ClinVar Miner

List of variants in gene PSAT1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.397+100dup rs3842207 0.79210
NM_058179.4(PSAT1):c.740+176T>C rs2039325 0.79176
NM_058179.4(PSAT1):c.570+44G>T rs944513 0.77720
NM_058179.4(PSAT1):c.60+211C>G rs10746571 0.76528
NM_058179.4(PSAT1):c.398-142T>G rs1537173 0.74941
NM_058179.4(PSAT1):c.869+278T>C rs7028807 0.74879
NM_058179.4(PSAT1):c.741-18T>A rs3780194 0.74689
NM_058179.4(PSAT1):c.869+167C>T rs7043123 0.74676
NM_058179.4(PSAT1):c.869+300C>T rs10735532 0.74600
NM_058179.4(PSAT1):c.61-115A>T rs10121107 0.69182
NM_058179.4(PSAT1):c.122-255G>A rs7855063 0.65693
NM_058179.4(PSAT1):c.191+157C>T rs3739473 0.65559
NM_058179.4(PSAT1):c.570+197C>T rs10116231 0.41776
NM_058179.4(PSAT1):c.1008-277C>T rs10780231 0.40258
NM_058179.4(PSAT1):c.740+111A>G rs2039324 0.30400
NM_058179.4(PSAT1):c.740+110C>T rs2039323 0.30238
NM_058179.4(PSAT1):c.741-77C>A rs3780193 0.20347
NM_058179.4(PSAT1):c.740+130T>G rs61143519 0.17843
NM_058179.4(PSAT1):c.571-165G>A rs3739475 0.14943
NM_058179.4(PSAT1):c.571-80C>T rs3739476 0.14904
NM_058179.4(PSAT1):c.61-126G>A rs3824360 0.13640
NM_058179.4(PSAT1):c.191+131C>T rs3739472 0.13627
NM_058179.4(PSAT1):c.398-209G>A rs17064299 0.12959
NM_058179.4(PSAT1):c.571-283G>A rs3824361 0.12545
NM_058179.4(PSAT1):c.398-85C>T rs41277899 0.11667
NM_058179.4(PSAT1):c.1008-296G>A rs12379053 0.10800
NM_058179.4(PSAT1):c.1007+167A>C rs3758203 0.10571
NM_058179.4(PSAT1):c.870-138G>A rs79095858 0.07620
NM_058179.4(PSAT1):c.*836A>G rs41277905 0.00996
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897 0.00971
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685 0.00213
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) rs148080212 0.00105
NM_058179.4(PSAT1):c.445G>A (p.Val149Met) rs142975997 0.00056
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) rs114496656 0.00041
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg) rs367577346 0.00027
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538 0.00016
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905 0.00011
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308 0.00010
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723 0.00010
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro) rs115263053 0.00009
NM_058179.4(PSAT1):c.733T>C (p.Cys245Arg) rs1305396127 0.00008
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr) rs764335664 0.00006
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp) rs150812587 0.00005
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) rs140897665 0.00005
NM_058179.4(PSAT1):c.638G>A (p.Arg213His) rs759482379 0.00005
NM_058179.4(PSAT1):c.1031C>G (p.Ser344Cys) rs370557155 0.00004
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met) rs149101687 0.00004
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val) rs376602543 0.00004
NM_058179.4(PSAT1):c.845T>C (p.Ile282Thr) rs774644137 0.00004
NM_058179.4(PSAT1):c.1025G>A (p.Arg342Gln) rs748711682 0.00003
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) rs756701004 0.00003
NM_058179.4(PSAT1):c.200C>T (p.Pro67Leu) rs373205386 0.00003
NM_058179.4(PSAT1):c.338A>T (p.Glu113Val) rs373888510 0.00003
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204 0.00003
