Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32454666_32454670delCA2697552971DMDn.3804_3808del
c.3597_3601del (p.Met1200GlufsTer3)
c.3585_3589del (p.Met1196GlufsTer3)
c.94-89469_94-89465del (n.94-89469_94-89465del)
c.94-89958_94-89954del (n.94-89958_94-89954del)
n.336-237605_336-237601del
c.3573_3577del (p.Met1192GlufsTer3)
c.3228_3232del (p.Met1077GlufsTer3)
c.3468_3472del (p.Met1157GlufsTer3)
 ClinVar
Xg.32454670C>ACA412662854DMDn.3802G>T
c.3595G>T (p.Glu1199Ter)
c.3583G>T (p.Glu1195Ter)
c.94-89471G>T (n.94-89471G>T)
c.94-89960G>T (n.94-89960G>T)
n.336-237607G>T
c.3571G>T (p.Glu1191Ter)
c.3226G>T (p.Glu1076Ter)
c.3466G>T (p.Glu1156Ter)
 gnomAD v4
Xg.32454670C>GCA412662855DMDn.3802G>C
c.3595G>C (p.Glu1199Gln)
c.3583G>C (p.Glu1195Gln)
c.94-89471G>C (n.94-89471G>C)
c.94-89960G>C (n.94-89960G>C)
n.336-237607G>C
c.3571G>C (p.Glu1191Gln)
c.3226G>C (p.Glu1076Gln)
c.3466G>C (p.Glu1156Gln)
 gnomAD v4
Xg.32454670C>TCA412662856DMDn.3802G>A
c.3595G>A (p.Glu1199Lys)
c.3583G>A (p.Glu1195Lys)
c.94-89471G>A (n.94-89471G>A)
c.94-89960G>A (n.94-89960G>A)
n.336-237607G>A
c.3571G>A (p.Glu1191Lys)
c.3226G>A (p.Glu1076Lys)
c.3466G>A (p.Glu1156Lys)
 gnomAD v3 gnomAD v4
Xg.32454671T>ACA412662857DMDn.3801A>T
c.3594A>T (p.Glu1198Asp)
c.3582A>T (p.Glu1194Asp)
c.94-89472A>T (n.94-89472A>T)
c.94-89961A>T (n.94-89961A>T)
n.336-237608A>T
c.3570A>T (p.Glu1190Asp)
c.3225A>T (p.Glu1075Asp)
c.3465A>T (p.Glu1155Asp)
Xg.32454671T>CCA515715229DMDn.3801A>G
c.3594A>G (p.Glu1198=)
c.3582A>G (p.Glu1194=)
c.94-89472A>G (n.94-89472A>G)
c.94-89961A>G (n.94-89961A>G)
n.336-237608A>G
c.3570A>G (p.Glu1190=)
c.3225A>G (p.Glu1075=)
c.3465A>G (p.Glu1155=)
 gnomAD v4
Xg.32454671T>GCA412662858DMDn.3801A>C
c.3594A>C (p.Glu1198Asp)
c.3582A>C (p.Glu1194Asp)
c.94-89472A>C (n.94-89472A>C)
c.94-89961A>C (n.94-89961A>C)
n.336-237608A>C
c.3570A>C (p.Glu1190Asp)
c.3225A>C (p.Glu1075Asp)
c.3465A>C (p.Glu1155Asp)
Xg.32454672delCA2579579881DMDn.3801del
c.3594del (p.Glu1199ArgfsTer2)
c.3582del (p.Glu1195ArgfsTer2)
c.94-89472del (n.94-89472del)
c.94-89961del (n.94-89961del)
n.336-237608del
c.3570del (p.Glu1191ArgfsTer2)
c.3225del (p.Glu1076ArgfsTer2)
c.3465del (p.Glu1156ArgfsTer2)
Xg.32454672T>ACA412662859DMDn.3800A>T
c.3593A>T (p.Glu1198Val)
c.3581A>T (p.Glu1194Val)
c.94-89473A>T (n.94-89473A>T)
c.94-89962A>T (n.94-89962A>T)
n.336-237609A>T
c.3569A>T (p.Glu1190Val)
c.3224A>T (p.Glu1075Val)
c.3464A>T (p.Glu1155Val)
Xg.32454672T>CCA412662860DMDn.3800A>G
c.3593A>G (p.Glu1198Gly)
c.3581A>G (p.Glu1194Gly)
c.94-89473A>G (n.94-89473A>G)
c.94-89962A>G (n.94-89962A>G)
n.336-237609A>G
c.3569A>G (p.Glu1190Gly)
c.3224A>G (p.Glu1075Gly)
c.3464A>G (p.Glu1155Gly)
Xg.32454672T>GCA412662861DMDn.3800A>C
c.3593A>C (p.Glu1198Ala)
c.3581A>C (p.Glu1194Ala)
c.94-89473A>C (n.94-89473A>C)
c.94-89962A>C (n.94-89962A>C)
n.336-237609A>C
c.3569A>C (p.Glu1190Ala)
c.3224A>C (p.Glu1075Ala)
c.3464A>C (p.Glu1155Ala)
Xg.32454673C>ACA412662862DMDn.3799G>T
c.3592G>T (p.Glu1198Ter)
c.3580G>T (p.Glu1194Ter)
c.94-89474G>T (n.94-89474G>T)
c.94-89963G>T (n.94-89963G>T)
n.336-237610G>T
c.3568G>T (p.Glu1190Ter)
c.3223G>T (p.Glu1075Ter)
c.3463G>T (p.Glu1155Ter)
 dbSNP gnomAD v4
Xg.32454673C=CA2422811187DMDn.3799G=
c.3592G= (p.Glu1198=)
c.3580G= (p.Glu1194=)
c.94-89474G= (n.94-89474G=)
c.94-89963G= (n.94-89963G=)
n.336-237610G=
c.3568G= (p.Glu1190=)
c.3223G= (p.Glu1075=)
c.3463G= (p.Glu1155=)
Xg.32454673C>GCA412662863DMDn.3799G>C
c.3592G>C (p.Glu1198Gln)
c.3580G>C (p.Glu1194Gln)
c.94-89474G>C (n.94-89474G>C)
c.94-89963G>C (n.94-89963G>C)
n.336-237610G>C
c.3568G>C (p.Glu1190Gln)
c.3223G>C (p.Glu1075Gln)
c.3463G>C (p.Glu1155Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454673C>TCA10379239DMDn.3799G>A
c.3592G>A (p.Glu1198Lys)
c.3580G>A (p.Glu1194Lys)
c.94-89474G>A (n.94-89474G>A)
c.94-89963G>A (n.94-89963G>A)
n.336-237610G>A
c.3568G>A (p.Glu1190Lys)
c.3223G>A (p.Glu1075Lys)
c.3463G>A (p.Glu1155Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454673_32454676delCA2820327610DMDn.3796_3799del
c.3589_3592del (p.Val1197LysfsTer3)
c.3577_3580del (p.Val1193LysfsTer3)
c.94-89477_94-89474del (n.94-89477_94-89474del)
c.94-89966_94-89963del (n.94-89966_94-89963del)
n.336-237613_336-237610del
c.3565_3568del (p.Val1189LysfsTer3)
c.3220_3223del (p.Val1074LysfsTer3)
c.3460_3463del (p.Val1154LysfsTer3)
Xg.32454674A>CCA515715230DMDn.3798T>G
c.3591T>G (p.Val1197=)
c.3579T>G (p.Val1193=)
c.94-89475T>G (n.94-89475T>G)
c.94-89964T>G (n.94-89964T>G)
n.336-237611T>G
c.3567T>G (p.Val1189=)
c.3222T>G (p.Val1074=)
c.3462T>G (p.Val1154=)
Xg.32454674A>GCA515715231DMDn.3798T>C
c.3591T>C (p.Val1197=)
c.3579T>C (p.Val1193=)
c.94-89475T>C (n.94-89475T>C)
c.94-89964T>C (n.94-89964T>C)
n.336-237611T>C
c.3567T>C (p.Val1189=)
c.3222T>C (p.Val1074=)
c.3462T>C (p.Val1154=)
 gnomAD v4
Xg.32454674A>TCA515715232DMDn.3798T>A
c.3591T>A (p.Val1197=)
c.3579T>A (p.Val1193=)
c.94-89475T>A (n.94-89475T>A)
c.94-89964T>A (n.94-89964T>A)
n.336-237611T>A
c.3567T>A (p.Val1189=)
c.3222T>A (p.Val1074=)
c.3462T>A (p.Val1154=)
 gnomAD v3 gnomAD v4
Xg.32454675A=CA2422811188DMDn.3797T=
c.3590T= (p.Val1197=)
c.3578T= (p.Val1193=)
c.94-89476T= (n.94-89476T=)
c.94-89965T= (n.94-89965T=)
n.336-237612T=
c.3566T= (p.Val1189=)
c.3221T= (p.Val1074=)
c.3461T= (p.Val1154=)
Xg.32454675A>CCA412662864DMDn.3797T>G
c.3590T>G (p.Val1197Gly)
c.3578T>G (p.Val1193Gly)
c.94-89476T>G (n.94-89476T>G)
c.94-89965T>G (n.94-89965T>G)
n.336-237612T>G
c.3566T>G (p.Val1189Gly)
c.3221T>G (p.Val1074Gly)
c.3461T>G (p.Val1154Gly)
Xg.32454675A>GCA10379240DMDn.3797T>C
c.3590T>C (p.Val1197Ala)
c.3578T>C (p.Val1193Ala)
c.94-89476T>C (n.94-89476T>C)
c.94-89965T>C (n.94-89965T>C)
n.336-237612T>C
c.3566T>C (p.Val1189Ala)
c.3221T>C (p.Val1074Ala)
c.3461T>C (p.Val1154Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454675A>TCA412662865DMDn.3797T>A
c.3590T>A (p.Val1197Asp)
c.3578T>A (p.Val1193Asp)
c.94-89476T>A (n.94-89476T>A)
c.94-89965T>A (n.94-89965T>A)
n.336-237612T>A
c.3566T>A (p.Val1189Asp)
c.3221T>A (p.Val1074Asp)
c.3461T>A (p.Val1154Asp)
 gnomAD v3 gnomAD v4
Xg.32454676C>ACA327996937DMDn.3796G>T
c.3589G>T (p.Val1197Phe)
c.3577G>T (p.Val1193Phe)
c.94-89477G>T (n.94-89477G>T)
c.94-89966G>T (n.94-89966G>T)
n.336-237613G>T
c.3565G>T (p.Val1189Phe)
c.3220G>T (p.Val1074Phe)
c.3460G>T (p.Val1154Phe)
 dbSNP gnomAD v4
Xg.32454676C=CA2422811189DMDn.3796G=
c.3589G= (p.Val1197=)
c.3577G= (p.Val1193=)
c.94-89477G= (n.94-89477G=)
c.94-89966G= (n.94-89966G=)
n.336-237613G=
c.3565G= (p.Val1189=)
c.3220G= (p.Val1074=)
c.3460G= (p.Val1154=)
Xg.32454676C>GCA10379241DMDn.3796G>C
c.3589G>C (p.Val1197Leu)
c.3577G>C (p.Val1193Leu)
c.94-89477G>C (n.94-89477G>C)
c.94-89966G>C (n.94-89966G>C)
n.336-237613G>C
c.3565G>C (p.Val1189Leu)
c.3220G>C (p.Val1074Leu)
c.3460G>C (p.Val1154Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454676C>TCA412662866DMDn.3796G>A
c.3589G>A (p.Val1197Ile)
c.3577G>A (p.Val1193Ile)
c.94-89477G>A (n.94-89477G>A)
c.94-89966G>A (n.94-89966G>A)
n.336-237613G>A
c.3565G>A (p.Val1189Ile)
c.3220G>A (p.Val1074Ile)
c.3460G>A (p.Val1154Ile)
 gnomAD v3 gnomAD v4
Xg.32454677T>ACA515715236DMDn.3795A>T
c.3588A>T (p.Ala1196=)
c.3576A>T (p.Ala1192=)
c.94-89478A>T (n.94-89478A>T)
c.94-89967A>T (n.94-89967A>T)
n.336-237614A>T
c.3564A>T (p.Ala1188=)
c.3219A>T (p.Ala1073=)
c.3459A>T (p.Ala1153=)
Xg.32454677T>CCA515715235DMDn.3795A>G
c.3588A>G (p.Ala1196=)
c.3576A>G (p.Ala1192=)
c.94-89478A>G (n.94-89478A>G)
c.94-89967A>G (n.94-89967A>G)
n.336-237614A>G
c.3564A>G (p.Ala1188=)
c.3219A>G (p.Ala1073=)
c.3459A>G (p.Ala1153=)
 ClinVar
Xg.32454677T>GCA515715233DMDn.3795A>C
c.3588A>C (p.Ala1196=)
c.3576A>C (p.Ala1192=)
c.94-89478A>C (n.94-89478A>C)
c.94-89967A>C (n.94-89967A>C)
n.336-237614A>C
c.3564A>C (p.Ala1188=)
c.3219A>C (p.Ala1073=)
c.3459A>C (p.Ala1153=)
Xg.32454678G>ACA10379242DMDn.3794C>T
c.3587C>T (p.Ala1196Val)
c.3575C>T (p.Ala1192Val)
c.94-89479C>T (n.94-89479C>T)
c.94-89968C>T (n.94-89968C>T)
n.336-237615C>T
c.3563C>T (p.Ala1188Val)
c.3218C>T (p.Ala1073Val)
c.3458C>T (p.Ala1153Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454678G>CCA412662868DMDn.3794C>G
c.3587C>G (p.Ala1196Gly)
c.3575C>G (p.Ala1192Gly)
c.94-89479C>G (n.94-89479C>G)
c.94-89968C>G (n.94-89968C>G)
n.336-237615C>G
c.3563C>G (p.Ala1188Gly)
c.3218C>G (p.Ala1073Gly)
c.3458C>G (p.Ala1153Gly)
 gnomAD v4
Xg.32454678G=CA2422811190DMDn.3794C=
c.3587C= (p.Ala1196=)
c.3575C= (p.Ala1192=)
c.94-89479C= (n.94-89479C=)
c.94-89968C= (n.94-89968C=)
n.336-237615C=
c.3563C= (p.Ala1188=)
c.3218C= (p.Ala1073=)
c.3458C= (p.Ala1153=)
Xg.32454678G>TCA412662867DMDn.3794C>A
c.3587C>A (p.Ala1196Glu)
c.3575C>A (p.Ala1192Glu)
c.94-89479C>A (n.94-89479C>A)
c.94-89968C>A (n.94-89968C>A)
n.336-237615C>A
c.3563C>A (p.Ala1188Glu)
c.3218C>A (p.Ala1073Glu)
c.3458C>A (p.Ala1153Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.32454679C>ACA412662869DMDn.3793G>T
c.3586G>T (p.Ala1196Ser)
c.3574G>T (p.Ala1192Ser)
c.94-89480G>T (n.94-89480G>T)
c.94-89969G>T (n.94-89969G>T)
n.336-237616G>T
c.3562G>T (p.Ala1188Ser)
c.3217G>T (p.Ala1073Ser)
c.3457G>T (p.Ala1153Ser)
Xg.32454679C>GCA412662871DMDn.3793G>C
c.3586G>C (p.Ala1196Pro)
c.3574G>C (p.Ala1192Pro)
c.94-89480G>C (n.94-89480G>C)
c.94-89969G>C (n.94-89969G>C)
n.336-237616G>C
c.3562G>C (p.Ala1188Pro)
c.3217G>C (p.Ala1073Pro)
c.3457G>C (p.Ala1153Pro)
Xg.32454679C>TCA412662870DMDn.3793G>A
c.3586G>A (p.Ala1196Thr)
c.3574G>A (p.Ala1192Thr)
c.94-89480G>A (n.94-89480G>A)
c.94-89969G>A (n.94-89969G>A)
n.336-237616G>A
c.3562G>A (p.Ala1188Thr)
c.3217G>A (p.Ala1073Thr)
c.3457G>A (p.Ala1153Thr)
 gnomAD v3 gnomAD v4
Xg.32454680T>ACA412662872DMDn.3792A>T
c.3585A>T (p.Lys1195Asn)
c.3573A>T (p.Lys1191Asn)
c.94-89481A>T (n.94-89481A>T)
c.94-89970A>T (n.94-89970A>T)
n.336-237617A>T
c.3561A>T (p.Lys1187Asn)
c.3216A>T (p.Lys1072Asn)
c.3456A>T (p.Lys1152Asn)
 gnomAD v4
Xg.32454680T>CCA10379243DMDn.3792A>G
c.3585A>G (p.Lys1195=)
c.3573A>G (p.Lys1191=)
c.94-89481A>G (n.94-89481A>G)
c.94-89970A>G (n.94-89970A>G)
n.336-237617A>G
c.3561A>G (p.Lys1187=)
c.3216A>G (p.Lys1072=)
c.3456A>G (p.Lys1152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454680T>GCA412662873DMDn.3792A>C
c.3585A>C (p.Lys1195Asn)
c.3573A>C (p.Lys1191Asn)
c.94-89481A>C (n.94-89481A>C)
c.94-89970A>C (n.94-89970A>C)
n.336-237617A>C
c.3561A>C (p.Lys1187Asn)
c.3216A>C (p.Lys1072Asn)
c.3456A>C (p.Lys1152Asn)
Xg.32454680T=CA2422811191DMDn.3792A=
c.3585A= (p.Lys1195=)
c.3573A= (p.Lys1191=)
c.94-89481A= (n.94-89481A=)
c.94-89970A= (n.94-89970A=)
n.336-237617A=
c.3561A= (p.Lys1187=)
c.3216A= (p.Lys1072=)
c.3456A= (p.Lys1152=)
Xg.32454681T>ACA412662874DMDn.3791A>T
c.3584A>T (p.Lys1195Ile)
c.3572A>T (p.Lys1191Ile)
c.94-89482A>T (n.94-89482A>T)
c.94-89971A>T (n.94-89971A>T)
n.336-237618A>T
c.3560A>T (p.Lys1187Ile)
c.3215A>T (p.Lys1072Ile)
c.3455A>T (p.Lys1152Ile)
Xg.32454681T>CCA412662876DMDn.3791A>G
c.3584A>G (p.Lys1195Arg)
c.3572A>G (p.Lys1191Arg)
c.94-89482A>G (n.94-89482A>G)
c.94-89971A>G (n.94-89971A>G)
n.336-237618A>G
c.3560A>G (p.Lys1187Arg)
c.3215A>G (p.Lys1072Arg)
c.3455A>G (p.Lys1152Arg)
 gnomAD v4
Xg.32454681T>GCA412662875DMDn.3791A>C
c.3584A>C (p.Lys1195Thr)
c.3572A>C (p.Lys1191Thr)
c.94-89482A>C (n.94-89482A>C)
c.94-89971A>C (n.94-89971A>C)
n.336-237618A>C
c.3560A>C (p.Lys1187Thr)
c.3215A>C (p.Lys1072Thr)
c.3455A>C (p.Lys1152Thr)
 ClinVar dbSNP
Xg.32454682_32454695delCA2505277378DMDn.3778_3791del
c.3571_3584del (p.Asp1191SerfsTer3)
c.3559_3572del (p.Asp1187SerfsTer3)
c.94-89495_94-89482del (n.94-89495_94-89482del)
c.94-89984_94-89971del (n.94-89984_94-89971del)
n.336-237631_336-237618del
