (p.Trp1144=)
c.7326G= (p.Trp2442=)
c.7317G= (p.Trp2439=)
c.7332G= (p.Trp2444=)
c.1629G= (p.Trp543=)
Xg.31774047C>GCA412658894DMDc.2301G>C (p.Trp767Cys)
c.75G>C (p.Trp25Cys)
n.1116G>C
n.1038G>C
n.947G>C
c.7455G>C (p.Trp2485Cys)
c.3423G>C (p.Trp1141Cys)
c.444G>C (p.Trp148Cys)
c.543G>C (p.Trp181Cys)
c.7443G>C (p.Trp2481Cys)
c.212G>C (n.212G>C)
c.7440G>C (p.Trp2480Cys)
c.7452G>C (p.Trp2484Cys)
c.7431G>C (p.Trp2477Cys)
c.7086G>C (p.Trp2362Cys)
c.3432G>C (p.Trp1144Cys)
c.7326G>C (p.Trp2442Cys)
c.7317G>C (p.Trp2439Cys)
c.7332G>C (p.Trp2444Cys)
c.1629G>C (p.Trp543Cys)
Xg.31774047C>TCA412658895DMDc.2301G>A (p.Trp767Ter)
c.75G>A (p.Trp25Ter)
n.1116G>A
n.1038G>A
n.947G>A
c.7455G>A (p.Trp2485Ter)
c.3423G>A (p.Trp1141Ter)
c.444G>A (p.Trp148Ter)
c.543G>A (p.Trp181Ter)
c.7443G>A (p.Trp2481Ter)
c.212G>A (n.212G>A)
c.7440G>A (p.Trp2480Ter)
c.7452G>A (p.Trp2484Ter)
c.7431G>A (p.Trp2477Ter)
c.7086G>A (p.Trp2362Ter)
c.3432G>A (p.Trp1144Ter)
c.7326G>A (p.Trp2442Ter)
c.7317G>A (p.Trp2439Ter)
c.7332G>A (p.Trp2444Ter)
c.1629G>A (p.Trp543Ter)
Xg.31774048C>ACA328470492DMDc.2300G>T (p.Trp767Leu)
c.74G>T (p.Trp25Leu)
n.1115G>T
n.1037G>T
n.946G>T
c.7454G>T (p.Trp2485Leu)
c.3422G>T (p.Trp1141Leu)
c.443G>T (p.Trp148Leu)
c.542G>T (p.Trp181Leu)
c.7442G>T (p.Trp2481Leu)
c.211G>T (n.211G>T)
c.7439G>T (p.Trp2480Leu)
c.7451G>T (p.Trp2484Leu)
c.7430G>T (p.Trp2477Leu)
c.7085G>T (p.Trp2362Leu)
c.3431G>T (p.Trp1144Leu)
c.7325G>T (p.Trp2442Leu)
c.7316G>T (p.Trp2439Leu)
c.7331G>T (p.Trp2444Leu)
c.1628G>T (p.Trp543Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774048C=CA2422548636DMDc.2300G= (p.Trp767=)
c.74G= (p.Trp25=)
n.1115G=
n.1037G=
n.946G=
c.7454G= (p.Trp2485=)
c.3422G= (p.Trp1141=)
c.443G= (p.Trp148=)
c.542G= (p.Trp181=)
c.7442G= (p.Trp2481=)
c.211G= (n.211G=)
c.7439G= (p.Trp2480=)
c.7451G= (p.Trp2484=)
c.7430G= (p.Trp2477=)
c.7085G= (p.Trp2362=)
c.3431G= (p.Trp1144=)
c.7325G= (p.Trp2442=)
c.7316G= (p.Trp2439=)
c.7331G= (p.Trp2444=)
c.1628G= (p.Trp543=)
Xg.31774048C>GCA412658896DMDc.2300G>C (p.Trp767Ser)
c.74G>C (p.Trp25Ser)
n.1115G>C
n.1037G>C
n.946G>C
c.7454G>C (p.Trp2485Ser)
c.3422G>C (p.Trp1141Ser)
c.443G>C (p.Trp148Ser)
c.542G>C (p.Trp181Ser)
c.7442G>C (p.Trp2481Ser)
c.211G>C (n.211G>C)
c.7439G>C (p.Trp2480Ser)
c.7451G>C (p.Trp2484Ser)
c.7430G>C (p.Trp2477Ser)
c.7085G>C (p.Trp2362Ser)
c.3431G>C (p.Trp1144Ser)
c.7325G>C (p.Trp2442Ser)
c.7316G>C (p.Trp2439Ser)
c.7331G>C (p.Trp2444Ser)
c.1628G>C (p.Trp543Ser)
Xg.31774048C>TCA412658897DMDc.2300G>A (p.Trp767Ter)
c.74G>A (p.Trp25Ter)
n.1115G>A
n.1037G>A
n.946G>A
c.7454G>A (p.Trp2485Ter)
c.3422G>A (p.Trp1141Ter)
c.443G>A (p.Trp148Ter)
c.542G>A (p.Trp181Ter)
c.7442G>A (p.Trp2481Ter)
c.211G>A (n.211G>A)
c.7439G>A (p.Trp2480Ter)
c.7451G>A (p.Trp2484Ter)
c.7430G>A (p.Trp2477Ter)
c.7085G>A (p.Trp2362Ter)
c.3431G>A (p.Trp1144Ter)
c.7325G>A (p.Trp2442Ter)
c.7316G>A (p.Trp2439Ter)
c.7331G>A (p.Trp2444Ter)
c.1628G>A (p.Trp543Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774049A>CCA412658898DMDc.2299T>G (p.Trp767Gly)
c.73T>G (p.Trp25Gly)
n.1114T>G
n.1036T>G
n.945T>G
c.7453T>G (p.Trp2485Gly)
c.3421T>G (p.Trp1141Gly)
c.442T>G (p.Trp148Gly)
c.541T>G (p.Trp181Gly)
c.7441T>G (p.Trp2481Gly)
c.210T>G (n.210T>G)
c.7438T>G (p.Trp2480Gly)
c.7450T>G (p.Trp2484Gly)
c.7429T>G (p.Trp2477Gly)
c.7084T>G (p.Trp2362Gly)
c.3430T>G (p.Trp1144Gly)
c.7324T>G (p.Trp2442Gly)
c.7315T>G (p.Trp2439Gly)
c.7330T>G (p.Trp2444Gly)
c.1627T>G (p.Trp543Gly)
Xg.31774049A>GCA412658899DMDc.2299T>C (p.Trp767Arg)
c.73T>C (p.Trp25Arg)
n.1114T>C
n.1036T>C
n.945T>C
c.7453T>C (p.Trp2485Arg)
c.3421T>C (p.Trp1141Arg)
c.442T>C (p.Trp148Arg)
c.541T>C (p.Trp181Arg)
c.7441T>C (p.Trp2481Arg)
c.210T>C (n.210T>C)
c.7438T>C (p.Trp2480Arg)
c.7450T>C (p.Trp2484Arg)
c.7429T>C (p.Trp2477Arg)
c.7084T>C (p.Trp2362Arg)
c.3430T>C (p.Trp1144Arg)
c.7324T>C (p.Trp2442Arg)
c.7315T>C (p.Trp2439Arg)
c.7330T>C (p.Trp2444Arg)
c.1627T>C (p.Trp543Arg)
Xg.31774049A>TCA412658900DMDc.2299T>A (p.Trp767Arg)
c.73T>A (p.Trp25Arg)
n.1114T>A
n.1036T>A
n.945T>A
c.7453T>A (p.Trp2485Arg)
c.3421T>A (p.Trp1141Arg)
c.442T>A (p.Trp148Arg)
c.541T>A (p.Trp181Arg)
c.7441T>A (p.Trp2481Arg)
c.210T>A (n.210T>A)
c.7438T>A (p.Trp2480Arg)
c.7450T>A (p.Trp2484Arg)
c.7429T>A (p.Trp2477Arg)
c.7084T>A (p.Trp2362Arg)
c.3430T>A (p.Trp1144Arg)
c.7324T>A (p.Trp2442Arg)
c.7315T>A (p.Trp2439Arg)
c.7330T>A (p.Trp2444Arg)
c.1627T>A (p.Trp543Arg)
Xg.31774050G>ACA515859338DMDc.2298C>T (p.Asp766=)
c.72C>T (p.Asp24=)
n.1113C>T
n.1035C>T
n.944C>T
c.7452C>T (p.Asp2484=)
c.3420C>T (p.Asp1140=)
c.441C>T (p.Asp147=)
c.540C>T (p.Asp180=)
c.7440C>T (p.Asp2480=)
c.209C>T (n.209C>T)
c.7437C>T (p.Asp2479=)
c.7449C>T (p.Asp2483=)
c.7428C>T (p.Asp2476=)
c.7083C>T (p.Asp2361=)
c.3429C>T (p.Asp1143=)
c.7323C>T (p.Asp2441=)
c.7314C>T (p.Asp2438=)
c.7329C>T (p.Asp2443=)
c.1626C>T (p.Asp542=)
 dbSNP
Xg.31774050G>CCA412658901DMDc.2298C>G (p.Asp766Glu)
c.72C>G (p.Asp24Glu)
n.1113C>G
n.1035C>G
n.944C>G
c.7452C>G (p.Asp2484Glu)
c.3420C>G (p.Asp1140Glu)
c.441C>G (p.Asp147Glu)
c.540C>G (p.Asp180Glu)
c.7440C>G (p.Asp2480Glu)
c.209C>G (n.209C>G)
c.7437C>G (p.Asp2479Glu)
c.7449C>G (p.Asp2483Glu)
c.7428C>G (p.Asp2476Glu)
c.7083C>G (p.Asp2361Glu)
c.3429C>G (p.Asp1143Glu)
c.7323C>G (p.Asp2441Glu)
c.7314C>G (p.Asp2438Glu)
c.7329C>G (p.Asp2443Glu)
c.1626C>G (p.Asp542Glu)
Xg.31774050G=CA2422548637DMDc.2298C= (p.Asp766=)
c.72C= (p.Asp24=)
n.1113C=
n.1035C=
n.944C=
c.7452C= (p.Asp2484=)
c.3420C= (p.Asp1140=)
c.441C= (p.Asp147=)
c.540C= (p.Asp180=)
c.7440C= (p.Asp2480=)
c.209C= (n.209C=)
c.7437C= (p.Asp2479=)
c.7449C= (p.Asp2483=)
c.7428C= (p.Asp2476=)
c.7083C= (p.Asp2361=)
c.3429C= (p.Asp1143=)
c.7323C= (p.Asp2441=)
c.7314C= (p.Asp2438=)
c.7329C= (p.Asp2443=)
c.1626C= (p.Asp542=)
Xg.31774050G>TCA412658902DMDc.2298C>A (p.Asp766Glu)
c.72C>A (p.Asp24Glu)
n.1113C>A
n.1035C>A
n.944C>A
c.7452C>A (p.Asp2484Glu)
c.3420C>A (p.Asp1140Glu)
c.441C>A (p.Asp147Glu)
c.540C>A (p.Asp180Glu)
c.7440C>A (p.Asp2480Glu)
c.209C>A (n.209C>A)
c.7437C>A (p.Asp2479Glu)
c.7449C>A (p.Asp2483Glu)
c.7428C>A (p.Asp2476Glu)
c.7083C>A (p.Asp2361Glu)
c.3429C>A (p.Asp1143Glu)
c.7323C>A (p.Asp2441Glu)
c.7314C>A (p.Asp2438Glu)
c.7329C>A (p.Asp2443Glu)
c.1626C>A (p.Asp542Glu)
 ClinVar gnomAD v4
Xg.31774051T>ACA412658903DMDc.2297A>T (p.Asp766Val)
c.71A>T (p.Asp24Val)
n.1112A>T
n.1034A>T
n.943A>T
c.7451A>T (p.Asp2484Val)
c.3419A>T (p.Asp1140Val)
c.440A>T (p.Asp147Val)
c.539A>T (p.Asp180Val)
c.7439A>T (p.Asp2480Val)
c.208A>T (n.208A>T)
c.7436A>T (p.Asp2479Val)
c.7448A>T (p.Asp2483Val)
c.7427A>T (p.Asp2476Val)
c.7082A>T (p.Asp2361Val)
c.3428A>T (p.Asp1143Val)
c.7322A>T (p.Asp2441Val)
c.7313A>T (p.Asp2438Val)
c.7328A>T (p.Asp2443Val)
c.1625A>T (p.Asp542Val)
Xg.31774051T>CCA412658904DMDc.2297A>G (p.Asp766Gly)
c.71A>G (p.Asp24Gly)
n.1112A>G
n.1034A>G
n.943A>G
c.7451A>G (p.Asp2484Gly)
c.3419A>G (p.Asp1140Gly)
c.440A>G (p.Asp147Gly)
c.539A>G (p.Asp180Gly)
c.7439A>G (p.Asp2480Gly)
c.208A>G (n.208A>G)
c.7436A>G (p.Asp2479Gly)
c.7448A>G (p.Asp2483Gly)
c.7427A>G (p.Asp2476Gly)
c.7082A>G (p.Asp2361Gly)
c.3428A>G (p.Asp1143Gly)
c.7322A>G (p.Asp2441Gly)
c.7313A>G (p.Asp2438Gly)
c.7328A>G (p.Asp2443Gly)
c.1625A>G (p.Asp542Gly)
Xg.31774051T>GCA412658905DMDc.2297A>C (p.Asp766Ala)
c.71A>C (p.Asp24Ala)
n.1112A>C
n.1034A>C
n.943A>C
c.7451A>C (p.Asp2484Ala)
c.3419A>C (p.Asp1140Ala)
c.440A>C (p.Asp147Ala)
c.539A>C (p.Asp180Ala)
c.7439A>C (p.Asp2480Ala)
c.208A>C (n.208A>C)
c.7436A>C (p.Asp2479Ala)
c.7448A>C (p.Asp2483Ala)
c.7427A>C (p.Asp2476Ala)
c.7082A>C (p.Asp2361Ala)
c.3428A>C (p.Asp1143Ala)
c.7322A>C (p.Asp2441Ala)
c.7313A>C (p.Asp2438Ala)
c.7328A>C (p.Asp2443Ala)
c.1625A>C (p.Asp542Ala)
Xg.31774051_31774055delinsAGACA2695232442DMDc.2293_2297delinsTCT (p.Thr765SerfsTer7)
c.67_71delinsTCT (p.Thr23SerfsTer7)
n.1108_1112delinsTCT
n.1030_1034delinsTCT
n.939_943delinsTCT
c.7447_7451delinsTCT (p.Thr2483SerfsTer7)
c.3415_3419delinsTCT (p.Thr1139SerfsTer7)
c.436_440delinsTCT (p.Thr146SerfsTer7)
c.535_539delinsTCT (p.Thr179SerfsTer7)
c.7435_7439delinsTCT (p.Thr2479SerfsTer7)
c.204_208delinsTCT (n.204_208delinsTCT)
c.7432_7436delinsTCT (p.Thr2478SerfsTer7)
c.7444_7448delinsTCT (p.Thr2482SerfsTer7)
c.7423_7427delinsTCT (p.Thr2475SerfsTer7)
c.7078_7082delinsTCT (p.Thr2360SerfsTer7)
c.3424_3428delinsTCT (p.Thr1142SerfsTer7)
c.7318_7322delinsTCT (p.Thr2440SerfsTer7)
c.7309_7313delinsTCT (p.Thr2437SerfsTer7)
c.7324_7328delinsTCT (p.Thr2442SerfsTer7)
c.1621_1625delinsTCT (p.Thr541SerfsTer7)
Xg.31774052C>ACA412658906DMDc.2296G>T (p.Asp766Tyr)
c.70G>T (p.Asp24Tyr)
n.1111G>T
n.1033G>T
n.942G>T
c.7450G>T (p.Asp2484Tyr)
c.3418G>T (p.Asp1140Tyr)
c.439G>T (p.Asp147Tyr)
c.538G>T (p.Asp180Tyr)
c.7438G>T (p.Asp2480Tyr)
c.207G>T (n.207G>T)
c.7435G>T (p.Asp2479Tyr)
c.7447G>T (p.Asp2483Tyr)
c.7426G>T (p.Asp2476Tyr)
c.7081G>T (p.Asp2361Tyr)
c.3427G>T (p.Asp1143Tyr)
c.7321G>T (p.Asp2441Tyr)
c.7312G>T (p.Asp2438Tyr)
c.7327G>T (p.Asp2443Tyr)
c.1624G>T (p.Asp542Tyr)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774052C=CA2422548638DMDc.2296G= (p.Asp766=)
c.70G= (p.Asp24=)
n.1111G=
n.1033G=
n.942G=
c.7450G= (p.Asp2484=)
c.3418G= (p.Asp1140=)
c.439G= (p.Asp147=)
c.538G= (p.Asp180=)
c.7438G= (p.Asp2480=)
c.207G= (n.207G=)
c.7435G= (p.Asp2479=)
c.7447G= (p.Asp2483=)
c.7426G= (p.Asp2476=)
c.7081G= (p.Asp2361=)
c.3427G= (p.Asp1143=)
c.7321G= (p.Asp2441=)
c.7312G= (p.Asp2438=)
c.7327G= (p.Asp2443=)
c.1624G= (p.Asp542=)
Xg.31774052C>GCA10378274DMDc.2296G>C (p.Asp766His)
c.70G>C (p.Asp24His)
n.1111G>C
n.1033G>C
n.942G>C
c.7450G>C (p.Asp2484His)
c.3418G>C (p.Asp1140His)
c.439G>C (p.Asp147His)
c.538G>C (p.Asp180His)
c.7438G>C (p.Asp2480His)
c.207G>C (n.207G>C)
c.7435G>C (p.Asp2479His)
c.7447G>C (p.Asp2483His)
c.7426G>C (p.Asp2476His)
c.7081G>C (p.Asp2361His)
c.3427G>C (p.Asp1143His)
c.7321G>C (p.Asp2441His)
c.7312G>C (p.Asp2438His)
c.7327G>C (p.Asp2443His)
c.1624G>C (p.Asp542His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774052C>TCA10378273DMDc.2296G>A (p.Asp766Asn)
c.70G>A (p.Asp24Asn)
n.1111G>A
n.1033G>A
n.942G>A
c.7450G>A (p.Asp2484Asn)
c.3418G>A (p.Asp1140Asn)
c.439G>A (p.Asp147Asn)
c.538G>A (p.Asp180Asn)
c.7438G>A (p.Asp2480Asn)
c.207G>A (n.207G>A)
c.7435G>A (p.Asp2479Asn)
c.7447G>A (p.Asp2483Asn)
c.7426G>A (p.Asp2476Asn)
c.7081G>A (p.Asp2361Asn)
c.3427G>A (p.Asp1143Asn)
c.7321G>A (p.Asp2441Asn)
c.7312G>A (p.Asp2438Asn)
c.7327G>A (p.Asp2443Asn)
c.1624G>A (p.Asp542Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774053G>ACA10378275DMDc.2295C>T (p.Thr765=)
c.69C>T (p.Thr23=)
n.1110C>T
n.1032C>T
n.941C>T
c.7449C>T (p.Thr2483=)
c.3417C>T (p.Thr1139=)
c.438C>T (p.Thr146=)
c.537C>T (p.Thr179=)
c.7437C>T (p.Thr2479=)
c.206C>T (n.206C>T)
c.7434C>T (p.Thr2478=)
c.7446C>T (p.Thr2482=)
c.7425C>T (p.Thr2475=)
c.7080C>T (p.Thr2360=)
c.3426C>T (p.Thr1142=)
c.7320C>T (p.Thr2440=)
c.7311C>T (p.Thr2437=)
c.7326C>T (p.Thr2442=)
c.1623C>T (p.Thr541=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774053G>CCA515859339DMDc.2295C>G (p.Thr765=)
c.69C>G (p.Thr23=)
n.1110C>G
n.1032C>G
n.941C>G
c.7449C>G (p.Thr2483=)
c.3417C>G (p.Thr1139=)
c.438C>G (p.Thr146=)
c.537C>G (p.Thr179=)
c.7437C>G (p.Thr2479=)
c.206C>G (n.206C>G)
c.7434C>G (p.Thr2478=)
c.7446C>G (p.Thr2482=)
c.7425C>G (p.Thr2475=)
c.7080C>G (p.Thr2360=)
c.3426C>G (p.Thr1142=)
c.7320C>G (p.Thr2440=)
c.7311C>G (p.Thr2437=)
c.7326C>G (p.Thr2442=)
c.1623C>G (p.Thr541=)
Xg.31774053G=CA2422548639DMDc.2295C= (p.Thr765=)
c.69C= (p.Thr23=)
n.1110C=
n.1032C=
n.941C=
c.7449C= (p.Thr2483=)
c.3417C= (p.Thr1139=)
c.438C= (p.Thr146=)
c.537C= (p.Thr179=)
c.7437C= (p.Thr2479=)
c.206C= (n.206C=)
c.7434C= (p.Thr2478=)
c.7446C= (p.Thr2482=)
c.7425C= (p.Thr2475=)
c.7080C= (p.Thr2360=)
c.3426C= (p.Thr1142=)
c.7320C= (p.Thr2440=)
c.7311C= (p.Thr2437=)
c.7326C= (p.Thr2442=)
c.1623C= (p.Thr541=)
Xg.31774053G>TCA515859340DMDc.2295C>A (p.Thr765=)
c.69C>A (p.Thr23=)
n.1110C>A
n.1032C>A
n.941C>A
c.7449C>A (p.Thr2483=)
c.3417C>A (p.Thr1139=)
c.438C>A (p.Thr146=)
c.537C>A (p.Thr179=)
c.7437C>A (p.Thr2479=)
c.206C>A (n.206C>A)
c.7434C>A (p.Thr2478=)
c.7446C>A (p.Thr2482=)
c.7425C>A (p.Thr2475=)
c.7080C>A (p.Thr2360=)
c.3426C>A (p.Thr1142=)
c.7320C>A (p.Thr2440=)
c.7311C>A (p.Thr2437=)
c.7326C>A (p.Thr2442=)
c.1623C>A (p.Thr541=)
 ClinVar
Xg.31774054delCA2499226632DMDc.2295del (p.Asp766ThrfsTer10)
c.69del (p.Asp24ThrfsTer10)
n.1110del
n.1032del
n.941del
c.7449del (p.Asp2484ThrfsTer10)
c.3417del (p.Asp1140ThrfsTer10)
c.438del (p.Asp147ThrfsTer10)
c.537del (p.Asp180ThrfsTer10)
c.7437del (p.Asp2480ThrfsTer10)
c.206del (n.206del)
c.7434del (p.Asp2479ThrfsTer10)
c.7446del (p.Asp2483ThrfsTer10)
c.7425del (p.Asp2476ThrfsTer10)
c.7080del (p.Asp2361ThrfsTer10)
c.3426del (p.Asp1143ThrfsTer10)
c.7320del (p.Asp2441ThrfsTer10)
c.7311del (p.Asp2438ThrfsTer10)
c.7326del (p.Asp2443ThrfsTer10)
c.1623del (p.Asp542ThrfsTer10)
 ClinVar dbSNP
Xg.31774054G>ACA412658907DMDc.2294C>T (p.Thr765Ile)
c.68C>T (p.Thr23Ile)
n.1109C>T
n.1031C>T
n.940C>T
c.7448C>T (p.Thr2483Ile)
c.3416C>T (p.Thr1139Ile)
c.437C>T (p.Thr146Ile)
c.536C>T (p.Thr179Ile)
c.7436C>T (p.Thr2479Ile)
c.205C>T (n.205C>T)
c.7433C>T (p.Thr2478Ile)
c.7445C>T (p.Thr2482Ile)
c.7424C>T (p.Thr2475Ile)
c.7079C>T (p.Thr2360Ile)
c.3425C>T (p.Thr1142Ile)
c.7319C>T (p.Thr2440Ile)
c.7310C>T (p.Thr2437Ile)
c.7325C>T (p.Thr2442Ile)
c.1622C>T (p.Thr541Ile)
 dbSNP
Xg.31774054G>CCA412658908DMDc.2294C>G (p.Thr765Ser)
c.68C>G (p.Thr23Ser)
n.1109C>G
n.1031C>G
n.940C>G
c.7448C>G (p.Thr2483Ser)
c.3416C>G (p.Thr1139Ser)
c.437C>G (p.Thr146Ser)
c.536C>G (p.Thr179Ser)
c.7436C>G (p.Thr2479Ser)
c.205C>G (n.205C>G)
c.7433C>G (p.Thr2478Ser)
c.7445C>G (p.Thr2482Ser)
c.7424C>G (p.Thr2475Ser)
c.7079C>G (p.Thr2360Ser)
c.3425C>G (p.Thr1142Ser)
c.7319C>G (p.Thr2440Ser)
