ClinVar Miner

List of variants in gene NEB reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001164508.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687 0.08083
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=) rs796103760 0.02016
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241 0.01414
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00870
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609 0.00327
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_001164508.2(NEB):c.14807A>G (p.Asn4936Ser) rs139930220 0.00289
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001164508.2(NEB):c.19944+3G>A rs115142419 0.00250
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889 0.00237
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001164508.2(NEB):c.14811T>C (p.Ala4937=) rs71415153 0.00233
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_001164508.2(NEB):c.675G>A (p.Pro225=) rs138528093 0.00225
NM_001164508.2(NEB):c.13779A>G (p.Leu4593=) rs1057522591 0.00209
NM_001164508.2(NEB):c.16192G>A (p.Asp5398Asn) rs750810441 0.00204
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001164508.2(NEB):c.18579+6T>C rs116189169 0.00180
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_001164508.2(NEB):c.3639C>T (p.Val1213=) rs74320183 0.00164
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223 0.00162
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=) rs187211085 0.00156
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His) rs35555631 0.00156
NM_001164508.2(NEB):c.19836+10C>G rs148814261 0.00148
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.19665T>C (p.Ile6555=) rs150842230 0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=) rs143456239 0.00136
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=) rs369897667 0.00125
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649 0.00114
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692 0.00111
NM_001164508.2(NEB):c.16569G>A (p.Val5523=) rs764449277 0.00109
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=) rs368719373 0.00108
NM_001164508.2(NEB):c.2604G>T (p.Leu868=) rs201698008 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512 0.00107
NM_001164508.2(NEB):c.6808-11T>C rs199804593 0.00106
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_001164508.2(NEB):c.18262-13C>T rs374553944 0.00102
NM_001164508.2(NEB):c.8643C>T (p.Ser2881=) rs150135749 0.00100
NM_001164508.2(NEB):c.3801T>C (p.Asp1267=) rs182725059 0.00096
NM_001164508.2(NEB):c.9315C>A (p.Val3105=) rs371174518 0.00096
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His) rs201111610 0.00092
NM_001164508.2(NEB):c.9354A>G (p.Thr3118=) rs187637065 0.00089
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053 0.00083
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316 0.00078
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001164508.2(NEB):c.14914T>A (p.Ser4972Thr) rs776187492 0.00071
NM_001164508.2(NEB):c.4720-18C>T rs79402065 0.00071
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298 0.00069
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855 0.00066
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00063
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00061
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys) rs755875238 0.00054
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_001164508.2(NEB):c.1974T>C (p.Asp658=) rs199528953 0.00046
NM_001164508.2(NEB):c.11067C>T (p.Asn3689=) rs200427401 0.00044
NM_001164508.2(NEB):c.18891+17G>A rs376129412 0.00044
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_001164508.2(NEB):c.20466+7G>A rs201684605 0.00035
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=) rs35946547 0.00034
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00033
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala) rs147476634 0.00032
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 0.00029
NM_001164508.2(NEB):c.15827C>T (p.Pro5276Leu) rs1057521772 0.00028
NM_001164508.2(NEB):c.12966C>T (p.Asp4322=) rs1334385911 0.00026
