ClinVar Miner

List of variants in gene combination CDKL5, RS1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 421
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3484C>A rs33958554 0.66040
NM_000330.4(RS1):c.185-150A>C rs6633107 0.09819
NM_000330.4(RS1):c.522+66A>C rs41309707 0.06999
NM_000330.4(RS1):c.330T>C (p.Cys110=) rs1801161 0.06874
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01920
NM_000330.4(RS1):c.185-3439C>T rs142949334 0.00694
NM_000330.4(RS1):c.523-10A>C rs142428831 0.00691
NM_000330.4(RS1):c.184+3357T>C rs139047348 0.00664
NM_000330.4(RS1):c.185-3548A>G rs151084706 0.00654
NM_000330.4(RS1):c.184+3243C>T rs58669795 0.00568
NM_000330.4(RS1):c.258G>A (p.Pro86=) rs147290350 0.00472
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000330.4(RS1):c.184+3208G>A rs150900695 0.00231
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_000330.4(RS1):c.576C>T (p.Pro192=) rs186334493 0.00025
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_000330.4(RS1):c.523-18T>C rs370113264 0.00021
NM_000330.4(RS1):c.285G>A (p.Ser95=) rs143920122 0.00018
NM_000330.4(RS1):c.185-12T>C rs370600721 0.00010
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_000330.4(RS1):c.522G>A (p.Arg174=) rs762407219 0.00008
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00007
NM_000330.4(RS1):c.185-3189C>T rs570887192 0.00006
NM_000330.4(RS1):c.326+14G>A rs370841048 0.00006
NM_000330.4(RS1):c.326+17G>C rs750398322 0.00006
NM_000330.4(RS1):c.597C>A (p.Ile199=) rs200052722 0.00005
NM_000330.4(RS1):c.185-3221G>C rs374054249 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000330.4(RS1):c.661A>G (p.Ser221Gly) rs1339570385 0.00004
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000330.4(RS1):c.306G>T (p.Arg102=) rs762601581 0.00003
NM_000330.4(RS1):c.521G>A (p.Arg174Gln) rs765547068 0.00003
NM_000330.4(RS1):c.184+3119G>A rs762576315 0.00002
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00002
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000330.4(RS1):c.257C>T (p.Pro86Leu) rs761385911 0.00002
NM_000330.4(RS1):c.320G>A (p.Gly107Asp) rs143682861 0.00002
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_000330.4(RS1):c.326+1130C>T rs1487927674 0.00002
NM_000330.4(RS1):c.327-6C>T rs372728604 0.00002
NM_000330.4(RS1):c.432C>T (p.Ile144=) rs775507405 0.00002
NM_000330.4(RS1):c.433G>A (p.Asp145Asn) rs184603580 0.00002
NM_000330.4(RS1):c.471C>T (p.Thr157=) rs754381417 0.00002
NM_000330.4(RS1):c.478C>T (p.Arg160Cys) rs766007270 0.00002
NM_000330.4(RS1):c.513A>C (p.Gly171=) rs1218580579 0.00002
NM_000330.4(RS1):c.539C>T (p.Ser180Leu) rs760857618 0.00002
NM_000330.4(RS1):c.600C>T (p.Arg200=) rs771514400 0.00002
NM_000330.4(RS1):c.185-14T>G rs1406465626 0.00001
NM_000330.4(RS1):c.185-3054G>A rs1294833087 0.00001
NM_000330.4(RS1):c.185-3090_185-3089insT rs1158418673 0.00001