c.7310C>G (p.Thr2437Ser)
c.7325C>G (p.Thr2442Ser)
c.1622C>G (p.Thr541Ser)
Xg.31774054G=CA2422548640DMDc.2294C= (p.Thr765=)
c.68C= (p.Thr23=)
n.1109C=
n.1031C=
n.940C=
c.7448C= (p.Thr2483=)
c.3416C= (p.Thr1139=)
c.437C= (p.Thr146=)
c.536C= (p.Thr179=)
c.7436C= (p.Thr2479=)
c.205C= (n.205C=)
c.7433C= (p.Thr2478=)
c.7445C= (p.Thr2482=)
c.7424C= (p.Thr2475=)
c.7079C= (p.Thr2360=)
c.3425C= (p.Thr1142=)
c.7319C= (p.Thr2440=)
c.7310C= (p.Thr2437=)
c.7325C= (p.Thr2442=)
c.1622C= (p.Thr541=)
Xg.31774054G>TCA10378276DMDc.2294C>A (p.Thr765Asn)
c.68C>A (p.Thr23Asn)
n.1109C>A
n.1031C>A
n.940C>A
c.7448C>A (p.Thr2483Asn)
c.3416C>A (p.Thr1139Asn)
c.437C>A (p.Thr146Asn)
c.536C>A (p.Thr179Asn)
c.7436C>A (p.Thr2479Asn)
c.205C>A (n.205C>A)
c.7433C>A (p.Thr2478Asn)
c.7445C>A (p.Thr2482Asn)
c.7424C>A (p.Thr2475Asn)
c.7079C>A (p.Thr2360Asn)
c.3425C>A (p.Thr1142Asn)
c.7319C>A (p.Thr2440Asn)
c.7310C>A (p.Thr2437Asn)
c.7325C>A (p.Thr2442Asn)
c.1622C>A (p.Thr541Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774055T>ACA412658911DMDc.2293A>T (p.Thr765Ser)
c.67A>T (p.Thr23Ser)
n.1108A>T
n.1030A>T
n.939A>T
c.7447A>T (p.Thr2483Ser)
c.3415A>T (p.Thr1139Ser)
c.436A>T (p.Thr146Ser)
c.535A>T (p.Thr179Ser)
c.7435A>T (p.Thr2479Ser)
c.204A>T (n.204A>T)
c.7432A>T (p.Thr2478Ser)
c.7444A>T (p.Thr2482Ser)
c.7423A>T (p.Thr2475Ser)
c.7078A>T (p.Thr2360Ser)
c.3424A>T (p.Thr1142Ser)
c.7318A>T (p.Thr2440Ser)
c.7309A>T (p.Thr2437Ser)
c.7324A>T (p.Thr2442Ser)
c.1621A>T (p.Thr541Ser)
Xg.31774055T>CCA412658910DMDc.2293A>G (p.Thr765Ala)
c.67A>G (p.Thr23Ala)
n.1108A>G
n.1030A>G
n.939A>G
c.7447A>G (p.Thr2483Ala)
c.3415A>G (p.Thr1139Ala)
c.436A>G (p.Thr146Ala)
c.535A>G (p.Thr179Ala)
c.7435A>G (p.Thr2479Ala)
c.204A>G (n.204A>G)
c.7432A>G (p.Thr2478Ala)
c.7444A>G (p.Thr2482Ala)
c.7423A>G (p.Thr2475Ala)
c.7078A>G (p.Thr2360Ala)
c.3424A>G (p.Thr1142Ala)
c.7318A>G (p.Thr2440Ala)
c.7309A>G (p.Thr2437Ala)
c.7324A>G (p.Thr2442Ala)
c.1621A>G (p.Thr541Ala)
Xg.31774055T>GCA412658909DMDc.2293A>C (p.Thr765Pro)
c.67A>C (p.Thr23Pro)
n.1108A>C
n.1030A>C
n.939A>C
c.7447A>C (p.Thr2483Pro)
c.3415A>C (p.Thr1139Pro)
c.436A>C (p.Thr146Pro)
c.535A>C (p.Thr179Pro)
c.7435A>C (p.Thr2479Pro)
c.204A>C (n.204A>C)
c.7432A>C (p.Thr2478Pro)
c.7444A>C (p.Thr2482Pro)
c.7423A>C (p.Thr2475Pro)
c.7078A>C (p.Thr2360Pro)
c.3424A>C (p.Thr1142Pro)
c.7318A>C (p.Thr2440Pro)
c.7309A>C (p.Thr2437Pro)
c.7324A>C (p.Thr2442Pro)
c.1621A>C (p.Thr541Pro)
Xg.31774056A>CCA515859341DMDc.2292T>G (p.Leu764=)
c.66T>G (p.Leu22=)
n.1107T>G
n.1029T>G
n.938T>G
c.7446T>G (p.Leu2482=)
c.3414T>G (p.Leu1138=)
c.435T>G (p.Leu145=)
c.534T>G (p.Leu178=)
c.7434T>G (p.Leu2478=)
c.203T>G (n.203T>G)
c.7431T>G (p.Leu2477=)
c.7443T>G (p.Leu2481=)
c.7422T>G (p.Leu2474=)
c.7077T>G (p.Leu2359=)
c.3423T>G (p.Leu1141=)
c.7317T>G (p.Leu2439=)
c.7308T>G (p.Leu2436=)
c.7323T>G (p.Leu2441=)
c.1620T>G (p.Leu540=)
Xg.31774056A>GCA515859343DMDc.2292T>C (p.Leu764=)
c.66T>C (p.Leu22=)
n.1107T>C
n.1029T>C
n.938T>C
c.7446T>C (p.Leu2482=)
c.3414T>C (p.Leu1138=)
c.435T>C (p.Leu145=)
c.534T>C (p.Leu178=)
c.7434T>C (p.Leu2478=)
c.203T>C (n.203T>C)
c.7431T>C (p.Leu2477=)
c.7443T>C (p.Leu2481=)
c.7422T>C (p.Leu2474=)
c.7077T>C (p.Leu2359=)
c.3423T>C (p.Leu1141=)
c.7317T>C (p.Leu2439=)
c.7308T>C (p.Leu2436=)
c.7323T>C (p.Leu2441=)
c.1620T>C (p.Leu540=)
Xg.31774056A>TCA515859342DMDc.2292T>A (p.Leu764=)
c.66T>A (p.Leu22=)
n.1107T>A
n.1029T>A
n.938T>A
c.7446T>A (p.Leu2482=)
c.3414T>A (p.Leu1138=)
c.435T>A (p.Leu145=)
c.534T>A (p.Leu178=)
c.7434T>A (p.Leu2478=)
c.203T>A (n.203T>A)
c.7431T>A (p.Leu2477=)
c.7443T>A (p.Leu2481=)
c.7422T>A (p.Leu2474=)
c.7077T>A (p.Leu2359=)
c.3423T>A (p.Leu1141=)
c.7317T>A (p.Leu2439=)
c.7308T>A (p.Leu2436=)
c.7323T>A (p.Leu2441=)
c.1620T>A (p.Leu540=)
Xg.31774057A>CCA412658912DMDc.2291T>G (p.Leu764Arg)
c.65T>G (p.Leu22Arg)
n.1106T>G
n.1028T>G
n.937T>G
c.7445T>G (p.Leu2482Arg)
c.3413T>G (p.Leu1138Arg)
c.434T>G (p.Leu145Arg)
c.533T>G (p.Leu178Arg)
c.7433T>G (p.Leu2478Arg)
c.202T>G (n.202T>G)
c.7430T>G (p.Leu2477Arg)
c.7442T>G (p.Leu2481Arg)
c.7421T>G (p.Leu2474Arg)
c.7076T>G (p.Leu2359Arg)
c.3422T>G (p.Leu1141Arg)
c.7316T>G (p.Leu2439Arg)
c.7307T>G (p.Leu2436Arg)
c.7322T>G (p.Leu2441Arg)
c.1619T>G (p.Leu540Arg)
Xg.31774057A>GCA412658913DMDc.2291T>C (p.Leu764Pro)
c.65T>C (p.Leu22Pro)
n.1106T>C
n.1028T>C
n.937T>C
c.7445T>C (p.Leu2482Pro)
c.3413T>C (p.Leu1138Pro)
c.434T>C (p.Leu145Pro)
c.533T>C (p.Leu178Pro)
c.7433T>C (p.Leu2478Pro)
c.202T>C (n.202T>C)
c.7430T>C (p.Leu2477Pro)
c.7442T>C (p.Leu2481Pro)
c.7421T>C (p.Leu2474Pro)
c.7076T>C (p.Leu2359Pro)
c.3422T>C (p.Leu1141Pro)
c.7316T>C (p.Leu2439Pro)
c.7307T>C (p.Leu2436Pro)
c.7322T>C (p.Leu2441Pro)
c.1619T>C (p.Leu540Pro)
Xg.31774057A>TCA412658914DMDc.2291T>A (p.Leu764His)
c.65T>A (p.Leu22His)
n.1106T>A
n.1028T>A
n.937T>A
c.7445T>A (p.Leu2482His)
c.3413T>A (p.Leu1138His)
c.434T>A (p.Leu145His)
c.533T>A (p.Leu178His)
c.7433T>A (p.Leu2478His)
c.202T>A (n.202T>A)
c.7430T>A (p.Leu2477His)
c.7442T>A (p.Leu2481His)
c.7421T>A (p.Leu2474His)
c.7076T>A (p.Leu2359His)
c.3422T>A (p.Leu1141His)
c.7316T>A (p.Leu2439His)
c.7307T>A (p.Leu2436His)
c.7322T>A (p.Leu2441His)
c.1619T>A (p.Leu540His)
Xg.31774057_31774058delinsAGCA2422548641DMDc.2290_2291delinsCT (p.Leu764=)
c.64_65delinsCT (p.Leu22=)
n.1105_1106delinsCT
n.1027_1028delinsCT
n.936_937delinsCT
c.7444_7445delinsCT (p.Leu2482=)
c.3412_3413delinsCT (p.Leu1138=)
c.433_434delinsCT (p.Leu145=)
c.532_533delinsCT (p.Leu178=)
c.7432_7433delinsCT (p.Leu2478=)
c.201_202delinsCT (n.201_202delinsCT)
c.7429_7430delinsCT (p.Leu2477=)
c.7441_7442delinsCT (p.Leu2481=)
c.7420_7421delinsCT (p.Leu2474=)
c.7075_7076delinsCT (p.Leu2359=)
c.3421_3422delinsCT (p.Leu1141=)
c.7315_7316delinsCT (p.Leu2439=)
c.7306_7307delinsCT (p.Leu2436=)
c.7321_7322delinsCT (p.Leu2441=)
c.1618_1619delinsCT (p.Leu540=)
Xg.31774058delCA275314DMDc.2290del (p.Thr765ProfsTer11)
c.64del (p.Thr23ProfsTer11)
n.1105del
n.1027del
n.936del
c.7444del (p.Thr2483ProfsTer11)
c.3412del (p.Thr1139ProfsTer11)
c.433del (p.Thr146ProfsTer11)
c.532del (p.Thr179ProfsTer11)
c.7432del (p.Thr2479ProfsTer11)
c.201del (n.201del)
c.7429del (p.Thr2478ProfsTer11)
c.7441del (p.Thr2482ProfsTer11)
c.7420del (p.Thr2475ProfsTer11)
c.7075del (p.Thr2360ProfsTer11)
c.3421del (p.Thr1142ProfsTer11)
c.7315del (p.Thr2440ProfsTer11)
c.7306del (p.Thr2437ProfsTer11)
c.7321del (p.Thr2442ProfsTer11)
c.1618del (p.Thr541ProfsTer11)
 ClinVar dbSNP
Xg.31774058G>ACA412658915DMDc.2290C>T (p.Leu764Phe)
c.64C>T (p.Leu22Phe)
n.1105C>T
n.1027C>T
n.936C>T
c.7444C>T (p.Leu2482Phe)
c.3412C>T (p.Leu1138Phe)
c.433C>T (p.Leu145Phe)
c.532C>T (p.Leu178Phe)
c.7432C>T (p.Leu2478Phe)
c.201C>T (n.201C>T)
c.7429C>T (p.Leu2477Phe)
c.7441C>T (p.Leu2481Phe)
c.7420C>T (p.Leu2474Phe)
c.7075C>T (p.Leu2359Phe)
c.3421C>T (p.Leu1141Phe)
c.7315C>T (p.Leu2439Phe)
c.7306C>T (p.Leu2436Phe)
c.7321C>T (p.Leu2441Phe)
c.1618C>T (p.Leu540Phe)
Xg.31774058G>CCA412658916DMDc.2290C>G (p.Leu764Val)
c.64C>G (p.Leu22Val)
n.1105C>G
n.1027C>G
n.936C>G
c.7444C>G (p.Leu2482Val)
c.3412C>G (p.Leu1138Val)
c.433C>G (p.Leu145Val)
c.532C>G (p.Leu178Val)
c.7432C>G (p.Leu2478Val)
c.201C>G (n.201C>G)
c.7429C>G (p.Leu2477Val)
c.7441C>G (p.Leu2481Val)
c.7420C>G (p.Leu2474Val)
c.7075C>G (p.Leu2359Val)
c.3421C>G (p.Leu1141Val)
c.7315C>G (p.Leu2439Val)
c.7306C>G (p.Leu2436Val)
c.7321C>G (p.Leu2441Val)
c.1618C>G (p.Leu540Val)
Xg.31774058G>TCA412658917DMDc.2290C>A (p.Leu764Ile)
c.64C>A (p.Leu22Ile)
n.1105C>A
n.1027C>A
n.936C>A
c.7444C>A (p.Leu2482Ile)
c.3412C>A (p.Leu1138Ile)
c.433C>A (p.Leu145Ile)
c.532C>A (p.Leu178Ile)
c.7432C>A (p.Leu2478Ile)
c.201C>A (n.201C>A)
c.7429C>A (p.Leu2477Ile)
c.7441C>A (p.Leu2481Ile)
c.7420C>A (p.Leu2474Ile)
c.7075C>A (p.Leu2359Ile)
c.3421C>A (p.Leu1141Ile)
c.7315C>A (p.Leu2439Ile)
c.7306C>A (p.Leu2436Ile)
c.7321C>A (p.Leu2441Ile)
c.1618C>A (p.Leu540Ile)
Xg.31774059T>ACA412658918DMDc.2289A>T (p.Glu763Asp)
c.63A>T (p.Glu21Asp)
n.1104A>T
n.1026A>T
n.935A>T
c.7443A>T (p.Glu2481Asp)
c.3411A>T (p.Glu1137Asp)
c.432A>T (p.Glu144Asp)
c.531A>T (p.Glu177Asp)
c.7431A>T (p.Glu2477Asp)
c.200A>T (n.200A>T)
c.7428A>T (p.Glu2476Asp)
c.7440A>T (p.Glu2480Asp)
c.7419A>T (p.Glu2473Asp)
c.7074A>T (p.Glu2358Asp)
c.3420A>T (p.Glu1140Asp)
c.7314A>T (p.Glu2438Asp)
c.7305A>T (p.Glu2435Asp)
c.7320A>T (p.Glu2440Asp)
c.1617A>T (p.Glu539Asp)
Xg.31774059T>CCA515859344DMDc.2289A>G (p.Glu763=)
c.63A>G (p.Glu21=)
n.1104A>G
n.1026A>G
n.935A>G
c.7443A>G (p.Glu2481=)
c.3411A>G (p.Glu1137=)
c.432A>G (p.Glu144=)
c.531A>G (p.Glu177=)
c.7431A>G (p.Glu2477=)
c.200A>G (n.200A>G)
c.7428A>G (p.Glu2476=)
c.7440A>G (p.Glu2480=)
c.7419A>G (p.Glu2473=)
c.7074A>G (p.Glu2358=)
c.3420A>G (p.Glu1140=)
c.7314A>G (p.Glu2438=)
c.7305A>G (p.Glu2435=)
c.7320A>G (p.Glu2440=)
c.1617A>G (p.Glu539=)
 ClinVar
Xg.31774059T>GCA412658919DMDc.2289A>C (p.Glu763Asp)
c.63A>C (p.Glu21Asp)
n.1104A>C
n.1026A>C
n.935A>C
c.7443A>C (p.Glu2481Asp)
c.3411A>C (p.Glu1137Asp)
c.432A>C (p.Glu144Asp)
c.531A>C (p.Glu177Asp)
c.7431A>C (p.Glu2477Asp)
c.200A>C (n.200A>C)
c.7428A>C (p.Glu2476Asp)
c.7440A>C (p.Glu2480Asp)
c.7419A>C (p.Glu2473Asp)
c.7074A>C (p.Glu2358Asp)
c.3420A>C (p.Glu1140Asp)
c.7314A>C (p.Glu2438Asp)
c.7305A>C (p.Glu2435Asp)
c.7320A>C (p.Glu2440Asp)
c.1617A>C (p.Glu539Asp)
Xg.31774060T>ACA412658920DMDc.2288A>T (p.Glu763Val)
c.62A>T (p.Glu21Val)
n.1103A>T
n.1025A>T
n.934A>T
c.7442A>T (p.Glu2481Val)
c.3410A>T (p.Glu1137Val)
c.431A>T (p.Glu144Val)
c.530A>T (p.Glu177Val)
c.7430A>T (p.Glu2477Val)
c.199A>T (n.199A>T)
c.7427A>T (p.Glu2476Val)
c.7439A>T (p.Glu2480Val)
c.7418A>T (p.Glu2473Val)
c.7073A>T (p.Glu2358Val)
c.3419A>T (p.Glu1140Val)
c.7313A>T (p.Glu2438Val)
c.7304A>T (p.Glu2435Val)
c.7319A>T (p.Glu2440Val)
c.1616A>T (p.Glu539Val)
Xg.31774060T>CCA10378277DMDc.2288A>G (p.Glu763Gly)
c.62A>G (p.Glu21Gly)
n.1103A>G
n.1025A>G
n.934A>G
c.7442A>G (p.Glu2481Gly)
c.3410A>G (p.Glu1137Gly)
c.431A>G (p.Glu144Gly)
c.530A>G (p.Glu177Gly)
c.7430A>G (p.Glu2477Gly)
c.199A>G (n.199A>G)
c.7427A>G (p.Glu2476Gly)
c.7439A>G (p.Glu2480Gly)
c.7418A>G (p.Glu2473Gly)
c.7073A>G (p.Glu2358Gly)
c.3419A>G (p.Glu1140Gly)
c.7313A>G (p.Glu2438Gly)
c.7304A>G (p.Glu2435Gly)
c.7319A>G (p.Glu2440Gly)
c.1616A>G (p.Glu539Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774060T>GCA412658921DMDc.2288A>C (p.Glu763Ala)
c.62A>C (p.Glu21Ala)
n.1103A>C
n.1025A>C
n.934A>C
c.7442A>C (p.Glu2481Ala)
c.3410A>C (p.Glu1137Ala)
c.431A>C (p.Glu144Ala)
c.530A>C (p.Glu177Ala)
c.7430A>C (p.Glu2477Ala)
c.199A>C (n.199A>C)
c.7427A>C (p.Glu2476Ala)
c.7439A>C (p.Glu2480Ala)
c.7418A>C (p.Glu2473Ala)
c.7073A>C (p.Glu2358Ala)
c.3419A>C (p.Glu1140Ala)
c.7313A>C (p.Glu2438Ala)
c.7304A>C (p.Glu2435Ala)
c.7319A>C (p.Glu2440Ala)
c.1616A>C (p.Glu539Ala)
Xg.31774060T=CA2422548642DMDc.2288A= (p.Glu763=)
c.62A= (p.Glu21=)
n.1103A=
n.1025A=
n.934A=
c.7442A= (p.Glu2481=)
c.3410A= (p.Glu1137=)
c.431A= (p.Glu144=)
c.530A= (p.Glu177=)
c.7430A= (p.Glu2477=)
c.199A= (n.199A=)
c.7427A= (p.Glu2476=)
c.7439A= (p.Glu2480=)
c.7418A= (p.Glu2473=)
c.7073A= (p.Glu2358=)
c.3419A= (p.Glu1140=)
c.7313A= (p.Glu2438=)
c.7304A= (p.Glu2435=)
c.7319A= (p.Glu2440=)
c.1616A= (p.Glu539=)
Xg.31774061delCA2695232444DMDc.2287del (p.Glu763AsnfsTer13)
c.61del (p.Glu21AsnfsTer13)
n.1102del
n.1024del
n.933del
c.7441del (p.Glu2481AsnfsTer13)
c.3409del (p.Glu1137AsnfsTer13)
c.430del (p.Glu144AsnfsTer13)
c.529del (p.Glu177AsnfsTer13)
c.7429del (p.Glu2477AsnfsTer13)
c.198del (n.198del)
c.7426del (p.Glu2476AsnfsTer13)
c.7438del (p.Glu2480AsnfsTer13)
c.7417del (p.Glu2473AsnfsTer13)
c.7072del (p.Glu2358AsnfsTer13)
c.3418del (p.Glu1140AsnfsTer13)
c.7312del (p.Glu2438AsnfsTer13)
c.7303del (p.Glu2435AsnfsTer13)
c.7318del (p.Glu2440AsnfsTer13)
c.1615del (p.Glu539AsnfsTer13)
Xg.31774061C>ACA412658924DMDc.2287G>T (p.Glu763Ter)
c.61G>T (p.Glu21Ter)
n.1102G>T
n.1024G>T
n.933G>T
c.7441G>T (p.Glu2481Ter)
c.3409G>T (p.Glu1137Ter)
c.430G>T (p.Glu144Ter)
c.529G>T (p.Glu177Ter)
c.7429G>T (p.Glu2477Ter)
c.198G>T (n.198G>T)
c.7426G>T (p.Glu2476Ter)
c.7438G>T (p.Glu2480Ter)
c.7417G>T (p.Glu2473Ter)
c.7072G>T (p.Glu2358Ter)
c.3418G>T (p.Glu1140Ter)
c.7312G>T (p.Glu2438Ter)
c.7303G>T (p.Glu2435Ter)
c.7318G>T (p.Glu2440Ter)
c.1615G>T (p.Glu539Ter)
Xg.31774061C>GCA412658922DMDc.2287G>C (p.Glu763Gln)
c.61G>C (p.Glu21Gln)
n.1102G>C
n.1024G>C
n.933G>C
c.7441G>C (p.Glu2481Gln)
c.3409G>C (p.Glu1137Gln)
c.430G>C (p.Glu144Gln)
c.529G>C (p.Glu177Gln)
c.7429G>C (p.Glu2477Gln)
c.198G>C (n.198G>C)
c.7426G>C (p.Glu2476Gln)
c.7438G>C (p.Glu2480Gln)
c.7417G>C (p.Glu2473Gln)
c.7072G>C (p.Glu2358Gln)
c.3418G>C (p.Glu1140Gln)
c.7312G>C (p.Glu2438Gln)
c.7303G>C (p.Glu2435Gln)
c.7318G>C (p.Glu2440Gln)
c.1615G>C (p.Glu539Gln)
Xg.31774061C>TCA412658923DMDc.2287G>A (p.Glu763Lys)
c.61G>A (p.Glu21Lys)
n.1102G>A
n.1024G>A
n.933G>A
c.7441G>A (p.Glu2481Lys)
c.3409G>A (p.Glu1137Lys)
c.430G>A (p.Glu144Lys)
c.529G>A (p.Glu177Lys)
c.7429G>A (p.Glu2477Lys)
c.198G>A (n.198G>A)
c.7426G>A (p.Glu2476Lys)
c.7438G>A (p.Glu2480Lys)
c.7417G>A (p.Glu2473Lys)
c.7072G>A (p.Glu2358Lys)
c.3418G>A (p.Glu1140Lys)
c.7312G>A (p.Glu2438Lys)
c.7303G>A (p.Glu2435Lys)
c.7318G>A (p.Glu2440Lys)
c.1615G>A (p.Glu539Lys)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774062T>ACA515859345DMDc.2286A>T (p.Thr762=)
c.60A>T (p.Thr20=)
n.1101A>T
n.1023A>T
n.932A>T
c.7440A>T (p.Thr2480=)
c.3408A>T (p.Thr1136=)
c.429A>T (p.Thr143=)
c.528A>T (p.Thr176=)
c.7428A>T (p.Thr2476=)
c.197A>T (n.197A>T)
c.7425A>T (p.Thr2475=)
c.7437A>T (p.Thr2479=)
c.7416A>T (p.Thr2472=)
c.7071A>T (p.Thr2357=)
c.3417A>T (p.Thr1139=)
c.7311A>T (p.Thr2437=)
c.7302A>T (p.Thr2434=)
c.7317A>T (p.Thr2439=)
c.1614A>T (p.Thr538=)
Xg.31774062T>CCA515859347DMDc.2286A>G (p.Thr762=)
c.60A>G (p.Thr20=)
n.1101A>G
n.1023A>G
n.932A>G
