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.31774104delCA2739268133DMDc.2244del (p.Met748IlefsTer28)
c.18del (p.Met6IlefsTer28)
n.1059del
n.981del
n.890del
c.7398del (p.Met2466IlefsTer28)
c.3366del (p.Met1122IlefsTer28)
c.387del (p.Met129IlefsTer28)
c.486del (p.Met162IlefsTer28)
c.7386del (p.Met2462IlefsTer28)
c.155del (n.155del)
c.7383del (p.Met2461IlefsTer28)
c.7395del (p.Met2465IlefsTer28)
c.7374del (p.Met2458IlefsTer28)
c.7029del (p.Met2343IlefsTer28)
c.3375del (p.Met1125IlefsTer28)
c.7269del (p.Met2423IlefsTer28)
c.7260del (p.Met2420IlefsTer28)
c.7275del (p.Met2425IlefsTer28)
c.1572del (p.Met524IlefsTer28)
 ClinVar
Xg.31774104C>ACA412659016DMDc.2244G>T (p.Met748Ile)
c.18G>T (p.Met6Ile)
n.1059G>T
n.981G>T
n.890G>T
c.7398G>T (p.Met2466Ile)
c.3366G>T (p.Met1122Ile)
c.387G>T (p.Met129Ile)
c.486G>T (p.Met162Ile)
c.7386G>T (p.Met2462Ile)
c.155G>T (n.155G>T)
c.7383G>T (p.Met2461Ile)
c.7395G>T (p.Met2465Ile)
c.7374G>T (p.Met2458Ile)
c.7029G>T (p.Met2343Ile)
c.3375G>T (p.Met1125Ile)
c.7269G>T (p.Met2423Ile)
c.7260G>T (p.Met2420Ile)
c.7275G>T (p.Met2425Ile)
c.1572G>T (p.Met524Ile)
Xg.31774104C>GCA412659014DMDc.2244G>C (p.Met748Ile)
c.18G>C (p.Met6Ile)
n.1059G>C
n.981G>C
n.890G>C
c.7398G>C (p.Met2466Ile)
c.3366G>C (p.Met1122Ile)
c.387G>C (p.Met129Ile)
c.486G>C (p.Met162Ile)
c.7386G>C (p.Met2462Ile)
c.155G>C (n.155G>C)
c.7383G>C (p.Met2461Ile)
c.7395G>C (p.Met2465Ile)
c.7374G>C (p.Met2458Ile)
c.7029G>C (p.Met2343Ile)
c.3375G>C (p.Met1125Ile)
c.7269G>C (p.Met2423Ile)
c.7260G>C (p.Met2420Ile)
c.7275G>C (p.Met2425Ile)
c.1572G>C (p.Met524Ile)
Xg.31774104C>TCA412659015DMDc.2244G>A (p.Met748Ile)
c.18G>A (p.Met6Ile)
n.1059G>A
n.981G>A
n.890G>A
c.7398G>A (p.Met2466Ile)
c.3366G>A (p.Met1122Ile)
c.387G>A (p.Met129Ile)
c.486G>A (p.Met162Ile)
c.7386G>A (p.Met2462Ile)
c.155G>A (n.155G>A)
c.7383G>A (p.Met2461Ile)
c.7395G>A (p.Met2465Ile)
c.7374G>A (p.Met2458Ile)
c.7029G>A (p.Met2343Ile)
c.3375G>A (p.Met1125Ile)
c.7269G>A (p.Met2423Ile)
c.7260G>A (p.Met2420Ile)
c.7275G>A (p.Met2425Ile)
c.1572G>A (p.Met524Ile)
Xg.31774105A=CA2422548655DMDc.2243T= (p.Met748=)
c.17T= (p.Met6=)
n.1058T=
n.980T=
n.889T=
c.7397T= (p.Met2466=)
c.3365T= (p.Met1122=)
c.386T= (p.Met129=)
c.485T= (p.Met162=)
c.7385T= (p.Met2462=)
c.154T= (n.154T=)
c.7382T= (p.Met2461=)
c.7394T= (p.Met2465=)
c.7373T= (p.Met2458=)
c.7028T= (p.Met2343=)
c.3374T= (p.Met1125=)
c.7268T= (p.Met2423=)
c.7259T= (p.Met2420=)
c.7274T= (p.Met2425=)
c.1571T= (p.Met524=)
Xg.31774105A>CCA412659017DMDc.2243T>G (p.Met748Arg)
c.17T>G (p.Met6Arg)
n.1058T>G
n.980T>G
n.889T>G
c.7397T>G (p.Met2466Arg)
c.3365T>G (p.Met1122Arg)
c.386T>G (p.Met129Arg)
c.485T>G (p.Met162Arg)
c.7385T>G (p.Met2462Arg)
c.154T>G (n.154T>G)
c.7382T>G (p.Met2461Arg)
c.7394T>G (p.Met2465Arg)
c.7373T>G (p.Met2458Arg)
c.7028T>G (p.Met2343Arg)
c.3374T>G (p.Met1125Arg)
c.7268T>G (p.Met2423Arg)
c.7259T>G (p.Met2420Arg)
c.7274T>G (p.Met2425Arg)
c.1571T>G (p.Met524Arg)
Xg.31774105A>GCA10378281DMDc.2243T>C (p.Met748Thr)
c.17T>C (p.Met6Thr)
n.1058T>C
n.980T>C
n.889T>C
c.7397T>C (p.Met2466Thr)
c.3365T>C (p.Met1122Thr)
c.386T>C (p.Met129Thr)
c.485T>C (p.Met162Thr)
c.7385T>C (p.Met2462Thr)
c.154T>C (n.154T>C)
c.7382T>C (p.Met2461Thr)
c.7394T>C (p.Met2465Thr)
c.7373T>C (p.Met2458Thr)
c.7028T>C (p.Met2343Thr)
c.3374T>C (p.Met1125Thr)
c.7268T>C (p.Met2423Thr)
c.7259T>C (p.Met2420Thr)
c.7274T>C (p.Met2425Thr)
c.1571T>C (p.Met524Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774105A>TCA412659018DMDc.2243T>A (p.Met748Lys)
c.17T>A (p.Met6Lys)
n.1058T>A
n.980T>A
n.889T>A
c.7397T>A (p.Met2466Lys)
c.3365T>A (p.Met1122Lys)
c.386T>A (p.Met129Lys)
c.485T>A (p.Met162Lys)
c.7385T>A (p.Met2462Lys)
c.154T>A (n.154T>A)
c.7382T>A (p.Met2461Lys)
c.7394T>A (p.Met2465Lys)
c.7373T>A (p.Met2458Lys)
c.7028T>A (p.Met2343Lys)
c.3374T>A (p.Met1125Lys)
c.7268T>A (p.Met2423Lys)
c.7259T>A (p.Met2420Lys)
c.7274T>A (p.Met2425Lys)
c.1571T>A (p.Met524Lys)
 gnomAD v4
Xg.31774106T>ACA412659019DMDc.2242A>T (p.Met748Leu)
c.16A>T (p.Met6Leu)
n.1057A>T
n.979A>T
n.888A>T
c.7396A>T (p.Met2466Leu)
c.3364A>T (p.Met1122Leu)
c.385A>T (p.Met129Leu)
c.484A>T (p.Met162Leu)
c.7384A>T (p.Met2462Leu)
c.153A>T (n.153A>T)
c.7381A>T (p.Met2461Leu)
c.7393A>T (p.Met2465Leu)
c.7372A>T (p.Met2458Leu)
c.7027A>T (p.Met2343Leu)
c.3373A>T (p.Met1125Leu)
c.7267A>T (p.Met2423Leu)
c.7258A>T (p.Met2420Leu)
c.7273A>T (p.Met2425Leu)
c.1570A>T (p.Met524Leu)
Xg.31774106T>CCA412659020DMDc.2242A>G (p.Met748Val)
c.16A>G (p.Met6Val)
n.1057A>G
n.979A>G
n.888A>G
c.7396A>G (p.Met2466Val)
c.3364A>G (p.Met1122Val)
c.385A>G (p.Met129Val)
c.484A>G (p.Met162Val)
c.7384A>G (p.Met2462Val)
c.153A>G (n.153A>G)
c.7381A>G (p.Met2461Val)
c.7393A>G (p.Met2465Val)
c.7372A>G (p.Met2458Val)
c.7027A>G (p.Met2343Val)
c.3373A>G (p.Met1125Val)
c.7267A>G (p.Met2423Val)
c.7258A>G (p.Met2420Val)
c.7273A>G (p.Met2425Val)
c.1570A>G (p.Met524Val)
Xg.31774106T>GCA412659021DMDc.2242A>C (p.Met748Leu)
c.16A>C (p.Met6Leu)
n.1057A>C
n.979A>C
n.888A>C
c.7396A>C (p.Met2466Leu)
c.3364A>C (p.Met1122Leu)
c.385A>C (p.Met129Leu)
c.484A>C (p.Met162Leu)
c.7384A>C (p.Met2462Leu)
c.153A>C (n.153A>C)
c.7381A>C (p.Met2461Leu)
c.7393A>C (p.Met2465Leu)
c.7372A>C (p.Met2458Leu)
c.7027A>C (p.Met2343Leu)
c.3373A>C (p.Met1125Leu)
c.7267A>C (p.Met2423Leu)
c.7258A>C (p.Met2420Leu)
c.7273A>C (p.Met2425Leu)
c.1570A>C (p.Met524Leu)
Xg.31774107delCA2580100608DMDc.2241del (p.Met748CysfsTer28)
c.15del (p.Met6CysfsTer28)
n.1056del
n.978del
n.887del
c.7395del (p.Met2466CysfsTer28)
c.3363del (p.Met1122CysfsTer28)
c.384del (p.Met129CysfsTer28)
c.483del (p.Met162CysfsTer28)
c.7383del (p.Met2462CysfsTer28)
c.152del (n.152del)
c.7380del (p.Met2461CysfsTer28)
c.7392del (p.Met2465CysfsTer28)
c.7371del (p.Met2458CysfsTer28)
c.7026del (p.Met2343CysfsTer28)
c.3372del (p.Met1125CysfsTer28)
c.7266del (p.Met2423CysfsTer28)
c.7257del (p.Met2420CysfsTer28)
c.7272del (p.Met2425CysfsTer28)
c.1569del (p.Met524CysfsTer28)
 ClinVar dbSNP
Xg.31774107C>ACA412659022DMDc.2241G>T (p.Leu747Phe)
c.15G>T (p.Leu5Phe)
n.1056G>T
n.978G>T
n.887G>T
c.7395G>T (p.Leu2465Phe)
c.3363G>T (p.Leu1121Phe)
c.384G>T (p.Leu128Phe)
c.483G>T (p.Leu161Phe)
c.7383G>T (p.Leu2461Phe)
c.152G>T (n.152G>T)
c.7380G>T (p.Leu2460Phe)
c.7392G>T (p.Leu2464Phe)
c.7371G>T (p.Leu2457Phe)
c.7026G>T (p.Leu2342Phe)
c.3372G>T (p.Leu1124Phe)
c.7266G>T (p.Leu2422Phe)
c.7257G>T (p.Leu2419Phe)
c.7272G>T (p.Leu2424Phe)
c.1569G>T (p.Leu523Phe)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774107C>GCA412659023DMDc.2241G>C (p.Leu747Phe)
c.15G>C (p.Leu5Phe)
n.1056G>C
n.978G>C
n.887G>C
c.7395G>C (p.Leu2465Phe)
c.3363G>C (p.Leu1121Phe)
c.384G>C (p.Leu128Phe)
c.483G>C (p.Leu161Phe)
c.7383G>C (p.Leu2461Phe)
c.152G>C (n.152G>C)
c.7380G>C (p.Leu2460Phe)
c.7392G>C (p.Leu2464Phe)
c.7371G>C (p.Leu2457Phe)
c.7026G>C (p.Leu2342Phe)
c.3372G>C (p.Leu1124Phe)
c.7266G>C (p.Leu2422Phe)
c.7257G>C (p.Leu2419Phe)
c.7272G>C (p.Leu2424Phe)
c.1569G>C (p.Leu523Phe)
Xg.31774107C>TCA515859377DMDc.2241G>A (p.Leu747=)
c.15G>A (p.Leu5=)
n.1056G>A
n.978G>A
n.887G>A
c.7395G>A (p.Leu2465=)
c.3363G>A (p.Leu1121=)
c.384G>A (p.Leu128=)
c.483G>A (p.Leu161=)
c.7383G>A (p.Leu2461=)
c.152G>A (n.152G>A)
c.7380G>A (p.Leu2460=)
c.7392G>A (p.Leu2464=)
c.7371G>A (p.Leu2457=)
c.7026G>A (p.Leu2342=)
c.3372G>A (p.Leu1124=)
c.7266G>A (p.Leu2422=)
c.7257G>A (p.Leu2419=)
c.7272G>A (p.Leu2424=)
c.1569G>A (p.Leu523=)
Xg.31774108A>CCA412659024DMDc.2240T>G (p.Leu747Trp)
c.14T>G (p.Leu5Trp)
n.1055T>G
n.977T>G
n.886T>G
c.7394T>G (p.Leu2465Trp)
c.3362T>G (p.Leu1121Trp)
c.383T>G (p.Leu128Trp)
c.482T>G (p.Leu161Trp)
c.7382T>G (p.Leu2461Trp)
c.151T>G (n.151T>G)
c.7379T>G (p.Leu2460Trp)
c.7391T>G (p.Leu2464Trp)
c.7370T>G (p.Leu2457Trp)
c.7025T>G (p.Leu2342Trp)
c.3371T>G (p.Leu1124Trp)
c.7265T>G (p.Leu2422Trp)
c.7256T>G (p.Leu2419Trp)
c.7271T>G (p.Leu2424Trp)
c.1568T>G (p.Leu523Trp)
Xg.31774108A>GCA412659025DMDc.2240T>C (p.Leu747Ser)
c.14T>C (p.Leu5Ser)
n.1055T>C
n.977T>C
n.886T>C
c.7394T>C (p.Leu2465Ser)
c.3362T>C (p.Leu1121Ser)
c.383T>C (p.Leu128Ser)
c.482T>C (p.Leu161Ser)
c.7382T>C (p.Leu2461Ser)
c.151T>C (n.151T>C)
c.7379T>C (p.Leu2460Ser)
c.7391T>C (p.Leu2464Ser)
c.7370T>C (p.Leu2457Ser)
c.7025T>C (p.Leu2342Ser)
c.3371T>C (p.Leu1124Ser)
c.7265T>C (p.Leu2422Ser)
c.7256T>C (p.Leu2419Ser)
c.7271T>C (p.Leu2424Ser)
c.1568T>C (p.Leu523Ser)
Xg.31774108A>TCA412659026DMDc.2240T>A (p.Leu747Ter)
c.14T>A (p.Leu5Ter)
n.1055T>A
n.977T>A
n.886T>A
c.7394T>A (p.Leu2465Ter)
c.3362T>A (p.Leu1121Ter)
c.383T>A (p.Leu128Ter)
c.482T>A (p.Leu161Ter)
c.7382T>A (p.Leu2461Ter)
c.151T>A (n.151T>A)
c.7379T>A (p.Leu2460Ter)
c.7391T>A (p.Leu2464Ter)
c.7370T>A (p.Leu2457Ter)
c.7025T>A (p.Leu2342Ter)
c.3371T>A (p.Leu1124Ter)
c.7265T>A (p.Leu2422Ter)
c.7256T>A (p.Leu2419Ter)
c.7271T>A (p.Leu2424Ter)
c.1568T>A (p.Leu523Ter)
Xg.31774111_31774114delCA2695232457DMDc.2237_2240del (p.Ser746Ter)
c.11_14del (p.Ser4Ter)
n.1052_1055del
n.974_977del
n.883_886del
c.7391_7394del (p.Ser2464Ter)
c.3359_3362del (p.Ser1120Ter)
c.380_383del (p.Ser127Ter)
c.479_482del (p.Ser160Ter)
c.7379_7382del (p.Ser2460Ter)
c.148_151del (n.148_151del)
c.7376_7379del (p.Ser2459Ter)
c.7388_7391del (p.Ser2463Ter)
c.7367_7370del (p.Ser2456Ter)
c.7022_7025del (p.Ser2341Ter)
c.3368_3371del (p.Ser1123Ter)
c.7262_7265del (p.Ser2421Ter)
c.7253_7256del (p.Ser2418Ter)
c.7268_7271del (p.Ser2423Ter)
c.1565_1568del (p.Ser522Ter)
Xg.31774109A>CCA412659027DMDc.2239T>G (p.Leu747Val)
c.13T>G (p.Leu5Val)
n.1054T>G
n.976T>G
n.885T>G
c.7393T>G (p.Leu2465Val)
c.3361T>G (p.Leu1121Val)
c.382T>G (p.Leu128Val)
c.481T>G (p.Leu161Val)
c.7381T>G (p.Leu2461Val)
c.150T>G (n.150T>G)
c.7378T>G (p.Leu2460Val)
c.7390T>G (p.Leu2464Val)
c.7369T>G (p.Leu2457Val)
c.7024T>G (p.Leu2342Val)
c.3370T>G (p.Leu1124Val)
c.7264T>G (p.Leu2422Val)
c.7255T>G (p.Leu2419Val)
c.7270T>G (p.Leu2424Val)
c.1567T>G (p.Leu523Val)
Xg.31774109A>GCA515859378DMDc.2239T>C (p.Leu747=)
c.13T>C (p.Leu5=)
n.1054T>C
n.976T>C
n.885T>C
c.7393T>C (p.Leu2465=)
c.3361T>C (p.Leu1121=)
c.382T>C (p.Leu128=)
c.481T>C (p.Leu161=)
c.7381T>C (p.Leu2461=)
c.150T>C (n.150T>C)
c.7378T>C (p.Leu2460=)
c.7390T>C (p.Leu2464=)
c.7369T>C (p.Leu2457=)
c.7024T>C (p.Leu2342=)
c.3370T>C (p.Leu1124=)
c.7264T>C (p.Leu2422=)
c.7255T>C (p.Leu2419=)
c.7270T>C (p.Leu2424=)
c.1567T>C (p.Leu523=)
 gnomAD v4
Xg.31774109A>TCA412659028DMDc.2239T>A (p.Leu747Met)
c.13T>A (p.Leu5Met)
n.1054T>A
n.976T>A
n.885T>A
c.7393T>A (p.Leu2465Met)
c.3361T>A (p.Leu1121Met)
c.382T>A (p.Leu128Met)
c.481T>A (p.Leu161Met)
c.7381T>A (p.Leu2461Met)
c.150T>A (n.150T>A)
c.7378T>A (p.Leu2460Met)
c.7390T>A (p.Leu2464Met)
c.7369T>A (p.Leu2457Met)
c.7024T>A (p.Leu2342Met)
c.3370T>A (p.Leu1124Met)
c.7264T>A (p.Leu2422Met)
c.7255T>A (p.Leu2419Met)
c.7270T>A (p.Leu2424Met)
c.1567T>A (p.Leu523Met)
Xg.31774110G>ACA515859379DMDc.2238C>T (p.Ser746=)
c.12C>T (p.Ser4=)
n.1053C>T
n.975C>T
n.884C>T
c.7392C>T (p.Ser2464=)
c.3360C>T (p.Ser1120=)
c.381C>T (p.Ser127=)
c.480C>T (p.Ser160=)
c.7380C>T (p.Ser2460=)
c.149C>T (n.149C>T)
c.7377C>T (p.Ser2459=)
c.7389C>T (p.Ser2463=)
c.7368C>T (p.Ser2456=)
c.7023C>T (p.Ser2341=)
c.3369C>T (p.Ser1123=)
c.7263C>T (p.Ser2421=)
c.7254C>T (p.Ser2418=)
c.7269C>T (p.Ser2423=)
c.1566C>T (p.Ser522=)
 ClinVar dbSNP
Xg.31774110G>CCA515859380DMDc.2238C>G (p.Ser746=)
c.12C>G (p.Ser4=)
n.1053C>G
n.975C>G
n.884C>G
c.7392C>G (p.Ser2464=)
c.3360C>G (p.Ser1120=)
c.381C>G (p.Ser127=)
c.480C>G (p.Ser160=)
c.7380C>G (p.Ser2460=)
c.149C>G (n.149C>G)
c.7377C>G (p.Ser2459=)
c.7389C>G (p.Ser2463=)
c.7368C>G (p.Ser2456=)
c.7023C>G (p.Ser2341=)
c.3369C>G (p.Ser1123=)
c.7263C>G (p.Ser2421=)
c.7254C>G (p.Ser2418=)
c.7269C>G (p.Ser2423=)
c.1566C>G (p.Ser522=)
Xg.31774110G=CA2422548656DMDc.2238C= (p.Ser746=)
c.12C= (p.Ser4=)
n.1053C=
n.975C=
n.884C=
c.7392C= (p.Ser2464=)
c.3360C= (p.Ser1120=)
c.381C= (p.Ser127=)
c.480C= (p.Ser160=)
c.7380C= (p.Ser2460=)
c.149C= (n.149C=)
c.7377C= (p.Ser2459=)
c.7389C= (p.Ser2463=)
c.7368C= (p.Ser2456=)
c.7023C= (p.Ser2341=)
c.3369C= (p.Ser1123=)
c.7263C= (p.Ser2421=)
c.7254C= (p.Ser2418=)
c.7269C= (p.Ser2423=)
c.1566C= (p.Ser522=)
Xg.31774110G>TCA515859381DMDc.2238C>A (p.Ser746=)
c.12C>A (p.Ser4=)
n.1053C>A
n.975C>A
n.884C>A
c.7392C>A (p.Ser2464=)
c.3360C>A (p.Ser1120=)
c.381C>A (p.Ser127=)
c.480C>A (p.Ser160=)
c.7380C>A (p.Ser2460=)
c.149C>A (n.149C>A)
c.7377C>A (p.Ser2459=)
c.7389C>A (p.Ser2463=)
c.7368C>A (p.Ser2456=)
c.7023C>A (p.Ser2341=)
c.3369C>A (p.Ser1123=)
c.7263C>A (p.Ser2421=)
c.7254C>A (p.Ser2418=)
c.7269C>A (p.Ser2423=)
c.1566C>A (p.Ser522=)
Xg.31774111G>ACA412659029DMDc.2237C>T (p.Ser746Phe)
c.11C>T (p.Ser4Phe)
n.1052C>T
n.974C>T
n.883C>T
c.7391C>T (p.Ser2464Phe)
c.3359C>T (p.Ser1120Phe)
c.380C>T (p.Ser127Phe)
c.479C>T (p.Ser160Phe)
c.7379C>T (p.Ser2460Phe)
c.148C>T (n.148C>T)
c.7376C>T (p.Ser2459Phe)
c.7388C>T (p.Ser2463Phe)
c.7367C>T (p.Ser2456Phe)
c.7022C>T (p.Ser2341Phe)
c.3368C>T (p.Ser1123Phe)
c.7262C>T (p.Ser2421Phe)
c.7253C>T (p.Ser2418Phe)
c.7268C>T (p.Ser2423Phe)
c.1565C>T (p.Ser522Phe)
 gnomAD v4
Xg.31774111G>CCA412659031DMDc.2237C>G (p.Ser746Cys)
c.11C>G (p.Ser4Cys)
n.1052C>G
n.974C>G
n.883C>G
c.7391C>G (p.Ser2464Cys)
c.3359C>G (p.Ser1120Cys)
c.380C>G (p.Ser127Cys)
c.479C>G (p.Ser160Cys)
c.7379C>G (p.Ser2460Cys)
c.148C>G (n.148C>G)
c.7376C>G (p.Ser2459Cys)
c.7388C>G (p.Ser2463Cys)
c.7367C>G (p.Ser2456Cys)
c.7022C>G (p.Ser2341Cys)
c.3368C>G (p.Ser1123Cys)
c.7262C>G (p.Ser2421Cys)
c.7253C>G (p.Ser2418Cys)
c.7268C>G (p.Ser2423Cys)
c.1565C>G (p.Ser522Cys)
Xg.31774111G>TCA412659030DMDc.2237C>A (p.Ser746Tyr)
c.11C>A (p.Ser4Tyr)
n.1052C>A
n.974C>A
n.883C>A
c.7391C>A (p.Ser2464Tyr)
c.3359C>A (p.Ser1120Tyr)
c.380C>A (p.Ser127Tyr)
c.479C>A (p.Ser160Tyr)
c.7379C>A (p.Ser2460Tyr)
c.148C>A (n.148C>A)
c.7376C>A (p.Ser2459Tyr)
c.7388C>A (p.Ser2463Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7022C>A (p.Ser2341Tyr)
c.3368C>A (p.Ser1123Tyr)
c.7262C>A (p.Ser2421Tyr)
c.7253C>A (p.Ser2418Tyr)
c.7268C>A (p.Ser2423Tyr)
c.1565C>A (p.Ser522Tyr)
Xg.31774111_31774112delinsATCA2580100609DMDc.2236_2237delinsAT (p.Ser746Ile)
c.10_11delinsAT (p.Ser4Ile)
n.1051_1052delinsAT
n.973_974delinsAT
n.882_883delinsAT
c.7390_7391delinsAT (p.Ser2464Ile)
c.3358_3359delinsAT (p.Ser1120Ile)
c.379_380delinsAT (p.Ser127Ile)
c.478_479delinsAT (p.Ser160Ile)
c.7378_7379delinsAT (p.Ser2460Ile)
c.147_148delinsAT (n.147_148delinsAT)
c.7375_7376delinsAT (p.Ser2459Ile)
c.7387_7388delinsAT (p.Ser2463Ile)
c.7366_7367delinsAT (p.Ser2456Ile)
c.7021_7022delinsAT (p.Ser2341Ile)
c.3367_3368delinsAT (p.Ser1123Ile)
c.7261_7262delinsAT (p.Ser2421Ile)
c.7252_7253delinsAT (p.Ser2418Ile)
c.7267_7268delinsAT (p.Ser2423Ile)
c.1564_1565delinsAT (p.Ser522Ile)
 ClinVar
Xg.31774112A>CCA412659032DMDc.2236T>G (p.Ser746Ala)
c.10T>G (p.Ser4Ala)
n.1051T>G
n.973T>G
n.882T>G
c.7390T>G (p.Ser2464Ala)
c.3358T>G (p.Ser1120Ala)
c.379T>G (p.Ser127Ala)
c.478T>G (p.Ser160Ala)
c.7378T>G (p.Ser2460Ala)
c.147T>G (n.147T>G)
c.7375T>G (p.Ser2459Ala)
c.7387T>G (p.Ser2463Ala)
c.7366T>G (p.Ser2456Ala)
c.7021T>G (p.Ser2341Ala)
c.3367T>G (p.Ser1123Ala)
c.7261T>G (p.Ser2421Ala)
c.7252T>G (p.Ser2418Ala)
c.7267T>G (p.Ser2423Ala)
c.1564T>G (p.Ser522Ala)
Xg.31774112A>GCA412659033DMDc.2236T>C (p.Ser746Pro)
c.10T>C (p.Ser4Pro)
n.1051T>C
n.973T>C
n.882T>C
c.7390T>C (p.Ser2464Pro)
c.3358T>C (p.Ser1120Pro)
c.379T>C (p.Ser127Pro)
c.478T>C (p.Ser160Pro)
c.7378T>C (p.Ser2460Pro)
c.147T>C (n.147T>C)
c.7375T>C (p.Ser2459Pro)
c.7387T>C (p.Ser2463Pro)
c.7366T>C (p.Ser2456Pro)
c.7021T>C (p.Ser2341Pro)
c.3367T>C (p.Ser1123Pro)
c.7261T>C (p.Ser2421Pro)
c.7252T>C (p.Ser2418Pro)
c.7267T>C (p.Ser2423Pro)
c.1564T>C (p.Ser522Pro)
Xg.31774112A>TCA412659034DMDc.2236T>A (p.Ser746Thr)
c.10T>A (p.Ser4Thr)
n.1051T>A
n.973T>A
n.882T>A
c.7390T>A (p.Ser2464Thr)
c.3358T>A (p.Ser1120Thr)
c.379T>A (p.Ser127Thr)
c.478T>A (p.Ser160Thr)
c.7378T>A (p.Ser2460Thr)
c.147T>A (n.147T>A)
c.7375T>A (p.Ser2459Thr)
c.7387T>A (p.Ser2463Thr)
c.7366T>A (p.Ser2456Thr)
c.7021T>A (p.Ser2341Thr)
c.3367T>A (p.Ser1123Thr)
c.7261T>A (p.Ser2421Thr)
c.7252T>A (p.Ser2418Thr)
c.7267T>A (p.Ser2423Thr)
c.1564T>A (p.Ser522Thr)
 gnomAD v4
Xg.31774113A>CCA515859382DMDc.2235T>G (p.Ser745=)
c.9T>G (p.Ser3=)
n.1050T>G
n.972T>G
n.881T>G
c.7389T>G (p.Ser2463=)
c.3357T>G (p.Ser1119=)
c.378T>G (p.Ser126=)
c.477T>G (p.Ser159=)
c.7377T>G (p.Ser2459=)
c.146T>G (n.146T>G)
c.7374T>G (p.Ser2458=)
c.7386T>G (p.Ser2462=)
c.7365T>G (p.Ser2455=)
c.7020T>G (p.Ser2340=)
c.3366T>G (p.Ser1122=)
c.7260T>G (p.Ser2420=)
c.7251T>G (p.Ser2417=)
c.7266T>G (p.Ser2422=)
c.1563T>G (p.Ser521=)
Xg.31774113A>GCA515859383DMDc.2235T>C (p.Ser745=)
c.9T>C (p.Ser3=)
n.1050T>C
n.972T>C
n.881T>C
c.7389T>C (p.Ser2463=)
c.3357T>C (p.Ser1119=)
c.378T>C (p.Ser126=)
c.477T>C (p.Ser159=)
c.7377T>C (p.Ser2459=)
c.146T>C (n.146T>C)
c.7374T>C (p.Ser2458=)
c.7386T>C (p.Ser2462=)
c.7365T>C (p.Ser2455=)
c.7020T>C (p.Ser2340=)
c.3366T>C (p.Ser1122=)
c.7260T>C (p.Ser2420=)
c.7251T>C (p.Ser2417=)
c.7266T>C (p.Ser2422=)
c.1563T>C (p.Ser521=)
Xg.31774113A>TCA515859384DMDc.2235T>A (p.Ser745=)
c.9T>A (p.Ser3=)
n.1050T>A
n.972T>A
n.881T>A
c.7389T>A (p.Ser2463=)
c.3357T>A (p.Ser1119=)
c.378T>A (p.Ser126=)
c.477T>A (p.Ser159=)
c.7377T>A (p.Ser2459=)
c.146T>A (n.146T>A)
c.7374T>A (p.Ser2458=)
c.7386T>A (p.Ser2462=)
c.7365T>A (p.Ser2455=)
c.7020T>A (p.Ser2340=)
c.3366T>A (p.Ser1122=)
c.7260T>A (p.Ser2420=)
c.7251T>A (p.Ser2417=)
c.7266T>A (p.Ser2422=)
c.1563T>A (p.Ser521=)
Xg.31774121_31774140delCA2695232459DMDc.2216_2235del (p.Ser739PhefsTer27)
c.-11_9del
n.1031_1050del
n.953_972del
n.862_881del
c.7370_7389del (p.Ser2457PhefsTer27)
c.3338_3357del (p.Ser1113PhefsTer27)
c.359_378del (p.Ser120PhefsTer27)
c.458_477del (p.Ser153PhefsTer27)
c.7358_7377del (p.Ser2453PhefsTer27)
c.127_146del (n.127_146del)
c.7355_7374del (p.Ser2452PhefsTer27)
c.7367_7386del (p.Ser2456PhefsTer27)
c.7346_7365del (p.Ser2449PhefsTer27)
c.7001_7020del (p.Ser2334PhefsTer27)
c.3347_3366del (p.Ser1116PhefsTer27)
c.7241_7260del (p.Ser2414PhefsTer27)
c.7232_7251del (p.Ser2411PhefsTer27)
c.7247_7266del (p.Ser2416PhefsTer27)
c.1544_1563del (p.Ser515PhefsTer27)
Xg.31774114G>ACA412659035DMDc.2234C>T (p.Ser745Phe)
c.8C>T (p.Ser3Phe)
n.1049C>T
n.971C>T
n.880C>T
c.7388C>T (p.Ser2463Phe)
c.3356C>T (p.Ser1119Phe)
c.377C>T (p.Ser126Phe)
c.476C>T (p.Ser159Phe)
c.7376C>T (p.Ser2459Phe)
c.145C>T (n.145C>T)
c.7373C>T (p.Ser2458Phe)
c.7385C>T (p.Ser2462Phe)
c.7364C>T (p.Ser2455Phe)
c.7019C>T (p.Ser2340Phe)
c.3365C>T (p.Ser1122Phe)
c.7259C>T (p.Ser2420Phe)
c.7250C>T (p.Ser2417Phe)
c.7265C>T (p.Ser2422Phe)
c.1562C>T (p.Ser521Phe)
Xg.31774114G>CCA412659036DMDc.2234C>G (p.Ser745Cys)
c.8C>G (p.Ser3Cys)
n.1049C>G
n.971C>G
n.880C>G
c.7388C>G (p.Ser2463Cys)
c.3356C>G (p.Ser1119Cys)
c.377C>G (p.Ser126Cys)
c.476C>G (p.Ser159Cys)
c.7376C>G (p.Ser2459Cys)
c.145C>G (n.145C>G)
c.7373C>G (p.Ser2458Cys)
c.7385C>G (p.Ser2462Cys)
c.7364C>G (p.Ser2455Cys)
c.7019C>G (p.Ser2340Cys)
c.3365C>G (p.Ser1122Cys)
c.7259C>G (p.Ser2420Cys)
c.7250C>G (p.Ser2417Cys)
c.7265C>G (p.Ser2422Cys)
c.1562C>G (p.Ser521Cys)
Xg.31774114G>TCA412659037DMDc.2234C>A (p.Ser745Tyr)
c.8C>A (p.Ser3Tyr)
n.1049C>A
n.971C>A
n.880C>A
c.7388C>A (p.Ser2463Tyr)
c.3356C>A (p.Ser1119Tyr)
c.377C>A (p.Ser126Tyr)
c.476C>A (p.Ser159Tyr)
c.7376C>A (p.Ser2459Tyr)
c.145C>A (n.145C>A)
c.7373C>A (p.Ser2458Tyr)
c.7385C>A (p.Ser2462Tyr)
c.7364C>A (p.Ser2455Tyr)
c.7019C>A (p.Ser2340Tyr)
c.3365C>A (p.Ser1122Tyr)
c.7259C>A (p.Ser2420Tyr)
c.7250C>A (p.Ser2417Tyr)
c.7265C>A (p.Ser2422Tyr)
c.1562C>A (p.Ser521Tyr)
Xg.31774115A>CCA412659038DMDc.2233T>G (p.Ser745Ala)
c.7T>G (p.Ser3Ala)
n.1048T>G
n.970T>G
n.879T>G
c.7387T>G (p.Ser2463Ala)
c.3355T>G (p.Ser1119Ala)
c.376T>G (p.Ser126Ala)
c.475T>G (p.Ser159Ala)
c.7375T>G (p.Ser2459Ala)
c.144T>G (n.144T>G)
c.7372T>G (p.Ser2458Ala)
c.7384T>G (p.Ser2462Ala)
c.7363T>G (p.Ser2455Ala)
c.7018T>G (p.Ser2340Ala)
c.3364T>G (p.Ser1122Ala)
c.7258T>G (p.Ser2420Ala)
c.7249T>G (p.Ser2417Ala)
c.7264T>G (p.Ser2422Ala)
c.1561T>G (p.Ser521Ala)
Xg.31774115A>GCA412659039DMDc.2233T>C (p.Ser745Pro)
c.7T>C (p.Ser3Pro)
n.1048T>C
n.970T>C
n.879T>C
c.7387T>C (p.Ser2463Pro)
c.3355T>C (p.Ser1119Pro)
c.376T>C (p.Ser126Pro)
c.475T>C (p.Ser159Pro)
c.7375T>C (p.Ser2459Pro)
c.144T>C (n.144T>C)
c.7372T>C (p.Ser2458Pro)
c.7384T>C (p.Ser2462Pro)
c.7363T>C (p.Ser2455Pro)
c.7018T>C (p.Ser2340Pro)
c.3364T>C (p.Ser1122Pro)
c.7258T>C (p.Ser2420Pro)
c.7249T>C (p.Ser2417Pro)
c.7264T>C (p.Ser2422Pro)
c.1561T>C (p.Ser521Pro)
Xg.31774115A>TCA412659040DMDc.2233T>A (p.Ser745Thr)
c.7T>A (p.Ser3Thr)
n.1048T>A
n.970T>A
n.879T>A
c.7387T>A (p.Ser2463Thr)
c.3355T>A (p.Ser1119Thr)
c.376T>A (p.Ser126Thr)
c.475T>A (p.Ser159Thr)
c.7375T>A (p.Ser2459Thr)
c.144T>A (n.144T>A)
c.7372T>A (p.Ser2458Thr)
c.7384T>A (p.Ser2462Thr)
c.7363T>A (p.Ser2455Thr)
c.7018T>A (p.Ser2340Thr)
c.3364T>A (p.Ser1122Thr)
c.7258T>A (p.Ser2420Thr)
c.7249T>A (p.Ser2417Thr)
c.7264T>A (p.Ser2422Thr)
c.1561T>A (p.Ser521Thr)
Xg.31774116T>ACA515859385DMDc.2232A>T (p.Pro744=)
c.6A>T (p.Pro2=)
n.1047A>T
n.969A>T
n.878A>T
c.7386A>T (p.Pro2462=)
c.3354A>T (p.Pro1118=)
c.375A>T (p.Pro125=)
c.474A>T (p.Pro158=)
c.7374A>T (p.Pro2458=)