NM_000330.4(RS1):c.185-3109C>T rs1057522669 0.00001
NM_000330.4(RS1):c.185-3146G>A rs1398393336 0.00001
NM_000330.4(RS1):c.185-3161G>C rs1064794669 0.00001
NM_000330.4(RS1):c.185-3170A>G rs781435432 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000330.4(RS1):c.194del (p.Tyr65fs) rs62645893 0.00001
NM_000330.4(RS1):c.196C>G (p.His66Asp) rs1244059097 0.00001
NM_000330.4(RS1):c.213C>T (p.Phe71=) rs764292483 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.216G>A (p.Glu72=) rs104894932 0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000330.4(RS1):c.289A>C (p.Thr97Pro) rs746374375 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.326+1089C>A rs886042724 0.00001
NM_000330.4(RS1):c.326+10G>A rs1473346927 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.326+8G>C rs752870628 0.00001
NM_000330.4(RS1):c.327-16G>A rs1005590954 0.00001
NM_000330.4(RS1):c.345G>A (p.Lys115=) rs768571577 0.00001
NM_000330.4(RS1):c.416del (p.Gln139fs) rs61752155 0.00001
NM_000330.4(RS1):c.450G>C (p.Lys150Asn) rs1342574819 0.00001
NM_000330.4(RS1):c.479G>A (p.Arg160His) rs758816133 0.00001
NM_000330.4(RS1):c.510T>C (p.Thr170=) rs1473665189 0.00001
NM_000330.4(RS1):c.523-7T>C rs1241552856 0.00001
NM_000330.4(RS1):c.535A>C (p.Asn179His) rs61753170 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000330.4(RS1):c.572G>A (p.Arg191Gln) rs1402116265 0.00001
NM_000330.4(RS1):c.580A>G (p.Ile194Val) rs1464991419 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_000330.4(RS1):c.655T>G (p.Cys219Gly) rs281865369 0.00001
NM_000330.4(RS1):c.672C>T (p.Ala224=) rs773102905 0.00001
GRCh37/hg19 Xp22.13(chrX:18661283-18702225)x1
GRCh37/hg19 Xp22.13(chrX:18662484-18662736)x2
NC_000023.10:g.(?_18660124)_(18660296_?)dup
NC_000023.10:g.(?_18662530)_(18690188_?)del
NC_000023.10:g.(?_18662550)_(18690188_?)del
NC_000023.10:g.(?_18663320)_(18665330_?)del
NC_000023.10:g.(?_18665301)_(18665462_?)del
NM_000330.4(RS1):c.*146del rs377648180
NM_000330.4(RS1):c.184+2977A>T rs34450419
NM_000330.4(RS1):c.184+2978T>C rs56396491
NM_000330.4(RS1):c.184+3118C>G rs139155110
NM_000330.4(RS1):c.184+3127C>T
NM_000330.4(RS1):c.184+3128G>A rs768289707
NM_000330.4(RS1):c.184+3139G>C rs779791138
NM_000330.4(RS1):c.184+3154A>G rs1211411564
NM_000330.4(RS1):c.184+3168G>A
NM_000330.4(RS1):c.184+3174T>C rs2147201232
NM_000330.4(RS1):c.184+3185G>A rs573588032
NM_000330.4(RS1):c.184+3199G>C rs36022183
NM_000330.4(RS1):c.184+3219A>T
NM_000330.4(RS1):c.185-149_185-148del rs199718286
NM_000330.4(RS1):c.185-17T>A
NM_000330.4(RS1):c.185-1G>C rs281865344
NM_000330.4(RS1):c.185-1G>T
NM_000330.4(RS1):c.185-29_185-17del
NM_000330.4(RS1):c.185-3078_185-3076del rs1085307780
NM_000330.4(RS1):c.185-3100del rs1158352360
NM_000330.4(RS1):c.185-3110G>T
NM_000330.4(RS1):c.185-3119_185-3117dup rs1064795115
NM_000330.4(RS1):c.185-3179G>C