c.7440A>G (p.Thr2480=)
c.3408A>G (p.Thr1136=)
c.429A>G (p.Thr143=)
c.528A>G (p.Thr176=)
c.7428A>G (p.Thr2476=)
c.197A>G (n.197A>G)
c.7425A>G (p.Thr2475=)
c.7437A>G (p.Thr2479=)
c.7416A>G (p.Thr2472=)
c.7071A>G (p.Thr2357=)
c.3417A>G (p.Thr1139=)
c.7311A>G (p.Thr2437=)
c.7302A>G (p.Thr2434=)
c.7317A>G (p.Thr2439=)
c.1614A>G (p.Thr538=)
 ClinVar dbSNP gnomAD v4
Xg.31774062T>GCA515859346DMDc.2286A>C (p.Thr762=)
c.60A>C (p.Thr20=)
n.1101A>C
n.1023A>C
n.932A>C
c.7440A>C (p.Thr2480=)
c.3408A>C (p.Thr1136=)
c.429A>C (p.Thr143=)
c.528A>C (p.Thr176=)
c.7428A>C (p.Thr2476=)
c.197A>C (n.197A>C)
c.7425A>C (p.Thr2475=)
c.7437A>C (p.Thr2479=)
c.7416A>C (p.Thr2472=)
c.7071A>C (p.Thr2357=)
c.3417A>C (p.Thr1139=)
c.7311A>C (p.Thr2437=)
c.7302A>C (p.Thr2434=)
c.7317A>C (p.Thr2439=)
c.1614A>C (p.Thr538=)
Xg.31774063G>ACA412658925DMDc.2285C>T (p.Thr762Ile)
c.59C>T (p.Thr20Ile)
n.1100C>T
n.1022C>T
n.931C>T
c.7439C>T (p.Thr2480Ile)
c.3407C>T (p.Thr1136Ile)
c.428C>T (p.Thr143Ile)
c.527C>T (p.Thr176Ile)
c.7427C>T (p.Thr2476Ile)
c.196C>T (n.196C>T)
c.7424C>T (p.Thr2475Ile)
c.7436C>T (p.Thr2479Ile)
c.7415C>T (p.Thr2472Ile)
c.7070C>T (p.Thr2357Ile)
c.3416C>T (p.Thr1139Ile)
c.7310C>T (p.Thr2437Ile)
c.7301C>T (p.Thr2434Ile)
c.7316C>T (p.Thr2439Ile)
c.1613C>T (p.Thr538Ile)
Xg.31774063G>CCA412658926DMDc.2285C>G (p.Thr762Arg)
c.59C>G (p.Thr20Arg)
n.1100C>G
n.1022C>G
n.931C>G
c.7439C>G (p.Thr2480Arg)
c.3407C>G (p.Thr1136Arg)
c.428C>G (p.Thr143Arg)
c.527C>G (p.Thr176Arg)
c.7427C>G (p.Thr2476Arg)
c.196C>G (n.196C>G)
c.7424C>G (p.Thr2475Arg)
c.7436C>G (p.Thr2479Arg)
c.7415C>G (p.Thr2472Arg)
c.7070C>G (p.Thr2357Arg)
c.3416C>G (p.Thr1139Arg)
c.7310C>G (p.Thr2437Arg)
c.7301C>G (p.Thr2434Arg)
c.7316C>G (p.Thr2439Arg)
c.1613C>G (p.Thr538Arg)
Xg.31774063G>TCA412658927DMDc.2285C>A (p.Thr762Lys)
c.59C>A (p.Thr20Lys)
n.1100C>A
n.1022C>A
n.931C>A
c.7439C>A (p.Thr2480Lys)
c.3407C>A (p.Thr1136Lys)
c.428C>A (p.Thr143Lys)
c.527C>A (p.Thr176Lys)
c.7427C>A (p.Thr2476Lys)
c.196C>A (n.196C>A)
c.7424C>A (p.Thr2475Lys)
c.7436C>A (p.Thr2479Lys)
c.7415C>A (p.Thr2472Lys)
c.7070C>A (p.Thr2357Lys)
c.3416C>A (p.Thr1139Lys)
c.7310C>A (p.Thr2437Lys)
c.7301C>A (p.Thr2434Lys)
c.7316C>A (p.Thr2439Lys)
c.1613C>A (p.Thr538Lys)
Xg.31774064T>ACA412658928DMDc.2284A>T (p.Thr762Ser)
c.58A>T (p.Thr20Ser)
n.1099A>T
n.1021A>T
n.930A>T
c.7438A>T (p.Thr2480Ser)
c.3406A>T (p.Thr1136Ser)
c.427A>T (p.Thr143Ser)
c.526A>T (p.Thr176Ser)
c.7426A>T (p.Thr2476Ser)
c.195A>T (n.195A>T)
c.7423A>T (p.Thr2475Ser)
c.7435A>T (p.Thr2479Ser)
c.7414A>T (p.Thr2472Ser)
c.7069A>T (p.Thr2357Ser)
c.3415A>T (p.Thr1139Ser)
c.7309A>T (p.Thr2437Ser)
c.7300A>T (p.Thr2434Ser)
c.7315A>T (p.Thr2439Ser)
c.1612A>T (p.Thr538Ser)
Xg.31774064T>CCA412658929DMDc.2284A>G (p.Thr762Ala)
c.58A>G (p.Thr20Ala)
n.1099A>G
n.1021A>G
n.930A>G
c.7438A>G (p.Thr2480Ala)
c.3406A>G (p.Thr1136Ala)
c.427A>G (p.Thr143Ala)
c.526A>G (p.Thr176Ala)
c.7426A>G (p.Thr2476Ala)
c.195A>G (n.195A>G)
c.7423A>G (p.Thr2475Ala)
c.7435A>G (p.Thr2479Ala)
c.7414A>G (p.Thr2472Ala)
c.7069A>G (p.Thr2357Ala)
c.3415A>G (p.Thr1139Ala)
c.7309A>G (p.Thr2437Ala)
c.7300A>G (p.Thr2434Ala)
c.7315A>G (p.Thr2439Ala)
c.1612A>G (p.Thr538Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774064T>GCA412658930DMDc.2284A>C (p.Thr762Pro)
c.58A>C (p.Thr20Pro)
n.1099A>C
n.1021A>C
n.930A>C
c.7438A>C (p.Thr2480Pro)
c.3406A>C (p.Thr1136Pro)
c.427A>C (p.Thr143Pro)
c.526A>C (p.Thr176Pro)
c.7426A>C (p.Thr2476Pro)
c.195A>C (n.195A>C)
c.7423A>C (p.Thr2475Pro)
c.7435A>C (p.Thr2479Pro)
c.7414A>C (p.Thr2472Pro)
c.7069A>C (p.Thr2357Pro)
c.3415A>C (p.Thr1139Pro)
c.7309A>C (p.Thr2437Pro)
c.7300A>C (p.Thr2434Pro)
c.7315A>C (p.Thr2439Pro)
c.1612A>C (p.Thr538Pro)
Xg.31774064T=CA2422548643DMDc.2284A= (p.Thr762=)
c.58A= (p.Thr20=)
n.1099A=
n.1021A=
n.930A=
c.7438A= (p.Thr2480=)
c.3406A= (p.Thr1136=)
c.427A= (p.Thr143=)
c.526A= (p.Thr176=)
c.7426A= (p.Thr2476=)
c.195A= (n.195A=)
c.7423A= (p.Thr2475=)
c.7435A= (p.Thr2479=)
c.7414A= (p.Thr2472=)
c.7069A= (p.Thr2357=)
c.3415A= (p.Thr1139=)
c.7309A= (p.Thr2437=)
c.7300A= (p.Thr2434=)
c.7315A= (p.Thr2439=)
c.1612A= (p.Thr538=)
Xg.31774065C>ACA412658931DMDc.2283G>T (p.Trp761Cys)
c.57G>T (p.Trp19Cys)
n.1098G>T
n.1020G>T
n.929G>T
c.7437G>T (p.Trp2479Cys)
c.3405G>T (p.Trp1135Cys)
c.426G>T (p.Trp142Cys)
c.525G>T (p.Trp175Cys)
c.7425G>T (p.Trp2475Cys)
c.194G>T (n.194G>T)
c.7422G>T (p.Trp2474Cys)
c.7434G>T (p.Trp2478Cys)
c.7413G>T (p.Trp2471Cys)
c.7068G>T (p.Trp2356Cys)
c.3414G>T (p.Trp1138Cys)
c.7308G>T (p.Trp2436Cys)
c.7299G>T (p.Trp2433Cys)
c.7314G>T (p.Trp2438Cys)
c.1611G>T (p.Trp537Cys)
Xg.31774065C>GCA412658932DMDc.2283G>C (p.Trp761Cys)
c.57G>C (p.Trp19Cys)
n.1098G>C
n.1020G>C
n.929G>C
c.7437G>C (p.Trp2479Cys)
c.3405G>C (p.Trp1135Cys)
c.426G>C (p.Trp142Cys)
c.525G>C (p.Trp175Cys)
c.7425G>C (p.Trp2475Cys)
c.194G>C (n.194G>C)
c.7422G>C (p.Trp2474Cys)
c.7434G>C (p.Trp2478Cys)
c.7413G>C (p.Trp2471Cys)
c.7068G>C (p.Trp2356Cys)
c.3414G>C (p.Trp1138Cys)
c.7308G>C (p.Trp2436Cys)
c.7299G>C (p.Trp2433Cys)
c.7314G>C (p.Trp2438Cys)
c.1611G>C (p.Trp537Cys)
Xg.31774065C>TCA412658933DMDc.2283G>A (p.Trp761Ter)
c.57G>A (p.Trp19Ter)
n.1098G>A
n.1020G>A
n.929G>A
c.7437G>A (p.Trp2479Ter)
c.3405G>A (p.Trp1135Ter)
c.426G>A (p.Trp142Ter)
c.525G>A (p.Trp175Ter)
c.7425G>A (p.Trp2475Ter)
c.194G>A (n.194G>A)
c.7422G>A (p.Trp2474Ter)
c.7434G>A (p.Trp2478Ter)
c.7413G>A (p.Trp2471Ter)
c.7068G>A (p.Trp2356Ter)
c.3414G>A (p.Trp1138Ter)
c.7308G>A (p.Trp2436Ter)
c.7299G>A (p.Trp2433Ter)
c.7314G>A (p.Trp2438Ter)
c.1611G>A (p.Trp537Ter)
 ClinVar dbSNP
Xg.31774066C>ACA412658934DMDc.2282G>T (p.Trp761Leu)
c.56G>T (p.Trp19Leu)
n.1097G>T
n.1019G>T
n.928G>T
c.7436G>T (p.Trp2479Leu)
c.3404G>T (p.Trp1135Leu)
c.425G>T (p.Trp142Leu)
c.524G>T (p.Trp175Leu)
c.7424G>T (p.Trp2475Leu)
c.193G>T (n.193G>T)
c.7421G>T (p.Trp2474Leu)
c.7433G>T (p.Trp2478Leu)
c.7412G>T (p.Trp2471Leu)
c.7067G>T (p.Trp2356Leu)
c.3413G>T (p.Trp1138Leu)
c.7307G>T (p.Trp2436Leu)
c.7298G>T (p.Trp2433Leu)
c.7313G>T (p.Trp2438Leu)
c.1610G>T (p.Trp537Leu)
Xg.31774066C>GCA412658935DMDc.2282G>C (p.Trp761Ser)
c.56G>C (p.Trp19Ser)
n.1097G>C
n.1019G>C
n.928G>C
c.7436G>C (p.Trp2479Ser)
c.3404G>C (p.Trp1135Ser)
c.425G>C (p.Trp142Ser)
c.524G>C (p.Trp175Ser)
c.7424G>C (p.Trp2475Ser)
c.193G>C (n.193G>C)
c.7421G>C (p.Trp2474Ser)
c.7433G>C (p.Trp2478Ser)
c.7412G>C (p.Trp2471Ser)
c.7067G>C (p.Trp2356Ser)
c.3413G>C (p.Trp1138Ser)
c.7307G>C (p.Trp2436Ser)
c.7298G>C (p.Trp2433Ser)
c.7313G>C (p.Trp2438Ser)
c.1610G>C (p.Trp537Ser)
Xg.31774066C>TCA412658936DMDc.2282G>A (p.Trp761Ter)
c.56G>A (p.Trp19Ter)
n.1097G>A
n.1019G>A
n.928G>A
c.7436G>A (p.Trp2479Ter)
c.3404G>A (p.Trp1135Ter)
c.425G>A (p.Trp142Ter)
c.524G>A (p.Trp175Ter)
c.7424G>A (p.Trp2475Ter)
c.193G>A (n.193G>A)
c.7421G>A (p.Trp2474Ter)
c.7433G>A (p.Trp2478Ter)
c.7412G>A (p.Trp2471Ter)
c.7067G>A (p.Trp2356Ter)
c.3413G>A (p.Trp1138Ter)
c.7307G>A (p.Trp2436Ter)
c.7298G>A (p.Trp2433Ter)
c.7313G>A (p.Trp2438Ter)
c.1610G>A (p.Trp537Ter)
Xg.31774067A=CA2422548644DMDc.2281T= (p.Trp761=)
c.55T= (p.Trp19=)
n.1096T=
n.1018T=
n.927T=
c.7435T= (p.Trp2479=)
c.3403T= (p.Trp1135=)
c.424T= (p.Trp142=)
c.523T= (p.Trp175=)
c.7423T= (p.Trp2475=)
c.192T= (n.192T=)
c.7420T= (p.Trp2474=)
c.7432T= (p.Trp2478=)
c.7411T= (p.Trp2471=)
c.7066T= (p.Trp2356=)
c.3412T= (p.Trp1138=)
c.7306T= (p.Trp2436=)
c.7297T= (p.Trp2433=)
c.7312T= (p.Trp2438=)
c.1609T= (p.Trp537=)
Xg.31774067A>CCA412658939DMDc.2281T>G (p.Trp761Gly)
c.55T>G (p.Trp19Gly)
n.1096T>G
n.1018T>G
n.927T>G
c.7435T>G (p.Trp2479Gly)
c.3403T>G (p.Trp1135Gly)
c.424T>G (p.Trp142Gly)
c.523T>G (p.Trp175Gly)
c.7423T>G (p.Trp2475Gly)
c.192T>G (n.192T>G)
c.7420T>G (p.Trp2474Gly)
c.7432T>G (p.Trp2478Gly)
c.7411T>G (p.Trp2471Gly)
c.7066T>G (p.Trp2356Gly)
c.3412T>G (p.Trp1138Gly)
c.7306T>G (p.Trp2436Gly)
c.7297T>G (p.Trp2433Gly)
c.7312T>G (p.Trp2438Gly)
c.1609T>G (p.Trp537Gly)
Xg.31774067A>GCA412658938DMDc.2281T>C (p.Trp761Arg)
c.55T>C (p.Trp19Arg)
n.1096T>C
n.1018T>C
n.927T>C
c.7435T>C (p.Trp2479Arg)
c.3403T>C (p.Trp1135Arg)
c.424T>C (p.Trp142Arg)
c.523T>C (p.Trp175Arg)
c.7423T>C (p.Trp2475Arg)
c.192T>C (n.192T>C)
c.7420T>C (p.Trp2474Arg)
c.7432T>C (p.Trp2478Arg)
c.7411T>C (p.Trp2471Arg)
c.7066T>C (p.Trp2356Arg)
c.3412T>C (p.Trp1138Arg)
c.7306T>C (p.Trp2436Arg)
c.7297T>C (p.Trp2433Arg)
c.7312T>C (p.Trp2438Arg)
c.1609T>C (p.Trp537Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774067A>TCA412658937DMDc.2281T>A (p.Trp761Arg)
c.55T>A (p.Trp19Arg)
n.1096T>A
n.1018T>A
n.927T>A
c.7435T>A (p.Trp2479Arg)
c.3403T>A (p.Trp1135Arg)
c.424T>A (p.Trp142Arg)
c.523T>A (p.Trp175Arg)
c.7423T>A (p.Trp2475Arg)
c.192T>A (n.192T>A)
c.7420T>A (p.Trp2474Arg)
c.7432T>A (p.Trp2478Arg)
c.7411T>A (p.Trp2471Arg)
c.7066T>A (p.Trp2356Arg)
c.3412T>A (p.Trp1138Arg)
c.7306T>A (p.Trp2436Arg)
c.7297T>A (p.Trp2433Arg)
c.7312T>A (p.Trp2438Arg)
c.1609T>A (p.Trp537Arg)
Xg.31774068A>CCA515859348DMDc.2280T>G (p.Ala760=)
c.54T>G (p.Ala18=)
n.1095T>G
n.1017T>G
n.926T>G
c.7434T>G (p.Ala2478=)
c.3402T>G (p.Ala1134=)
c.423T>G (p.Ala141=)
c.522T>G (p.Ala174=)
c.7422T>G (p.Ala2474=)
c.191T>G (n.191T>G)
c.7419T>G (p.Ala2473=)
c.7431T>G (p.Ala2477=)
c.7410T>G (p.Ala2470=)
c.7065T>G (p.Ala2355=)
c.3411T>G (p.Ala1137=)
c.7305T>G (p.Ala2435=)
c.7296T>G (p.Ala2432=)
c.7311T>G (p.Ala2437=)
c.1608T>G (p.Ala536=)
Xg.31774068A>GCA515859349DMDc.2280T>C (p.Ala760=)
c.54T>C (p.Ala18=)
n.1095T>C
n.1017T>C
n.926T>C
c.7434T>C (p.Ala2478=)
c.3402T>C (p.Ala1134=)
c.423T>C (p.Ala141=)
c.522T>C (p.Ala174=)
c.7422T>C (p.Ala2474=)
c.191T>C (n.191T>C)
c.7419T>C (p.Ala2473=)
c.7431T>C (p.Ala2477=)
c.7410T>C (p.Ala2470=)
c.7065T>C (p.Ala2355=)
c.3411T>C (p.Ala1137=)
c.7305T>C (p.Ala2435=)
c.7296T>C (p.Ala2432=)
c.7311T>C (p.Ala2437=)
c.1608T>C (p.Ala536=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774068A>TCA515859350DMDc.2280T>A (p.Ala760=)
c.54T>A (p.Ala18=)
n.1095T>A
n.1017T>A
n.926T>A
c.7434T>A (p.Ala2478=)
c.3402T>A (p.Ala1134=)
c.423T>A (p.Ala141=)
c.522T>A (p.Ala174=)
c.7422T>A (p.Ala2474=)
c.191T>A (n.191T>A)
c.7419T>A (p.Ala2473=)
c.7431T>A (p.Ala2477=)
c.7410T>A (p.Ala2470=)
c.7065T>A (p.Ala2355=)
c.3411T>A (p.Ala1137=)
c.7305T>A (p.Ala2435=)
c.7296T>A (p.Ala2432=)
c.7311T>A (p.Ala2437=)
c.1608T>A (p.Ala536=)
Xg.31774068_31774071delinsTGCA2695232446DMDc.2277_2280delinsCA (p.Ala760MetfsTer12)
c.51_54delinsCA (p.Ala18MetfsTer12)
n.1092_1095delinsCA
n.1014_1017delinsCA
n.923_926delinsCA
c.7431_7434delinsCA (p.Ala2478MetfsTer12)
c.3399_3402delinsCA (p.Ala1134MetfsTer12)
c.420_423delinsCA (p.Ala141MetfsTer12)
c.519_522delinsCA (p.Ala174MetfsTer12)
c.7419_7422delinsCA (p.Ala2474MetfsTer12)
c.188_191delinsCA (n.188_191delinsCA)
c.7416_7419delinsCA (p.Ala2473MetfsTer12)
c.7428_7431delinsCA (p.Ala2477MetfsTer12)
c.7407_7410delinsCA (p.Ala2470MetfsTer12)
c.7062_7065delinsCA (p.Ala2355MetfsTer12)
c.3408_3411delinsCA (p.Ala1137MetfsTer12)
c.7302_7305delinsCA (p.Ala2435MetfsTer12)
c.7293_7296delinsCA (p.Ala2432MetfsTer12)
c.7308_7311delinsCA (p.Ala2437MetfsTer12)
c.1605_1608delinsCA (p.Ala536MetfsTer12)
Xg.31774069G>ACA328470493DMDc.2279C>T (p.Ala760Val)
c.53C>T (p.Ala18Val)
n.1094C>T
n.1016C>T
n.925C>T
c.7433C>T (p.Ala2478Val)
c.3401C>T (p.Ala1134Val)
c.422C>T (p.Ala141Val)
c.521C>T (p.Ala174Val)
c.7421C>T (p.Ala2474Val)
c.190C>T (n.190C>T)
c.7418C>T (p.Ala2473Val)
c.7430C>T (p.Ala2477Val)
c.7409C>T (p.Ala2470Val)
c.7064C>T (p.Ala2355Val)
c.3410C>T (p.Ala1137Val)
c.7304C>T (p.Ala2435Val)
c.7295C>T (p.Ala2432Val)
c.7310C>T (p.Ala2437Val)
c.1607C>T (p.Ala536Val)
 dbSNP gnomAD v4
Xg.31774069G>CCA412658940DMDc.2279C>G (p.Ala760Gly)
c.53C>G (p.Ala18Gly)
n.1094C>G
n.1016C>G
n.925C>G
c.7433C>G (p.Ala2478Gly)
c.3401C>G (p.Ala1134Gly)
c.422C>G (p.Ala141Gly)
c.521C>G (p.Ala174Gly)
c.7421C>G (p.Ala2474Gly)
c.190C>G (n.190C>G)
c.7418C>G (p.Ala2473Gly)
c.7430C>G (p.Ala2477Gly)
c.7409C>G (p.Ala2470Gly)
c.7064C>G (p.Ala2355Gly)
c.3410C>G (p.Ala1137Gly)
c.7304C>G (p.Ala2435Gly)
c.7295C>G (p.Ala2432Gly)
c.7310C>G (p.Ala2437Gly)
c.1607C>G (p.Ala536Gly)
Xg.31774069G=CA2422548645DMDc.2279C= (p.Ala760=)
c.53C= (p.Ala18=)
n.1094C=
n.1016C=
n.925C=
c.7433C= (p.Ala2478=)
c.3401C= (p.Ala1134=)
c.422C= (p.Ala141=)
c.521C= (p.Ala174=)
c.7421C= (p.Ala2474=)
c.190C= (n.190C=)
c.7418C= (p.Ala2473=)
c.7430C= (p.Ala2477=)
c.7409C= (p.Ala2470=)
c.7064C= (p.Ala2355=)
c.3410C= (p.Ala1137=)
c.7304C= (p.Ala2435=)
c.7295C= (p.Ala2432=)
c.7310C= (p.Ala2437=)
c.1607C= (p.Ala536=)
Xg.31774069G>TCA412658941DMDc.2279C>A (p.Ala760Asp)
c.53C>A (p.Ala18Asp)
n.1094C>A
n.1016C>A
n.925C>A
c.7433C>A (p.Ala2478Asp)
c.3401C>A (p.Ala1134Asp)
c.422C>A (p.Ala141Asp)
c.521C>A (p.Ala174Asp)
c.7421C>A (p.Ala2474Asp)
c.190C>A (n.190C>A)
c.7418C>A (p.Ala2473Asp)
c.7430C>A (p.Ala2477Asp)
c.7409C>A (p.Ala2470Asp)
c.7064C>A (p.Ala2355Asp)
c.3410C>A (p.Ala1137Asp)
c.7304C>A (p.Ala2435Asp)
c.7295C>A (p.Ala2432Asp)
c.7310C>A (p.Ala2437Asp)
c.1607C>A (p.Ala536Asp)
Xg.31774070C>ACA412658942DMDc.2278G>T (p.Ala760Ser)
c.52G>T (p.Ala18Ser)
n.1093G>T
n.1015G>T
n.924G>T
c.7432G>T (p.Ala2478Ser)
c.3400G>T (p.Ala1134Ser)
c.421G>T (p.Ala141Ser)
c.520G>T (p.Ala174Ser)
c.7420G>T (p.Ala2474Ser)
c.189G>T (n.189G>T)
c.7417G>T (p.Ala2473Ser)
c.7429G>T (p.Ala2477Ser)
c.7408G>T (p.Ala2470Ser)
c.7063G>T (p.Ala2355Ser)
c.3409G>T (p.Ala1137Ser)
c.7303G>T (p.Ala2435Ser)
c.7294G>T (p.Ala2432Ser)
c.7309G>T (p.Ala2437Ser)
c.1606G>T (p.Ala536Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774070C=CA2422548646DMDc.2278G= (p.Ala760=)
c.52G= (p.Ala18=)
n.1093G=
n.1015G=
n.924G=
c.7432G= (p.Ala2478=)
c.3400G= (p.Ala1134=)
c.421G= (p.Ala141=)
c.520G= (p.Ala174=)
c.7420G= (p.Ala2474=)
c.189G= (n.189G=)
c.7417G= (p.Ala2473=)
c.7429G= (p.Ala2477=)
c.7408G= (p.Ala2470=)
c.7063G= (p.Ala2355=)
c.3409G= (p.Ala1137=)