c.143A>T (n.143A>T)
c.7371A>T (p.Pro2457=)
c.7383A>T (p.Pro2461=)
c.7362A>T (p.Pro2454=)
c.7017A>T (p.Pro2339=)
c.3363A>T (p.Pro1121=)
c.7257A>T (p.Pro2419=)
c.7248A>T (p.Pro2416=)
c.7263A>T (p.Pro2421=)
c.1560A>T (p.Pro520=)
Xg.31774116T>CCA10378282DMDc.2232A>G (p.Pro744=)
c.6A>G (p.Pro2=)
n.1047A>G
n.969A>G
n.878A>G
c.7386A>G (p.Pro2462=)
c.3354A>G (p.Pro1118=)
c.375A>G (p.Pro125=)
c.474A>G (p.Pro158=)
c.7374A>G (p.Pro2458=)
c.143A>G (n.143A>G)
c.7371A>G (p.Pro2457=)
c.7383A>G (p.Pro2461=)
c.7362A>G (p.Pro2454=)
c.7017A>G (p.Pro2339=)
c.3363A>G (p.Pro1121=)
c.7257A>G (p.Pro2419=)
c.7248A>G (p.Pro2416=)
c.7263A>G (p.Pro2421=)
c.1560A>G (p.Pro520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774116T>GCA515859386DMDc.2232A>C (p.Pro744=)
c.6A>C (p.Pro2=)
n.1047A>C
n.969A>C
n.878A>C
c.7386A>C (p.Pro2462=)
c.3354A>C (p.Pro1118=)
c.375A>C (p.Pro125=)
c.474A>C (p.Pro158=)
c.7374A>C (p.Pro2458=)
c.143A>C (n.143A>C)
c.7371A>C (p.Pro2457=)
c.7383A>C (p.Pro2461=)
c.7362A>C (p.Pro2454=)
c.7017A>C (p.Pro2339=)
c.3363A>C (p.Pro1121=)
c.7257A>C (p.Pro2419=)
c.7248A>C (p.Pro2416=)
c.7263A>C (p.Pro2421=)
c.1560A>C (p.Pro520=)
Xg.31774116T=CA2422548657DMDc.2232A= (p.Pro744=)
c.6A= (p.Pro2=)
n.1047A=
n.969A=
n.878A=
c.7386A= (p.Pro2462=)
c.3354A= (p.Pro1118=)
c.375A= (p.Pro125=)
c.474A= (p.Pro158=)
c.7374A= (p.Pro2458=)
c.143A= (n.143A=)
c.7371A= (p.Pro2457=)
c.7383A= (p.Pro2461=)
c.7362A= (p.Pro2454=)
c.7017A= (p.Pro2339=)
c.3363A= (p.Pro1121=)
c.7257A= (p.Pro2419=)
c.7248A= (p.Pro2416=)
c.7263A= (p.Pro2421=)
c.1560A= (p.Pro520=)
Xg.31774117G>ACA412659041DMDc.2231C>T (p.Pro744Leu)
c.5C>T (p.Pro2Leu)
n.1046C>T
n.968C>T
n.877C>T
c.7385C>T (p.Pro2462Leu)
c.3353C>T (p.Pro1118Leu)
c.374C>T (p.Pro125Leu)
c.473C>T (p.Pro158Leu)
c.7373C>T (p.Pro2458Leu)
c.142C>T (n.142C>T)
c.7370C>T (p.Pro2457Leu)
c.7382C>T (p.Pro2461Leu)
c.7361C>T (p.Pro2454Leu)
c.7016C>T (p.Pro2339Leu)
c.3362C>T (p.Pro1121Leu)
c.7256C>T (p.Pro2419Leu)
c.7247C>T (p.Pro2416Leu)
c.7262C>T (p.Pro2421Leu)
c.1559C>T (p.Pro520Leu)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774117G>CCA412659042DMDc.2231C>G (p.Pro744Arg)
c.5C>G (p.Pro2Arg)
n.1046C>G
n.968C>G
n.877C>G
c.7385C>G (p.Pro2462Arg)
c.3353C>G (p.Pro1118Arg)
c.374C>G (p.Pro125Arg)
c.473C>G (p.Pro158Arg)
c.7373C>G (p.Pro2458Arg)
c.142C>G (n.142C>G)
c.7370C>G (p.Pro2457Arg)
c.7382C>G (p.Pro2461Arg)
c.7361C>G (p.Pro2454Arg)
c.7016C>G (p.Pro2339Arg)
c.3362C>G (p.Pro1121Arg)
c.7256C>G (p.Pro2419Arg)
c.7247C>G (p.Pro2416Arg)
c.7262C>G (p.Pro2421Arg)
c.1559C>G (p.Pro520Arg)
Xg.31774117G=CA2422548658DMDc.2231C= (p.Pro744=)
c.5C= (p.Pro2=)
n.1046C=
n.968C=
n.877C=
c.7385C= (p.Pro2462=)
c.3353C= (p.Pro1118=)
c.374C= (p.Pro125=)
c.473C= (p.Pro158=)
c.7373C= (p.Pro2458=)
c.142C= (n.142C=)
c.7370C= (p.Pro2457=)
c.7382C= (p.Pro2461=)
c.7361C= (p.Pro2454=)
c.7016C= (p.Pro2339=)
c.3362C= (p.Pro1121=)
c.7256C= (p.Pro2419=)
c.7247C= (p.Pro2416=)
c.7262C= (p.Pro2421=)
c.1559C= (p.Pro520=)
Xg.31774117G>TCA412659043DMDc.2231C>A (p.Pro744Gln)
c.5C>A (p.Pro2Gln)
n.1046C>A
n.968C>A
n.877C>A
c.7385C>A (p.Pro2462Gln)
c.3353C>A (p.Pro1118Gln)
c.374C>A (p.Pro125Gln)
c.473C>A (p.Pro158Gln)
c.7373C>A (p.Pro2458Gln)
c.142C>A (n.142C>A)
c.7370C>A (p.Pro2457Gln)
c.7382C>A (p.Pro2461Gln)
c.7361C>A (p.Pro2454Gln)
c.7016C>A (p.Pro2339Gln)
c.3362C>A (p.Pro1121Gln)
c.7256C>A (p.Pro2419Gln)
c.7247C>A (p.Pro2416Gln)
c.7262C>A (p.Pro2421Gln)
c.1559C>A (p.Pro520Gln)
 ClinVar
Xg.31774118G>ACA412659046DMDc.2230C>T (p.Pro744Ser)
c.4C>T (p.Pro2Ser)
n.1045C>T
n.967C>T
n.876C>T
c.7384C>T (p.Pro2462Ser)
c.3352C>T (p.Pro1118Ser)
c.373C>T (p.Pro125Ser)
c.472C>T (p.Pro158Ser)
c.7372C>T (p.Pro2458Ser)
c.141C>T (n.141C>T)
c.7369C>T (p.Pro2457Ser)
c.7381C>T (p.Pro2461Ser)
c.7360C>T (p.Pro2454Ser)
c.7015C>T (p.Pro2339Ser)
c.3361C>T (p.Pro1121Ser)
c.7255C>T (p.Pro2419Ser)
c.7246C>T (p.Pro2416Ser)
c.7261C>T (p.Pro2421Ser)
c.1558C>T (p.Pro520Ser)
Xg.31774118G>CCA412659044DMDc.2230C>G (p.Pro744Ala)
c.4C>G (p.Pro2Ala)
n.1045C>G
n.967C>G
n.876C>G
c.7384C>G (p.Pro2462Ala)
c.3352C>G (p.Pro1118Ala)
c.373C>G (p.Pro125Ala)
c.472C>G (p.Pro158Ala)
c.7372C>G (p.Pro2458Ala)
c.141C>G (n.141C>G)
c.7369C>G (p.Pro2457Ala)
c.7381C>G (p.Pro2461Ala)
c.7360C>G (p.Pro2454Ala)
c.7015C>G (p.Pro2339Ala)
c.3361C>G (p.Pro1121Ala)
c.7255C>G (p.Pro2419Ala)
c.7246C>G (p.Pro2416Ala)
c.7261C>G (p.Pro2421Ala)
c.1558C>G (p.Pro520Ala)
Xg.31774118G>TCA412659045DMDc.2230C>A (p.Pro744Thr)
c.4C>A (p.Pro2Thr)
n.1045C>A
n.967C>A
n.876C>A
c.7384C>A (p.Pro2462Thr)
c.3352C>A (p.Pro1118Thr)
c.373C>A (p.Pro125Thr)
c.472C>A (p.Pro158Thr)
c.7372C>A (p.Pro2458Thr)
c.141C>A (n.141C>A)
c.7369C>A (p.Pro2457Thr)
c.7381C>A (p.Pro2461Thr)
c.7360C>A (p.Pro2454Thr)
c.7015C>A (p.Pro2339Thr)
c.3361C>A (p.Pro1121Thr)
c.7255C>A (p.Pro2419Thr)
c.7246C>A (p.Pro2416Thr)
c.7261C>A (p.Pro2421Thr)
c.1558C>A (p.Pro520Thr)
Xg.31774119C>ACA412659047DMDc.2229G>T (p.Met743Ile)
c.3G>T (p.Met1Ile)
n.1044G>T
n.966G>T
n.875G>T
c.7383G>T (p.Met2461Ile)
c.3351G>T (p.Met1117Ile)
c.372G>T (p.Met124Ile)
c.471G>T (p.Met157Ile)
c.7371G>T (p.Met2457Ile)
c.140G>T (n.140G>T)
c.7368G>T (p.Met2456Ile)
c.7380G>T (p.Met2460Ile)
c.7359G>T (p.Met2453Ile)
c.7014G>T (p.Met2338Ile)
c.3360G>T (p.Met1120Ile)
c.7254G>T (p.Met2418Ile)
c.7245G>T (p.Met2415Ile)
c.7260G>T (p.Met2420Ile)
c.1557G>T (p.Met519Ile)
Xg.31774119C>GCA412659048DMDc.2229G>C (p.Met743Ile)
c.3G>C (p.Met1Ile)
n.1044G>C
n.966G>C
n.875G>C
c.7383G>C (p.Met2461Ile)
c.3351G>C (p.Met1117Ile)
c.372G>C (p.Met124Ile)
c.471G>C (p.Met157Ile)
c.7371G>C (p.Met2457Ile)
c.140G>C (n.140G>C)
c.7368G>C (p.Met2456Ile)
c.7380G>C (p.Met2460Ile)
c.7359G>C (p.Met2453Ile)
c.7014G>C (p.Met2338Ile)
c.3360G>C (p.Met1120Ile)
c.7254G>C (p.Met2418Ile)
c.7245G>C (p.Met2415Ile)
c.7260G>C (p.Met2420Ile)
c.1557G>C (p.Met519Ile)
Xg.31774119C>TCA412659049DMDc.2229G>A (p.Met743Ile)
c.3G>A (p.Met1Ile)
n.1044G>A
n.966G>A
n.875G>A
c.7383G>A (p.Met2461Ile)
c.3351G>A (p.Met1117Ile)
c.372G>A (p.Met124Ile)
c.471G>A (p.Met157Ile)
c.7371G>A (p.Met2457Ile)
c.140G>A (n.140G>A)
c.7368G>A (p.Met2456Ile)
c.7380G>A (p.Met2460Ile)
c.7359G>A (p.Met2453Ile)
c.7014G>A (p.Met2338Ile)
c.3360G>A (p.Met1120Ile)
c.7254G>A (p.Met2418Ile)
c.7245G>A (p.Met2415Ile)
c.7260G>A (p.Met2420Ile)
c.1557G>A (p.Met519Ile)
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.31774120A>CCA412659050DMDc.2228T>G (p.Met743Arg)
c.2T>G (p.Met1Arg)
n.1043T>G
n.965T>G
n.874T>G
c.7382T>G (p.Met2461Arg)
c.3350T>G (p.Met1117Arg)
c.371T>G (p.Met124Arg)
c.470T>G (p.Met157Arg)
c.7370T>G (p.Met2457Arg)
c.139T>G (n.139T>G)
c.7367T>G (p.Met2456Arg)
c.7379T>G (p.Met2460Arg)
c.7358T>G (p.Met2453Arg)
c.7013T>G (p.Met2338Arg)
c.3359T>G (p.Met1120Arg)
c.7253T>G (p.Met2418Arg)
c.7244T>G (p.Met2415Arg)
c.7259T>G (p.Met2420Arg)
c.1556T>G (p.Met519Arg)
Xg.31774120A>GCA412659051DMDc.2228T>C (p.Met743Thr)
c.2T>C (p.Met1Thr)
n.1043T>C
n.965T>C
n.874T>C
c.7382T>C (p.Met2461Thr)
c.3350T>C (p.Met1117Thr)
c.371T>C (p.Met124Thr)
c.470T>C (p.Met157Thr)
c.7370T>C (p.Met2457Thr)
c.139T>C (n.139T>C)
c.7367T>C (p.Met2456Thr)
c.7379T>C (p.Met2460Thr)
c.7358T>C (p.Met2453Thr)
c.7013T>C (p.Met2338Thr)
c.3359T>C (p.Met1120Thr)
c.7253T>C (p.Met2418Thr)
c.7244T>C (p.Met2415Thr)
c.7259T>C (p.Met2420Thr)
c.1556T>C (p.Met519Thr)
 gnomAD v4
Xg.31774120A>TCA412659052DMDc.2228T>A (p.Met743Lys)
c.2T>A (p.Met1Lys)
n.1043T>A
n.965T>A
n.874T>A
c.7382T>A (p.Met2461Lys)
c.3350T>A (p.Met1117Lys)
c.371T>A (p.Met124Lys)
c.470T>A (p.Met157Lys)
c.7370T>A (p.Met2457Lys)
c.139T>A (n.139T>A)
c.7367T>A (p.Met2456Lys)
c.7379T>A (p.Met2460Lys)
c.7358T>A (p.Met2453Lys)
c.7013T>A (p.Met2338Lys)
c.3359T>A (p.Met1120Lys)
c.7253T>A (p.Met2418Lys)
c.7244T>A (p.Met2415Lys)
c.7259T>A (p.Met2420Lys)
c.1556T>A (p.Met519Lys)
Xg.31774121T>ACA412659053DMDc.2227A>T (p.Met743Leu)
c.1A>T (p.Met1Leu)
n.1042A>T
n.964A>T
n.873A>T
c.7381A>T (p.Met2461Leu)
c.3349A>T (p.Met1117Leu)
c.370A>T (p.Met124Leu)
c.469A>T (p.Met157Leu)
c.7369A>T (p.Met2457Leu)
c.138A>T (n.138A>T)
c.7366A>T (p.Met2456Leu)
c.7378A>T (p.Met2460Leu)
c.7357A>T (p.Met2453Leu)
c.7012A>T (p.Met2338Leu)
c.3358A>T (p.Met1120Leu)
c.7252A>T (p.Met2418Leu)
c.7243A>T (p.Met2415Leu)
c.7258A>T (p.Met2420Leu)
c.1555A>T (p.Met519Leu)
Xg.31774121T>CCA412659054DMDc.2227A>G (p.Met743Val)
c.1A>G (p.Met1Val)
n.1042A>G
n.964A>G
n.873A>G
c.7381A>G (p.Met2461Val)
c.3349A>G (p.Met1117Val)
c.370A>G (p.Met124Val)
c.469A>G (p.Met157Val)
c.7369A>G (p.Met2457Val)
c.138A>G (n.138A>G)
c.7366A>G (p.Met2456Val)
c.7378A>G (p.Met2460Val)
c.7357A>G (p.Met2453Val)
c.7012A>G (p.Met2338Val)
c.3358A>G (p.Met1120Val)
c.7252A>G (p.Met2418Val)
c.7243A>G (p.Met2415Val)
c.7258A>G (p.Met2420Val)
c.1555A>G (p.Met519Val)
Xg.31774121T>GCA412659055DMDc.2227A>C (p.Met743Leu)
c.1A>C (p.Met1Leu)
n.1042A>C
n.964A>C
n.873A>C
c.7381A>C (p.Met2461Leu)
c.3349A>C (p.Met1117Leu)
c.370A>C (p.Met124Leu)
c.469A>C (p.Met157Leu)
c.7369A>C (p.Met2457Leu)
c.138A>C (n.138A>C)
c.7366A>C (p.Met2456Leu)
c.7378A>C (p.Met2460Leu)
c.7357A>C (p.Met2453Leu)
c.7012A>C (p.Met2338Leu)
c.3358A>C (p.Met1120Leu)
c.7252A>C (p.Met2418Leu)
c.7243A>C (p.Met2415Leu)
c.7258A>C (p.Met2420Leu)
c.1555A>C (p.Met519Leu)
Xg.31774123delCA2573158639DMDc.2227del (p.Met743CysfsTer5)
c.1del (p.Met1CysfsTer5)
n.1042del
n.964del
n.873del
c.7381del (p.Met2461CysfsTer5)
c.3349del (p.Met1117CysfsTer5)
c.370del (p.Met124CysfsTer5)
c.469del (p.Met157CysfsTer5)
c.7369del (p.Met2457CysfsTer5)
c.138del (n.138del)
c.7366del (p.Met2456CysfsTer5)
c.7378del (p.Met2460CysfsTer5)
c.7357del (p.Met2453CysfsTer5)
c.7012del (p.Met2338CysfsTer5)
c.3358del (p.Met1120CysfsTer5)
c.7252del (p.Met2418CysfsTer5)
c.7243del (p.Met2415CysfsTer5)
c.7258del (p.Met2420CysfsTer5)
c.1555del (p.Met519CysfsTer5)
 ClinVar dbSNP
Xg.31774122T>ACA412659056DMDc.2226A>T (p.Glu742Asp)
c.-1A>T (n.-1A>T)
n.1041A>T
n.963A>T
n.872A>T
c.7380A>T (p.Glu2460Asp)
c.3348A>T (p.Glu1116Asp)
c.369A>T (p.Glu123Asp)
c.468A>T (p.Glu156Asp)
c.7368A>T (p.Glu2456Asp)
c.137A>T (n.137A>T)
c.7365A>T (p.Glu2455Asp)
c.7377A>T (p.Glu2459Asp)
c.7356A>T (p.Glu2452Asp)
c.7011A>T (p.Glu2337Asp)
c.3357A>T (p.Glu1119Asp)
c.7251A>T (p.Glu2417Asp)
c.7242A>T (p.Glu2414Asp)
c.7257A>T (p.Glu2419Asp)
c.1554A>T (p.Glu518Asp)
Xg.31774122T>CCA515859387DMDc.2226A>G (p.Glu742=)
c.-1A>G (n.-1A>G)
n.1041A>G
n.963A>G
n.872A>G
c.7380A>G (p.Glu2460=)
c.3348A>G (p.Glu1116=)
c.369A>G (p.Glu123=)
c.468A>G (p.Glu156=)
c.7368A>G (p.Glu2456=)
c.137A>G (n.137A>G)
c.7365A>G (p.Glu2455=)
c.7377A>G (p.Glu2459=)
c.7356A>G (p.Glu2452=)
c.7011A>G (p.Glu2337=)
c.3357A>G (p.Glu1119=)
c.7251A>G (p.Glu2417=)
c.7242A>G (p.Glu2414=)
c.7257A>G (p.Glu2419=)
c.1554A>G (p.Glu518=)
Xg.31774122T>GCA412659057DMDc.2226A>C (p.Glu742Asp)
c.-1A>C (n.-1A>C)
n.1041A>C
n.963A>C
n.872A>C
c.7380A>C (p.Glu2460Asp)
c.3348A>C (p.Glu1116Asp)
c.369A>C (p.Glu123Asp)
c.468A>C (p.Glu156Asp)
c.7368A>C (p.Glu2456Asp)
c.137A>C (n.137A>C)
c.7365A>C (p.Glu2455Asp)
c.7377A>C (p.Glu2459Asp)
c.7356A>C (p.Glu2452Asp)
c.7011A>C (p.Glu2337Asp)
c.3357A>C (p.Glu1119Asp)
c.7251A>C (p.Glu2417Asp)
c.7242A>C (p.Glu2414Asp)
c.7257A>C (p.Glu2419Asp)
c.1554A>C (p.Glu518Asp)
Xg.31774123T>ACA412659058DMDc.2225A>T (p.Glu742Val)
c.-2A>T (n.-2A>T)
n.1040A>T
n.962A>T
n.871A>T
c.7379A>T (p.Glu2460Val)
c.3347A>T (p.Glu1116Val)
c.368A>T (p.Glu123Val)
c.467A>T (p.Glu156Val)
c.7367A>T (p.Glu2456Val)
c.136A>T (n.136A>T)
c.7364A>T (p.Glu2455Val)
c.7376A>T (p.Glu2459Val)
c.7355A>T (p.Glu2452Val)
c.7010A>T (p.Glu2337Val)
c.3356A>T (p.Glu1119Val)
c.7250A>T (p.Glu2417Val)
c.7241A>T (p.Glu2414Val)
c.7256A>T (p.Glu2419Val)
c.1553A>T (p.Glu518Val)
Xg.31774123T>CCA412659060DMDc.2225A>G (p.Glu742Gly)
c.-2A>G (n.-2A>G)
n.1040A>G
n.962A>G
n.871A>G
c.7379A>G (p.Glu2460Gly)
c.3347A>G (p.Glu1116Gly)
c.368A>G (p.Glu123Gly)
c.467A>G (p.Glu156Gly)
c.7367A>G (p.Glu2456Gly)
c.136A>G (n.136A>G)
c.7364A>G (p.Glu2455Gly)
c.7376A>G (p.Glu2459Gly)
c.7355A>G (p.Glu2452Gly)
c.7010A>G (p.Glu2337Gly)
c.3356A>G (p.Glu1119Gly)
c.7250A>G (p.Glu2417Gly)
c.7241A>G (p.Glu2414Gly)
c.7256A>G (p.Glu2419Gly)
c.1553A>G (p.Glu518Gly)
Xg.31774123T>GCA412659059DMDc.2225A>C (p.Glu742Ala)
c.-2A>C (n.-2A>C)
n.1040A>C
n.962A>C
n.871A>C
c.7379A>C (p.Glu2460Ala)
c.3347A>C (p.Glu1116Ala)
c.368A>C (p.Glu123Ala)
c.467A>C (p.Glu156Ala)
c.7367A>C (p.Glu2456Ala)
c.136A>C (n.136A>C)
c.7364A>C (p.Glu2455Ala)
c.7376A>C (p.Glu2459Ala)
c.7355A>C (p.Glu2452Ala)
c.7010A>C (p.Glu2337Ala)
c.3356A>C (p.Glu1119Ala)
c.7250A>C (p.Glu2417Ala)
c.7241A>C (p.Glu2414Ala)
c.7256A>C (p.Glu2419Ala)
c.1553A>C (p.Glu518Ala)
Xg.31774124C>ACA412659061DMDc.2224G>T (p.Glu742Ter)
c.-3G>T (n.-3G>T)
n.1039G>T
n.961G>T
n.870G>T
c.7378G>T (p.Glu2460Ter)
c.3346G>T (p.Glu1116Ter)
c.367G>T (p.Glu123Ter)
c.466G>T (p.Glu156Ter)
c.7366G>T (p.Glu2456Ter)
c.135G>T (n.135G>T)
c.7363G>T (p.Glu2455Ter)
c.7375G>T (p.Glu2459Ter)
c.7354G>T (p.Glu2452Ter)
c.7009G>T (p.Glu2337Ter)
c.3355G>T (p.Glu1119Ter)
c.7249G>T (p.Glu2417Ter)
c.7240G>T (p.Glu2414Ter)
c.7255G>T (p.Glu2419Ter)
c.1552G>T (p.Glu518Ter)
 ClinVar dbSNP
Xg.31774124C=CA2422548659DMDc.2224G= (p.Glu742=)
c.-3G= (n.-3G=)
n.1039G=
n.961G=
n.870G=
c.7378G= (p.Glu2460=)
c.3346G= (p.Glu1116=)
c.367G= (p.Glu123=)
c.466G= (p.Glu156=)
c.7366G= (p.Glu2456=)
c.135G= (n.135G=)
c.7363G= (p.Glu2455=)
c.7375G= (p.Glu2459=)
c.7354G= (p.Glu2452=)
c.7009G= (p.Glu2337=)
c.3355G= (p.Glu1119=)
c.7249G= (p.Glu2417=)
c.7240G= (p.Glu2414=)
c.7255G= (p.Glu2419=)
c.1552G= (p.Glu518=)
Xg.31774124C>GCA412659062DMDc.2224G>C (p.Glu742Gln)
c.-3G>C (n.-3G>C)
n.1039G>C
n.961G>C
n.870G>C
c.7378G>C (p.Glu2460Gln)
c.3346G>C (p.Glu1116Gln)
c.367G>C (p.Glu123Gln)
c.466G>C (p.Glu156Gln)
c.7366G>C (p.Glu2456Gln)
c.135G>C (n.135G>C)
c.7363G>C (p.Glu2455Gln)
c.7375G>C (p.Glu2459Gln)
c.7354G>C (p.Glu2452Gln)
c.7009G>C (p.Glu2337Gln)
c.3355G>C (p.Glu1119Gln)
c.7249G>C (p.Glu2417Gln)
c.7240G>C (p.Glu2414Gln)
c.7255G>C (p.Glu2419Gln)
c.1552G>C (p.Glu518Gln)
Xg.31774124C>TCA412659063DMDc.2224G>A (p.Glu742Lys)
c.-3G>A (n.-3G>A)
n.1039G>A
n.961G>A
n.870G>A
c.7378G>A (p.Glu2460Lys)
c.3346G>A (p.Glu1116Lys)
c.367G>A (p.Glu123Lys)
c.466G>A (p.Glu156Lys)
c.7366G>A (p.Glu2456Lys)
c.135G>A (n.135G>A)
c.7363G>A (p.Glu2455Lys)
c.7375G>A (p.Glu2459Lys)
c.7354G>A (p.Glu2452Lys)
c.7009G>A (p.Glu2337Lys)
c.3355G>A (p.Glu1119Lys)
c.7249G>A (p.Glu2417Lys)
c.7240G>A (p.Glu2414Lys)
c.7255G>A (p.Glu2419Lys)
c.1552G>A (p.Glu518Lys)
Xg.31774125T>ACA515859388DMDc.2223A>T (p.Leu741=)
c.-4A>T (n.-4A>T)
n.1038A>T
n.960A>T
n.869A>T
c.7377A>T (p.Leu2459=)
c.3345A>T (p.Leu1115=)
c.366A>T (p.Leu122=)
c.465A>T (p.Leu155=)
c.7365A>T (p.Leu2455=)
c.134A>T (n.134A>T)
c.7362A>T (p.Leu2454=)
c.7374A>T (p.Leu2458=)
c.7353A>T (p.Leu2451=)
c.7008A>T (p.Leu2336=)
c.3354A>T (p.Leu1118=)
c.7248A>T (p.Leu2416=)
c.7239A>T (p.Leu2413=)
c.7254A>T (p.Leu2418=)
c.1551A>T (p.Leu517=)
Xg.31774125T>CCA515859389DMDc.2223A>G (p.Leu741=)
c.-4A>G (n.-4A>G)
n.1038A>G
n.960A>G
n.869A>G
c.7377A>G (p.Leu2459=)
c.3345A>G (p.Leu1115=)
c.366A>G (p.Leu122=)
c.465A>G (p.Leu155=)
c.7365A>G (p.Leu2455=)
c.134A>G (n.134A>G)
c.7362A>G (p.Leu2454=)
c.7374A>G (p.Leu2458=)
c.7353A>G (p.Leu2451=)
c.7008A>G (p.Leu2336=)
c.3354A>G (p.Leu1118=)
c.7248A>G (p.Leu2416=)
c.7239A>G (p.Leu2413=)
c.7254A>G (p.Leu2418=)
c.1551A>G (p.Leu517=)
Xg.31774125T>GCA515859390DMDc.2223A>C (p.Leu741=)
c.-4A>C (n.-4A>C)
n.1038A>C
n.960A>C
n.869A>C
c.7377A>C (p.Leu2459=)
c.3345A>C (p.Leu1115=)
c.366A>C (p.Leu122=)
c.465A>C (p.Leu155=)
c.7365A>C (p.Leu2455=)
c.134A>C (n.134A>C)
c.7362A>C (p.Leu2454=)
c.7374A>C (p.Leu2458=)
c.7353A>C (p.Leu2451=)
c.7008A>C (p.Leu2336=)
c.3354A>C (p.Leu1118=)
c.7248A>C (p.Leu2416=)
c.7239A>C (p.Leu2413=)
c.7254A>C (p.Leu2418=)
c.1551A>C (p.Leu517=)
Xg.31774126A=CA2422548660DMDc.2222T= (p.Leu741=)
c.-5T= (n.-5T=)
n.1037T=
n.959T=
n.868T=
c.7376T= (p.Leu2459=)
c.3344T= (p.Leu1115=)
c.365T= (p.Leu122=)
c.464T= (p.Leu155=)
c.7364T= (p.Leu2455=)
c.133T= (n.133T=)
c.7361T= (p.Leu2454=)
c.7373T= (p.Leu2458=)
c.7352T= (p.Leu2451=)
c.7007T= (p.Leu2336=)
c.3353T= (p.Leu1118=)
c.7247T= (p.Leu2416=)
c.7238T= (p.Leu2413=)
c.7253T= (p.Leu2418=)
c.1550T= (p.Leu517=)
Xg.31774126A>CCA412659064DMDc.2222T>G (p.Leu741Arg)
c.-5T>G (n.-5T>G)
n.1037T>G
n.959T>G
n.868T>G
c.7376T>G (p.Leu2459Arg)
c.3344T>G (p.Leu1115Arg)
c.365T>G (p.Leu122Arg)
c.464T>G (p.Leu155Arg)
c.7364T>G (p.Leu2455Arg)
c.133T>G (n.133T>G)
c.7361T>G (p.Leu2454Arg)
c.7373T>G (p.Leu2458Arg)
c.7352T>G (p.Leu2451Arg)
c.7007T>G (p.Leu2336Arg)
c.3353T>G (p.Leu1118Arg)
c.7247T>G (p.Leu2416Arg)
c.7238T>G (p.Leu2413Arg)
c.7253T>G (p.Leu2418Arg)
c.1550T>G (p.Leu517Arg)
Xg.31774126A>GCA412659065DMDc.2222T>C (p.Leu741Pro)
c.-5T>C (n.-5T>C)
n.1037T>C
n.959T>C
n.868T>C
c.7376T>C (p.Leu2459Pro)
c.3344T>C (p.Leu1115Pro)
c.365T>C (p.Leu122Pro)
c.464T>C (p.Leu155Pro)
c.7364T>C (p.Leu2455Pro)
c.133T>C (n.133T>C)
c.7361T>C (p.Leu2454Pro)
c.7373T>C (p.Leu2458Pro)
c.7352T>C (p.Leu2451Pro)
c.7007T>C (p.Leu2336Pro)
c.3353T>C (p.Leu1118Pro)
c.7247T>C (p.Leu2416Pro)
c.7238T>C (p.Leu2413Pro)
c.7253T>C (p.Leu2418Pro)
c.1550T>C (p.Leu517Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774126A>TCA412659066DMDc.2222T>A (p.Leu741Gln)
c.-5T>A (n.-5T>A)
n.1037T>A
n.959T>A
n.868T>A
c.7376T>A (p.Leu2459Gln)
c.3344T>A (p.Leu1115Gln)
c.365T>A (p.Leu122Gln)
c.464T>A (p.Leu155Gln)
c.7364T>A (p.Leu2455Gln)
c.133T>A (n.133T>A)
c.7361T>A (p.Leu2454Gln)
c.7373T>A (p.Leu2458Gln)
c.7352T>A (p.Leu2451Gln)
c.7007T>A (p.Leu2336Gln)
c.3353T>A (p.Leu1118Gln)
c.7247T>A (p.Leu2416Gln)
c.7238T>A (p.Leu2413Gln)
c.7253T>A (p.Leu2418Gln)
c.1550T>A (p.Leu517Gln)
Xg.31774127G>ACA515859391DMDc.2221C>T (p.Leu741=)
c.-6C>T (n.-6C>T)
n.1036C>T
n.958C>T
n.867C>T
c.7375C>T (p.Leu2459=)
c.3343C>T (p.Leu1115=)
c.364C>T (p.Leu122=)
c.463C>T (p.Leu155=)
c.7363C>T (p.Leu2455=)
c.132C>T (n.132C>T)
c.7360C>T (p.Leu2454=)
c.7372C>T (p.Leu2458=)
c.7351C>T (p.Leu2451=)
c.7006C>T (p.Leu2336=)
c.3352C>T (p.Leu1118=)
c.7246C>T (p.Leu2416=)
c.7237C>T (p.Leu2413=)
c.7252C>T (p.Leu2418=)
c.1549C>T (p.Leu517=)
Xg.31774127G>CCA328470494DMDc.2221C>G (p.Leu741Val)
c.-6C>G (n.-6C>G)
n.1036C>G
n.958C>G
n.867C>G
c.7375C>G (p.Leu2459Val)
c.3343C>G (p.Leu1115Val)
c.364C>G (p.Leu122Val)
c.463C>G (p.Leu155Val)
c.7363C>G (p.Leu2455Val)
c.132C>G (n.132C>G)
c.7360C>G (p.Leu2454Val)
c.7372C>G (p.Leu2458Val)
c.7351C>G (p.Leu2451Val)
c.7006C>G (p.Leu2336Val)
c.3352C>G (p.Leu1118Val)
c.7246C>G (p.Leu2416Val)
c.7237C>G (p.Leu2413Val)
c.7252C>G (p.Leu2418Val)
c.1549C>G (p.Leu517Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774127G=CA2422548661DMDc.2221C= (p.Leu741=)
c.-6C= (n.-6C=)
n.1036C=
n.958C=
n.867C=
c.7375C= (p.Leu2459=)
c.3343C= (p.Leu1115=)
c.364C= (p.Leu122=)
c.463C= (p.Leu155=)
c.7363C= (p.Leu2455=)
c.132C= (n.132C=)
c.7360C= (p.Leu2454=)
c.7372C= (p.Leu2458=)
c.7351C= (p.Leu2451=)
c.7006C= (p.Leu2336=)
c.3352C= (p.Leu1118=)
c.7246C= (p.Leu2416=)
c.7237C= (p.Leu2413=)
c.7252C= (p.Leu2418=)
c.1549C= (p.Leu517=)
Xg.31774127G>TCA412659067DMDc.2221C>A (p.Leu741Ile)
c.-6C>A (n.-6C>A)
n.1036C>A
n.958C>A
n.867C>A
c.7375C>A (p.Leu2459Ile)
c.3343C>A (p.Leu1115Ile)
c.364C>A (p.Leu122Ile)
c.463C>A (p.Leu155Ile)
c.7363C>A (p.Leu2455Ile)
c.132C>A (n.132C>A)
c.7360C>A (p.Leu2454Ile)
c.7372C>A (p.Leu2458Ile)
c.7351C>A (p.Leu2451Ile)
c.7006C>A (p.Leu2336Ile)
c.3352C>A (p.Leu1118Ile)
c.7246C>A (p.Leu2416Ile)
c.7237C>A (p.Leu2413Ile)
c.7252C>A (p.Leu2418Ile)
c.1549C>A (p.Leu517Ile)
Xg.31774128T>ACA412659068DMDc.2220A>T (p.Lys740Asn)
c.-7A>T (n.-7A>T)
n.1035A>T
n.957A>T
n.866A>T
c.7374A>T (p.Lys2458Asn)
c.3342A>T (p.Lys1114Asn)
c.363A>T (p.Lys121Asn)
c.462A>T (p.Lys154Asn)
c.7362A>T (p.Lys2454Asn)
c.131A>T (n.131A>T)
c.7359A>T (p.Lys2453Asn)
c.7371A>T (p.Lys2457Asn)
c.7350A>T (p.Lys2450Asn)
c.7005A>T (p.Lys2335Asn)
c.3351A>T (p.Lys1117Asn)
c.7245A>T (p.Lys2415Asn)
c.7236A>T (p.Lys2412Asn)
c.7251A>T (p.Lys2417Asn)
c.1548A>T (p.Lys516Asn)
Xg.31774128T>CCA515859392DMDc.2220A>G (p.Lys740=)
c.-7A>G (n.-7A>G)
n.1035A>G
n.957A>G
n.866A>G
c.7374A>G (p.Lys2458=)
c.3342A>G (p.Lys1114=)
c.363A>G (p.Lys121=)
c.462A>G (p.Lys154=)
c.7362A>G (p.Lys2454=)
c.131A>G (n.131A>G)
c.7359A>G (p.Lys2453=)
c.7371A>G (p.Lys2457=)
c.7350A>G (p.Lys2450=)
c.7005A>G (p.Lys2335=)
c.3351A>G (p.Lys1117=)
c.7245A>G (p.Lys2415=)
c.7236A>G (p.Lys2412=)
c.7251A>G (p.Lys2417=)
c.1548A>G (p.Lys516=)
Xg.31774128T>GCA412659069DMDc.2220A>C (p.Lys740Asn)
c.-7A>C (n.-7A>C)
n.1035A>C
n.957A>C
n.866A>C
c.7374A>C (p.Lys2458Asn)
c.3342A>C (p.Lys1114Asn)
c.363A>C (p.Lys121Asn)
c.462A>C (p.Lys154Asn)
c.7362A>C (p.Lys2454Asn)
c.131A>C (n.131A>C)
c.7359A>C (p.Lys2453Asn)
c.7371A>C (p.Lys2457Asn)
c.7350A>C (p.Lys2450Asn)
c.7005A>C (p.Lys2335Asn)
c.3351A>C (p.Lys1117Asn)
c.7245A>C (p.Lys2415Asn)
c.7236A>C (p.Lys2412Asn)
c.7251A>C (p.Lys2417Asn)
c.1548A>C (p.Lys516Asn)
Xg.31774129T>ACA412659070DMDc.2219A>T (p.Lys740Ile)
c.-8A>T (n.-8A>T)
n.1034A>T
n.956A>T
n.865A>T
c.7373A>T (p.Lys2458Ile)
c.3341A>T (p.Lys1114Ile)
c.362A>T (p.Lys121Ile)
c.461A>T (p.Lys154Ile)
c.7361A>T (p.Lys2454Ile)
c.130A>T (n.130A>T)
c.7358A>T (p.Lys2453Ile)
c.7370A>T (p.Lys2457Ile)
c.7349A>T (p.Lys2450Ile)