NM_000330.4(RS1):c.185-3215G>T rs775114662
NM_000330.4(RS1):c.185-3259G>A
NM_000330.4(RS1):c.185-3281C>G rs148531754
NM_000330.4(RS1):c.185-3C>T
NM_000330.4(RS1):c.185-4C>T
NM_000330.4(RS1):c.185-7T>C rs2147194244
NM_000330.4(RS1):c.187T>C (p.Cys63Arg) rs2147194234
NM_000330.4(RS1):c.188G>A (p.Cys63Tyr)
NM_000330.4(RS1):c.188G>T (p.Cys63Phe)
NM_000330.4(RS1):c.189C>A (p.Cys63Ter)
NM_000330.4(RS1):c.192A>G (p.Pro64=)
NM_000330.4(RS1):c.193T>C (p.Tyr65His)
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) rs1927824776
NM_000330.4(RS1):c.201G>A (p.Lys67=)
NM_000330.4(RS1):c.204T>C (p.Pro68=)
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.208G>C (p.Gly70Arg) rs62645894
NM_000330.4(RS1):c.208G>T (p.Gly70Cys)
NM_000330.4(RS1):c.209G>A (p.Gly70Asp) rs62645895
NM_000330.4(RS1):c.209G>C (p.Gly70Ala) rs62645895
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.215A>G (p.Glu72Gly) rs1927823799
NM_000330.4(RS1):c.215A>T (p.Glu72Val)
NM_000330.4(RS1):c.216G>C (p.Glu72Asp) rs104894932
NM_000330.4(RS1):c.217T>C (p.Ser73Pro) rs62645899
NM_000330.4(RS1):c.218C>A (p.Ser73Ter) rs1927823203
NM_000330.4(RS1):c.218C>G (p.Ser73Ter) rs1927823203
NM_000330.4(RS1):c.219A>G (p.Ser73=) rs2147194156
NM_000330.4(RS1):c.219del (p.Glu75fs) rs62645900
NM_000330.4(RS1):c.221_237delinsTCCCCTGACCGGGTTAGAGT (p.Gly74_Asp79delinsValProTer) rs1555957756
NM_000330.4(RS1):c.222G>A (p.Gly74=)
NM_000330.4(RS1):c.223G>T (p.Glu75Ter) rs62641252
NM_000330.4(RS1):c.227T>A (p.Val76Asp) rs2147194138
NM_000330.4(RS1):c.228C>T (p.Val76=) rs1927822249
NM_000330.4(RS1):c.231A>C (p.Thr77=) rs1927822098
NM_000330.4(RS1):c.233C>T (p.Pro78Leu)
NM_000330.4(RS1):c.242T>A (p.Ile81Asn) rs61750457
NM_000330.4(RS1):c.247T>C (p.Cys83Arg) rs1927820779
NM_000330.4(RS1):c.249C>T (p.Cys83=) rs2147194071
NM_000330.4(RS1):c.251C>G (p.Ser84Cys)
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.258G>T (p.Pro86=)
NM_000330.4(RS1):c.262C>T (p.Gln88Ter) rs61750459
NM_000330.4(RS1):c.265T>C (p.Tyr89His) rs2147194034
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.267T>A (p.Tyr89Ter) rs61752061
NM_000330.4(RS1):c.267T>C (p.Tyr89=)
NM_000330.4(RS1):c.268G>C (p.Val90Leu)
NM_000330.4(RS1):c.272G>C (p.Gly91Ala) rs373612815
NM_000330.4(RS1):c.274T>G (p.Trp92Gly) rs2147194007
NM_000330.4(RS1):c.275G>T (p.Trp92Leu)
NM_000330.4(RS1):c.276G>C (p.Trp92Cys) rs61752062
NM_000330.4(RS1):c.278_280del (p.Tyr93del)
NM_000330.4(RS1):c.279T>A (p.Tyr93Ter) rs1057520548
NM_000330.4(RS1):c.279T>C (p.Tyr93=)
NM_000330.4(RS1):c.279TTC[1] (p.Ser95del)
NM_000330.4(RS1):c.284C>A (p.Ser95Ter)
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.288G>A (p.Trp96Ter) rs61752064
NM_000330.4(RS1):c.288G>C (p.Trp96Cys) rs61752064
NM_000330.4(RS1):c.293C>A (p.Ala98Glu) rs61752065
NM_000330.4(RS1):c.297C>T (p.Asn99=)