c.7303G= (p.Ala2435=)
c.7294G= (p.Ala2432=)
c.7309G= (p.Ala2437=)
c.1606G= (p.Ala536=)
Xg.31774070C>GCA412658943DMDc.2278G>C (p.Ala760Pro)
c.52G>C (p.Ala18Pro)
n.1093G>C
n.1015G>C
n.924G>C
c.7432G>C (p.Ala2478Pro)
c.3400G>C (p.Ala1134Pro)
c.421G>C (p.Ala141Pro)
c.520G>C (p.Ala174Pro)
c.7420G>C (p.Ala2474Pro)
c.189G>C (n.189G>C)
c.7417G>C (p.Ala2473Pro)
c.7429G>C (p.Ala2477Pro)
c.7408G>C (p.Ala2470Pro)
c.7063G>C (p.Ala2355Pro)
c.3409G>C (p.Ala1137Pro)
c.7303G>C (p.Ala2435Pro)
c.7294G>C (p.Ala2432Pro)
c.7309G>C (p.Ala2437Pro)
c.1606G>C (p.Ala536Pro)
 gnomAD v4
Xg.31774070C>TCA412658944DMDc.2278G>A (p.Ala760Thr)
c.52G>A (p.Ala18Thr)
n.1093G>A
n.1015G>A
n.924G>A
c.7432G>A (p.Ala2478Thr)
c.3400G>A (p.Ala1134Thr)
c.421G>A (p.Ala141Thr)
c.520G>A (p.Ala174Thr)
c.7420G>A (p.Ala2474Thr)
c.189G>A (n.189G>A)
c.7417G>A (p.Ala2473Thr)
c.7429G>A (p.Ala2477Thr)
c.7408G>A (p.Ala2470Thr)
c.7063G>A (p.Ala2355Thr)
c.3409G>A (p.Ala1137Thr)
c.7303G>A (p.Ala2435Thr)
c.7294G>A (p.Ala2432Thr)
c.7309G>A (p.Ala2437Thr)
c.1606G>A (p.Ala536Thr)
 gnomAD v4
Xg.31774071C>ACA515859353DMDc.2277G>T (p.Arg759=)
c.51G>T (p.Arg17=)
n.1092G>T
n.1014G>T
n.923G>T
c.7431G>T (p.Arg2477=)
c.3399G>T (p.Arg1133=)
c.420G>T (p.Arg140=)
c.519G>T (p.Arg173=)
c.7419G>T (p.Arg2473=)
c.188G>T (n.188G>T)
c.7416G>T (p.Arg2472=)
c.7428G>T (p.Arg2476=)
c.7407G>T (p.Arg2469=)
c.7062G>T (p.Arg2354=)
c.3408G>T (p.Arg1136=)
c.7302G>T (p.Arg2434=)
c.7293G>T (p.Arg2431=)
c.7308G>T (p.Arg2436=)
c.1605G>T (p.Arg535=)
Xg.31774071C>GCA515859352DMDc.2277G>C (p.Arg759=)
c.51G>C (p.Arg17=)
n.1092G>C
n.1014G>C
n.923G>C
c.7431G>C (p.Arg2477=)
c.3399G>C (p.Arg1133=)
c.420G>C (p.Arg140=)
c.519G>C (p.Arg173=)
c.7419G>C (p.Arg2473=)
c.188G>C (n.188G>C)
c.7416G>C (p.Arg2472=)
c.7428G>C (p.Arg2476=)
c.7407G>C (p.Arg2469=)
c.7062G>C (p.Arg2354=)
c.3408G>C (p.Arg1136=)
c.7302G>C (p.Arg2434=)
c.7293G>C (p.Arg2431=)
c.7308G>C (p.Arg2436=)
c.1605G>C (p.Arg535=)
Xg.31774071C>TCA515859351DMDc.2277G>A (p.Arg759=)
c.51G>A (p.Arg17=)
n.1092G>A
n.1014G>A
n.923G>A
c.7431G>A (p.Arg2477=)
c.3399G>A (p.Arg1133=)
c.420G>A (p.Arg140=)
c.519G>A (p.Arg173=)
c.7419G>A (p.Arg2473=)
c.188G>A (n.188G>A)
c.7416G>A (p.Arg2472=)
c.7428G>A (p.Arg2476=)
c.7407G>A (p.Arg2469=)
c.7062G>A (p.Arg2354=)
c.3408G>A (p.Arg1136=)
c.7302G>A (p.Arg2434=)
c.7293G>A (p.Arg2431=)
c.7308G>A (p.Arg2436=)
c.1605G>A (p.Arg535=)
 ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774072C>ACA412658945DMDc.2276G>T (p.Arg759Leu)
c.50G>T (p.Arg17Leu)
n.1091G>T
n.1013G>T
n.922G>T
c.7430G>T (p.Arg2477Leu)
c.3398G>T (p.Arg1133Leu)
c.419G>T (p.Arg140Leu)
c.518G>T (p.Arg173Leu)
c.7418G>T (p.Arg2473Leu)
c.187G>T (n.187G>T)
c.7415G>T (p.Arg2472Leu)
c.7427G>T (p.Arg2476Leu)
c.7406G>T (p.Arg2469Leu)
c.7061G>T (p.Arg2354Leu)
c.3407G>T (p.Arg1136Leu)
c.7301G>T (p.Arg2434Leu)
c.7292G>T (p.Arg2431Leu)
c.7307G>T (p.Arg2436Leu)
c.1604G>T (p.Arg535Leu)
Xg.31774072C=CA2422548647DMDc.2276G= (p.Arg759=)
c.50G= (p.Arg17=)
n.1091G=
n.1013G=
n.922G=
c.7430G= (p.Arg2477=)
c.3398G= (p.Arg1133=)
c.419G= (p.Arg140=)
c.518G= (p.Arg173=)
c.7418G= (p.Arg2473=)
c.187G= (n.187G=)
c.7415G= (p.Arg2472=)
c.7427G= (p.Arg2476=)
c.7406G= (p.Arg2469=)
c.7061G= (p.Arg2354=)
c.3407G= (p.Arg1136=)
c.7301G= (p.Arg2434=)
c.7292G= (p.Arg2431=)
c.7307G= (p.Arg2436=)
c.1604G= (p.Arg535=)
Xg.31774072C>GCA412658946DMDc.2276G>C (p.Arg759Pro)
c.50G>C (p.Arg17Pro)
n.1091G>C
n.1013G>C
n.922G>C
c.7430G>C (p.Arg2477Pro)
c.3398G>C (p.Arg1133Pro)
c.419G>C (p.Arg140Pro)
c.518G>C (p.Arg173Pro)
c.7418G>C (p.Arg2473Pro)
c.187G>C (n.187G>C)
c.7415G>C (p.Arg2472Pro)
c.7427G>C (p.Arg2476Pro)
c.7406G>C (p.Arg2469Pro)
c.7061G>C (p.Arg2354Pro)
c.3407G>C (p.Arg1136Pro)
c.7301G>C (p.Arg2434Pro)
c.7292G>C (p.Arg2431Pro)
c.7307G>C (p.Arg2436Pro)
c.1604G>C (p.Arg535Pro)
Xg.31774072C>TCA10378278DMDc.2276G>A (p.Arg759Gln)
c.50G>A (p.Arg17Gln)
n.1091G>A
n.1013G>A
n.922G>A
c.7430G>A (p.Arg2477Gln)
c.3398G>A (p.Arg1133Gln)
c.419G>A (p.Arg140Gln)
c.518G>A (p.Arg173Gln)
c.7418G>A (p.Arg2473Gln)
c.187G>A (n.187G>A)
c.7415G>A (p.Arg2472Gln)
c.7427G>A (p.Arg2476Gln)
c.7406G>A (p.Arg2469Gln)
c.7061G>A (p.Arg2354Gln)
c.3407G>A (p.Arg1136Gln)
c.7301G>A (p.Arg2434Gln)
c.7292G>A (p.Arg2431Gln)
c.7307G>A (p.Arg2436Gln)
c.1604G>A (p.Arg535Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774073G>ACA10378279DMDc.2275C>T (p.Arg759Trp)
c.49C>T (p.Arg17Trp)
n.1090C>T
n.1012C>T
n.921C>T
c.7429C>T (p.Arg2477Trp)
c.3397C>T (p.Arg1133Trp)
c.418C>T (p.Arg140Trp)
c.517C>T (p.Arg173Trp)
c.7417C>T (p.Arg2473Trp)
c.186C>T (n.186C>T)
c.7414C>T (p.Arg2472Trp)
c.7426C>T (p.Arg2476Trp)
c.7405C>T (p.Arg2469Trp)
c.7060C>T (p.Arg2354Trp)
c.3406C>T (p.Arg1136Trp)
c.7300C>T (p.Arg2434Trp)
c.7291C>T (p.Arg2431Trp)
c.7306C>T (p.Arg2436Trp)
c.1603C>T (p.Arg535Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774073G>CCA412658947DMDc.2275C>G (p.Arg759Gly)
c.49C>G (p.Arg17Gly)
n.1090C>G
n.1012C>G
n.921C>G
c.7429C>G (p.Arg2477Gly)
c.3397C>G (p.Arg1133Gly)
c.418C>G (p.Arg140Gly)
c.517C>G (p.Arg173Gly)
c.7417C>G (p.Arg2473Gly)
c.186C>G (n.186C>G)
c.7414C>G (p.Arg2472Gly)
c.7426C>G (p.Arg2476Gly)
c.7405C>G (p.Arg2469Gly)
c.7060C>G (p.Arg2354Gly)
c.3406C>G (p.Arg1136Gly)
c.7300C>G (p.Arg2434Gly)
c.7291C>G (p.Arg2431Gly)
c.7306C>G (p.Arg2436Gly)
c.1603C>G (p.Arg535Gly)
Xg.31774073G=CA2422548648DMDc.2275C= (p.Arg759=)
c.49C= (p.Arg17=)
n.1090C=
n.1012C=
n.921C=
c.7429C= (p.Arg2477=)
c.3397C= (p.Arg1133=)
c.418C= (p.Arg140=)
c.517C= (p.Arg173=)
c.7417C= (p.Arg2473=)
c.186C= (n.186C=)
c.7414C= (p.Arg2472=)
c.7426C= (p.Arg2476=)
c.7405C= (p.Arg2469=)
c.7060C= (p.Arg2354=)
c.3406C= (p.Arg1136=)
c.7300C= (p.Arg2434=)
c.7291C= (p.Arg2431=)
c.7306C= (p.Arg2436=)
c.1603C= (p.Arg535=)
Xg.31774073G>TCA515859354DMDc.2275C>A (p.Arg759=)
c.49C>A (p.Arg17=)
n.1090C>A
n.1012C>A
n.921C>A
c.7429C>A (p.Arg2477=)
c.3397C>A (p.Arg1133=)
c.418C>A (p.Arg140=)
c.517C>A (p.Arg173=)
c.7417C>A (p.Arg2473=)
c.186C>A (n.186C>A)
c.7414C>A (p.Arg2472=)
c.7426C>A (p.Arg2476=)
c.7405C>A (p.Arg2469=)
c.7060C>A (p.Arg2354=)
c.3406C>A (p.Arg1136=)
c.7300C>A (p.Arg2434=)
c.7291C>A (p.Arg2431=)
c.7306C>A (p.Arg2436=)
c.1603C>A (p.Arg535=)
Xg.31774074G>ACA515859355DMDc.2274C>T (p.Asn758=)
c.48C>T (p.Asn16=)
n.1089C>T
n.1011C>T
n.920C>T
c.7428C>T (p.Asn2476=)
c.3396C>T (p.Asn1132=)
c.417C>T (p.Asn139=)
c.516C>T (p.Asn172=)
c.7416C>T (p.Asn2472=)
c.185C>T (n.185C>T)
c.7413C>T (p.Asn2471=)
c.7425C>T (p.Asn2475=)
c.7404C>T (p.Asn2468=)
c.7059C>T (p.Asn2353=)
c.3405C>T (p.Asn1135=)
c.7299C>T (p.Asn2433=)
c.7290C>T (p.Asn2430=)
c.7305C>T (p.Asn2435=)
c.1602C>T (p.Asn534=)
Xg.31774074G>CCA412658948DMDc.2274C>G (p.Asn758Lys)
c.48C>G (p.Asn16Lys)
n.1089C>G
n.1011C>G
n.920C>G
c.7428C>G (p.Asn2476Lys)
c.3396C>G (p.Asn1132Lys)
c.417C>G (p.Asn139Lys)
c.516C>G (p.Asn172Lys)
c.7416C>G (p.Asn2472Lys)
c.185C>G (n.185C>G)
c.7413C>G (p.Asn2471Lys)
c.7425C>G (p.Asn2475Lys)
c.7404C>G (p.Asn2468Lys)
c.7059C>G (p.Asn2353Lys)
c.3405C>G (p.Asn1135Lys)
c.7299C>G (p.Asn2433Lys)
c.7290C>G (p.Asn2430Lys)
c.7305C>G (p.Asn2435Lys)
c.1602C>G (p.Asn534Lys)
 gnomAD v4
Xg.31774074G>TCA412658949DMDc.2274C>A (p.Asn758Lys)
c.48C>A (p.Asn16Lys)
n.1089C>A
n.1011C>A
n.920C>A
c.7428C>A (p.Asn2476Lys)
c.3396C>A (p.Asn1132Lys)
c.417C>A (p.Asn139Lys)
c.516C>A (p.Asn172Lys)
c.7416C>A (p.Asn2472Lys)
c.185C>A (n.185C>A)
c.7413C>A (p.Asn2471Lys)
c.7425C>A (p.Asn2475Lys)
c.7404C>A (p.Asn2468Lys)
c.7059C>A (p.Asn2353Lys)
c.3405C>A (p.Asn1135Lys)
c.7299C>A (p.Asn2433Lys)
c.7290C>A (p.Asn2430Lys)
c.7305C>A (p.Asn2435Lys)
c.1602C>A (p.Asn534Lys)
Xg.31774075T>ACA412658950DMDc.2273A>T (p.Asn758Ile)
c.47A>T (p.Asn16Ile)
n.1088A>T
n.1010A>T
n.919A>T
c.7427A>T (p.Asn2476Ile)
c.3395A>T (p.Asn1132Ile)
c.416A>T (p.Asn139Ile)
c.515A>T (p.Asn172Ile)
c.7415A>T (p.Asn2472Ile)
c.184A>T (n.184A>T)
c.7412A>T (p.Asn2471Ile)
c.7424A>T (p.Asn2475Ile)
c.7403A>T (p.Asn2468Ile)
c.7058A>T (p.Asn2353Ile)
c.3404A>T (p.Asn1135Ile)
c.7298A>T (p.Asn2433Ile)
c.7289A>T (p.Asn2430Ile)
c.7304A>T (p.Asn2435Ile)
c.1601A>T (p.Asn534Ile)
Xg.31774075T>CCA10378280DMDc.2273A>G (p.Asn758Ser)
c.47A>G (p.Asn16Ser)
n.1088A>G
n.1010A>G
n.919A>G
c.7427A>G (p.Asn2476Ser)
c.3395A>G (p.Asn1132Ser)
c.416A>G (p.Asn139Ser)
c.515A>G (p.Asn172Ser)
c.7415A>G (p.Asn2472Ser)
c.184A>G (n.184A>G)
c.7412A>G (p.Asn2471Ser)
c.7424A>G (p.Asn2475Ser)
c.7403A>G (p.Asn2468Ser)
c.7058A>G (p.Asn2353Ser)
c.3404A>G (p.Asn1135Ser)
c.7298A>G (p.Asn2433Ser)
c.7289A>G (p.Asn2430Ser)
c.7304A>G (p.Asn2435Ser)
c.1601A>G (p.Asn534Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774075T>GCA412658951DMDc.2273A>C (p.Asn758Thr)
c.47A>C (p.Asn16Thr)
n.1088A>C
n.1010A>C
n.919A>C
c.7427A>C (p.Asn2476Thr)
c.3395A>C (p.Asn1132Thr)
c.416A>C (p.Asn139Thr)
c.515A>C (p.Asn172Thr)
c.7415A>C (p.Asn2472Thr)
c.184A>C (n.184A>C)
c.7412A>C (p.Asn2471Thr)
c.7424A>C (p.Asn2475Thr)
c.7403A>C (p.Asn2468Thr)
c.7058A>C (p.Asn2353Thr)
c.3404A>C (p.Asn1135Thr)
c.7298A>C (p.Asn2433Thr)
c.7289A>C (p.Asn2430Thr)
c.7304A>C (p.Asn2435Thr)
c.1601A>C (p.Asn534Thr)
Xg.31774075T=CA2422548649DMDc.2273A= (p.Asn758=)
c.47A= (p.Asn16=)
n.1088A=
n.1010A=
n.919A=
c.7427A= (p.Asn2476=)
c.3395A= (p.Asn1132=)
c.416A= (p.Asn139=)
c.515A= (p.Asn172=)
c.7415A= (p.Asn2472=)
c.184A= (n.184A=)
c.7412A= (p.Asn2471=)
c.7424A= (p.Asn2475=)
c.7403A= (p.Asn2468=)
c.7058A= (p.Asn2353=)
c.3404A= (p.Asn1135=)
c.7298A= (p.Asn2433=)
c.7289A= (p.Asn2430=)
c.7304A= (p.Asn2435=)
c.1601A= (p.Asn534=)
Xg.31774076delCA2580100605DMDc.2273del (p.Asn758ThrfsTer18)
c.47del (p.Asn16ThrfsTer18)
n.1088del
n.1010del
n.919del
c.7427del (p.Asn2476ThrfsTer18)
c.3395del (p.Asn1132ThrfsTer18)
c.416del (p.Asn139ThrfsTer18)
c.515del (p.Asn172ThrfsTer18)
c.7415del (p.Asn2472ThrfsTer18)
c.184del (n.184del)
c.7412del (p.Asn2471ThrfsTer18)
c.7424del (p.Asn2475ThrfsTer18)
c.7403del (p.Asn2468ThrfsTer18)
c.7058del (p.Asn2353ThrfsTer18)
c.3404del (p.Asn1135ThrfsTer18)
c.7298del (p.Asn2433ThrfsTer18)
c.7289del (p.Asn2430ThrfsTer18)
c.7304del (p.Asn2435ThrfsTer18)
c.1601del (p.Asn534ThrfsTer18)
 ClinVar
Xg.31774076T>ACA412658952DMDc.2272A>T (p.Asn758Tyr)
c.46A>T (p.Asn16Tyr)
n.1087A>T
n.1009A>T
n.918A>T
c.7426A>T (p.Asn2476Tyr)
c.3394A>T (p.Asn1132Tyr)
c.415A>T (p.Asn139Tyr)
c.514A>T (p.Asn172Tyr)
c.7414A>T (p.Asn2472Tyr)
c.183A>T (n.183A>T)
c.7411A>T (p.Asn2471Tyr)
c.7423A>T (p.Asn2475Tyr)
c.7402A>T (p.Asn2468Tyr)
c.7057A>T (p.Asn2353Tyr)
c.3403A>T (p.Asn1135Tyr)
c.7297A>T (p.Asn2433Tyr)
c.7288A>T (p.Asn2430Tyr)
c.7303A>T (p.Asn2435Tyr)
c.1600A>T (p.Asn534Tyr)
Xg.31774076T>CCA412658954DMDc.2272A>G (p.Asn758Asp)
c.46A>G (p.Asn16Asp)
n.1087A>G
n.1009A>G
n.918A>G
c.7426A>G (p.Asn2476Asp)
c.3394A>G (p.Asn1132Asp)
c.415A>G (p.Asn139Asp)
c.514A>G (p.Asn172Asp)
c.7414A>G (p.Asn2472Asp)
c.183A>G (n.183A>G)
c.7411A>G (p.Asn2471Asp)
c.7423A>G (p.Asn2475Asp)
c.7402A>G (p.Asn2468Asp)
c.7057A>G (p.Asn2353Asp)
c.3403A>G (p.Asn1135Asp)
c.7297A>G (p.Asn2433Asp)
c.7288A>G (p.Asn2430Asp)
c.7303A>G (p.Asn2435Asp)
c.1600A>G (p.Asn534Asp)
Xg.31774076T>GCA412658953DMDc.2272A>C (p.Asn758His)
c.46A>C (p.Asn16His)
n.1087A>C
n.1009A>C
n.918A>C
c.7426A>C (p.Asn2476His)
c.3394A>C (p.Asn1132His)
c.415A>C (p.Asn139His)
c.514A>C (p.Asn172His)
c.7414A>C (p.Asn2472His)
c.183A>C (n.183A>C)
c.7411A>C (p.Asn2471His)
c.7423A>C (p.Asn2475His)
c.7402A>C (p.Asn2468His)
c.7057A>C (p.Asn2353His)
c.3403A>C (p.Asn1135His)
c.7297A>C (p.Asn2433His)
c.7288A>C (p.Asn2430His)
c.7303A>C (p.Asn2435His)
c.1600A>C (p.Asn534His)
Xg.31774077delCA2695232447DMDc.2271del (p.Phe757LeufsTer19)
c.45del (p.Phe15LeufsTer19)
n.1086del
n.1008del
n.917del
c.7425del (p.Phe2475LeufsTer19)
c.3393del (p.Phe1131LeufsTer19)
c.414del (p.Phe138LeufsTer19)
c.513del (p.Phe171LeufsTer19)
c.7413del (p.Phe2471LeufsTer19)
c.182del (n.182del)
c.7410del (p.Phe2470LeufsTer19)
c.7422del (p.Phe2474LeufsTer19)
c.7401del (p.Phe2467LeufsTer19)
c.7056del (p.Phe2352LeufsTer19)
c.3402del (p.Phe1134LeufsTer19)
c.7296del (p.Phe2432LeufsTer19)
c.7287del (p.Phe2429LeufsTer19)
c.7302del (p.Phe2434LeufsTer19)
c.1599del (p.Phe533LeufsTer19)
Xg.31774077G>ACA515859356DMDc.2271C>T (p.Phe757=)
c.45C>T (p.Phe15=)
n.1086C>T
n.1008C>T
n.917C>T
c.7425C>T (p.Phe2475=)
c.3393C>T (p.Phe1131=)
c.414C>T (p.Phe138=)
c.513C>T (p.Phe171=)
c.7413C>T (p.Phe2471=)
c.182C>T (n.182C>T)
c.7410C>T (p.Phe2470=)
c.7422C>T (p.Phe2474=)
c.7401C>T (p.Phe2467=)
c.7056C>T (p.Phe2352=)
c.3402C>T (p.Phe1134=)
c.7296C>T (p.Phe2432=)
c.7287C>T (p.Phe2429=)
c.7302C>T (p.Phe2434=)
c.1599C>T (p.Phe533=)
Xg.31774077G>CCA412658955DMDc.2271C>G (p.Phe757Leu)
c.45C>G (p.Phe15Leu)
n.1086C>G
n.1008C>G
n.917C>G
c.7425C>G (p.Phe2475Leu)
c.3393C>G (p.Phe1131Leu)
c.414C>G (p.Phe138Leu)
c.513C>G (p.Phe171Leu)
c.7413C>G (p.Phe2471Leu)
c.182C>G (n.182C>G)
c.7410C>G (p.Phe2470Leu)
c.7422C>G (p.Phe2474Leu)
c.7401C>G (p.Phe2467Leu)
c.7056C>G (p.Phe2352Leu)
c.3402C>G (p.Phe1134Leu)
c.7296C>G (p.Phe2432Leu)
c.7287C>G (p.Phe2429Leu)
c.7302C>G (p.Phe2434Leu)
c.1599C>G (p.Phe533Leu)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774077G>TCA412658956DMDc.2271C>A (p.Phe757Leu)
c.45C>A (p.Phe15Leu)
n.1086C>A
n.1008C>A
n.917C>A
c.7425C>A (p.Phe2475Leu)
c.3393C>A (p.Phe1131Leu)
c.414C>A (p.Phe138Leu)
c.513C>A (p.Phe171Leu)
c.7413C>A (p.Phe2471Leu)
c.182C>A (n.182C>A)
c.7410C>A (p.Phe2470Leu)
c.7422C>A (p.Phe2474Leu)
c.7401C>A (p.Phe2467Leu)
c.7056C>A (p.Phe2352Leu)
c.3402C>A (p.Phe1134Leu)
c.7296C>A (p.Phe2432Leu)
c.7287C>A (p.Phe2429Leu)
c.7302C>A (p.Phe2434Leu)
c.1599C>A (p.Phe533Leu)
 gnomAD v4
Xg.31774078A=CA2422548650DMDc.2270T= (p.Phe757=)
c.44T= (p.Phe15=)
n.1085T=
n.1007T=
n.916T=
c.7424T= (p.Phe2475=)
c.3392T= (p.Phe1131=)
c.413T= (p.Phe138=)
c.512T= (p.Phe171=)
c.7412T= (p.Phe2471=)
c.181T= (n.181T=)
c.7409T= (p.Phe2470=)