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001164508.2(NEB):c.4398A>G (p.Ala1466=) rs368136951 0.00022
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00021
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 0.00020
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001164508.2(NEB):c.20355C>T (p.Asp6785=) rs140323673 0.00017
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001164508.2(NEB):c.10347+18A>G rs200915591 0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr) rs368328716 0.00014
NM_001164508.2(NEB):c.16269C>T (p.Ala5423=) rs542916866 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001164508.2(NEB):c.1119G>A (p.Arg373=) rs200914626 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.9195C>T (p.His3065=) rs374734631 0.00013
NM_001164508.2(NEB):c.15715C>T (p.Arg5239Cys) rs1346076883 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974 0.00011
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.5967C>T (p.Asn1989=) rs371151246 0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=) rs369429046 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=) rs200122580 0.00009
NM_001164508.2(NEB):c.9345C>T (p.His3115=) rs367739638 0.00009
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.3918G>A (p.Lys1306=) rs368682145 0.00008
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=) rs370965998 0.00008
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu) rs200468391 0.00007
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025 0.00006
NM_001164508.2(NEB):c.11199T>C (p.Ala3733=) rs756871030 0.00006
NM_001164508.2(NEB):c.1152C>T (p.Asp384=) rs767328072 0.00006
NM_001164508.2(NEB):c.11850C>T (p.His3950=) rs777244382 0.00006
NM_001164508.2(NEB):c.18694-7A>T rs373371474 0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=) rs751747575 0.00006
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.19315-4A>G rs778306769 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val) rs761956085 0.00005
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844 0.00005
NM_001164508.2(NEB):c.14228G>A (p.Arg4743His) rs527746468 0.00004
NM_001164508.2(NEB):c.17496C>T (p.Ser5832=) rs746291431 0.00004
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00004
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057 0.00004
NM_001164508.2(NEB):c.17922G>T (p.Leu5974=) rs1327308371 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.20847G>A (p.Thr6949=) rs759425229 0.00003
NM_001164508.2(NEB):c.8733G>A (p.Val2911=) rs1332714141 0.00003
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro) rs1057523555 0.00002
NM_001164508.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352 0.00002
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=) rs763075598 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=) rs374717947 0.00002
NM_001164508.2(NEB):c.6687A>G (p.Ala2229=) rs747606446 0.00002
NM_001164508.2(NEB):c.9480T>C (p.Asp3160=) rs1475280445 0.00002
NM_001164508.2(NEB):c.12330T>C (p.Asp4110=) rs981354598 0.00001
NM_001164508.2(NEB):c.17229T>C (p.Asn5743=) rs1304618869 0.00001
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178 0.00001
NM_001164508.2(NEB):c.17536-17T>C rs775687645 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.2979T>C (p.Phe993=) rs780408206 0.00001
NM_001164508.2(NEB):c.3519C>T (p.Asp1173=) rs376512820 0.00001
NM_001164508.2(NEB):c.4060A>G (p.Lys1354Glu) rs371454282 0.00001
NM_001164508.2(NEB):c.453T>C (p.Asp151=) rs759482454 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001164508.2(NEB):c.781G>C (p.Asp261His) rs1167204757 0.00001
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=) rs761257246 0.00001
GRCh37/hg19 2q23.3(chr2:152439969-152440280)x0
NM_001164508.2(NEB):c.-128T>G rs771789347
NM_001164508.2(NEB):c.11077-20dup rs749915004
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12497T>C (p.Val4166Ala) rs1579059166
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.12682T>A (p.Tyr4228Asn)
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001164508.2(NEB):c.12855G>A (p.Gln4285=) rs1578941195