NM_000330.4(RS1):c.301G>C (p.Ala101Pro) rs61752066
NM_000330.4(RS1):c.301del (p.Ala101fs) rs63465862
NM_000330.4(RS1):c.302C>A (p.Ala101Asp) rs2147193941
NM_000330.4(RS1):c.302C>T (p.Ala101Val) rs2147193941
NM_000330.4(RS1):c.305G>C (p.Arg102Pro)
NM_000330.4(RS1):c.306G>A (p.Arg102=) rs762601581
NM_000330.4(RS1):c.308T>G (p.Leu103Arg) rs61752069
NM_000330.4(RS1):c.311A>C (p.Asn104Thr) rs1927814979
NM_000330.4(RS1):c.312C>G (p.Asn104Lys) rs61752070
NM_000330.4(RS1):c.315T>C (p.Ser105=)
NM_000330.4(RS1):c.316C>T (p.Gln106Ter) rs1386256334
NM_000330.4(RS1):c.318dup (p.Gly107fs) rs61752071
NM_000330.4(RS1):c.321C>T (p.Gly107=)
NM_000330.4(RS1):c.323T>G (p.Phe108Cys) rs61752072
NM_000330.4(RS1):c.325G>A (p.Gly109Arg) rs104894934
NM_000330.4(RS1):c.325G>T (p.Gly109Trp) rs104894934
NM_000330.4(RS1):c.326+1091C>G rs1569229724
NM_000330.4(RS1):c.326+1149A>C rs2147192642
NM_000330.4(RS1):c.326+11C>T
NM_000330.4(RS1):c.326+13C>A
NM_000330.4(RS1):c.326+13C>T
NM_000330.4(RS1):c.326+14G>C
NM_000330.4(RS1):c.326+17G>A rs750398322
NM_000330.4(RS1):c.326+19T>A
NM_000330.4(RS1):c.326+1G>A rs281865346
NM_000330.4(RS1):c.326+1G>T rs281865346
NM_000330.4(RS1):c.326+2T>G rs2147193875
NM_000330.4(RS1):c.326+4A>C
NM_000330.4(RS1):c.326+7A>G
NM_000330.4(RS1):c.326G>A (p.Gly109Glu) rs281865345
NM_000330.4(RS1):c.326G>C (p.Gly109Ala) rs281865345
NM_000330.4(RS1):c.326G>T (p.Gly109Val)
NM_000330.4(RS1):c.327-10T>C rs2147191454
NM_000330.4(RS1):c.327-15G>C
NM_000330.4(RS1):c.327-17C>T
NM_000330.4(RS1):c.327-1G>A
NM_000330.4(RS1):c.327-2A>G rs2147191432
NM_000330.4(RS1):c.327-2_337del
NM_000330.4(RS1):c.327-5G>A rs773769605
NM_000330.4(RS1):c.327-5G>C
NM_000330.4(RS1):c.327-5G>T
NM_000330.4(RS1):c.327-9_327-4del rs2147191437
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr) rs61752075
NM_000330.4(RS1):c.330T>A (p.Cys110Ter) rs1801161
NM_000330.4(RS1):c.332C>A (p.Ala111Asp) rs2147191414
NM_000330.4(RS1):c.332C>T (p.Ala111Val) rs2147191414
NM_000330.4(RS1):c.335_336dup (p.Leu113fs) rs1927705610
NM_000330.4(RS1):c.336G>C (p.Trp112Cys) rs61752144
NM_000330.4(RS1):c.336G>T (p.Trp112Cys) rs61752144
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.341C>T (p.Ser114Phe) rs2147191395
NM_000330.4(RS1):c.345G>C (p.Lys115Asn)
NM_000330.4(RS1):c.348C>T (p.Phe116=) rs2147191388
NM_000330.4(RS1):c.349_350insT (p.Gln117fs) rs61752146
NM_000330.4(RS1):c.354C>T (p.Asp118=) rs1927704453
NM_000330.4(RS1):c.364T>C (p.Trp122Arg) rs2147191370
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000330.4(RS1):c.366G>C (p.Trp122Cys) rs61752147
NM_000330.4(RS1):c.369A>G (p.Leu123=)
NM_000330.4(RS1):c.370C>T (p.Gln124Ter) rs2147191361
NM_000330.4(RS1):c.371dup (p.Ile125fs)
NM_000330.4(RS1):c.372_373insTAGCCAGTGG (p.Ile125Ter) rs2147191359
NM_000330.4(RS1):c.374T>C (p.Ile125Thr) rs199469695
NM_000330.4(RS1):c.374T>G (p.Ile125Arg) rs199469695