c.7421T= (p.Phe2474=)
c.7400T= (p.Phe2467=)
c.7055T= (p.Phe2352=)
c.3401T= (p.Phe1134=)
c.7295T= (p.Phe2432=)
c.7286T= (p.Phe2429=)
c.7301T= (p.Phe2434=)
c.1598T= (p.Phe533=)
Xg.31774078A>CCA412658957DMDc.2270T>G (p.Phe757Cys)
c.44T>G (p.Phe15Cys)
n.1085T>G
n.1007T>G
n.916T>G
c.7424T>G (p.Phe2475Cys)
c.3392T>G (p.Phe1131Cys)
c.413T>G (p.Phe138Cys)
c.512T>G (p.Phe171Cys)
c.7412T>G (p.Phe2471Cys)
c.181T>G (n.181T>G)
c.7409T>G (p.Phe2470Cys)
c.7421T>G (p.Phe2474Cys)
c.7400T>G (p.Phe2467Cys)
c.7055T>G (p.Phe2352Cys)
c.3401T>G (p.Phe1134Cys)
c.7295T>G (p.Phe2432Cys)
c.7286T>G (p.Phe2429Cys)
c.7301T>G (p.Phe2434Cys)
c.1598T>G (p.Phe533Cys)
Xg.31774078A>GCA412658958DMDc.2270T>C (p.Phe757Ser)
c.44T>C (p.Phe15Ser)
n.1085T>C
n.1007T>C
n.916T>C
c.7424T>C (p.Phe2475Ser)
c.3392T>C (p.Phe1131Ser)
c.413T>C (p.Phe138Ser)
c.512T>C (p.Phe171Ser)
c.7412T>C (p.Phe2471Ser)
c.181T>C (n.181T>C)
c.7409T>C (p.Phe2470Ser)
c.7421T>C (p.Phe2474Ser)
c.7400T>C (p.Phe2467Ser)
c.7055T>C (p.Phe2352Ser)
c.3401T>C (p.Phe1134Ser)
c.7295T>C (p.Phe2432Ser)
c.7286T>C (p.Phe2429Ser)
c.7301T>C (p.Phe2434Ser)
c.1598T>C (p.Phe533Ser)
Xg.31774078A>TCA412658959DMDc.2270T>A (p.Phe757Tyr)
c.44T>A (p.Phe15Tyr)
n.1085T>A
n.1007T>A
n.916T>A
c.7424T>A (p.Phe2475Tyr)
c.3392T>A (p.Phe1131Tyr)
c.413T>A (p.Phe138Tyr)
c.512T>A (p.Phe171Tyr)
c.7412T>A (p.Phe2471Tyr)
c.181T>A (n.181T>A)
c.7409T>A (p.Phe2470Tyr)
c.7421T>A (p.Phe2474Tyr)
c.7400T>A (p.Phe2467Tyr)
c.7055T>A (p.Phe2352Tyr)
c.3401T>A (p.Phe1134Tyr)
c.7295T>A (p.Phe2432Tyr)
c.7286T>A (p.Phe2429Tyr)
c.7301T>A (p.Phe2434Tyr)
c.1598T>A (p.Phe533Tyr)
 dbSNP
Xg.31774079A>CCA412658960DMDc.2269T>G (p.Phe757Val)
c.43T>G (p.Phe15Val)
n.1084T>G
n.1006T>G
n.915T>G
c.7423T>G (p.Phe2475Val)
c.3391T>G (p.Phe1131Val)
c.412T>G (p.Phe138Val)
c.511T>G (p.Phe171Val)
c.7411T>G (p.Phe2471Val)
c.180T>G (n.180T>G)
c.7408T>G (p.Phe2470Val)
c.7420T>G (p.Phe2474Val)
c.7399T>G (p.Phe2467Val)
c.7054T>G (p.Phe2352Val)
c.3400T>G (p.Phe1134Val)
c.7294T>G (p.Phe2432Val)
c.7285T>G (p.Phe2429Val)
c.7300T>G (p.Phe2434Val)
c.1597T>G (p.Phe533Val)
Xg.31774079A>GCA412658961DMDc.2269T>C (p.Phe757Leu)
c.43T>C (p.Phe15Leu)
n.1084T>C
n.1006T>C
n.915T>C
c.7423T>C (p.Phe2475Leu)
c.3391T>C (p.Phe1131Leu)
c.412T>C (p.Phe138Leu)
c.511T>C (p.Phe171Leu)
c.7411T>C (p.Phe2471Leu)
c.180T>C (n.180T>C)
c.7408T>C (p.Phe2470Leu)
c.7420T>C (p.Phe2474Leu)
c.7399T>C (p.Phe2467Leu)
c.7054T>C (p.Phe2352Leu)
c.3400T>C (p.Phe1134Leu)
c.7294T>C (p.Phe2432Leu)
c.7285T>C (p.Phe2429Leu)
c.7300T>C (p.Phe2434Leu)
c.1597T>C (p.Phe533Leu)
Xg.31774079A>TCA412658962DMDc.2269T>A (p.Phe757Ile)
c.43T>A (p.Phe15Ile)
n.1084T>A
n.1006T>A
n.915T>A
c.7423T>A (p.Phe2475Ile)
c.3391T>A (p.Phe1131Ile)
c.412T>A (p.Phe138Ile)
c.511T>A (p.Phe171Ile)
c.7411T>A (p.Phe2471Ile)
c.180T>A (n.180T>A)
c.7408T>A (p.Phe2470Ile)
c.7420T>A (p.Phe2474Ile)
c.7399T>A (p.Phe2467Ile)
c.7054T>A (p.Phe2352Ile)
c.3400T>A (p.Phe1134Ile)
c.7294T>A (p.Phe2432Ile)
c.7285T>A (p.Phe2429Ile)
c.7300T>A (p.Phe2434Ile)
c.1597T>A (p.Phe533Ile)
Xg.31774080A>CCA412658963DMDc.2268T>G (p.Asp756Glu)
c.42T>G (p.Asp14Glu)
n.1083T>G
n.1005T>G
n.914T>G
c.7422T>G (p.Asp2474Glu)
c.3390T>G (p.Asp1130Glu)
c.411T>G (p.Asp137Glu)
c.510T>G (p.Asp170Glu)
c.7410T>G (p.Asp2470Glu)
c.179T>G (n.179T>G)
c.7407T>G (p.Asp2469Glu)
c.7419T>G (p.Asp2473Glu)
c.7398T>G (p.Asp2466Glu)
c.7053T>G (p.Asp2351Glu)
c.3399T>G (p.Asp1133Glu)
c.7293T>G (p.Asp2431Glu)
c.7284T>G (p.Asp2428Glu)
c.7299T>G (p.Asp2433Glu)
c.1596T>G (p.Asp532Glu)
Xg.31774080A>GCA515859357DMDc.2268T>C (p.Asp756=)
c.42T>C (p.Asp14=)
n.1083T>C
n.1005T>C
n.914T>C
c.7422T>C (p.Asp2474=)
c.3390T>C (p.Asp1130=)
c.411T>C (p.Asp137=)
c.510T>C (p.Asp170=)
c.7410T>C (p.Asp2470=)
c.179T>C (n.179T>C)
c.7407T>C (p.Asp2469=)
c.7419T>C (p.Asp2473=)
c.7398T>C (p.Asp2466=)
c.7053T>C (p.Asp2351=)
c.3399T>C (p.Asp1133=)
c.7293T>C (p.Asp2431=)
c.7284T>C (p.Asp2428=)
c.7299T>C (p.Asp2433=)
c.1596T>C (p.Asp532=)
Xg.31774080A>TCA412658964DMDc.2268T>A (p.Asp756Glu)
c.42T>A (p.Asp14Glu)
n.1083T>A
n.1005T>A
n.914T>A
c.7422T>A (p.Asp2474Glu)
c.3390T>A (p.Asp1130Glu)
c.411T>A (p.Asp137Glu)
c.510T>A (p.Asp170Glu)
c.7410T>A (p.Asp2470Glu)
c.179T>A (n.179T>A)
c.7407T>A (p.Asp2469Glu)
c.7419T>A (p.Asp2473Glu)
c.7398T>A (p.Asp2466Glu)
c.7053T>A (p.Asp2351Glu)
c.3399T>A (p.Asp1133Glu)
c.7293T>A (p.Asp2431Glu)
c.7284T>A (p.Asp2428Glu)
c.7299T>A (p.Asp2433Glu)
c.1596T>A (p.Asp532Glu)
Xg.31774081T>ACA412658966DMDc.2267A>T (p.Asp756Val)
c.41A>T (p.Asp14Val)
n.1082A>T
n.1004A>T
n.913A>T
c.7421A>T (p.Asp2474Val)
c.3389A>T (p.Asp1130Val)
c.410A>T (p.Asp137Val)
c.509A>T (p.Asp170Val)
c.7409A>T (p.Asp2470Val)
c.178A>T (n.178A>T)
c.7406A>T (p.Asp2469Val)
c.7418A>T (p.Asp2473Val)
c.7397A>T (p.Asp2466Val)
c.7052A>T (p.Asp2351Val)
c.3398A>T (p.Asp1133Val)
c.7292A>T (p.Asp2431Val)
c.7283A>T (p.Asp2428Val)
c.7298A>T (p.Asp2433Val)
c.1595A>T (p.Asp532Val)
Xg.31774081T>CCA412658967DMDc.2267A>G (p.Asp756Gly)
c.41A>G (p.Asp14Gly)
n.1082A>G
n.1004A>G
n.913A>G
c.7421A>G (p.Asp2474Gly)
c.3389A>G (p.Asp1130Gly)
c.410A>G (p.Asp137Gly)
c.509A>G (p.Asp170Gly)
c.7409A>G (p.Asp2470Gly)
c.178A>G (n.178A>G)
c.7406A>G (p.Asp2469Gly)
c.7418A>G (p.Asp2473Gly)
c.7397A>G (p.Asp2466Gly)
c.7052A>G (p.Asp2351Gly)
c.3398A>G (p.Asp1133Gly)
c.7292A>G (p.Asp2431Gly)
c.7283A>G (p.Asp2428Gly)
c.7298A>G (p.Asp2433Gly)
c.1595A>G (p.Asp532Gly)
 ClinVar dbSNP
Xg.31774081T>GCA412658965DMDc.2267A>C (p.Asp756Ala)
c.41A>C (p.Asp14Ala)
n.1082A>C
n.1004A>C
n.913A>C
c.7421A>C (p.Asp2474Ala)
c.3389A>C (p.Asp1130Ala)
c.410A>C (p.Asp137Ala)
c.509A>C (p.Asp170Ala)
c.7409A>C (p.Asp2470Ala)
c.178A>C (n.178A>C)
c.7406A>C (p.Asp2469Ala)
c.7418A>C (p.Asp2473Ala)
c.7397A>C (p.Asp2466Ala)
c.7052A>C (p.Asp2351Ala)
c.3398A>C (p.Asp1133Ala)
c.7292A>C (p.Asp2431Ala)
c.7283A>C (p.Asp2428Ala)
c.7298A>C (p.Asp2433Ala)
c.1595A>C (p.Asp532Ala)
Xg.31774082C>ACA412658968DMDc.2266G>T (p.Asp756Tyr)
c.40G>T (p.Asp14Tyr)
n.1081G>T
n.1003G>T
n.912G>T
c.7420G>T (p.Asp2474Tyr)
c.3388G>T (p.Asp1130Tyr)
c.409G>T (p.Asp137Tyr)
c.508G>T (p.Asp170Tyr)
c.7408G>T (p.Asp2470Tyr)
c.177G>T (n.177G>T)
c.7405G>T (p.Asp2469Tyr)
c.7417G>T (p.Asp2473Tyr)
c.7396G>T (p.Asp2466Tyr)
c.7051G>T (p.Asp2351Tyr)
c.3397G>T (p.Asp1133Tyr)
c.7291G>T (p.Asp2431Tyr)
c.7282G>T (p.Asp2428Tyr)
c.7297G>T (p.Asp2433Tyr)
c.1594G>T (p.Asp532Tyr)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774082C>GCA412658969DMDc.2266G>C (p.Asp756His)
c.40G>C (p.Asp14His)
n.1081G>C
n.1003G>C
n.912G>C
c.7420G>C (p.Asp2474His)
c.3388G>C (p.Asp1130His)
c.409G>C (p.Asp137His)
c.508G>C (p.Asp170His)
c.7408G>C (p.Asp2470His)
c.177G>C (n.177G>C)
c.7405G>C (p.Asp2469His)
c.7417G>C (p.Asp2473His)
c.7396G>C (p.Asp2466His)
c.7051G>C (p.Asp2351His)
c.3397G>C (p.Asp1133His)
c.7291G>C (p.Asp2431His)
c.7282G>C (p.Asp2428His)
c.7297G>C (p.Asp2433His)
c.1594G>C (p.Asp532His)
Xg.31774082C>TCA412658970DMDc.2266G>A (p.Asp756Asn)
c.40G>A (p.Asp14Asn)
n.1081G>A
n.1003G>A
n.912G>A
c.7420G>A (p.Asp2474Asn)
c.3388G>A (p.Asp1130Asn)
c.409G>A (p.Asp137Asn)
c.508G>A (p.Asp170Asn)
c.7408G>A (p.Asp2470Asn)
c.177G>A (n.177G>A)
c.7405G>A (p.Asp2469Asn)
c.7417G>A (p.Asp2473Asn)
c.7396G>A (p.Asp2466Asn)
c.7051G>A (p.Asp2351Asn)
c.3397G>A (p.Asp1133Asn)
c.7291G>A (p.Asp2431Asn)
c.7282G>A (p.Asp2428Asn)
c.7297G>A (p.Asp2433Asn)
c.1594G>A (p.Asp532Asn)
Xg.31774083T>ACA515859358DMDc.2265A>T (p.Ala755=)
c.39A>T (p.Ala13=)
n.1080A>T
n.1002A>T
n.911A>T
c.7419A>T (p.Ala2473=)
c.3387A>T (p.Ala1129=)
c.408A>T (p.Ala136=)
c.507A>T (p.Ala169=)
c.7407A>T (p.Ala2469=)
c.176A>T (n.176A>T)
c.7404A>T (p.Ala2468=)
c.7416A>T (p.Ala2472=)
c.7395A>T (p.Ala2465=)
c.7050A>T (p.Ala2350=)
c.3396A>T (p.Ala1132=)
c.7290A>T (p.Ala2430=)
c.7281A>T (p.Ala2427=)
c.7296A>T (p.Ala2432=)
c.1593A>T (p.Ala531=)
Xg.31774083T>CCA515859359DMDc.2265A>G (p.Ala755=)
c.39A>G (p.Ala13=)
n.1080A>G
n.1002A>G
n.911A>G
c.7419A>G (p.Ala2473=)
c.3387A>G (p.Ala1129=)
c.408A>G (p.Ala136=)
c.507A>G (p.Ala169=)
c.7407A>G (p.Ala2469=)
c.176A>G (n.176A>G)
c.7404A>G (p.Ala2468=)
c.7416A>G (p.Ala2472=)
c.7395A>G (p.Ala2465=)
c.7050A>G (p.Ala2350=)
c.3396A>G (p.Ala1132=)
c.7290A>G (p.Ala2430=)
c.7281A>G (p.Ala2427=)
c.7296A>G (p.Ala2432=)
c.1593A>G (p.Ala531=)
Xg.31774083T>GCA515859360DMDc.2265A>C (p.Ala755=)
c.39A>C (p.Ala13=)
n.1080A>C
n.1002A>C
n.911A>C
c.7419A>C (p.Ala2473=)
c.3387A>C (p.Ala1129=)
c.408A>C (p.Ala136=)
c.507A>C (p.Ala169=)
c.7407A>C (p.Ala2469=)
c.176A>C (n.176A>C)
c.7404A>C (p.Ala2468=)
c.7416A>C (p.Ala2472=)
c.7395A>C (p.Ala2465=)
c.7050A>C (p.Ala2350=)
c.3396A>C (p.Ala1132=)
c.7290A>C (p.Ala2430=)
c.7281A>C (p.Ala2427=)
c.7296A>C (p.Ala2432=)
c.1593A>C (p.Ala531=)
Xg.31774084G>ACA412658971DMDc.2264C>T (p.Ala755Val)
c.38C>T (p.Ala13Val)
n.1079C>T
n.1001C>T
n.910C>T
c.7418C>T (p.Ala2473Val)
c.3386C>T (p.Ala1129Val)
c.407C>T (p.Ala136Val)
c.506C>T (p.Ala169Val)
c.7406C>T (p.Ala2469Val)
c.175C>T (n.175C>T)
c.7403C>T (p.Ala2468Val)
c.7415C>T (p.Ala2472Val)
c.7394C>T (p.Ala2465Val)
c.7049C>T (p.Ala2350Val)
c.3395C>T (p.Ala1132Val)
c.7289C>T (p.Ala2430Val)
c.7280C>T (p.Ala2427Val)
c.7295C>T (p.Ala2432Val)
c.1592C>T (p.Ala531Val)
 ClinVar gnomAD v4
Xg.31774084G>CCA412658972DMDc.2264C>G (p.Ala755Gly)
c.38C>G (p.Ala13Gly)
n.1079C>G
n.1001C>G
n.910C>G
c.7418C>G (p.Ala2473Gly)
c.3386C>G (p.Ala1129Gly)
c.407C>G (p.Ala136Gly)
c.506C>G (p.Ala169Gly)
c.7406C>G (p.Ala2469Gly)
c.175C>G (n.175C>G)
c.7403C>G (p.Ala2468Gly)
c.7415C>G (p.Ala2472Gly)
c.7394C>G (p.Ala2465Gly)
c.7049C>G (p.Ala2350Gly)
c.3395C>G (p.Ala1132Gly)
c.7289C>G (p.Ala2430Gly)
c.7280C>G (p.Ala2427Gly)
c.7295C>G (p.Ala2432Gly)
c.1592C>G (p.Ala531Gly)
Xg.31774084G>TCA412658973DMDc.2264C>A (p.Ala755Glu)
c.38C>A (p.Ala13Glu)
n.1079C>A
n.1001C>A
n.910C>A
c.7418C>A (p.Ala2473Glu)
c.3386C>A (p.Ala1129Glu)
c.407C>A (p.Ala136Glu)
c.506C>A (p.Ala169Glu)
c.7406C>A (p.Ala2469Glu)
c.175C>A (n.175C>A)
c.7403C>A (p.Ala2468Glu)
c.7415C>A (p.Ala2472Glu)
c.7394C>A (p.Ala2465Glu)
c.7049C>A (p.Ala2350Glu)
c.3395C>A (p.Ala1132Glu)
c.7289C>A (p.Ala2430Glu)
c.7280C>A (p.Ala2427Glu)
c.7295C>A (p.Ala2432Glu)
c.1592C>A (p.Ala531Glu)
Xg.31774085C>ACA412658976DMDc.2263G>T (p.Ala755Ser)
c.37G>T (p.Ala13Ser)
n.1078G>T
n.1000G>T
n.909G>T
c.7417G>T (p.Ala2473Ser)
c.3385G>T (p.Ala1129Ser)
c.406G>T (p.Ala136Ser)
c.505G>T (p.Ala169Ser)
c.7405G>T (p.Ala2469Ser)
c.174G>T (n.174G>T)
c.7402G>T (p.Ala2468Ser)
c.7414G>T (p.Ala2472Ser)
c.7393G>T (p.Ala2465Ser)
c.7048G>T (p.Ala2350Ser)
c.3394G>T (p.Ala1132Ser)
c.7288G>T (p.Ala2430Ser)
c.7279G>T (p.Ala2427Ser)
c.7294G>T (p.Ala2432Ser)
c.1591G>T (p.Ala531Ser)
Xg.31774085C>GCA412658974DMDc.2263G>C (p.Ala755Pro)
c.37G>C (p.Ala13Pro)
n.1078G>C
n.1000G>C
n.909G>C
c.7417G>C (p.Ala2473Pro)
c.3385G>C (p.Ala1129Pro)
c.406G>C (p.Ala136Pro)
c.505G>C (p.Ala169Pro)
c.7405G>C (p.Ala2469Pro)
c.174G>C (n.174G>C)
c.7402G>C (p.Ala2468Pro)
c.7414G>C (p.Ala2472Pro)
c.7393G>C (p.Ala2465Pro)
c.7048G>C (p.Ala2350Pro)
c.3394G>C (p.Ala1132Pro)
c.7288G>C (p.Ala2430Pro)
c.7279G>C (p.Ala2427Pro)
c.7294G>C (p.Ala2432Pro)
c.1591G>C (p.Ala531Pro)
Xg.31774085C>TCA412658975DMDc.2263G>A (p.Ala755Thr)
c.37G>A (p.Ala13Thr)
n.1078G>A
n.1000G>A
n.909G>A
c.7417G>A (p.Ala2473Thr)
c.3385G>A (p.Ala1129Thr)
c.406G>A (p.Ala136Thr)
c.505G>A (p.Ala169Thr)
c.7405G>A (p.Ala2469Thr)
c.174G>A (n.174G>A)
c.7402G>A (p.Ala2468Thr)
c.7414G>A (p.Ala2472Thr)
c.7393G>A (p.Ala2465Thr)
c.7048G>A (p.Ala2350Thr)
c.3394G>A (p.Ala1132Thr)
c.7288G>A (p.Ala2430Thr)
c.7279G>A (p.Ala2427Thr)
c.7294G>A (p.Ala2432Thr)
c.1591G>A (p.Ala531Thr)
Xg.31774086C>ACA515859361DMDc.2262G>T (p.Leu754=)
c.36G>T (p.Leu12=)
n.1077G>T
n.999G>T
n.908G>T
c.7416G>T (p.Leu2472=)
c.3384G>T (p.Leu1128=)
c.405G>T (p.Leu135=)
c.504G>T (p.Leu168=)
c.7404G>T (p.Leu2468=)
c.173G>T (n.173G>T)
c.7401G>T (p.Leu2467=)
c.7413G>T (p.Leu2471=)
c.7392G>T (p.Leu2464=)
c.7047G>T (p.Leu2349=)
c.3393G>T (p.Leu1131=)
c.7287G>T (p.Leu2429=)
c.7278G>T (p.Leu2426=)
c.7293G>T (p.Leu2431=)
c.1590G>T (p.Leu530=)
Xg.31774086C>GCA515859362DMDc.2262G>C (p.Leu754=)
c.36G>C (p.Leu12=)
n.1077G>C
n.999G>C
n.908G>C
c.7416G>C (p.Leu2472=)
c.3384G>C (p.Leu1128=)
c.405G>C (p.Leu135=)
c.504G>C (p.Leu168=)
c.7404G>C (p.Leu2468=)
c.173G>C (n.173G>C)
c.7401G>C (p.Leu2467=)
c.7413G>C (p.Leu2471=)
c.7392G>C (p.Leu2464=)
c.7047G>C (p.Leu2349=)
c.3393G>C (p.Leu1131=)
c.7287G>C (p.Leu2429=)
c.7278G>C (p.Leu2426=)
c.7293G>C (p.Leu2431=)
c.1590G>C (p.Leu530=)
Xg.31774086C>TCA515859363DMDc.2262G>A (p.Leu754=)
c.36G>A (p.Leu12=)
n.1077G>A
n.999G>A
n.908G>A
c.7416G>A (p.Leu2472=)
c.3384G>A (p.Leu1128=)
c.405G>A (p.Leu135=)
c.504G>A (p.Leu168=)
c.7404G>A (p.Leu2468=)
c.173G>A (n.173G>A)
c.7401G>A (p.Leu2467=)
c.7413G>A (p.Leu2471=)
c.7392G>A (p.Leu2464=)
c.7047G>A (p.Leu2349=)
c.3393G>A (p.Leu1131=)
c.7287G>A (p.Leu2429=)
c.7278G>A (p.Leu2426=)
c.7293G>A (p.Leu2431=)
c.1590G>A (p.Leu530=)
Xg.31774087A>CCA412658977DMDc.2261T>G (p.Leu754Arg)
c.35T>G (p.Leu12Arg)
n.1076T>G
n.998T>G
n.907T>G
c.7415T>G (p.Leu2472Arg)
c.3383T>G (p.Leu1128Arg)
c.404T>G (p.Leu135Arg)
c.503T>G (p.Leu168Arg)
c.7403T>G (p.Leu2468Arg)
c.172T>G (n.172T>G)
c.7400T>G (p.Leu2467Arg)
c.7412T>G (p.Leu2471Arg)
c.7391T>G (p.Leu2464Arg)
c.7046T>G (p.Leu2349Arg)
c.3392T>G (p.Leu1131Arg)
c.7286T>G (p.Leu2429Arg)
c.7277T>G (p.Leu2426Arg)
c.7292T>G (p.Leu2431Arg)
c.1589T>G (p.Leu530Arg)
Xg.31774087A>GCA412658978DMDc.2261T>C (p.Leu754Pro)
c.35T>C (p.Leu12Pro)
n.1076T>C
n.998T>C
n.907T>C
c.7415T>C (p.Leu2472Pro)
c.3383T>C (p.Leu1128Pro)
c.404T>C (p.Leu135Pro)
c.503T>C (p.Leu168Pro)
c.7403T>C (p.Leu2468Pro)
c.172T>C (n.172T>C)
c.7400T>C (p.Leu2467Pro)
c.7412T>C (p.Leu2471Pro)
c.7391T>C (p.Leu2464Pro)
c.7046T>C (p.Leu2349Pro)
c.3392T>C (p.Leu1131Pro)
c.7286T>C (p.Leu2429Pro)
c.7277T>C (p.Leu2426Pro)
c.7292T>C (p.Leu2431Pro)