c.7004A>T (p.Lys2335Ile)
c.3350A>T (p.Lys1117Ile)
c.7244A>T (p.Lys2415Ile)
c.7235A>T (p.Lys2412Ile)
c.7250A>T (p.Lys2417Ile)
c.1547A>T (p.Lys516Ile)
Xg.31774129T>CCA412659071DMDc.2219A>G (p.Lys740Arg)
c.-8A>G (n.-8A>G)
n.1034A>G
n.956A>G
n.865A>G
c.7373A>G (p.Lys2458Arg)
c.3341A>G (p.Lys1114Arg)
c.362A>G (p.Lys121Arg)
c.461A>G (p.Lys154Arg)
c.7361A>G (p.Lys2454Arg)
c.130A>G (n.130A>G)
c.7358A>G (p.Lys2453Arg)
c.7370A>G (p.Lys2457Arg)
c.7349A>G (p.Lys2450Arg)
c.7004A>G (p.Lys2335Arg)
c.3350A>G (p.Lys1117Arg)
c.7244A>G (p.Lys2415Arg)
c.7235A>G (p.Lys2412Arg)
c.7250A>G (p.Lys2417Arg)
c.1547A>G (p.Lys516Arg)
Xg.31774129T>GCA412659072DMDc.2219A>C (p.Lys740Thr)
c.-8A>C (n.-8A>C)
n.1034A>C
n.956A>C
n.865A>C
c.7373A>C (p.Lys2458Thr)
c.3341A>C (p.Lys1114Thr)
c.362A>C (p.Lys121Thr)
c.461A>C (p.Lys154Thr)
c.7361A>C (p.Lys2454Thr)
c.130A>C (n.130A>C)
c.7358A>C (p.Lys2453Thr)
c.7370A>C (p.Lys2457Thr)
c.7349A>C (p.Lys2450Thr)
c.7004A>C (p.Lys2335Thr)
c.3350A>C (p.Lys1117Thr)
c.7244A>C (p.Lys2415Thr)
c.7235A>C (p.Lys2412Thr)
c.7250A>C (p.Lys2417Thr)
c.1547A>C (p.Lys516Thr)
Xg.31774130T>ACA412659075DMDc.2218A>T (p.Lys740Ter)
c.-9A>T (n.-9A>T)
n.1033A>T
n.955A>T
n.864A>T
c.7372A>T (p.Lys2458Ter)
c.3340A>T (p.Lys1114Ter)
c.361A>T (p.Lys121Ter)
c.460A>T (p.Lys154Ter)
c.7360A>T (p.Lys2454Ter)
c.129A>T (n.129A>T)
c.7357A>T (p.Lys2453Ter)
c.7369A>T (p.Lys2457Ter)
c.7348A>T (p.Lys2450Ter)
c.7003A>T (p.Lys2335Ter)
c.3349A>T (p.Lys1117Ter)
c.7243A>T (p.Lys2415Ter)
c.7234A>T (p.Lys2412Ter)
c.7249A>T (p.Lys2417Ter)
c.1546A>T (p.Lys516Ter)
Xg.31774130T>CCA412659074DMDc.2218A>G (p.Lys740Glu)
c.-9A>G (n.-9A>G)
n.1033A>G
n.955A>G
n.864A>G
c.7372A>G (p.Lys2458Glu)
c.3340A>G (p.Lys1114Glu)
c.361A>G (p.Lys121Glu)
c.460A>G (p.Lys154Glu)
c.7360A>G (p.Lys2454Glu)
c.129A>G (n.129A>G)
c.7357A>G (p.Lys2453Glu)
c.7369A>G (p.Lys2457Glu)
c.7348A>G (p.Lys2450Glu)
c.7003A>G (p.Lys2335Glu)
c.3349A>G (p.Lys1117Glu)
c.7243A>G (p.Lys2415Glu)
c.7234A>G (p.Lys2412Glu)
c.7249A>G (p.Lys2417Glu)
c.1546A>G (p.Lys516Glu)
Xg.31774130T>GCA412659073DMDc.2218A>C (p.Lys740Gln)
c.-9A>C (n.-9A>C)
n.1033A>C
n.955A>C
n.864A>C
c.7372A>C (p.Lys2458Gln)
c.3340A>C (p.Lys1114Gln)
c.361A>C (p.Lys121Gln)
c.460A>C (p.Lys154Gln)
c.7360A>C (p.Lys2454Gln)
c.129A>C (n.129A>C)
c.7357A>C (p.Lys2453Gln)
c.7369A>C (p.Lys2457Gln)
c.7348A>C (p.Lys2450Gln)
c.7003A>C (p.Lys2335Gln)
c.3349A>C (p.Lys1117Gln)
c.7243A>C (p.Lys2415Gln)
c.7234A>C (p.Lys2412Gln)
c.7249A>C (p.Lys2417Gln)
c.1546A>C (p.Lys516Gln)
Xg.31774131G>ACA515859393DMDc.2217C>T (p.Ser739=)
c.-10C>T (n.-10C>T)
n.1032C>T
n.954C>T
n.863C>T
c.7371C>T (p.Ser2457=)
c.3339C>T (p.Ser1113=)
c.360C>T (p.Ser120=)
c.459C>T (p.Ser153=)
c.7359C>T (p.Ser2453=)
c.128C>T (n.128C>T)
c.7356C>T (p.Ser2452=)
c.7368C>T (p.Ser2456=)
c.7347C>T (p.Ser2449=)
c.7002C>T (p.Ser2334=)
c.3348C>T (p.Ser1116=)
c.7242C>T (p.Ser2414=)
c.7233C>T (p.Ser2411=)
c.7248C>T (p.Ser2416=)
c.1545C>T (p.Ser515=)
Xg.31774131G>CCA515859394DMDc.2217C>G (p.Ser739=)
c.-10C>G (n.-10C>G)
n.1032C>G
n.954C>G
n.863C>G
c.7371C>G (p.Ser2457=)
c.3339C>G (p.Ser1113=)
c.360C>G (p.Ser120=)
c.459C>G (p.Ser153=)
c.7359C>G (p.Ser2453=)
c.128C>G (n.128C>G)
c.7356C>G (p.Ser2452=)
c.7368C>G (p.Ser2456=)
c.7347C>G (p.Ser2449=)
c.7002C>G (p.Ser2334=)
c.3348C>G (p.Ser1116=)
c.7242C>G (p.Ser2414=)
c.7233C>G (p.Ser2411=)
c.7248C>G (p.Ser2416=)
c.1545C>G (p.Ser515=)
 ClinVar
Xg.31774131G>TCA515859395DMDc.2217C>A (p.Ser739=)
c.-10C>A (n.-10C>A)
n.1032C>A
n.954C>A
n.863C>A
c.7371C>A (p.Ser2457=)
c.3339C>A (p.Ser1113=)
c.360C>A (p.Ser120=)
c.459C>A (p.Ser153=)
c.7359C>A (p.Ser2453=)
c.128C>A (n.128C>A)
c.7356C>A (p.Ser2452=)
c.7368C>A (p.Ser2456=)
c.7347C>A (p.Ser2449=)
c.7002C>A (p.Ser2334=)
c.3348C>A (p.Ser1116=)
c.7242C>A (p.Ser2414=)
c.7233C>A (p.Ser2411=)
c.7248C>A (p.Ser2416=)
c.1545C>A (p.Ser515=)
Xg.31774132G>ACA10378283DMDc.2216C>T (p.Ser739Phe)
c.-11C>T (n.-11C>T)
n.1031C>T
n.953C>T
n.862C>T
c.7370C>T (p.Ser2457Phe)
c.3338C>T (p.Ser1113Phe)
c.359C>T (p.Ser120Phe)
c.458C>T (p.Ser153Phe)
c.7358C>T (p.Ser2453Phe)
c.127C>T (n.127C>T)
c.7355C>T (p.Ser2452Phe)
c.7367C>T (p.Ser2456Phe)
c.7346C>T (p.Ser2449Phe)
c.7001C>T (p.Ser2334Phe)
c.3347C>T (p.Ser1116Phe)
c.7241C>T (p.Ser2414Phe)
c.7232C>T (p.Ser2411Phe)
c.7247C>T (p.Ser2416Phe)
c.1544C>T (p.Ser515Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774132G>CCA412659076DMDc.2216C>G (p.Ser739Cys)
c.-11C>G (n.-11C>G)
n.1031C>G
n.953C>G
n.862C>G
c.7370C>G (p.Ser2457Cys)
c.3338C>G (p.Ser1113Cys)
c.359C>G (p.Ser120Cys)
c.458C>G (p.Ser153Cys)
c.7358C>G (p.Ser2453Cys)
c.127C>G (n.127C>G)
c.7355C>G (p.Ser2452Cys)
c.7367C>G (p.Ser2456Cys)
c.7346C>G (p.Ser2449Cys)
c.7001C>G (p.Ser2334Cys)
c.3347C>G (p.Ser1116Cys)
c.7241C>G (p.Ser2414Cys)
c.7232C>G (p.Ser2411Cys)
c.7247C>G (p.Ser2416Cys)
c.1544C>G (p.Ser515Cys)
Xg.31774132G=CA2422548662DMDc.2216C= (p.Ser739=)
c.-11C= (n.-11C=)
n.1031C=
n.953C=
n.862C=
c.7370C= (p.Ser2457=)
c.3338C= (p.Ser1113=)
c.359C= (p.Ser120=)
c.458C= (p.Ser153=)
c.7358C= (p.Ser2453=)
c.127C= (n.127C=)
c.7355C= (p.Ser2452=)
c.7367C= (p.Ser2456=)
c.7346C= (p.Ser2449=)
c.7001C= (p.Ser2334=)
c.3347C= (p.Ser1116=)
c.7241C= (p.Ser2414=)
c.7232C= (p.Ser2411=)
c.7247C= (p.Ser2416=)
c.1544C= (p.Ser515=)
Xg.31774132G>TCA412659077DMDc.2216C>A (p.Ser739Tyr)
c.-11C>A (n.-11C>A)
n.1031C>A
n.953C>A
n.862C>A
c.7370C>A (p.Ser2457Tyr)
c.3338C>A (p.Ser1113Tyr)
c.359C>A (p.Ser120Tyr)
c.458C>A (p.Ser153Tyr)
c.7358C>A (p.Ser2453Tyr)
c.127C>A (n.127C>A)
c.7355C>A (p.Ser2452Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7346C>A (p.Ser2449Tyr)
c.7001C>A (p.Ser2334Tyr)
c.3347C>A (p.Ser1116Tyr)
c.7241C>A (p.Ser2414Tyr)
c.7232C>A (p.Ser2411Tyr)
c.7247C>A (p.Ser2416Tyr)
c.1544C>A (p.Ser515Tyr)
Xg.31774133A>CCA412659078DMDc.2215T>G (p.Ser739Ala)
c.-12T>G (n.-12T>G)
n.1030T>G
n.952T>G
n.861T>G
c.7369T>G (p.Ser2457Ala)
c.3337T>G (p.Ser1113Ala)
c.358T>G (p.Ser120Ala)
c.457T>G (p.Ser153Ala)
c.7357T>G (p.Ser2453Ala)
c.126T>G (n.126T>G)
c.7354T>G (p.Ser2452Ala)
c.7366T>G (p.Ser2456Ala)
c.7345T>G (p.Ser2449Ala)
c.7000T>G (p.Ser2334Ala)
c.3346T>G (p.Ser1116Ala)
c.7240T>G (p.Ser2414Ala)
c.7231T>G (p.Ser2411Ala)
c.7246T>G (p.Ser2416Ala)
c.1543T>G (p.Ser515Ala)
Xg.31774133A>GCA412659079DMDc.2215T>C (p.Ser739Pro)
c.-12T>C (n.-12T>C)
n.1030T>C
n.952T>C
n.861T>C
c.7369T>C (p.Ser2457Pro)
c.3337T>C (p.Ser1113Pro)
c.358T>C (p.Ser120Pro)
c.457T>C (p.Ser153Pro)
c.7357T>C (p.Ser2453Pro)
c.126T>C (n.126T>C)
c.7354T>C (p.Ser2452Pro)
c.7366T>C (p.Ser2456Pro)
c.7345T>C (p.Ser2449Pro)
c.7000T>C (p.Ser2334Pro)
c.3346T>C (p.Ser1116Pro)
c.7240T>C (p.Ser2414Pro)
c.7231T>C (p.Ser2411Pro)
c.7246T>C (p.Ser2416Pro)
c.1543T>C (p.Ser515Pro)
Xg.31774133A>TCA412659080DMDc.2215T>A (p.Ser739Thr)
c.-12T>A (n.-12T>A)
n.1030T>A
n.952T>A
n.861T>A
c.7369T>A (p.Ser2457Thr)
c.3337T>A (p.Ser1113Thr)
c.358T>A (p.Ser120Thr)
c.457T>A (p.Ser153Thr)
c.7357T>A (p.Ser2453Thr)
c.126T>A (n.126T>A)
c.7354T>A (p.Ser2452Thr)
c.7366T>A (p.Ser2456Thr)
c.7345T>A (p.Ser2449Thr)
c.7000T>A (p.Ser2334Thr)
c.3346T>A (p.Ser1116Thr)
c.7240T>A (p.Ser2414Thr)
c.7231T>A (p.Ser2411Thr)
c.7246T>A (p.Ser2416Thr)
c.1543T>A (p.Ser515Thr)
Xg.31774134G>ACA515859396DMDc.2214C>T (p.Ile738=)
c.-13C>T (n.-13C>T)
n.1029C>T
n.951C>T
n.860C>T
c.7368C>T (p.Ile2456=)
c.3336C>T (p.Ile1112=)
c.357C>T (p.Ile119=)
c.456C>T (p.Ile152=)
c.7356C>T (p.Ile2452=)
c.125C>T (n.125C>T)
c.7353C>T (p.Ile2451=)
c.7365C>T (p.Ile2455=)
c.7344C>T (p.Ile2448=)
c.6999C>T (p.Ile2333=)
c.3345C>T (p.Ile1115=)
c.7239C>T (p.Ile2413=)
c.7230C>T (p.Ile2410=)
c.7245C>T (p.Ile2415=)
c.1542C>T (p.Ile514=)
Xg.31774134G>CCA412659081DMDc.2214C>G (p.Ile738Met)
c.-13C>G (n.-13C>G)
n.1029C>G
n.951C>G
n.860C>G
c.7368C>G (p.Ile2456Met)
c.3336C>G (p.Ile1112Met)
c.357C>G (p.Ile119Met)
c.456C>G (p.Ile152Met)
c.7356C>G (p.Ile2452Met)
c.125C>G (n.125C>G)
c.7353C>G (p.Ile2451Met)
c.7365C>G (p.Ile2455Met)
c.7344C>G (p.Ile2448Met)
c.6999C>G (p.Ile2333Met)
c.3345C>G (p.Ile1115Met)
c.7239C>G (p.Ile2413Met)
c.7230C>G (p.Ile2410Met)
c.7245C>G (p.Ile2415Met)
c.1542C>G (p.Ile514Met)
Xg.31774134G>TCA515859397DMDc.2214C>A (p.Ile738=)
c.-13C>A (n.-13C>A)
n.1029C>A
n.951C>A
n.860C>A
c.7368C>A (p.Ile2456=)
c.3336C>A (p.Ile1112=)
c.357C>A (p.Ile119=)
c.456C>A (p.Ile152=)
c.7356C>A (p.Ile2452=)
c.125C>A (n.125C>A)
c.7353C>A (p.Ile2451=)
c.7365C>A (p.Ile2455=)
c.7344C>A (p.Ile2448=)
c.6999C>A (p.Ile2333=)
c.3345C>A (p.Ile1115=)
c.7239C>A (p.Ile2413=)
c.7230C>A (p.Ile2410=)
c.7245C>A (p.Ile2415=)
c.1542C>A (p.Ile514=)
Xg.31774135A>CCA412659082DMDc.2213T>G (p.Ile738Ser)
c.-14T>G (n.-14T>G)
n.1028T>G
n.950T>G
n.859T>G
c.7367T>G (p.Ile2456Ser)
c.3335T>G (p.Ile1112Ser)
c.356T>G (p.Ile119Ser)
c.455T>G (p.Ile152Ser)
c.7355T>G (p.Ile2452Ser)
c.124T>G (n.124T>G)
c.7352T>G (p.Ile2451Ser)
c.7364T>G (p.Ile2455Ser)
c.7343T>G (p.Ile2448Ser)
c.6998T>G (p.Ile2333Ser)
c.3344T>G (p.Ile1115Ser)
c.7238T>G (p.Ile2413Ser)
c.7229T>G (p.Ile2410Ser)
c.7244T>G (p.Ile2415Ser)
c.1541T>G (p.Ile514Ser)
Xg.31774135A>GCA412659083DMDc.2213T>C (p.Ile738Thr)
c.-14T>C (n.-14T>C)
n.1028T>C
n.950T>C
n.859T>C
c.7367T>C (p.Ile2456Thr)
c.3335T>C (p.Ile1112Thr)
c.356T>C (p.Ile119Thr)
c.455T>C (p.Ile152Thr)
c.7355T>C (p.Ile2452Thr)
c.124T>C (n.124T>C)
c.7352T>C (p.Ile2451Thr)
c.7364T>C (p.Ile2455Thr)
c.7343T>C (p.Ile2448Thr)
c.6998T>C (p.Ile2333Thr)
c.3344T>C (p.Ile1115Thr)
c.7238T>C (p.Ile2413Thr)
c.7229T>C (p.Ile2410Thr)
c.7244T>C (p.Ile2415Thr)
c.1541T>C (p.Ile514Thr)
Xg.31774135A>TCA412659084DMDc.2213T>A (p.Ile738Asn)
c.-14T>A (n.-14T>A)
n.1028T>A
n.950T>A
n.859T>A
c.7367T>A (p.Ile2456Asn)
c.3335T>A (p.Ile1112Asn)
c.356T>A (p.Ile119Asn)
c.455T>A (p.Ile152Asn)
c.7355T>A (p.Ile2452Asn)
c.124T>A (n.124T>A)
c.7352T>A (p.Ile2451Asn)
c.7364T>A (p.Ile2455Asn)
c.7343T>A (p.Ile2448Asn)
c.6998T>A (p.Ile2333Asn)
c.3344T>A (p.Ile1115Asn)
c.7238T>A (p.Ile2413Asn)
c.7229T>A (p.Ile2410Asn)
c.7244T>A (p.Ile2415Asn)
c.1541T>A (p.Ile514Asn)
Xg.31774136T>ACA412659085DMDc.2212A>T (p.Ile738Phe)
c.-15A>T (n.-15A>T)
n.1027A>T
n.949A>T
n.858A>T
c.7366A>T (p.Ile2456Phe)
c.3334A>T (p.Ile1112Phe)
c.355A>T (p.Ile119Phe)
c.454A>T (p.Ile152Phe)
c.7354A>T (p.Ile2452Phe)
c.123A>T (n.123A>T)
c.7351A>T (p.Ile2451Phe)
c.7363A>T (p.Ile2455Phe)
c.7342A>T (p.Ile2448Phe)
c.6997A>T (p.Ile2333Phe)
c.3343A>T (p.Ile1115Phe)
c.7237A>T (p.Ile2413Phe)
c.7228A>T (p.Ile2410Phe)
c.7243A>T (p.Ile2415Phe)
c.1540A>T (p.Ile514Phe)
 gnomAD v4
Xg.31774136T>CCA412659086DMDc.2212A>G (p.Ile738Val)
c.-15A>G (n.-15A>G)
n.1027A>G
n.949A>G
n.858A>G
c.7366A>G (p.Ile2456Val)
c.3334A>G (p.Ile1112Val)
c.355A>G (p.Ile119Val)
c.454A>G (p.Ile152Val)
c.7354A>G (p.Ile2452Val)
c.123A>G (n.123A>G)
c.7351A>G (p.Ile2451Val)
c.7363A>G (p.Ile2455Val)
c.7342A>G (p.Ile2448Val)
c.6997A>G (p.Ile2333Val)
c.3343A>G (p.Ile1115Val)
c.7237A>G (p.Ile2413Val)
c.7228A>G (p.Ile2410Val)
c.7243A>G (p.Ile2415Val)
c.1540A>G (p.Ile514Val)
 ClinVar dbSNP gnomAD v4
Xg.31774136T>GCA412659087DMDc.2212A>C (p.Ile738Leu)
c.-15A>C (n.-15A>C)
n.1027A>C
n.949A>C
n.858A>C
c.7366A>C (p.Ile2456Leu)
c.3334A>C (p.Ile1112Leu)
c.355A>C (p.Ile119Leu)
c.454A>C (p.Ile152Leu)
c.7354A>C (p.Ile2452Leu)
c.123A>C (n.123A>C)
c.7351A>C (p.Ile2451Leu)
c.7363A>C (p.Ile2455Leu)
c.7342A>C (p.Ile2448Leu)
c.6997A>C (p.Ile2333Leu)
c.3343A>C (p.Ile1115Leu)
c.7237A>C (p.Ile2413Leu)
c.7228A>C (p.Ile2410Leu)
c.7243A>C (p.Ile2415Leu)
c.1540A>C (p.Ile514Leu)
Xg.31774136T=CA2422548663DMDc.2212A= (p.Ile738=)
c.-15A= (n.-15A=)
n.1027A=
n.949A=
n.858A=
c.7366A= (p.Ile2456=)
c.3334A= (p.Ile1112=)
c.355A= (p.Ile119=)
c.454A= (p.Ile152=)
c.7354A= (p.Ile2452=)
c.123A= (n.123A=)
c.7351A= (p.Ile2451=)
c.7363A= (p.Ile2455=)
c.7342A= (p.Ile2448=)
c.6997A= (p.Ile2333=)
c.3343A= (p.Ile1115=)
c.7237A= (p.Ile2413=)
c.7228A= (p.Ile2410=)
c.7243A= (p.Ile2415=)
c.1540A= (p.Ile514=)
Xg.31774137G>ACA515859400DMDc.2211C>T (p.Ala737=)
c.-16C>T (n.-16C>T)
n.1026C>T
n.948C>T
n.857C>T
c.7365C>T (p.Ala2455=)
c.3333C>T (p.Ala1111=)
c.354C>T (p.Ala118=)
c.453C>T (p.Ala151=)
c.7353C>T (p.Ala2451=)
c.122C>T (n.122C>T)
c.7350C>T (p.Ala2450=)
c.7362C>T (p.Ala2454=)
c.7341C>T (p.Ala2447=)
c.6996C>T (p.Ala2332=)
c.3342C>T (p.Ala1114=)
c.7236C>T (p.Ala2412=)
c.7227C>T (p.Ala2409=)
c.7242C>T (p.Ala2414=)
c.1539C>T (p.Ala513=)
 ClinVar dbSNP
Xg.31774137G>CCA515859398DMDc.2211C>G (p.Ala737=)
c.-16C>G (n.-16C>G)
n.1026C>G
n.948C>G
n.857C>G
c.7365C>G (p.Ala2455=)
c.3333C>G (p.Ala1111=)
c.354C>G (p.Ala118=)
c.453C>G (p.Ala151=)
c.7353C>G (p.Ala2451=)
c.122C>G (n.122C>G)
c.7350C>G (p.Ala2450=)
c.7362C>G (p.Ala2454=)
c.7341C>G (p.Ala2447=)
c.6996C>G (p.Ala2332=)
c.3342C>G (p.Ala1114=)
c.7236C>G (p.Ala2412=)
c.7227C>G (p.Ala2409=)
c.7242C>G (p.Ala2414=)
c.1539C>G (p.Ala513=)
Xg.31774137G>TCA515859399DMDc.2211C>A (p.Ala737=)
c.-16C>A (n.-16C>A)
n.1026C>A
n.948C>A
n.857C>A
c.7365C>A (p.Ala2455=)
c.3333C>A (p.Ala1111=)
c.354C>A (p.Ala118=)
c.453C>A (p.Ala151=)
c.7353C>A (p.Ala2451=)
c.122C>A (n.122C>A)
c.7350C>A (p.Ala2450=)
c.7362C>A (p.Ala2454=)
c.7341C>A (p.Ala2447=)
c.6996C>A (p.Ala2332=)
c.3342C>A (p.Ala1114=)
c.7236C>A (p.Ala2412=)
c.7227C>A (p.Ala2409=)
c.7242C>A (p.Ala2414=)
c.1539C>A (p.Ala513=)
Xg.31774138G>ACA412659089DMDc.2210C>T (p.Ala737Val)
c.-17C>T (n.-17C>T)
n.1025C>T
n.947C>T
n.856C>T
c.7364C>T (p.Ala2455Val)
c.3332C>T (p.Ala1111Val)
c.353C>T (p.Ala118Val)
c.452C>T (p.Ala151Val)
c.7352C>T (p.Ala2451Val)
c.121C>T (n.121C>T)
c.7349C>T (p.Ala2450Val)
c.7361C>T (p.Ala2454Val)
c.7340C>T (p.Ala2447Val)
c.6995C>T (p.Ala2332Val)
c.3341C>T (p.Ala1114Val)
c.7235C>T (p.Ala2412Val)
c.7226C>T (p.Ala2409Val)
c.7241C>T (p.Ala2414Val)
c.1538C>T (p.Ala513Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774138G>CCA412659090DMDc.2210C>G (p.Ala737Gly)
c.-17C>G (n.-17C>G)
n.1025C>G
n.947C>G
n.856C>G
c.7364C>G (p.Ala2455Gly)
c.3332C>G (p.Ala1111Gly)
c.353C>G (p.Ala118Gly)
c.452C>G (p.Ala151Gly)
c.7352C>G (p.Ala2451Gly)
c.121C>G (n.121C>G)
c.7349C>G (p.Ala2450Gly)
c.7361C>G (p.Ala2454Gly)
c.7340C>G (p.Ala2447Gly)
c.6995C>G (p.Ala2332Gly)
c.3341C>G (p.Ala1114Gly)
c.7235C>G (p.Ala2412Gly)
c.7226C>G (p.Ala2409Gly)
c.7241C>G (p.Ala2414Gly)
c.1538C>G (p.Ala513Gly)
Xg.31774138G=CA2422548664DMDc.2210C= (p.Ala737=)
c.-17C= (n.-17C=)
n.1025C=
n.947C=
n.856C=
c.7364C= (p.Ala2455=)
c.3332C= (p.Ala1111=)
c.353C= (p.Ala118=)
c.452C= (p.Ala151=)
c.7352C= (p.Ala2451=)
c.121C= (n.121C=)
c.7349C= (p.Ala2450=)
c.7361C= (p.Ala2454=)
c.7340C= (p.Ala2447=)
c.6995C= (p.Ala2332=)
c.3341C= (p.Ala1114=)
c.7235C= (p.Ala2412=)
c.7226C= (p.Ala2409=)
c.7241C= (p.Ala2414=)
c.1538C= (p.Ala513=)
Xg.31774138G>TCA412659088DMDc.2210C>A (p.Ala737Asp)
c.-17C>A (n.-17C>A)
n.1025C>A
n.947C>A
n.856C>A
c.7364C>A (p.Ala2455Asp)
c.3332C>A (p.Ala1111Asp)
c.353C>A (p.Ala118Asp)
c.452C>A (p.Ala151Asp)
c.7352C>A (p.Ala2451Asp)
c.121C>A (n.121C>A)
c.7349C>A (p.Ala2450Asp)
c.7361C>A (p.Ala2454Asp)
c.7340C>A (p.Ala2447Asp)
c.6995C>A (p.Ala2332Asp)
c.3341C>A (p.Ala1114Asp)
c.7235C>A (p.Ala2412Asp)
c.7226C>A (p.Ala2409Asp)
c.7241C>A (p.Ala2414Asp)
c.1538C>A (p.Ala513Asp)
Xg.31774139C>ACA412659091DMDc.2209G>T (p.Ala737Ser)
c.-18G>T (n.-18G>T)
n.1024G>T
n.946G>T
n.855G>T
c.7363G>T (p.Ala2455Ser)
c.3331G>T (p.Ala1111Ser)
c.352G>T (p.Ala118Ser)
c.451G>T (p.Ala151Ser)
c.7351G>T (p.Ala2451Ser)
c.120G>T (n.120G>T)
c.7348G>T (p.Ala2450Ser)
c.7360G>T (p.Ala2454Ser)
c.7339G>T (p.Ala2447Ser)
c.6994G>T (p.Ala2332Ser)
c.3340G>T (p.Ala1114Ser)
c.7234G>T (p.Ala2412Ser)
c.7225G>T (p.Ala2409Ser)
c.7240G>T (p.Ala2414Ser)
c.1537G>T (p.Ala513Ser)
Xg.31774139C=CA2422548665DMDc.2209G= (p.Ala737=)
c.-18G= (n.-18G=)
n.1024G=
n.946G=
n.855G=
c.7363G= (p.Ala2455=)
c.3331G= (p.Ala1111=)
c.352G= (p.Ala118=)
c.451G= (p.Ala151=)
c.7351G= (p.Ala2451=)
c.120G= (n.120G=)
c.7348G= (p.Ala2450=)
c.7360G= (p.Ala2454=)
c.7339G= (p.Ala2447=)
c.6994G= (p.Ala2332=)
c.3340G= (p.Ala1114=)
c.7234G= (p.Ala2412=)
c.7225G= (p.Ala2409=)
c.7240G= (p.Ala2414=)
c.1537G= (p.Ala513=)
Xg.31774139C>GCA412659092DMDc.2209G>C (p.Ala737Pro)
c.-18G>C (n.-18G>C)
n.1024G>C
n.946G>C
n.855G>C
c.7363G>C (p.Ala2455Pro)
c.3331G>C (p.Ala1111Pro)
c.352G>C (p.Ala118Pro)
c.451G>C (p.Ala151Pro)
c.7351G>C (p.Ala2451Pro)
c.120G>C (n.120G>C)
c.7348G>C (p.Ala2450Pro)
c.7360G>C (p.Ala2454Pro)
c.7339G>C (p.Ala2447Pro)
c.6994G>C (p.Ala2332Pro)
c.3340G>C (p.Ala1114Pro)
c.7234G>C (p.Ala2412Pro)
c.7225G>C (p.Ala2409Pro)
c.7240G>C (p.Ala2414Pro)
c.1537G>C (p.Ala513Pro)
 ClinVar dbSNP gnomAD v4
Xg.31774139C>TCA412659093DMDc.2209G>A (p.Ala737Thr)
c.-18G>A (n.-18G>A)
n.1024G>A
n.946G>A
n.855G>A
c.7363G>A (p.Ala2455Thr)
c.3331G>A (p.Ala1111Thr)
c.352G>A (p.Ala118Thr)
c.451G>A (p.Ala151Thr)
c.7351G>A (p.Ala2451Thr)
c.120G>A (n.120G>A)
c.7348G>A (p.Ala2450Thr)
c.7360G>A (p.Ala2454Thr)
c.7339G>A (p.Ala2447Thr)
c.6994G>A (p.Ala2332Thr)
c.3340G>A (p.Ala1114Thr)
c.7234G>A (p.Ala2412Thr)
c.7225G>A (p.Ala2409Thr)
c.7240G>A (p.Ala2414Thr)
c.1537G>A (p.Ala513Thr)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774140A>CCA515859401DMDc.2208T>G (p.Thr736=)
c.-19T>G (n.-19T>G)
n.1023T>G
n.945T>G
n.854T>G
c.7362T>G (p.Thr2454=)
c.3330T>G (p.Thr1110=)
c.351T>G (p.Thr117=)
c.450T>G (p.Thr150=)
c.7350T>G (p.Thr2450=)
c.119T>G (n.119T>G)
c.7347T>G (p.Thr2449=)
c.7359T>G (p.Thr2453=)
c.7338T>G (p.Thr2446=)
c.6993T>G (p.Thr2331=)
c.3339T>G (p.Thr1113=)
c.7233T>G (p.Thr2411=)
c.7224T>G (p.Thr2408=)
c.7239T>G (p.Thr2413=)
c.1536T>G (p.Thr512=)
 ClinVar
Xg.31774140A>GCA515859402DMDc.2208T>C (p.Thr736=)
c.-19T>C (n.-19T>C)
n.1023T>C
n.945T>C
n.854T>C
c.7362T>C (p.Thr2454=)
c.3330T>C (p.Thr1110=)
c.351T>C (p.Thr117=)
c.450T>C (p.Thr150=)
c.7350T>C (p.Thr2450=)
c.119T>C (n.119T>C)
c.7347T>C (p.Thr2449=)
c.7359T>C (p.Thr2453=)
c.7338T>C (p.Thr2446=)
c.6993T>C (p.Thr2331=)
c.3339T>C (p.Thr1113=)
c.7233T>C (p.Thr2411=)
c.7224T>C (p.Thr2408=)
c.7239T>C (p.Thr2413=)
c.1536T>C (p.Thr512=)
Xg.31774140A>TCA515859403DMDc.2208T>A (p.Thr736=)
c.-19T>A (n.-19T>A)
n.1023T>A
n.945T>A
n.854T>A
c.7362T>A (p.Thr2454=)
c.3330T>A (p.Thr1110=)
c.351T>A (p.Thr117=)
c.450T>A (p.Thr150=)
c.7350T>A (p.Thr2450=)
c.119T>A (n.119T>A)
c.7347T>A (p.Thr2449=)
c.7359T>A (p.Thr2453=)
c.7338T>A (p.Thr2446=)
c.6993T>A (p.Thr2331=)
c.3339T>A (p.Thr1113=)
c.7233T>A (p.Thr2411=)
c.7224T>A (p.Thr2408=)
c.7239T>A (p.Thr2413=)
c.1536T>A (p.Thr512=)
Xg.31774141G>ACA412659094DMDc.2207C>T (p.Thr736Ile)
c.-20C>T (n.-20C>T)
n.1022C>T
n.944C>T
n.853C>T
c.7361C>T (p.Thr2454Ile)
c.3329C>T (p.Thr1110Ile)
c.350C>T (p.Thr117Ile)
c.449C>T (p.Thr150Ile)
c.7349C>T (p.Thr2450Ile)
c.118C>T (n.118C>T)
c.7346C>T (p.Thr2449Ile)
c.7358C>T (p.Thr2453Ile)
c.7337C>T (p.Thr2446Ile)
c.6992C>T (p.Thr2331Ile)
c.3338C>T (p.Thr1113Ile)
c.7232C>T (p.Thr2411Ile)
c.7223C>T (p.Thr2408Ile)
c.7238C>T (p.Thr2413Ile)
c.1535C>T (p.Thr512Ile)
Xg.31774141G>CCA412659095DMDc.2207C>G (p.Thr736Ser)
c.-20C>G (n.-20C>G)
n.1022C>G
n.944C>G
n.853C>G
c.7361C>G (p.Thr2454Ser)
c.3329C>G (p.Thr1110Ser)
c.350C>G (p.Thr117Ser)
c.449C>G (p.Thr150Ser)
c.7349C>G (p.Thr2450Ser)
c.118C>G (n.118C>G)
c.7346C>G (p.Thr2449Ser)
c.7358C>G (p.Thr2453Ser)
c.7337C>G (p.Thr2446Ser)
c.6992C>G (p.Thr2331Ser)
c.3338C>G (p.Thr1113Ser)
c.7232C>G (p.Thr2411Ser)
c.7223C>G (p.Thr2408Ser)
c.7238C>G (p.Thr2413Ser)
c.1535C>G (p.Thr512Ser)
Xg.31774141G>TCA412659096DMDc.2207C>A (p.Thr736Asn)
c.-20C>A (n.-20C>A)
n.1022C>A
n.944C>A
n.853C>A
c.7361C>A (p.Thr2454Asn)
c.3329C>A (p.Thr1110Asn)
c.350C>A (p.Thr117Asn)
c.449C>A (p.Thr150Asn)
c.7349C>A (p.Thr2450Asn)
c.118C>A (n.118C>A)
c.7346C>A (p.Thr2449Asn)
c.7358C>A (p.Thr2453Asn)
c.7337C>A (p.Thr2446Asn)
c.6992C>A (p.Thr2331Asn)
c.3338C>A (p.Thr1113Asn)
c.7232C>A (p.Thr2411Asn)
c.7223C>A (p.Thr2408Asn)
c.7238C>A (p.Thr2413Asn)
c.1535C>A (p.Thr512Asn)
Xg.31774142T>ACA412659097DMDc.2206A>T (p.Thr736Ser)
c.-21A>T (n.-21A>T)
n.1021A>T
n.943A>T
n.852A>T
c.7360A>T (p.Thr2454Ser)
c.3328A>T (p.Thr1110Ser)
c.349A>T (p.Thr117Ser)
c.448A>T (p.Thr150Ser)
c.7348A>T (p.Thr2450Ser)
c.117A>T (n.117A>T)
c.7345A>T (p.Thr2449Ser)
c.7357A>T (p.Thr2453Ser)
c.7336A>T (p.Thr2446Ser)
c.6991A>T (p.Thr2331Ser)
c.3337A>T (p.Thr1113Ser)
c.7231A>T (p.Thr2411Ser)
c.7222A>T (p.Thr2408Ser)
c.7237A>T (p.Thr2413Ser)
c.1534A>T (p.Thr512Ser)
Xg.31774142T>CCA412659098DMDc.2206A>G (p.Thr736Ala)
c.-21A>G (n.-21A>G)
n.1021A>G
n.943A>G
n.852A>G
c.7360A>G (p.Thr2454Ala)
c.3328A>G (p.Thr1110Ala)
c.349A>G (p.Thr117Ala)
c.448A>G (p.Thr150Ala)
c.7348A>G (p.Thr2450Ala)
c.117A>G (n.117A>G)
c.7345A>G (p.Thr2449Ala)
c.7357A>G (p.Thr2453Ala)
c.7336A>G (p.Thr2446Ala)
c.6991A>G (p.Thr2331Ala)
c.3337A>G (p.Thr1113Ala)
c.7231A>G (p.Thr2411Ala)
c.7222A>G (p.Thr2408Ala)
c.7237A>G (p.Thr2413Ala)
c.1534A>G (p.Thr512Ala)
Xg.31774142T>GCA412659099DMDc.2206A>C (p.Thr736Pro)
c.-21A>C (n.-21A>C)
n.1021A>C
n.943A>C
n.852A>C
c.7360A>C (p.Thr2454Pro)
c.3328A>C (p.Thr1110Pro)
c.349A>C (p.Thr117Pro)
c.448A>C (p.Thr150Pro)
c.7348A>C (p.Thr2450Pro)
c.117A>C (n.117A>C)
c.7345A>C (p.Thr2449Pro)
c.7357A>C (p.Thr2453Pro)
c.7336A>C (p.Thr2446Pro)
c.6991A>C (p.Thr2331Pro)
c.3337A>C (p.Thr1113Pro)
c.7231A>C (p.Thr2411Pro)
c.7222A>C (p.Thr2408Pro)
c.7237A>C (p.Thr2413Pro)
c.1534A>C (p.Thr512Pro)
Xg.31774144dupCA2695232460DMDc.2206dup (p.Thr736AsnfsTer?)