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer) rs61752148
NM_000330.4(RS1):c.376G>C (p.Asp126His) rs199469698
NM_000330.4(RS1):c.376G>T (p.Asp126Tyr)
NM_000330.4(RS1):c.379C>A (p.Leu127Met) rs1927703033
NM_000330.4(RS1):c.379C>T (p.Leu127=) rs1927703033
NM_000330.4(RS1):c.380T>C (p.Leu127Pro) rs61752149
NM_000330.4(RS1):c.381G>C (p.Leu127=)
NM_000330.4(RS1):c.385_387del (p.Glu129del) rs1927702371
NM_000330.4(RS1):c.387_434dup (p.Ile144_Asp145insGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIle) rs199469699
NM_000330.4(RS1):c.389T>A (p.Ile130Asn)
NM_000330.4(RS1):c.392_393del (p.Lys131fs) rs281865347
NM_000330.4(RS1):c.397A>T (p.Ile133Phe) rs61752151
NM_000330.4(RS1):c.398T>C (p.Ile133Thr)
NM_000330.4(RS1):c.399T>C (p.Ile133=)
NM_000330.4(RS1):c.402A>G (p.Ser134=) rs1927701439
NM_000330.4(RS1):c.404G>A (p.Gly135Glu) rs61752152
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000330.4(RS1):c.404G>T (p.Gly135Val) rs61752152
NM_000330.4(RS1):c.407T>A (p.Ile136Asn)
NM_000330.4(RS1):c.407T>C (p.Ile136Thr) rs61752153
NM_000330.4(RS1):c.408C>T (p.Ile136=)
NM_000330.4(RS1):c.409C>T (p.Leu137Phe) rs1927700931
NM_000330.4(RS1):c.412A>G (p.Thr138Ala) rs61752154
NM_000330.4(RS1):c.414C>A (p.Thr138=) rs1602310733
NM_000330.4(RS1):c.415C>T (p.Gln139Ter)
NM_000330.4(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.4(RS1):c.418G>T (p.Gly140Trp)
NM_000330.4(RS1):c.419G>A (p.Gly140Glu) rs61752157
NM_000330.4(RS1):c.420G>A (p.Gly140=)
NM_000330.4(RS1):c.421C>G (p.Arg141Gly) rs61752158
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.4(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.423C>A (p.Arg141=)
NM_000330.4(RS1):c.424T>G (p.Cys142Gly)
NM_000330.4(RS1):c.426T>C (p.Cys142=) rs1800001
NM_000330.4(RS1):c.426T>G (p.Cys142Trp) rs1800001
NM_000330.4(RS1):c.426_427del (p.Cys142_Asp143delinsTer) rs61753160
NM_000330.4(RS1):c.428A>T (p.Asp143Val) rs61753161
NM_000330.4(RS1):c.435T>C (p.Asp145=)
NM_000330.4(RS1):c.436G>A (p.Glu146Lys) rs61753162
NM_000330.4(RS1):c.438G>C (p.Glu146Asp) rs61753163
NM_000330.4(RS1):c.439T>C (p.Trp147Arg) rs2147191229
NM_000330.4(RS1):c.451T>C (p.Tyr151His) rs2147191221
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser) rs1131691380
NM_000330.4(RS1):c.457G>A (p.Val153Met)
NM_000330.4(RS1):c.460C>G (p.Gln154Glu) rs61753164
NM_000330.4(RS1):c.460C>T (p.Gln154Ter) rs61753164
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000330.4(RS1):c.464A>G (p.Tyr155Cys) rs61753165
NM_000330.4(RS1):c.464dup (p.Tyr155Ter) rs2147191194
NM_000330.4(RS1):c.465C>T (p.Tyr155=)
NM_000330.4(RS1):c.466A>G (p.Arg156Gly) rs2147191190
NM_000330.4(RS1):c.467G>A (p.Arg156Lys) rs2147191184
NM_000330.4(RS1):c.471C>G (p.Thr157=) rs754381417
NM_000330.4(RS1):c.472G>A (p.Asp158Asn) rs1800002
NM_000330.4(RS1):c.475G>A (p.Glu159Lys)