c.1589T>C (p.Leu530Pro)
Xg.31774087A>TCA412658979DMDc.2261T>A (p.Leu754Gln)
c.35T>A (p.Leu12Gln)
n.1076T>A
n.998T>A
n.907T>A
c.7415T>A (p.Leu2472Gln)
c.3383T>A (p.Leu1128Gln)
c.404T>A (p.Leu135Gln)
c.503T>A (p.Leu168Gln)
c.7403T>A (p.Leu2468Gln)
c.172T>A (n.172T>A)
c.7400T>A (p.Leu2467Gln)
c.7412T>A (p.Leu2471Gln)
c.7391T>A (p.Leu2464Gln)
c.7046T>A (p.Leu2349Gln)
c.3392T>A (p.Leu1131Gln)
c.7286T>A (p.Leu2429Gln)
c.7277T>A (p.Leu2426Gln)
c.7292T>A (p.Leu2431Gln)
c.1589T>A (p.Leu530Gln)
Xg.31774088G>ACA515859364DMDc.2260C>T (p.Leu754=)
c.34C>T (p.Leu12=)
n.1075C>T
n.997C>T
n.906C>T
c.7414C>T (p.Leu2472=)
c.3382C>T (p.Leu1128=)
c.403C>T (p.Leu135=)
c.502C>T (p.Leu168=)
c.7402C>T (p.Leu2468=)
c.171C>T (n.171C>T)
c.7399C>T (p.Leu2467=)
c.7411C>T (p.Leu2471=)
c.7390C>T (p.Leu2464=)
c.7045C>T (p.Leu2349=)
c.3391C>T (p.Leu1131=)
c.7285C>T (p.Leu2429=)
c.7276C>T (p.Leu2426=)
c.7291C>T (p.Leu2431=)
c.1588C>T (p.Leu530=)
Xg.31774088G>CCA412658980DMDc.2260C>G (p.Leu754Val)
c.34C>G (p.Leu12Val)
n.1075C>G
n.997C>G
n.906C>G
c.7414C>G (p.Leu2472Val)
c.3382C>G (p.Leu1128Val)
c.403C>G (p.Leu135Val)
c.502C>G (p.Leu168Val)
c.7402C>G (p.Leu2468Val)
c.171C>G (n.171C>G)
c.7399C>G (p.Leu2467Val)
c.7411C>G (p.Leu2471Val)
c.7390C>G (p.Leu2464Val)
c.7045C>G (p.Leu2349Val)
c.3391C>G (p.Leu1131Val)
c.7285C>G (p.Leu2429Val)
c.7276C>G (p.Leu2426Val)
c.7291C>G (p.Leu2431Val)
c.1588C>G (p.Leu530Val)
Xg.31774088G>TCA412658981DMDc.2260C>A (p.Leu754Met)
c.34C>A (p.Leu12Met)
n.1075C>A
n.997C>A
n.906C>A
c.7414C>A (p.Leu2472Met)
c.3382C>A (p.Leu1128Met)
c.403C>A (p.Leu135Met)
c.502C>A (p.Leu168Met)
c.7402C>A (p.Leu2468Met)
c.171C>A (n.171C>A)
c.7399C>A (p.Leu2467Met)
c.7411C>A (p.Leu2471Met)
c.7390C>A (p.Leu2464Met)
c.7045C>A (p.Leu2349Met)
c.3391C>A (p.Leu1131Met)
c.7285C>A (p.Leu2429Met)
c.7276C>A (p.Leu2426Met)
c.7291C>A (p.Leu2431Met)
c.1588C>A (p.Leu530Met)
Xg.31774089A>CCA515859365DMDc.2259T>G (p.Ala753=)
c.33T>G (p.Ala11=)
n.1074T>G
n.996T>G
n.905T>G
c.7413T>G (p.Ala2471=)
c.3381T>G (p.Ala1127=)
c.402T>G (p.Ala134=)
c.501T>G (p.Ala167=)
c.7401T>G (p.Ala2467=)
c.170T>G (n.170T>G)
c.7398T>G (p.Ala2466=)
c.7410T>G (p.Ala2470=)
c.7389T>G (p.Ala2463=)
c.7044T>G (p.Ala2348=)
c.3390T>G (p.Ala1130=)
c.7284T>G (p.Ala2428=)
c.7275T>G (p.Ala2425=)
c.7290T>G (p.Ala2430=)
c.1587T>G (p.Ala529=)
Xg.31774089A>GCA515859366DMDc.2259T>C (p.Ala753=)
c.33T>C (p.Ala11=)
n.1074T>C
n.996T>C
n.905T>C
c.7413T>C (p.Ala2471=)
c.3381T>C (p.Ala1127=)
c.402T>C (p.Ala134=)
c.501T>C (p.Ala167=)
c.7401T>C (p.Ala2467=)
c.170T>C (n.170T>C)
c.7398T>C (p.Ala2466=)
c.7410T>C (p.Ala2470=)
c.7389T>C (p.Ala2463=)
c.7044T>C (p.Ala2348=)
c.3390T>C (p.Ala1130=)
c.7284T>C (p.Ala2428=)
c.7275T>C (p.Ala2425=)
c.7290T>C (p.Ala2430=)
c.1587T>C (p.Ala529=)
Xg.31774089A>TCA515859367DMDc.2259T>A (p.Ala753=)
c.33T>A (p.Ala11=)
n.1074T>A
n.996T>A
n.905T>A
c.7413T>A (p.Ala2471=)
c.3381T>A (p.Ala1127=)
c.402T>A (p.Ala134=)
c.501T>A (p.Ala167=)
c.7401T>A (p.Ala2467=)
c.170T>A (n.170T>A)
c.7398T>A (p.Ala2466=)
c.7410T>A (p.Ala2470=)
c.7389T>A (p.Ala2463=)
c.7044T>A (p.Ala2348=)
c.3390T>A (p.Ala1130=)
c.7284T>A (p.Ala2428=)
c.7275T>A (p.Ala2425=)
c.7290T>A (p.Ala2430=)
c.1587T>A (p.Ala529=)
 ClinVar dbSNP
Xg.31774090G>ACA412658982DMDc.2258C>T (p.Ala753Val)
c.32C>T (p.Ala11Val)
n.1073C>T
n.995C>T
n.904C>T
c.7412C>T (p.Ala2471Val)
c.3380C>T (p.Ala1127Val)
c.401C>T (p.Ala134Val)
c.500C>T (p.Ala167Val)
c.7400C>T (p.Ala2467Val)
c.169C>T (n.169C>T)
c.7397C>T (p.Ala2466Val)
c.7409C>T (p.Ala2470Val)
c.7388C>T (p.Ala2463Val)
c.7043C>T (p.Ala2348Val)
c.3389C>T (p.Ala1130Val)
c.7283C>T (p.Ala2428Val)
c.7274C>T (p.Ala2425Val)
c.7289C>T (p.Ala2430Val)
c.1586C>T (p.Ala529Val)
Xg.31774090G>CCA412658984DMDc.2258C>G (p.Ala753Gly)
c.32C>G (p.Ala11Gly)
n.1073C>G
n.995C>G
n.904C>G
c.7412C>G (p.Ala2471Gly)
c.3380C>G (p.Ala1127Gly)
c.401C>G (p.Ala134Gly)
c.500C>G (p.Ala167Gly)
c.7400C>G (p.Ala2467Gly)
c.169C>G (n.169C>G)
c.7397C>G (p.Ala2466Gly)
c.7409C>G (p.Ala2470Gly)
c.7388C>G (p.Ala2463Gly)
c.7043C>G (p.Ala2348Gly)
c.3389C>G (p.Ala1130Gly)
c.7283C>G (p.Ala2428Gly)
c.7274C>G (p.Ala2425Gly)
c.7289C>G (p.Ala2430Gly)
c.1586C>G (p.Ala529Gly)
Xg.31774090G>TCA412658983DMDc.2258C>A (p.Ala753Asp)
c.32C>A (p.Ala11Asp)
n.1073C>A
n.995C>A
n.904C>A
c.7412C>A (p.Ala2471Asp)
c.3380C>A (p.Ala1127Asp)
c.401C>A (p.Ala134Asp)
c.500C>A (p.Ala167Asp)
c.7400C>A (p.Ala2467Asp)
c.169C>A (n.169C>A)
c.7397C>A (p.Ala2466Asp)
c.7409C>A (p.Ala2470Asp)
c.7388C>A (p.Ala2463Asp)
c.7043C>A (p.Ala2348Asp)
c.3389C>A (p.Ala1130Asp)
c.7283C>A (p.Ala2428Asp)
c.7274C>A (p.Ala2425Asp)
c.7289C>A (p.Ala2430Asp)
c.1586C>A (p.Ala529Asp)
Xg.31774091C>ACA412658985DMDc.2257G>T (p.Ala753Ser)
c.31G>T (p.Ala11Ser)
n.1072G>T
n.994G>T
n.903G>T
c.7411G>T (p.Ala2471Ser)
c.3379G>T (p.Ala1127Ser)
c.400G>T (p.Ala134Ser)
c.499G>T (p.Ala167Ser)
c.7399G>T (p.Ala2467Ser)
c.168G>T (n.168G>T)
c.7396G>T (p.Ala2466Ser)
c.7408G>T (p.Ala2470Ser)
c.7387G>T (p.Ala2463Ser)
c.7042G>T (p.Ala2348Ser)
c.3388G>T (p.Ala1130Ser)
c.7282G>T (p.Ala2428Ser)
c.7273G>T (p.Ala2425Ser)
c.7288G>T (p.Ala2430Ser)
c.1585G>T (p.Ala529Ser)
Xg.31774091C>GCA412658986DMDc.2257G>C (p.Ala753Pro)
c.31G>C (p.Ala11Pro)
n.1072G>C
n.994G>C
n.903G>C
c.7411G>C (p.Ala2471Pro)
c.3379G>C (p.Ala1127Pro)
c.400G>C (p.Ala134Pro)
c.499G>C (p.Ala167Pro)
c.7399G>C (p.Ala2467Pro)
c.168G>C (n.168G>C)
c.7396G>C (p.Ala2466Pro)
c.7408G>C (p.Ala2470Pro)
c.7387G>C (p.Ala2463Pro)
c.7042G>C (p.Ala2348Pro)
c.3388G>C (p.Ala1130Pro)
c.7282G>C (p.Ala2428Pro)
c.7273G>C (p.Ala2425Pro)
c.7288G>C (p.Ala2430Pro)
c.1585G>C (p.Ala529Pro)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774091C>TCA412658987DMDc.2257G>A (p.Ala753Thr)
c.31G>A (p.Ala11Thr)
n.1072G>A
n.994G>A
n.903G>A
c.7411G>A (p.Ala2471Thr)
c.3379G>A (p.Ala1127Thr)
c.400G>A (p.Ala134Thr)
c.499G>A (p.Ala167Thr)
c.7399G>A (p.Ala2467Thr)
c.168G>A (n.168G>A)
c.7396G>A (p.Ala2466Thr)
c.7408G>A (p.Ala2470Thr)
c.7387G>A (p.Ala2463Thr)
c.7042G>A (p.Ala2348Thr)
c.3388G>A (p.Ala1130Thr)
c.7282G>A (p.Ala2428Thr)
c.7273G>A (p.Ala2425Thr)
c.7288G>A (p.Ala2430Thr)
c.1585G>A (p.Ala529Thr)
Xg.31774092A>CCA515859370DMDc.2256T>G (p.Pro752=)
c.30T>G (p.Pro10=)
n.1071T>G
n.993T>G
n.902T>G
c.7410T>G (p.Pro2470=)
c.3378T>G (p.Pro1126=)
c.399T>G (p.Pro133=)
c.498T>G (p.Pro166=)
c.7398T>G (p.Pro2466=)
c.167T>G (n.167T>G)
c.7395T>G (p.Pro2465=)
c.7407T>G (p.Pro2469=)
c.7386T>G (p.Pro2462=)
c.7041T>G (p.Pro2347=)
c.3387T>G (p.Pro1129=)
c.7281T>G (p.Pro2427=)
c.7272T>G (p.Pro2424=)
c.7287T>G (p.Pro2429=)
c.1584T>G (p.Pro528=)
Xg.31774092A>GCA515859369DMDc.2256T>C (p.Pro752=)
c.30T>C (p.Pro10=)
n.1071T>C
n.993T>C
n.902T>C
c.7410T>C (p.Pro2470=)
c.3378T>C (p.Pro1126=)
c.399T>C (p.Pro133=)
c.498T>C (p.Pro166=)
c.7398T>C (p.Pro2466=)
c.167T>C (n.167T>C)
c.7395T>C (p.Pro2465=)
c.7407T>C (p.Pro2469=)
c.7386T>C (p.Pro2462=)
c.7041T>C (p.Pro2347=)
c.3387T>C (p.Pro1129=)
c.7281T>C (p.Pro2427=)
c.7272T>C (p.Pro2424=)
c.7287T>C (p.Pro2429=)
c.1584T>C (p.Pro528=)
Xg.31774092A>TCA515859368DMDc.2256T>A (p.Pro752=)
c.30T>A (p.Pro10=)
n.1071T>A
n.993T>A
n.902T>A
c.7410T>A (p.Pro2470=)
c.3378T>A (p.Pro1126=)
c.399T>A (p.Pro133=)
c.498T>A (p.Pro166=)
c.7398T>A (p.Pro2466=)
c.167T>A (n.167T>A)
c.7395T>A (p.Pro2465=)
c.7407T>A (p.Pro2469=)
c.7386T>A (p.Pro2462=)
c.7041T>A (p.Pro2347=)
c.3387T>A (p.Pro1129=)
c.7281T>A (p.Pro2427=)
c.7272T>A (p.Pro2424=)
c.7287T>A (p.Pro2429=)
c.1584T>A (p.Pro528=)
Xg.31774093G>ACA412658988DMDc.2255C>T (p.Pro752Leu)
c.29C>T (p.Pro10Leu)
n.1070C>T
n.992C>T
n.901C>T
c.7409C>T (p.Pro2470Leu)
c.3377C>T (p.Pro1126Leu)
c.398C>T (p.Pro133Leu)
c.497C>T (p.Pro166Leu)
c.7397C>T (p.Pro2466Leu)
c.166C>T (n.166C>T)
c.7394C>T (p.Pro2465Leu)
c.7406C>T (p.Pro2469Leu)
c.7385C>T (p.Pro2462Leu)
c.7040C>T (p.Pro2347Leu)
c.3386C>T (p.Pro1129Leu)
c.7280C>T (p.Pro2427Leu)
c.7271C>T (p.Pro2424Leu)
c.7286C>T (p.Pro2429Leu)
c.1583C>T (p.Pro528Leu)
Xg.31774093G>CCA412658989DMDc.2255C>G (p.Pro752Arg)
c.29C>G (p.Pro10Arg)
n.1070C>G
n.992C>G
n.901C>G
c.7409C>G (p.Pro2470Arg)
c.3377C>G (p.Pro1126Arg)
c.398C>G (p.Pro133Arg)
c.497C>G (p.Pro166Arg)
c.7397C>G (p.Pro2466Arg)
c.166C>G (n.166C>G)
c.7394C>G (p.Pro2465Arg)
c.7406C>G (p.Pro2469Arg)
c.7385C>G (p.Pro2462Arg)
c.7040C>G (p.Pro2347Arg)
c.3386C>G (p.Pro1129Arg)
c.7280C>G (p.Pro2427Arg)
c.7271C>G (p.Pro2424Arg)
c.7286C>G (p.Pro2429Arg)
c.1583C>G (p.Pro528Arg)
Xg.31774093G>TCA412658990DMDc.2255C>A (p.Pro752His)
c.29C>A (p.Pro10His)
n.1070C>A
n.992C>A
n.901C>A
c.7409C>A (p.Pro2470His)
c.3377C>A (p.Pro1126His)
c.398C>A (p.Pro133His)
c.497C>A (p.Pro166His)
c.7397C>A (p.Pro2466His)
c.166C>A (n.166C>A)
c.7394C>A (p.Pro2465His)
c.7406C>A (p.Pro2469His)
c.7385C>A (p.Pro2462His)
c.7040C>A (p.Pro2347His)
c.3386C>A (p.Pro1129His)
c.7280C>A (p.Pro2427His)
c.7271C>A (p.Pro2424His)
c.7286C>A (p.Pro2429His)
c.1583C>A (p.Pro528His)
Xg.31774094G>ACA412658991DMDc.2254C>T (p.Pro752Ser)
c.28C>T (p.Pro10Ser)
n.1069C>T
n.991C>T
n.900C>T
c.7408C>T (p.Pro2470Ser)
c.3376C>T (p.Pro1126Ser)
c.397C>T (p.Pro133Ser)
c.496C>T (p.Pro166Ser)
c.7396C>T (p.Pro2466Ser)
c.165C>T (n.165C>T)
c.7393C>T (p.Pro2465Ser)
c.7405C>T (p.Pro2469Ser)
c.7384C>T (p.Pro2462Ser)
c.7039C>T (p.Pro2347Ser)
c.3385C>T (p.Pro1129Ser)
c.7279C>T (p.Pro2427Ser)
c.7270C>T (p.Pro2424Ser)
c.7285C>T (p.Pro2429Ser)
c.1582C>T (p.Pro528Ser)
Xg.31774094G>CCA412658992DMDc.2254C>G (p.Pro752Ala)
c.28C>G (p.Pro10Ala)
n.1069C>G
n.991C>G
n.900C>G
c.7408C>G (p.Pro2470Ala)
c.3376C>G (p.Pro1126Ala)
c.397C>G (p.Pro133Ala)
c.496C>G (p.Pro166Ala)
c.7396C>G (p.Pro2466Ala)
c.165C>G (n.165C>G)
c.7393C>G (p.Pro2465Ala)
c.7405C>G (p.Pro2469Ala)
c.7384C>G (p.Pro2462Ala)
c.7039C>G (p.Pro2347Ala)
c.3385C>G (p.Pro1129Ala)
c.7279C>G (p.Pro2427Ala)
c.7270C>G (p.Pro2424Ala)
c.7285C>G (p.Pro2429Ala)
c.1582C>G (p.Pro528Ala)
Xg.31774094G>TCA412658993DMDc.2254C>A (p.Pro752Thr)
c.28C>A (p.Pro10Thr)
n.1069C>A
n.991C>A
n.900C>A
c.7408C>A (p.Pro2470Thr)
c.3376C>A (p.Pro1126Thr)
c.397C>A (p.Pro133Thr)
c.496C>A (p.Pro166Thr)
c.7396C>A (p.Pro2466Thr)
c.165C>A (n.165C>A)
c.7393C>A (p.Pro2465Thr)
c.7405C>A (p.Pro2469Thr)
c.7384C>A (p.Pro2462Thr)
c.7039C>A (p.Pro2347Thr)
c.3385C>A (p.Pro1129Thr)
c.7279C>A (p.Pro2427Thr)
c.7270C>A (p.Pro2424Thr)
c.7285C>A (p.Pro2429Thr)
c.1582C>A (p.Pro528Thr)
Xg.31774095T>ACA515859371DMDc.2253A>T (p.Val751=)
c.27A>T (p.Val9=)
n.1068A>T
n.990A>T
n.899A>T
c.7407A>T (p.Val2469=)
c.3375A>T (p.Val1125=)
c.396A>T (p.Val132=)
c.495A>T (p.Val165=)
c.7395A>T (p.Val2465=)
c.164A>T (n.164A>T)
c.7392A>T (p.Val2464=)
c.7404A>T (p.Val2468=)
c.7383A>T (p.Val2461=)
c.7038A>T (p.Val2346=)
c.3384A>T (p.Val1128=)
c.7278A>T (p.Val2426=)
c.7269A>T (p.Val2423=)
c.7284A>T (p.Val2428=)
c.1581A>T (p.Val527=)
Xg.31774095T>CCA515859372DMDc.2253A>G (p.Val751=)
c.27A>G (p.Val9=)
n.1068A>G
n.990A>G
n.899A>G
c.7407A>G (p.Val2469=)
c.3375A>G (p.Val1125=)
c.396A>G (p.Val132=)
c.495A>G (p.Val165=)
c.7395A>G (p.Val2465=)
c.164A>G (n.164A>G)
c.7392A>G (p.Val2464=)
c.7404A>G (p.Val2468=)
c.7383A>G (p.Val2461=)
c.7038A>G (p.Val2346=)
c.3384A>G (p.Val1128=)
c.7278A>G (p.Val2426=)
c.7269A>G (p.Val2423=)
c.7284A>G (p.Val2428=)
c.1581A>G (p.Val527=)
 ClinVar
Xg.31774095T>GCA515859373DMDc.2253A>C (p.Val751=)
c.27A>C (p.Val9=)
n.1068A>C
n.990A>C
n.899A>C
c.7407A>C (p.Val2469=)
c.3375A>C (p.Val1125=)
c.396A>C (p.Val132=)
c.495A>C (p.Val165=)
c.7395A>C (p.Val2465=)
c.164A>C (n.164A>C)
c.7392A>C (p.Val2464=)
c.7404A>C (p.Val2468=)
c.7383A>C (p.Val2461=)
c.7038A>C (p.Val2346=)
c.3384A>C (p.Val1128=)
c.7278A>C (p.Val2426=)
c.7269A>C (p.Val2423=)
c.7284A>C (p.Val2428=)
c.1581A>C (p.Val527=)
 ClinVar dbSNP
Xg.31774096A=CA2422548651DMDc.2252T= (p.Val751=)
c.26T= (p.Val9=)
n.1067T=
n.989T=
n.898T=
c.7406T= (p.Val2469=)
c.3374T= (p.Val1125=)
c.395T= (p.Val132=)
c.494T= (p.Val165=)
c.7394T= (p.Val2465=)
c.163T= (n.163T=)
c.7391T= (p.Val2464=)
c.7403T= (p.Val2468=)
c.7382T= (p.Val2461=)
c.7037T= (p.Val2346=)
c.3383T= (p.Val1128=)
c.7277T= (p.Val2426=)
c.7268T= (p.Val2423=)
c.7283T= (p.Val2428=)
c.1580T= (p.Val527=)
Xg.31774096A>CCA412658994DMDc.2252T>G (p.Val751Gly)
c.26T>G (p.Val9Gly)
n.1067T>G
n.989T>G
n.898T>G
c.7406T>G (p.Val2469Gly)
c.3374T>G (p.Val1125Gly)
c.395T>G (p.Val132Gly)
c.494T>G (p.Val165Gly)
c.7394T>G (p.Val2465Gly)
c.163T>G (n.163T>G)
c.7391T>G (p.Val2464Gly)
c.7403T>G (p.Val2468Gly)
c.7382T>G (p.Val2461Gly)
c.7037T>G (p.Val2346Gly)
c.3383T>G (p.Val1128Gly)
c.7277T>G (p.Val2426Gly)
c.7268T>G (p.Val2423Gly)
c.7283T>G (p.Val2428Gly)
c.1580T>G (p.Val527Gly)
Xg.31774096A>GCA412658995DMDc.2252T>C (p.Val751Ala)
c.26T>C (p.Val9Ala)
n.1067T>C
n.989T>C
n.898T>C
c.7406T>C (p.Val2469Ala)
c.3374T>C (p.Val1125Ala)
c.395T>C (p.Val132Ala)
c.494T>C (p.Val165Ala)
c.7394T>C (p.Val2465Ala)
c.163T>C (n.163T>C)
c.7391T>C (p.Val2464Ala)
c.7403T>C (p.Val2468Ala)
c.7382T>C (p.Val2461Ala)
c.7037T>C (p.Val2346Ala)
c.3383T>C (p.Val1128Ala)
c.7277T>C (p.Val2426Ala)
c.7268T>C (p.Val2423Ala)
c.7283T>C (p.Val2428Ala)
c.1580T>C (p.Val527Ala)
Xg.31774096A>TCA412658996DMDc.2252T>A (p.Val751Glu)
c.26T>A (p.Val9Glu)
n.1067T>A
n.989T>A
n.898T>A
c.7406T>A (p.Val2469Glu)
c.3374T>A (p.Val1125Glu)
c.395T>A (p.Val132Glu)
c.494T>A (p.Val165Glu)
c.7394T>A (p.Val2465Glu)
c.163T>A (n.163T>A)
c.7391T>A (p.Val2464Glu)
c.7403T>A (p.Val2468Glu)
c.7382T>A (p.Val2461Glu)
c.7037T>A (p.Val2346Glu)
c.3383T>A (p.Val1128Glu)
c.7277T>A (p.Val2426Glu)
c.7268T>A (p.Val2423Glu)
c.7283T>A (p.Val2428Glu)
c.1580T>A (p.Val527Glu)
 dbSNP
Xg.31774097C>ACA412658998DMDc.2251G>T (p.Val751Leu)
c.25G>T (p.Val9Leu)
n.1066G>T
n.988G>T
n.897G>T
c.7405G>T (p.Val2469Leu)
c.3373G>T (p.Val1125Leu)
c.394G>T (p.Val132Leu)
c.493G>T (p.Val165Leu)
c.7393G>T (p.Val2465Leu)
c.162G>T (n.162G>T)
c.7390G>T (p.Val2464Leu)
c.7402G>T (p.Val2468Leu)