c.-21dup (n.-21dup)
n.1021dup
n.943dup
n.852dup
c.7360dup (p.Thr2454AsnfsTer?)
c.3328dup (p.Thr1110AsnfsTer?)
c.349dup (p.Thr117AsnfsTer?)
c.448dup (p.Thr150AsnfsTer?)
c.7348dup (p.Thr2450AsnfsTer?)
c.117dup (n.117dup)
c.7345dup (p.Thr2449AsnfsTer?)
c.7357dup (p.Thr2453AsnfsTer?)
c.7336dup (p.Thr2446AsnfsTer?)
c.6991dup (p.Thr2331AsnfsTer?)
c.3337dup (p.Thr1113AsnfsTer?)
c.7231dup (p.Thr2411AsnfsTer?)
c.7222dup (p.Thr2408AsnfsTer?)
c.7237dup (p.Thr2413AsnfsTer?)
c.1534dup (p.Thr512AsnfsTer?)
Xg.31774143T>ACA412659100DMDc.2205A>T (p.Glu735Asp)
c.-22A>T (n.-22A>T)
n.1020A>T
n.942A>T
n.851A>T
c.7359A>T (p.Glu2453Asp)
c.3327A>T (p.Glu1109Asp)
c.348A>T (p.Glu116Asp)
c.447A>T (p.Glu149Asp)
c.7347A>T (p.Glu2449Asp)
c.116A>T (n.116A>T)
c.7344A>T (p.Glu2448Asp)
c.7356A>T (p.Glu2452Asp)
c.7335A>T (p.Glu2445Asp)
c.6990A>T (p.Glu2330Asp)
c.3336A>T (p.Glu1112Asp)
c.7230A>T (p.Glu2410Asp)
c.7221A>T (p.Glu2407Asp)
c.7236A>T (p.Glu2412Asp)
c.1533A>T (p.Glu511Asp)
Xg.31774143T>CCA10378284DMDc.2205A>G (p.Glu735=)
c.-22A>G (n.-22A>G)
n.1020A>G
n.942A>G
n.851A>G
c.7359A>G (p.Glu2453=)
c.3327A>G (p.Glu1109=)
c.348A>G (p.Glu116=)
c.447A>G (p.Glu149=)
c.7347A>G (p.Glu2449=)
c.116A>G (n.116A>G)
c.7344A>G (p.Glu2448=)
c.7356A>G (p.Glu2452=)
c.7335A>G (p.Glu2445=)
c.6990A>G (p.Glu2330=)
c.3336A>G (p.Glu1112=)
c.7230A>G (p.Glu2410=)
c.7221A>G (p.Glu2407=)
c.7236A>G (p.Glu2412=)
c.1533A>G (p.Glu511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774143T>GCA412659101DMDc.2205A>C (p.Glu735Asp)
c.-22A>C (n.-22A>C)
n.1020A>C
n.942A>C
n.851A>C
c.7359A>C (p.Glu2453Asp)
c.3327A>C (p.Glu1109Asp)
c.348A>C (p.Glu116Asp)
c.447A>C (p.Glu149Asp)
c.7347A>C (p.Glu2449Asp)
c.116A>C (n.116A>C)
c.7344A>C (p.Glu2448Asp)
c.7356A>C (p.Glu2452Asp)
c.7335A>C (p.Glu2445Asp)
c.6990A>C (p.Glu2330Asp)
c.3336A>C (p.Glu1112Asp)
c.7230A>C (p.Glu2410Asp)
c.7221A>C (p.Glu2407Asp)
c.7236A>C (p.Glu2412Asp)
c.1533A>C (p.Glu511Asp)
Xg.31774143T=CA2422548666DMDc.2205A= (p.Glu735=)
c.-22A= (n.-22A=)
n.1020A=
n.942A=
n.851A=
c.7359A= (p.Glu2453=)
c.3327A= (p.Glu1109=)
c.348A= (p.Glu116=)
c.447A= (p.Glu149=)
c.7347A= (p.Glu2449=)
c.116A= (n.116A=)
c.7344A= (p.Glu2448=)
c.7356A= (p.Glu2452=)
c.7335A= (p.Glu2445=)
c.6990A= (p.Glu2330=)
c.3336A= (p.Glu1112=)
c.7230A= (p.Glu2410=)
c.7221A= (p.Glu2407=)
c.7236A= (p.Glu2412=)
c.1533A= (p.Glu511=)
Xg.31774144T>ACA412659104DMDc.2204A>T (p.Glu735Val)
c.-23A>T (n.-23A>T)
n.1019A>T
n.941A>T
n.850A>T
c.7358A>T (p.Glu2453Val)
c.3326A>T (p.Glu1109Val)
c.347A>T (p.Glu116Val)
c.446A>T (p.Glu149Val)
c.7346A>T (p.Glu2449Val)
c.115A>T (n.115A>T)
c.7343A>T (p.Glu2448Val)
c.7355A>T (p.Glu2452Val)
c.7334A>T (p.Glu2445Val)
c.6989A>T (p.Glu2330Val)
c.3335A>T (p.Glu1112Val)
c.7229A>T (p.Glu2410Val)
c.7220A>T (p.Glu2407Val)
c.7235A>T (p.Glu2412Val)
c.1532A>T (p.Glu511Val)
Xg.31774144T>CCA412659102DMDc.2204A>G (p.Glu735Gly)
c.-23A>G (n.-23A>G)
n.1019A>G
n.941A>G
n.850A>G
c.7358A>G (p.Glu2453Gly)
c.3326A>G (p.Glu1109Gly)
c.347A>G (p.Glu116Gly)
c.446A>G (p.Glu149Gly)
c.7346A>G (p.Glu2449Gly)
c.115A>G (n.115A>G)
c.7343A>G (p.Glu2448Gly)
c.7355A>G (p.Glu2452Gly)
c.7334A>G (p.Glu2445Gly)
c.6989A>G (p.Glu2330Gly)
c.3335A>G (p.Glu1112Gly)
c.7229A>G (p.Glu2410Gly)
c.7220A>G (p.Glu2407Gly)
c.7235A>G (p.Glu2412Gly)
c.1532A>G (p.Glu511Gly)
Xg.31774144T>GCA412659103DMDc.2204A>C (p.Glu735Ala)
c.-23A>C (n.-23A>C)
n.1019A>C
n.941A>C
n.850A>C
c.7358A>C (p.Glu2453Ala)
c.3326A>C (p.Glu1109Ala)
c.347A>C (p.Glu116Ala)
c.446A>C (p.Glu149Ala)
c.7346A>C (p.Glu2449Ala)
c.115A>C (n.115A>C)
c.7343A>C (p.Glu2448Ala)
c.7355A>C (p.Glu2452Ala)
c.7334A>C (p.Glu2445Ala)
c.6989A>C (p.Glu2330Ala)
c.3335A>C (p.Glu1112Ala)
c.7229A>C (p.Glu2410Ala)
c.7220A>C (p.Glu2407Ala)
c.7235A>C (p.Glu2412Ala)
c.1532A>C (p.Glu511Ala)
Xg.31774145C>ACA412659105DMDc.2203G>T (p.Glu735Ter)
c.-24G>T (n.-24G>T)
n.1018G>T
n.940G>T
n.849G>T
c.7357G>T (p.Glu2453Ter)
c.3325G>T (p.Glu1109Ter)
c.346G>T (p.Glu116Ter)
c.445G>T (p.Glu149Ter)
c.7345G>T (p.Glu2449Ter)
c.114G>T (n.114G>T)
c.7342G>T (p.Glu2448Ter)
c.7354G>T (p.Glu2452Ter)
c.7333G>T (p.Glu2445Ter)
c.6988G>T (p.Glu2330Ter)
c.3334G>T (p.Glu1112Ter)
c.7228G>T (p.Glu2410Ter)
c.7219G>T (p.Glu2407Ter)
c.7234G>T (p.Glu2412Ter)
c.1531G>T (p.Glu511Ter)
Xg.31774145C>GCA412659106DMDc.2203G>C (p.Glu735Gln)
c.-24G>C (n.-24G>C)
n.1018G>C
n.940G>C
n.849G>C
c.7357G>C (p.Glu2453Gln)
c.3325G>C (p.Glu1109Gln)
c.346G>C (p.Glu116Gln)
c.445G>C (p.Glu149Gln)
c.7345G>C (p.Glu2449Gln)
c.114G>C (n.114G>C)
c.7342G>C (p.Glu2448Gln)
c.7354G>C (p.Glu2452Gln)
c.7333G>C (p.Glu2445Gln)
c.6988G>C (p.Glu2330Gln)
c.3334G>C (p.Glu1112Gln)
c.7228G>C (p.Glu2410Gln)
c.7219G>C (p.Glu2407Gln)
c.7234G>C (p.Glu2412Gln)
c.1531G>C (p.Glu511Gln)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774145C>TCA412659107DMDc.2203G>A (p.Glu735Lys)
c.-24G>A (n.-24G>A)
n.1018G>A
n.940G>A
n.849G>A
c.7357G>A (p.Glu2453Lys)
c.3325G>A (p.Glu1109Lys)
c.346G>A (p.Glu116Lys)
c.445G>A (p.Glu149Lys)
c.7345G>A (p.Glu2449Lys)
c.114G>A (n.114G>A)
c.7342G>A (p.Glu2448Lys)
c.7354G>A (p.Glu2452Lys)
c.7333G>A (p.Glu2445Lys)
c.6988G>A (p.Glu2330Lys)
c.3334G>A (p.Glu1112Lys)
c.7228G>A (p.Glu2410Lys)
c.7219G>A (p.Glu2407Lys)
c.7234G>A (p.Glu2412Lys)
c.1531G>A (p.Glu511Lys)
Xg.31774146C>ACA412659108DMDc.2202G>T (p.Lys734Asn)
c.-25G>T (n.-25G>T)
n.1017G>T
n.939G>T
n.848G>T
c.7356G>T (p.Lys2452Asn)
c.3324G>T (p.Lys1108Asn)
c.345G>T (p.Lys115Asn)
c.444G>T (p.Lys148Asn)
c.7344G>T (p.Lys2448Asn)
c.113G>T (n.113G>T)
c.7341G>T (p.Lys2447Asn)
c.7353G>T (p.Lys2451Asn)
c.7332G>T (p.Lys2444Asn)
c.6987G>T (p.Lys2329Asn)
c.3333G>T (p.Lys1111Asn)
c.7227G>T (p.Lys2409Asn)
c.7218G>T (p.Lys2406Asn)
c.7233G>T (p.Lys2411Asn)
c.1530G>T (p.Lys510Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774146C>GCA412659109DMDc.2202G>C (p.Lys734Asn)
c.-25G>C (n.-25G>C)
n.1017G>C
n.939G>C
n.848G>C
c.7356G>C (p.Lys2452Asn)
c.3324G>C (p.Lys1108Asn)
c.345G>C (p.Lys115Asn)
c.444G>C (p.Lys148Asn)
c.7344G>C (p.Lys2448Asn)
c.113G>C (n.113G>C)
c.7341G>C (p.Lys2447Asn)
c.7353G>C (p.Lys2451Asn)
c.7332G>C (p.Lys2444Asn)
c.6987G>C (p.Lys2329Asn)
c.3333G>C (p.Lys1111Asn)
c.7227G>C (p.Lys2409Asn)
c.7218G>C (p.Lys2406Asn)
c.7233G>C (p.Lys2411Asn)
c.1530G>C (p.Lys510Asn)
Xg.31774146C>TCA515859404DMDc.2202G>A (p.Lys734=)
c.-25G>A (n.-25G>A)
n.1017G>A
n.939G>A
n.848G>A
c.7356G>A (p.Lys2452=)
c.3324G>A (p.Lys1108=)
c.345G>A (p.Lys115=)
c.444G>A (p.Lys148=)
c.7344G>A (p.Lys2448=)
c.113G>A (n.113G>A)
c.7341G>A (p.Lys2447=)
c.7353G>A (p.Lys2451=)
c.7332G>A (p.Lys2444=)
c.6987G>A (p.Lys2329=)
c.3333G>A (p.Lys1111=)
c.7227G>A (p.Lys2409=)
c.7218G>A (p.Lys2406=)
c.7233G>A (p.Lys2411=)
c.1530G>A (p.Lys510=)
 gnomAD v4
Xg.31774147T>ACA412659110DMDc.2201A>T (p.Lys734Met)
c.-26A>T (n.-26A>T)
n.1016A>T
n.938A>T
n.847A>T
c.7355A>T (p.Lys2452Met)
c.3323A>T (p.Lys1108Met)
c.344A>T (p.Lys115Met)
c.443A>T (p.Lys148Met)
c.7343A>T (p.Lys2448Met)
c.112A>T (n.112A>T)
c.7340A>T (p.Lys2447Met)
c.7352A>T (p.Lys2451Met)
c.7331A>T (p.Lys2444Met)
c.6986A>T (p.Lys2329Met)
c.3332A>T (p.Lys1111Met)
c.7226A>T (p.Lys2409Met)
c.7217A>T (p.Lys2406Met)
c.7232A>T (p.Lys2411Met)
c.1529A>T (p.Lys510Met)
Xg.31774147T>CCA412659111DMDc.2201A>G (p.Lys734Arg)
c.-26A>G (n.-26A>G)
n.1016A>G
n.938A>G
n.847A>G
c.7355A>G (p.Lys2452Arg)
c.3323A>G (p.Lys1108Arg)
c.344A>G (p.Lys115Arg)
c.443A>G (p.Lys148Arg)
c.7343A>G (p.Lys2448Arg)
c.112A>G (n.112A>G)
c.7340A>G (p.Lys2447Arg)
c.7352A>G (p.Lys2451Arg)
c.7331A>G (p.Lys2444Arg)
c.6986A>G (p.Lys2329Arg)
c.3332A>G (p.Lys1111Arg)
c.7226A>G (p.Lys2409Arg)
c.7217A>G (p.Lys2406Arg)
c.7232A>G (p.Lys2411Arg)
c.1529A>G (p.Lys510Arg)
 gnomAD v4
Xg.31774147T>GCA412659112DMDc.2201A>C (p.Lys734Thr)
c.-26A>C (n.-26A>C)
n.1016A>C
n.938A>C
n.847A>C
c.7355A>C (p.Lys2452Thr)
c.3323A>C (p.Lys1108Thr)
c.344A>C (p.Lys115Thr)
c.443A>C (p.Lys148Thr)
c.7343A>C (p.Lys2448Thr)
c.112A>C (n.112A>C)
c.7340A>C (p.Lys2447Thr)
c.7352A>C (p.Lys2451Thr)
c.7331A>C (p.Lys2444Thr)
c.6986A>C (p.Lys2329Thr)
c.3332A>C (p.Lys1111Thr)
c.7226A>C (p.Lys2409Thr)
c.7217A>C (p.Lys2406Thr)
c.7232A>C (p.Lys2411Thr)
c.1529A>C (p.Lys510Thr)
Xg.31774148T>ACA412659113DMDc.2200A>T (p.Lys734Ter)
c.-27A>T (n.-27A>T)
n.1015A>T
n.937A>T
n.846A>T
c.7354A>T (p.Lys2452Ter)
c.3322A>T (p.Lys1108Ter)
c.343A>T (p.Lys115Ter)
c.442A>T (p.Lys148Ter)
c.7342A>T (p.Lys2448Ter)
c.111A>T (n.111A>T)
c.7339A>T (p.Lys2447Ter)
c.7351A>T (p.Lys2451Ter)
c.7330A>T (p.Lys2444Ter)
c.6985A>T (p.Lys2329Ter)
c.3331A>T (p.Lys1111Ter)
c.7225A>T (p.Lys2409Ter)
c.7216A>T (p.Lys2406Ter)
c.7231A>T (p.Lys2411Ter)
c.1528A>T (p.Lys510Ter)
Xg.31774148T>CCA10605886DMDc.2200A>G (p.Lys734Glu)
c.-27A>G (n.-27A>G)
n.1015A>G
n.937A>G
n.846A>G
c.7354A>G (p.Lys2452Glu)
c.3322A>G (p.Lys1108Glu)
c.343A>G (p.Lys115Glu)
c.442A>G (p.Lys148Glu)
c.7342A>G (p.Lys2448Glu)
c.111A>G (n.111A>G)
c.7339A>G (p.Lys2447Glu)
c.7351A>G (p.Lys2451Glu)
c.7330A>G (p.Lys2444Glu)
c.6985A>G (p.Lys2329Glu)
c.3331A>G (p.Lys1111Glu)
c.7225A>G (p.Lys2409Glu)
c.7216A>G (p.Lys2406Glu)
c.7231A>G (p.Lys2411Glu)
c.1528A>G (p.Lys510Glu)
 ClinVar dbSNP gnomAD v4
Xg.31774148T>GCA412659114DMDc.2200A>C (p.Lys734Gln)
c.-27A>C (n.-27A>C)
n.1015A>C
n.937A>C
n.846A>C
c.7354A>C (p.Lys2452Gln)
c.3322A>C (p.Lys1108Gln)
c.343A>C (p.Lys115Gln)
c.442A>C (p.Lys148Gln)
c.7342A>C (p.Lys2448Gln)
c.111A>C (n.111A>C)
c.7339A>C (p.Lys2447Gln)
c.7351A>C (p.Lys2451Gln)
c.7330A>C (p.Lys2444Gln)
c.6985A>C (p.Lys2329Gln)
c.3331A>C (p.Lys1111Gln)
c.7225A>C (p.Lys2409Gln)
c.7216A>C (p.Lys2406Gln)
c.7231A>C (p.Lys2411Gln)
c.1528A>C (p.Lys510Gln)
Xg.31774148T=CA2422548667DMDc.2200A= (p.Lys734=)
c.-27A= (n.-27A=)
n.1015A=
n.937A=
n.846A=
c.7354A= (p.Lys2452=)
c.3322A= (p.Lys1108=)
c.343A= (p.Lys115=)
c.442A= (p.Lys148=)
c.7342A= (p.Lys2448=)
c.111A= (n.111A=)
c.7339A= (p.Lys2447=)
c.7351A= (p.Lys2451=)
c.7330A= (p.Lys2444=)
c.6985A= (p.Lys2329=)
c.3331A= (p.Lys1111=)
c.7225A= (p.Lys2409=)
c.7216A= (p.Lys2406=)
c.7231A= (p.Lys2411=)
c.1528A= (p.Lys510=)
Xg.31774149A>CCA515859405DMDc.2199T>G (p.Thr733=)
c.-28T>G (n.-28T>G)
n.1014T>G
n.936T>G
n.845T>G
c.7353T>G (p.Thr2451=)
c.3321T>G (p.Thr1107=)
c.342T>G (p.Thr114=)
c.441T>G (p.Thr147=)
c.7341T>G (p.Thr2447=)
c.110T>G (n.110T>G)
c.7338T>G (p.Thr2446=)
c.7350T>G (p.Thr2450=)
c.7329T>G (p.Thr2443=)
c.6984T>G (p.Thr2328=)
c.3330T>G (p.Thr1110=)
c.7224T>G (p.Thr2408=)
c.7215T>G (p.Thr2405=)
c.7230T>G (p.Thr2410=)
c.1527T>G (p.Thr509=)
Xg.31774149A>GCA515859406DMDc.2199T>C (p.Thr733=)
c.-28T>C (n.-28T>C)
n.1014T>C
n.936T>C
n.845T>C
c.7353T>C (p.Thr2451=)
c.3321T>C (p.Thr1107=)
c.342T>C (p.Thr114=)
c.441T>C (p.Thr147=)
c.7341T>C (p.Thr2447=)
c.110T>C (n.110T>C)
c.7338T>C (p.Thr2446=)
c.7350T>C (p.Thr2450=)
c.7329T>C (p.Thr2443=)
c.6984T>C (p.Thr2328=)
c.3330T>C (p.Thr1110=)
c.7224T>C (p.Thr2408=)
c.7215T>C (p.Thr2405=)
c.7230T>C (p.Thr2410=)
c.1527T>C (p.Thr509=)
 ClinVar dbSNP
Xg.31774149A>TCA515859407DMDc.2199T>A (p.Thr733=)
c.-28T>A (n.-28T>A)
n.1014T>A
n.936T>A
n.845T>A
c.7353T>A (p.Thr2451=)
c.3321T>A (p.Thr1107=)
c.342T>A (p.Thr114=)
c.441T>A (p.Thr147=)
c.7341T>A (p.Thr2447=)
c.110T>A (n.110T>A)
c.7338T>A (p.Thr2446=)
c.7350T>A (p.Thr2450=)
c.7329T>A (p.Thr2443=)
c.6984T>A (p.Thr2328=)
c.3330T>A (p.Thr1110=)
c.7224T>A (p.Thr2408=)
c.7215T>A (p.Thr2405=)
c.7230T>A (p.Thr2410=)
c.1527T>A (p.Thr509=)
Xg.31774149dupCA2695232461DMDc.2199dup (p.Lys734Ter)
c.-28dup (n.-28dup)
n.1014dup
n.936dup
n.845dup
c.7353dup (p.Lys2452Ter)
c.3321dup (p.Lys1108Ter)
c.342dup (p.Lys115Ter)
c.441dup (p.Lys148Ter)
c.7341dup (p.Lys2448Ter)
c.110dup (n.110dup)
c.7338dup (p.Lys2447Ter)
c.7350dup (p.Lys2451Ter)
c.7329dup (p.Lys2444Ter)
c.6984dup (p.Lys2329Ter)
c.3330dup (p.Lys1111Ter)
c.7224dup (p.Lys2409Ter)
c.7215dup (p.Lys2406Ter)
c.7230dup (p.Lys2411Ter)
c.1527dup (p.Lys510Ter)
Xg.31774150G>ACA412659116DMDc.2198C>T (p.Thr733Ile)
c.-29C>T (n.-29C>T)
n.1013C>T
n.935C>T
n.844C>T
c.7352C>T (p.Thr2451Ile)
c.3320C>T (p.Thr1107Ile)
c.341C>T (p.Thr114Ile)
c.440C>T (p.Thr147Ile)
c.7340C>T (p.Thr2447Ile)
c.109C>T (n.109C>T)
c.7337C>T (p.Thr2446Ile)
c.7349C>T (p.Thr2450Ile)
c.7328C>T (p.Thr2443Ile)
c.6983C>T (p.Thr2328Ile)
c.3329C>T (p.Thr1110Ile)
c.7223C>T (p.Thr2408Ile)
c.7214C>T (p.Thr2405Ile)
c.7229C>T (p.Thr2410Ile)
c.1526C>T (p.Thr509Ile)
Xg.31774150G>CCA412659117DMDc.2198C>G (p.Thr733Ser)
c.-29C>G (n.-29C>G)
n.1013C>G
n.935C>G
n.844C>G
c.7352C>G (p.Thr2451Ser)
c.3320C>G (p.Thr1107Ser)
c.341C>G (p.Thr114Ser)
c.440C>G (p.Thr147Ser)
c.7340C>G (p.Thr2447Ser)
c.109C>G (n.109C>G)
c.7337C>G (p.Thr2446Ser)
c.7349C>G (p.Thr2450Ser)
c.7328C>G (p.Thr2443Ser)
c.6983C>G (p.Thr2328Ser)
c.3329C>G (p.Thr1110Ser)
c.7223C>G (p.Thr2408Ser)
c.7214C>G (p.Thr2405Ser)
c.7229C>G (p.Thr2410Ser)
c.1526C>G (p.Thr509Ser)
Xg.31774150G>TCA412659115DMDc.2198C>A (p.Thr733Asn)
c.-29C>A (n.-29C>A)
n.1013C>A
n.935C>A
n.844C>A
c.7352C>A (p.Thr2451Asn)
c.3320C>A (p.Thr1107Asn)
c.341C>A (p.Thr114Asn)
c.440C>A (p.Thr147Asn)
c.7340C>A (p.Thr2447Asn)
c.109C>A (n.109C>A)
c.7337C>A (p.Thr2446Asn)
c.7349C>A (p.Thr2450Asn)
c.7328C>A (p.Thr2443Asn)
c.6983C>A (p.Thr2328Asn)
c.3329C>A (p.Thr1110Asn)
c.7223C>A (p.Thr2408Asn)
c.7214C>A (p.Thr2405Asn)
c.7229C>A (p.Thr2410Asn)
c.1526C>A (p.Thr509Asn)
Xg.31774151T>ACA412659119DMDc.2197A>T (p.Thr733Ser)
c.-30A>T (n.-30A>T)
n.1012A>T
n.934A>T
n.843A>T
c.7351A>T (p.Thr2451Ser)
c.3319A>T (p.Thr1107Ser)
c.340A>T (p.Thr114Ser)
c.439A>T (p.Thr147Ser)
c.7339A>T (p.Thr2447Ser)
c.108A>T (n.108A>T)
c.7336A>T (p.Thr2446Ser)
c.7348A>T (p.Thr2450Ser)
c.7327A>T (p.Thr2443Ser)
c.6982A>T (p.Thr2328Ser)
c.3328A>T (p.Thr1110Ser)
c.7222A>T (p.Thr2408Ser)
c.7213A>T (p.Thr2405Ser)
c.7228A>T (p.Thr2410Ser)
c.1525A>T (p.Thr509Ser)
Xg.31774151T>CCA412659118DMDc.2197A>G (p.Thr733Ala)
c.-30A>G (n.-30A>G)
n.1012A>G
n.934A>G
n.843A>G
c.7351A>G (p.Thr2451Ala)
c.3319A>G (p.Thr1107Ala)
c.340A>G (p.Thr114Ala)
c.439A>G (p.Thr147Ala)
c.7339A>G (p.Thr2447Ala)
c.108A>G (n.108A>G)
c.7336A>G (p.Thr2446Ala)
c.7348A>G (p.Thr2450Ala)
c.7327A>G (p.Thr2443Ala)
c.6982A>G (p.Thr2328Ala)
c.3328A>G (p.Thr1110Ala)
c.7222A>G (p.Thr2408Ala)
c.7213A>G (p.Thr2405Ala)
c.7228A>G (p.Thr2410Ala)
c.1525A>G (p.Thr509Ala)
 ClinVar
Xg.31774151T>GCA412659120DMDc.2197A>C (p.Thr733Pro)
c.-30A>C (n.-30A>C)
n.1012A>C
n.934A>C
n.843A>C
c.7351A>C (p.Thr2451Pro)
c.3319A>C (p.Thr1107Pro)
c.340A>C (p.Thr114Pro)
c.439A>C (p.Thr147Pro)
c.7339A>C (p.Thr2447Pro)
c.108A>C (n.108A>C)
c.7336A>C (p.Thr2446Pro)
c.7348A>C (p.Thr2450Pro)
c.7327A>C (p.Thr2443Pro)
c.6982A>C (p.Thr2328Pro)
c.3328A>C (p.Thr1110Pro)
c.7222A>C (p.Thr2408Pro)
c.7213A>C (p.Thr2405Pro)
c.7228A>C (p.Thr2410Pro)
c.1525A>C (p.Thr509Pro)
Xg.31774152A>CCA515859408DMDc.2196T>G (p.Val732=)
c.-31T>G (n.-31T>G)
n.1011T>G
n.933T>G
n.842T>G
c.7350T>G (p.Val2450=)
c.3318T>G (p.Val1106=)
c.339T>G (p.Val113=)
c.438T>G (p.Val146=)
c.7338T>G (p.Val2446=)
c.107T>G (n.107T>G)
c.7335T>G (p.Val2445=)
c.7347T>G (p.Val2449=)
c.7326T>G (p.Val2442=)
c.6981T>G (p.Val2327=)
c.3327T>G (p.Val1109=)
c.7221T>G (p.Val2407=)
c.7212T>G (p.Val2404=)
c.7227T>G (p.Val2409=)
c.1524T>G (p.Val508=)
Xg.31774152A>GCA515859409DMDc.2196T>C (p.Val732=)
c.-31T>C (n.-31T>C)
n.1011T>C
n.933T>C
n.842T>C
c.7350T>C (p.Val2450=)
c.3318T>C (p.Val1106=)
c.339T>C (p.Val113=)
c.438T>C (p.Val146=)
c.7338T>C (p.Val2446=)
c.107T>C (n.107T>C)
c.7335T>C (p.Val2445=)
c.7347T>C (p.Val2449=)
c.7326T>C (p.Val2442=)
c.6981T>C (p.Val2327=)
c.3327T>C (p.Val1109=)
c.7221T>C (p.Val2407=)
c.7212T>C (p.Val2404=)
c.7227T>C (p.Val2409=)
c.1524T>C (p.Val508=)
Xg.31774152A>TCA515859410DMDc.2196T>A (p.Val732=)
c.-31T>A (n.-31T>A)
n.1011T>A
n.933T>A
n.842T>A
c.7350T>A (p.Val2450=)
c.3318T>A (p.Val1106=)
c.339T>A (p.Val113=)
c.438T>A (p.Val146=)
c.7338T>A (p.Val2446=)
c.107T>A (n.107T>A)
c.7335T>A (p.Val2445=)
c.7347T>A (p.Val2449=)
c.7326T>A (p.Val2442=)
c.6981T>A (p.Val2327=)
c.3327T>A (p.Val1109=)
c.7221T>A (p.Val2407=)
c.7212T>A (p.Val2404=)
c.7227T>A (p.Val2409=)
c.1524T>A (p.Val508=)
Xg.31774153A>CCA412659121DMDc.2195T>G (p.Val732Gly)
c.-32T>G (n.-32T>G)
n.1010T>G
n.932T>G
n.841T>G
c.7349T>G (p.Val2450Gly)
c.3317T>G (p.Val1106Gly)
c.338T>G (p.Val113Gly)
c.437T>G (p.Val146Gly)
c.7337T>G (p.Val2446Gly)
c.106T>G (n.106T>G)
c.7334T>G (p.Val2445Gly)
c.7346T>G (p.Val2449Gly)
c.7325T>G (p.Val2442Gly)
c.6980T>G (p.Val2327Gly)
c.3326T>G (p.Val1109Gly)
c.7220T>G (p.Val2407Gly)
c.7211T>G (p.Val2404Gly)
c.7226T>G (p.Val2409Gly)
c.1523T>G (p.Val508Gly)
Xg.31774153A>GCA412659123DMDc.2195T>C (p.Val732Ala)
c.-32T>C (n.-32T>C)
n.1010T>C
n.932T>C
n.841T>C
c.7349T>C (p.Val2450Ala)
c.3317T>C (p.Val1106Ala)
c.338T>C (p.Val113Ala)
c.437T>C (p.Val146Ala)
c.7337T>C (p.Val2446Ala)
c.106T>C (n.106T>C)
c.7334T>C (p.Val2445Ala)
c.7346T>C (p.Val2449Ala)
c.7325T>C (p.Val2442Ala)
c.6980T>C (p.Val2327Ala)
c.3326T>C (p.Val1109Ala)
c.7220T>C (p.Val2407Ala)
c.7211T>C (p.Val2404Ala)
c.7226T>C (p.Val2409Ala)
c.1523T>C (p.Val508Ala)
Xg.31774153A>TCA412659122DMDc.2195T>A (p.Val732Asp)
c.-32T>A (n.-32T>A)
n.1010T>A
n.932T>A
n.841T>A
c.7349T>A (p.Val2450Asp)
c.3317T>A (p.Val1106Asp)
c.338T>A (p.Val113Asp)
c.437T>A (p.Val146Asp)
c.7337T>A (p.Val2446Asp)
c.106T>A (n.106T>A)
c.7334T>A (p.Val2445Asp)
c.7346T>A (p.Val2449Asp)
c.7325T>A (p.Val2442Asp)
c.6980T>A (p.Val2327Asp)
c.3326T>A (p.Val1109Asp)
c.7220T>A (p.Val2407Asp)
c.7211T>A (p.Val2404Asp)
c.7226T>A (p.Val2409Asp)
c.1523T>A (p.Val508Asp)
Xg.31774154C>ACA412659124DMDc.2194G>T (p.Val732Phe)
c.-33G>T (n.-33G>T)
n.1009G>T
n.931G>T
n.840G>T
c.7348G>T (p.Val2450Phe)
c.3316G>T (p.Val1106Phe)
c.337G>T (p.Val113Phe)
c.436G>T (p.Val146Phe)
c.7336G>T (p.Val2446Phe)
c.105G>T (n.105G>T)
c.7333G>T (p.Val2445Phe)
c.7345G>T (p.Val2449Phe)
c.7324G>T (p.Val2442Phe)
c.6979G>T (p.Val2327Phe)
c.3325G>T (p.Val1109Phe)
c.7219G>T (p.Val2407Phe)
c.7210G>T (p.Val2404Phe)
c.7225G>T (p.Val2409Phe)
c.1522G>T (p.Val508Phe)
Xg.31774154C=CA2422548668DMDc.2194G= (p.Val732=)
c.-33G= (n.-33G=)
n.1009G=
n.931G=
n.840G=
c.7348G= (p.Val2450=)
c.3316G= (p.Val1106=)
c.337G= (p.Val113=)
c.436G= (p.Val146=)
c.7336G= (p.Val2446=)
c.105G= (n.105G=)
c.7333G= (p.Val2445=)