c.3547_3560del (p.Asp1183SerfsTer3)
c.3202_3215del (p.Asp1068SerfsTer3)
c.3442_3455del (p.Asp1148SerfsTer3)
Xg.32454682T>ACA412662877DMDn.3790A>T
c.3583A>T (p.Lys1195Ter)
c.3571A>T (p.Lys1191Ter)
c.94-89483A>T (n.94-89483A>T)
c.94-89972A>T (n.94-89972A>T)
n.336-237619A>T
c.3559A>T (p.Lys1187Ter)
c.3214A>T (p.Lys1072Ter)
c.3454A>T (p.Lys1152Ter)
Xg.32454682T>CCA412662878DMDn.3790A>G
c.3583A>G (p.Lys1195Glu)
c.3571A>G (p.Lys1191Glu)
c.94-89483A>G (n.94-89483A>G)
c.94-89972A>G (n.94-89972A>G)
n.336-237619A>G
c.3559A>G (p.Lys1187Glu)
c.3214A>G (p.Lys1072Glu)
c.3454A>G (p.Lys1152Glu)
Xg.32454682T>GCA412662879DMDn.3790A>C
c.3583A>C (p.Lys1195Gln)
c.3571A>C (p.Lys1191Gln)
c.94-89483A>C (n.94-89483A>C)
c.94-89972A>C (n.94-89972A>C)
n.336-237619A>C
c.3559A>C (p.Lys1187Gln)
c.3214A>C (p.Lys1072Gln)
c.3454A>C (p.Lys1152Gln)
Xg.32454683C>ACA412662880DMDn.3789G>T
c.3582G>T (p.Gln1194His)
c.3570G>T (p.Gln1190His)
c.94-89484G>T (n.94-89484G>T)
c.94-89973G>T (n.94-89973G>T)
n.336-237620G>T
c.3558G>T (p.Gln1186His)
c.3213G>T (p.Gln1071His)
c.3453G>T (p.Gln1151His)
 gnomAD v4
Xg.32454683C>GCA412662881DMDn.3789G>C
c.3582G>C (p.Gln1194His)
c.3570G>C (p.Gln1190His)
c.94-89484G>C (n.94-89484G>C)
c.94-89973G>C (n.94-89973G>C)
n.336-237620G>C
c.3558G>C (p.Gln1186His)
c.3213G>C (p.Gln1071His)
c.3453G>C (p.Gln1151His)
Xg.32454683C>TCA515715243DMDn.3789G>A
c.3582G>A (p.Gln1194=)
c.3570G>A (p.Gln1190=)
c.94-89484G>A (n.94-89484G>A)
c.94-89973G>A (n.94-89973G>A)
n.336-237620G>A
c.3558G>A (p.Gln1186=)
c.3213G>A (p.Gln1071=)
c.3453G>A (p.Gln1151=)
 gnomAD v3 gnomAD v4
Xg.32454684T>ACA412662882DMDn.3788A>T
c.3581A>T (p.Gln1194Leu)
c.3569A>T (p.Gln1190Leu)
c.94-89485A>T (n.94-89485A>T)
c.94-89974A>T (n.94-89974A>T)
n.336-237621A>T
c.3557A>T (p.Gln1186Leu)
c.3212A>T (p.Gln1071Leu)
c.3452A>T (p.Gln1151Leu)
 dbSNP gnomAD v4
Xg.32454684T>CCA412662883DMDn.3788A>G
c.3581A>G (p.Gln1194Arg)
c.3569A>G (p.Gln1190Arg)
c.94-89485A>G (n.94-89485A>G)
c.94-89974A>G (n.94-89974A>G)
n.336-237621A>G
c.3557A>G (p.Gln1186Arg)
c.3212A>G (p.Gln1071Arg)
c.3452A>G (p.Gln1151Arg)
 gnomAD v4
Xg.32454684T>GCA412662884DMDn.3788A>C
c.3581A>C (p.Gln1194Pro)
c.3569A>C (p.Gln1190Pro)
c.94-89485A>C (n.94-89485A>C)
c.94-89974A>C (n.94-89974A>C)
n.336-237621A>C
c.3557A>C (p.Gln1186Pro)
c.3212A>C (p.Gln1071Pro)
c.3452A>C (p.Gln1151Pro)
Xg.32454684T=CA2422811192DMDn.3788A=
c.3581A= (p.Gln1194=)
c.3569A= (p.Gln1190=)
c.94-89485A= (n.94-89485A=)
c.94-89974A= (n.94-89974A=)
n.336-237621A=
c.3557A= (p.Gln1186=)
c.3212A= (p.Gln1071=)
c.3452A= (p.Gln1151=)
Xg.32454685G>ACA267006DMDn.3787C>T
c.3580C>T (p.Gln1194Ter)
c.3568C>T (p.Gln1190Ter)
c.94-89486C>T (n.94-89486C>T)
c.94-89975C>T (n.94-89975C>T)
n.336-237622C>T
c.3556C>T (p.Gln1186Ter)
c.3211C>T (p.Gln1071Ter)
c.3451C>T (p.Gln1151Ter)
 ClinVar dbSNP gnomAD v4
Xg.32454685G>CCA412662885DMDn.3787C>G
c.3580C>G (p.Gln1194Glu)
c.3568C>G (p.Gln1190Glu)
c.94-89486C>G (n.94-89486C>G)
c.94-89975C>G (n.94-89975C>G)
n.336-237622C>G
c.3556C>G (p.Gln1186Glu)
c.3211C>G (p.Gln1071Glu)
c.3451C>G (p.Gln1151Glu)
Xg.32454685G=CA2422811193DMDn.3787C=
c.3580C= (p.Gln1194=)
c.3568C= (p.Gln1190=)
c.94-89486C= (n.94-89486C=)
c.94-89975C= (n.94-89975C=)
n.336-237622C=
c.3556C= (p.Gln1186=)
c.3211C= (p.Gln1071=)
c.3451C= (p.Gln1151=)
Xg.32454685G>TCA412662886DMDn.3787C>A
c.3580C>A (p.Gln1194Lys)
c.3568C>A (p.Gln1190Lys)
c.94-89486C>A (n.94-89486C>A)
c.94-89975C>A (n.94-89975C>A)
n.336-237622C>A
c.3556C>A (p.Gln1186Lys)
c.3211C>A (p.Gln1071Lys)
c.3451C>A (p.Gln1151Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.32454686T>ACA412662887DMDn.3786A>T
c.3579A>T (p.Leu1193Phe)
c.3567A>T (p.Leu1189Phe)
c.94-89487A>T (n.94-89487A>T)
c.94-89976A>T (n.94-89976A>T)
n.336-237623A>T
c.3555A>T (p.Leu1185Phe)
c.3210A>T (p.Leu1070Phe)
c.3450A>T (p.Leu1150Phe)
Xg.32454686T>CCA515715245DMDn.3786A>G
c.3579A>G (p.Leu1193=)
c.3567A>G (p.Leu1189=)
c.94-89487A>G (n.94-89487A>G)
c.94-89976A>G (n.94-89976A>G)
n.336-237623A>G
c.3555A>G (p.Leu1185=)
c.3210A>G (p.Leu1070=)
c.3450A>G (p.Leu1150=)
Xg.32454686T>GCA412662888DMDn.3786A>C
c.3579A>C (p.Leu1193Phe)
c.3567A>C (p.Leu1189Phe)
c.94-89487A>C (n.94-89487A>C)
c.94-89976A>C (n.94-89976A>C)
n.336-237623A>C
c.3555A>C (p.Leu1185Phe)
c.3210A>C (p.Leu1070Phe)
c.3450A>C (p.Leu1150Phe)
Xg.32454687A>CCA412662889DMDn.3785T>G
c.3578T>G (p.Leu1193Ter)
c.3566T>G (p.Leu1189Ter)
c.94-89488T>G (n.94-89488T>G)
c.94-89977T>G (n.94-89977T>G)
n.336-237624T>G
c.3554T>G (p.Leu1185Ter)
c.3209T>G (p.Leu1070Ter)
c.3449T>G (p.Leu1150Ter)
 dbSNP
Xg.32454687A>GCA412662890DMDn.3785T>C
c.3578T>C (p.Leu1193Ser)
c.3566T>C (p.Leu1189Ser)
c.94-89488T>C (n.94-89488T>C)
c.94-89977T>C (n.94-89977T>C)
n.336-237624T>C
c.3554T>C (p.Leu1185Ser)
c.3209T>C (p.Leu1070Ser)
c.3449T>C (p.Leu1150Ser)
Xg.32454687A>TCA412662891DMDn.3785T>A
c.3578T>A (p.Leu1193Ter)
c.3566T>A (p.Leu1189Ter)
c.94-89488T>A (n.94-89488T>A)
c.94-89977T>A (n.94-89977T>A)
n.336-237624T>A
c.3554T>A (p.Leu1185Ter)
c.3209T>A (p.Leu1070Ter)
c.3449T>A (p.Leu1150Ter)
 dbSNP gnomAD v4
Xg.32454688delCA2579579888DMDn.3785del
c.3578del (p.Leu1193TyrfsTer8)
c.3566del (p.Leu1189TyrfsTer8)
c.94-89488del (n.94-89488del)
c.94-89977del (n.94-89977del)
n.336-237624del
c.3554del (p.Leu1185TyrfsTer8)
c.3209del (p.Leu1070TyrfsTer8)
c.3449del (p.Leu1150TyrfsTer8)
Xg.32454688A>CCA412662892DMDn.3784T>G
c.3577T>G (p.Leu1193Val)
c.3565T>G (p.Leu1189Val)
c.94-89489T>G (n.94-89489T>G)
c.94-89978T>G (n.94-89978T>G)
n.336-237625T>G
c.3553T>G (p.Leu1185Val)
c.3208T>G (p.Leu1070Val)
c.3448T>G (p.Leu1150Val)
Xg.32454688A>GCA515715246DMDn.3784T>C
c.3577T>C (p.Leu1193=)
c.3565T>C (p.Leu1189=)
c.94-89489T>C (n.94-89489T>C)
c.94-89978T>C (n.94-89978T>C)
n.336-237625T>C
c.3553T>C (p.Leu1185=)
c.3208T>C (p.Leu1070=)
c.3448T>C (p.Leu1150=)
Xg.32454688A>TCA412662893DMDn.3784T>A
c.3577T>A (p.Leu1193Ile)
c.3565T>A (p.Leu1189Ile)
c.94-89489T>A (n.94-89489T>A)
c.94-89978T>A (n.94-89978T>A)
n.336-237625T>A
c.3553T>A (p.Leu1185Ile)
c.3208T>A (p.Leu1070Ile)
c.3448T>A (p.Leu1150Ile)
 gnomAD v3 gnomAD v4
Xg.32454689T>ACA412662894DMDn.3783A>T
c.3576A>T (p.Glu1192Asp)
c.3564A>T (p.Glu1188Asp)
c.94-89490A>T (n.94-89490A>T)
c.94-89979A>T (n.94-89979A>T)
n.336-237626A>T
c.3552A>T (p.Glu1184Asp)
c.3207A>T (p.Glu1069Asp)
c.3447A>T (p.Glu1149Asp)
Xg.32454689T>CCA515715247DMDn.3783A>G
c.3576A>G (p.Glu1192=)
c.3564A>G (p.Glu1188=)
c.94-89490A>G (n.94-89490A>G)
c.94-89979A>G (n.94-89979A>G)
n.336-237626A>G
c.3552A>G (p.Glu1184=)
c.3207A>G (p.Glu1069=)
c.3447A>G (p.Glu1149=)
Xg.32454689T>GCA412662895DMDn.3783A>C
c.3576A>C (p.Glu1192Asp)
c.3564A>C (p.Glu1188Asp)
c.94-89490A>C (n.94-89490A>C)
c.94-89979A>C (n.94-89979A>C)
n.336-237626A>C
c.3552A>C (p.Glu1184Asp)
c.3207A>C (p.Glu1069Asp)
c.3447A>C (p.Glu1149Asp)
Xg.32454690T>ACA412662896DMDn.3782A>T
c.3575A>T (p.Glu1192Val)
c.3563A>T (p.Glu1188Val)
c.94-89491A>T (n.94-89491A>T)
c.94-89980A>T (n.94-89980A>T)
n.336-237627A>T
c.3551A>T (p.Glu1184Val)
c.3206A>T (p.Glu1069Val)
c.3446A>T (p.Glu1149Val)
Xg.32454690T>CCA412662898DMDn.3782A>G
c.3575A>G (p.Glu1192Gly)
c.3563A>G (p.Glu1188Gly)
c.94-89491A>G (n.94-89491A>G)
c.94-89980A>G (n.94-89980A>G)
n.336-237627A>G
c.3551A>G (p.Glu1184Gly)
c.3206A>G (p.Glu1069Gly)
c.3446A>G (p.Glu1149Gly)
 gnomAD v4
Xg.32454690T>GCA412662900DMDn.3782A>C
c.3575A>C (p.Glu1192Ala)
c.3563A>C (p.Glu1188Ala)
c.94-89491A>C (n.94-89491A>C)
c.94-89980A>C (n.94-89980A>C)
n.336-237627A>C
c.3551A>C (p.Glu1184Ala)
c.3206A>C (p.Glu1069Ala)
c.3446A>C (p.Glu1149Ala)
Xg.32454691C>ACA412662905DMDn.3781G>T
c.3574G>T (p.Glu1192Ter)
c.3562G>T (p.Glu1188Ter)
c.94-89492G>T (n.94-89492G>T)
c.94-89981G>T (n.94-89981G>T)
n.336-237628G>T
c.3550G>T (p.Glu1184Ter)
c.3205G>T (p.Glu1069Ter)
c.3445G>T (p.Glu1149Ter)
Xg.32454691C=CA2422811194DMDn.3781G=
c.3574G= (p.Glu1192=)
c.3562G= (p.Glu1188=)
c.94-89492G= (n.94-89492G=)
c.94-89981G= (n.94-89981G=)
n.336-237628G=
c.3550G= (p.Glu1184=)
c.3205G= (p.Glu1069=)
c.3445G= (p.Glu1149=)
Xg.32454691C>GCA412662907DMDn.3781G>C
c.3574G>C (p.Glu1192Gln)
c.3562G>C (p.Glu1188Gln)
c.94-89492G>C (n.94-89492G>C)
c.94-89981G>C (n.94-89981G>C)
n.336-237628G>C
c.3550G>C (p.Glu1184Gln)
c.3205G>C (p.Glu1069Gln)
c.3445G>C (p.Glu1149Gln)
Xg.32454691C>TCA412662902DMDn.3781G>A
c.3574G>A (p.Glu1192Lys)
c.3562G>A (p.Glu1188Lys)
c.94-89492G>A (n.94-89492G>A)
c.94-89981G>A (n.94-89981G>A)
n.336-237628G>A
c.3550G>A (p.Glu1184Lys)
c.3205G>A (p.Glu1069Lys)
c.3445G>A (p.Glu1149Lys)
 dbSNP gnomAD v4
Xg.32454692A=CA2422811195DMDn.3780T=
c.3573T= (p.Asp1191=)
c.3561T= (p.Asp1187=)
c.94-89493T= (n.94-89493T=)
c.94-89982T= (n.94-89982T=)
n.336-237629T=
c.3549T= (p.Asp1183=)
c.3204T= (p.Asp1068=)
c.3444T= (p.Asp1148=)
Xg.32454692A>CCA412662909DMDn.3780T>G
c.3573T>G (p.Asp1191Glu)
c.3561T>G (p.Asp1187Glu)
c.94-89493T>G (n.94-89493T>G)
c.94-89982T>G (n.94-89982T>G)
n.336-237629T>G
c.3549T>G (p.Asp1183Glu)
c.3204T>G (p.Asp1068Glu)
c.3444T>G (p.Asp1148Glu)
 ClinVar dbSNP gnomAD v4
Xg.32454692A>GCA515715251DMDn.3780T>C
c.3573T>C (p.Asp1191=)
c.3561T>C (p.Asp1187=)
c.94-89493T>C (n.94-89493T>C)
c.94-89982T>C (n.94-89982T>C)
n.336-237629T>C
c.3549T>C (p.Asp1183=)
c.3204T>C (p.Asp1068=)
c.3444T>C (p.Asp1148=)
 gnomAD v4
Xg.32454692A>TCA412662911DMDn.3780T>A
c.3573T>A (p.Asp1191Glu)
c.3561T>A (p.Asp1187Glu)
c.94-89493T>A (n.94-89493T>A)
c.94-89982T>A (n.94-89982T>A)
n.336-237629T>A
c.3549T>A (p.Asp1183Glu)
c.3204T>A (p.Asp1068Glu)
c.3444T>A (p.Asp1148Glu)
 gnomAD v3 gnomAD v4
Xg.32454693T>ACA412662914DMDn.3779A>T
c.3572A>T (p.Asp1191Val)
c.3560A>T (p.Asp1187Val)
c.94-89494A>T (n.94-89494A>T)
c.94-89983A>T (n.94-89983A>T)
n.336-237630A>T
c.3548A>T (p.Asp1183Val)
c.3203A>T (p.Asp1068Val)
c.3443A>T (p.Asp1148Val)
Xg.32454693T>CCA10379244DMDn.3779A>G
c.3572A>G (p.Asp1191Gly)
c.3560A>G (p.Asp1187Gly)
c.94-89494A>G (n.94-89494A>G)
c.94-89983A>G (n.94-89983A>G)
n.336-237630A>G
c.3548A>G (p.Asp1183Gly)
c.3203A>G (p.Asp1068Gly)
c.3443A>G (p.Asp1148Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.32454693T>GCA412662917DMDn.3779A>C
c.3572A>C (p.Asp1191Ala)
c.3560A>C (p.Asp1187Ala)
c.94-89494A>C (n.94-89494A>C)
c.94-89983A>C (n.94-89983A>C)
n.336-237630A>C
c.3548A>C (p.Asp1183Ala)
c.3203A>C (p.Asp1068Ala)
c.3443A>C (p.Asp1148Ala)
Xg.32454693T=CA2422811196DMDn.3779A=
c.3572A= (p.Asp1191=)
c.3560A= (p.Asp1187=)
c.94-89494A= (n.94-89494A=)
c.94-89983A= (n.94-89983A=)
n.336-237630A=
c.3548A= (p.Asp1183=)
c.3203A= (p.Asp1068=)
c.3443A= (p.Asp1148=)
Xg.32454694C>ACA412662920DMDn.3778G>T
c.3571G>T (p.Asp1191Tyr)
c.3559G>T (p.Asp1187Tyr)
c.94-89495G>T (n.94-89495G>T)
c.94-89984G>T (n.94-89984G>T)
n.336-237631G>T
c.3547G>T (p.Asp1183Tyr)
c.3202G>T (p.Asp1068Tyr)
c.3442G>T (p.Asp1148Tyr)
Xg.32454694C=CA2422811197DMDn.3778G=
c.3571G= (p.Asp1191=)
c.3559G= (p.Asp1187=)
c.94-89495G= (n.94-89495G=)
c.94-89984G= (n.94-89984G=)
n.336-237631G=
c.3547G= (p.Asp1183=)
c.3202G= (p.Asp1068=)
c.3442G= (p.Asp1148=)
Xg.32454694C>GCA412662922DMDn.3778G>C
c.3571G>C (p.Asp1191His)
c.3559G>C (p.Asp1187His)
c.94-89495G>C (n.94-89495G>C)
c.94-89984G>C (n.94-89984G>C)
n.336-237631G>C
c.3547G>C (p.Asp1183His)
c.3202G>C (p.Asp1068His)
c.3442G>C (p.Asp1148His)
 dbSNP gnomAD v2 gnomAD v4
Xg.32454694C>TCA412662925DMDn.3778G>A
c.3571G>A (p.Asp1191Asn)
c.3559G>A (p.Asp1187Asn)
c.94-89495G>A (n.94-89495G>A)
c.94-89984G>A (n.94-89984G>A)
n.336-237631G>A
c.3547G>A (p.Asp1183Asn)
c.3202G>A (p.Asp1068Asn)
c.3442G>A (p.Asp1148Asn)
 gnomAD v3 gnomAD v4
Xg.32454695T>ACA515715255DMDn.3777A>T
c.3570A>T (p.Pro1190=)
c.3558A>T (p.Pro1186=)
c.94-89496A>T (n.94-89496A>T)
c.94-89985A>T (n.94-89985A>T)