c.7381G>T (p.Val2461Leu)
c.7036G>T (p.Val2346Leu)
c.3382G>T (p.Val1128Leu)
c.7276G>T (p.Val2426Leu)
c.7267G>T (p.Val2423Leu)
c.7282G>T (p.Val2428Leu)
c.1579G>T (p.Val527Leu)
 dbSNP
Xg.31774097C>GCA412658999DMDc.2251G>C (p.Val751Leu)
c.25G>C (p.Val9Leu)
n.1066G>C
n.988G>C
n.897G>C
c.7405G>C (p.Val2469Leu)
c.3373G>C (p.Val1125Leu)
c.394G>C (p.Val132Leu)
c.493G>C (p.Val165Leu)
c.7393G>C (p.Val2465Leu)
c.162G>C (n.162G>C)
c.7390G>C (p.Val2464Leu)
c.7402G>C (p.Val2468Leu)
c.7381G>C (p.Val2461Leu)
c.7036G>C (p.Val2346Leu)
c.3382G>C (p.Val1128Leu)
c.7276G>C (p.Val2426Leu)
c.7267G>C (p.Val2423Leu)
c.7282G>C (p.Val2428Leu)
c.1579G>C (p.Val527Leu)
Xg.31774097C>TCA412658997DMDc.2251G>A (p.Val751Ile)
c.25G>A (p.Val9Ile)
n.1066G>A
n.988G>A
n.897G>A
c.7405G>A (p.Val2469Ile)
c.3373G>A (p.Val1125Ile)
c.394G>A (p.Val132Ile)
c.493G>A (p.Val165Ile)
c.7393G>A (p.Val2465Ile)
c.162G>A (n.162G>A)
c.7390G>A (p.Val2464Ile)
c.7402G>A (p.Val2468Ile)
c.7381G>A (p.Val2461Ile)
c.7036G>A (p.Val2346Ile)
c.3382G>A (p.Val1128Ile)
c.7276G>A (p.Val2426Ile)
c.7267G>A (p.Val2423Ile)
c.7282G>A (p.Val2428Ile)
c.1579G>A (p.Val527Ile)
Xg.31774098C>ACA412659000DMDc.2250G>T (p.Glu750Asp)
c.24G>T (p.Glu8Asp)
n.1065G>T
n.987G>T
n.896G>T
c.7404G>T (p.Glu2468Asp)
c.3372G>T (p.Glu1124Asp)
c.393G>T (p.Glu131Asp)
c.492G>T (p.Glu164Asp)
c.7392G>T (p.Glu2464Asp)
c.161G>T (n.161G>T)
c.7389G>T (p.Glu2463Asp)
c.7401G>T (p.Glu2467Asp)
c.7380G>T (p.Glu2460Asp)
c.7035G>T (p.Glu2345Asp)
c.3381G>T (p.Glu1127Asp)
c.7275G>T (p.Glu2425Asp)
c.7266G>T (p.Glu2422Asp)
c.7281G>T (p.Glu2427Asp)
c.1578G>T (p.Glu526Asp)
Xg.31774098C=CA2422548652DMDc.2250G= (p.Glu750=)
c.24G= (p.Glu8=)
n.1065G=
n.987G=
n.896G=
c.7404G= (p.Glu2468=)
c.3372G= (p.Glu1124=)
c.393G= (p.Glu131=)
c.492G= (p.Glu164=)
c.7392G= (p.Glu2464=)
c.161G= (n.161G=)
c.7389G= (p.Glu2463=)
c.7401G= (p.Glu2467=)
c.7380G= (p.Glu2460=)
c.7035G= (p.Glu2345=)
c.3381G= (p.Glu1127=)
c.7275G= (p.Glu2425=)
c.7266G= (p.Glu2422=)
c.7281G= (p.Glu2427=)
c.1578G= (p.Glu526=)
Xg.31774098C>GCA412659001DMDc.2250G>C (p.Glu750Asp)
c.24G>C (p.Glu8Asp)
n.1065G>C
n.987G>C
n.896G>C
c.7404G>C (p.Glu2468Asp)
c.3372G>C (p.Glu1124Asp)
c.393G>C (p.Glu131Asp)
c.492G>C (p.Glu164Asp)
c.7392G>C (p.Glu2464Asp)
c.161G>C (n.161G>C)
c.7389G>C (p.Glu2463Asp)
c.7401G>C (p.Glu2467Asp)
c.7380G>C (p.Glu2460Asp)
c.7035G>C (p.Glu2345Asp)
c.3381G>C (p.Glu1127Asp)
c.7275G>C (p.Glu2425Asp)
c.7266G>C (p.Glu2422Asp)
c.7281G>C (p.Glu2427Asp)
c.1578G>C (p.Glu526Asp)
Xg.31774098C>TCA515859374DMDc.2250G>A (p.Glu750=)
c.24G>A (p.Glu8=)
n.1065G>A
n.987G>A
n.896G>A
c.7404G>A (p.Glu2468=)
c.3372G>A (p.Glu1124=)
c.393G>A (p.Glu131=)
c.492G>A (p.Glu164=)
c.7392G>A (p.Glu2464=)
c.161G>A (n.161G>A)
c.7389G>A (p.Glu2463=)
c.7401G>A (p.Glu2467=)
c.7380G>A (p.Glu2460=)
c.7035G>A (p.Glu2345=)
c.3381G>A (p.Glu1127=)
c.7275G>A (p.Glu2425=)
c.7266G>A (p.Glu2422=)
c.7281G>A (p.Glu2427=)
c.1578G>A (p.Glu526=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31774099T>ACA412659002DMDc.2249A>T (p.Glu750Val)
c.23A>T (p.Glu8Val)
n.1064A>T
n.986A>T
n.895A>T
c.7403A>T (p.Glu2468Val)
c.3371A>T (p.Glu1124Val)
c.392A>T (p.Glu131Val)
c.491A>T (p.Glu164Val)
c.7391A>T (p.Glu2464Val)
c.160A>T (n.160A>T)
c.7388A>T (p.Glu2463Val)
c.7400A>T (p.Glu2467Val)
c.7379A>T (p.Glu2460Val)
c.7034A>T (p.Glu2345Val)
c.3380A>T (p.Glu1127Val)
c.7274A>T (p.Glu2425Val)
c.7265A>T (p.Glu2422Val)
c.7280A>T (p.Glu2427Val)
c.1577A>T (p.Glu526Val)
Xg.31774099T>CCA412659003DMDc.2249A>G (p.Glu750Gly)
c.23A>G (p.Glu8Gly)
n.1064A>G
n.986A>G
n.895A>G
c.7403A>G (p.Glu2468Gly)
c.3371A>G (p.Glu1124Gly)
c.392A>G (p.Glu131Gly)
c.491A>G (p.Glu164Gly)
c.7391A>G (p.Glu2464Gly)
c.160A>G (n.160A>G)
c.7388A>G (p.Glu2463Gly)
c.7400A>G (p.Glu2467Gly)
c.7379A>G (p.Glu2460Gly)
c.7034A>G (p.Glu2345Gly)
c.3380A>G (p.Glu1127Gly)
c.7274A>G (p.Glu2425Gly)
c.7265A>G (p.Glu2422Gly)
c.7280A>G (p.Glu2427Gly)
c.1577A>G (p.Glu526Gly)
Xg.31774099T>GCA412659004DMDc.2249A>C (p.Glu750Ala)
c.23A>C (p.Glu8Ala)
n.1064A>C
n.986A>C
n.895A>C
c.7403A>C (p.Glu2468Ala)
c.3371A>C (p.Glu1124Ala)
c.392A>C (p.Glu131Ala)
c.491A>C (p.Glu164Ala)
c.7391A>C (p.Glu2464Ala)
c.160A>C (n.160A>C)
c.7388A>C (p.Glu2463Ala)
c.7400A>C (p.Glu2467Ala)
c.7379A>C (p.Glu2460Ala)
c.7034A>C (p.Glu2345Ala)
c.3380A>C (p.Glu1127Ala)
c.7274A>C (p.Glu2425Ala)
c.7265A>C (p.Glu2422Ala)
c.7280A>C (p.Glu2427Ala)
c.1577A>C (p.Glu526Ala)
Xg.31774100C>ACA341073DMDc.2248G>T (p.Glu750Ter)
c.22G>T (p.Glu8Ter)
n.1063G>T
n.985G>T
n.894G>T
c.7402G>T (p.Glu2468Ter)
c.3370G>T (p.Glu1124Ter)
c.391G>T (p.Glu131Ter)
c.490G>T (p.Glu164Ter)
c.7390G>T (p.Glu2464Ter)
c.159G>T (n.159G>T)
c.7387G>T (p.Glu2463Ter)
c.7399G>T (p.Glu2467Ter)
c.7378G>T (p.Glu2460Ter)
c.7033G>T (p.Glu2345Ter)
c.3379G>T (p.Glu1127Ter)
c.7273G>T (p.Glu2425Ter)
c.7264G>T (p.Glu2422Ter)
c.7279G>T (p.Glu2427Ter)
c.1576G>T (p.Glu526Ter)
 ClinVar dbSNP
Xg.31774100C=CA2422548653DMDc.2248G= (p.Glu750=)
c.22G= (p.Glu8=)
n.1063G=
n.985G=
n.894G=
c.7402G= (p.Glu2468=)
c.3370G= (p.Glu1124=)
c.391G= (p.Glu131=)
c.490G= (p.Glu164=)
c.7390G= (p.Glu2464=)
c.159G= (n.159G=)
c.7387G= (p.Glu2463=)
c.7399G= (p.Glu2467=)
c.7378G= (p.Glu2460=)
c.7033G= (p.Glu2345=)
c.3379G= (p.Glu1127=)
c.7273G= (p.Glu2425=)
c.7264G= (p.Glu2422=)
c.7279G= (p.Glu2427=)
c.1576G= (p.Glu526=)
Xg.31774100C>GCA412659005DMDc.2248G>C (p.Glu750Gln)
c.22G>C (p.Glu8Gln)
n.1063G>C
n.985G>C
n.894G>C
c.7402G>C (p.Glu2468Gln)
c.3370G>C (p.Glu1124Gln)
c.391G>C (p.Glu131Gln)
c.490G>C (p.Glu164Gln)
c.7390G>C (p.Glu2464Gln)
c.159G>C (n.159G>C)
c.7387G>C (p.Glu2463Gln)
c.7399G>C (p.Glu2467Gln)
c.7378G>C (p.Glu2460Gln)
c.7033G>C (p.Glu2345Gln)
c.3379G>C (p.Glu1127Gln)
c.7273G>C (p.Glu2425Gln)
c.7264G>C (p.Glu2422Gln)
c.7279G>C (p.Glu2427Gln)
c.1576G>C (p.Glu526Gln)
 ClinVar dbSNP
Xg.31774100C>TCA412659006DMDc.2248G>A (p.Glu750Lys)
c.22G>A (p.Glu8Lys)
n.1063G>A
n.985G>A
n.894G>A
c.7402G>A (p.Glu2468Lys)
c.3370G>A (p.Glu1124Lys)
c.391G>A (p.Glu131Lys)
c.490G>A (p.Glu164Lys)
c.7390G>A (p.Glu2464Lys)
c.159G>A (n.159G>A)
c.7387G>A (p.Glu2463Lys)
c.7399G>A (p.Glu2467Lys)
c.7378G>A (p.Glu2460Lys)
c.7033G>A (p.Glu2345Lys)
c.3379G>A (p.Glu1127Lys)
c.7273G>A (p.Glu2425Lys)
c.7264G>A (p.Glu2422Lys)
c.7279G>A (p.Glu2427Lys)
c.1576G>A (p.Glu526Lys)
Xg.31774100_31774101delinsATCA2695232450DMDc.2247_2248delinsAT (p.Leu750Ter)
c.21_22delinsAT (p.Leu8Ter)
n.1062_1063delinsAT
n.984_985delinsAT
n.893_894delinsAT
c.7401_7402delinsAT (p.Leu2468Ter)
c.3369_3370delinsAT (p.Leu1124Ter)
c.390_391delinsAT (p.Leu131Ter)
c.489_490delinsAT (p.Leu164Ter)
c.7389_7390delinsAT (p.Leu2464Ter)
c.158_159delinsAT (n.158_159delinsAT)
c.7386_7387delinsAT (p.Leu2463Ter)
c.7398_7399delinsAT (p.Leu2467Ter)
c.7377_7378delinsAT (p.Leu2460Ter)
c.7032_7033delinsAT (p.Leu2345Ter)
c.3378_3379delinsAT (p.Leu1127Ter)
c.7272_7273delinsAT (p.Leu2425Ter)
c.7263_7264delinsAT (p.Leu2422Ter)
c.7278_7279delinsAT (p.Leu2427Ter)
c.1575_1576delinsAT (p.Leu526Ter)
Xg.31774101delCA1132108675DMDc.2248del (p.Glu750ArgfsTer26)
c.22del (p.Glu8ArgfsTer26)
n.1063del
n.985del
n.894del
c.7402del (p.Glu2468ArgfsTer26)
c.3370del (p.Glu1124ArgfsTer26)
c.391del (p.Glu131ArgfsTer26)
c.490del (p.Glu164ArgfsTer26)
c.7390del (p.Glu2464ArgfsTer26)
c.159del (n.159del)
c.7387del (p.Glu2463ArgfsTer26)
c.7399del (p.Glu2467ArgfsTer26)
c.7378del (p.Glu2460ArgfsTer26)
c.7033del (p.Glu2345ArgfsTer26)
c.3379del (p.Glu1127ArgfsTer26)
c.7273del (p.Glu2425ArgfsTer26)
c.7264del (p.Glu2422ArgfsTer26)
c.7279del (p.Glu2427ArgfsTer26)
c.1576del (p.Glu526ArgfsTer26)
 gnomAD v3 gnomAD v4
Xg.31774101C>ACA412659007DMDc.2247G>T (p.Leu749Phe)
c.21G>T (p.Leu7Phe)
n.1062G>T
n.984G>T
n.893G>T
c.7401G>T (p.Leu2467Phe)
c.3369G>T (p.Leu1123Phe)
c.390G>T (p.Leu130Phe)
c.489G>T (p.Leu163Phe)
c.7389G>T (p.Leu2463Phe)
c.158G>T (n.158G>T)
c.7386G>T (p.Leu2462Phe)
c.7398G>T (p.Leu2466Phe)
c.7377G>T (p.Leu2459Phe)
c.7032G>T (p.Leu2344Phe)
c.3378G>T (p.Leu1126Phe)
c.7272G>T (p.Leu2424Phe)
c.7263G>T (p.Leu2421Phe)
c.7278G>T (p.Leu2426Phe)
c.1575G>T (p.Leu525Phe)
Xg.31774101C>GCA412659008DMDc.2247G>C (p.Leu749Phe)
c.21G>C (p.Leu7Phe)
n.1062G>C
n.984G>C
n.893G>C
c.7401G>C (p.Leu2467Phe)
c.3369G>C (p.Leu1123Phe)
c.390G>C (p.Leu130Phe)
c.489G>C (p.Leu163Phe)
c.7389G>C (p.Leu2463Phe)
c.158G>C (n.158G>C)
c.7386G>C (p.Leu2462Phe)
c.7398G>C (p.Leu2466Phe)
c.7377G>C (p.Leu2459Phe)
c.7032G>C (p.Leu2344Phe)
c.3378G>C (p.Leu1126Phe)
c.7272G>C (p.Leu2424Phe)
c.7263G>C (p.Leu2421Phe)
c.7278G>C (p.Leu2426Phe)
c.1575G>C (p.Leu525Phe)
Xg.31774101C>TCA515859375DMDc.2247G>A (p.Leu749=)
c.21G>A (p.Leu7=)
n.1062G>A
n.984G>A
n.893G>A
c.7401G>A (p.Leu2467=)
c.3369G>A (p.Leu1123=)
c.390G>A (p.Leu130=)
c.489G>A (p.Leu163=)
c.7389G>A (p.Leu2463=)
c.158G>A (n.158G>A)
c.7386G>A (p.Leu2462=)
c.7398G>A (p.Leu2466=)
c.7377G>A (p.Leu2459=)
c.7032G>A (p.Leu2344=)
c.3378G>A (p.Leu1126=)
c.7272G>A (p.Leu2424=)
c.7263G>A (p.Leu2421=)
c.7278G>A (p.Leu2426=)
c.1575G>A (p.Leu525=)
Xg.31774102A=CA2422548654DMDc.2246T= (p.Leu749=)
c.20T= (p.Leu7=)
n.1061T=
n.983T=
n.892T=
c.7400T= (p.Leu2467=)
c.3368T= (p.Leu1123=)
c.389T= (p.Leu130=)
c.488T= (p.Leu163=)
c.7388T= (p.Leu2463=)
c.157T= (n.157T=)
c.7385T= (p.Leu2462=)
c.7397T= (p.Leu2466=)
c.7376T= (p.Leu2459=)
c.7031T= (p.Leu2344=)
c.3377T= (p.Leu1126=)
c.7271T= (p.Leu2424=)
c.7262T= (p.Leu2421=)
c.7277T= (p.Leu2426=)
c.1574T= (p.Leu525=)
Xg.31774102A>CCA412659009DMDc.2246T>G (p.Leu749Trp)
c.20T>G (p.Leu7Trp)
n.1061T>G
n.983T>G
n.892T>G
c.7400T>G (p.Leu2467Trp)
c.3368T>G (p.Leu1123Trp)
c.389T>G (p.Leu130Trp)
c.488T>G (p.Leu163Trp)
c.7388T>G (p.Leu2463Trp)
c.157T>G (n.157T>G)
c.7385T>G (p.Leu2462Trp)
c.7397T>G (p.Leu2466Trp)
c.7376T>G (p.Leu2459Trp)
c.7031T>G (p.Leu2344Trp)
c.3377T>G (p.Leu1126Trp)
c.7271T>G (p.Leu2424Trp)
c.7262T>G (p.Leu2421Trp)
c.7277T>G (p.Leu2426Trp)
c.1574T>G (p.Leu525Trp)
Xg.31774102A>GCA412659010DMDc.2246T>C (p.Leu749Ser)
c.20T>C (p.Leu7Ser)
n.1061T>C
n.983T>C
n.892T>C
c.7400T>C (p.Leu2467Ser)
c.3368T>C (p.Leu1123Ser)
c.389T>C (p.Leu130Ser)
c.488T>C (p.Leu163Ser)
c.7388T>C (p.Leu2463Ser)
c.157T>C (n.157T>C)
c.7385T>C (p.Leu2462Ser)
c.7397T>C (p.Leu2466Ser)
c.7376T>C (p.Leu2459Ser)
c.7031T>C (p.Leu2344Ser)
c.3377T>C (p.Leu1126Ser)
c.7271T>C (p.Leu2424Ser)
c.7262T>C (p.Leu2421Ser)
c.7277T>C (p.Leu2426Ser)
c.1574T>C (p.Leu525Ser)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774102A>TCA412659011DMDc.2246T>A (p.Leu749Ter)
c.20T>A (p.Leu7Ter)
n.1061T>A
n.983T>A
n.892T>A
c.7400T>A (p.Leu2467Ter)
c.3368T>A (p.Leu1123Ter)
c.389T>A (p.Leu130Ter)
c.488T>A (p.Leu163Ter)
c.7388T>A (p.Leu2463Ter)
c.157T>A (n.157T>A)
c.7385T>A (p.Leu2462Ter)
c.7397T>A (p.Leu2466Ter)
c.7376T>A (p.Leu2459Ter)
c.7031T>A (p.Leu2344Ter)
c.3377T>A (p.Leu1126Ter)
c.7271T>A (p.Leu2424Ter)
c.7262T>A (p.Leu2421Ter)
c.7277T>A (p.Leu2426Ter)
c.1574T>A (p.Leu525Ter)
 ClinVar dbSNP
Xg.31774103delCA2695232452DMDc.2246del (p.Leu749TrpfsTer27)
c.20del (p.Leu7TrpfsTer27)
n.1061del
n.983del
n.892del
c.7400del (p.Leu2467TrpfsTer27)
c.3368del (p.Leu1123TrpfsTer27)
c.389del (p.Leu130TrpfsTer27)
c.488del (p.Leu163TrpfsTer27)
c.7388del (p.Leu2463TrpfsTer27)
c.157del (n.157del)
c.7385del (p.Leu2462TrpfsTer27)
c.7397del (p.Leu2466TrpfsTer27)
c.7376del (p.Leu2459TrpfsTer27)
c.7031del (p.Leu2344TrpfsTer27)
c.3377del (p.Leu1126TrpfsTer27)
c.7271del (p.Leu2424TrpfsTer27)
c.7262del (p.Leu2421TrpfsTer27)
c.7277del (p.Leu2426TrpfsTer27)
c.1574del (p.Leu525TrpfsTer27)
Xg.31774103A>CCA412659012DMDc.2245T>G (p.Leu749Val)
c.19T>G (p.Leu7Val)
n.1060T>G
n.982T>G
n.891T>G
c.7399T>G (p.Leu2467Val)
c.3367T>G (p.Leu1123Val)
c.388T>G (p.Leu130Val)
c.487T>G (p.Leu163Val)
c.7387T>G (p.Leu2463Val)
c.156T>G (n.156T>G)
c.7384T>G (p.Leu2462Val)
c.7396T>G (p.Leu2466Val)
c.7375T>G (p.Leu2459Val)
c.7030T>G (p.Leu2344Val)
c.3376T>G (p.Leu1126Val)
c.7270T>G (p.Leu2424Val)
c.7261T>G (p.Leu2421Val)
c.7276T>G (p.Leu2426Val)
c.1573T>G (p.Leu525Val)
Xg.31774103A>GCA515859376DMDc.2245T>C (p.Leu749=)
c.19T>C (p.Leu7=)
n.1060T>C
n.982T>C
n.891T>C
c.7399T>C (p.Leu2467=)
c.3367T>C (p.Leu1123=)
c.388T>C (p.Leu130=)
c.487T>C (p.Leu163=)
c.7387T>C (p.Leu2463=)
c.156T>C (n.156T>C)
c.7384T>C (p.Leu2462=)
c.7396T>C (p.Leu2466=)
c.7375T>C (p.Leu2459=)
c.7030T>C (p.Leu2344=)
c.3376T>C (p.Leu1126=)
c.7270T>C (p.Leu2424=)
c.7261T>C (p.Leu2421=)
c.7276T>C (p.Leu2426=)
c.1573T>C (p.Leu525=)
 ClinVar
Xg.31774103A>TCA412659013DMDc.2245T>A (p.Leu749Met)
c.19T>A (p.Leu7Met)
n.1060T>A
n.982T>A
n.891T>A
c.7399T>A (p.Leu2467Met)
c.3367T>A (p.Leu1123Met)
c.388T>A (p.Leu130Met)
c.487T>A (p.Leu163Met)
c.7387T>A (p.Leu2463Met)
c.156T>A (n.156T>A)
c.7384T>A (p.Leu2462Met)
c.7396T>A (p.Leu2466Met)
c.7375T>A (p.Leu2459Met)
c.7030T>A (p.Leu2344Met)
c.3376T>A (p.Leu1126Met)
c.7270T>A (p.Leu2424Met)
c.7261T>A (p.Leu2421Met)
c.7276T>A (p.Leu2426Met)
c.1573T>A (p.Leu525Met)
Xg.31774104delCA2739268133DMDc.2244del (p.Met748IlefsTer28)
c.18del (p.Met6IlefsTer28)
n.1059del
n.981del
n.890del
c.7398del (p.Met2466IlefsTer28)
c.3366del (p.Met1122IlefsTer28)
c.387del (p.Met129IlefsTer28)
c.486del (p.Met162IlefsTer28)
c.7386del (p.Met2462IlefsTer28)
c.155del (n.155del)
c.7383del (p.Met2461IlefsTer28)
c.7395del (p.Met2465IlefsTer28)
c.7374del (p.Met2458IlefsTer28)
c.7029del (p.Met2343IlefsTer28)
c.3375del (p.Met1125IlefsTer28)
c.7269del (p.Met2423IlefsTer28)
c.7260del (p.Met2420IlefsTer28)
c.7275del (p.Met2425IlefsTer28)
c.1572del (p.Met524IlefsTer28)
 ClinVar
Xg.31774104C>ACA412659016DMDc.2244G>T (p.Met748Ile)
c.18G>T (p.Met6Ile)
n.1059G>T
n.981G>T
n.890G>T
c.7398G>T (p.Met2466Ile)
c.3366G>T (p.Met1122Ile)
c.387G>T (p.Met129Ile)
c.486G>T (p.Met162Ile)
c.7386G>T (p.Met2462Ile)
c.155G>T (n.155G>T)
c.7383G>T (p.Met2461Ile)
c.7395G>T (p.Met2465Ile)
c.7374G>T (p.Met2458Ile)