NM_001164508.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001164508.2(NEB):c.13107G>A (p.Leu4369=) rs1310978096
NM_001164508.2(NEB):c.13230C>T (p.Ile4410=) rs1488837816
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn) rs1578802735
NM_001164508.2(NEB):c.13647C>G (p.Asp4549Glu) rs2153903057
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.13788+18G>A rs1057523329
NM_001164508.2(NEB):c.13820G>A (p.Arg4607His) rs1553861849
NM_001164508.2(NEB):c.13840G>A (p.Glu4614Lys) rs1553861834
NM_001164508.2(NEB):c.13941C>T (p.Val4647=) rs886038441
NM_001164508.2(NEB):c.13955T>C (p.Val4652Ala) rs1578797641
NM_001164508.2(NEB):c.13987A>T (p.Ser4663Cys) rs1057521768
NM_001164508.2(NEB):c.14049T>C (p.Asp4683=) rs1057521906
NM_001164508.2(NEB):c.14094C>T (p.Ser4698=) rs1578796157
NM_001164508.2(NEB):c.14363A>T (p.Asn4788Ile) rs1279733088
NM_001164508.2(NEB):c.14370G>A (p.Pro4790=) rs747837704
NM_001164508.2(NEB):c.14505C>T (p.Asp4835=)
NM_001164508.2(NEB):c.14514C>A (p.Ser4838Arg) rs1057522066
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=) rs2288217
NM_001164508.2(NEB):c.14662A>G (p.Ser4888Gly) rs1553854474
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.14986C>T (p.Arg4996Cys) rs1553848018
NM_001164508.2(NEB):c.14991C>T (p.Ser4997=) rs2153840996
NM_001164508.2(NEB):c.14992G>A (p.Ala4998Thr) rs1057520912
NM_001164508.2(NEB):c.15073G>A (p.Asp5025Asn) rs1578587703
NM_001164508.2(NEB):c.15086A>C (p.Lys5029Thr) rs200053313
NM_001164508.2(NEB):c.15105C>G (p.Asp5035Glu) rs1553847946
NM_001164508.2(NEB):c.15119G>A (p.Ser5040Asn) rs1578587235
NM_001164508.2(NEB):c.15179A>G (p.His5060Arg) rs886038444
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001164508.2(NEB):c.15246+18G>A rs1553847838
NM_001164508.2(NEB):c.15278G>A (p.Arg5093His) rs1553847671
NM_001164508.2(NEB):c.15298G>A (p.Glu5100Lys) rs1578582389
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.15413T>C (p.Val5138Ala) rs1578581705
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.15507T>C (p.Asp5169=) rs2153837860
NM_001164508.2(NEB):c.15512C>T (p.Pro5171Leu) rs1553847475
NM_001164508.2(NEB):c.15686G>A (p.Arg5229His) rs1269112104
NM_001164508.2(NEB):c.15934G>A (p.Asp5312Asn) rs972580856
NM_001164508.2(NEB):c.16021T>G (p.Leu5341Val) rs796103760
NM_001164508.2(NEB):c.16032T>C (p.Gly5344=) rs2153836369
NM_001164508.2(NEB):c.16091G>A (p.Arg5364His) rs1181822886
NM_001164508.2(NEB):c.16286A>C (p.Lys5429Thr) rs2153832209
NM_001164508.2(NEB):c.16347C>T (p.Ala5449=) rs1578472035
NM_001164508.2(NEB):c.16382T>C (p.Ile5461Thr) rs1250825186
NM_001164508.2(NEB):c.16521G>A (p.Lys5507=)
NM_001164508.2(NEB):c.16530C>T (p.Asn5510=)
NM_001164508.2(NEB):c.16653C>T (p.Pro5551=)
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.18825G>A (p.Gln6275=) rs1577662437
NM_001164508.2(NEB):c.19810G>C (p.Val6604Leu) rs1577221319
NM_001164508.2(NEB):c.19901T>C (p.Val6634Ala) rs771989092
NM_001164508.2(NEB):c.20263-7dup rs763008896
NM_001164508.2(NEB):c.20446C>G (p.Arg6816Gly) rs780644697
NM_001164508.2(NEB):c.20467-12_20467-4dup rs10687343
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_001164508.2(NEB):c.3175T>C (p.Leu1059=) rs1449746588
NM_001164508.2(NEB):c.3420C>A (p.Pro1140=)
NM_001164508.2(NEB):c.426T>C (p.Asp142=) rs200590080
NM_001164508.2(NEB):c.4564T>C (p.Leu1522=)
NM_001164508.2(NEB):c.5032-13dup rs148862132
NM_001164508.2(NEB):c.5628C>G (p.Leu1876=) rs771407375
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001164508.2(NEB):c.7431+1919_7431+1953del rs2154129041
NM_001164508.2(NEB):c.7499T>C (p.Ile2500Thr) rs1389139743
NM_001164508.2(NEB):c.7872C>T (p.Tyr2624=)
NM_001164508.2(NEB):c.8161-4T>G
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
NM_001164508.2(NEB):c.9054C>T (p.Asp3018=) rs748395516
NM_001164508.2(NEB):c.927+14G>A rs1577279380
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001164508.2(NEB):c.9377T>C (p.Val3126Ala) rs1560731497
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001164508.2(NEB):c.9552A>G (p.Lys3184=) rs2154073140
NM_001164508.2(NEB):c.9631G>C (p.Glu3211Gln)

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