n.336-237632A>T
c.3546A>T (p.Pro1182=)
c.3201A>T (p.Pro1067=)
c.3441A>T (p.Pro1147=)
Xg.32454695T>CCA515715256DMDn.3777A>G
c.3570A>G (p.Pro1190=)
c.3558A>G (p.Pro1186=)
c.94-89496A>G (n.94-89496A>G)
c.94-89985A>G (n.94-89985A>G)
n.336-237632A>G
c.3546A>G (p.Pro1182=)
c.3201A>G (p.Pro1067=)
c.3441A>G (p.Pro1147=)
 ClinVar gnomAD v4
Xg.32454695T>GCA515715257DMDn.3777A>C
c.3570A>C (p.Pro1190=)
c.3558A>C (p.Pro1186=)
c.94-89496A>C (n.94-89496A>C)
c.94-89985A>C (n.94-89985A>C)
n.336-237632A>C
c.3546A>C (p.Pro1182=)
c.3201A>C (p.Pro1067=)
c.3441A>C (p.Pro1147=)
 ClinVar
Xg.32454696G>ACA412662927DMDn.3776C>T
c.3569C>T (p.Pro1190Leu)
c.3557C>T (p.Pro1186Leu)
c.94-89497C>T (n.94-89497C>T)
c.94-89986C>T (n.94-89986C>T)
n.336-237633C>T
c.3545C>T (p.Pro1182Leu)
c.3200C>T (p.Pro1067Leu)
c.3440C>T (p.Pro1147Leu)
Xg.32454696G>CCA412662929DMDn.3776C>G
c.3569C>G (p.Pro1190Arg)
c.3557C>G (p.Pro1186Arg)
c.94-89497C>G (n.94-89497C>G)
c.94-89986C>G (n.94-89986C>G)
n.336-237633C>G
c.3545C>G (p.Pro1182Arg)
c.3200C>G (p.Pro1067Arg)
c.3440C>G (p.Pro1147Arg)
Xg.32454696G=CA2422811198DMDn.3776C=
c.3569C= (p.Pro1190=)
c.3557C= (p.Pro1186=)
c.94-89497C= (n.94-89497C=)
c.94-89986C= (n.94-89986C=)
n.336-237633C=
c.3545C= (p.Pro1182=)
c.3200C= (p.Pro1067=)
c.3440C= (p.Pro1147=)
Xg.32454696G>TCA327996959DMDn.3776C>A
c.3569C>A (p.Pro1190Gln)
c.3557C>A (p.Pro1186Gln)
c.94-89497C>A (n.94-89497C>A)
c.94-89986C>A (n.94-89986C>A)
n.336-237633C>A
c.3545C>A (p.Pro1182Gln)
c.3200C>A (p.Pro1067Gln)
c.3440C>A (p.Pro1147Gln)
 dbSNP gnomAD v3 gnomAD v4
Xg.32454697delCA2579579889DMDn.3776del
c.3569del (p.Pro1190GlnfsTer11)
c.3557del (p.Pro1186GlnfsTer11)
c.94-89497del (n.94-89497del)
c.94-89986del (n.94-89986del)
n.336-237633del
c.3545del (p.Pro1182GlnfsTer11)
c.3200del (p.Pro1067GlnfsTer11)
c.3440del (p.Pro1147GlnfsTer11)
Xg.32454697G>ACA412662935DMDn.3775C>T
c.3568C>T (p.Pro1190Ser)
c.3556C>T (p.Pro1186Ser)
c.94-89498C>T (n.94-89498C>T)
c.94-89987C>T (n.94-89987C>T)
n.336-237634C>T
c.3544C>T (p.Pro1182Ser)
c.3199C>T (p.Pro1067Ser)
c.3439C>T (p.Pro1147Ser)
 gnomAD v4
Xg.32454697G>CCA412662936DMDn.3775C>G
c.3568C>G (p.Pro1190Ala)
c.3556C>G (p.Pro1186Ala)
c.94-89498C>G (n.94-89498C>G)
c.94-89987C>G (n.94-89987C>G)
n.336-237634C>G
c.3544C>G (p.Pro1182Ala)
c.3199C>G (p.Pro1067Ala)
c.3439C>G (p.Pro1147Ala)
 gnomAD v4
Xg.32454697G>TCA412662933DMDn.3775C>A
c.3568C>A (p.Pro1190Thr)
c.3556C>A (p.Pro1186Thr)
c.94-89498C>A (n.94-89498C>A)
c.94-89987C>A (n.94-89987C>A)
n.336-237634C>A
c.3544C>A (p.Pro1182Thr)
c.3199C>A (p.Pro1067Thr)
c.3439C>A (p.Pro1147Thr)
 gnomAD v3 gnomAD v4
Xg.32454698A=CA2422811199DMDn.3774T=
c.3567T= (p.Thr1189=)
c.3555T= (p.Thr1185=)
c.94-89499T= (n.94-89499T=)
c.94-89988T= (n.94-89988T=)
n.336-237635T=
c.3543T= (p.Thr1181=)
c.3198T= (p.Thr1066=)
c.3438T= (p.Thr1146=)
Xg.32454698A>CCA515715258DMDn.3774T>G
c.3567T>G (p.Thr1189=)
c.3555T>G (p.Thr1185=)
c.94-89499T>G (n.94-89499T>G)
c.94-89988T>G (n.94-89988T>G)
n.336-237635T>G
c.3543T>G (p.Thr1181=)
c.3198T>G (p.Thr1066=)
c.3438T>G (p.Thr1146=)
Xg.32454698A>GCA327996962DMDn.3774T>C
c.3567T>C (p.Thr1189=)
c.3555T>C (p.Thr1185=)
c.94-89499T>C (n.94-89499T>C)
c.94-89988T>C (n.94-89988T>C)
n.336-237635T>C
c.3543T>C (p.Thr1181=)
c.3198T>C (p.Thr1066=)
c.3438T>C (p.Thr1146=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32454698A>TCA10379245DMDn.3774T>A
c.3567T>A (p.Thr1189=)
c.3555T>A (p.Thr1185=)
c.94-89499T>A (n.94-89499T>A)
c.94-89988T>A (n.94-89988T>A)
n.336-237635T>A
c.3543T>A (p.Thr1181=)
c.3198T>A (p.Thr1066=)
c.3438T>A (p.Thr1146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454699G>ACA412662941DMDn.3773C>T
c.3566C>T (p.Thr1189Ile)
c.3554C>T (p.Thr1185Ile)
c.94-89500C>T (n.94-89500C>T)
c.94-89989C>T (n.94-89989C>T)
n.336-237636C>T
c.3542C>T (p.Thr1181Ile)
c.3197C>T (p.Thr1066Ile)
c.3437C>T (p.Thr1146Ile)
Xg.32454699G>CCA412662943DMDn.3773C>G
c.3566C>G (p.Thr1189Ser)
c.3554C>G (p.Thr1185Ser)
c.94-89500C>G (n.94-89500C>G)
c.94-89989C>G (n.94-89989C>G)
n.336-237636C>G
c.3542C>G (p.Thr1181Ser)
c.3197C>G (p.Thr1066Ser)
c.3437C>G (p.Thr1146Ser)
Xg.32454699G>TCA412662945DMDn.3773C>A
c.3566C>A (p.Thr1189Asn)
c.3554C>A (p.Thr1185Asn)
c.94-89500C>A (n.94-89500C>A)
c.94-89989C>A (n.94-89989C>A)
n.336-237636C>A
c.3542C>A (p.Thr1181Asn)
c.3197C>A (p.Thr1066Asn)
c.3437C>A (p.Thr1146Asn)
 gnomAD v3 gnomAD v4
Xg.32454700T>ACA412662952DMDn.3772A>T
c.3565A>T (p.Thr1189Ser)
c.3553A>T (p.Thr1185Ser)
c.94-89501A>T (n.94-89501A>T)
c.94-89990A>T (n.94-89990A>T)
n.336-237637A>T
c.3541A>T (p.Thr1181Ser)
c.3196A>T (p.Thr1066Ser)
c.3436A>T (p.Thr1146Ser)
Xg.32454700T>CCA412662948DMDn.3772A>G
c.3565A>G (p.Thr1189Ala)
c.3553A>G (p.Thr1185Ala)
c.94-89501A>G (n.94-89501A>G)
c.94-89990A>G (n.94-89990A>G)
n.336-237637A>G
c.3541A>G (p.Thr1181Ala)
c.3196A>G (p.Thr1066Ala)
c.3436A>G (p.Thr1146Ala)
Xg.32454700T>GCA412662950DMDn.3772A>C
c.3565A>C (p.Thr1189Pro)
c.3553A>C (p.Thr1185Pro)
c.94-89501A>C (n.94-89501A>C)
c.94-89990A>C (n.94-89990A>C)
n.336-237637A>C
c.3541A>C (p.Thr1181Pro)
c.3196A>C (p.Thr1066Pro)
c.3436A>C (p.Thr1146Pro)
Xg.32454703dupCA2695231950DMDn.3772dup
c.3565dup (p.Thr1189AsnfsTer4)
c.3553dup (p.Thr1185AsnfsTer4)
c.94-89501dup (n.94-89501dup)
c.94-89990dup (n.94-89990dup)
n.336-237637dup
c.3541dup (p.Thr1181AsnfsTer4)
c.3196dup (p.Thr1066AsnfsTer4)
c.3436dup (p.Thr1146AsnfsTer4)
Xg.32454703delCA2573158577DMDn.3772del
c.3565del (p.Thr1189LeufsTer12)
c.3553del (p.Thr1185LeufsTer12)
c.94-89501del (n.94-89501del)
c.94-89990del (n.94-89990del)
n.336-237637del
c.3541del (p.Thr1181LeufsTer12)
c.3196del (p.Thr1066LeufsTer12)
c.3436del (p.Thr1146LeufsTer12)
 ClinVar dbSNP
Xg.32454701T>ACA412662956DMDn.3771A>T
c.3564A>T (p.Lys1188Asn)
c.3552A>T (p.Lys1184Asn)
c.94-89502A>T (n.94-89502A>T)
c.94-89991A>T (n.94-89991A>T)
n.336-237638A>T
c.3540A>T (p.Lys1180Asn)
c.3195A>T (p.Lys1065Asn)
c.3435A>T (p.Lys1145Asn)
Xg.32454701T>CCA515715260DMDn.3771A>G
c.3564A>G (p.Lys1188=)
c.3552A>G (p.Lys1184=)
c.94-89502A>G (n.94-89502A>G)
c.94-89991A>G (n.94-89991A>G)
n.336-237638A>G
c.3540A>G (p.Lys1180=)
c.3195A>G (p.Lys1065=)
c.3435A>G (p.Lys1145=)
Xg.32454701T>GCA412662958DMDn.3771A>C
c.3564A>C (p.Lys1188Asn)
c.3552A>C (p.Lys1184Asn)
c.94-89502A>C (n.94-89502A>C)
c.94-89991A>C (n.94-89991A>C)
n.336-237638A>C
c.3540A>C (p.Lys1180Asn)
c.3195A>C (p.Lys1065Asn)
c.3435A>C (p.Lys1145Asn)
Xg.32454702T>ACA412662960DMDn.3770A>T
c.3563A>T (p.Lys1188Ile)
c.3551A>T (p.Lys1184Ile)
c.94-89503A>T (n.94-89503A>T)
c.94-89992A>T (n.94-89992A>T)
n.336-237639A>T
c.3539A>T (p.Lys1180Ile)
c.3194A>T (p.Lys1065Ile)
c.3434A>T (p.Lys1145Ile)
 gnomAD v4
Xg.32454702T>CCA412662963DMDn.3770A>G
c.3563A>G (p.Lys1188Arg)
c.3551A>G (p.Lys1184Arg)
c.94-89503A>G (n.94-89503A>G)
c.94-89992A>G (n.94-89992A>G)
n.336-237639A>G
c.3539A>G (p.Lys1180Arg)
c.3194A>G (p.Lys1065Arg)
c.3434A>G (p.Lys1145Arg)
Xg.32454702T>GCA412662965DMDn.3770A>C
c.3563A>C (p.Lys1188Thr)
c.3551A>C (p.Lys1184Thr)
c.94-89503A>C (n.94-89503A>C)
c.94-89992A>C (n.94-89992A>C)
n.336-237639A>C
c.3539A>C (p.Lys1180Thr)
c.3194A>C (p.Lys1065Thr)
c.3434A>C (p.Lys1145Thr)
Xg.32454703T>ACA412662972DMDn.3769A>T
c.3562A>T (p.Lys1188Ter)
c.3550A>T (p.Lys1184Ter)
c.94-89504A>T (n.94-89504A>T)
c.94-89993A>T (n.94-89993A>T)
n.336-237640A>T
c.3538A>T (p.Lys1180Ter)
c.3193A>T (p.Lys1065Ter)
c.3433A>T (p.Lys1145Ter)
 ClinVar dbSNP
Xg.32454703T>CCA412662971DMDn.3769A>G
c.3562A>G (p.Lys1188Glu)
c.3550A>G (p.Lys1184Glu)
c.94-89504A>G (n.94-89504A>G)
c.94-89993A>G (n.94-89993A>G)
n.336-237640A>G
c.3538A>G (p.Lys1180Glu)
c.3193A>G (p.Lys1065Glu)
c.3433A>G (p.Lys1145Glu)
 ClinVar dbSNP
Xg.32454703T>GCA412662968DMDn.3769A>C
c.3562A>C (p.Lys1188Gln)
c.3550A>C (p.Lys1184Gln)
c.94-89504A>C (n.94-89504A>C)
c.94-89993A>C (n.94-89993A>C)
n.336-237640A>C
c.3538A>C (p.Lys1180Gln)
c.3193A>C (p.Lys1065Gln)
c.3433A>C (p.Lys1145Gln)
Xg.32454704A=CA2422811200DMDn.3768T=
c.3561T= (p.Tyr1187=)
c.3549T= (p.Tyr1183=)
c.94-89505T= (n.94-89505T=)
c.94-89994T= (n.94-89994T=)
n.336-237641T=
c.3537T= (p.Tyr1179=)
c.3192T= (p.Tyr1064=)
c.3432T= (p.Tyr1144=)
Xg.32454704A>CCA412662976DMDn.3768T>G
c.3561T>G (p.Tyr1187Ter)
c.3549T>G (p.Tyr1183Ter)
c.94-89505T>G (n.94-89505T>G)
c.94-89994T>G (n.94-89994T>G)
n.336-237641T>G
c.3537T>G (p.Tyr1179Ter)
c.3192T>G (p.Tyr1064Ter)
c.3432T>G (p.Tyr1144Ter)
Xg.32454704A>GCA10379246DMDn.3768T>C
c.3561T>C (p.Tyr1187=)
c.3549T>C (p.Tyr1183=)
c.94-89505T>C (n.94-89505T>C)
c.94-89994T>C (n.94-89994T>C)
n.336-237641T>C
c.3537T>C (p.Tyr1179=)
c.3192T>C (p.Tyr1064=)
c.3432T>C (p.Tyr1144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454704A>TCA412662977DMDn.3768T>A
c.3561T>A (p.Tyr1187Ter)
c.3549T>A (p.Tyr1183Ter)
c.94-89505T>A (n.94-89505T>A)
c.94-89994T>A (n.94-89994T>A)
n.336-237641T>A
c.3537T>A (p.Tyr1179Ter)
c.3192T>A (p.Tyr1064Ter)
c.3432T>A (p.Tyr1144Ter)
 gnomAD v3 gnomAD v4
Xg.32454705T>ACA412662981DMDn.3767A>T
c.3560A>T (p.Tyr1187Phe)
c.3548A>T (p.Tyr1183Phe)
c.94-89506A>T (n.94-89506A>T)
c.94-89995A>T (n.94-89995A>T)
n.336-237642A>T
c.3536A>T (p.Tyr1179Phe)
c.3191A>T (p.Tyr1064Phe)
c.3431A>T (p.Tyr1144Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.32454705T>CCA10379247DMDn.3767A>G
c.3560A>G (p.Tyr1187Cys)
c.3548A>G (p.Tyr1183Cys)
c.94-89506A>G (n.94-89506A>G)
c.94-89995A>G (n.94-89995A>G)
n.336-237642A>G
c.3536A>G (p.Tyr1179Cys)
c.3191A>G (p.Tyr1064Cys)
c.3431A>G (p.Tyr1144Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454705T>GCA412662983DMDn.3767A>C
c.3560A>C (p.Tyr1187Ser)
c.3548A>C (p.Tyr1183Ser)
c.94-89506A>C (n.94-89506A>C)
c.94-89995A>C (n.94-89995A>C)
n.336-237642A>C
c.3536A>C (p.Tyr1179Ser)
c.3191A>C (p.Tyr1064Ser)
c.3431A>C (p.Tyr1144Ser)
Xg.32454705T=CA2422811201DMDn.3767A=
c.3560A= (p.Tyr1187=)
c.3548A= (p.Tyr1183=)
c.94-89506A= (n.94-89506A=)
c.94-89995A= (n.94-89995A=)
n.336-237642A=
c.3536A= (p.Tyr1179=)
c.3191A= (p.Tyr1064=)
c.3431A= (p.Tyr1144=)
Xg.32454706A=CA2422811202DMDn.3766T=
c.3559T= (p.Tyr1187=)
c.3547T= (p.Tyr1183=)
c.94-89507T= (n.94-89507T=)
c.94-89996T= (n.94-89996T=)
n.336-237643T=
c.3535T= (p.Tyr1179=)
c.3190T= (p.Tyr1064=)
c.3430T= (p.Tyr1144=)
Xg.32454706A>CCA412662986DMDn.3766T>G
c.3559T>G (p.Tyr1187Asp)
c.3547T>G (p.Tyr1183Asp)
c.94-89507T>G (n.94-89507T>G)
c.94-89996T>G (n.94-89996T>G)
n.336-237643T>G
c.3535T>G (p.Tyr1179Asp)
c.3190T>G (p.Tyr1064Asp)
c.3430T>G (p.Tyr1144Asp)
Xg.32454706A>GCA412662987DMDn.3766T>C
c.3559T>C (p.Tyr1187His)
c.3547T>C (p.Tyr1183His)
c.94-89507T>C (n.94-89507T>C)
c.94-89996T>C (n.94-89996T>C)
n.336-237643T>C
c.3535T>C (p.Tyr1179His)
c.3190T>C (p.Tyr1064His)
c.3430T>C (p.Tyr1144His)
 dbSNP gnomAD v2 gnomAD v4
Xg.32454706A>TCA412662990DMDn.3766T>A
c.3559T>A (p.Tyr1187Asn)
c.3547T>A (p.Tyr1183Asn)
c.94-89507T>A (n.94-89507T>A)
c.94-89996T>A (n.94-89996T>A)
n.336-237643T>A
c.3535T>A (p.Tyr1179Asn)
c.3190T>A (p.Tyr1064Asn)
c.3430T>A (p.Tyr1144Asn)
Xg.32454707T>ACA412662993DMDn.3765A>T
c.3558A>T (p.Glu1186Asp)
c.3546A>T (p.Glu1182Asp)
c.94-89508A>T (n.94-89508A>T)
c.94-89997A>T (n.94-89997A>T)
n.336-237644A>T
c.3534A>T (p.Glu1178Asp)
c.3189A>T (p.Glu1063Asp)
c.3429A>T (p.Glu1143Asp)
Xg.32454707T>CCA515715264DMDn.3765A>G
c.3558A>G (p.Glu1186=)
c.3546A>G (p.Glu1182=)
c.94-89508A>G (n.94-89508A>G)
c.94-89997A>G (n.94-89997A>G)
n.336-237644A>G
c.3534A>G (p.Glu1178=)
c.3189A>G (p.Glu1063=)
c.3429A>G (p.Glu1143=)
Xg.32454707T>GCA412662995DMDn.3765A>C
c.3558A>C (p.Glu1186Asp)
c.3546A>C (p.Glu1182Asp)
c.94-89508A>C (n.94-89508A>C)
c.94-89997A>C (n.94-89997A>C)
n.336-237644A>C
c.3534A>C (p.Glu1178Asp)
c.3189A>C (p.Glu1063Asp)
c.3429A>C (p.Glu1143Asp)
