ClinVar Miner

List of variants in gene NEB studied for not provided

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Gene type:
ClinVar version:
Total variants: 297
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HGVS dbSNP
NC_000002.12:g.151563817A>G
NC_000002.12:g.151565618G>A
NM_001271208.1(NEB):c.5971-6dupT rs551520922
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.2(NEB):c.-128T>G
NM_001271208.2(NEB):c.10092C>T (p.Pro3364=) rs768708852
NM_001271208.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745
NM_001271208.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034
NM_001271208.2(NEB):c.10233T>C (p.Ala3411=) rs727504033
NM_001271208.2(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.2(NEB):c.10347+6C>T rs141088433
NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.105G>A (p.Thr35=) rs368075131
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11077-19T>C rs4303716
NM_001271208.2(NEB):c.11184del (p.Lys3728fs) rs1553901624
NM_001271208.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.11461A>T (p.Met3821Leu) rs1057524782
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.1152C>T (p.Asp384=)
NM_001271208.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.11754C>T (p.Thr3918=) rs368230090
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127
NM_001271208.2(NEB):c.11806-1G>A rs886041851
NM_001271208.2(NEB):c.11825G>A (p.Trp3942Ter) rs1553887191
NM_001271208.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558
NM_001271208.2(NEB):c.11850C>T (p.His3950=) rs777244382
NM_001271208.2(NEB):c.11982C>A (p.Ile3994=) rs780157705
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
NM_001271208.2(NEB):c.12221dup (p.Thr4075fs) rs1553883480
NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341
NM_001271208.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501
NM_001271208.2(NEB):c.12330T>C (p.Asp4110=)
NM_001271208.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001271208.2(NEB):c.12403_12404AG[1] (p.Arg4135fs) rs1553877885
NM_001271208.2(NEB):c.12497T>C (p.Val4166Ala)
NM_001271208.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001271208.2(NEB):c.1258-7C>G rs371265681
NM_001271208.2(NEB):c.12597G>A (p.Pro4199=)
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13411T>A (p.Tyr4471Asn) rs1057521720
NM_001271208.2(NEB):c.13615G>A (p.Asp4539Asn)
NM_001271208.2(NEB):c.1366-4A>G rs886038438
NM_001271208.2(NEB):c.13955T>C (p.Val4652Ala)
NM_001271208.2(NEB):c.14094C>T (p.Ser4698=)
NM_001271208.2(NEB):c.14323G>T (p.Glu4775Ter) rs1131691787
NM_001271208.2(NEB):c.15073G>A (p.Asp5025Asn)
NM_001271208.2(NEB):c.15119G>A (p.Ser5040Asn)
NM_001271208.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001271208.2(NEB):c.15298G>A (p.Glu5100Lys)
NM_001271208.2(NEB):c.15363G>C (p.Arg5121Ser) rs1553847636
NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.15413T>C (p.Val5138Ala)
NM_001271208.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3]) rs377452683
NM_001271208.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125
NM_001271208.2(NEB):c.15633C>G (p.His5211Gln) rs1560220725
NM_001271208.2(NEB):c.15686G>A (p.Arg5229His)
NM_001271208.2(NEB):c.1570-2A>G rs1553603958
NM_001271208.2(NEB):c.15882C>T (p.Asp5294=) rs1553845691
NM_001271208.2(NEB):c.16192G>A (p.Asp5398Asn) rs750810441
NM_001271208.2(NEB):c.16273C>T (p.Gln5425Ter) rs1064796311
NM_001271208.2(NEB):c.16347C>T (p.Ala5449=)
NM_001271208.2(NEB):c.16396C>G (p.Leu5466Val) rs1394442771
NM_001271208.2(NEB):c.16620T>A (p.Tyr5540Ter) rs886041998
NM_001271208.2(NEB):c.16705-18C>T rs61254943
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328
NM_001271208.2(NEB):c.16824G>C (p.Thr5608=) rs531949723
NM_001271208.2(NEB):c.16875C>T (p.Val5625=) rs757882235
NM_001271208.2(NEB):c.17024G>T (p.Arg5675Leu) rs373850451
NM_001271208.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162
NM_001271208.2(NEB):c.17061C>G (p.Val5687=) rs199756204
NM_001271208.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015
NM_001271208.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641
NM_001271208.2(NEB):c.17262G>A (p.Trp5754Ter) rs1057518200