c.7029G>T (p.Met2343Ile)
c.3375G>T (p.Met1125Ile)
c.7269G>T (p.Met2423Ile)
c.7260G>T (p.Met2420Ile)
c.7275G>T (p.Met2425Ile)
c.1572G>T (p.Met524Ile)
Xg.31774104C>GCA412659014DMDc.2244G>C (p.Met748Ile)
c.18G>C (p.Met6Ile)
n.1059G>C
n.981G>C
n.890G>C
c.7398G>C (p.Met2466Ile)
c.3366G>C (p.Met1122Ile)
c.387G>C (p.Met129Ile)
c.486G>C (p.Met162Ile)
c.7386G>C (p.Met2462Ile)
c.155G>C (n.155G>C)
c.7383G>C (p.Met2461Ile)
c.7395G>C (p.Met2465Ile)
c.7374G>C (p.Met2458Ile)
c.7029G>C (p.Met2343Ile)
c.3375G>C (p.Met1125Ile)
c.7269G>C (p.Met2423Ile)
c.7260G>C (p.Met2420Ile)
c.7275G>C (p.Met2425Ile)
c.1572G>C (p.Met524Ile)
Xg.31774104C>TCA412659015DMDc.2244G>A (p.Met748Ile)
c.18G>A (p.Met6Ile)
n.1059G>A
n.981G>A
n.890G>A
c.7398G>A (p.Met2466Ile)
c.3366G>A (p.Met1122Ile)
c.387G>A (p.Met129Ile)
c.486G>A (p.Met162Ile)
c.7386G>A (p.Met2462Ile)
c.155G>A (n.155G>A)
c.7383G>A (p.Met2461Ile)
c.7395G>A (p.Met2465Ile)
c.7374G>A (p.Met2458Ile)
c.7029G>A (p.Met2343Ile)
c.3375G>A (p.Met1125Ile)
c.7269G>A (p.Met2423Ile)
c.7260G>A (p.Met2420Ile)
c.7275G>A (p.Met2425Ile)
c.1572G>A (p.Met524Ile)
Xg.31774105A=CA2422548655DMDc.2243T= (p.Met748=)
c.17T= (p.Met6=)
n.1058T=
n.980T=
n.889T=
c.7397T= (p.Met2466=)
c.3365T= (p.Met1122=)
c.386T= (p.Met129=)
c.485T= (p.Met162=)
c.7385T= (p.Met2462=)
c.154T= (n.154T=)
c.7382T= (p.Met2461=)
c.7394T= (p.Met2465=)
c.7373T= (p.Met2458=)
c.7028T= (p.Met2343=)
c.3374T= (p.Met1125=)
c.7268T= (p.Met2423=)
c.7259T= (p.Met2420=)
c.7274T= (p.Met2425=)
c.1571T= (p.Met524=)
Xg.31774105A>CCA412659017DMDc.2243T>G (p.Met748Arg)
c.17T>G (p.Met6Arg)
n.1058T>G
n.980T>G
n.889T>G
c.7397T>G (p.Met2466Arg)
c.3365T>G (p.Met1122Arg)
c.386T>G (p.Met129Arg)
c.485T>G (p.Met162Arg)
c.7385T>G (p.Met2462Arg)
c.154T>G (n.154T>G)
c.7382T>G (p.Met2461Arg)
c.7394T>G (p.Met2465Arg)
c.7373T>G (p.Met2458Arg)
c.7028T>G (p.Met2343Arg)
c.3374T>G (p.Met1125Arg)
c.7268T>G (p.Met2423Arg)
c.7259T>G (p.Met2420Arg)
c.7274T>G (p.Met2425Arg)
c.1571T>G (p.Met524Arg)
Xg.31774105A>GCA10378281DMDc.2243T>C (p.Met748Thr)
c.17T>C (p.Met6Thr)
n.1058T>C
n.980T>C
n.889T>C
c.7397T>C (p.Met2466Thr)
c.3365T>C (p.Met1122Thr)
c.386T>C (p.Met129Thr)
c.485T>C (p.Met162Thr)
c.7385T>C (p.Met2462Thr)
c.154T>C (n.154T>C)
c.7382T>C (p.Met2461Thr)
c.7394T>C (p.Met2465Thr)
c.7373T>C (p.Met2458Thr)
c.7028T>C (p.Met2343Thr)
c.3374T>C (p.Met1125Thr)
c.7268T>C (p.Met2423Thr)
c.7259T>C (p.Met2420Thr)
c.7274T>C (p.Met2425Thr)
c.1571T>C (p.Met524Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774105A>TCA412659018DMDc.2243T>A (p.Met748Lys)
c.17T>A (p.Met6Lys)
n.1058T>A
n.980T>A
n.889T>A
c.7397T>A (p.Met2466Lys)
c.3365T>A (p.Met1122Lys)
c.386T>A (p.Met129Lys)
c.485T>A (p.Met162Lys)
c.7385T>A (p.Met2462Lys)
c.154T>A (n.154T>A)
c.7382T>A (p.Met2461Lys)
c.7394T>A (p.Met2465Lys)
c.7373T>A (p.Met2458Lys)
c.7028T>A (p.Met2343Lys)
c.3374T>A (p.Met1125Lys)
c.7268T>A (p.Met2423Lys)
c.7259T>A (p.Met2420Lys)
c.7274T>A (p.Met2425Lys)
c.1571T>A (p.Met524Lys)
 gnomAD v4
Xg.31774106T>ACA412659019DMDc.2242A>T (p.Met748Leu)
c.16A>T (p.Met6Leu)
n.1057A>T
n.979A>T
n.888A>T
c.7396A>T (p.Met2466Leu)
c.3364A>T (p.Met1122Leu)
c.385A>T (p.Met129Leu)
c.484A>T (p.Met162Leu)
c.7384A>T (p.Met2462Leu)
c.153A>T (n.153A>T)
c.7381A>T (p.Met2461Leu)
c.7393A>T (p.Met2465Leu)
c.7372A>T (p.Met2458Leu)
c.7027A>T (p.Met2343Leu)
c.3373A>T (p.Met1125Leu)
c.7267A>T (p.Met2423Leu)
c.7258A>T (p.Met2420Leu)
c.7273A>T (p.Met2425Leu)
c.1570A>T (p.Met524Leu)
Xg.31774106T>CCA412659020DMDc.2242A>G (p.Met748Val)
c.16A>G (p.Met6Val)
n.1057A>G
n.979A>G
n.888A>G
c.7396A>G (p.Met2466Val)
c.3364A>G (p.Met1122Val)
c.385A>G (p.Met129Val)
c.484A>G (p.Met162Val)
c.7384A>G (p.Met2462Val)
c.153A>G (n.153A>G)
c.7381A>G (p.Met2461Val)
c.7393A>G (p.Met2465Val)
c.7372A>G (p.Met2458Val)
c.7027A>G (p.Met2343Val)
c.3373A>G (p.Met1125Val)
c.7267A>G (p.Met2423Val)
c.7258A>G (p.Met2420Val)
c.7273A>G (p.Met2425Val)
c.1570A>G (p.Met524Val)
Xg.31774106T>GCA412659021DMDc.2242A>C (p.Met748Leu)
c.16A>C (p.Met6Leu)
n.1057A>C
n.979A>C
n.888A>C
c.7396A>C (p.Met2466Leu)
c.3364A>C (p.Met1122Leu)
c.385A>C (p.Met129Leu)
c.484A>C (p.Met162Leu)
c.7384A>C (p.Met2462Leu)
c.153A>C (n.153A>C)
c.7381A>C (p.Met2461Leu)
c.7393A>C (p.Met2465Leu)
c.7372A>C (p.Met2458Leu)
c.7027A>C (p.Met2343Leu)
c.3373A>C (p.Met1125Leu)
c.7267A>C (p.Met2423Leu)
c.7258A>C (p.Met2420Leu)
c.7273A>C (p.Met2425Leu)
c.1570A>C (p.Met524Leu)
Xg.31774107delCA2580100608DMDc.2241del (p.Met748CysfsTer28)
c.15del (p.Met6CysfsTer28)
n.1056del
n.978del
n.887del
c.7395del (p.Met2466CysfsTer28)
c.3363del (p.Met1122CysfsTer28)
c.384del (p.Met129CysfsTer28)
c.483del (p.Met162CysfsTer28)
c.7383del (p.Met2462CysfsTer28)
c.152del (n.152del)
c.7380del (p.Met2461CysfsTer28)
c.7392del (p.Met2465CysfsTer28)
c.7371del (p.Met2458CysfsTer28)
c.7026del (p.Met2343CysfsTer28)
c.3372del (p.Met1125CysfsTer28)
c.7266del (p.Met2423CysfsTer28)
c.7257del (p.Met2420CysfsTer28)
c.7272del (p.Met2425CysfsTer28)
c.1569del (p.Met524CysfsTer28)
 ClinVar dbSNP
Xg.31774107C>ACA412659022DMDc.2241G>T (p.Leu747Phe)
c.15G>T (p.Leu5Phe)
n.1056G>T
n.978G>T
n.887G>T
c.7395G>T (p.Leu2465Phe)
c.3363G>T (p.Leu1121Phe)
c.384G>T (p.Leu128Phe)
c.483G>T (p.Leu161Phe)
c.7383G>T (p.Leu2461Phe)
c.152G>T (n.152G>T)
c.7380G>T (p.Leu2460Phe)
c.7392G>T (p.Leu2464Phe)
c.7371G>T (p.Leu2457Phe)
c.7026G>T (p.Leu2342Phe)
c.3372G>T (p.Leu1124Phe)
c.7266G>T (p.Leu2422Phe)
c.7257G>T (p.Leu2419Phe)
c.7272G>T (p.Leu2424Phe)
c.1569G>T (p.Leu523Phe)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774107C>GCA412659023DMDc.2241G>C (p.Leu747Phe)
c.15G>C (p.Leu5Phe)
n.1056G>C
n.978G>C
n.887G>C
c.7395G>C (p.Leu2465Phe)
c.3363G>C (p.Leu1121Phe)
c.384G>C (p.Leu128Phe)
c.483G>C (p.Leu161Phe)
c.7383G>C (p.Leu2461Phe)
c.152G>C (n.152G>C)
c.7380G>C (p.Leu2460Phe)
c.7392G>C (p.Leu2464Phe)
c.7371G>C (p.Leu2457Phe)
c.7026G>C (p.Leu2342Phe)
c.3372G>C (p.Leu1124Phe)
c.7266G>C (p.Leu2422Phe)
c.7257G>C (p.Leu2419Phe)
c.7272G>C (p.Leu2424Phe)
c.1569G>C (p.Leu523Phe)
Xg.31774107C>TCA515859377DMDc.2241G>A (p.Leu747=)
c.15G>A (p.Leu5=)
n.1056G>A
n.978G>A
n.887G>A
c.7395G>A (p.Leu2465=)
c.3363G>A (p.Leu1121=)
c.384G>A (p.Leu128=)
c.483G>A (p.Leu161=)
c.7383G>A (p.Leu2461=)
c.152G>A (n.152G>A)
c.7380G>A (p.Leu2460=)
c.7392G>A (p.Leu2464=)
c.7371G>A (p.Leu2457=)
c.7026G>A (p.Leu2342=)
c.3372G>A (p.Leu1124=)
c.7266G>A (p.Leu2422=)
c.7257G>A (p.Leu2419=)
c.7272G>A (p.Leu2424=)
c.1569G>A (p.Leu523=)
Xg.31774108A>CCA412659024DMDc.2240T>G (p.Leu747Trp)
c.14T>G (p.Leu5Trp)
n.1055T>G
n.977T>G
n.886T>G
c.7394T>G (p.Leu2465Trp)
c.3362T>G (p.Leu1121Trp)
c.383T>G (p.Leu128Trp)
c.482T>G (p.Leu161Trp)
c.7382T>G (p.Leu2461Trp)
c.151T>G (n.151T>G)
c.7379T>G (p.Leu2460Trp)
c.7391T>G (p.Leu2464Trp)
c.7370T>G (p.Leu2457Trp)
c.7025T>G (p.Leu2342Trp)
c.3371T>G (p.Leu1124Trp)
c.7265T>G (p.Leu2422Trp)
c.7256T>G (p.Leu2419Trp)
c.7271T>G (p.Leu2424Trp)
c.1568T>G (p.Leu523Trp)
Xg.31774108A>GCA412659025DMDc.2240T>C (p.Leu747Ser)
c.14T>C (p.Leu5Ser)
n.1055T>C
n.977T>C
n.886T>C
c.7394T>C (p.Leu2465Ser)
c.3362T>C (p.Leu1121Ser)
c.383T>C (p.Leu128Ser)
c.482T>C (p.Leu161Ser)
c.7382T>C (p.Leu2461Ser)
c.151T>C (n.151T>C)
c.7379T>C (p.Leu2460Ser)
c.7391T>C (p.Leu2464Ser)
c.7370T>C (p.Leu2457Ser)
c.7025T>C (p.Leu2342Ser)
c.3371T>C (p.Leu1124Ser)
c.7265T>C (p.Leu2422Ser)
c.7256T>C (p.Leu2419Ser)
c.7271T>C (p.Leu2424Ser)
c.1568T>C (p.Leu523Ser)
Xg.31774108A>TCA412659026DMDc.2240T>A (p.Leu747Ter)
c.14T>A (p.Leu5Ter)
n.1055T>A
n.977T>A
n.886T>A
c.7394T>A (p.Leu2465Ter)
c.3362T>A (p.Leu1121Ter)
c.383T>A (p.Leu128Ter)
c.482T>A (p.Leu161Ter)
c.7382T>A (p.Leu2461Ter)
c.151T>A (n.151T>A)
c.7379T>A (p.Leu2460Ter)
c.7391T>A (p.Leu2464Ter)
c.7370T>A (p.Leu2457Ter)
c.7025T>A (p.Leu2342Ter)
c.3371T>A (p.Leu1124Ter)
c.7265T>A (p.Leu2422Ter)
c.7256T>A (p.Leu2419Ter)
c.7271T>A (p.Leu2424Ter)
c.1568T>A (p.Leu523Ter)
Xg.31774111_31774114delCA2695232457DMDc.2237_2240del (p.Ser746Ter)
c.11_14del (p.Ser4Ter)
n.1052_1055del
n.974_977del
n.883_886del
c.7391_7394del (p.Ser2464Ter)
c.3359_3362del (p.Ser1120Ter)
c.380_383del (p.Ser127Ter)
c.479_482del (p.Ser160Ter)
c.7379_7382del (p.Ser2460Ter)
c.148_151del (n.148_151del)
c.7376_7379del (p.Ser2459Ter)
c.7388_7391del (p.Ser2463Ter)
c.7367_7370del (p.Ser2456Ter)
c.7022_7025del (p.Ser2341Ter)
c.3368_3371del (p.Ser1123Ter)
c.7262_7265del (p.Ser2421Ter)
c.7253_7256del (p.Ser2418Ter)
c.7268_7271del (p.Ser2423Ter)
c.1565_1568del (p.Ser522Ter)
Xg.31774109A>CCA412659027DMDc.2239T>G (p.Leu747Val)
c.13T>G (p.Leu5Val)
n.1054T>G
n.976T>G
n.885T>G
c.7393T>G (p.Leu2465Val)
c.3361T>G (p.Leu1121Val)
c.382T>G (p.Leu128Val)
c.481T>G (p.Leu161Val)
c.7381T>G (p.Leu2461Val)
c.150T>G (n.150T>G)
c.7378T>G (p.Leu2460Val)
c.7390T>G (p.Leu2464Val)
c.7369T>G (p.Leu2457Val)
c.7024T>G (p.Leu2342Val)
c.3370T>G (p.Leu1124Val)
c.7264T>G (p.Leu2422Val)
c.7255T>G (p.Leu2419Val)
c.7270T>G (p.Leu2424Val)
c.1567T>G (p.Leu523Val)
Xg.31774109A>GCA515859378DMDc.2239T>C (p.Leu747=)
c.13T>C (p.Leu5=)
n.1054T>C
n.976T>C
n.885T>C
c.7393T>C (p.Leu2465=)
c.3361T>C (p.Leu1121=)
c.382T>C (p.Leu128=)
c.481T>C (p.Leu161=)
c.7381T>C (p.Leu2461=)
c.150T>C (n.150T>C)
c.7378T>C (p.Leu2460=)
c.7390T>C (p.Leu2464=)
c.7369T>C (p.Leu2457=)
c.7024T>C (p.Leu2342=)
c.3370T>C (p.Leu1124=)
c.7264T>C (p.Leu2422=)
c.7255T>C (p.Leu2419=)
c.7270T>C (p.Leu2424=)
c.1567T>C (p.Leu523=)
 gnomAD v4
Xg.31774109A>TCA412659028DMDc.2239T>A (p.Leu747Met)
c.13T>A (p.Leu5Met)
n.1054T>A
n.976T>A
n.885T>A
c.7393T>A (p.Leu2465Met)
c.3361T>A (p.Leu1121Met)
c.382T>A (p.Leu128Met)
c.481T>A (p.Leu161Met)
c.7381T>A (p.Leu2461Met)
c.150T>A (n.150T>A)
c.7378T>A (p.Leu2460Met)
c.7390T>A (p.Leu2464Met)
c.7369T>A (p.Leu2457Met)
c.7024T>A (p.Leu2342Met)
c.3370T>A (p.Leu1124Met)
c.7264T>A (p.Leu2422Met)
c.7255T>A (p.Leu2419Met)
c.7270T>A (p.Leu2424Met)
c.1567T>A (p.Leu523Met)
Xg.31774110G>ACA515859379DMDc.2238C>T (p.Ser746=)
c.12C>T (p.Ser4=)
n.1053C>T
n.975C>T
n.884C>T
c.7392C>T (p.Ser2464=)
c.3360C>T (p.Ser1120=)
c.381C>T (p.Ser127=)
c.480C>T (p.Ser160=)
c.7380C>T (p.Ser2460=)
c.149C>T (n.149C>T)
c.7377C>T (p.Ser2459=)
c.7389C>T (p.Ser2463=)
c.7368C>T (p.Ser2456=)
c.7023C>T (p.Ser2341=)
c.3369C>T (p.Ser1123=)
c.7263C>T (p.Ser2421=)
c.7254C>T (p.Ser2418=)
c.7269C>T (p.Ser2423=)
c.1566C>T (p.Ser522=)
 ClinVar dbSNP
Xg.31774110G>CCA515859380DMDc.2238C>G (p.Ser746=)
c.12C>G (p.Ser4=)
n.1053C>G
n.975C>G
n.884C>G
c.7392C>G (p.Ser2464=)
c.3360C>G (p.Ser1120=)
c.381C>G (p.Ser127=)
c.480C>G (p.Ser160=)
c.7380C>G (p.Ser2460=)
c.149C>G (n.149C>G)
c.7377C>G (p.Ser2459=)
c.7389C>G (p.Ser2463=)
c.7368C>G (p.Ser2456=)
c.7023C>G (p.Ser2341=)
c.3369C>G (p.Ser1123=)
c.7263C>G (p.Ser2421=)
c.7254C>G (p.Ser2418=)
c.7269C>G (p.Ser2423=)
c.1566C>G (p.Ser522=)
Xg.31774110G=CA2422548656DMDc.2238C= (p.Ser746=)
c.12C= (p.Ser4=)
n.1053C=
n.975C=
n.884C=
c.7392C= (p.Ser2464=)
c.3360C= (p.Ser1120=)
c.381C= (p.Ser127=)
c.480C= (p.Ser160=)
c.7380C= (p.Ser2460=)
c.149C= (n.149C=)
c.7377C= (p.Ser2459=)
c.7389C= (p.Ser2463=)
c.7368C= (p.Ser2456=)
c.7023C= (p.Ser2341=)
c.3369C= (p.Ser1123=)
c.7263C= (p.Ser2421=)
c.7254C= (p.Ser2418=)
c.7269C= (p.Ser2423=)
c.1566C= (p.Ser522=)
Xg.31774110G>TCA515859381DMDc.2238C>A (p.Ser746=)
c.12C>A (p.Ser4=)
n.1053C>A
n.975C>A
n.884C>A
c.7392C>A (p.Ser2464=)
c.3360C>A (p.Ser1120=)
c.381C>A (p.Ser127=)
c.480C>A (p.Ser160=)
c.7380C>A (p.Ser2460=)
c.149C>A (n.149C>A)
c.7377C>A (p.Ser2459=)
c.7389C>A (p.Ser2463=)
c.7368C>A (p.Ser2456=)
c.7023C>A (p.Ser2341=)
c.3369C>A (p.Ser1123=)
c.7263C>A (p.Ser2421=)
c.7254C>A (p.Ser2418=)
c.7269C>A (p.Ser2423=)
c.1566C>A (p.Ser522=)
Xg.31774111G>ACA412659029DMDc.2237C>T (p.Ser746Phe)
c.11C>T (p.Ser4Phe)
n.1052C>T
n.974C>T
n.883C>T
c.7391C>T (p.Ser2464Phe)
c.3359C>T (p.Ser1120Phe)
c.380C>T (p.Ser127Phe)
c.479C>T (p.Ser160Phe)
c.7379C>T (p.Ser2460Phe)
c.148C>T (n.148C>T)
c.7376C>T (p.Ser2459Phe)
c.7388C>T (p.Ser2463Phe)
c.7367C>T (p.Ser2456Phe)
c.7022C>T (p.Ser2341Phe)
c.3368C>T (p.Ser1123Phe)
c.7262C>T (p.Ser2421Phe)
c.7253C>T (p.Ser2418Phe)
c.7268C>T (p.Ser2423Phe)
c.1565C>T (p.Ser522Phe)
 gnomAD v4
Xg.31774111G>CCA412659031DMDc.2237C>G (p.Ser746Cys)
c.11C>G (p.Ser4Cys)
n.1052C>G
n.974C>G
n.883C>G
c.7391C>G (p.Ser2464Cys)
c.3359C>G (p.Ser1120Cys)
c.380C>G (p.Ser127Cys)
c.479C>G (p.Ser160Cys)
c.7379C>G (p.Ser2460Cys)
c.148C>G (n.148C>G)
c.7376C>G (p.Ser2459Cys)
c.7388C>G (p.Ser2463Cys)
c.7367C>G (p.Ser2456Cys)
c.7022C>G (p.Ser2341Cys)
c.3368C>G (p.Ser1123Cys)
c.7262C>G (p.Ser2421Cys)
c.7253C>G (p.Ser2418Cys)
c.7268C>G (p.Ser2423Cys)
c.1565C>G (p.Ser522Cys)
Xg.31774111G>TCA412659030DMDc.2237C>A (p.Ser746Tyr)
c.11C>A (p.Ser4Tyr)
n.1052C>A
n.974C>A
n.883C>A
c.7391C>A (p.Ser2464Tyr)
c.3359C>A (p.Ser1120Tyr)
c.380C>A (p.Ser127Tyr)
c.479C>A (p.Ser160Tyr)
c.7379C>A (p.Ser2460Tyr)
c.148C>A (n.148C>A)
c.7376C>A (p.Ser2459Tyr)
c.7388C>A (p.Ser2463Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7022C>A (p.Ser2341Tyr)
c.3368C>A (p.Ser1123Tyr)
c.7262C>A (p.Ser2421Tyr)
c.7253C>A (p.Ser2418Tyr)
c.7268C>A (p.Ser2423Tyr)
c.1565C>A (p.Ser522Tyr)
Xg.31774111_31774112delinsATCA2580100609DMDc.2236_2237delinsAT (p.Ser746Ile)
c.10_11delinsAT (p.Ser4Ile)
n.1051_1052delinsAT
n.973_974delinsAT
n.882_883delinsAT
c.7390_7391delinsAT (p.Ser2464Ile)
c.3358_3359delinsAT (p.Ser1120Ile)
c.379_380delinsAT (p.Ser127Ile)
c.478_479delinsAT (p.Ser160Ile)
c.7378_7379delinsAT (p.Ser2460Ile)
c.147_148delinsAT (n.147_148delinsAT)
c.7375_7376delinsAT (p.Ser2459Ile)
c.7387_7388delinsAT (p.Ser2463Ile)
c.7366_7367delinsAT (p.Ser2456Ile)
c.7021_7022delinsAT (p.Ser2341Ile)
c.3367_3368delinsAT (p.Ser1123Ile)
c.7261_7262delinsAT (p.Ser2421Ile)
c.7252_7253delinsAT (p.Ser2418Ile)
c.7267_7268delinsAT (p.Ser2423Ile)
c.1564_1565delinsAT (p.Ser522Ile)
 ClinVar

Number of alleles fetched