Xg.32454708T>ACA327996966DMDn.3764A>T
c.3557A>T (p.Glu1186Val)
c.3545A>T (p.Glu1182Val)
c.94-89509A>T (n.94-89509A>T)
c.94-89998A>T (n.94-89998A>T)
n.336-237645A>T
c.3533A>T (p.Glu1178Val)
c.3188A>T (p.Glu1063Val)
c.3428A>T (p.Glu1143Val)
 ClinVar dbSNP gnomAD v4
Xg.32454708T>CCA412662998DMDn.3764A>G
c.3557A>G (p.Glu1186Gly)
c.3545A>G (p.Glu1182Gly)
c.94-89509A>G (n.94-89509A>G)
c.94-89998A>G (n.94-89998A>G)
n.336-237645A>G
c.3533A>G (p.Glu1178Gly)
c.3188A>G (p.Glu1063Gly)
c.3428A>G (p.Glu1143Gly)
Xg.32454708T>GCA412663000DMDn.3764A>C
c.3557A>C (p.Glu1186Ala)
c.3545A>C (p.Glu1182Ala)
c.94-89509A>C (n.94-89509A>C)
c.94-89998A>C (n.94-89998A>C)
n.336-237645A>C
c.3533A>C (p.Glu1178Ala)
c.3188A>C (p.Glu1063Ala)
c.3428A>C (p.Glu1143Ala)
Xg.32454708T=CA2422811203DMDn.3764A=
c.3557A= (p.Glu1186=)
c.3545A= (p.Glu1182=)
c.94-89509A= (n.94-89509A=)
c.94-89998A= (n.94-89998A=)
n.336-237645A=
c.3533A= (p.Glu1178=)
c.3188A= (p.Glu1063=)
c.3428A= (p.Glu1143=)
Xg.32454709C>ACA327996980DMDn.3763G>T
c.3556G>T (p.Glu1186Ter)
c.3544G>T (p.Glu1182Ter)
c.94-89510G>T (n.94-89510G>T)
c.94-89999G>T (n.94-89999G>T)
n.336-237646G>T
c.3532G>T (p.Glu1178Ter)
c.3187G>T (p.Glu1063Ter)
c.3427G>T (p.Glu1143Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
Xg.32454709C=CA2422811204DMDn.3763G=
c.3556G= (p.Glu1186=)
c.3544G= (p.Glu1182=)
c.94-89510G= (n.94-89510G=)
c.94-89999G= (n.94-89999G=)
n.336-237646G=
c.3532G= (p.Glu1178=)
c.3187G= (p.Glu1063=)
c.3427G= (p.Glu1143=)
Xg.32454709C>GCA412663001DMDn.3763G>C
c.3556G>C (p.Glu1186Gln)
c.3544G>C (p.Glu1182Gln)
c.94-89510G>C (n.94-89510G>C)
c.94-89999G>C (n.94-89999G>C)
n.336-237646G>C
c.3532G>C (p.Glu1178Gln)
c.3187G>C (p.Glu1063Gln)
c.3427G>C (p.Glu1143Gln)
 COSMIC COSMIC COSMIC
Xg.32454709C>TCA412663003DMDn.3763G>A
c.3556G>A (p.Glu1186Lys)
c.3544G>A (p.Glu1182Lys)
c.94-89510G>A (n.94-89510G>A)
c.94-89999G>A (n.94-89999G>A)
n.336-237646G>A
c.3532G>A (p.Glu1178Lys)
c.3187G>A (p.Glu1063Lys)
c.3427G>A (p.Glu1143Lys)
Xg.32454710A>CCA412663007DMDn.3762T>G
c.3555T>G (p.Phe1185Leu)
c.3543T>G (p.Phe1181Leu)
c.94-89511T>G (n.94-89511T>G)
c.94-90000T>G (n.94-90000T>G)
n.336-237647T>G
c.3531T>G (p.Phe1177Leu)
c.3186T>G (p.Phe1062Leu)
c.3426T>G (p.Phe1142Leu)
Xg.32454710A>GCA515715266DMDn.3762T>C
c.3555T>C (p.Phe1185=)
c.3543T>C (p.Phe1181=)
c.94-89511T>C (n.94-89511T>C)
c.94-90000T>C (n.94-90000T>C)
n.336-237647T>C
c.3531T>C (p.Phe1177=)
c.3186T>C (p.Phe1062=)
c.3426T>C (p.Phe1142=)
Xg.32454710A>TCA412663009DMDn.3762T>A
c.3555T>A (p.Phe1185Leu)
c.3543T>A (p.Phe1181Leu)
c.94-89511T>A (n.94-89511T>A)
c.94-90000T>A (n.94-90000T>A)
n.336-237647T>A
c.3531T>A (p.Phe1177Leu)
c.3186T>A (p.Phe1062Leu)
c.3426T>A (p.Phe1142Leu)
Xg.32454711A>CCA412663012DMDn.3761T>G
c.3554T>G (p.Phe1185Cys)
c.3542T>G (p.Phe1181Cys)
c.94-89512T>G (n.94-89512T>G)
c.94-90001T>G (n.94-90001T>G)
n.336-237648T>G
c.3530T>G (p.Phe1177Cys)
c.3185T>G (p.Phe1062Cys)
c.3425T>G (p.Phe1142Cys)
Xg.32454711A>GCA412663014DMDn.3761T>C
c.3554T>C (p.Phe1185Ser)
c.3542T>C (p.Phe1181Ser)
c.94-89512T>C (n.94-89512T>C)
c.94-90001T>C (n.94-90001T>C)
n.336-237648T>C
c.3530T>C (p.Phe1177Ser)
c.3185T>C (p.Phe1062Ser)
c.3425T>C (p.Phe1142Ser)
 COSMIC COSMIC
Xg.32454711A>TCA412663016DMDn.3761T>A
c.3554T>A (p.Phe1185Tyr)
c.3542T>A (p.Phe1181Tyr)
c.94-89512T>A (n.94-89512T>A)
c.94-90001T>A (n.94-90001T>A)
n.336-237648T>A
c.3530T>A (p.Phe1177Tyr)
c.3185T>A (p.Phe1062Tyr)
c.3425T>A (p.Phe1142Tyr)
Xg.32454712A>CCA412663018DMDn.3760T>G
c.3553T>G (p.Phe1185Val)
c.3541T>G (p.Phe1181Val)
c.94-89513T>G (n.94-89513T>G)
c.94-90002T>G (n.94-90002T>G)
n.336-237649T>G
c.3529T>G (p.Phe1177Val)
c.3184T>G (p.Phe1062Val)
c.3424T>G (p.Phe1142Val)
Xg.32454712A>GCA412663019DMDn.3760T>C
c.3553T>C (p.Phe1185Leu)
c.3541T>C (p.Phe1181Leu)
c.94-89513T>C (n.94-89513T>C)
c.94-90002T>C (n.94-90002T>C)
n.336-237649T>C
c.3529T>C (p.Phe1177Leu)
c.3184T>C (p.Phe1062Leu)
c.3424T>C (p.Phe1142Leu)
Xg.32454712A>TCA412663020DMDn.3760T>A
c.3553T>A (p.Phe1185Ile)
c.3541T>A (p.Phe1181Ile)
c.94-89513T>A (n.94-89513T>A)
c.94-90002T>A (n.94-90002T>A)
n.336-237649T>A
c.3529T>A (p.Phe1177Ile)
c.3184T>A (p.Phe1062Ile)
c.3424T>A (p.Phe1142Ile)
Xg.32454713A=CA2422811205DMDn.3759T=
c.3552T= (p.Asp1184=)
c.3540T= (p.Asp1180=)
c.94-89514T= (n.94-89514T=)
c.94-90003T= (n.94-90003T=)
n.336-237650T=
c.3528T= (p.Asp1176=)
c.3183T= (p.Asp1061=)
c.3423T= (p.Asp1141=)
Xg.32454713A>CCA412663021DMDn.3759T>G
c.3552T>G (p.Asp1184Glu)
c.3540T>G (p.Asp1180Glu)
c.94-89514T>G (n.94-89514T>G)
c.94-90003T>G (n.94-90003T>G)
n.336-237650T>G
c.3528T>G (p.Asp1176Glu)
c.3183T>G (p.Asp1061Glu)
c.3423T>G (p.Asp1141Glu)
Xg.32454713A>GCA515715267DMDn.3759T>C
c.3552T>C (p.Asp1184=)
c.3540T>C (p.Asp1180=)
c.94-89514T>C (n.94-89514T>C)
c.94-90003T>C (n.94-90003T>C)
n.336-237650T>C
c.3528T>C (p.Asp1176=)
c.3183T>C (p.Asp1061=)
c.3423T>C (p.Asp1141=)
Xg.32454713A>TCA10379248DMDn.3759T>A
c.3552T>A (p.Asp1184Glu)
c.3540T>A (p.Asp1180Glu)
c.94-89514T>A (n.94-89514T>A)
c.94-90003T>A (n.94-90003T>A)
n.336-237650T>A
c.3528T>A (p.Asp1176Glu)
c.3183T>A (p.Asp1061Glu)
c.3423T>A (p.Asp1141Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454714T>ACA412663027DMDn.3758A>T
c.3551A>T (p.Asp1184Val)
c.3539A>T (p.Asp1180Val)
c.94-89515A>T (n.94-89515A>T)
c.94-90004A>T (n.94-90004A>T)
n.336-237651A>T
c.3527A>T (p.Asp1176Val)
c.3182A>T (p.Asp1061Val)
c.3422A>T (p.Asp1141Val)
Xg.32454714T>CCA412663029DMDn.3758A>G
c.3551A>G (p.Asp1184Gly)
c.3539A>G (p.Asp1180Gly)
c.94-89515A>G (n.94-89515A>G)
c.94-90004A>G (n.94-90004A>G)
n.336-237651A>G
c.3527A>G (p.Asp1176Gly)
c.3182A>G (p.Asp1061Gly)
c.3422A>G (p.Asp1141Gly)
 gnomAD v4
Xg.32454714T>GCA412663025DMDn.3758A>C
c.3551A>C (p.Asp1184Ala)
c.3539A>C (p.Asp1180Ala)
c.94-89515A>C (n.94-89515A>C)
c.94-90004A>C (n.94-90004A>C)
n.336-237651A>C
c.3527A>C (p.Asp1176Ala)
c.3182A>C (p.Asp1061Ala)
c.3422A>C (p.Asp1141Ala)
Xg.32454720_32454721delCA2695231952DMDn.3757_3758del
c.3550_3551del (p.Asp1184PhefsTer2)
c.3538_3539del (p.Asp1180PhefsTer2)
c.94-89516_94-89515del (n.94-89516_94-89515del)
c.94-90005_94-90004del (n.94-90005_94-90004del)
n.336-237652_336-237651del
c.3526_3527del (p.Asp1176PhefsTer2)
c.3181_3182del (p.Asp1061PhefsTer2)
c.3421_3422del (p.Asp1141PhefsTer2)
Xg.32454715C>ACA412663031DMDn.3757G>T
c.3550G>T (p.Asp1184Tyr)
c.3538G>T (p.Asp1180Tyr)
c.94-89516G>T (n.94-89516G>T)
c.94-90005G>T (n.94-90005G>T)
n.336-237652G>T
c.3526G>T (p.Asp1176Tyr)
c.3181G>T (p.Asp1061Tyr)
c.3421G>T (p.Asp1141Tyr)
Xg.32454715C>GCA412663033DMDn.3757G>C
c.3550G>C (p.Asp1184His)
c.3538G>C (p.Asp1180His)
c.94-89516G>C (n.94-89516G>C)
c.94-90005G>C (n.94-90005G>C)
n.336-237652G>C
c.3526G>C (p.Asp1176His)
c.3181G>C (p.Asp1061His)
c.3421G>C (p.Asp1141His)
Xg.32454715C>TCA412663035DMDn.3757G>A
c.3550G>A (p.Asp1184Asn)
c.3538G>A (p.Asp1180Asn)
c.94-89516G>A (n.94-89516G>A)
c.94-90005G>A (n.94-90005G>A)
n.336-237652G>A
c.3526G>A (p.Asp1176Asn)
c.3181G>A (p.Asp1061Asn)
c.3421G>A (p.Asp1141Asn)
Xg.32454716T>ACA412663037DMDn.3756A>T
c.3549A>T (p.Arg1183Ser)
c.3537A>T (p.Arg1179Ser)
c.94-89517A>T (n.94-89517A>T)
c.94-90006A>T (n.94-90006A>T)
n.336-237653A>T
c.3525A>T (p.Arg1175Ser)
c.3180A>T (p.Arg1060Ser)
c.3420A>T (p.Arg1140Ser)
Xg.32454716T>CCA515715268DMDn.3756A>G
c.3549A>G (p.Arg1183=)
c.3537A>G (p.Arg1179=)
c.94-89517A>G (n.94-89517A>G)
c.94-90006A>G (n.94-90006A>G)
n.336-237653A>G
c.3525A>G (p.Arg1175=)
c.3180A>G (p.Arg1060=)
c.3420A>G (p.Arg1140=)
 gnomAD v4
Xg.32454716T>GCA412663039DMDn.3756A>C
c.3549A>C (p.Arg1183Ser)
c.3537A>C (p.Arg1179Ser)
c.94-89517A>C (n.94-89517A>C)
c.94-90006A>C (n.94-90006A>C)
n.336-237653A>C
c.3525A>C (p.Arg1175Ser)
c.3180A>C (p.Arg1060Ser)
c.3420A>C (p.Arg1140Ser)
Xg.32454717C>ACA412663042DMDn.3755G>T
c.3548G>T (p.Arg1183Ile)
c.3536G>T (p.Arg1179Ile)
c.94-89518G>T (n.94-89518G>T)
c.94-90007G>T (n.94-90007G>T)
n.336-237654G>T
c.3524G>T (p.Arg1175Ile)
c.3179G>T (p.Arg1060Ile)
c.3419G>T (p.Arg1140Ile)
 dbSNP
Xg.32454717C=CA2422811206DMDn.3755G=
c.3548G= (p.Arg1183=)
c.3536G= (p.Arg1179=)
c.94-89518G= (n.94-89518G=)
c.94-90007G= (n.94-90007G=)
n.336-237654G=
c.3524G= (p.Arg1175=)
c.3179G= (p.Arg1060=)
c.3419G= (p.Arg1140=)
Xg.32454717C>GCA10379249DMDn.3755G>C
c.3548G>C (p.Arg1183Thr)
c.3536G>C (p.Arg1179Thr)
c.94-89518G>C (n.94-89518G>C)
c.94-90007G>C (n.94-90007G>C)
n.336-237654G>C
c.3524G>C (p.Arg1175Thr)
c.3179G>C (p.Arg1060Thr)
c.3419G>C (p.Arg1140Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454717C>TCA412663044DMDn.3755G>A
c.3548G>A (p.Arg1183Lys)
c.3536G>A (p.Arg1179Lys)
c.94-89518G>A (n.94-89518G>A)
c.94-90007G>A (n.94-90007G>A)
n.336-237654G>A
c.3524G>A (p.Arg1175Lys)
c.3179G>A (p.Arg1060Lys)
c.3419G>A (p.Arg1140Lys)
Xg.32454718T>ACA412663045DMDn.3754A>T
c.3547A>T (p.Arg1183Ter)
c.3535A>T (p.Arg1179Ter)
c.94-89519A>T (n.94-89519A>T)
c.94-90008A>T (n.94-90008A>T)
n.336-237655A>T
c.3523A>T (p.Arg1175Ter)
c.3178A>T (p.Arg1060Ter)
c.3418A>T (p.Arg1140Ter)
Xg.32454718T>CCA412663046DMDn.3754A>G
c.3547A>G (p.Arg1183Gly)
c.3535A>G (p.Arg1179Gly)
c.94-89519A>G (n.94-89519A>G)
c.94-90008A>G (n.94-90008A>G)
n.336-237655A>G
c.3523A>G (p.Arg1175Gly)
c.3178A>G (p.Arg1060Gly)
c.3418A>G (p.Arg1140Gly)
 ClinVar gnomAD v4
Xg.32454718T>GCA515715269DMDn.3754A>C
c.3547A>C (p.Arg1183=)
c.3535A>C (p.Arg1179=)
c.94-89519A>C (n.94-89519A>C)
c.94-90008A>C (n.94-90008A>C)
n.336-237655A>C
c.3523A>C (p.Arg1175=)
c.3178A>C (p.Arg1060=)
c.3418A>C (p.Arg1140=)
 gnomAD v4
Xg.32454719C>ACA412663048DMDn.3753G>T
c.3546G>T (p.Glu1182Asp)
c.3534G>T (p.Glu1178Asp)
c.94-89520G>T (n.94-89520G>T)
c.94-90009G>T (n.94-90009G>T)
n.336-237656G>T
c.3522G>T (p.Glu1174Asp)
c.3177G>T (p.Glu1059Asp)
c.3417G>T (p.Glu1139Asp)
 gnomAD v4
Xg.32454719C=CA2422811207DMDn.3753G=
c.3546G= (p.Glu1182=)
c.3534G= (p.Glu1178=)
c.94-89520G= (n.94-89520G=)
c.94-90009G= (n.94-90009G=)
n.336-237656G=
c.3522G= (p.Glu1174=)
c.3177G= (p.Glu1059=)
c.3417G= (p.Glu1139=)
Xg.32454719C>GCA412663050DMDn.3753G>C
c.3546G>C (p.Glu1182Asp)
c.3534G>C (p.Glu1178Asp)
c.94-89520G>C (n.94-89520G>C)
c.94-90009G>C (n.94-90009G>C)
n.336-237656G>C
c.3522G>C (p.Glu1174Asp)
c.3177G>C (p.Glu1059Asp)
c.3417G>C (p.Glu1139Asp)
Xg.32454719C>TCA515715270DMDn.3753G>A
c.3546G>A (p.Glu1182=)
c.3534G>A (p.Glu1178=)
c.94-89520G>A (n.94-89520G>A)
c.94-90009G>A (n.94-90009G>A)
n.336-237656G>A
c.3522G>A (p.Glu1174=)
c.3177G>A (p.Glu1059=)
c.3417G>A (p.Glu1139=)
 ClinVar dbSNP
Xg.32454720T>ACA412663055DMDn.3752A>T
c.3545A>T (p.Glu1182Val)
c.3533A>T (p.Glu1178Val)
c.94-89521A>T (n.94-89521A>T)
c.94-90010A>T (n.94-90010A>T)
n.336-237657A>T
c.3521A>T (p.Glu1174Val)
c.3176A>T (p.Glu1059Val)
c.3416A>T (p.Glu1139Val)
Xg.32454720T>CCA412663057DMDn.3752A>G
c.3545A>G (p.Glu1182Gly)
c.3533A>G (p.Glu1178Gly)
c.94-89521A>G (n.94-89521A>G)
c.94-90010A>G (n.94-90010A>G)
n.336-237657A>G
c.3521A>G (p.Glu1174Gly)
c.3176A>G (p.Glu1059Gly)
c.3416A>G (p.Glu1139Gly)
Xg.32454720T>GCA412663054DMDn.3752A>C
c.3545A>C (p.Glu1182Ala)
c.3533A>C (p.Glu1178Ala)
c.94-89521A>C (n.94-89521A>C)
c.94-90010A>C (n.94-90010A>C)
n.336-237657A>C
c.3521A>C (p.Glu1174Ala)
c.3176A>C (p.Glu1059Ala)
c.3416A>C (p.Glu1139Ala)
Xg.32454721C>ACA412663060DMDn.3751G>T
c.3544G>T (p.Glu1182Ter)
c.3532G>T (p.Glu1178Ter)
c.94-89522G>T (n.94-89522G>T)
c.94-90011G>T (n.94-90011G>T)
n.336-237658G>T
c.3520G>T (p.Glu1174Ter)
c.3175G>T (p.Glu1059Ter)
c.3415G>T (p.Glu1139Ter)
 ClinVar dbSNP
Xg.32454721C>GCA412663062DMDn.3751G>C
c.3544G>C (p.Glu1182Gln)
c.3532G>C (p.Glu1178Gln)
c.94-89522G>C (n.94-89522G>C)
c.94-90011G>C (n.94-90011G>C)
n.336-237658G>C
c.3520G>C (p.Glu1174Gln)
c.3175G>C (p.Glu1059Gln)