c.7345G= (p.Val2449=)
c.7324G= (p.Val2442=)
c.6979G= (p.Val2327=)
c.3325G= (p.Val1109=)
c.7219G= (p.Val2407=)
c.7210G= (p.Val2404=)
c.7225G= (p.Val2409=)
c.1522G= (p.Val508=)
Xg.31774154C>GCA412659125DMDc.2194G>C (p.Val732Leu)
c.-33G>C (n.-33G>C)
n.1009G>C
n.931G>C
n.840G>C
c.7348G>C (p.Val2450Leu)
c.3316G>C (p.Val1106Leu)
c.337G>C (p.Val113Leu)
c.436G>C (p.Val146Leu)
c.7336G>C (p.Val2446Leu)
c.105G>C (n.105G>C)
c.7333G>C (p.Val2445Leu)
c.7345G>C (p.Val2449Leu)
c.7324G>C (p.Val2442Leu)
c.6979G>C (p.Val2327Leu)
c.3325G>C (p.Val1109Leu)
c.7219G>C (p.Val2407Leu)
c.7210G>C (p.Val2404Leu)
c.7225G>C (p.Val2409Leu)
c.1522G>C (p.Val508Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31774154C>TCA412659126DMDc.2194G>A (p.Val732Ile)
c.-33G>A (n.-33G>A)
n.1009G>A
n.931G>A
n.840G>A
c.7348G>A (p.Val2450Ile)
c.3316G>A (p.Val1106Ile)
c.337G>A (p.Val113Ile)
c.436G>A (p.Val146Ile)
c.7336G>A (p.Val2446Ile)
c.105G>A (n.105G>A)
c.7333G>A (p.Val2445Ile)
c.7345G>A (p.Val2449Ile)
c.7324G>A (p.Val2442Ile)
c.6979G>A (p.Val2327Ile)
c.3325G>A (p.Val1109Ile)
c.7219G>A (p.Val2407Ile)
c.7210G>A (p.Val2404Ile)
c.7225G>A (p.Val2409Ile)
c.1522G>A (p.Val508Ile)
Xg.31774155dupCA2695232464DMDc.2194dup (p.Val732GlyfsTer3)
c.-33dup (n.-33dup)
n.1009dup
n.931dup
n.840dup
c.7348dup (p.Val2450GlyfsTer3)
c.3316dup (p.Val1106GlyfsTer3)
c.337dup (p.Val113GlyfsTer3)
c.436dup (p.Val146GlyfsTer3)
c.7336dup (p.Val2446GlyfsTer3)
c.105dup (n.105dup)
c.7333dup (p.Val2445GlyfsTer3)
c.7345dup (p.Val2449GlyfsTer3)
c.7324dup (p.Val2442GlyfsTer3)
c.6979dup (p.Val2327GlyfsTer3)
c.3325dup (p.Val1109GlyfsTer3)
c.7219dup (p.Val2407GlyfsTer3)
c.7210dup (p.Val2404GlyfsTer3)
c.7225dup (p.Val2409GlyfsTer3)
c.1522dup (p.Val508GlyfsTer3)
Xg.31774155delCA2695232463DMDc.2194del (p.Val732LeufsTer10)
c.-33del (n.-33del)
n.1009del
n.931del
n.840del
c.7348del (p.Val2450LeufsTer10)
c.3316del (p.Val1106LeufsTer10)
c.337del (p.Val113LeufsTer10)
c.436del (p.Val146LeufsTer10)
c.7336del (p.Val2446LeufsTer10)
c.105del (n.105del)
c.7333del (p.Val2445LeufsTer10)
c.7345del (p.Val2449LeufsTer10)
c.7324del (p.Val2442LeufsTer10)
c.6979del (p.Val2327LeufsTer10)
c.3325del (p.Val1109LeufsTer10)
c.7219del (p.Val2407LeufsTer10)
c.7210del (p.Val2404LeufsTer10)
c.7225del (p.Val2409LeufsTer10)
c.1522del (p.Val508LeufsTer10)
Xg.31774155C>ACA515859411DMDc.2193G>T (p.Val731=)
c.-34G>T (n.-34G>T)
n.1008G>T
n.930G>T
n.839G>T
c.7347G>T (p.Val2449=)
c.3315G>T (p.Val1105=)
c.336G>T (p.Val112=)
c.435G>T (p.Val145=)
c.7335G>T (p.Val2445=)
c.104G>T (n.104G>T)
c.7332G>T (p.Val2444=)
c.7344G>T (p.Val2448=)
c.7323G>T (p.Val2441=)
c.6978G>T (p.Val2326=)
c.3324G>T (p.Val1108=)
c.7218G>T (p.Val2406=)
c.7209G>T (p.Val2403=)
c.7224G>T (p.Val2408=)
c.1521G>T (p.Val507=)
Xg.31774155C>GCA515859412DMDc.2193G>C (p.Val731=)
c.-34G>C (n.-34G>C)
n.1008G>C
n.930G>C
n.839G>C
c.7347G>C (p.Val2449=)
c.3315G>C (p.Val1105=)
c.336G>C (p.Val112=)
c.435G>C (p.Val145=)
c.7335G>C (p.Val2445=)
c.104G>C (n.104G>C)
c.7332G>C (p.Val2444=)
c.7344G>C (p.Val2448=)
c.7323G>C (p.Val2441=)
c.6978G>C (p.Val2326=)
c.3324G>C (p.Val1108=)
c.7218G>C (p.Val2406=)
c.7209G>C (p.Val2403=)
c.7224G>C (p.Val2408=)
c.1521G>C (p.Val507=)
 gnomAD v4
Xg.31774155C>TCA515859413DMDc.2193G>A (p.Val731=)
c.-34G>A (n.-34G>A)
n.1008G>A
n.930G>A
n.839G>A
c.7347G>A (p.Val2449=)
c.3315G>A (p.Val1105=)
c.336G>A (p.Val112=)
c.435G>A (p.Val145=)
c.7335G>A (p.Val2445=)
c.104G>A (n.104G>A)
c.7332G>A (p.Val2444=)
c.7344G>A (p.Val2448=)
c.7323G>A (p.Val2441=)
c.6978G>A (p.Val2326=)
c.3324G>A (p.Val1108=)
c.7218G>A (p.Val2406=)
c.7209G>A (p.Val2403=)
c.7224G>A (p.Val2408=)
c.1521G>A (p.Val507=)
Xg.31774156A=CA2422548669DMDc.2192T= (p.Val731=)
c.-35T= (n.-35T=)
n.1007T=
n.929T=
n.838T=
c.7346T= (p.Val2449=)
c.3314T= (p.Val1105=)
c.335T= (p.Val112=)
c.434T= (p.Val145=)
c.7334T= (p.Val2445=)
c.103T= (n.103T=)
c.7331T= (p.Val2444=)
c.7343T= (p.Val2448=)
c.7322T= (p.Val2441=)
c.6977T= (p.Val2326=)
c.3323T= (p.Val1108=)
c.7217T= (p.Val2406=)
c.7208T= (p.Val2403=)
c.7223T= (p.Val2408=)
c.1520T= (p.Val507=)
Xg.31774156A>CCA412659127DMDc.2192T>G (p.Val731Gly)
c.-35T>G (n.-35T>G)
n.1007T>G
n.929T>G
n.838T>G
c.7346T>G (p.Val2449Gly)
c.3314T>G (p.Val1105Gly)
c.335T>G (p.Val112Gly)
c.434T>G (p.Val145Gly)
c.7334T>G (p.Val2445Gly)
c.103T>G (n.103T>G)
c.7331T>G (p.Val2444Gly)
c.7343T>G (p.Val2448Gly)
c.7322T>G (p.Val2441Gly)
c.6977T>G (p.Val2326Gly)
c.3323T>G (p.Val1108Gly)
c.7217T>G (p.Val2406Gly)
c.7208T>G (p.Val2403Gly)
c.7223T>G (p.Val2408Gly)
c.1520T>G (p.Val507Gly)
Xg.31774156A>GCA412659128DMDc.2192T>C (p.Val731Ala)
c.-35T>C (n.-35T>C)
n.1007T>C
n.929T>C
n.838T>C
c.7346T>C (p.Val2449Ala)
c.3314T>C (p.Val1105Ala)
c.335T>C (p.Val112Ala)
c.434T>C (p.Val145Ala)
c.7334T>C (p.Val2445Ala)
c.103T>C (n.103T>C)
c.7331T>C (p.Val2444Ala)
c.7343T>C (p.Val2448Ala)
c.7322T>C (p.Val2441Ala)
c.6977T>C (p.Val2326Ala)
c.3323T>C (p.Val1108Ala)
c.7217T>C (p.Val2406Ala)
c.7208T>C (p.Val2403Ala)
c.7223T>C (p.Val2408Ala)
c.1520T>C (p.Val507Ala)
 gnomAD v4
Xg.31774156A>TCA412659129DMDc.2192T>A (p.Val731Glu)
c.-35T>A (n.-35T>A)
n.1007T>A
n.929T>A
n.838T>A
c.7346T>A (p.Val2449Glu)
c.3314T>A (p.Val1105Glu)
c.335T>A (p.Val112Glu)
c.434T>A (p.Val145Glu)
c.7334T>A (p.Val2445Glu)
c.103T>A (n.103T>A)
c.7331T>A (p.Val2444Glu)
c.7343T>A (p.Val2448Glu)
c.7322T>A (p.Val2441Glu)
c.6977T>A (p.Val2326Glu)
c.3323T>A (p.Val1108Glu)
c.7217T>A (p.Val2406Glu)
c.7208T>A (p.Val2403Glu)
c.7223T>A (p.Val2408Glu)
c.1520T>A (p.Val507Glu)
 dbSNP
Xg.31774157C>ACA412659130DMDc.2191G>T (p.Val731Leu)
c.-36G>T (n.-36G>T)
n.1006G>T
n.928G>T
n.837G>T
c.7345G>T (p.Val2449Leu)
c.3313G>T (p.Val1105Leu)
c.334G>T (p.Val112Leu)
c.433G>T (p.Val145Leu)
c.7333G>T (p.Val2445Leu)
c.102G>T (n.102G>T)
c.7330G>T (p.Val2444Leu)
c.7342G>T (p.Val2448Leu)
c.7321G>T (p.Val2441Leu)
c.6976G>T (p.Val2326Leu)
c.3322G>T (p.Val1108Leu)
c.7216G>T (p.Val2406Leu)
c.7207G>T (p.Val2403Leu)
c.7222G>T (p.Val2408Leu)
c.1519G>T (p.Val507Leu)
Xg.31774157C=CA2422548670DMDc.2191G= (p.Val731=)
c.-36G= (n.-36G=)
n.1006G=
n.928G=
n.837G=
c.7345G= (p.Val2449=)
c.3313G= (p.Val1105=)
c.334G= (p.Val112=)
c.433G= (p.Val145=)
c.7333G= (p.Val2445=)
c.102G= (n.102G=)
c.7330G= (p.Val2444=)
c.7342G= (p.Val2448=)
c.7321G= (p.Val2441=)
c.6976G= (p.Val2326=)
c.3322G= (p.Val1108=)
c.7216G= (p.Val2406=)
c.7207G= (p.Val2403=)
c.7222G= (p.Val2408=)
c.1519G= (p.Val507=)
Xg.31774157C>GCA328470495DMDc.2191G>C (p.Val731Leu)
c.-36G>C (n.-36G>C)
n.1006G>C
n.928G>C
n.837G>C
c.7345G>C (p.Val2449Leu)
c.3313G>C (p.Val1105Leu)
c.334G>C (p.Val112Leu)
c.433G>C (p.Val145Leu)
c.7333G>C (p.Val2445Leu)
c.102G>C (n.102G>C)
c.7330G>C (p.Val2444Leu)
c.7342G>C (p.Val2448Leu)
c.7321G>C (p.Val2441Leu)
c.6976G>C (p.Val2326Leu)
c.3322G>C (p.Val1108Leu)
c.7216G>C (p.Val2406Leu)
c.7207G>C (p.Val2403Leu)
c.7222G>C (p.Val2408Leu)
c.1519G>C (p.Val507Leu)
 dbSNP
Xg.31774157C>TCA412659131DMDc.2191G>A (p.Val731Met)
c.-36G>A (n.-36G>A)
n.1006G>A
n.928G>A
n.837G>A
c.7345G>A (p.Val2449Met)
c.3313G>A (p.Val1105Met)
c.334G>A (p.Val112Met)
c.433G>A (p.Val145Met)
c.7333G>A (p.Val2445Met)
c.102G>A (n.102G>A)
c.7330G>A (p.Val2444Met)
c.7342G>A (p.Val2448Met)
c.7321G>A (p.Val2441Met)
c.6976G>A (p.Val2326Met)
c.3322G>A (p.Val1108Met)
c.7216G>A (p.Val2406Met)
c.7207G>A (p.Val2403Met)
c.7222G>A (p.Val2408Met)
c.1519G>A (p.Val507Met)
 gnomAD v4
Xg.31774158A>CCA515859416DMDc.2190T>G (p.Pro730=)
c.-37T>G (n.-37T>G)
n.1005T>G
n.927T>G
n.836T>G
c.7344T>G (p.Pro2448=)
c.3312T>G (p.Pro1104=)
c.333T>G (p.Pro111=)
c.432T>G (p.Pro144=)
c.7332T>G (p.Pro2444=)
c.101T>G (n.101T>G)
c.7329T>G (p.Pro2443=)
c.7341T>G (p.Pro2447=)
c.7320T>G (p.Pro2440=)
c.6975T>G (p.Pro2325=)
c.3321T>G (p.Pro1107=)
c.7215T>G (p.Pro2405=)
c.7206T>G (p.Pro2402=)
c.7221T>G (p.Pro2407=)
c.1518T>G (p.Pro506=)
Xg.31774158A>GCA515859415DMDc.2190T>C (p.Pro730=)
c.-37T>C (n.-37T>C)
n.1005T>C
n.927T>C
n.836T>C
c.7344T>C (p.Pro2448=)
c.3312T>C (p.Pro1104=)
c.333T>C (p.Pro111=)
c.432T>C (p.Pro144=)
c.7332T>C (p.Pro2444=)
c.101T>C (n.101T>C)
c.7329T>C (p.Pro2443=)
c.7341T>C (p.Pro2447=)
c.7320T>C (p.Pro2440=)
c.6975T>C (p.Pro2325=)
c.3321T>C (p.Pro1107=)
c.7215T>C (p.Pro2405=)
c.7206T>C (p.Pro2402=)
c.7221T>C (p.Pro2407=)
c.1518T>C (p.Pro506=)
 ClinVar
Xg.31774158A>TCA515859414DMDc.2190T>A (p.Pro730=)
c.-37T>A (n.-37T>A)
n.1005T>A
n.927T>A
n.836T>A
c.7344T>A (p.Pro2448=)
c.3312T>A (p.Pro1104=)
c.333T>A (p.Pro111=)
c.432T>A (p.Pro144=)
c.7332T>A (p.Pro2444=)
c.101T>A (n.101T>A)
c.7329T>A (p.Pro2443=)
c.7341T>A (p.Pro2447=)
c.7320T>A (p.Pro2440=)
c.6975T>A (p.Pro2325=)
c.3321T>A (p.Pro1107=)
c.7215T>A (p.Pro2405=)
c.7206T>A (p.Pro2402=)
c.7221T>A (p.Pro2407=)
c.1518T>A (p.Pro506=)
Xg.31774159G>ACA412659132DMDc.2189C>T (p.Pro730Leu)
c.-38C>T (n.-38C>T)
n.1004C>T
n.926C>T
n.835C>T
c.7343C>T (p.Pro2448Leu)
c.3311C>T (p.Pro1104Leu)
c.332C>T (p.Pro111Leu)
c.431C>T (p.Pro144Leu)
c.7331C>T (p.Pro2444Leu)
c.100C>T (n.100C>T)
c.7328C>T (p.Pro2443Leu)
c.7340C>T (p.Pro2447Leu)
c.7319C>T (p.Pro2440Leu)
c.6974C>T (p.Pro2325Leu)
c.3320C>T (p.Pro1107Leu)
c.7214C>T (p.Pro2405Leu)
c.7205C>T (p.Pro2402Leu)
c.7220C>T (p.Pro2407Leu)
c.1517C>T (p.Pro506Leu)
Xg.31774159G>CCA412659133DMDc.2189C>G (p.Pro730Arg)
c.-38C>G (n.-38C>G)
n.1004C>G
n.926C>G
n.835C>G
c.7343C>G (p.Pro2448Arg)
c.3311C>G (p.Pro1104Arg)
c.332C>G (p.Pro111Arg)
c.431C>G (p.Pro144Arg)
c.7331C>G (p.Pro2444Arg)
c.100C>G (n.100C>G)
c.7328C>G (p.Pro2443Arg)
c.7340C>G (p.Pro2447Arg)
c.7319C>G (p.Pro2440Arg)
c.6974C>G (p.Pro2325Arg)
c.3320C>G (p.Pro1107Arg)
c.7214C>G (p.Pro2405Arg)
c.7205C>G (p.Pro2402Arg)
c.7220C>G (p.Pro2407Arg)
c.1517C>G (p.Pro506Arg)
Xg.31774159G>TCA412659134DMDc.2189C>A (p.Pro730His)
c.-38C>A (n.-38C>A)
n.1004C>A
n.926C>A
n.835C>A
c.7343C>A (p.Pro2448His)
c.3311C>A (p.Pro1104His)
c.332C>A (p.Pro111His)
c.431C>A (p.Pro144His)
c.7331C>A (p.Pro2444His)
c.100C>A (n.100C>A)
c.7328C>A (p.Pro2443His)
c.7340C>A (p.Pro2447His)
c.7319C>A (p.Pro2440His)
c.6974C>A (p.Pro2325His)
c.3320C>A (p.Pro1107His)
c.7214C>A (p.Pro2405His)
c.7205C>A (p.Pro2402His)
c.7220C>A (p.Pro2407His)
c.1517C>A (p.Pro506His)
Xg.31774160G>ACA412659135DMDc.2188C>T (p.Pro730Ser)
c.-39C>T (n.-39C>T)
n.1003C>T
n.925C>T
n.834C>T
c.7342C>T (p.Pro2448Ser)
c.3310C>T (p.Pro1104Ser)
c.331C>T (p.Pro111Ser)
c.430C>T (p.Pro144Ser)
c.7330C>T (p.Pro2444Ser)
c.99C>T (n.99C>T)
c.7327C>T (p.Pro2443Ser)
c.7339C>T (p.Pro2447Ser)
c.7318C>T (p.Pro2440Ser)
c.6973C>T (p.Pro2325Ser)
c.3319C>T (p.Pro1107Ser)
c.7213C>T (p.Pro2405Ser)
c.7204C>T (p.Pro2402Ser)
c.7219C>T (p.Pro2407Ser)
c.1516C>T (p.Pro506Ser)
Xg.31774160G>CCA412659137DMDc.2188C>G (p.Pro730Ala)
c.-39C>G (n.-39C>G)
n.1003C>G
n.925C>G
n.834C>G
c.7342C>G (p.Pro2448Ala)
c.3310C>G (p.Pro1104Ala)
c.331C>G (p.Pro111Ala)
c.430C>G (p.Pro144Ala)
c.7330C>G (p.Pro2444Ala)
c.99C>G (n.99C>G)
c.7327C>G (p.Pro2443Ala)
c.7339C>G (p.Pro2447Ala)
c.7318C>G (p.Pro2440Ala)
c.6973C>G (p.Pro2325Ala)
c.3319C>G (p.Pro1107Ala)
c.7213C>G (p.Pro2405Ala)
c.7204C>G (p.Pro2402Ala)
c.7219C>G (p.Pro2407Ala)
c.1516C>G (p.Pro506Ala)
Xg.31774160G>TCA412659136DMDc.2188C>A (p.Pro730Thr)
c.-39C>A (n.-39C>A)
n.1003C>A
n.925C>A
n.834C>A
c.7342C>A (p.Pro2448Thr)
c.3310C>A (p.Pro1104Thr)
c.331C>A (p.Pro111Thr)
c.430C>A (p.Pro144Thr)
c.7330C>A (p.Pro2444Thr)
c.99C>A (n.99C>A)
c.7327C>A (p.Pro2443Thr)
c.7339C>A (p.Pro2447Thr)
c.7318C>A (p.Pro2440Thr)
c.6973C>A (p.Pro2325Thr)
c.3319C>A (p.Pro1107Thr)
c.7213C>A (p.Pro2405Thr)
c.7204C>A (p.Pro2402Thr)
c.7219C>A (p.Pro2407Thr)
c.1516C>A (p.Pro506Thr)
Xg.31774161T>ACA412659138DMDc.2187A>T (p.Gln729His)
c.-40A>T (n.-40A>T)
n.1002A>T
n.924A>T
n.833A>T
c.7341A>T (p.Gln2447His)
c.3309A>T (p.Gln1103His)
c.330A>T (p.Gln110His)
c.429A>T (p.Gln143His)
c.7329A>T (p.Gln2443His)
c.98A>T (n.98A>T)
c.7326A>T (p.Gln2442His)
c.7338A>T (p.Gln2446His)
c.7317A>T (p.Gln2439His)
c.6972A>T (p.Gln2324His)
c.3318A>T (p.Gln1106His)
c.7212A>T (p.Gln2404His)
c.7203A>T (p.Gln2401His)
c.7218A>T (p.Gln2406His)
c.1515A>T (p.Gln505His)
Xg.31774161T>CCA10378285DMDc.2187A>G (p.Gln729=)
c.-40A>G (n.-40A>G)
n.1002A>G
n.924A>G
n.833A>G
c.7341A>G (p.Gln2447=)
c.3309A>G (p.Gln1103=)
c.330A>G (p.Gln110=)
c.429A>G (p.Gln143=)
c.7329A>G (p.Gln2443=)
c.98A>G (n.98A>G)
c.7326A>G (p.Gln2442=)
c.7338A>G (p.Gln2446=)
c.7317A>G (p.Gln2439=)
c.6972A>G (p.Gln2324=)
c.3318A>G (p.Gln1106=)
c.7212A>G (p.Gln2404=)
c.7203A>G (p.Gln2401=)
c.7218A>G (p.Gln2406=)
c.1515A>G (p.Gln505=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774161T>GCA412659139DMDc.2187A>C (p.Gln729His)
c.-40A>C (n.-40A>C)
n.1002A>C
n.924A>C
n.833A>C
c.7341A>C (p.Gln2447His)
c.3309A>C (p.Gln1103His)
c.330A>C (p.Gln110His)
c.429A>C (p.Gln143His)
c.7329A>C (p.Gln2443His)
c.98A>C (n.98A>C)
c.7326A>C (p.Gln2442His)
c.7338A>C (p.Gln2446His)
c.7317A>C (p.Gln2439His)
c.6972A>C (p.Gln2324His)
c.3318A>C (p.Gln1106His)
c.7212A>C (p.Gln2404His)
c.7203A>C (p.Gln2401His)
c.7218A>C (p.Gln2406His)
c.1515A>C (p.Gln505His)
Xg.31774161T=CA2422548671DMDc.2187A= (p.Gln729=)
c.-40A= (n.-40A=)
n.1002A=
n.924A=
n.833A=
c.7341A= (p.Gln2447=)
c.3309A= (p.Gln1103=)
c.330A= (p.Gln110=)
c.429A= (p.Gln143=)
c.7329A= (p.Gln2443=)
c.98A= (n.98A=)
c.7326A= (p.Gln2442=)
c.7338A= (p.Gln2446=)
c.7317A= (p.Gln2439=)
c.6972A= (p.Gln2324=)
c.3318A= (p.Gln1106=)
c.7212A= (p.Gln2404=)
c.7203A= (p.Gln2401=)
c.7218A= (p.Gln2406=)
c.1515A= (p.Gln505=)
Xg.31774162delCA2695232466DMDc.2187del (p.Gln729HisfsTer13)
c.-40del (n.-40del)
n.1002del
n.924del
n.833del
c.7341del (p.Gln2447HisfsTer13)
c.3309del (p.Gln1103HisfsTer13)
c.330del (p.Gln110HisfsTer13)
c.429del (p.Gln143HisfsTer13)
c.7329del (p.Gln2443HisfsTer13)
c.98del (n.98del)
c.7326del (p.Gln2442HisfsTer13)
c.7338del (p.Gln2446HisfsTer13)
c.7317del (p.Gln2439HisfsTer13)
c.6972del (p.Gln2324HisfsTer13)
c.3318del (p.Gln1106HisfsTer13)
c.7212del (p.Gln2404HisfsTer13)
c.7203del (p.Gln2401HisfsTer13)
c.7218del (p.Gln2406HisfsTer13)
c.1515del (p.Gln505HisfsTer13)
Xg.31774162T>ACA412659140DMDc.2186A>T (p.Gln729Leu)
c.-41A>T (n.-41A>T)
n.1001A>T
n.923A>T
n.832A>T
c.7340A>T (p.Gln2447Leu)
c.3308A>T (p.Gln1103Leu)
c.329A>T (p.Gln110Leu)
c.428A>T (p.Gln143Leu)
c.7328A>T (p.Gln2443Leu)
c.97A>T (n.97A>T)
c.7325A>T (p.Gln2442Leu)
c.7337A>T (p.Gln2446Leu)
c.7316A>T (p.Gln2439Leu)
c.6971A>T (p.Gln2324Leu)
c.3317A>T (p.Gln1106Leu)
c.7211A>T (p.Gln2404Leu)
c.7202A>T (p.Gln2401Leu)
c.7217A>T (p.Gln2406Leu)
c.1514A>T (p.Gln505Leu)
Xg.31774162T>CCA412659141DMDc.2186A>G (p.Gln729Arg)
c.-41A>G (n.-41A>G)
n.1001A>G
n.923A>G
n.832A>G
c.7340A>G (p.Gln2447Arg)
c.3308A>G (p.Gln1103Arg)
c.329A>G (p.Gln110Arg)
c.428A>G (p.Gln143Arg)
c.7328A>G (p.Gln2443Arg)
c.97A>G (n.97A>G)
c.7325A>G (p.Gln2442Arg)
c.7337A>G (p.Gln2446Arg)
c.7316A>G (p.Gln2439Arg)
c.6971A>G (p.Gln2324Arg)
c.3317A>G (p.Gln1106Arg)
c.7211A>G (p.Gln2404Arg)
c.7202A>G (p.Gln2401Arg)
c.7217A>G (p.Gln2406Arg)
c.1514A>G (p.Gln505Arg)
Xg.31774162T>GCA412659142DMDc.2186A>C (p.Gln729Pro)
c.-41A>C (n.-41A>C)
n.1001A>C
n.923A>C
n.832A>C
c.7340A>C (p.Gln2447Pro)
c.3308A>C (p.Gln1103Pro)
c.329A>C (p.Gln110Pro)
c.428A>C (p.Gln143Pro)
c.7328A>C (p.Gln2443Pro)
c.97A>C (n.97A>C)
c.7325A>C (p.Gln2442Pro)
c.7337A>C (p.Gln2446Pro)
c.7316A>C (p.Gln2439Pro)
c.6971A>C (p.Gln2324Pro)
c.3317A>C (p.Gln1106Pro)
c.7211A>C (p.Gln2404Pro)
c.7202A>C (p.Gln2401Pro)
c.7217A>C (p.Gln2406Pro)
c.1514A>C (p.Gln505Pro)
Xg.31774163G>ACA412659143DMDc.2185C>T (p.Gln729Ter)
c.-42C>T (n.-42C>T)
n.1000C>T
n.922C>T
n.831C>T
c.7339C>T (p.Gln2447Ter)
c.3307C>T (p.Gln1103Ter)
c.328C>T (p.Gln110Ter)
c.427C>T (p.Gln143Ter)
c.7327C>T (p.Gln2443Ter)
c.96C>T (n.96C>T)
c.7324C>T (p.Gln2442Ter)
c.7336C>T (p.Gln2446Ter)
c.7315C>T (p.Gln2439Ter)
c.6970C>T (p.Gln2324Ter)
c.3316C>T (p.Gln1106Ter)
c.7210C>T (p.Gln2404Ter)
c.7201C>T (p.Gln2401Ter)
c.7216C>T (p.Gln2406Ter)
c.1513C>T (p.Gln505Ter)
 dbSNP
Xg.31774163G>CCA412659144DMDc.2185C>G (p.Gln729Glu)
c.-42C>G (n.-42C>G)
n.1000C>G
n.922C>G
n.831C>G
c.7339C>G (p.Gln2447Glu)
c.3307C>G (p.Gln1103Glu)
c.328C>G (p.Gln110Glu)
c.427C>G (p.Gln143Glu)
c.7327C>G (p.Gln2443Glu)
c.96C>G (n.96C>G)
c.7324C>G (p.Gln2442Glu)
c.7336C>G (p.Gln2446Glu)
c.7315C>G (p.Gln2439Glu)
c.6970C>G (p.Gln2324Glu)
c.3316C>G (p.Gln1106Glu)
c.7210C>G (p.Gln2404Glu)
c.7201C>G (p.Gln2401Glu)
c.7216C>G (p.Gln2406Glu)
c.1513C>G (p.Gln505Glu)
Xg.31774163G>TCA412659145DMDc.2185C>A (p.Gln729Lys)
c.-42C>A (n.-42C>A)
n.1000C>A
n.922C>A
n.831C>A
c.7339C>A (p.Gln2447Lys)
c.3307C>A (p.Gln1103Lys)
c.328C>A (p.Gln110Lys)
c.427C>A (p.Gln143Lys)
c.7327C>A (p.Gln2443Lys)
c.96C>A (n.96C>A)
c.7324C>A (p.Gln2442Lys)
c.7336C>A (p.Gln2446Lys)
c.7315C>A (p.Gln2439Lys)
c.6970C>A (p.Gln2324Lys)
c.3316C>A (p.Gln1106Lys)
c.7210C>A (p.Gln2404Lys)
c.7201C>A (p.Gln2401Lys)
c.7216C>A (p.Gln2406Lys)
c.1513C>A (p.Gln505Lys)
 gnomAD v4
Xg.31774164T>ACA515859417DMDc.2184A>T (p.Thr728=)
c.-43A>T (n.-43A>T)
n.999A>T
n.921A>T
n.830A>T
c.7338A>T (p.Thr2446=)
c.3306A>T (p.Thr1102=)
c.327A>T (p.Thr109=)
c.426A>T (p.Thr142=)
c.7326A>T (p.Thr2442=)
c.95A>T (n.95A>T)
c.7323A>T (p.Thr2441=)
c.7335A>T (p.Thr2445=)
c.7314A>T (p.Thr2438=)
c.6969A>T (p.Thr2323=)
c.3315A>T (p.Thr1105=)
c.7209A>T (p.Thr2403=)
c.7200A>T (p.Thr2400=)
c.7215A>T (p.Thr2405=)
c.1512A>T (p.Thr504=)
Xg.31774164T>CCA10378286DMDc.2184A>G (p.Thr728=)
c.-43A>G (n.-43A>G)
n.999A>G
n.921A>G
n.830A>G
c.7338A>G (p.Thr2446=)
c.3306A>G (p.Thr1102=)
c.327A>G (p.Thr109=)
c.426A>G (p.Thr142=)
c.7326A>G (p.Thr2442=)
c.95A>G (n.95A>G)
c.7323A>G (p.Thr2441=)
c.7335A>G (p.Thr2445=)
c.7314A>G (p.Thr2438=)
c.6969A>G (p.Thr2323=)
c.3315A>G (p.Thr1105=)
c.7209A>G (p.Thr2403=)
c.7200A>G (p.Thr2400=)
c.7215A>G (p.Thr2405=)
c.1512A>G (p.Thr504=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774164T>GCA515859418DMDc.2184A>C (p.Thr728=)
c.-43A>C (n.-43A>C)
n.999A>C
n.921A>C
n.830A>C
c.7338A>C (p.Thr2446=)
c.3306A>C (p.Thr1102=)
c.327A>C (p.Thr109=)
c.426A>C (p.Thr142=)
c.7326A>C (p.Thr2442=)
c.95A>C (n.95A>C)
c.7323A>C (p.Thr2441=)
c.7335A>C (p.Thr2445=)
c.7314A>C (p.Thr2438=)
c.6969A>C (p.Thr2323=)
c.3315A>C (p.Thr1105=)
c.7209A>C (p.Thr2403=)