NM_001271208.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422
NM_001271208.2(NEB):c.17478G>A (p.Met5826Ile)
NM_001271208.2(NEB):c.1748T>C (p.Leu583Pro) rs794727227
NM_001271208.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649
NM_001271208.2(NEB):c.17519C>T (p.Ala5840Val)
NM_001271208.2(NEB):c.17536-17T>C
NM_001271208.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001271208.2(NEB):c.17557_17558del (p.Glu5853fs) rs886044005
NM_001271208.2(NEB):c.17588G>C (p.Arg5863Thr) rs727504032
NM_001271208.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177
NM_001271208.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.1782+4_1782+5del rs398124168
NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483
NM_001271208.2(NEB):c.17922G>T (p.Leu5974=)
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007
NM_001271208.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211
NM_001271208.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210
NM_001271208.2(NEB):c.18410C>T (p.Thr6137Met)
NM_001271208.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225
NM_001271208.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999
NM_001271208.2(NEB):c.18830_18831del (p.Thr6277fs) rs1553762626
NM_001271208.2(NEB):c.18842A>G (p.Glu6281Gly) rs768965998
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18862_18872del (p.Val6288fs) rs886042141
NM_001271208.2(NEB):c.18891+17G>A
NM_001271208.2(NEB):c.18891+1G>A rs1443738549
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19363C>T (p.Pro6455Ser) rs377112785
NM_001271208.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233
NM_001271208.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010
NM_001271208.2(NEB):c.1941G>T (p.Met647Ile) rs759747841
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19477G>C (p.Val6493Leu) rs1233717326
NM_001271208.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585
NM_001271208.2(NEB):c.19544G>A (p.Arg6515His) rs757278862
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19810G>C (p.Val6604Leu)
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.19901T>C (p.Val6634Ala) rs771989092
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.2020G>A (p.Val674Ile) rs775553284
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423
NM_001271208.2(NEB):c.20296G>T (p.Gly6766Cys) rs886042143
NM_001271208.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626
NM_001271208.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144
NM_001271208.2(NEB):c.20577+6G>A rs775513148
NM_001271208.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668
NM_001271208.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123
NM_001271208.2(NEB):c.20858del (p.Ile6953fs) rs1064794461
NM_001271208.2(NEB):c.20892T>G (p.Asp6964Glu) rs1553694845
NM_001271208.2(NEB):c.20956G>C (p.Asp6986His) rs150874422
NM_001271208.2(NEB):c.21229G>A (p.Glu7077Lys) rs886042384
NM_001271208.2(NEB):c.2166A>C (p.Ile722=) rs886042140
NM_001271208.2(NEB):c.218G>A (p.Arg73Gln) rs727504037
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216
NM_001271208.2(NEB):c.2415+1G>A rs1057524581
NM_001271208.2(NEB):c.2415+1G>T rs1057524581
NM_001271208.2(NEB):c.2416-6G>T rs185433570
NM_001271208.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001271208.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.2573C>T (p.Ala858Val) rs372217127
NM_001271208.2(NEB):c.2639G>A (p.Arg880His) rs202026890
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001271208.2(NEB):c.2944-9G>A rs13427102
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_001271208.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=) rs368625295
NM_001271208.2(NEB):c.328G>A (p.Gly110Arg) rs886043647
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403
NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566
NM_001271208.2(NEB):c.3461A>T (p.Asp1154Val) rs727504036
NM_001271208.2(NEB):c.3589_3591AAC[1] (p.Asn1198del) rs886042521
NM_001271208.2(NEB):c.36+1G>T rs1553711195
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519
NM_001271208.2(NEB):c.3775-22T>C rs748941455