NM_000330.4(RS1):c.477G>C (p.Glu159Asp) rs2147191161
NM_000330.4(RS1):c.479G>T (p.Arg160Leu)
NM_000330.4(RS1):c.481dup (p.Leu161fs) rs2147191149
NM_000330.4(RS1):c.487T>G (p.Trp163Gly) rs1927695346
NM_000330.4(RS1):c.489G>A (p.Trp163Ter) rs61753166
NM_000330.4(RS1):c.489G>T (p.Trp163Cys) rs61753166
NM_000330.4(RS1):c.495C>T (p.Tyr165=) rs2147191132
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) rs1057516744
NM_000330.4(RS1):c.499A>G (p.Lys167Glu)
NM_000330.4(RS1):c.499A>T (p.Lys167Ter) rs61753167
NM_000330.4(RS1):c.501G>C (p.Lys167Asn) rs61753168
NM_000330.4(RS1):c.505C>T (p.Gln169Ter)
NM_000330.4(RS1):c.508A>C (p.Thr170Pro) rs2147191116
NM_000330.4(RS1):c.511G>A (p.Gly171Arg) rs2147191113
NM_000330.4(RS1):c.519C>T (p.Asn173=)
NM_000330.4(RS1):c.520del (p.Arg174fs) rs886041235
NM_000330.4(RS1):c.522+10G>A
NM_000330.4(RS1):c.522+11C>G
NM_000330.4(RS1):c.522+11C>T
NM_000330.4(RS1):c.522+16C>A
NM_000330.4(RS1):c.522+17C>G
NM_000330.4(RS1):c.522+18C>G
NM_000330.4(RS1):c.522+1G>A rs281865348
NM_000330.4(RS1):c.522+1G>T rs281865348
NM_000330.4(RS1):c.522+2T>A rs2147191083
NM_000330.4(RS1):c.522+9G>A rs1927692982
NM_000330.4(RS1):c.523-10_523-7del rs746069375
NM_000330.4(RS1):c.523-11T>C
NM_000330.4(RS1):c.523-20G>T
NM_000330.4(RS1):c.523-2A>G rs281865349
NM_000330.4(RS1):c.523-4C>T
NM_000330.4(RS1):c.523-5T>A
NM_000330.4(RS1):c.525C>A (p.Val175=)
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter) rs2147189125
NM_000330.4(RS1):c.533G>A (p.Gly178Asp) rs61753169
NM_000330.4(RS1):c.534C>G (p.Gly178=)
NM_000330.4(RS1):c.535A>G (p.Asn179Asp) rs61753170
NM_000330.4(RS1):c.540G>C (p.Ser180=) rs767660711
NM_000330.4(RS1):c.544C>G (p.Arg182Gly) rs61753171
NM_000330.4(RS1):c.545G>A (p.Arg182His)
NM_000330.4(RS1):c.545G>C (p.Arg182Pro)
NM_000330.4(RS1):c.546C>T (p.Arg182=) rs1927606398
NM_000330.4(RS1):c.548_549dup (p.Ser184fs) rs61753172
NM_000330.4(RS1):c.550T>C (p.Ser184Pro)
NM_000330.4(RS1):c.552C>T (p.Ser184=)
NM_000330.4(RS1):c.554C>A (p.Thr185Lys) rs61753173
NM_000330.4(RS1):c.555G>C (p.Thr185=) rs769781603
NM_000330.4(RS1):c.555G>T (p.Thr185=) rs769781603
NM_000330.4(RS1):c.562A>G (p.Asn188Asp) rs2147189068
NM_000330.4(RS1):c.565C>T (p.Leu189=)
NM_000330.4(RS1):c.567G>A (p.Leu189=) rs2147189059
NM_000330.4(RS1):c.567G>C (p.Leu189=) rs2147189059
NM_000330.4(RS1):c.573_574delinsTT (p.Pro192Ser) rs2147189048
NM_000330.4(RS1):c.574C>A (p.Pro192Thr) rs61753174
NM_000330.4(RS1):c.574C>G (p.Pro192Ala) rs61753174
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.575C>A (p.Pro192His) rs61753175
NM_000330.4(RS1):c.575C>G (p.Pro192Arg) rs61753175
NM_000330.4(RS1):c.575C>T (p.Pro192Leu) rs61753175
NM_000330.4(RS1):c.575_576insT (p.Ile194fs) rs1927604163
NM_000330.4(RS1):c.576C>A (p.Pro192=) rs186334493
NM_000330.4(RS1):c.576_577insT (p.Pro193fs) rs281865350
NM_000330.4(RS1):c.577C>T (p.Pro193Ser) rs281865351