c.7200A>C (p.Thr2400=)
c.7215A>C (p.Thr2405=)
c.1512A>C (p.Thr504=)
Xg.31774164T=CA2422548672DMDc.2184A= (p.Thr728=)
c.-43A= (n.-43A=)
n.999A=
n.921A=
n.830A=
c.7338A= (p.Thr2446=)
c.3306A= (p.Thr1102=)
c.327A= (p.Thr109=)
c.426A= (p.Thr142=)
c.7326A= (p.Thr2442=)
c.95A= (n.95A=)
c.7323A= (p.Thr2441=)
c.7335A= (p.Thr2445=)
c.7314A= (p.Thr2438=)
c.6969A= (p.Thr2323=)
c.3315A= (p.Thr1105=)
c.7209A= (p.Thr2403=)
c.7200A= (p.Thr2400=)
c.7215A= (p.Thr2405=)
c.1512A= (p.Thr504=)
Xg.31774165G>ACA412659147DMDc.2183C>T (p.Thr728Ile)
c.-44C>T (n.-44C>T)
n.998C>T
n.920C>T
n.829C>T
c.7337C>T (p.Thr2446Ile)
c.3305C>T (p.Thr1102Ile)
c.326C>T (p.Thr109Ile)
c.425C>T (p.Thr142Ile)
c.7325C>T (p.Thr2442Ile)
c.94C>T (n.94C>T)
c.7322C>T (p.Thr2441Ile)
c.7334C>T (p.Thr2445Ile)
c.7313C>T (p.Thr2438Ile)
c.6968C>T (p.Thr2323Ile)
c.3314C>T (p.Thr1105Ile)
c.7208C>T (p.Thr2403Ile)
c.7199C>T (p.Thr2400Ile)
c.7214C>T (p.Thr2405Ile)
c.1511C>T (p.Thr504Ile)
Xg.31774165G>CCA412659148DMDc.2183C>G (p.Thr728Arg)
c.-44C>G (n.-44C>G)
n.998C>G
n.920C>G
n.829C>G
c.7337C>G (p.Thr2446Arg)
c.3305C>G (p.Thr1102Arg)
c.326C>G (p.Thr109Arg)
c.425C>G (p.Thr142Arg)
c.7325C>G (p.Thr2442Arg)
c.94C>G (n.94C>G)
c.7322C>G (p.Thr2441Arg)
c.7334C>G (p.Thr2445Arg)
c.7313C>G (p.Thr2438Arg)
c.6968C>G (p.Thr2323Arg)
c.3314C>G (p.Thr1105Arg)
c.7208C>G (p.Thr2403Arg)
c.7199C>G (p.Thr2400Arg)
c.7214C>G (p.Thr2405Arg)
c.1511C>G (p.Thr504Arg)
Xg.31774165G>TCA412659146DMDc.2183C>A (p.Thr728Lys)
c.-44C>A (n.-44C>A)
n.998C>A
n.920C>A
n.829C>A
c.7337C>A (p.Thr2446Lys)
c.3305C>A (p.Thr1102Lys)
c.326C>A (p.Thr109Lys)
c.425C>A (p.Thr142Lys)
c.7325C>A (p.Thr2442Lys)
c.94C>A (n.94C>A)
c.7322C>A (p.Thr2441Lys)
c.7334C>A (p.Thr2445Lys)
c.7313C>A (p.Thr2438Lys)
c.6968C>A (p.Thr2323Lys)
c.3314C>A (p.Thr1105Lys)
c.7208C>A (p.Thr2403Lys)
c.7199C>A (p.Thr2400Lys)
c.7214C>A (p.Thr2405Lys)
c.1511C>A (p.Thr504Lys)
 gnomAD v4
Xg.31774166T>ACA412659149DMDc.2182A>T (p.Thr728Ser)
c.-45A>T (n.-45A>T)
n.997A>T
n.919A>T
n.828A>T
c.7336A>T (p.Thr2446Ser)
c.3304A>T (p.Thr1102Ser)
c.325A>T (p.Thr109Ser)
c.424A>T (p.Thr142Ser)
c.7324A>T (p.Thr2442Ser)
c.93A>T (p.Ter31Cys)
c.7321A>T (p.Thr2441Ser)
c.7333A>T (p.Thr2445Ser)
c.7312A>T (p.Thr2438Ser)
c.6967A>T (p.Thr2323Ser)
c.3313A>T (p.Thr1105Ser)
c.7207A>T (p.Thr2403Ser)
c.7198A>T (p.Thr2400Ser)
c.7213A>T (p.Thr2405Ser)
c.1510A>T (p.Thr504Ser)
Xg.31774166T>CCA412659150DMDc.2182A>G (p.Thr728Ala)
c.-45A>G (n.-45A>G)
n.997A>G
n.919A>G
n.828A>G
c.7336A>G (p.Thr2446Ala)
c.3304A>G (p.Thr1102Ala)
c.325A>G (p.Thr109Ala)
c.424A>G (p.Thr142Ala)
c.7324A>G (p.Thr2442Ala)
c.93A>G (p.Ter31Trp)
c.7321A>G (p.Thr2441Ala)
c.7333A>G (p.Thr2445Ala)
c.7312A>G (p.Thr2438Ala)
c.6967A>G (p.Thr2323Ala)
c.3313A>G (p.Thr1105Ala)
c.7207A>G (p.Thr2403Ala)
c.7198A>G (p.Thr2400Ala)
c.7213A>G (p.Thr2405Ala)
c.1510A>G (p.Thr504Ala)
 gnomAD v4
Xg.31774166T>GCA412659151DMDc.2182A>C (p.Thr728Pro)
c.-45A>C (n.-45A>C)
n.997A>C
n.919A>C
n.828A>C
c.7336A>C (p.Thr2446Pro)
c.3304A>C (p.Thr1102Pro)
c.325A>C (p.Thr109Pro)
c.424A>C (p.Thr142Pro)
c.7324A>C (p.Thr2442Pro)
c.93A>C (p.Ter31Cys)
c.7321A>C (p.Thr2441Pro)
c.7333A>C (p.Thr2445Pro)
c.7312A>C (p.Thr2438Pro)
c.6967A>C (p.Thr2323Pro)
c.3313A>C (p.Thr1105Pro)
c.7207A>C (p.Thr2403Pro)
c.7198A>C (p.Thr2400Pro)
c.7213A>C (p.Thr2405Pro)
c.1510A>C (p.Thr504Pro)
Xg.31774167C>ACA515859419DMDc.2181G>T (p.Val727=)
c.-46G>T (n.-46G>T)
n.996G>T
n.918G>T
n.827G>T
c.7335G>T (p.Val2445=)
c.3303G>T (p.Val1101=)
c.324G>T (p.Val108=)
c.423G>T (p.Val141=)
c.7323G>T (p.Val2441=)
c.92G>T (p.Ter31Leu)
c.7320G>T (p.Val2440=)
c.7332G>T (p.Val2444=)
c.7311G>T (p.Val2437=)
c.6966G>T (p.Val2322=)
c.3312G>T (p.Val1104=)
c.7206G>T (p.Val2402=)
c.7197G>T (p.Val2399=)
c.7212G>T (p.Val2404=)
c.1509G>T (p.Val503=)
Xg.31774167C=CA2422548673DMDc.2181G= (p.Val727=)
c.-46G= (n.-46G=)
n.996G=
n.918G=
n.827G=
c.7335G= (p.Val2445=)
c.3303G= (p.Val1101=)
c.324G= (p.Val108=)
c.423G= (p.Val141=)
c.7323G= (p.Val2441=)
c.92G= (p.Ter31=)
c.7320G= (p.Val2440=)
c.7332G= (p.Val2444=)
c.7311G= (p.Val2437=)
c.6966G= (p.Val2322=)
c.3312G= (p.Val1104=)
c.7206G= (p.Val2402=)
c.7197G= (p.Val2399=)
c.7212G= (p.Val2404=)
c.1509G= (p.Val503=)
Xg.31774167C>GCA515859420DMDc.2181G>C (p.Val727=)
c.-46G>C (n.-46G>C)
n.996G>C
n.918G>C
n.827G>C
c.7335G>C (p.Val2445=)
c.3303G>C (p.Val1101=)
c.324G>C (p.Val108=)
c.423G>C (p.Val141=)
c.7323G>C (p.Val2441=)
c.92G>C (p.Ter31Ser)
c.7320G>C (p.Val2440=)
c.7332G>C (p.Val2444=)
c.7311G>C (p.Val2437=)
c.6966G>C (p.Val2322=)
c.3312G>C (p.Val1104=)
c.7206G>C (p.Val2402=)
c.7197G>C (p.Val2399=)
c.7212G>C (p.Val2404=)
c.1509G>C (p.Val503=)
Xg.31774167C>TCA515859421DMDc.2181G>A (p.Val727=)
c.-46G>A (n.-46G>A)
n.996G>A
n.918G>A
n.827G>A
c.7335G>A (p.Val2445=)
c.3303G>A (p.Val1101=)
c.324G>A (p.Val108=)
c.423G>A (p.Val141=)
c.7323G>A (p.Val2441=)
c.92G>A (p.Ter31=)
c.7320G>A (p.Val2440=)
c.7332G>A (p.Val2444=)
c.7311G>A (p.Val2437=)
c.6966G>A (p.Val2322=)
c.3312G>A (p.Val1104=)
c.7206G>A (p.Val2402=)
c.7197G>A (p.Val2399=)
c.7212G>A (p.Val2404=)
c.1509G>A (p.Val503=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774168_31774169delCA2579579131DMDc.2180_2181del (p.Val727AspfsTer7)
c.-47_-46del (n.-47_-46del)
n.995_996del
n.917_918del
n.826_827del
c.7334_7335del (p.Val2445AspfsTer7)
c.3302_3303del (p.Val1101AspfsTer7)
c.323_324del (p.Val108AspfsTer7)
c.422_423del (p.Val141AspfsTer7)
c.7322_7323del (p.Val2441AspfsTer7)
c.91_92del (p.Ter31ThrextTer?)
c.7319_7320del (p.Val2440AspfsTer7)
c.7331_7332del (p.Val2444AspfsTer7)
c.7310_7311del (p.Val2437AspfsTer7)
c.6965_6966del (p.Val2322AspfsTer7)
c.3311_3312del (p.Val1104AspfsTer7)
c.7205_7206del (p.Val2402AspfsTer7)
c.7196_7197del (p.Val2399AspfsTer7)
c.7211_7212del (p.Val2404AspfsTer7)
c.1508_1509del (p.Val503AspfsTer7)
Xg.31774168delCA2580100613DMDc.2180del (p.Val727GlyfsTer15)
c.-47del (n.-47del)
n.995del
n.917del
n.826del
c.7334del (p.Val2445GlyfsTer15)
c.3302del (p.Val1101GlyfsTer15)
c.323del (p.Val108GlyfsTer15)
c.422del (p.Val141GlyfsTer15)
c.7322del (p.Val2441GlyfsTer15)
c.91del (p.Ter31AspextTer7)
c.7319del (p.Val2440GlyfsTer15)
c.7331del (p.Val2444GlyfsTer15)
c.7310del (p.Val2437GlyfsTer15)
c.6965del (p.Val2322GlyfsTer15)
c.3311del (p.Val1104GlyfsTer15)
c.7205del (p.Val2402GlyfsTer15)
c.7196del (p.Val2399GlyfsTer15)
c.7211del (p.Val2404GlyfsTer15)
c.1508del (p.Val503GlyfsTer15)
 ClinVar
Xg.31774168A>CCA412659152DMDc.2180T>G (p.Val727Gly)
c.-47T>G (n.-47T>G)
n.995T>G
n.917T>G
n.826T>G
c.7334T>G (p.Val2445Gly)
c.3302T>G (p.Val1101Gly)
c.323T>G (p.Val108Gly)
c.422T>G (p.Val141Gly)
c.7322T>G (p.Val2441Gly)
c.91T>G (p.Ter31Gly)
c.7319T>G (p.Val2440Gly)
c.7331T>G (p.Val2444Gly)
c.7310T>G (p.Val2437Gly)
c.6965T>G (p.Val2322Gly)
c.3311T>G (p.Val1104Gly)
c.7205T>G (p.Val2402Gly)
c.7196T>G (p.Val2399Gly)
c.7211T>G (p.Val2404Gly)
c.1508T>G (p.Val503Gly)
Xg.31774168A>GCA412659153DMDc.2180T>C (p.Val727Ala)
c.-47T>C (n.-47T>C)
n.995T>C
n.917T>C
n.826T>C
c.7334T>C (p.Val2445Ala)
c.3302T>C (p.Val1101Ala)
c.323T>C (p.Val108Ala)
c.422T>C (p.Val141Ala)
c.7322T>C (p.Val2441Ala)
c.91T>C (p.Ter31Arg)
c.7319T>C (p.Val2440Ala)
c.7331T>C (p.Val2444Ala)
c.7310T>C (p.Val2437Ala)
c.6965T>C (p.Val2322Ala)
c.3311T>C (p.Val1104Ala)
c.7205T>C (p.Val2402Ala)
c.7196T>C (p.Val2399Ala)
c.7211T>C (p.Val2404Ala)
c.1508T>C (p.Val503Ala)
Xg.31774168A>TCA412659154DMDc.2180T>A (p.Val727Glu)
c.-47T>A (n.-47T>A)
n.995T>A
n.917T>A
n.826T>A
c.7334T>A (p.Val2445Glu)
c.3302T>A (p.Val1101Glu)
c.323T>A (p.Val108Glu)
c.422T>A (p.Val141Glu)
c.7322T>A (p.Val2441Glu)
c.91T>A (p.Ter31Arg)
c.7319T>A (p.Val2440Glu)
c.7331T>A (p.Val2444Glu)
c.7310T>A (p.Val2437Glu)
c.6965T>A (p.Val2322Glu)
c.3311T>A (p.Val1104Glu)
c.7205T>A (p.Val2402Glu)
c.7196T>A (p.Val2399Glu)
c.7211T>A (p.Val2404Glu)
c.1508T>A (p.Val503Glu)
Xg.31774169C>ACA412659157DMDc.2179G>T (p.Val727Leu)
c.-48G>T (n.-48G>T)
n.994G>T
n.916G>T
n.825G>T
c.7333G>T (p.Val2445Leu)
c.3301G>T (p.Val1101Leu)
c.322G>T (p.Val108Leu)
c.421G>T (p.Val141Leu)
c.7321G>T (p.Val2441Leu)
c.90G>T (p.Trp30Cys)
c.7318G>T (p.Val2440Leu)
c.7330G>T (p.Val2444Leu)
c.7309G>T (p.Val2437Leu)
c.6964G>T (p.Val2322Leu)
c.3310G>T (p.Val1104Leu)
c.7204G>T (p.Val2402Leu)
c.7195G>T (p.Val2399Leu)
c.7210G>T (p.Val2404Leu)
c.1507G>T (p.Val503Leu)
Xg.31774169C>GCA412659155DMDc.2179G>C (p.Val727Leu)
c.-48G>C (n.-48G>C)
n.994G>C
n.916G>C
n.825G>C
c.7333G>C (p.Val2445Leu)
c.3301G>C (p.Val1101Leu)
c.322G>C (p.Val108Leu)
c.421G>C (p.Val141Leu)
c.7321G>C (p.Val2441Leu)
c.90G>C (p.Trp30Cys)
c.7318G>C (p.Val2440Leu)
c.7330G>C (p.Val2444Leu)
c.7309G>C (p.Val2437Leu)
c.6964G>C (p.Val2322Leu)
c.3310G>C (p.Val1104Leu)
c.7204G>C (p.Val2402Leu)
c.7195G>C (p.Val2399Leu)
c.7210G>C (p.Val2404Leu)
c.1507G>C (p.Val503Leu)
 ClinVar
Xg.31774169C>TCA412659156DMDc.2179G>A (p.Val727Met)
c.-48G>A (n.-48G>A)
n.994G>A
n.916G>A
n.825G>A
c.7333G>A (p.Val2445Met)
c.3301G>A (p.Val1101Met)
c.322G>A (p.Val108Met)
c.421G>A (p.Val141Met)
c.7321G>A (p.Val2441Met)
c.90G>A (p.Trp30Ter)
c.7318G>A (p.Val2440Met)
c.7330G>A (p.Val2444Met)
c.7309G>A (p.Val2437Met)
c.6964G>A (p.Val2322Met)
c.3310G>A (p.Val1104Met)
c.7204G>A (p.Val2402Met)
c.7195G>A (p.Val2399Met)
c.7210G>A (p.Val2404Met)
c.1507G>A (p.Val503Met)
Xg.31774170C>ACA515859422DMDc.2178G>T (p.Leu726=)
c.-49G>T (n.-49G>T)
n.993G>T
n.915G>T
n.824G>T
c.7332G>T (p.Leu2444=)
c.3300G>T (p.Leu1100=)
c.321G>T (p.Leu107=)
c.420G>T (p.Leu140=)
c.7320G>T (p.Leu2440=)
c.89G>T (p.Trp30Leu)
c.7317G>T (p.Leu2439=)
c.7329G>T (p.Leu2443=)
c.7308G>T (p.Leu2436=)
c.6963G>T (p.Leu2321=)
c.3309G>T (p.Leu1103=)
c.7203G>T (p.Leu2401=)
c.7194G>T (p.Leu2398=)
c.7209G>T (p.Leu2403=)
c.1506G>T (p.Leu502=)
Xg.31774170C=CA2422548674DMDc.2178G= (p.Leu726=)
c.-49G= (n.-49G=)
n.993G=
n.915G=
n.824G=
c.7332G= (p.Leu2444=)
c.3300G= (p.Leu1100=)
c.321G= (p.Leu107=)
c.420G= (p.Leu140=)
c.7320G= (p.Leu2440=)
c.89G= (p.Trp30=)
c.7317G= (p.Leu2439=)
c.7329G= (p.Leu2443=)
c.7308G= (p.Leu2436=)
c.6963G= (p.Leu2321=)
c.3309G= (p.Leu1103=)
c.7203G= (p.Leu2401=)
c.7194G= (p.Leu2398=)
c.7209G= (p.Leu2403=)
c.1506G= (p.Leu502=)
Xg.31774170C>GCA515859423DMDc.2178G>C (p.Leu726=)
c.-49G>C (n.-49G>C)
n.993G>C
n.915G>C
n.824G>C
c.7332G>C (p.Leu2444=)
c.3300G>C (p.Leu1100=)
c.321G>C (p.Leu107=)
c.420G>C (p.Leu140=)
c.7320G>C (p.Leu2440=)
c.89G>C (p.Trp30Ser)
c.7317G>C (p.Leu2439=)
c.7329G>C (p.Leu2443=)
c.7308G>C (p.Leu2436=)
c.6963G>C (p.Leu2321=)
c.3309G>C (p.Leu1103=)
c.7203G>C (p.Leu2401=)
c.7194G>C (p.Leu2398=)
c.7209G>C (p.Leu2403=)
c.1506G>C (p.Leu502=)
 ClinVar
Xg.31774170C>TCA515859424DMDc.2178G>A (p.Leu726=)
c.-49G>A (n.-49G>A)
n.993G>A
n.915G>A
n.824G>A
c.7332G>A (p.Leu2444=)
c.3300G>A (p.Leu1100=)
c.321G>A (p.Leu107=)
c.420G>A (p.Leu140=)
c.7320G>A (p.Leu2440=)
c.89G>A (p.Trp30Ter)
c.7317G>A (p.Leu2439=)
c.7329G>A (p.Leu2443=)
c.7308G>A (p.Leu2436=)
c.6963G>A (p.Leu2321=)
c.3309G>A (p.Leu1103=)
c.7203G>A (p.Leu2401=)
c.7194G>A (p.Leu2398=)
c.7209G>A (p.Leu2403=)
c.1506G>A (p.Leu502=)
 dbSNP gnomAD v2 gnomAD v4
Xg.31774171A>CCA412659158DMDc.2177T>G (p.Leu726Arg)
c.-50T>G (n.-50T>G)
n.992T>G
n.914T>G
n.823T>G
c.7331T>G (p.Leu2444Arg)
c.3299T>G (p.Leu1100Arg)
c.320T>G (p.Leu107Arg)
c.419T>G (p.Leu140Arg)
c.7319T>G (p.Leu2440Arg)
c.88T>G (p.Trp30Gly)
c.7316T>G (p.Leu2439Arg)
c.7328T>G (p.Leu2443Arg)
c.7307T>G (p.Leu2436Arg)
c.6962T>G (p.Leu2321Arg)
c.3308T>G (p.Leu1103Arg)
c.7202T>G (p.Leu2401Arg)
c.7193T>G (p.Leu2398Arg)
c.7208T>G (p.Leu2403Arg)
c.1505T>G (p.Leu502Arg)
Xg.31774171A>GCA412659159DMDc.2177T>C (p.Leu726Pro)
c.-50T>C (n.-50T>C)
n.992T>C
n.914T>C
n.823T>C
c.7331T>C (p.Leu2444Pro)
c.3299T>C (p.Leu1100Pro)
c.320T>C (p.Leu107Pro)
c.419T>C (p.Leu140Pro)
c.7319T>C (p.Leu2440Pro)
c.88T>C (p.Trp30Arg)
c.7316T>C (p.Leu2439Pro)
c.7328T>C (p.Leu2443Pro)
c.7307T>C (p.Leu2436Pro)
c.6962T>C (p.Leu2321Pro)
c.3308T>C (p.Leu1103Pro)
c.7202T>C (p.Leu2401Pro)
c.7193T>C (p.Leu2398Pro)
c.7208T>C (p.Leu2403Pro)
c.1505T>C (p.Leu502Pro)
Xg.31774171A>TCA412659160DMDc.2177T>A (p.Leu726Gln)
c.-50T>A (n.-50T>A)
n.992T>A
n.914T>A
n.823T>A
c.7331T>A (p.Leu2444Gln)
c.3299T>A (p.Leu1100Gln)
c.320T>A (p.Leu107Gln)
c.419T>A (p.Leu140Gln)
c.7319T>A (p.Leu2440Gln)
c.88T>A (p.Trp30Arg)
c.7316T>A (p.Leu2439Gln)
c.7328T>A (p.Leu2443Gln)
c.7307T>A (p.Leu2436Gln)
c.6962T>A (p.Leu2321Gln)
c.3308T>A (p.Leu1103Gln)
c.7202T>A (p.Leu2401Gln)
c.7193T>A (p.Leu2398Gln)
c.7208T>A (p.Leu2403Gln)
c.1505T>A (p.Leu502Gln)
Xg.31774172G>ACA515859425DMDc.2176C>T (p.Leu726=)
c.-51C>T (n.-51C>T)
n.991C>T
n.913C>T
n.822C>T
c.7330C>T (p.Leu2444=)
c.3298C>T (p.Leu1100=)
c.319C>T (p.Leu107=)
c.418C>T (p.Leu140=)
c.7318C>T (p.Leu2440=)
c.87C>T (p.Leu29=)
c.7315C>T (p.Leu2439=)
c.7327C>T (p.Leu2443=)
c.7306C>T (p.Leu2436=)
c.6961C>T (p.Leu2321=)
c.3307C>T (p.Leu1103=)
c.7201C>T (p.Leu2401=)
c.7192C>T (p.Leu2398=)
c.7207C>T (p.Leu2403=)
c.1504C>T (p.Leu502=)
Xg.31774172G>CCA412659161DMDc.2176C>G (p.Leu726Val)
c.-51C>G (n.-51C>G)
n.991C>G
n.913C>G
n.822C>G
c.7330C>G (p.Leu2444Val)
c.3298C>G (p.Leu1100Val)
c.319C>G (p.Leu107Val)
c.418C>G (p.Leu140Val)
c.7318C>G (p.Leu2440Val)
c.87C>G (p.Leu29=)
c.7315C>G (p.Leu2439Val)
c.7327C>G (p.Leu2443Val)
c.7306C>G (p.Leu2436Val)
c.6961C>G (p.Leu2321Val)
c.3307C>G (p.Leu1103Val)
c.7201C>G (p.Leu2401Val)
c.7192C>G (p.Leu2398Val)
c.7207C>G (p.Leu2403Val)
c.1504C>G (p.Leu502Val)
Xg.31774172G>TCA412659162DMDc.2176C>A (p.Leu726Met)
c.-51C>A (n.-51C>A)
n.991C>A
n.913C>A
n.822C>A
c.7330C>A (p.Leu2444Met)
c.3298C>A (p.Leu1100Met)
c.319C>A (p.Leu107Met)
c.418C>A (p.Leu140Met)
c.7318C>A (p.Leu2440Met)
c.87C>A (p.Leu29=)
c.7315C>A (p.Leu2439Met)
c.7327C>A (p.Leu2443Met)
c.7306C>A (p.Leu2436Met)
c.6961C>A (p.Leu2321Met)
c.3307C>A (p.Leu1103Met)
c.7201C>A (p.Leu2401Met)
c.7192C>A (p.Leu2398Met)
c.7207C>A (p.Leu2403Met)
c.1504C>A (p.Leu502Met)
Xg.31774172_31774173insTCA2695232467DMDc.2175_2176insA (p.Leu726ThrfsTer9)
c.-52_-51insA (n.-52_-51insA)
n.990_991insA
n.912_913insA
n.821_822insA
c.7329_7330insA (p.Leu2444ThrfsTer9)
c.3297_3298insA (p.Leu1100ThrfsTer9)
c.318_319insA (p.Leu107ThrfsTer9)
c.417_418insA (p.Leu140ThrfsTer9)
c.7317_7318insA (p.Leu2440ThrfsTer9)
c.86_87insA (p.Trp30LeufsTer?)
c.7314_7315insA (p.Leu2439ThrfsTer9)
c.7326_7327insA (p.Leu2443ThrfsTer9)
c.7305_7306insA (p.Leu2436ThrfsTer9)
c.6960_6961insA (p.Leu2321ThrfsTer9)
c.3306_3307insA (p.Leu1103ThrfsTer9)
c.7200_7201insA (p.Leu2401ThrfsTer9)
c.7191_7192insA (p.Leu2398ThrfsTer9)
c.7206_7207insA (p.Leu2403ThrfsTer9)
c.1503_1504insA (p.Leu502ThrfsTer9)
Xg.31774173A>CCA515859426DMDc.2175T>G (p.Thr725=)
c.-52T>G (n.-52T>G)
n.990T>G
n.912T>G
n.821T>G
c.7329T>G (p.Thr2443=)
c.3297T>G (p.Thr1099=)
c.318T>G (p.Thr106=)
c.417T>G (p.Thr139=)
c.7317T>G (p.Thr2439=)
c.86T>G (p.Leu29Arg)
c.7314T>G (p.Thr2438=)
c.7326T>G (p.Thr2442=)
c.7305T>G (p.Thr2435=)
c.6960T>G (p.Thr2320=)
c.3306T>G (p.Thr1102=)
c.7200T>G (p.Thr2400=)
c.7191T>G (p.Thr2397=)
c.7206T>G (p.Thr2402=)
c.1503T>G (p.Thr501=)
Xg.31774173A>GCA515859427DMDc.2175T>C (p.Thr725=)
c.-52T>C (n.-52T>C)
n.990T>C
n.912T>C
n.821T>C
c.7329T>C (p.Thr2443=)
c.3297T>C (p.Thr1099=)
c.318T>C (p.Thr106=)
c.417T>C (p.Thr139=)
c.7317T>C (p.Thr2439=)
c.86T>C (p.Leu29Pro)
c.7314T>C (p.Thr2438=)
c.7326T>C (p.Thr2442=)
c.7305T>C (p.Thr2435=)
c.6960T>C (p.Thr2320=)
c.3306T>C (p.Thr1102=)
c.7200T>C (p.Thr2400=)
c.7191T>C (p.Thr2397=)
c.7206T>C (p.Thr2402=)
c.1503T>C (p.Thr501=)
Xg.31774173A>TCA515859428DMDc.2175T>A (p.Thr725=)
c.-52T>A (n.-52T>A)
n.990T>A
n.912T>A
n.821T>A
c.7329T>A (p.Thr2443=)
c.3297T>A (p.Thr1099=)
c.318T>A (p.Thr106=)
c.417T>A (p.Thr139=)
c.7317T>A (p.Thr2439=)
c.86T>A (p.Leu29His)
c.7314T>A (p.Thr2438=)
c.7326T>A (p.Thr2442=)
c.7305T>A (p.Thr2435=)
c.6960T>A (p.Thr2320=)
c.3306T>A (p.Thr1102=)
c.7200T>A (p.Thr2400=)
c.7191T>A (p.Thr2397=)
c.7206T>A (p.Thr2402=)
c.1503T>A (p.Thr501=)
Xg.31774174G>ACA412659163DMDc.2174C>T (p.Thr725Ile)
c.-53C>T (n.-53C>T)
n.989C>T
n.911C>T
n.820C>T
c.7328C>T (p.Thr2443Ile)
c.3296C>T (p.Thr1099Ile)
c.317C>T (p.Thr106Ile)
c.416C>T (p.Thr139Ile)
c.7316C>T (p.Thr2439Ile)
c.85C>T (p.Leu29Phe)
c.7313C>T (p.Thr2438Ile)
c.7325C>T (p.Thr2442Ile)
c.7304C>T (p.Thr2435Ile)
c.6959C>T (p.Thr2320Ile)
c.3305C>T (p.Thr1102Ile)
c.7199C>T (p.Thr2400Ile)
c.7190C>T (p.Thr2397Ile)
c.7205C>T (p.Thr2402Ile)
c.1502C>T (p.Thr501Ile)
 dbSNP gnomAD v4
Xg.31774174G>CCA412659165DMDc.2174C>G (p.Thr725Ser)
c.-53C>G (n.-53C>G)
n.989C>G
n.911C>G
n.820C>G
c.7328C>G (p.Thr2443Ser)
c.3296C>G (p.Thr1099Ser)
c.317C>G (p.Thr106Ser)
c.416C>G (p.Thr139Ser)
c.7316C>G (p.Thr2439Ser)
c.85C>G (p.Leu29Val)
c.7313C>G (p.Thr2438Ser)
c.7325C>G (p.Thr2442Ser)
c.7304C>G (p.Thr2435Ser)
c.6959C>G (p.Thr2320Ser)
c.3305C>G (p.Thr1102Ser)
c.7199C>G (p.Thr2400Ser)
c.7190C>G (p.Thr2397Ser)
c.7205C>G (p.Thr2402Ser)
c.1502C>G (p.Thr501Ser)
Xg.31774174G=CA2422548675DMDc.2174C= (p.Thr725=)
c.-53C= (n.-53C=)
n.989C=
n.911C=
n.820C=
c.7328C= (p.Thr2443=)
c.3296C= (p.Thr1099=)
c.317C= (p.Thr106=)
c.416C= (p.Thr139=)
c.7316C= (p.Thr2439=)
c.85C= (p.Leu29=)
c.7313C= (p.Thr2438=)
c.7325C= (p.Thr2442=)
c.7304C= (p.Thr2435=)
c.6959C= (p.Thr2320=)
c.3305C= (p.Thr1102=)
c.7199C= (p.Thr2400=)
c.7190C= (p.Thr2397=)
c.7205C= (p.Thr2402=)
c.1502C= (p.Thr501=)
Xg.31774174G>TCA412659164DMDc.2174C>A (p.Thr725Asn)
c.-53C>A (n.-53C>A)
n.989C>A
n.911C>A
n.820C>A
c.7328C>A (p.Thr2443Asn)
c.3296C>A (p.Thr1099Asn)
c.317C>A (p.Thr106Asn)
c.416C>A (p.Thr139Asn)
c.7316C>A (p.Thr2439Asn)
c.85C>A (p.Leu29Ile)
c.7313C>A (p.Thr2438Asn)
c.7325C>A (p.Thr2442Asn)
c.7304C>A (p.Thr2435Asn)
c.6959C>A (p.Thr2320Asn)
c.3305C>A (p.Thr1102Asn)
c.7199C>A (p.Thr2400Asn)
c.7190C>A (p.Thr2397Asn)
c.7205C>A (p.Thr2402Asn)
c.1502C>A (p.Thr501Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.31774174_31774175delCA2580100616DMDc.2173_2174del (p.Thr725SerfsTer9)
c.-54_-53del (n.-54_-53del)
n.988_989del
n.910_911del
n.819_820del
c.7327_7328del (p.Thr2443SerfsTer9)
c.3295_3296del (p.Thr1099SerfsTer9)
c.316_317del (p.Thr106SerfsTer9)
c.415_416del (p.Thr139SerfsTer9)
c.7315_7316del (p.Thr2439SerfsTer9)
c.84_85del (p.Leu28PhefsTer?)