NM_001271208.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3901= (p.Tyr1301=) rs6711382
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.3988-2_3988-1delinsTATA rs1553517142
NM_001271208.2(NEB):c.4018A>C (p.Lys1340Gln) rs398124171
NM_001271208.2(NEB):c.403G>A (p.Val135Ile) rs373729655
NM_001271208.2(NEB):c.4127A>G (p.Asn1376Ser) rs1309733626
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4221G>A (p.Gln1407=) rs6709752
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120
NM_001271208.2(NEB):c.4299+7A>G
NM_001271208.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4720-2A>G rs1057518353
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4835G>A (p.Arg1612His) rs534531948
NM_001271208.2(NEB):c.492G>T (p.Ser164=) rs371015050
NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001271208.2(NEB):c.5300C>T (p.Pro1767Leu)
NM_001271208.2(NEB):c.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355
NM_001271208.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437
NM_001271208.2(NEB):c.5854A>G (p.Met1952Val) rs200649387
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.6033C>T (p.Pro2011=) rs773482640
NM_001271208.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444
NM_001271208.2(NEB):c.6135T>C (p.Asp2045=) rs886042654
NM_001271208.2(NEB):c.6184-14T>A rs10173335
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys) rs199907781
NM_001271208.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001271208.2(NEB):c.6415C>G (p.His2139Asp) rs886044641
NM_001271208.2(NEB):c.6486A>G (p.Ile2162Met) rs370994522
NM_001271208.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965
NM_001271208.2(NEB):c.6631T>C (p.Phe2211Leu) rs369374856
NM_001271208.2(NEB):c.6704A>C (p.His2235Pro) rs372800812
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384
NM_001271208.2(NEB):c.7312G>A (p.Ala2438Thr) rs202233025
NM_001271208.2(NEB):c.7335G>C (p.Lys2445Asn) rs886043134
NM_001271208.2(NEB):c.7421A>G (p.Asn2474Ser) rs776901478
NM_001271208.2(NEB):c.7499T>C (p.Ile2500Thr)
NM_001271208.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057
NM_001271208.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063
NM_001271208.2(NEB):c.7748T>C (p.Ile2583Thr) rs886042764
NM_001271208.2(NEB):c.781G>C (p.Asp261His)
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_001271208.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506
NM_001271208.2(NEB):c.7917T>C (p.Asp2639=) rs745410848
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.2(NEB):c.8265+1G>A rs1131691547
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8328C>T (p.Ala2776=) rs373449008
NM_001271208.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001271208.2(NEB):c.8553G>A (p.Gly2851=) rs200624735
NM_001271208.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207
NM_001271208.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_001271208.2(NEB):c.8799T>C (p.Tyr2933=) rs375997049
NM_001271208.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053
NM_001271208.2(NEB):c.8890C>T (p.Arg2964Cys)
NM_001271208.2(NEB):c.8935A>G (p.Ile2979Val) rs1250321534
NM_001271208.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855
NM_001271208.2(NEB):c.9001T>G (p.Tyr3001Asp) rs1553955663
NM_001271208.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
NM_001271208.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647
NM_001271208.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120
NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.2(NEB):c.927+14G>A
NM_001271208.2(NEB):c.9315C>A (p.Val3105=) rs371174518
NM_001271208.2(NEB):c.9363T>C (p.Pro3121=) rs6709886
NM_001271208.2(NEB):c.9377T>C (p.Val3126Ala)
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9576A>G (p.Leu3192=)
NM_001271208.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9620G>A (p.Arg3207His) rs111841612
NM_001271208.2(NEB):c.966G>T (p.Gln322His) rs757803976
NM_001271208.2(NEB):c.9820G>A (p.Val3274Ile) rs201288341
NM_001271208.2(NEB):c.9831+4A>G rs727504035
NM_001271208.2(NEB):c.994G>A (p.Glu332Lys) rs748518353

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