NM_000330.4(RS1):c.577_579del (p.Pro193del)
NM_000330.4(RS1):c.578C>T (p.Pro193Leu) rs281865352
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.580ATC[3] (p.Ile195_Ser196insIle) rs199469701
NM_000330.4(RS1):c.581dup (p.Ile195fs) rs2147189016
NM_000330.4(RS1):c.582C>A (p.Ile194=)
NM_000330.4(RS1):c.582C>T (p.Ile194=)
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000330.4(RS1):c.590G>C (p.Arg197Pro) rs281865355
NM_000330.4(RS1):c.596T>C (p.Ile199Thr) rs281865356
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000330.4(RS1):c.599G>A (p.Arg200His) rs281865358
NM_000330.4(RS1):c.599G>C (p.Arg200Pro)
NM_000330.4(RS1):c.606C>T (p.Ile202=) rs1800003
NM_000330.4(RS1):c.607C>A (p.Pro203Thr) rs1927600619
NM_000330.4(RS1):c.607C>T (p.Pro203Ser)
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.617G>C (p.Trp206Ser) rs2147188942
NM_000330.4(RS1):c.617G>T (p.Trp206Leu)
NM_000330.4(RS1):c.618G>A (p.Trp206Ter) rs281865359
NM_000330.4(RS1):c.619C>A (p.His207Asn)
NM_000330.4(RS1):c.619C>G (p.His207Asp) rs2147188931
NM_000330.4(RS1):c.621C>A (p.His207Gln)
NM_000330.4(RS1):c.621C>G (p.His207Gln) rs281865360
NM_000330.4(RS1):c.621C>T (p.His207=) rs281865360
NM_000330.4(RS1):c.625C>G (p.Arg209Gly) rs281865361
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.626G>A (p.Arg209His) rs281865362
NM_000330.4(RS1):c.629T>A (p.Ile210Asn) rs757697856
NM_000330.4(RS1):c.629T>C (p.Ile210Thr)
NM_000330.4(RS1):c.629T>G (p.Ile210Ser)
NM_000330.4(RS1):c.630T>C (p.Ile210=)
NM_000330.4(RS1):c.631G>A (p.Ala211Thr) rs281865363
NM_000330.4(RS1):c.632C>G (p.Ala211Gly)
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000330.4(RS1):c.637del (p.Arg213fs) rs2147188897
NM_000330.4(RS1):c.638G>A (p.Arg213Gln) rs281865364
NM_000330.4(RS1):c.638G>T (p.Arg213Leu) rs281865364
NM_000330.4(RS1):c.639del (p.Met214fs) rs281865366
NM_000330.4(RS1):c.643G>A (p.Glu215Lys) rs281865367
NM_000330.4(RS1):c.643G>C (p.Glu215Gln) rs281865367
NM_000330.4(RS1):c.644A>T (p.Glu215Val) rs2147188877
NM_000330.4(RS1):c.647T>C (p.Leu216Pro) rs281865368
NM_000330.4(RS1):c.648G>A (p.Leu216=)
NM_000330.4(RS1):c.651G>A (p.Leu217=)
NM_000330.4(RS1):c.654G>C (p.Glu218Asp) rs2147188867
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000330.4(RS1):c.655del (p.Cys219fs) rs281865370
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr) rs2147188856
NM_000330.4(RS1):c.656_657delinsAG (p.Cys219Ter)
NM_000330.4(RS1):c.658_*7del (p.Val220fs) rs281865371
NM_000330.4(RS1):c.663dup (p.Lys222fs) rs199469700
NM_000330.4(RS1):c.666G>A (p.Lys222=) rs1800004
NM_000330.4(RS1):c.666G>C (p.Lys222Asn) rs1800004
NM_000330.4(RS1):c.667T>C (p.Cys223Arg) rs104894929
NM_000330.4(RS1):c.667T>G (p.Cys223Gly) rs104894929
NM_000330.4(RS1):c.668G>A (p.Cys223Tyr) rs1057517816

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