c.7312_7313del (p.Thr2438SerfsTer9)
c.7324_7325del (p.Thr2442SerfsTer9)
c.7303_7304del (p.Thr2435SerfsTer9)
c.6958_6959del (p.Thr2320SerfsTer9)
c.3304_3305del (p.Thr1102SerfsTer9)
c.7198_7199del (p.Thr2400SerfsTer9)
c.7189_7190del (p.Thr2397SerfsTer9)
c.7204_7205del (p.Thr2402SerfsTer9)
c.1501_1502del (p.Thr501SerfsTer9)
 ClinVar
Xg.31774175T>ACA412659166DMDc.2173A>T (p.Thr725Ser)
c.-54A>T (n.-54A>T)
n.988A>T
n.910A>T
n.819A>T
c.7327A>T (p.Thr2443Ser)
c.3295A>T (p.Thr1099Ser)
c.316A>T (p.Thr106Ser)
c.415A>T (p.Thr139Ser)
c.7315A>T (p.Thr2439Ser)
c.84A>T (p.Leu28Phe)
c.7312A>T (p.Thr2438Ser)
c.7324A>T (p.Thr2442Ser)
c.7303A>T (p.Thr2435Ser)
c.6958A>T (p.Thr2320Ser)
c.3304A>T (p.Thr1102Ser)
c.7198A>T (p.Thr2400Ser)
c.7189A>T (p.Thr2397Ser)
c.7204A>T (p.Thr2402Ser)
c.1501A>T (p.Thr501Ser)
Xg.31774175T>CCA412659167DMDc.2173A>G (p.Thr725Ala)
c.-54A>G (n.-54A>G)
n.988A>G
n.910A>G
n.819A>G
c.7327A>G (p.Thr2443Ala)
c.3295A>G (p.Thr1099Ala)
c.316A>G (p.Thr106Ala)
c.415A>G (p.Thr139Ala)
c.7315A>G (p.Thr2439Ala)
c.84A>G (p.Leu28=)
c.7312A>G (p.Thr2438Ala)
c.7324A>G (p.Thr2442Ala)
c.7303A>G (p.Thr2435Ala)
c.6958A>G (p.Thr2320Ala)
c.3304A>G (p.Thr1102Ala)
c.7198A>G (p.Thr2400Ala)
c.7189A>G (p.Thr2397Ala)
c.7204A>G (p.Thr2402Ala)
c.1501A>G (p.Thr501Ala)
Xg.31774175T>GCA10378287DMDc.2173A>C (p.Thr725Pro)
c.-54A>C (n.-54A>C)
n.988A>C
n.910A>C
n.819A>C
c.7327A>C (p.Thr2443Pro)
c.3295A>C (p.Thr1099Pro)
c.316A>C (p.Thr106Pro)
c.415A>C (p.Thr139Pro)
c.7315A>C (p.Thr2439Pro)
c.84A>C (p.Leu28Phe)
c.7312A>C (p.Thr2438Pro)
c.7324A>C (p.Thr2442Pro)
c.7303A>C (p.Thr2435Pro)
c.6958A>C (p.Thr2320Pro)
c.3304A>C (p.Thr1102Pro)
c.7198A>C (p.Thr2400Pro)
c.7189A>C (p.Thr2397Pro)
c.7204A>C (p.Thr2402Pro)
c.1501A>C (p.Thr501Pro)
 ClinVar dbSNP ExAC
Xg.31774175T=CA2422548676DMDc.2173A= (p.Thr725=)
c.-54A= (n.-54A=)
n.988A=
n.910A=
n.819A=
c.7327A= (p.Thr2443=)
c.3295A= (p.Thr1099=)
c.316A= (p.Thr106=)
c.415A= (p.Thr139=)
c.7315A= (p.Thr2439=)
c.84A= (p.Leu28=)
c.7312A= (p.Thr2438=)
c.7324A= (p.Thr2442=)
c.7303A= (p.Thr2435=)
c.6958A= (p.Thr2320=)
c.3304A= (p.Thr1102=)
c.7198A= (p.Thr2400=)
c.7189A= (p.Thr2397=)
c.7204A= (p.Thr2402=)
c.1501A= (p.Thr501=)
Xg.31774175dupCA2695232468DMDc.2173dup (p.Thr725AsnfsTer10)
c.-54dup (n.-54dup)
n.988dup
n.910dup
n.819dup
c.7327dup (p.Thr2443AsnfsTer10)
c.3295dup (p.Thr1099AsnfsTer10)
c.316dup (p.Thr106AsnfsTer10)
c.415dup (p.Thr139AsnfsTer10)
c.7315dup (p.Thr2439AsnfsTer10)
c.84dup (p.Leu29ThrfsTer?)
c.7312dup (p.Thr2438AsnfsTer10)
c.7324dup (p.Thr2442AsnfsTer10)
c.7303dup (p.Thr2435AsnfsTer10)
c.6958dup (p.Thr2320AsnfsTer10)
c.3304dup (p.Thr1102AsnfsTer10)
c.7198dup (p.Thr2400AsnfsTer10)
c.7189dup (p.Thr2397AsnfsTer10)
c.7204dup (p.Thr2402AsnfsTer10)
c.1501dup (p.Thr501AsnfsTer10)
Xg.31774176A=CA2422548677DMDc.2172T= (p.Val724=)
c.-55T= (n.-55T=)
n.987T=
n.909T=
n.818T=
c.7326T= (p.Val2442=)
c.3294T= (p.Val1098=)
c.315T= (p.Val105=)
c.414T= (p.Val138=)
c.7314T= (p.Val2438=)
c.83T= (p.Leu28=)
c.7311T= (p.Val2437=)
c.7323T= (p.Val2441=)
c.7302T= (p.Val2434=)
c.6957T= (p.Val2319=)
c.3303T= (p.Val1101=)
c.7197T= (p.Val2399=)
c.7188T= (p.Val2396=)
c.7203T= (p.Val2401=)
c.1500T= (p.Val500=)
Xg.31774176A>CCA515859429DMDc.2172T>G (p.Val724=)
c.-55T>G (n.-55T>G)
n.987T>G
n.909T>G
n.818T>G
c.7326T>G (p.Val2442=)
c.3294T>G (p.Val1098=)
c.315T>G (p.Val105=)
c.414T>G (p.Val138=)
c.7314T>G (p.Val2438=)
c.83T>G (p.Leu28Ter)
c.7311T>G (p.Val2437=)
c.7323T>G (p.Val2441=)
c.7302T>G (p.Val2434=)
c.6957T>G (p.Val2319=)
c.3303T>G (p.Val1101=)
c.7197T>G (p.Val2399=)
c.7188T>G (p.Val2396=)
c.7203T>G (p.Val2401=)
c.1500T>G (p.Val500=)
Xg.31774176A>GCA10378288DMDc.2172T>C (p.Val724=)
c.-55T>C (n.-55T>C)
n.987T>C
n.909T>C
n.818T>C
c.7326T>C (p.Val2442=)
c.3294T>C (p.Val1098=)
c.315T>C (p.Val105=)
c.414T>C (p.Val138=)
c.7314T>C (p.Val2438=)
c.83T>C (p.Leu28Ser)
c.7311T>C (p.Val2437=)
c.7323T>C (p.Val2441=)
c.7302T>C (p.Val2434=)
c.6957T>C (p.Val2319=)
c.3303T>C (p.Val1101=)
c.7197T>C (p.Val2399=)
c.7188T>C (p.Val2396=)
c.7203T>C (p.Val2401=)
c.1500T>C (p.Val500=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.31774176A>TCA515859430DMDc.2172T>A (p.Val724=)
c.-55T>A (n.-55T>A)
n.987T>A
n.909T>A
n.818T>A
c.7326T>A (p.Val2442=)
c.3294T>A (p.Val1098=)
c.315T>A (p.Val105=)
c.414T>A (p.Val138=)
c.7314T>A (p.Val2438=)
c.83T>A (p.Leu28Ter)
c.7311T>A (p.Val2437=)
c.7323T>A (p.Val2441=)
c.7302T>A (p.Val2434=)
c.6957T>A (p.Val2319=)
c.3303T>A (p.Val1101=)
c.7197T>A (p.Val2399=)
c.7188T>A (p.Val2396=)
c.7203T>A (p.Val2401=)
c.1500T>A (p.Val500=)
Xg.31774177A>CCA412659168DMDc.2171T>G (p.Val724Gly)
c.-56T>G (n.-56T>G)
n.986T>G
n.908T>G
n.817T>G
c.7325T>G (p.Val2442Gly)
c.3293T>G (p.Val1098Gly)
c.314T>G (p.Val105Gly)
c.413T>G (p.Val138Gly)
c.7313T>G (p.Val2438Gly)
c.82T>G (p.Leu28Val)
c.7310T>G (p.Val2437Gly)
c.7322T>G (p.Val2441Gly)
c.7301T>G (p.Val2434Gly)
c.6956T>G (p.Val2319Gly)
c.3302T>G (p.Val1101Gly)
c.7196T>G (p.Val2399Gly)
c.7187T>G (p.Val2396Gly)
c.7202T>G (p.Val2401Gly)
c.1499T>G (p.Val500Gly)
Xg.31774177A>GCA412659169DMDc.2171T>C (p.Val724Ala)
c.-56T>C (n.-56T>C)
n.986T>C
n.908T>C
n.817T>C
c.7325T>C (p.Val2442Ala)
c.3293T>C (p.Val1098Ala)
c.314T>C (p.Val105Ala)
c.413T>C (p.Val138Ala)
c.7313T>C (p.Val2438Ala)
c.82T>C (p.Leu28=)
c.7310T>C (p.Val2437Ala)
c.7322T>C (p.Val2441Ala)
c.7301T>C (p.Val2434Ala)
c.6956T>C (p.Val2319Ala)
c.3302T>C (p.Val1101Ala)
c.7196T>C (p.Val2399Ala)
c.7187T>C (p.Val2396Ala)
c.7202T>C (p.Val2401Ala)
c.1499T>C (p.Val500Ala)
Xg.31774177A>TCA412659170DMDc.2171T>A (p.Val724Asp)
c.-56T>A (n.-56T>A)
n.986T>A
n.908T>A
n.817T>A
c.7325T>A (p.Val2442Asp)
c.3293T>A (p.Val1098Asp)
c.314T>A (p.Val105Asp)
c.413T>A (p.Val138Asp)
c.7313T>A (p.Val2438Asp)
c.82T>A (p.Leu28Ile)
c.7310T>A (p.Val2437Asp)
c.7322T>A (p.Val2441Asp)
c.7301T>A (p.Val2434Asp)
c.6956T>A (p.Val2319Asp)
c.3302T>A (p.Val1101Asp)
c.7196T>A (p.Val2399Asp)
c.7187T>A (p.Val2396Asp)
c.7202T>A (p.Val2401Asp)
c.1499T>A (p.Val500Asp)
Xg.31774178C>ACA412659171DMDc.2170G>T (p.Val724Phe)
c.-57G>T (n.-57G>T)
n.985G>T
n.907G>T
n.816G>T
c.7324G>T (p.Val2442Phe)
c.3292G>T (p.Val1098Phe)
c.313G>T (p.Val105Phe)
c.412G>T (p.Val138Phe)
c.7312G>T (p.Val2438Phe)
c.81G>T (p.Leu27=)
c.7309G>T (p.Val2437Phe)
c.7321G>T (p.Val2441Phe)
c.7300G>T (p.Val2434Phe)
c.6955G>T (p.Val2319Phe)
c.3301G>T (p.Val1101Phe)
c.7195G>T (p.Val2399Phe)
c.7186G>T (p.Val2396Phe)
c.7201G>T (p.Val2401Phe)
c.1498G>T (p.Val500Phe)
Xg.31774178C=CA2422548678DMDc.2170G= (p.Val724=)
c.-57G= (n.-57G=)
n.985G=
n.907G=
n.816G=
c.7324G= (p.Val2442=)
c.3292G= (p.Val1098=)
c.313G= (p.Val105=)
c.412G= (p.Val138=)
c.7312G= (p.Val2438=)
c.81G= (p.Leu27=)
c.7309G= (p.Val2437=)
c.7321G= (p.Val2441=)
c.7300G= (p.Val2434=)
c.6955G= (p.Val2319=)
c.3301G= (p.Val1101=)
c.7195G= (p.Val2399=)
c.7186G= (p.Val2396=)
c.7201G= (p.Val2401=)
c.1498G= (p.Val500=)
Xg.31774178C>GCA412659172DMDc.2170G>C (p.Val724Leu)
c.-57G>C (n.-57G>C)
n.985G>C
n.907G>C
n.816G>C
c.7324G>C (p.Val2442Leu)
c.3292G>C (p.Val1098Leu)
c.313G>C (p.Val105Leu)
c.412G>C (p.Val138Leu)
c.7312G>C (p.Val2438Leu)
c.81G>C (p.Leu27=)
c.7309G>C (p.Val2437Leu)
c.7321G>C (p.Val2441Leu)
c.7300G>C (p.Val2434Leu)
c.6955G>C (p.Val2319Leu)
c.3301G>C (p.Val1101Leu)
c.7195G>C (p.Val2399Leu)
c.7186G>C (p.Val2396Leu)
c.7201G>C (p.Val2401Leu)
c.1498G>C (p.Val500Leu)
Xg.31774178C>TCA412659173DMDc.2170G>A (p.Val724Ile)
c.-57G>A (n.-57G>A)
n.985G>A
n.907G>A
n.816G>A
c.7324G>A (p.Val2442Ile)
c.3292G>A (p.Val1098Ile)
c.313G>A (p.Val105Ile)
c.412G>A (p.Val138Ile)
c.7312G>A (p.Val2438Ile)
c.81G>A (p.Leu27=)
c.7309G>A (p.Val2437Ile)
c.7321G>A (p.Val2441Ile)
c.7300G>A (p.Val2434Ile)
c.6955G>A (p.Val2319Ile)
c.3301G>A (p.Val1101Ile)
c.7195G>A (p.Val2399Ile)
c.7186G>A (p.Val2396Ile)
c.7201G>A (p.Val2401Ile)
c.1498G>A (p.Val500Ile)
 dbSNP gnomAD v4
Xg.31774179A=CA2422548679DMDc.2169T= (p.Thr723=)
c.-58T= (n.-58T=)
n.984T=
n.906T=
n.815T=
c.7323T= (p.Thr2441=)
c.3291T= (p.Thr1097=)
c.312T= (p.Thr104=)
c.411T= (p.Thr137=)
c.7311T= (p.Thr2437=)
c.80T= (p.Leu27=)
c.7308T= (p.Thr2436=)
c.7320T= (p.Thr2440=)
c.7299T= (p.Thr2433=)
c.6954T= (p.Thr2318=)
c.3300T= (p.Thr1100=)
c.7194T= (p.Thr2398=)
c.7185T= (p.Thr2395=)
c.7200T= (p.Thr2400=)
c.1497T= (p.Thr499=)
Xg.31774179A>CCA515859432DMDc.2169T>G (p.Thr723=)
c.-58T>G (n.-58T>G)
n.984T>G
n.906T>G
n.815T>G
c.7323T>G (p.Thr2441=)
c.3291T>G (p.Thr1097=)
c.312T>G (p.Thr104=)
c.411T>G (p.Thr137=)
c.7311T>G (p.Thr2437=)
c.80T>G (p.Leu27Arg)
c.7308T>G (p.Thr2436=)
c.7320T>G (p.Thr2440=)
c.7299T>G (p.Thr2433=)
c.6954T>G (p.Thr2318=)
c.3300T>G (p.Thr1100=)
c.7194T>G (p.Thr2398=)
c.7185T>G (p.Thr2395=)
c.7200T>G (p.Thr2400=)
c.1497T>G (p.Thr499=)
Xg.31774179A>GCA222490DMDc.2169T>C (p.Thr723=)
c.-58T>C (n.-58T>C)
n.984T>C
n.906T>C
n.815T>C
c.7323T>C (p.Thr2441=)
c.3291T>C (p.Thr1097=)
c.312T>C (p.Thr104=)
c.411T>C (p.Thr137=)
c.7311T>C (p.Thr2437=)
c.80T>C (p.Leu27Pro)
c.7308T>C (p.Thr2436=)
c.7320T>C (p.Thr2440=)
c.7299T>C (p.Thr2433=)
c.6954T>C (p.Thr2318=)
c.3300T>C (p.Thr1100=)
c.7194T>C (p.Thr2398=)
c.7185T>C (p.Thr2395=)
c.7200T>C (p.Thr2400=)
c.1497T>C (p.Thr499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774179A>TCA515859431DMDc.2169T>A (p.Thr723=)
c.-58T>A (n.-58T>A)
n.984T>A
n.906T>A
n.815T>A
c.7323T>A (p.Thr2441=)
c.3291T>A (p.Thr1097=)
c.312T>A (p.Thr104=)
c.411T>A (p.Thr137=)
c.7311T>A (p.Thr2437=)
c.80T>A (p.Leu27Gln)
c.7308T>A (p.Thr2436=)
c.7320T>A (p.Thr2440=)
c.7299T>A (p.Thr2433=)
c.6954T>A (p.Thr2318=)
c.3300T>A (p.Thr1100=)
c.7194T>A (p.Thr2398=)
c.7185T>A (p.Thr2395=)
c.7200T>A (p.Thr2400=)
c.1497T>A (p.Thr499=)
 ClinVar
Xg.31774180G>ACA412659176DMDc.2168C>T (p.Thr723Ile)
c.-59C>T (n.-59C>T)
n.983C>T
n.905C>T
n.814C>T
c.7322C>T (p.Thr2441Ile)
c.3290C>T (p.Thr1097Ile)
c.311C>T (p.Thr104Ile)
c.410C>T (p.Thr137Ile)
c.7310C>T (p.Thr2437Ile)
c.79C>T (p.Leu27=)
c.7307C>T (p.Thr2436Ile)
c.7319C>T (p.Thr2440Ile)
c.7298C>T (p.Thr2433Ile)
c.6953C>T (p.Thr2318Ile)
c.3299C>T (p.Thr1100Ile)
c.7193C>T (p.Thr2398Ile)
c.7184C>T (p.Thr2395Ile)
c.7199C>T (p.Thr2400Ile)
c.1496C>T (p.Thr499Ile)
Xg.31774180G>CCA412659175DMDc.2168C>G (p.Thr723Ser)
c.-59C>G (n.-59C>G)
n.983C>G
n.905C>G
n.814C>G
c.7322C>G (p.Thr2441Ser)
c.3290C>G (p.Thr1097Ser)
c.311C>G (p.Thr104Ser)
c.410C>G (p.Thr137Ser)
c.7310C>G (p.Thr2437Ser)
c.79C>G (p.Leu27Val)
c.7307C>G (p.Thr2436Ser)
c.7319C>G (p.Thr2440Ser)
c.7298C>G (p.Thr2433Ser)
c.6953C>G (p.Thr2318Ser)
c.3299C>G (p.Thr1100Ser)
c.7193C>G (p.Thr2398Ser)
c.7184C>G (p.Thr2395Ser)
c.7199C>G (p.Thr2400Ser)
c.1496C>G (p.Thr499Ser)
Xg.31774180G>TCA412659174DMDc.2168C>A (p.Thr723Asn)
c.-59C>A (n.-59C>A)
n.983C>A
n.905C>A
n.814C>A
c.7322C>A (p.Thr2441Asn)
c.3290C>A (p.Thr1097Asn)
c.311C>A (p.Thr104Asn)
c.410C>A (p.Thr137Asn)
c.7310C>A (p.Thr2437Asn)
c.79C>A (p.Leu27Met)
c.7307C>A (p.Thr2436Asn)
c.7319C>A (p.Thr2440Asn)
c.7298C>A (p.Thr2433Asn)
c.6953C>A (p.Thr2318Asn)
c.3299C>A (p.Thr1100Asn)
c.7193C>A (p.Thr2398Asn)
c.7184C>A (p.Thr2395Asn)
c.7199C>A (p.Thr2400Asn)
c.1496C>A (p.Thr499Asn)
Xg.31774181T>ACA412659177DMDc.2167A>T (p.Thr723Ser)
c.-60A>T (n.-60A>T)
n.982A>T
n.904A>T
n.813A>T
c.7321A>T (p.Thr2441Ser)
c.3289A>T (p.Thr1097Ser)
c.310A>T (p.Thr104Ser)
c.409A>T (p.Thr137Ser)
c.7309A>T (p.Thr2437Ser)
c.78A>T (p.Arg26Ser)
c.7306A>T (p.Thr2436Ser)
c.7318A>T (p.Thr2440Ser)
c.7297A>T (p.Thr2433Ser)
c.6952A>T (p.Thr2318Ser)
c.3298A>T (p.Thr1100Ser)
c.7192A>T (p.Thr2398Ser)
c.7183A>T (p.Thr2395Ser)
c.7198A>T (p.Thr2400Ser)
c.1495A>T (p.Thr499Ser)
Xg.31774181T>CCA412659178DMDc.2167A>G (p.Thr723Ala)
c.-60A>G (n.-60A>G)
n.982A>G
n.904A>G
n.813A>G
c.7321A>G (p.Thr2441Ala)
c.3289A>G (p.Thr1097Ala)
c.310A>G (p.Thr104Ala)
c.409A>G (p.Thr137Ala)
c.7309A>G (p.Thr2437Ala)
c.78A>G (p.Arg26=)
c.7306A>G (p.Thr2436Ala)
c.7318A>G (p.Thr2440Ala)
c.7297A>G (p.Thr2433Ala)
c.6952A>G (p.Thr2318Ala)
c.3298A>G (p.Thr1100Ala)
c.7192A>G (p.Thr2398Ala)
c.7183A>G (p.Thr2395Ala)
c.7198A>G (p.Thr2400Ala)
c.1495A>G (p.Thr499Ala)
Xg.31774181T>GCA10378289DMDc.2167A>C (p.Thr723Pro)
c.-60A>C (n.-60A>C)
n.982A>C
n.904A>C
n.813A>C
c.7321A>C (p.Thr2441Pro)
c.3289A>C (p.Thr1097Pro)
c.310A>C (p.Thr104Pro)
c.409A>C (p.Thr137Pro)
c.7309A>C (p.Thr2437Pro)
c.78A>C (p.Arg26Ser)
c.7306A>C (p.Thr2436Pro)
c.7318A>C (p.Thr2440Pro)
c.7297A>C (p.Thr2433Pro)
c.6952A>C (p.Thr2318Pro)
c.3298A>C (p.Thr1100Pro)
c.7192A>C (p.Thr2398Pro)
c.7183A>C (p.Thr2395Pro)
c.7198A>C (p.Thr2400Pro)
c.1495A>C (p.Thr499Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774181T=CA2422548680DMDc.2167A= (p.Thr723=)
c.-60A= (n.-60A=)
n.982A=
n.904A=
n.813A=
c.7321A= (p.Thr2441=)
c.3289A= (p.Thr1097=)
c.310A= (p.Thr104=)
c.409A= (p.Thr137=)
c.7309A= (p.Thr2437=)
c.78A= (p.Arg26=)
c.7306A= (p.Thr2436=)
c.7318A= (p.Thr2440=)
c.7297A= (p.Thr2433=)
c.6952A= (p.Thr2318=)
c.3298A= (p.Thr1100=)
c.7192A= (p.Thr2398=)
c.7183A= (p.Thr2395=)
c.7198A= (p.Thr2400=)
c.1495A= (p.Thr499=)
Xg.31774182C>ACA412659179DMDc.2166G>T (p.Gln722His)
c.-61G>T (n.-61G>T)
n.981G>T
n.903G>T
n.812G>T
c.7320G>T (p.Gln2440His)
c.3288G>T (p.Gln1096His)
c.309G>T (p.Gln103His)
c.408G>T (p.Gln136His)
c.7308G>T (p.Gln2436His)
c.77G>T (p.Arg26Ile)
c.7305G>T (p.Gln2435His)
c.7317G>T (p.Gln2439His)
c.7296G>T (p.Gln2432His)
c.6951G>T (p.Gln2317His)
c.3297G>T (p.Gln1099His)
c.7191G>T (p.Gln2397His)
c.7182G>T (p.Gln2394His)
c.7197G>T (p.Gln2399His)
c.1494G>T (p.Gln498His)
Xg.31774182C=CA2422548681DMDc.2166G= (p.Gln722=)
c.-61G= (n.-61G=)
n.981G=
n.903G=
n.812G=
c.7320G= (p.Gln2440=)
c.3288G= (p.Gln1096=)
c.309G= (p.Gln103=)
c.408G= (p.Gln136=)
c.7308G= (p.Gln2436=)
c.77G= (p.Arg26=)
c.7305G= (p.Gln2435=)
c.7317G= (p.Gln2439=)
c.7296G= (p.Gln2432=)
c.6951G= (p.Gln2317=)
c.3297G= (p.Gln1099=)
c.7191G= (p.Gln2397=)
c.7182G= (p.Gln2394=)
c.7197G= (p.Gln2399=)
c.1494G= (p.Gln498=)
Xg.31774182C>GCA412659180DMDc.2166G>C (p.Gln722His)
c.-61G>C (n.-61G>C)
n.981G>C
n.903G>C
n.812G>C
c.7320G>C (p.Gln2440His)
c.3288G>C (p.Gln1096His)
c.309G>C (p.Gln103His)
c.408G>C (p.Gln136His)
c.7308G>C (p.Gln2436His)
c.77G>C (p.Arg26Thr)
c.7305G>C (p.Gln2435His)
c.7317G>C (p.Gln2439His)
c.7296G>C (p.Gln2432His)
c.6951G>C (p.Gln2317His)
c.3297G>C (p.Gln1099His)
c.7191G>C (p.Gln2397His)
c.7182G>C (p.Gln2394His)
c.7197G>C (p.Gln2399His)
c.1494G>C (p.Gln498His)
Xg.31774182C>TCA515859434DMDc.2166G>A (p.Gln722=)
c.-61G>A (n.-61G>A)
n.981G>A
n.903G>A
n.812G>A
c.7320G>A (p.Gln2440=)
c.3288G>A (p.Gln1096=)
c.309G>A (p.Gln103=)
c.408G>A (p.Gln136=)
c.7308G>A (p.Gln2436=)
c.77G>A (p.Arg26Lys)
c.7305G>A (p.Gln2435=)
c.7317G>A (p.Gln2439=)
c.7296G>A (p.Gln2432=)
c.6951G>A (p.Gln2317=)
c.3297G>A (p.Gln1099=)
c.7191G>A (p.Gln2397=)
c.7182G>A (p.Gln2394=)
c.7197G>A (p.Gln2399=)
c.1494G>A (p.Gln498=)
 ClinVar dbSNP
Xg.31774183T>ACA412659181DMDc.2165A>T (p.Gln722Leu)
c.-62A>T (n.-62A>T)
n.980A>T
n.902A>T
n.811A>T
c.7319A>T (p.Gln2440Leu)
c.3287A>T (p.Gln1096Leu)
c.308A>T (p.Gln103Leu)
c.407A>T (p.Gln136Leu)
c.7307A>T (p.Gln2436Leu)
c.76A>T (p.Arg26Ter)
c.7304A>T (p.Gln2435Leu)
c.7316A>T (p.Gln2439Leu)
c.7295A>T (p.Gln2432Leu)
c.6950A>T (p.Gln2317Leu)
c.3296A>T (p.Gln1099Leu)
c.7190A>T (p.Gln2397Leu)
c.7181A>T (p.Gln2394Leu)
c.7196A>T (p.Gln2399Leu)
c.1493A>T (p.Gln498Leu)
Xg.31774183T>CCA412659182DMDc.2165A>G (p.Gln722Arg)
c.-62A>G (n.-62A>G)
n.980A>G
n.902A>G
n.811A>G
c.7319A>G (p.Gln2440Arg)
c.3287A>G (p.Gln1096Arg)
c.308A>G (p.Gln103Arg)
c.407A>G (p.Gln136Arg)
c.7307A>G (p.Gln2436Arg)
c.76A>G (p.Arg26Gly)
c.7304A>G (p.Gln2435Arg)
c.7316A>G (p.Gln2439Arg)
c.7295A>G (p.Gln2432Arg)
c.6950A>G (p.Gln2317Arg)
c.3296A>G (p.Gln1099Arg)
c.7190A>G (p.Gln2397Arg)
c.7181A>G (p.Gln2394Arg)
c.7196A>G (p.Gln2399Arg)
c.1493A>G (p.Gln498Arg)
 gnomAD v4
Xg.31774183T>GCA412659183DMDc.2165A>C (p.Gln722Pro)
c.-62A>C (n.-62A>C)
n.980A>C
n.902A>C
n.811A>C
c.7319A>C (p.Gln2440Pro)
c.3287A>C (p.Gln1096Pro)
c.308A>C (p.Gln103Pro)
c.407A>C (p.Gln136Pro)
c.7307A>C (p.Gln2436Pro)
c.76A>C (p.Arg26=)
c.7304A>C (p.Gln2435Pro)
c.7316A>C (p.Gln2439Pro)
c.7295A>C (p.Gln2432Pro)
c.6950A>C (p.Gln2317Pro)
c.3296A>C (p.Gln1099Pro)
c.7190A>C (p.Gln2397Pro)
c.7181A>C (p.Gln2394Pro)
c.7196A>C (p.Gln2399Pro)
c.1493A>C (p.Gln498Pro)
Xg.31774183dupCA658799657DMDc.2165dup (p.Thr723AspfsTer12)
c.-62dup (n.-62dup)
n.980dup
n.902dup
n.811dup
c.7319dup (p.Thr2441AspfsTer12)
c.3287dup (p.Thr1097AspfsTer12)
c.308dup (p.Thr104AspfsTer12)
c.407dup (p.Thr137AspfsTer12)
c.7307dup (p.Thr2437AspfsTer12)
c.76dup (p.Arg26LysfsTer?)