c.3415G>C (p.Glu1139Gln)
Xg.32454721C>TCA412663064DMDn.3751G>A
c.3544G>A (p.Glu1182Lys)
c.3532G>A (p.Glu1178Lys)
c.94-89522G>A (n.94-89522G>A)
c.94-90011G>A (n.94-90011G>A)
n.336-237658G>A
c.3520G>A (p.Glu1174Lys)
c.3175G>A (p.Glu1059Lys)
c.3415G>A (p.Glu1139Lys)
Xg.32454722A>CCA515715273DMDn.3750T>G
c.3543T>G (p.Leu1181=)
c.3531T>G (p.Leu1177=)
c.94-89523T>G (n.94-89523T>G)
c.94-90012T>G (n.94-90012T>G)
n.336-237659T>G
c.3519T>G (p.Leu1173=)
c.3174T>G (p.Leu1058=)
c.3414T>G (p.Leu1138=)
Xg.32454722A>GCA515715272DMDn.3750T>C
c.3543T>C (p.Leu1181=)
c.3531T>C (p.Leu1177=)
c.94-89523T>C (n.94-89523T>C)
c.94-90012T>C (n.94-90012T>C)
n.336-237659T>C
c.3519T>C (p.Leu1173=)
c.3174T>C (p.Leu1058=)
c.3414T>C (p.Leu1138=)
Xg.32454722A>TCA515715271DMDn.3750T>A
c.3543T>A (p.Leu1181=)
c.3531T>A (p.Leu1177=)
c.94-89523T>A (n.94-89523T>A)
c.94-90012T>A (n.94-90012T>A)
n.336-237659T>A
c.3519T>A (p.Leu1173=)
c.3174T>A (p.Leu1058=)
c.3414T>A (p.Leu1138=)
Xg.32454723A=CA2422811208DMDn.3749T=
c.3542T= (p.Leu1181=)
c.3530T= (p.Leu1177=)
c.94-89524T= (n.94-89524T=)
c.94-90013T= (n.94-90013T=)
n.336-237660T=
c.3518T= (p.Leu1173=)
c.3173T= (p.Leu1058=)
c.3413T= (p.Leu1138=)
Xg.32454723A>CCA412663067DMDn.3749T>G
c.3542T>G (p.Leu1181Arg)
c.3530T>G (p.Leu1177Arg)
c.94-89524T>G (n.94-89524T>G)
c.94-90013T>G (n.94-90013T>G)
n.336-237660T>G
c.3518T>G (p.Leu1173Arg)
c.3173T>G (p.Leu1058Arg)
c.3413T>G (p.Leu1138Arg)
 dbSNP
Xg.32454723A>GCA412663069DMDn.3749T>C
c.3542T>C (p.Leu1181Pro)
c.3530T>C (p.Leu1177Pro)
c.94-89524T>C (n.94-89524T>C)
c.94-90013T>C (n.94-90013T>C)
n.336-237660T>C
c.3518T>C (p.Leu1173Pro)
c.3173T>C (p.Leu1058Pro)
c.3413T>C (p.Leu1138Pro)
Xg.32454723A>TCA412663071DMDn.3749T>A
c.3542T>A (p.Leu1181His)
c.3530T>A (p.Leu1177His)
c.94-89524T>A (n.94-89524T>A)
c.94-90013T>A (n.94-90013T>A)
n.336-237660T>A
c.3518T>A (p.Leu1173His)
c.3173T>A (p.Leu1058His)
c.3413T>A (p.Leu1138His)
Xg.32454724G>ACA10379250DMDn.3748C>T
c.3541C>T (p.Leu1181Phe)
c.3529C>T (p.Leu1177Phe)
c.94-89525C>T (n.94-89525C>T)
c.94-90014C>T (n.94-90014C>T)
n.336-237661C>T
c.3517C>T (p.Leu1173Phe)
c.3172C>T (p.Leu1058Phe)
c.3412C>T (p.Leu1138Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454724G>CCA412663077DMDn.3748C>G
c.3541C>G (p.Leu1181Val)
c.3529C>G (p.Leu1177Val)
c.94-89525C>G (n.94-89525C>G)
c.94-90014C>G (n.94-90014C>G)
n.336-237661C>G
c.3517C>G (p.Leu1173Val)
c.3172C>G (p.Leu1058Val)
c.3412C>G (p.Leu1138Val)
Xg.32454724G=CA2422811209DMDn.3748C=
c.3541C= (p.Leu1181=)
c.3529C= (p.Leu1177=)
c.94-89525C= (n.94-89525C=)
c.94-90014C= (n.94-90014C=)
n.336-237661C=
c.3517C= (p.Leu1173=)
c.3172C= (p.Leu1058=)
c.3412C= (p.Leu1138=)
Xg.32454724G>TCA412663075DMDn.3748C>A
c.3541C>A (p.Leu1181Ile)
c.3529C>A (p.Leu1177Ile)
c.94-89525C>A (n.94-89525C>A)
c.94-90014C>A (n.94-90014C>A)
n.336-237661C>A
c.3517C>A (p.Leu1173Ile)
c.3172C>A (p.Leu1058Ile)
c.3412C>A (p.Leu1138Ile)
 gnomAD v4
Xg.32454725A>CCA412663080DMDn.3747T>G
c.3540T>G (p.Tyr1180Ter)
c.3528T>G (p.Tyr1176Ter)
c.94-89526T>G (n.94-89526T>G)
c.94-90015T>G (n.94-90015T>G)
n.336-237662T>G
c.3516T>G (p.Tyr1172Ter)
c.3171T>G (p.Tyr1057Ter)
c.3411T>G (p.Tyr1137Ter)
Xg.32454725A>GCA515715274DMDn.3747T>C
c.3540T>C (p.Tyr1180=)
c.3528T>C (p.Tyr1176=)
c.94-89526T>C (n.94-89526T>C)
c.94-90015T>C (n.94-90015T>C)
n.336-237662T>C
c.3516T>C (p.Tyr1172=)
c.3171T>C (p.Tyr1057=)
c.3411T>C (p.Tyr1137=)
Xg.32454725A>TCA412663082DMDn.3747T>A
c.3540T>A (p.Tyr1180Ter)
c.3528T>A (p.Tyr1176Ter)
c.94-89526T>A (n.94-89526T>A)
c.94-90015T>A (n.94-90015T>A)
n.336-237662T>A
c.3516T>A (p.Tyr1172Ter)
c.3171T>A (p.Tyr1057Ter)
c.3411T>A (p.Tyr1137Ter)
 COSMIC COSMIC COSMIC
Xg.32454726T>ACA412663085DMDn.3746A>T
c.3539A>T (p.Tyr1180Phe)
c.3527A>T (p.Tyr1176Phe)
c.94-89527A>T (n.94-89527A>T)
c.94-90016A>T (n.94-90016A>T)
n.336-237663A>T
c.3515A>T (p.Tyr1172Phe)
c.3170A>T (p.Tyr1057Phe)
c.3410A>T (p.Tyr1137Phe)
Xg.32454726T>CCA412663086DMDn.3746A>G
c.3539A>G (p.Tyr1180Cys)
c.3527A>G (p.Tyr1176Cys)
c.94-89527A>G (n.94-89527A>G)
c.94-90016A>G (n.94-90016A>G)
n.336-237663A>G
c.3515A>G (p.Tyr1172Cys)
c.3170A>G (p.Tyr1057Cys)
c.3410A>G (p.Tyr1137Cys)
Xg.32454726T>GCA412663089DMDn.3746A>C
c.3539A>C (p.Tyr1180Ser)
c.3527A>C (p.Tyr1176Ser)
c.94-89527A>C (n.94-89527A>C)
c.94-90016A>C (n.94-90016A>C)
n.336-237663A>C
c.3515A>C (p.Tyr1172Ser)
c.3170A>C (p.Tyr1057Ser)
c.3410A>C (p.Tyr1137Ser)
Xg.32454727_32454735dupCA2695231953DMDn.3738_3746dup
c.3531_3539dup (p.Tyr1180Ter)
c.3519_3527dup (p.Tyr1176Ter)
c.94-89535_94-89527dup (n.94-89535_94-89527dup)
c.94-90024_94-90016dup (n.94-90024_94-90016dup)
n.336-237671_336-237663dup
c.3507_3515dup (p.Tyr1172Ter)
c.3162_3170dup (p.Tyr1057Ter)
c.3402_3410dup (p.Tyr1137Ter)
Xg.32454727A=CA2422811210DMDn.3745T=
c.3538T= (p.Tyr1180=)
c.3526T= (p.Tyr1176=)
c.94-89528T= (n.94-89528T=)
c.94-90017T= (n.94-90017T=)
n.336-237664T=
c.3514T= (p.Tyr1172=)
c.3169T= (p.Tyr1057=)
c.3409T= (p.Tyr1137=)
Xg.32454727A>CCA412663092DMDn.3745T>G
c.3538T>G (p.Tyr1180Asp)
c.3526T>G (p.Tyr1176Asp)
c.94-89528T>G (n.94-89528T>G)
c.94-90017T>G (n.94-90017T>G)
n.336-237664T>G
c.3514T>G (p.Tyr1172Asp)
c.3169T>G (p.Tyr1057Asp)
c.3409T>G (p.Tyr1137Asp)
Xg.32454727A>GCA412663094DMDn.3745T>C
c.3538T>C (p.Tyr1180His)
c.3526T>C (p.Tyr1176His)
c.94-89528T>C (n.94-89528T>C)
c.94-90017T>C (n.94-90017T>C)
n.336-237664T>C
c.3514T>C (p.Tyr1172His)
c.3169T>C (p.Tyr1057His)
c.3409T>C (p.Tyr1137His)
Xg.32454727A>TCA10379251DMDn.3745T>A
c.3538T>A (p.Tyr1180Asn)
c.3526T>A (p.Tyr1176Asn)
c.94-89528T>A (n.94-89528T>A)
c.94-90017T>A (n.94-90017T>A)
n.336-237664T>A
c.3514T>A (p.Tyr1172Asn)
c.3169T>A (p.Tyr1057Asn)
c.3409T>A (p.Tyr1137Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454728C>ACA412663100DMDn.3744G>T
c.3537G>T (p.Glu1179Asp)
c.3525G>T (p.Glu1175Asp)
c.94-89529G>T (n.94-89529G>T)
c.94-90018G>T (n.94-90018G>T)
n.336-237665G>T
c.3513G>T (p.Glu1171Asp)
c.3168G>T (p.Glu1056Asp)
c.3408G>T (p.Glu1136Asp)
 ClinVar dbSNP gnomAD v4
Xg.32454728C=CA2422811212DMDn.3744G=
c.3537G= (p.Glu1179=)
c.3525G= (p.Glu1175=)
c.94-89529G= (n.94-89529G=)
c.94-90018G= (n.94-90018G=)
n.336-237665G=
c.3513G= (p.Glu1171=)
c.3168G= (p.Glu1056=)
c.3408G= (p.Glu1136=)
Xg.32454728C>GCA412663097DMDn.3744G>C
c.3537G>C (p.Glu1179Asp)
c.3525G>C (p.Glu1175Asp)
c.94-89529G>C (n.94-89529G>C)
c.94-90018G>C (n.94-90018G>C)
n.336-237665G>C
c.3513G>C (p.Glu1171Asp)
c.3168G>C (p.Glu1056Asp)
c.3408G>C (p.Glu1136Asp)
Xg.32454728C>TCA515715276DMDn.3744G>A
c.3537G>A (p.Glu1179=)
c.3525G>A (p.Glu1175=)
c.94-89529G>A (n.94-89529G>A)
c.94-90018G>A (n.94-90018G>A)
n.336-237665G>A
c.3513G>A (p.Glu1171=)
c.3168G>A (p.Glu1056=)
c.3408G>A (p.Glu1136=)
 ClinVar dbSNP
Xg.32454728_32454732delinsCTCTTCA2422811211DMDn.3740_3744delinsAAGAG
c.3533_3537delinsAAGAG (p.Glu1178=)
c.3521_3525delinsAAGAG (p.Glu1174=)
c.94-89533_94-89529delinsAAGAG (n.94-89533_94-89529delinsAAGAG)
c.94-90022_94-90018delinsAAGAG (n.94-90022_94-90018delinsAAGAG)
n.336-237669_336-237665delinsAAGAG
c.3509_3513delinsAAGAG (p.Glu1170=)
c.3164_3168delinsAAGAG (p.Glu1055=)
c.3404_3408delinsAAGAG (p.Glu1135=)
Xg.32454729T>ACA412663107DMDn.3743A>T
c.3536A>T (p.Glu1179Val)
c.3524A>T (p.Glu1175Val)
c.94-89530A>T (n.94-89530A>T)
c.94-90019A>T (n.94-90019A>T)
n.336-237666A>T
c.3512A>T (p.Glu1171Val)
c.3167A>T (p.Glu1056Val)
c.3407A>T (p.Glu1136Val)
Xg.32454729T>CCA412663103DMDn.3743A>G
c.3536A>G (p.Glu1179Gly)
c.3524A>G (p.Glu1175Gly)
c.94-89530A>G (n.94-89530A>G)
c.94-90019A>G (n.94-90019A>G)
n.336-237666A>G
c.3512A>G (p.Glu1171Gly)
c.3167A>G (p.Glu1056Gly)
c.3407A>G (p.Glu1136Gly)
 ClinVar
Xg.32454729T>GCA412663105DMDn.3743A>C
c.3536A>C (p.Glu1179Ala)
c.3524A>C (p.Glu1175Ala)
c.94-89530A>C (n.94-89530A>C)
c.94-90019A>C (n.94-90019A>C)
n.336-237666A>C
c.3512A>C (p.Glu1171Ala)
c.3167A>C (p.Glu1056Ala)
c.3407A>C (p.Glu1136Ala)
Xg.32454729_32454732delCA915950835DMDn.3740_3743del
c.3533_3536del (p.Glu1178GlyfsTer22)
c.3521_3524del (p.Glu1174GlyfsTer22)
c.94-89533_94-89530del (n.94-89533_94-89530del)
c.94-90022_94-90019del (n.94-90022_94-90019del)
n.336-237669_336-237666del
c.3509_3512del (p.Glu1170GlyfsTer22)
c.3164_3167del (p.Glu1055GlyfsTer22)
c.3404_3407del (p.Glu1135GlyfsTer22)
 ClinVar dbSNP
Xg.32454734_32454736delCA2820327611DMDn.3741_3743del
c.3534_3536del (p.Glu1179del)
c.3522_3524del (p.Glu1175del)
c.94-89532_94-89530del (n.94-89532_94-89530del)
c.94-90021_94-90019del (n.94-90021_94-90019del)
n.336-237668_336-237666del
c.3510_3512del (p.Glu1171del)
c.3165_3167del (p.Glu1056del)
c.3405_3407del (p.Glu1136del)
Xg.32454730C>ACA275141DMDn.3742G>T
c.3535G>T (p.Glu1179Ter)
c.3523G>T (p.Glu1175Ter)
c.94-89531G>T (n.94-89531G>T)
c.94-90020G>T (n.94-90020G>T)
n.336-237667G>T
c.3511G>T (p.Glu1171Ter)
c.3166G>T (p.Glu1056Ter)
c.3406G>T (p.Glu1136Ter)
 ClinVar dbSNP
Xg.32454730C=CA2422811213DMDn.3742G=
c.3535G= (p.Glu1179=)
c.3523G= (p.Glu1175=)
c.94-89531G= (n.94-89531G=)
c.94-90020G= (n.94-90020G=)
n.336-237667G=
c.3511G= (p.Glu1171=)
c.3166G= (p.Glu1056=)
c.3406G= (p.Glu1136=)
Xg.32454730C>GCA412663110DMDn.3742G>C
c.3535G>C (p.Glu1179Gln)
c.3523G>C (p.Glu1175Gln)
c.94-89531G>C (n.94-89531G>C)
c.94-90020G>C (n.94-90020G>C)
n.336-237667G>C
c.3511G>C (p.Glu1171Gln)
c.3166G>C (p.Glu1056Gln)
c.3406G>C (p.Glu1136Gln)
Xg.32454730C>TCA412663112DMDn.3742G>A
c.3535G>A (p.Glu1179Lys)
c.3523G>A (p.Glu1175Lys)
c.94-89531G>A (n.94-89531G>A)
c.94-90020G>A (n.94-90020G>A)
n.336-237667G>A
c.3511G>A (p.Glu1171Lys)
c.3166G>A (p.Glu1056Lys)
c.3406G>A (p.Glu1136Lys)
 dbSNP
Xg.32454731T>ACA412663115DMDn.3741A>T
c.3534A>T (p.Glu1178Asp)
c.3522A>T (p.Glu1174Asp)
c.94-89532A>T (n.94-89532A>T)
c.94-90021A>T (n.94-90021A>T)
n.336-237668A>T
c.3510A>T (p.Glu1170Asp)
c.3165A>T (p.Glu1055Asp)
c.3405A>T (p.Glu1135Asp)
Xg.32454731T>CCA327997002DMDn.3741A>G
c.3534A>G (p.Glu1178=)
c.3522A>G (p.Glu1174=)
c.94-89532A>G (n.94-89532A>G)
c.94-90021A>G (n.94-90021A>G)
n.336-237668A>G
c.3510A>G (p.Glu1170=)
c.3165A>G (p.Glu1055=)
c.3405A>G (p.Glu1135=)
 ClinVar dbSNP
Xg.32454731T>GCA412663117DMDn.3741A>C
c.3534A>C (p.Glu1178Asp)
c.3522A>C (p.Glu1174Asp)
c.94-89532A>C (n.94-89532A>C)
c.94-90021A>C (n.94-90021A>C)
n.336-237668A>C
c.3510A>C (p.Glu1170Asp)
c.3165A>C (p.Glu1055Asp)
c.3405A>C (p.Glu1135Asp)
Xg.32454731T=CA2422811214DMDn.3741A=
c.3534A= (p.Glu1178=)
c.3522A= (p.Glu1174=)
c.94-89532A= (n.94-89532A=)
c.94-90021A= (n.94-90021A=)
n.336-237668A=
c.3510A= (p.Glu1170=)
c.3165A= (p.Glu1055=)
c.3405A= (p.Glu1135=)
Xg.32454732T>ACA412663118DMDn.3740A>T
c.3533A>T (p.Glu1178Val)
c.3521A>T (p.Glu1174Val)
c.94-89533A>T (n.94-89533A>T)
c.94-90022A>T (n.94-90022A>T)
n.336-237669A>T
c.3509A>T (p.Glu1170Val)
c.3164A>T (p.Glu1055Val)
c.3404A>T (p.Glu1135Val)
Xg.32454732T>CCA412663120DMDn.3740A>G
c.3533A>G (p.Glu1178Gly)
c.3521A>G (p.Glu1174Gly)
c.94-89533A>G (n.94-89533A>G)
c.94-90022A>G (n.94-90022A>G)
n.336-237669A>G
c.3509A>G (p.Glu1170Gly)
c.3164A>G (p.Glu1055Gly)
c.3404A>G (p.Glu1135Gly)
 gnomAD v4
Xg.32454732T>GCA412663122DMDn.3740A>C
c.3533A>C (p.Glu1178Ala)
c.3521A>C (p.Glu1174Ala)
c.94-89533A>C (n.94-89533A>C)
c.94-90022A>C (n.94-90022A>C)
n.336-237669A>C
c.3509A>C (p.Glu1170Ala)
c.3164A>C (p.Glu1055Ala)
c.3404A>C (p.Glu1135Ala)
 dbSNP
Xg.32454732T=CA2422811215DMDn.3740A=
c.3533A= (p.Glu1178=)
c.3521A= (p.Glu1174=)
c.94-89533A= (n.94-89533A=)
c.94-90022A= (n.94-90022A=)
n.336-237669A=
c.3509A= (p.Glu1170=)
c.3164A= (p.Glu1055=)
c.3404A= (p.Glu1135=)
Xg.32454733C>ACA273307DMDn.3739G>T
c.3532G>T (p.Glu1178Ter)
c.3520G>T (p.Glu1174Ter)
c.94-89534G>T (n.94-89534G>T)
c.94-90023G>T (n.94-90023G>T)
n.336-237670G>T
c.3508G>T (p.Glu1170Ter)
c.3163G>T (p.Glu1055Ter)
c.3403G>T (p.Glu1135Ter)
 ClinVar dbSNP
Xg.32454733C=CA2422811216DMDn.3739G=
c.3532G= (p.Glu1178=)
c.3520G= (p.Glu1174=)
c.94-89534G= (n.94-89534G=)
c.94-90023G= (n.94-90023G=)
n.336-237670G=
c.3508G= (p.Glu1170=)
c.3163G= (p.Glu1055=)
c.3403G= (p.Glu1135=)
Xg.32454733C>GCA412663128DMDn.3739G>C
c.3532G>C (p.Glu1178Gln)
c.3520G>C (p.Glu1174Gln)
c.94-89534G>C (n.94-89534G>C)
c.94-90023G>C (n.94-90023G>C)
n.336-237670G>C
c.3508G>C (p.Glu1170Gln)
c.3163G>C (p.Glu1055Gln)
c.3403G>C (p.Glu1135Gln)
Xg.32454733C>TCA412663125DMDn.3739G>A
c.3532G>A (p.Glu1178Lys)
c.3520G>A (p.Glu1174Lys)
c.94-89534G>A (n.94-89534G>A)
c.94-90023G>A (n.94-90023G>A)
n.336-237670G>A
c.3508G>A (p.Glu1170Lys)
c.3163G>A (p.Glu1055Lys)
c.3403G>A (p.Glu1135Lys)
 gnomAD v4
Xg.32454734T>ACA412663130DMDn.3738A>T
c.3531A>T (p.Glu1177Asp)
c.3519A>T (p.Glu1173Asp)
c.94-89535A>T (n.94-89535A>T)
c.94-90024A>T (n.94-90024A>T)
n.336-237671A>T
c.3507A>T (p.Glu1169Asp)
c.3162A>T (p.Glu1054Asp)
c.3402A>T (p.Glu1134Asp)
Xg.32454734T>CCA10379252DMDn.3738A>G
c.3531A>G (p.Glu1177=)
c.3519A>G (p.Glu1173=)
c.94-89535A>G (n.94-89535A>G)
c.94-90024A>G (n.94-90024A>G)
n.336-237671A>G
c.3507A>G (p.Glu1169=)
c.3162A>G (p.Glu1054=)
c.3402A>G (p.Glu1134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32454734T>GCA412663134DMDn.3738A>C
c.3531A>C (p.Glu1177Asp)
c.3519A>C (p.Glu1173Asp)
c.94-89535A>C (n.94-89535A>C)
c.94-90024A>C (n.94-90024A>C)
n.336-237671A>C
c.3507A>C (p.Glu1169Asp)
c.3162A>C (p.Glu1054Asp)
c.3402A>C (p.Glu1134Asp)
Xg.32454734T=CA2422811217DMDn.3738A=
c.3531A= (p.Glu1177=)
c.3519A= (p.Glu1173=)
c.94-89535A= (n.94-89535A=)
c.94-90024A= (n.94-90024A=)
n.336-237671A=
c.3507A= (p.Glu1169=)
c.3162A= (p.Glu1054=)
c.3402A= (p.Glu1134=)
Xg.32454735T>ACA412663136DMDn.3737A>T
c.3530A>T (p.Glu1177Val)
c.3518A>T (p.Glu1173Val)
c.94-89536A>T (n.94-89536A>T)
c.94-90025A>T (n.94-90025A>T)
n.336-237672A>T
c.3506A>T (p.Glu1169Val)
c.3161A>T (p.Glu1054Val)
c.3401A>T (p.Glu1134Val)
 gnomAD v4
Xg.32454735T>CCA412663139DMDn.3737A>G
c.3530A>G (p.Glu1177Gly)
c.3518A>G (p.Glu1173Gly)
c.94-89536A>G (n.94-89536A>G)
c.94-90025A>G (n.94-90025A>G)
n.336-237672A>G
c.3506A>G (p.Glu1169Gly)
c.3161A>G (p.Glu1054Gly)
c.3401A>G (p.Glu1134Gly)
Xg.32454735T>GCA412663140DMDn.3737A>C
c.3530A>C (p.Glu1177Ala)
c.3518A>C (p.Glu1173Ala)
c.94-89536A>C (n.94-89536A>C)
c.94-90025A>C (n.94-90025A>C)
n.336-237672A>C
c.3506A>C (p.Glu1169Ala)
c.3161A>C (p.Glu1054Ala)
c.3401A>C (p.Glu1134Ala)
Xg.32454736C>ACA412663143DMDn.3736G>T
c.3529G>T (p.Glu1177Ter)
c.3517G>T (p.Glu1173Ter)
c.94-89537G>T (n.94-89537G>T)
c.94-90026G>T (n.94-90026G>T)
n.336-237673G>T
c.3505G>T (p.Glu1169Ter)
c.3160G>T (p.Glu1054Ter)
c.3400G>T (p.Glu1134Ter)
Xg.32454736C>GCA412663145DMDn.3736G>C
c.3529G>C (p.Glu1177Gln)
c.3517G>C (p.Glu1173Gln)
c.94-89537G>C (n.94-89537G>C)
c.94-90026G>C (n.94-90026G>C)
n.336-237673G>C
c.3505G>C (p.Glu1169Gln)
c.3160G>C (p.Glu1054Gln)
c.3400G>C (p.Glu1134Gln)
Xg.32454736C>TCA412663146DMDn.3736G>A
c.3529G>A (p.Glu1177Lys)
c.3517G>A (p.Glu1173Lys)
c.94-89537G>A (n.94-89537G>A)
c.94-90026G>A (n.94-90026G>A)
n.336-237673G>A
c.3505G>A (p.Glu1169Lys)
c.3160G>A (p.Glu1054Lys)
c.3400G>A (p.Glu1134Lys)
Xg.32454737A>CCA515715284DMDn.3735T>G
c.3528T>G (p.Ala1176=)
c.3516T>G (p.Ala1172=)
c.94-89538T>G (n.94-89538T>G)
c.94-90027T>G (n.94-90027T>G)
n.336-237674T>G
c.3504T>G (p.Ala1168=)
c.3159T>G (p.Ala1053=)
c.3399T>G (p.Ala1133=)
Xg.32454737A>GCA515715285DMDn.3735T>C
c.3528T>C (p.Ala1176=)
c.3516T>C (p.Ala1172=)
c.94-89538T>C (n.94-89538T>C)
c.94-90027T>C (n.94-90027T>C)
n.336-237674T>C
c.3504T>C (p.Ala1168=)
c.3159T>C (p.Ala1053=)
c.3399T>C (p.Ala1133=)
 gnomAD v4
Xg.32454737A>TCA515715286DMDn.3735T>A
c.3528T>A (p.Ala1176=)
c.3516T>A (p.Ala1172=)
c.94-89538T>A (n.94-89538T>A)
c.94-90027T>A (n.94-90027T>A)
n.336-237674T>A
c.3504T>A (p.Ala1168=)
c.3159T>A (p.Ala1053=)
c.3399T>A (p.Ala1133=)
Xg.32454738G>ACA412663149DMDn.3734C>T
c.3527C>T (p.Ala1176Val)
c.3515C>T (p.Ala1172Val)
c.94-89539C>T (n.94-89539C>T)
c.94-90028C>T (n.94-90028C>T)
n.336-237675C>T
c.3503C>T (p.Ala1168Val)
c.3158C>T (p.Ala1053Val)
c.3398C>T (p.Ala1133Val)
Xg.32454738G>CCA412663150DMDn.3734C>G
c.3527C>G (p.Ala1176Gly)
c.3515C>G (p.Ala1172Gly)
c.94-89539C>G (n.94-89539C>G)
c.94-90028C>G (n.94-90028C>G)
n.336-237675C>G
c.3503C>G (p.Ala1168Gly)
c.3158C>G (p.Ala1053Gly)
c.3398C>G (p.Ala1133Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.32454738G=CA2422811218DMDn.3734C=
c.3527C= (p.Ala1176=)
c.3515C= (p.Ala1172=)
c.94-89539C= (n.94-89539C=)
c.94-90028C= (n.94-90028C=)
n.336-237675C=
c.3503C= (p.Ala1168=)
c.3158C= (p.Ala1053=)
c.3398C= (p.Ala1133=)
Xg.32454738G>TCA412663153DMDn.3734C>A
c.3527C>A (p.Ala1176Asp)
c.3515C>A (p.Ala1172Asp)
c.94-89539C>A (n.94-89539C>A)
c.94-90028C>A (n.94-90028C>A)
n.336-237675C>A
c.3503C>A (p.Ala1168Asp)
c.3158C>A (p.Ala1053Asp)
c.3398C>A (p.Ala1133Asp)
 ClinVar dbSNP
Xg.32454739C>ACA412663159DMDn.3733G>T
c.3526G>T (p.Ala1176Ser)
c.3514G>T (p.Ala1172Ser)
c.94-89540G>T (n.94-89540G>T)
c.94-90029G>T (n.94-90029G>T)
n.336-237676G>T
c.3502G>T (p.Ala1168Ser)
c.3157G>T (p.Ala1053Ser)
c.3397G>T (p.Ala1133Ser)
Xg.32454739C>GCA412663161DMDn.3733G>C
c.3526G>C (p.Ala1176Pro)
c.3514G>C (p.Ala1172Pro)
c.94-89540G>C (n.94-89540G>C)
c.94-90029G>C (n.94-90029G>C)
n.336-237676G>C
c.3502G>C (p.Ala1168Pro)
c.3157G>C (p.Ala1053Pro)
c.3397G>C (p.Ala1133Pro)
Xg.32454739C>TCA412663157DMDn.3733G>A
c.3526G>A (p.Ala1176Thr)
c.3514G>A (p.Ala1172Thr)
c.94-89540G>A (n.94-89540G>A)
c.94-90029G>A (n.94-90029G>A)
n.336-237676G>A
c.3502G>A (p.Ala1168Thr)
c.3157G>A (p.Ala1053Thr)
c.3397G>A (p.Ala1133Thr)
Xg.32454740T>ACA412663164DMDn.3732A>T
c.3525A>T (p.Gln1175His)
c.3513A>T (p.Gln1171His)
c.94-89541A>T (n.94-89541A>T)
c.94-90030A>T (n.94-90030A>T)
n.336-237677A>T
c.3501A>T (p.Gln1167His)
c.3156A>T (p.Gln1052His)
c.3396A>T (p.Gln1132His)
 gnomAD v4
Xg.32454740T>CCA515715288DMDn.3732A>G
c.3525A>G (p.Gln1175=)
c.3513A>G (p.Gln1171=)
c.94-89541A>G (n.94-89541A>G)
c.94-90030A>G (n.94-90030A>G)
n.336-237677A>G
c.3501A>G (p.Gln1167=)
c.3156A>G (p.Gln1052=)
c.3396A>G (p.Gln1132=)
Xg.32454740T>GCA412663166DMDn.3732A>C
c.3525A>C (p.Gln1175His)
c.3513A>C (p.Gln1171His)
c.94-89541A>C (n.94-89541A>C)
c.94-90030A>C (n.94-90030A>C)
n.336-237677A>C
c.3501A>C (p.Gln1167His)
c.3156A>C (p.Gln1052His)
c.3396A>C (p.Gln1132His)
Xg.32454741T>ACA412663169DMDn.3731A>T
c.3524A>T (p.Gln1175Leu)
c.3512A>T (p.Gln1171Leu)
c.94-89542A>T (n.94-89542A>T)
c.94-90031A>T (n.94-90031A>T)
n.336-237678A>T
c.3500A>T (p.Gln1167Leu)
c.3155A>T (p.Gln1052Leu)
c.3395A>T (p.Gln1132Leu)
Xg.32454741T>CCA412663171DMDn.3731A>G
c.3524A>G (p.Gln1175Arg)
c.3512A>G (p.Gln1171Arg)
c.94-89542A>G (n.94-89542A>G)
c.94-90031A>G (n.94-90031A>G)
n.336-237678A>G
c.3500A>G (p.Gln1167Arg)
c.3155A>G (p.Gln1052Arg)
c.3395A>G (p.Gln1132Arg)
Xg.32454741T>GCA412663173DMDn.3731A>C
c.3524A>C (p.Gln1175Pro)
c.3512A>C (p.Gln1171Pro)
c.94-89542A>C (n.94-89542A>C)
c.94-90031A>C (n.94-90031A>C)
n.336-237678A>C
c.3500A>C (p.Gln1167Pro)
c.3155A>C (p.Gln1052Pro)
c.3395A>C (p.Gln1132Pro)
Xg.32454742delCA2507591474DMDn.3730del
c.3523del (p.Gln1175LysfsTer26)
c.3511del (p.Gln1171LysfsTer26)
c.94-89543del (n.94-89543del)
c.94-90032del (n.94-90032del)
n.336-237679del
c.3499del (p.Gln1167LysfsTer26)
c.3154del (p.Gln1052LysfsTer26)
c.3394del (p.Gln1132LysfsTer26)
Xg.32454742G>ACA412663180DMDn.3730C>T
c.3523C>T (p.Gln1175Ter)
c.3511C>T (p.Gln1171Ter)
c.94-89543C>T (n.94-89543C>T)
c.94-90032C>T (n.94-90032C>T)
n.336-237679C>T
c.3499C>T (p.Gln1167Ter)
c.3154C>T (p.Gln1052Ter)
c.3394C>T (p.Gln1132Ter)
 ClinVar
Xg.32454742G>CCA412663178DMDn.3730C>G
c.3523C>G (p.Gln1175Glu)
c.3511C>G (p.Gln1171Glu)
c.94-89543C>G (n.94-89543C>G)
c.94-90032C>G (n.94-90032C>G)
n.336-237679C>G
c.3499C>G (p.Gln1167Glu)
c.3154C>G (p.Gln1052Glu)
c.3394C>G (p.Gln1132Glu)
Xg.32454742G>TCA412663176DMDn.3730C>A
c.3523C>A (p.Gln1175Lys)
c.3511C>A (p.Gln1171Lys)
c.94-89543C>A (n.94-89543C>A)
c.94-90032C>A (n.94-90032C>A)
n.336-237679C>A
c.3499C>A (p.Gln1167Lys)
c.3154C>A (p.Gln1052Lys)
c.3394C>A (p.Gln1132Lys)
Xg.32454743T>ACA515715291DMDn.3729A>T
c.3522A>T (p.Thr1174=)
c.3510A>T (p.Thr1170=)
c.94-89544A>T (n.94-89544A>T)
c.94-90033A>T (n.94-90033A>T)
n.336-237680A>T
c.3498A>T (p.Thr1166=)
c.3153A>T (p.Thr1051=)
c.3393A>T (p.Thr1131=)
Xg.32454743T>CCA515715292DMDn.3729A>G
c.3522A>G (p.Thr1174=)
c.3510A>G (p.Thr1170=)
c.94-89544A>G (n.94-89544A>G)
c.94-90033A>G (n.94-90033A>G)
n.336-237680A>G
c.3498A>G (p.Thr1166=)
c.3153A>G (p.Thr1051=)
c.3393A>G (p.Thr1131=)
 ClinVar
Xg.32454743T>GCA515715293DMDn.3729A>C
c.3522A>C (p.Thr1174=)
c.3510A>C (p.Thr1170=)
c.94-89544A>C (n.94-89544A>C)
c.94-90033A>C (n.94-90033A>C)
n.336-237680A>C
c.3498A>C (p.Thr1166=)
c.3153A>C (p.Thr1051=)
c.3393A>C (p.Thr1131=)
Xg.32454744G>ACA412663183DMDn.3728C>T
c.3521C>T (p.Thr1174Ile)
c.3509C>T (p.Thr1170Ile)
c.94-89545C>T (n.94-89545C>T)
c.94-90034C>T (n.94-90034C>T)
n.336-237681C>T
c.3497C>T (p.Thr1166Ile)
c.3152C>T (p.Thr1051Ile)
c.3392C>T (p.Thr1131Ile)
 dbSNP
Xg.32454744G>CCA412663185DMDn.3728C>G
c.3521C>G (p.Thr1174Arg)
c.3509C>G (p.Thr1170Arg)
c.94-89545C>G (n.94-89545C>G)
c.94-90034C>G (n.94-90034C>G)
n.336-237681C>G
c.3497C>G (p.Thr1166Arg)
c.3152C>G (p.Thr1051Arg)
c.3392C>G (p.Thr1131Arg)
Xg.32454744G=CA2422811219DMDn.3728C=
c.3521C= (p.Thr1174=)
c.3509C= (p.Thr1170=)
c.94-89545C= (n.94-89545C=)
c.94-90034C= (n.94-90034C=)
n.336-237681C=
c.3497C= (p.Thr1166=)
c.3152C= (p.Thr1051=)
c.3392C= (p.Thr1131=)
Xg.32454744G>TCA412663187DMDn.3728C>A
c.3521C>A (p.Thr1174Lys)
c.3509C>A (p.Thr1170Lys)
c.94-89545C>A (n.94-89545C>A)
c.94-90034C>A (n.94-90034C>A)
n.336-237681C>A
c.3497C>A (p.Thr1166Lys)
c.3152C>A (p.Thr1051Lys)
c.3392C>A (p.Thr1131Lys)
Xg.32454745T>ACA412663190DMDn.3727A>T
c.3520A>T (p.Thr1174Ser)
c.3508A>T (p.Thr1170Ser)
c.94-89546A>T (n.94-89546A>T)
c.94-90035A>T (n.94-90035A>T)
n.336-237682A>T
c.3496A>T (p.Thr1166Ser)
c.3151A>T (p.Thr1051Ser)
c.3391A>T (p.Thr1131Ser)
Xg.32454745T>CCA412663192DMDn.3727A>G
c.3520A>G (p.Thr1174Ala)
c.3508A>G (p.Thr1170Ala)
c.94-89546A>G (n.94-89546A>G)
c.94-90035A>G (n.94-90035A>G)
n.336-237682A>G
c.3496A>G (p.Thr1166Ala)
c.3151A>G (p.Thr1051Ala)
c.3391A>G (p.Thr1131Ala)
 gnomAD v4
Xg.32454745T>GCA412663194DMDn.3727A>C
c.3520A>C (p.Thr1174Pro)
c.3508A>C (p.Thr1170Pro)
c.94-89546A>C (n.94-89546A>C)
c.94-90035A>C (n.94-90035A>C)
n.336-237682A>C
c.3496A>C (p.Thr1166Pro)
c.3151A>C (p.Thr1051Pro)
c.3391A>C (p.Thr1131Pro)
Xg.32454746C>ACA412663197DMDn.3726G>T
c.3519G>T (p.Met1173Ile)
c.3507G>T (p.Met1169Ile)
c.94-89547G>T (n.94-89547G>T)
c.94-90036G>T (n.94-90036G>T)
n.336-237683G>T
c.3495G>T (p.Met1165Ile)
c.3150G>T (p.Met1050Ile)
c.3390G>T (p.Met1130Ile)
 ClinVar dbSNP gnomAD v4
Xg.32454746C>GCA412663201DMDn.3726G>C
c.3519G>C (p.Met1173Ile)
c.3507G>C (p.Met1169Ile)
c.94-89547G>C (n.94-89547G>C)
c.94-90036G>C (n.94-90036G>C)
n.336-237683G>C
c.3495G>C (p.Met1165Ile)
c.3150G>C (p.Met1050Ile)
c.3390G>C (p.Met1130Ile)
Xg.32454746C>TCA412663199DMDn.3726G>A
c.3519G>A (p.Met1173Ile)
c.3507G>A (p.Met1169Ile)
c.94-89547G>A (n.94-89547G>A)
c.94-90036G>A (n.94-90036G>A)
n.336-237683G>A
c.3495G>A (p.Met1165Ile)
c.3150G>A (p.Met1050Ile)
c.3390G>A (p.Met1130Ile)
Xg.32454746_32454750dupCA2573158578DMDn.3722_3726dup
c.3515_3519dup (p.Thr1174GlyfsTer2)
c.3503_3507dup (p.Thr1170GlyfsTer2)
c.94-89551_94-89547dup (n.94-89551_94-89547dup)
c.94-90040_94-90036dup (n.94-90040_94-90036dup)
n.336-237687_336-237683dup
c.3491_3495dup (p.Thr1166GlyfsTer2)