c.7304dup (p.Thr2436AspfsTer12)
c.7316dup (p.Thr2440AspfsTer12)
c.7295dup (p.Thr2433AspfsTer12)
c.6950dup (p.Thr2318AspfsTer12)
c.3296dup (p.Thr1100AspfsTer12)
c.7190dup (p.Thr2398AspfsTer12)
c.7181dup (p.Thr2395AspfsTer12)
c.7196dup (p.Thr2400AspfsTer12)
c.1493dup (p.Thr499AspfsTer12)
 ClinVar dbSNP
Xg.31774184G>ACA412659184DMDc.2164C>T (p.Gln722Ter)
c.-63C>T (n.-63C>T)
n.979C>T
n.901C>T
n.810C>T
c.7318C>T (p.Gln2440Ter)
c.3286C>T (p.Gln1096Ter)
c.307C>T (p.Gln103Ter)
c.406C>T (p.Gln136Ter)
c.7306C>T (p.Gln2436Ter)
c.75C>T (p.Leu25=)
c.7303C>T (p.Gln2435Ter)
c.7315C>T (p.Gln2439Ter)
c.7294C>T (p.Gln2432Ter)
c.6949C>T (p.Gln2317Ter)
c.3295C>T (p.Gln1099Ter)
c.7189C>T (p.Gln2397Ter)
c.7180C>T (p.Gln2394Ter)
c.7195C>T (p.Gln2399Ter)
c.1492C>T (p.Gln498Ter)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.31774184G>CCA412659185DMDc.2164C>G (p.Gln722Glu)
c.-63C>G (n.-63C>G)
n.979C>G
n.901C>G
n.810C>G
c.7318C>G (p.Gln2440Glu)
c.3286C>G (p.Gln1096Glu)
c.307C>G (p.Gln103Glu)
c.406C>G (p.Gln136Glu)
c.7306C>G (p.Gln2436Glu)
c.75C>G (p.Leu25=)
c.7303C>G (p.Gln2435Glu)
c.7315C>G (p.Gln2439Glu)
c.7294C>G (p.Gln2432Glu)
c.6949C>G (p.Gln2317Glu)
c.3295C>G (p.Gln1099Glu)
c.7189C>G (p.Gln2397Glu)
c.7180C>G (p.Gln2394Glu)
c.7195C>G (p.Gln2399Glu)
c.1492C>G (p.Gln498Glu)
Xg.31774184G>TCA412659186DMDc.2164C>A (p.Gln722Lys)
c.-63C>A (n.-63C>A)
n.979C>A
n.901C>A
n.810C>A
c.7318C>A (p.Gln2440Lys)
c.3286C>A (p.Gln1096Lys)
c.307C>A (p.Gln103Lys)
c.406C>A (p.Gln136Lys)
c.7306C>A (p.Gln2436Lys)
c.75C>A (p.Leu25=)
c.7303C>A (p.Gln2435Lys)
c.7315C>A (p.Gln2439Lys)
c.7294C>A (p.Gln2432Lys)
c.6949C>A (p.Gln2317Lys)
c.3295C>A (p.Gln1099Lys)
c.7189C>A (p.Gln2397Lys)
c.7180C>A (p.Gln2394Lys)
c.7195C>A (p.Gln2399Lys)
c.1492C>A (p.Gln498Lys)
Xg.31774185A>CCA515859437DMDc.2163T>G (p.Thr721=)
c.-64T>G (n.-64T>G)
n.978T>G
n.900T>G
n.809T>G
c.7317T>G (p.Thr2439=)
c.3285T>G (p.Thr1095=)
c.306T>G (p.Thr102=)
c.405T>G (p.Thr135=)
c.7305T>G (p.Thr2435=)
c.74T>G (p.Leu25Arg)
c.7302T>G (p.Thr2434=)
c.7314T>G (p.Thr2438=)
c.7293T>G (p.Thr2431=)
c.6948T>G (p.Thr2316=)
c.3294T>G (p.Thr1098=)
c.7188T>G (p.Thr2396=)
c.7179T>G (p.Thr2393=)
c.7194T>G (p.Thr2398=)
c.1491T>G (p.Thr497=)
Xg.31774185A>GCA515859439DMDc.2163T>C (p.Thr721=)
c.-64T>C (n.-64T>C)
n.978T>C
n.900T>C
n.809T>C
c.7317T>C (p.Thr2439=)
c.3285T>C (p.Thr1095=)
c.306T>C (p.Thr102=)
c.405T>C (p.Thr135=)
c.7305T>C (p.Thr2435=)
c.74T>C (p.Leu25Pro)
c.7302T>C (p.Thr2434=)
c.7314T>C (p.Thr2438=)
c.7293T>C (p.Thr2431=)
c.6948T>C (p.Thr2316=)
c.3294T>C (p.Thr1098=)
c.7188T>C (p.Thr2396=)
c.7179T>C (p.Thr2393=)
c.7194T>C (p.Thr2398=)
c.1491T>C (p.Thr497=)
Xg.31774185A>TCA515859438DMDc.2163T>A (p.Thr721=)
c.-64T>A (n.-64T>A)
n.978T>A
n.900T>A
n.809T>A
c.7317T>A (p.Thr2439=)
c.3285T>A (p.Thr1095=)
c.306T>A (p.Thr102=)
c.405T>A (p.Thr135=)
c.7305T>A (p.Thr2435=)
c.74T>A (p.Leu25His)
c.7302T>A (p.Thr2434=)
c.7314T>A (p.Thr2438=)
c.7293T>A (p.Thr2431=)
c.6948T>A (p.Thr2316=)
c.3294T>A (p.Thr1098=)
c.7188T>A (p.Thr2396=)
c.7179T>A (p.Thr2393=)
c.7194T>A (p.Thr2398=)
c.1491T>A (p.Thr497=)
Xg.31774186G>ACA328470496DMDc.2162C>T (p.Thr721Ile)
c.-65C>T (n.-65C>T)
n.977C>T
n.899C>T
n.808C>T
c.7316C>T (p.Thr2439Ile)
c.3284C>T (p.Thr1095Ile)
c.305C>T (p.Thr102Ile)
c.404C>T (p.Thr135Ile)
c.7304C>T (p.Thr2435Ile)
c.73C>T (p.Leu25Phe)
c.7301C>T (p.Thr2434Ile)
c.7313C>T (p.Thr2438Ile)
c.7292C>T (p.Thr2431Ile)
c.6947C>T (p.Thr2316Ile)
c.3293C>T (p.Thr1098Ile)
c.7187C>T (p.Thr2396Ile)
c.7178C>T (p.Thr2393Ile)
c.7193C>T (p.Thr2398Ile)
c.1490C>T (p.Thr497Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774186G>CCA412659187DMDc.2162C>G (p.Thr721Ser)
c.-65C>G (n.-65C>G)
n.977C>G
n.899C>G
n.808C>G
c.7316C>G (p.Thr2439Ser)
c.3284C>G (p.Thr1095Ser)
c.305C>G (p.Thr102Ser)
c.404C>G (p.Thr135Ser)
c.7304C>G (p.Thr2435Ser)
c.73C>G (p.Leu25Val)
c.7301C>G (p.Thr2434Ser)
c.7313C>G (p.Thr2438Ser)
c.7292C>G (p.Thr2431Ser)
c.6947C>G (p.Thr2316Ser)
c.3293C>G (p.Thr1098Ser)
c.7187C>G (p.Thr2396Ser)
c.7178C>G (p.Thr2393Ser)
c.7193C>G (p.Thr2398Ser)
c.1490C>G (p.Thr497Ser)
Xg.31774186G=CA2422548682DMDc.2162C= (p.Thr721=)
c.-65C= (n.-65C=)
n.977C=
n.899C=
n.808C=
c.7316C= (p.Thr2439=)
c.3284C= (p.Thr1095=)
c.305C= (p.Thr102=)
c.404C= (p.Thr135=)
c.7304C= (p.Thr2435=)
c.73C= (p.Leu25=)
c.7301C= (p.Thr2434=)
c.7313C= (p.Thr2438=)
c.7292C= (p.Thr2431=)
c.6947C= (p.Thr2316=)
c.3293C= (p.Thr1098=)
c.7187C= (p.Thr2396=)
c.7178C= (p.Thr2393=)
c.7193C= (p.Thr2398=)
c.1490C= (p.Thr497=)
Xg.31774186G>TCA412659188DMDc.2162C>A (p.Thr721Asn)
c.-65C>A (n.-65C>A)
n.977C>A
n.899C>A
n.808C>A
c.7316C>A (p.Thr2439Asn)
c.3284C>A (p.Thr1095Asn)
c.305C>A (p.Thr102Asn)
c.404C>A (p.Thr135Asn)
c.7304C>A (p.Thr2435Asn)
c.73C>A (p.Leu25Ile)
c.7301C>A (p.Thr2434Asn)
c.7313C>A (p.Thr2438Asn)
c.7292C>A (p.Thr2431Asn)
c.6947C>A (p.Thr2316Asn)
c.3293C>A (p.Thr1098Asn)
c.7187C>A (p.Thr2396Asn)
c.7178C>A (p.Thr2393Asn)
c.7193C>A (p.Thr2398Asn)
c.1490C>A (p.Thr497Asn)
Xg.31774187T>ACA412659191DMDc.2161A>T (p.Thr721Ser)
c.-66A>T (n.-66A>T)
n.976A>T
n.898A>T
n.807A>T
c.7315A>T (p.Thr2439Ser)
c.3283A>T (p.Thr1095Ser)
c.304A>T (p.Thr102Ser)
c.403A>T (p.Thr135Ser)
c.7303A>T (p.Thr2435Ser)
c.72A>T (p.Leu24=)
c.7300A>T (p.Thr2434Ser)
c.7312A>T (p.Thr2438Ser)
c.7291A>T (p.Thr2431Ser)
c.6946A>T (p.Thr2316Ser)
c.3292A>T (p.Thr1098Ser)
c.7186A>T (p.Thr2396Ser)
c.7177A>T (p.Thr2393Ser)
c.7192A>T (p.Thr2398Ser)
c.1489A>T (p.Thr497Ser)
Xg.31774187T>CCA412659190DMDc.2161A>G (p.Thr721Ala)
c.-66A>G (n.-66A>G)
n.976A>G
n.898A>G
n.807A>G
c.7315A>G (p.Thr2439Ala)
c.3283A>G (p.Thr1095Ala)
c.304A>G (p.Thr102Ala)
c.403A>G (p.Thr135Ala)
c.7303A>G (p.Thr2435Ala)
c.72A>G (p.Leu24=)
c.7300A>G (p.Thr2434Ala)
c.7312A>G (p.Thr2438Ala)
c.7291A>G (p.Thr2431Ala)
c.6946A>G (p.Thr2316Ala)
c.3292A>G (p.Thr1098Ala)
c.7186A>G (p.Thr2396Ala)
c.7177A>G (p.Thr2393Ala)
c.7192A>G (p.Thr2398Ala)
c.1489A>G (p.Thr497Ala)
Xg.31774187T>GCA412659189DMDc.2161A>C (p.Thr721Pro)
c.-66A>C (n.-66A>C)
n.976A>C
n.898A>C
n.807A>C
c.7315A>C (p.Thr2439Pro)
c.3283A>C (p.Thr1095Pro)
c.304A>C (p.Thr102Pro)
c.403A>C (p.Thr135Pro)
c.7303A>C (p.Thr2435Pro)
c.72A>C (p.Leu24=)
c.7300A>C (p.Thr2434Pro)
c.7312A>C (p.Thr2438Pro)
c.7291A>C (p.Thr2431Pro)
c.6946A>C (p.Thr2316Pro)
c.3292A>C (p.Thr1098Pro)
c.7186A>C (p.Thr2396Pro)
c.7177A>C (p.Thr2393Pro)
c.7192A>C (p.Thr2398Pro)
c.1489A>C (p.Thr497Pro)
Xg.31774188A=CA2422548683DMDc.2160T= (p.Pro720=)
c.-67T= (n.-67T=)
n.975T=
n.897T=
n.806T=
c.7314T= (p.Pro2438=)
c.3282T= (p.Pro1094=)
c.303T= (p.Pro101=)
c.402T= (p.Pro134=)
c.7302T= (p.Pro2434=)
c.71T= (p.Leu24=)
c.7299T= (p.Pro2433=)
c.7311T= (p.Pro2437=)
c.7290T= (p.Pro2430=)
c.6945T= (p.Pro2315=)
c.3291T= (p.Pro1097=)
c.7185T= (p.Pro2395=)
c.7176T= (p.Pro2392=)
c.7191T= (p.Pro2397=)
c.1488T= (p.Pro496=)
Xg.31774188A>CCA515859440DMDc.2160T>G (p.Pro720=)
c.-67T>G (n.-67T>G)
n.975T>G
n.897T>G
n.806T>G
c.7314T>G (p.Pro2438=)
c.3282T>G (p.Pro1094=)
c.303T>G (p.Pro101=)
c.402T>G (p.Pro134=)
c.7302T>G (p.Pro2434=)
c.71T>G (p.Leu24Arg)
c.7299T>G (p.Pro2433=)
c.7311T>G (p.Pro2437=)
c.7290T>G (p.Pro2430=)
c.6945T>G (p.Pro2315=)
c.3291T>G (p.Pro1097=)
c.7185T>G (p.Pro2395=)
c.7176T>G (p.Pro2392=)
c.7191T>G (p.Pro2397=)
c.1488T>G (p.Pro496=)
 ClinVar dbSNP
Xg.31774188A>GCA515859441DMDc.2160T>C (p.Pro720=)
c.-67T>C (n.-67T>C)
n.975T>C
n.897T>C
n.806T>C
c.7314T>C (p.Pro2438=)
c.3282T>C (p.Pro1094=)
c.303T>C (p.Pro101=)
c.402T>C (p.Pro134=)
c.7302T>C (p.Pro2434=)
c.71T>C (p.Leu24Pro)
c.7299T>C (p.Pro2433=)
c.7311T>C (p.Pro2437=)
c.7290T>C (p.Pro2430=)
c.6945T>C (p.Pro2315=)
c.3291T>C (p.Pro1097=)
c.7185T>C (p.Pro2395=)
c.7176T>C (p.Pro2392=)
c.7191T>C (p.Pro2397=)
c.1488T>C (p.Pro496=)
 dbSNP gnomAD v3 gnomAD v4
Xg.31774188A>TCA515859442DMDc.2160T>A (p.Pro720=)
c.-67T>A (n.-67T>A)
n.975T>A
n.897T>A
n.806T>A
c.7314T>A (p.Pro2438=)
c.3282T>A (p.Pro1094=)
c.303T>A (p.Pro101=)
c.402T>A (p.Pro134=)
c.7302T>A (p.Pro2434=)
c.71T>A (p.Leu24Gln)
c.7299T>A (p.Pro2433=)
c.7311T>A (p.Pro2437=)
c.7290T>A (p.Pro2430=)
c.6945T>A (p.Pro2315=)
c.3291T>A (p.Pro1097=)
c.7185T>A (p.Pro2395=)
c.7176T>A (p.Pro2392=)
c.7191T>A (p.Pro2397=)
c.1488T>A (p.Pro496=)
Xg.31774189G>ACA412659192DMDc.2159C>T (p.Pro720Leu)
c.-68C>T (n.-68C>T)
n.974C>T
n.896C>T
n.805C>T
c.7313C>T (p.Pro2438Leu)
c.3281C>T (p.Pro1094Leu)
c.302C>T (p.Pro101Leu)
c.401C>T (p.Pro134Leu)
c.7301C>T (p.Pro2434Leu)
c.70C>T (p.Leu24=)
c.7298C>T (p.Pro2433Leu)
c.7310C>T (p.Pro2437Leu)
c.7289C>T (p.Pro2430Leu)
c.6944C>T (p.Pro2315Leu)
c.3290C>T (p.Pro1097Leu)
c.7184C>T (p.Pro2395Leu)
c.7175C>T (p.Pro2392Leu)
c.7190C>T (p.Pro2397Leu)
c.1487C>T (p.Pro496Leu)
Xg.31774189G>CCA412659193DMDc.2159C>G (p.Pro720Arg)
c.-68C>G (n.-68C>G)
n.974C>G
n.896C>G
n.805C>G
c.7313C>G (p.Pro2438Arg)
c.3281C>G (p.Pro1094Arg)
c.302C>G (p.Pro101Arg)
c.401C>G (p.Pro134Arg)
c.7301C>G (p.Pro2434Arg)
c.70C>G (p.Leu24Val)
c.7298C>G (p.Pro2433Arg)
c.7310C>G (p.Pro2437Arg)
c.7289C>G (p.Pro2430Arg)
c.6944C>G (p.Pro2315Arg)
c.3290C>G (p.Pro1097Arg)
c.7184C>G (p.Pro2395Arg)
c.7175C>G (p.Pro2392Arg)
c.7190C>G (p.Pro2397Arg)
c.1487C>G (p.Pro496Arg)
Xg.31774189G>TCA412659194DMDc.2159C>A (p.Pro720His)
c.-68C>A (n.-68C>A)
n.974C>A
n.896C>A
n.805C>A
c.7313C>A (p.Pro2438His)
c.3281C>A (p.Pro1094His)
c.302C>A (p.Pro101His)
c.401C>A (p.Pro134His)
c.7301C>A (p.Pro2434His)
c.70C>A (p.Leu24Ile)
c.7298C>A (p.Pro2433His)
c.7310C>A (p.Pro2437His)
c.7289C>A (p.Pro2430His)
c.6944C>A (p.Pro2315His)
c.3290C>A (p.Pro1097His)
c.7184C>A (p.Pro2395His)
c.7175C>A (p.Pro2392His)
c.7190C>A (p.Pro2397His)
c.1487C>A (p.Pro496His)
Xg.31774190G>ACA412659195DMDc.2158C>T (p.Pro720Ser)
c.-69C>T (n.-69C>T)
n.973C>T
n.895C>T
n.804C>T
c.7312C>T (p.Pro2438Ser)
c.3280C>T (p.Pro1094Ser)
c.301C>T (p.Pro101Ser)
c.400C>T (p.Pro134Ser)
c.7300C>T (p.Pro2434Ser)
c.69C>T (p.Leu23=)
c.7297C>T (p.Pro2433Ser)
c.7309C>T (p.Pro2437Ser)
c.7288C>T (p.Pro2430Ser)
c.6943C>T (p.Pro2315Ser)
c.3289C>T (p.Pro1097Ser)
c.7183C>T (p.Pro2395Ser)
c.7174C>T (p.Pro2392Ser)
c.7189C>T (p.Pro2397Ser)
c.1486C>T (p.Pro496Ser)
Xg.31774190G>CCA412659196DMDc.2158C>G (p.Pro720Ala)
c.-69C>G (n.-69C>G)
n.973C>G
n.895C>G
n.804C>G
c.7312C>G (p.Pro2438Ala)
c.3280C>G (p.Pro1094Ala)
c.301C>G (p.Pro101Ala)
c.400C>G (p.Pro134Ala)
c.7300C>G (p.Pro2434Ala)
c.69C>G (p.Leu23=)
c.7297C>G (p.Pro2433Ala)
c.7309C>G (p.Pro2437Ala)
c.7288C>G (p.Pro2430Ala)
c.6943C>G (p.Pro2315Ala)
c.3289C>G (p.Pro1097Ala)
c.7183C>G (p.Pro2395Ala)
c.7174C>G (p.Pro2392Ala)
c.7189C>G (p.Pro2397Ala)
c.1486C>G (p.Pro496Ala)
 gnomAD v4
Xg.31774190G>TCA412659197DMDc.2158C>A (p.Pro720Thr)
c.-69C>A (n.-69C>A)
n.973C>A
n.895C>A
n.804C>A
c.7312C>A (p.Pro2438Thr)
c.3280C>A (p.Pro1094Thr)
c.301C>A (p.Pro101Thr)
c.400C>A (p.Pro134Thr)
c.7300C>A (p.Pro2434Thr)
c.69C>A (p.Leu23=)
c.7297C>A (p.Pro2433Thr)
c.7309C>A (p.Pro2437Thr)
c.7288C>A (p.Pro2430Thr)
c.6943C>A (p.Pro2315Thr)
c.3289C>A (p.Pro1097Thr)
c.7183C>A (p.Pro2395Thr)
c.7174C>A (p.Pro2392Thr)
c.7189C>A (p.Pro2397Thr)
c.1486C>A (p.Pro496Thr)
Xg.31774191A>CCA515859443DMDc.2157T>G (p.Ser719=)
c.-70T>G (n.-70T>G)
n.972T>G
n.894T>G
n.803T>G
c.7311T>G (p.Ser2437=)
c.3279T>G (p.Ser1093=)
c.300T>G (p.Ser100=)
c.399T>G (p.Ser133=)
c.7299T>G (p.Ser2433=)
c.68T>G (p.Leu23Arg)
c.7296T>G (p.Ser2432=)
c.7308T>G (p.Ser2436=)
c.7287T>G (p.Ser2429=)
c.6942T>G (p.Ser2314=)
c.3288T>G (p.Ser1096=)
c.7182T>G (p.Ser2394=)
c.7173T>G (p.Ser2391=)
c.7188T>G (p.Ser2396=)
c.1485T>G (p.Ser495=)
Xg.31774191A>GCA515859444DMDc.2157T>C (p.Ser719=)
c.-70T>C (n.-70T>C)
n.972T>C
n.894T>C
n.803T>C
c.7311T>C (p.Ser2437=)
c.3279T>C (p.Ser1093=)
c.300T>C (p.Ser100=)
c.399T>C (p.Ser133=)
c.7299T>C (p.Ser2433=)
c.68T>C (p.Leu23Pro)
c.7296T>C (p.Ser2432=)
c.7308T>C (p.Ser2436=)
c.7287T>C (p.Ser2429=)
c.6942T>C (p.Ser2314=)
c.3288T>C (p.Ser1096=)
c.7182T>C (p.Ser2394=)
c.7173T>C (p.Ser2391=)
c.7188T>C (p.Ser2396=)
c.1485T>C (p.Ser495=)
 gnomAD v4
Xg.31774191A>TCA515859445DMDc.2157T>A (p.Ser719=)
c.-70T>A (n.-70T>A)
n.972T>A
n.894T>A
n.803T>A
c.7311T>A (p.Ser2437=)
c.3279T>A (p.Ser1093=)
c.300T>A (p.Ser100=)
c.399T>A (p.Ser133=)
c.7299T>A (p.Ser2433=)
c.68T>A (p.Leu23His)
c.7296T>A (p.Ser2432=)
c.7308T>A (p.Ser2436=)
c.7287T>A (p.Ser2429=)
c.6942T>A (p.Ser2314=)
c.3288T>A (p.Ser1096=)
c.7182T>A (p.Ser2394=)
c.7173T>A (p.Ser2391=)
c.7188T>A (p.Ser2396=)
c.1485T>A (p.Ser495=)
Xg.31774192G>ACA412659198DMDc.2156C>T (p.Ser719Phe)
c.-71C>T (n.-71C>T)
n.971C>T
n.893C>T
n.802C>T
c.7310C>T (p.Ser2437Phe)
c.3278C>T (p.Ser1093Phe)
c.299C>T (p.Ser100Phe)
c.398C>T (p.Ser133Phe)
c.7298C>T (p.Ser2433Phe)
c.67C>T (p.Leu23Phe)
c.7295C>T (p.Ser2432Phe)
c.7307C>T (p.Ser2436Phe)
c.7286C>T (p.Ser2429Phe)
c.6941C>T (p.Ser2314Phe)
c.3287C>T (p.Ser1096Phe)
c.7181C>T (p.Ser2394Phe)
c.7172C>T (p.Ser2391Phe)
c.7187C>T (p.Ser2396Phe)
c.1484C>T (p.Ser495Phe)
Xg.31774192G>CCA412659199DMDc.2156C>G (p.Ser719Cys)
c.-71C>G (n.-71C>G)
n.971C>G
n.893C>G
n.802C>G
c.7310C>G (p.Ser2437Cys)
c.3278C>G (p.Ser1093Cys)
c.299C>G (p.Ser100Cys)
c.398C>G (p.Ser133Cys)
c.7298C>G (p.Ser2433Cys)
c.67C>G (p.Leu23Val)
c.7295C>G (p.Ser2432Cys)
c.7307C>G (p.Ser2436Cys)
c.7286C>G (p.Ser2429Cys)
c.6941C>G (p.Ser2314Cys)
c.3287C>G (p.Ser1096Cys)
c.7181C>G (p.Ser2394Cys)
c.7172C>G (p.Ser2391Cys)
c.7187C>G (p.Ser2396Cys)
c.1484C>G (p.Ser495Cys)
Xg.31774192G>TCA412659200DMDc.2156C>A (p.Ser719Tyr)
c.-71C>A (n.-71C>A)
n.971C>A
n.893C>A
n.802C>A
c.7310C>A (p.Ser2437Tyr)
c.3278C>A (p.Ser1093Tyr)
c.299C>A (p.Ser100Tyr)
c.398C>A (p.Ser133Tyr)
c.7298C>A (p.Ser2433Tyr)
c.67C>A (p.Leu23Ile)
c.7295C>A (p.Ser2432Tyr)
c.7307C>A (p.Ser2436Tyr)
c.7286C>A (p.Ser2429Tyr)
c.6941C>A (p.Ser2314Tyr)
c.3287C>A (p.Ser1096Tyr)
c.7181C>A (p.Ser2394Tyr)
c.7172C>A (p.Ser2391Tyr)
c.7187C>A (p.Ser2396Tyr)
c.1484C>A (p.Ser495Tyr)
Xg.31774193C>ACA412659201DMDc.2156-1G>T (n.2156-1G>T)
c.-71-1G>T (n.-71-1G>T)
n.971-1G>T
n.893-1G>T
n.802-1G>T
c.7310-1G>T (n.7310-1G>T)
c.3278-1G>T (n.3278-1G>T)
c.299-1G>T (n.299-1G>T)
c.398-1G>T (n.398-1G>T)
c.7298-1G>T (n.7298-1G>T)
c.67-1G>T (n.67-1G>T)
c.7295-1G>T (n.7295-1G>T)
c.7307-1G>T (n.7307-1G>T)
c.7286-1G>T (n.7286-1G>T)
c.6941-1G>T (n.6941-1G>T)
c.3287-1G>T (n.3287-1G>T)
c.7181-1G>T (n.7181-1G>T)
c.7172-1G>T (n.7172-1G>T)
c.7187-1G>T (n.7187-1G>T)
c.1484-1G>T (n.1484-1G>T)
Xg.31774193C=CA2422548684DMDc.2156-1G= (n.2156-1G=)
c.-71-1G= (n.-71-1G=)
n.971-1G=
n.893-1G=
n.802-1G=
c.7310-1G= (n.7310-1G=)
c.3278-1G= (n.3278-1G=)
c.299-1G= (n.299-1G=)
c.398-1G= (n.398-1G=)
c.7298-1G= (n.7298-1G=)
c.67-1G= (n.67-1G=)
c.7295-1G= (n.7295-1G=)
c.7307-1G= (n.7307-1G=)
c.7286-1G= (n.7286-1G=)
c.6941-1G= (n.6941-1G=)
c.3287-1G= (n.3287-1G=)
c.7181-1G= (n.7181-1G=)
c.7172-1G= (n.7172-1G=)
c.7187-1G= (n.7187-1G=)
c.1484-1G= (n.1484-1G=)
Xg.31774193C>GCA412659202DMDc.2156-1G>C (n.2156-1G>C)
c.-71-1G>C (n.-71-1G>C)
n.971-1G>C
n.893-1G>C
n.802-1G>C
c.7310-1G>C (n.7310-1G>C)
c.3278-1G>C (n.3278-1G>C)
c.299-1G>C (n.299-1G>C)
c.398-1G>C (n.398-1G>C)
c.7298-1G>C (n.7298-1G>C)
c.67-1G>C (n.67-1G>C)
c.7295-1G>C (n.7295-1G>C)
c.7307-1G>C (n.7307-1G>C)
c.7286-1G>C (n.7286-1G>C)
c.6941-1G>C (n.6941-1G>C)
c.3287-1G>C (n.3287-1G>C)
c.7181-1G>C (n.7181-1G>C)
c.7172-1G>C (n.7172-1G>C)
c.7187-1G>C (n.7187-1G>C)
c.1484-1G>C (n.1484-1G>C)
Xg.31774193C>TCA412659203DMDc.2156-1G>A (n.2156-1G>A)
c.-71-1G>A (n.-71-1G>A)
n.971-1G>A
n.893-1G>A
n.802-1G>A
c.7310-1G>A (n.7310-1G>A)
c.3278-1G>A (n.3278-1G>A)
c.299-1G>A (n.299-1G>A)
c.398-1G>A (n.398-1G>A)
c.7298-1G>A (n.7298-1G>A)
c.67-1G>A (n.67-1G>A)
c.7295-1G>A (n.7295-1G>A)
c.7307-1G>A (n.7307-1G>A)
c.7286-1G>A (n.7286-1G>A)
c.6941-1G>A (n.6941-1G>A)
c.3287-1G>A (n.3287-1G>A)
c.7181-1G>A (n.7181-1G>A)
c.7172-1G>A (n.7172-1G>A)
c.7187-1G>A (n.7187-1G>A)
c.1484-1G>A (n.1484-1G>A)
 ClinVar dbSNP
Xg.31774194T>ACA412659206DMDc.2156-2A>T (n.2156-2A>T)
c.-71-2A>T (n.-71-2A>T)
n.971-2A>T
n.893-2A>T
n.802-2A>T
c.7310-2A>T (n.7310-2A>T)
c.3278-2A>T (n.3278-2A>T)
c.299-2A>T (n.299-2A>T)
c.398-2A>T (n.398-2A>T)
c.7298-2A>T (n.7298-2A>T)
c.67-2A>T (n.67-2A>T)
c.7295-2A>T (n.7295-2A>T)
c.7307-2A>T (n.7307-2A>T)
c.7286-2A>T (n.7286-2A>T)
c.6941-2A>T (n.6941-2A>T)
c.3287-2A>T (n.3287-2A>T)
c.7181-2A>T (n.7181-2A>T)
c.7172-2A>T (n.7172-2A>T)
c.7187-2A>T (n.7187-2A>T)
c.1484-2A>T (n.1484-2A>T)
Xg.31774194T>CCA412659205DMDc.2156-2A>G (n.2156-2A>G)
c.-71-2A>G (n.-71-2A>G)
n.971-2A>G
n.893-2A>G
n.802-2A>G
c.7310-2A>G (n.7310-2A>G)
c.3278-2A>G (n.3278-2A>G)
c.299-2A>G (n.299-2A>G)
c.398-2A>G (n.398-2A>G)
c.7298-2A>G (n.7298-2A>G)
c.67-2A>G (n.67-2A>G)
c.7295-2A>G (n.7295-2A>G)
c.7307-2A>G (n.7307-2A>G)
c.7286-2A>G (n.7286-2A>G)
c.6941-2A>G (n.6941-2A>G)
c.3287-2A>G (n.3287-2A>G)
c.7181-2A>G (n.7181-2A>G)
c.7172-2A>G (n.7172-2A>G)
c.7187-2A>G (n.7187-2A>G)
c.1484-2A>G (n.1484-2A>G)
 ClinVar
Xg.31774194T>GCA412659204DMDc.2156-2A>C (n.2156-2A>C)
c.-71-2A>C (n.-71-2A>C)
n.971-2A>C
n.893-2A>C
n.802-2A>C
c.7310-2A>C (n.7310-2A>C)
c.3278-2A>C (n.3278-2A>C)
c.299-2A>C (n.299-2A>C)
c.398-2A>C (n.398-2A>C)
c.7298-2A>C (n.7298-2A>C)
c.67-2A>C (n.67-2A>C)
c.7295-2A>C (n.7295-2A>C)
c.7307-2A>C (n.7307-2A>C)
c.7286-2A>C (n.7286-2A>C)
c.6941-2A>C (n.6941-2A>C)
c.3287-2A>C (n.3287-2A>C)
c.7181-2A>C (n.7181-2A>C)
c.7172-2A>C (n.7172-2A>C)
c.7187-2A>C (n.7187-2A>C)
c.1484-2A>C (n.1484-2A>C)
Xg.31774195A>GCA2693390352DMDc.2156-3T>C (n.2156-3T>C)
c.-71-3T>C (n.-71-3T>C)
n.971-3T>C
n.893-3T>C
n.802-3T>C
c.7310-3T>C (n.7310-3T>C)
c.3278-3T>C (n.3278-3T>C)
c.299-3T>C (n.299-3T>C)
c.398-3T>C (n.398-3T>C)
c.7298-3T>C (n.7298-3T>C)
c.67-3T>C (n.67-3T>C)
c.7295-3T>C (n.7295-3T>C)
c.7307-3T>C (n.7307-3T>C)
c.7286-3T>C (n.7286-3T>C)
c.6941-3T>C (n.6941-3T>C)
c.3287-3T>C (n.3287-3T>C)
c.7181-3T>C (n.7181-3T>C)
c.7172-3T>C (n.7172-3T>C)
c.7187-3T>C (n.7187-3T>C)
c.1484-3T>C (n.1484-3T>C)
 gnomAD v4
Xg.31774198delCA2579579136DMDc.2156-3del (n.2156-3del)
c.-71-3del (n.-71-3del)
n.971-3del
n.893-3del
n.802-3del
c.7310-3del (n.7310-3del)
c.3278-3del (n.3278-3del)
c.299-3del (n.299-3del)
c.398-3del (n.398-3del)
c.7298-3del (n.7298-3del)
c.67-3del (n.67-3del)
c.7295-3del (n.7295-3del)
c.7307-3del (n.7307-3del)
c.7286-3del (n.7286-3del)
c.6941-3del (n.6941-3del)
c.3287-3del (n.3287-3del)
c.7181-3del (n.7181-3del)
c.7172-3del (n.7172-3del)
c.7187-3del (n.7187-3del)
c.1484-3del (n.1484-3del)
Xg.31774196A>CCA2739268134DMDc.2156-4T>G (n.2156-4T>G)
c.-71-4T>G (n.-71-4T>G)
n.971-4T>G
n.893-4T>G
n.802-4T>G
c.7310-4T>G (n.7310-4T>G)
c.3278-4T>G (n.3278-4T>G)
c.299-4T>G (n.299-4T>G)
c.398-4T>G (n.398-4T>G)
c.7298-4T>G (n.7298-4T>G)
c.67-4T>G (n.67-4T>G)
c.7295-4T>G (n.7295-4T>G)
c.7307-4T>G (n.7307-4T>G)
c.7286-4T>G (n.7286-4T>G)
c.6941-4T>G (n.6941-4T>G)
c.3287-4T>G (n.3287-4T>G)
c.7181-4T>G (n.7181-4T>G)
c.7172-4T>G (n.7172-4T>G)
c.7187-4T>G (n.7187-4T>G)
c.1484-4T>G (n.1484-4T>G)
 ClinVar
Xg.31774197A=CA2422548685DMDc.2156-5T= (n.2156-5T=)
c.-71-5T= (n.-71-5T=)
n.971-5T=
n.893-5T=
n.802-5T=
c.7310-5T= (n.7310-5T=)
c.3278-5T= (n.3278-5T=)
c.299-5T= (n.299-5T=)
c.398-5T= (n.398-5T=)
c.7298-5T= (n.7298-5T=)
c.67-5T= (n.67-5T=)
c.7295-5T= (n.7295-5T=)
c.7307-5T= (n.7307-5T=)
c.7286-5T= (n.7286-5T=)
c.6941-5T= (n.6941-5T=)
c.3287-5T= (n.3287-5T=)
c.7181-5T= (n.7181-5T=)
c.7172-5T= (n.7172-5T=)
c.7187-5T= (n.7187-5T=)
c.1484-5T= (n.1484-5T=)
Xg.31774197A>CCA916081253DMDc.2156-5T>G (n.2156-5T>G)
c.-71-5T>G (n.-71-5T>G)
n.971-5T>G
n.893-5T>G
n.802-5T>G
c.7310-5T>G (n.7310-5T>G)
c.3278-5T>G (n.3278-5T>G)
c.299-5T>G (n.299-5T>G)
c.398-5T>G (n.398-5T>G)
c.7298-5T>G (n.7298-5T>G)
c.67-5T>G (n.67-5T>G)
c.7295-5T>G (n.7295-5T>G)
c.7307-5T>G (n.7307-5T>G)
c.7286-5T>G (n.7286-5T>G)
c.6941-5T>G (n.6941-5T>G)
c.3287-5T>G (n.3287-5T>G)
c.7181-5T>G (n.7181-5T>G)
c.7172-5T>G (n.7172-5T>G)
c.7187-5T>G (n.7187-5T>G)
c.1484-5T>G (n.1484-5T>G)
 ClinVar dbSNP gnomAD v4
Xg.31774199T>CCA10378290DMDc.2156-7A>G (n.2156-7A>G)
c.-71-7A>G (n.-71-7A>G)
n.971-7A>G
n.893-7A>G
n.802-7A>G
c.7310-7A>G (n.7310-7A>G)
c.3278-7A>G (n.3278-7A>G)
c.299-7A>G (n.299-7A>G)
c.398-7A>G (n.398-7A>G)
c.7298-7A>G (n.7298-7A>G)
c.67-7A>G (n.67-7A>G)
c.7295-7A>G (n.7295-7A>G)
c.7307-7A>G (n.7307-7A>G)
c.7286-7A>G (n.7286-7A>G)
c.6941-7A>G (n.6941-7A>G)
c.3287-7A>G (n.3287-7A>G)
c.7181-7A>G (n.7181-7A>G)
c.7172-7A>G (n.7172-7A>G)
c.7187-7A>G (n.7187-7A>G)
c.1484-7A>G (n.1484-7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.31774199T=CA2422548686DMDc.2156-7A= (n.2156-7A=)
c.-71-7A= (n.-71-7A=)
n.971-7A=
n.893-7A=
n.802-7A=
c.7310-7A= (n.7310-7A=)
c.3278-7A= (n.3278-7A=)
c.299-7A= (n.299-7A=)
c.398-7A= (n.398-7A=)
c.7298-7A= (n.7298-7A=)
c.67-7A= (n.67-7A=)
c.7295-7A= (n.7295-7A=)
c.7307-7A= (n.7307-7A=)
c.7286-7A= (n.7286-7A=)
c.6941-7A= (n.6941-7A=)
c.3287-7A= (n.3287-7A=)
c.7181-7A= (n.7181-7A=)
c.7172-7A= (n.7172-7A=)
c.7187-7A= (n.7187-7A=)
c.1484-7A= (n.1484-7A=)
Xg.31774200A>TCA2697552933DMDc.2156-8T>A (n.2156-8T>A)
c.-71-8T>A (n.-71-8T>A)
n.971-8T>A
n.893-8T>A
n.802-8T>A
c.7310-8T>A (n.7310-8T>A)
c.3278-8T>A (n.3278-8T>A)
c.299-8T>A (n.299-8T>A)
c.398-8T>A (n.398-8T>A)
c.7298-8T>A (n.7298-8T>A)
c.67-8T>A (n.67-8T>A)
c.7295-8T>A (n.7295-8T>A)
c.7307-8T>A (n.7307-8T>A)
c.7286-8T>A (n.7286-8T>A)
c.6941-8T>A (n.6941-8T>A)
c.3287-8T>A (n.3287-8T>A)
c.7181-8T>A (n.7181-8T>A)
c.7172-8T>A (n.7172-8T>A)
c.7187-8T>A (n.7187-8T>A)
c.1484-8T>A (n.1484-8T>A)
 ClinVar
Xg.31774204delCA2579579138DMDc.2156-9del (n.2156-9del)
c.-71-9del (n.-71-9del)
n.971-9del
n.893-9del
n.802-9del
c.7310-9del (n.7310-9del)
c.3278-9del (n.3278-9del)
c.299-9del (n.299-9del)
c.398-9del (n.398-9del)
c.7298-9del (n.7298-9del)
c.67-9del (n.67-9del)
c.7295-9del (n.7295-9del)
c.7307-9del (n.7307-9del)
c.7286-9del (n.7286-9del)
c.6941-9del (n.6941-9del)
c.3287-9del (n.3287-9del)
c.7181-9del (n.7181-9del)
c.7172-9del (n.7172-9del)
c.7187-9del (n.7187-9del)
c.1484-9del (n.1484-9del)
Xg.31774204T>CCA874637892DMDc.2156-12A>G (n.2156-12A>G)
c.-71-12A>G (n.-71-12A>G)
n.971-12A>G
n.893-12A>G
n.802-12A>G
c.7310-12A>G (n.7310-12A>G)
c.3278-12A>G (n.3278-12A>G)
c.299-12A>G (n.299-12A>G)
c.398-12A>G (n.398-12A>G)
c.7298-12A>G (n.7298-12A>G)
c.67-12A>G (n.67-12A>G)
c.7295-12A>G (n.7295-12A>G)
c.7307-12A>G (n.7307-12A>G)
c.7286-12A>G (n.7286-12A>G)
c.6941-12A>G (n.6941-12A>G)
c.3287-12A>G (n.3287-12A>G)
c.7181-12A>G (n.7181-12A>G)
c.7172-12A>G (n.7172-12A>G)
c.7187-12A>G (n.7187-12A>G)
c.1484-12A>G (n.1484-12A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.31774204T=CA2422548687DMDc.2156-12A= (n.2156-12A=)
c.-71-12A= (n.-71-12A=)
n.971-12A=
n.893-12A=
n.802-12A=
c.7310-12A= (n.7310-12A=)
c.3278-12A= (n.3278-12A=)
c.299-12A= (n.299-12A=)
c.398-12A= (n.398-12A=)
c.7298-12A= (n.7298-12A=)
c.67-12A= (n.67-12A=)
c.7295-12A= (n.7295-12A=)
c.7307-12A= (n.7307-12A=)
c.7286-12A= (n.7286-12A=)
c.6941-12A= (n.6941-12A=)
c.3287-12A= (n.3287-12A=)
c.7181-12A= (n.7181-12A=)
c.7172-12A= (n.7172-12A=)
c.7187-12A= (n.7187-12A=)
c.1484-12A= (n.1484-12A=)
Xg.31774204_31774214delCA1132108716DMDc.2156-22_2156-12del (n.2156-22_2156-12del)
c.-71-22_-71-12del (n.-71-22_-71-12del)
n.971-22_971-12del
n.893-22_893-12del
n.802-22_802-12del
c.7310-22_7310-12del (n.7310-22_7310-12del)
c.3278-22_3278-12del (n.3278-22_3278-12del)
c.299-22_299-12del (n.299-22_299-12del)
c.398-22_398-12del (n.398-22_398-12del)
c.7298-22_7298-12del (n.7298-22_7298-12del)
c.67-22_67-12del (n.67-22_67-12del)
c.7295-22_7295-12del (n.7295-22_7295-12del)
c.7307-22_7307-12del (n.7307-22_7307-12del)
c.7286-22_7286-12del (n.7286-22_7286-12del)
c.6941-22_6941-12del (n.6941-22_6941-12del)
c.3287-22_3287-12del (n.3287-22_3287-12del)
c.7181-22_7181-12del (n.7181-22_7181-12del)
c.7172-22_7172-12del (n.7172-22_7172-12del)
c.7187-22_7187-12del (n.7187-22_7187-12del)
c.1484-22_1484-12del (n.1484-22_1484-12del)

Number of alleles fetched