c.3146_3150dup (p.Thr1051GlyfsTer2)
c.3386_3390dup (p.Thr1131GlyfsTer2)
 ClinVar dbSNP
Xg.32454747A>CCA412663204DMDn.3725T>G
c.3518T>G (p.Met1173Arg)
c.3506T>G (p.Met1169Arg)
c.94-89548T>G (n.94-89548T>G)
c.94-90037T>G (n.94-90037T>G)
n.336-237684T>G
c.3494T>G (p.Met1165Arg)
c.3149T>G (p.Met1050Arg)
c.3389T>G (p.Met1130Arg)
Xg.32454747A>GCA412663206DMDn.3725T>C
c.3518T>C (p.Met1173Thr)
c.3506T>C (p.Met1169Thr)
c.94-89548T>C (n.94-89548T>C)
c.94-90037T>C (n.94-90037T>C)
n.336-237684T>C
c.3494T>C (p.Met1165Thr)
c.3149T>C (p.Met1050Thr)
c.3389T>C (p.Met1130Thr)
Xg.32454747A>TCA412663208DMDn.3725T>A
c.3518T>A (p.Met1173Lys)
c.3506T>A (p.Met1169Lys)
c.94-89548T>A (n.94-89548T>A)
c.94-90037T>A (n.94-90037T>A)
n.336-237684T>A
c.3494T>A (p.Met1165Lys)
c.3149T>A (p.Met1050Lys)
c.3389T>A (p.Met1130Lys)
 gnomAD v4
Xg.32454748T>ACA412663211DMDn.3724A>T
c.3517A>T (p.Met1173Leu)
c.3505A>T (p.Met1169Leu)
c.94-89549A>T (n.94-89549A>T)
c.94-90038A>T (n.94-90038A>T)
n.336-237685A>T
c.3493A>T (p.Met1165Leu)
c.3148A>T (p.Met1050Leu)
c.3388A>T (p.Met1130Leu)
Xg.32454748T>CCA412663213DMDn.3724A>G
c.3517A>G (p.Met1173Val)
c.3505A>G (p.Met1169Val)
c.94-89549A>G (n.94-89549A>G)
c.94-90038A>G (n.94-90038A>G)
n.336-237685A>G
c.3493A>G (p.Met1165Val)
c.3148A>G (p.Met1050Val)
c.3388A>G (p.Met1130Val)
Xg.32454748T>GCA412663215DMDn.3724A>C
c.3517A>C (p.Met1173Leu)
c.3505A>C (p.Met1169Leu)
c.94-89549A>C (n.94-89549A>C)
c.94-90038A>C (n.94-90038A>C)
n.336-237685A>C
c.3493A>C (p.Met1165Leu)
c.3148A>C (p.Met1050Leu)
c.3388A>C (p.Met1130Leu)
Xg.32454749C>ACA327997017DMDn.3723G>T
c.3516G>T (p.Trp1172Cys)
c.3504G>T (p.Trp1168Cys)
c.94-89550G>T (n.94-89550G>T)
c.94-90039G>T (n.94-90039G>T)
n.336-237686G>T
c.3492G>T (p.Trp1164Cys)
c.3147G>T (p.Trp1049Cys)
c.3387G>T (p.Trp1129Cys)
 dbSNP
Xg.32454749C=CA2422811220DMDn.3723G=
c.3516G= (p.Trp1172=)
c.3504G= (p.Trp1168=)
c.94-89550G= (n.94-89550G=)
c.94-90039G= (n.94-90039G=)
n.336-237686G=
c.3492G= (p.Trp1164=)
c.3147G= (p.Trp1049=)
c.3387G= (p.Trp1129=)
Xg.32454749C>GCA412663220DMDn.3723G>C
c.3516G>C (p.Trp1172Cys)
c.3504G>C (p.Trp1168Cys)
c.94-89550G>C (n.94-89550G>C)
c.94-90039G>C (n.94-90039G>C)
n.336-237686G>C
c.3492G>C (p.Trp1164Cys)
c.3147G>C (p.Trp1049Cys)
c.3387G>C (p.Trp1129Cys)
Xg.32454749C>TCA412663222DMDn.3723G>A
c.3516G>A (p.Trp1172Ter)
c.3504G>A (p.Trp1168Ter)
c.94-89550G>A (n.94-89550G>A)
c.94-90039G>A (n.94-90039G>A)
n.336-237686G>A
c.3492G>A (p.Trp1164Ter)
c.3147G>A (p.Trp1049Ter)
c.3387G>A (p.Trp1129Ter)
 ClinVar dbSNP
Xg.32454750C>ACA412663225DMDn.3722G>T
c.3515G>T (p.Trp1172Leu)
c.3503G>T (p.Trp1168Leu)
c.94-89551G>T (n.94-89551G>T)
c.94-90040G>T (n.94-90040G>T)
n.336-237687G>T
c.3491G>T (p.Trp1164Leu)
c.3146G>T (p.Trp1049Leu)
c.3386G>T (p.Trp1129Leu)
 gnomAD v3 gnomAD v4
Xg.32454750C>GCA412663227DMDn.3722G>C
c.3515G>C (p.Trp1172Ser)
c.3503G>C (p.Trp1168Ser)
c.94-89551G>C (n.94-89551G>C)
c.94-90040G>C (n.94-90040G>C)
n.336-237687G>C
c.3491G>C (p.Trp1164Ser)
c.3146G>C (p.Trp1049Ser)
c.3386G>C (p.Trp1129Ser)
Xg.32454750C>TCA412663229DMDn.3722G>A
c.3515G>A (p.Trp1172Ter)
c.3503G>A (p.Trp1168Ter)
c.94-89551G>A (n.94-89551G>A)
c.94-90040G>A (n.94-90040G>A)
n.336-237687G>A
c.3491G>A (p.Trp1164Ter)
c.3146G>A (p.Trp1049Ter)
c.3386G>A (p.Trp1129Ter)
 dbSNP COSMIC COSMIC COSMIC
Xg.32454751A>CCA412663231DMDn.3721T>G
c.3514T>G (p.Trp1172Gly)
c.3502T>G (p.Trp1168Gly)
c.94-89552T>G (n.94-89552T>G)
c.94-90041T>G (n.94-90041T>G)
n.336-237688T>G
c.3490T>G (p.Trp1164Gly)
c.3145T>G (p.Trp1049Gly)
c.3385T>G (p.Trp1129Gly)
Xg.32454751A>GCA412663232DMDn.3721T>C
c.3514T>C (p.Trp1172Arg)
c.3502T>C (p.Trp1168Arg)
c.94-89552T>C (n.94-89552T>C)
c.94-90041T>C (n.94-90041T>C)
n.336-237688T>C
c.3490T>C (p.Trp1164Arg)
c.3145T>C (p.Trp1049Arg)
c.3385T>C (p.Trp1129Arg)
Xg.32454751A>TCA412663230DMDn.3721T>A
c.3514T>A (p.Trp1172Arg)
c.3502T>A (p.Trp1168Arg)
c.94-89552T>A (n.94-89552T>A)
c.94-90041T>A (n.94-90041T>A)
n.336-237688T>A
c.3490T>A (p.Trp1164Arg)
c.3145T>A (p.Trp1049Arg)
c.3385T>A (p.Trp1129Arg)
Xg.32454752T>ACA412663234DMDn.3720A>T
c.3513A>T (p.Glu1171Asp)
c.3501A>T (p.Glu1167Asp)
c.94-89553A>T (n.94-89553A>T)
c.94-90042A>T (n.94-90042A>T)
n.336-237689A>T
c.3489A>T (p.Glu1163Asp)
c.3144A>T (p.Glu1048Asp)
c.3384A>T (p.Glu1128Asp)
Xg.32454752T>CCA327997021DMDn.3720A>G
c.3513A>G (p.Glu1171=)
c.3501A>G (p.Glu1167=)
c.94-89553A>G (n.94-89553A>G)
c.94-90042A>G (n.94-90042A>G)
n.336-237689A>G
c.3489A>G (p.Glu1163=)
c.3144A>G (p.Glu1048=)
c.3384A>G (p.Glu1128=)
 ClinVar dbSNP gnomAD v4
Xg.32454752T>GCA412663233DMDn.3720A>C
c.3513A>C (p.Glu1171Asp)
c.3501A>C (p.Glu1167Asp)
c.94-89553A>C (n.94-89553A>C)
c.94-90042A>C (n.94-90042A>C)
n.336-237689A>C
c.3489A>C (p.Glu1163Asp)
c.3144A>C (p.Glu1048Asp)
c.3384A>C (p.Glu1128Asp)
Xg.32454752T=CA2422811221DMDn.3720A=
c.3513A= (p.Glu1171=)
c.3501A= (p.Glu1167=)
c.94-89553A= (n.94-89553A=)
c.94-90042A= (n.94-90042A=)
n.336-237689A=
c.3489A= (p.Glu1163=)
c.3144A= (p.Glu1048=)
c.3384A= (p.Glu1128=)
Xg.32454753T>ACA412663235DMDn.3719A>T
c.3512A>T (p.Glu1171Val)
c.3500A>T (p.Glu1167Val)
c.94-89554A>T (n.94-89554A>T)
c.94-90043A>T (n.94-90043A>T)
n.336-237690A>T
c.3488A>T (p.Glu1163Val)
c.3143A>T (p.Glu1048Val)
c.3383A>T (p.Glu1128Val)
Xg.32454753T>CCA412663236DMDn.3719A>G
c.3512A>G (p.Glu1171Gly)
c.3500A>G (p.Glu1167Gly)
c.94-89554A>G (n.94-89554A>G)
c.94-90043A>G (n.94-90043A>G)
n.336-237690A>G
c.3488A>G (p.Glu1163Gly)
c.3143A>G (p.Glu1048Gly)
c.3383A>G (p.Glu1128Gly)
Xg.32454753T>GCA412663237DMDn.3719A>C
c.3512A>C (p.Glu1171Ala)
c.3500A>C (p.Glu1167Ala)
c.94-89554A>C (n.94-89554A>C)
c.94-90043A>C (n.94-90043A>C)
n.336-237690A>C
c.3488A>C (p.Glu1163Ala)
c.3143A>C (p.Glu1048Ala)
c.3383A>C (p.Glu1128Ala)
 ClinVar dbSNP gnomAD v4
Xg.32454753T=CA2422811222DMDn.3719A=
c.3512A= (p.Glu1171=)
c.3500A= (p.Glu1167=)
c.94-89554A= (n.94-89554A=)
c.94-90043A= (n.94-90043A=)
n.336-237690A=
c.3488A= (p.Glu1163=)
c.3143A= (p.Glu1048=)
c.3383A= (p.Glu1128=)
Xg.32454754C>ACA412663240DMDn.3718G>T
c.3511G>T (p.Glu1171Ter)
c.3499G>T (p.Glu1167Ter)
c.94-89555G>T (n.94-89555G>T)
c.94-90044G>T (n.94-90044G>T)
n.336-237691G>T
c.3487G>T (p.Glu1163Ter)
c.3142G>T (p.Glu1048Ter)
c.3382G>T (p.Glu1128Ter)
 ClinVar dbSNP
Xg.32454754C=CA2422811223DMDn.3718G=
c.3511G= (p.Glu1171=)
c.3499G= (p.Glu1167=)
c.94-89555G= (n.94-89555G=)
c.94-90044G= (n.94-90044G=)
n.336-237691G=
c.3487G= (p.Glu1163=)
c.3142G= (p.Glu1048=)
c.3382G= (p.Glu1128=)
Xg.32454754C>GCA412663239DMDn.3718G>C
c.3511G>C (p.Glu1171Gln)
c.3499G>C (p.Glu1167Gln)
c.94-89555G>C (n.94-89555G>C)
c.94-90044G>C (n.94-90044G>C)
n.336-237691G>C
c.3487G>C (p.Glu1163Gln)
c.3142G>C (p.Glu1048Gln)
c.3382G>C (p.Glu1128Gln)
Xg.32454754C>TCA412663238DMDn.3718G>A
c.3511G>A (p.Glu1171Lys)
c.3499G>A (p.Glu1167Lys)
c.94-89555G>A (n.94-89555G>A)
c.94-90044G>A (n.94-90044G>A)
n.336-237691G>A
c.3487G>A (p.Glu1163Lys)
c.3142G>A (p.Glu1048Lys)
c.3382G>A (p.Glu1128Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.32454755G>ACA327997022DMDn.3717C>T
c.3510C>T (p.His1170=)
c.3498C>T (p.His1166=)
c.94-89556C>T (n.94-89556C>T)
c.94-90045C>T (n.94-90045C>T)
n.336-237692C>T
c.3486C>T (p.His1162=)
c.3141C>T (p.His1047=)
c.3381C>T (p.His1127=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454755G>CCA412663241DMDn.3717C>G
c.3510C>G (p.His1170Gln)
c.3498C>G (p.His1166Gln)
c.94-89556C>G (n.94-89556C>G)
c.94-90045C>G (n.94-90045C>G)
n.336-237692C>G
c.3486C>G (p.His1162Gln)
c.3141C>G (p.His1047Gln)
c.3381C>G (p.His1127Gln)
 ClinVar
Xg.32454755G=CA2422811224DMDn.3717C=
c.3510C= (p.His1170=)
c.3498C= (p.His1166=)
c.94-89556C= (n.94-89556C=)
c.94-90045C= (n.94-90045C=)
n.336-237692C=
c.3486C= (p.His1162=)
c.3141C= (p.His1047=)
c.3381C= (p.His1127=)
Xg.32454755G>TCA412663242DMDn.3717C>A
c.3510C>A (p.His1170Gln)
c.3498C>A (p.His1166Gln)
c.94-89556C>A (n.94-89556C>A)
c.94-90045C>A (n.94-90045C>A)
n.336-237692C>A
c.3486C>A (p.His1162Gln)
c.3141C>A (p.His1047Gln)
c.3381C>A (p.His1127Gln)
 gnomAD v4
Xg.32454756T>ACA412663243DMDn.3716A>T
c.3509A>T (p.His1170Leu)
c.3497A>T (p.His1166Leu)
c.94-89557A>T (n.94-89557A>T)
c.94-90046A>T (n.94-90046A>T)
n.336-237693A>T
c.3485A>T (p.His1162Leu)
c.3140A>T (p.His1047Leu)
c.3380A>T (p.His1127Leu)
 dbSNP
Xg.32454756T>CCA412663244DMDn.3716A>G
c.3509A>G (p.His1170Arg)
c.3497A>G (p.His1166Arg)
c.94-89557A>G (n.94-89557A>G)
c.94-90046A>G (n.94-90046A>G)
n.336-237693A>G
c.3485A>G (p.His1162Arg)
c.3140A>G (p.His1047Arg)
c.3380A>G (p.His1127Arg)
Xg.32454756T>GCA412663245DMDn.3716A>C
c.3509A>C (p.His1170Pro)
c.3497A>C (p.His1166Pro)
c.94-89557A>C (n.94-89557A>C)
c.94-90046A>C (n.94-90046A>C)
n.336-237693A>C
c.3485A>C (p.His1162Pro)
c.3140A>C (p.His1047Pro)
c.3380A>C (p.His1127Pro)
Xg.32454757G>ACA412663246DMDn.3715C>T
c.3508C>T (p.His1170Tyr)
c.3496C>T (p.His1166Tyr)
c.94-89558C>T (n.94-89558C>T)
c.94-90047C>T (n.94-90047C>T)
n.336-237694C>T
c.3484C>T (p.His1162Tyr)
c.3139C>T (p.His1047Tyr)
c.3379C>T (p.His1127Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32454757G>CCA412663248DMDn.3715C>G
c.3508C>G (p.His1170Asp)
c.3496C>G (p.His1166Asp)
c.94-89558C>G (n.94-89558C>G)
c.94-90047C>G (n.94-90047C>G)
n.336-237694C>G
c.3484C>G (p.His1162Asp)
c.3139C>G (p.His1047Asp)
c.3379C>G (p.His1127Asp)
Xg.32454757G=CA2422811225DMDn.3715C=
c.3508C= (p.His1170=)
c.3496C= (p.His1166=)
c.94-89558C= (n.94-89558C=)
c.94-90047C= (n.94-90047C=)
n.336-237694C=
c.3484C= (p.His1162=)
c.3139C= (p.His1047=)
c.3379C= (p.His1127=)
Xg.32454757G>TCA412663247DMDn.3715C>A
c.3508C>A (p.His1170Asn)
c.3496C>A (p.His1166Asn)
c.94-89558C>A (n.94-89558C>A)
c.94-90047C>A (n.94-90047C>A)
n.336-237694C>A
c.3484C>A (p.His1162Asn)
c.3139C>A (p.His1047Asn)
c.3379C>A (p.His1127Asn)
 gnomAD v4
Xg.32454758C>ACA412663249DMDn.3714G>T
c.3507G>T (p.Met1169Ile)
c.3495G>T (p.Met1165Ile)
c.94-89559G>T (n.94-89559G>T)
c.94-90048G>T (n.94-90048G>T)
n.336-237695G>T
c.3483G>T (p.Met1161Ile)
c.3138G>T (p.Met1046Ile)
c.3378G>T (p.Met1126Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.32454758C=CA2422811226DMDn.3714G=
c.3507G= (p.Met1169=)
c.3495G= (p.Met1165=)
c.94-89559G= (n.94-89559G=)
c.94-90048G= (n.94-90048G=)
n.336-237695G=
c.3483G= (p.Met1161=)
c.3138G= (p.Met1046=)
c.3378G= (p.Met1126=)
Xg.32454758C>GCA412663250DMDn.3714G>C
c.3507G>C (p.Met1169Ile)
c.3495G>C (p.Met1165Ile)
c.94-89559G>C (n.94-89559G>C)
c.94-90048G>C (n.94-90048G>C)
n.336-237695G>C
c.3483G>C (p.Met1161Ile)
c.3138G>C (p.Met1046Ile)
c.3378G>C (p.Met1126Ile)
Xg.32454758C>TCA412663251DMDn.3714G>A
c.3507G>A (p.Met1169Ile)
c.3495G>A (p.Met1165Ile)
c.94-89559G>A (n.94-89559G>A)
c.94-90048G>A (n.94-90048G>A)
n.336-237695G>A
c.3483G>A (p.Met1161Ile)
c.3138G>A (p.Met1046Ile)
c.3378G>A (p.Met1126Ile)
Xg.32454759A>CCA412663252DMDn.3713T>G
c.3506T>G (p.Met1169Arg)
c.3494T>G (p.Met1165Arg)
c.94-89560T>G (n.94-89560T>G)
c.94-90049T>G (n.94-90049T>G)
n.336-237696T>G
c.3482T>G (p.Met1161Arg)
c.3137T>G (p.Met1046Arg)
c.3377T>G (p.Met1126Arg)
Xg.32454759A>GCA412663253DMDn.3713T>C
c.3506T>C (p.Met1169Thr)
c.3494T>C (p.Met1165Thr)
c.94-89560T>C (n.94-89560T>C)
c.94-90049T>C (n.94-90049T>C)
n.336-237696T>C
c.3482T>C (p.Met1161Thr)
c.3137T>C (p.Met1046Thr)
c.3377T>C (p.Met1126Thr)
Xg.32454759A>TCA412663254DMDn.3713T>A
c.3506T>A (p.Met1169Lys)
c.3494T>A (p.Met1165Lys)
c.94-89560T>A (n.94-89560T>A)
c.94-90049T>A (n.94-90049T>A)
n.336-237696T>A
c.3482T>A (p.Met1161Lys)
c.3137T>A (p.Met1046Lys)
c.3377T>A (p.Met1126Lys)
Xg.32454760T>ACA412663255DMDn.3712A>T
c.3505A>T (p.Met1169Leu)
c.3493A>T (p.Met1165Leu)
c.94-89561A>T (n.94-89561A>T)
c.94-90050A>T (n.94-90050A>T)
n.336-237697A>T
c.3481A>T (p.Met1161Leu)
c.3136A>T (p.Met1046Leu)
c.3376A>T (p.Met1126Leu)
Xg.32454760T>CCA10379253DMDn.3712A>G
c.3505A>G (p.Met1169Val)
c.3493A>G (p.Met1165Val)
c.94-89561A>G (n.94-89561A>G)
c.94-90050A>G (n.94-90050A>G)
n.336-237697A>G
c.3481A>G (p.Met1161Val)
c.3136A>G (p.Met1046Val)
c.3376A>G (p.Met1126Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454760T>GCA412663256DMDn.3712A>C
c.3505A>C (p.Met1169Leu)
c.3493A>C (p.Met1165Leu)
c.94-89561A>C (n.94-89561A>C)
c.94-90050A>C (n.94-90050A>C)
n.336-237697A>C
c.3481A>C (p.Met1161Leu)
c.3136A>C (p.Met1046Leu)
c.3376A>C (p.Met1126Leu)
Xg.32454760T=CA2422811227DMDn.3712A=
c.3505A= (p.Met1169=)
c.3493A= (p.Met1165=)
c.94-89561A= (n.94-89561A=)
c.94-90050A= (n.94-90050A=)
n.336-237697A=
c.3481A= (p.Met1161=)
c.3136A= (p.Met1046=)
c.3376A= (p.Met1126=)
Xg.32454763_32454764delCA2695231955DMDn.3711_3712del
c.3504_3505del (p.Glu1168AspfsTer9)
c.3492_3493del (p.Glu1164AspfsTer9)
c.94-89562_94-89561del (n.94-89562_94-89561del)
c.94-90051_94-90050del (n.94-90051_94-90050del)
n.336-237698_336-237697del
c.3480_3481del (p.Glu1160AspfsTer9)
c.3135_3136del (p.Glu1045AspfsTer9)
c.3375_3376del (p.Glu1125AspfsTer9)
Xg.32454761C>ACA412663257DMDn.3711G>T
c.3504G>T (p.Glu1168Asp)
c.3492G>T (p.Glu1164Asp)
c.94-89562G>T (n.94-89562G>T)
c.94-90051G>T (n.94-90051G>T)
n.336-237698G>T
c.3480G>T (p.Glu1160Asp)
c.3135G>T (p.Glu1045Asp)
c.3375G>T (p.Glu1125Asp)
Xg.32454761C=CA2422811228DMDn.3711G=
c.3504G= (p.Glu1168=)
c.3492G= (p.Glu1164=)
c.94-89562G= (n.94-89562G=)
c.94-90051G= (n.94-90051G=)
n.336-237698G=
c.3480G= (p.Glu1160=)
c.3135G= (p.Glu1045=)
c.3375G= (p.Glu1125=)
Xg.32454761C>GCA412663258DMDn.3711G>C
c.3504G>C (p.Glu1168Asp)
c.3492G>C (p.Glu1164Asp)
c.94-89562G>C (n.94-89562G>C)
c.94-90051G>C (n.94-90051G>C)
n.336-237698G>C
c.3480G>C (p.Glu1160Asp)
c.3135G>C (p.Glu1045Asp)
c.3375G>C (p.Glu1125Asp)
Xg.32454761C>TCA16608898DMDn.3711G>A
c.3504G>A (p.Glu1168=)
c.3492G>A (p.Glu1164=)
c.94-89562G>A (n.94-89562G>A)
c.94-90051G>A (n.94-90051G>A)
n.336-237698G>A
c.3480G>A (p.Glu1160=)
c.3135G>A (p.Glu1045=)
c.3375G>A (p.Glu1125=)
 ClinVar dbSNP
Xg.32454762T>ACA412663261DMDn.3710A>T
c.3503A>T (p.Glu1168Val)
c.3491A>T (p.Glu1164Val)
c.94-89563A>T (n.94-89563A>T)
c.94-90052A>T (n.94-90052A>T)
n.336-237699A>T
c.3479A>T (p.Glu1160Val)
c.3134A>T (p.Glu1045Val)
c.3374A>T (p.Glu1125Val)
Xg.32454762T>CCA412663260DMDn.3710A>G
c.3503A>G (p.Glu1168Gly)
c.3491A>G (p.Glu1164Gly)
c.94-89563A>G (n.94-89563A>G)
c.94-90052A>G (n.94-90052A>G)
n.336-237699A>G
c.3479A>G (p.Glu1160Gly)
c.3134A>G (p.Glu1045Gly)
c.3374A>G (p.Glu1125Gly)
Xg.32454762T>GCA412663259DMDn.3710A>C
c.3503A>C (p.Glu1168Ala)
c.3491A>C (p.Glu1164Ala)
c.94-89563A>C (n.94-89563A>C)
c.94-90052A>C (n.94-90052A>C)
n.336-237699A>C
c.3479A>C (p.Glu1160Ala)
c.3134A>C (p.Glu1045Ala)
c.3374A>C (p.Glu1125Ala)
 gnomAD v4
Xg.32454763C>ACA267003DMDn.3709G>T
c.3502G>T (p.Glu1168Ter)
c.3490G>T (p.Glu1164Ter)
c.94-89564G>T (n.94-89564G>T)
c.94-90053G>T (n.94-90053G>T)
n.336-237700G>T
c.3478G>T (p.Glu1160Ter)
c.3133G>T (p.Glu1045Ter)
c.3373G>T (p.Glu1125Ter)
 dbSNP
Xg.32454763C=CA2422811229DMDn.3709G=
c.3502G= (p.Glu1168=)
c.3490G= (p.Glu1164=)
c.94-89564G= (n.94-89564G=)
c.94-90053G= (n.94-90053G=)
n.336-237700G=
c.3478G= (p.Glu1160=)
c.3133G= (p.Glu1045=)
c.3373G= (p.Glu1125=)
Xg.32454763C>GCA412663262DMDn.3709G>C
c.3502G>C (p.Glu1168Gln)
c.3490G>C (p.Glu1164Gln)
c.94-89564G>C (n.94-89564G>C)
c.94-90053G>C (n.94-90053G>C)
n.336-237700G>C
c.3478G>C (p.Glu1160Gln)
c.3133G>C (p.Glu1045Gln)
c.3373G>C (p.Glu1125Gln)
 dbSNP gnomAD v4
Xg.32454763C>TCA412663263DMDn.3709G>A
c.3502G>A (p.Glu1168Lys)
c.3490G>A (p.Glu1164Lys)
c.94-89564G>A (n.94-89564G>A)
c.94-90053G>A (n.94-90053G>A)
n.336-237700G>A
c.3478G>A (p.Glu1160Lys)
c.3133G>A (p.Glu1045Lys)
c.3373G>A (p.Glu1125Lys)
Xg.32454764T>ACA515715301DMDn.3708A>T
c.3501A>T (p.Ser1167=)
c.3489A>T (p.Ser1163=)
c.94-89565A>T (n.94-89565A>T)
c.94-90054A>T (n.94-90054A>T)
n.336-237701A>T
c.3477A>T (p.Ser1159=)
c.3132A>T (p.Ser1044=)
c.3372A>T (p.Ser1124=)
 dbSNP
Xg.32454764T>CCA515715302DMDn.3708A>G
c.3501A>G (p.Ser1167=)
c.3489A>G (p.Ser1163=)
c.94-89565A>G (n.94-89565A>G)
c.94-90054A>G (n.94-90054A>G)
n.336-237701A>G
c.3477A>G (p.Ser1159=)
c.3132A>G (p.Ser1044=)
c.3372A>G (p.Ser1124=)
Xg.32454764T>GCA515715303DMDn.3708A>C
c.3501A>C (p.Ser1167=)
c.3489A>C (p.Ser1163=)
c.94-89565A>C (n.94-89565A>C)
c.94-90054A>C (n.94-90054A>C)
n.336-237701A>C
c.3477A>C (p.Ser1159=)
c.3132A>C (p.Ser1044=)
c.3372A>C (p.Ser1124=)
Xg.32454764T=CA2422811231DMDn.3708A=
c.3501A= (p.Ser1167=)
c.3489A= (p.Ser1163=)
c.94-89565A= (n.94-89565A=)
c.94-90054A= (n.94-90054A=)
n.336-237701A=
c.3477A= (p.Ser1159=)
c.3132A= (p.Ser1044=)
c.3372A= (p.Ser1124=)
Xg.32454764_32454765delCA2580100696DMDn.3707_3708del
c.3500_3501del (p.Ser1167Ter)
c.3488_3489del (p.Ser1163Ter)
c.94-89566_94-89565del (n.94-89566_94-89565del)
c.94-90055_94-90054del (n.94-90055_94-90054del)
n.336-237702_336-237701del
c.3476_3477del (p.Ser1159Ter)
c.3131_3132del (p.Ser1044Ter)
c.3371_3372del (p.Ser1124Ter)
 ClinVar
Xg.32454764_32454768delinsTGATACA2422811230DMDn.3704_3708delinsTATCA
c.3497_3501delinsTATCA (p.Leu1166=)
c.3485_3489delinsTATCA (p.Leu1162=)
c.94-89569_94-89565delinsTATCA (n.94-89569_94-89565delinsTATCA)
c.94-90058_94-90054delinsTATCA (n.94-90058_94-90054delinsTATCA)
n.336-237705_336-237701delinsTATCA
c.3473_3477delinsTATCA (p.Leu1158=)
c.3128_3132delinsTATCA (p.Leu1043=)
c.3368_3372delinsTATCA (p.Leu1123=)
Xg.32454765G>ACA412663264DMDn.3707C>T
c.3500C>T (p.Ser1167Leu)
c.3488C>T (p.Ser1163Leu)
c.94-89566C>T (n.94-89566C>T)
c.94-90055C>T (n.94-90055C>T)
n.336-237702C>T
c.3476C>T (p.Ser1159Leu)
c.3131C>T (p.Ser1044Leu)
c.3371C>T (p.Ser1124Leu)
Xg.32454765G>CCA412663265DMDn.3707C>G
c.3500C>G (p.Ser1167Ter)
c.3488C>G (p.Ser1163Ter)
c.94-89566C>G (n.94-89566C>G)
c.94-90055C>G (n.94-90055C>G)
n.336-237702C>G
c.3476C>G (p.Ser1159Ter)
c.3131C>G (p.Ser1044Ter)
c.3371C>G (p.Ser1124Ter)
 ClinVar dbSNP
Xg.32454765G=CA2422811232DMDn.3707C=
c.3500C= (p.Ser1167=)
c.3488C= (p.Ser1163=)
c.94-89566C= (n.94-89566C=)
c.94-90055C= (n.94-90055C=)
n.336-237702C=
c.3476C= (p.Ser1159=)
c.3131C= (p.Ser1044=)
c.3371C= (p.Ser1124=)
Xg.32454765G>TCA412663266DMDn.3707C>A
c.3500C>A (p.Ser1167Ter)
c.3488C>A (p.Ser1163Ter)
c.94-89566C>A (n.94-89566C>A)
c.94-90055C>A (n.94-90055C>A)
n.336-237702C>A
c.3476C>A (p.Ser1159Ter)
c.3131C>A (p.Ser1044Ter)
c.3371C>A (p.Ser1124Ter)
Xg.32454768_32454771delCA275140DMDn.3704_3707del
c.3497_3500del (p.Leu1166GlnfsTer7)
c.3485_3488del (p.Leu1162GlnfsTer7)
c.94-89569_94-89566del (n.94-89569_94-89566del)
c.94-90058_94-90055del (n.94-90058_94-90055del)
n.336-237705_336-237702del
c.3473_3476del (p.Leu1158GlnfsTer7)
c.3128_3131del (p.Leu1043GlnfsTer7)
c.3368_3371del (p.Leu1123GlnfsTer7)
 ClinVar dbSNP
Xg.32454766A>CCA412663267DMDn.3706T>G
c.3499T>G (p.Ser1167Ala)
c.3487T>G (p.Ser1163Ala)
c.94-89567T>G (n.94-89567T>G)
c.94-90056T>G (n.94-90056T>G)
n.336-237703T>G
c.3475T>G (p.Ser1159Ala)
c.3130T>G (p.Ser1044Ala)
c.3370T>G (p.Ser1124Ala)
Xg.32454766A>GCA412663268DMDn.3706T>C
c.3499T>C (p.Ser1167Pro)
c.3487T>C (p.Ser1163Pro)
c.94-89567T>C (n.94-89567T>C)
c.94-90056T>C (n.94-90056T>C)
n.336-237703T>C
c.3475T>C (p.Ser1159Pro)
c.3130T>C (p.Ser1044Pro)
c.3370T>C (p.Ser1124Pro)
Xg.32454766A>TCA412663269DMDn.3706T>A
c.3499T>A (p.Ser1167Thr)
c.3487T>A (p.Ser1163Thr)
c.94-89567T>A (n.94-89567T>A)
c.94-90056T>A (n.94-90056T>A)
n.336-237703T>A
c.3475T>A (p.Ser1159Thr)
c.3130T>A (p.Ser1044Thr)
c.3370T>A (p.Ser1124Thr)
Xg.32454767T>ACA515715304DMDn.3705A>T
c.3498A>T (p.Leu1166=)
c.3486A>T (p.Leu1162=)
c.94-89568A>T (n.94-89568A>T)
c.94-90057A>T (n.94-90057A>T)
n.336-237704A>T
c.3474A>T (p.Leu1158=)
c.3129A>T (p.Leu1043=)
c.3369A>T (p.Leu1123=)
 ClinVar
Xg.32454767T>CCA10379254DMDn.3705A>G
c.3498A>G (p.Leu1166=)
c.3486A>G (p.Leu1162=)
c.94-89568A>G (n.94-89568A>G)
c.94-90057A>G (n.94-90057A>G)
n.336-237704A>G
c.3474A>G (p.Leu1158=)
c.3129A>G (p.Leu1043=)
c.3369A>G (p.Leu1123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454767T>GCA515715305DMDn.3705A>C
c.3498A>C (p.Leu1166=)
c.3486A>C (p.Leu1162=)
c.94-89568A>C (n.94-89568A>C)
c.94-90057A>C (n.94-90057A>C)
n.336-237704A>C
c.3474A>C (p.Leu1158=)
c.3129A>C (p.Leu1043=)
c.3369A>C (p.Leu1123=)
Xg.32454767T=CA2422811233DMDn.3705A=
c.3498A= (p.Leu1166=)
c.3486A= (p.Leu1162=)
c.94-89568A= (n.94-89568A=)
c.94-90057A= (n.94-90057A=)
n.336-237704A=
c.3474A= (p.Leu1158=)
c.3129A= (p.Leu1043=)
c.3369A= (p.Leu1123=)
Xg.32454768A>CCA412663270DMDn.3704T>G
c.3497T>G (p.Leu1166Arg)
c.3485T>G (p.Leu1162Arg)
c.94-89569T>G (n.94-89569T>G)
c.94-90058T>G (n.94-90058T>G)
n.336-237705T>G
c.3473T>G (p.Leu1158Arg)
c.3128T>G (p.Leu1043Arg)
c.3368T>G (p.Leu1123Arg)
Xg.32454768A>GCA412663271DMDn.3704T>C
c.3497T>C (p.Leu1166Pro)
c.3485T>C (p.Leu1162Pro)
c.94-89569T>C (n.94-89569T>C)
c.94-90058T>C (n.94-90058T>C)
n.336-237705T>C
c.3473T>C (p.Leu1158Pro)
c.3128T>C (p.Leu1043Pro)
c.3368T>C (p.Leu1123Pro)
 gnomAD v4
Xg.32454768A>TCA412663272DMDn.3704T>A
c.3497T>A (p.Leu1166Gln)
c.3485T>A (p.Leu1162Gln)
c.94-89569T>A (n.94-89569T>A)
c.94-90058T>A (n.94-90058T>A)
n.336-237705T>A
c.3473T>A (p.Leu1158Gln)
c.3128T>A (p.Leu1043Gln)
c.3368T>A (p.Leu1123Gln)
Xg.32454768_32454771delinsGCACGAAGGCA2695231956DMDn.3701_3704delinsCCTTCGTGC
c.3494_3497delinsCCTTCGTGC (p.Asp1165AlafsTer11)
c.3482_3485delinsCCTTCGTGC (p.Asp1161AlafsTer11)
c.94-89572_94-89569delinsCCTTCGTGC (n.94-89572_94-89569delinsCCTTCGTGC)
c.94-90061_94-90058delinsCCTTCGTGC (n.94-90061_94-90058delinsCCTTCGTGC)
n.336-237708_336-237705delinsCCTTCGTGC
c.3470_3473delinsCCTTCGTGC (p.Asp1157AlafsTer11)
c.3125_3128delinsCCTTCGTGC (p.Asp1042AlafsTer11)
c.3365_3368delinsCCTTCGTGC (p.Asp1122AlafsTer11)
Xg.32454769G>ACA515715306DMDn.3703C>T
c.3496C>T (p.Leu1166=)
c.3484C>T (p.Leu1162=)
c.94-89570C>T (n.94-89570C>T)
c.94-90059C>T (n.94-90059C>T)
n.336-237706C>T
c.3472C>T (p.Leu1158=)
c.3127C>T (p.Leu1043=)
c.3367C>T (p.Leu1123=)
Xg.32454769G>CCA10379255DMDn.3703C>G
c.3496C>G (p.Leu1166Val)
c.3484C>G (p.Leu1162Val)
c.94-89570C>G (n.94-89570C>G)
c.94-90059C>G (n.94-90059C>G)
n.336-237706C>G
c.3472C>G (p.Leu1158Val)
c.3127C>G (p.Leu1043Val)
c.3367C>G (p.Leu1123Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32454769G=CA2422811234DMDn.3703C=
c.3496C= (p.Leu1166=)
c.3484C= (p.Leu1162=)
c.94-89570C= (n.94-89570C=)
c.94-90059C= (n.94-90059C=)
n.336-237706C=
c.3472C= (p.Leu1158=)
c.3127C= (p.Leu1043=)
c.3367C= (p.Leu1123=)
Xg.32454769G>TCA412663273DMDn.3703C>A
c.3496C>A (p.Leu1166Ile)
c.3484C>A (p.Leu1162Ile)
c.94-89570C>A (n.94-89570C>A)
c.94-90059C>A (n.94-90059C>A)
n.336-237706C>A
c.3472C>A (p.Leu1158Ile)
c.3127C>A (p.Leu1043Ile)
c.3367C>A (p.Leu1123Ile)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
Xg.32454770A>CCA412663274DMDn.3702T>G
c.3495T>G (p.Asp1165Glu)
c.3483T>G (p.Asp1161Glu)
c.94-89571T>G (n.94-89571T>G)
c.94-90060T>G (n.94-90060T>G)
n.336-237707T>G
c.3471T>G (p.Asp1157Glu)
c.3126T>G (p.Asp1042Glu)
c.3366T>G (p.Asp1122Glu)
Xg.32454770A>GCA515715307DMDn.3702T>C
c.3495T>C (p.Asp1165=)
c.3483T>C (p.Asp1161=)
c.94-89571T>C (n.94-89571T>C)
c.94-90060T>C (n.94-90060T>C)
n.336-237707T>C
c.3471T>C (p.Asp1157=)
c.3126T>C (p.Asp1042=)
c.3366T>C (p.Asp1122=)
 gnomAD v4
Xg.32454770A>TCA412663275DMDn.3702T>A
c.3495T>A (p.Asp1165Glu)
c.3483T>A (p.Asp1161Glu)
c.94-89571T>A (n.94-89571T>A)
c.94-90060T>A (n.94-90060T>A)
n.336-237707T>A
c.3471T>A (p.Asp1157Glu)
c.3126T>A (p.Asp1042Glu)
c.3366T>A (p.Asp1122Glu)

Number of alleles fetched