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met) rs369944396 0.00003
NM_058179.4(PSAT1):c.478G>A (p.Val160Met) rs765810685 0.00003
NM_058179.4(PSAT1):c.514G>T (p.Val172Leu) rs778210369 0.00003
NM_058179.4(PSAT1):c.748G>A (p.Val250Ile) rs368071286 0.00003
NM_058179.4(PSAT1):c.870-1G>T rs376824714 0.00003
NM_058179.4(PSAT1):c.926A>G (p.Asn309Ser) rs752613705 0.00003
NM_058179.4(PSAT1):c.1081A>C (p.Met361Leu) rs764651835 0.00002
NM_058179.4(PSAT1):c.209A>G (p.Tyr70Cys) rs756187253 0.00002
NM_058179.4(PSAT1):c.260C>T (p.Pro87Leu) rs772427307 0.00002
NM_058179.4(PSAT1):c.311C>T (p.Thr104Ile) rs370535310 0.00002
NM_058179.4(PSAT1):c.368T>C (p.Ile123Thr) rs777080315 0.00002
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys) rs371706852 0.00002
NM_058179.4(PSAT1):c.616G>A (p.Gly206Arg) rs150920467 0.00002
NM_058179.4(PSAT1):c.637C>T (p.Arg213Cys) rs774223780 0.00002
NM_058179.4(PSAT1):c.746A>G (p.Tyr249Cys) rs763450967 0.00002
NM_058179.4(PSAT1):c.94T>C (p.Tyr32His) rs373736401 0.00002
NM_058179.4(PSAT1):c.1004A>G (p.His335Arg) rs778387460 0.00001
NM_058179.4(PSAT1):c.1036T>C (p.Tyr346His) rs1219634342 0.00001
NM_058179.4(PSAT1):c.1037A>G (p.Tyr346Cys) rs771325939 0.00001
NM_058179.4(PSAT1):c.1039A>C (p.Asn347His) rs775393361 0.00001
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp) rs761364177 0.00001
NM_058179.4(PSAT1):c.1075G>A (p.Ala359Thr) rs1460752899 0.00001
NM_058179.4(PSAT1):c.1094T>G (p.Leu365Trp) rs758027795 0.00001
NM_058179.4(PSAT1):c.109A>G (p.Ile37Val) rs141408971 0.00001
NM_058179.4(PSAT1):c.1103A>G (p.His368Arg) rs781632079 0.00001
NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn) rs752037444 0.00001
NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln) rs759948216 0.00001
NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn) rs768121356 0.00001
NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala) rs1465646885 0.00001
NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly) rs754006053 0.00001
NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser) rs757471190 0.00001
NM_058179.4(PSAT1):c.203A>G (p.Asp68Gly) rs748059814 0.00001
NM_058179.4(PSAT1):c.239G>A (p.Cys80Tyr) rs1488591230 0.00001
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser) rs745532660 0.00001
NM_058179.4(PSAT1):c.272T>C (p.Ile91Thr) rs908759049 0.00001
NM_058179.4(PSAT1):c.284C>A (p.Ala95Glu) rs764639970 0.00001
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) rs118203967 0.00001
NM_058179.4(PSAT1):c.304G>A (p.Val102Met) rs1354203523 0.00001
NM_058179.4(PSAT1):c.307G>C (p.Val103Leu) rs377282696 0.00001
NM_058179.4(PSAT1):c.316G>T (p.Ala106Ser) rs767276592 0.00001
NM_058179.4(PSAT1):c.326C>T (p.Ala109Val) rs756099295 0.00001
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln) rs753331548 0.00001
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val) rs778303528 0.00001
NM_058179.4(PSAT1):c.373C>T (p.His125Tyr) rs997904439 0.00001
NM_058179.4(PSAT1):c.494T>C (p.Ile165Thr) rs751138256 0.00001
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) rs767197857 0.00001
NM_058179.4(PSAT1):c.509G>C (p.Gly170Ala) rs1267866030 0.00001
NM_058179.4(PSAT1):c.540C>G (p.Asn180Lys) rs1202698690 0.00001
NM_058179.4(PSAT1):c.605T>C (p.Val202Ala) rs768990312 0.00001
NM_058179.4(PSAT1):c.607G>C (p.Gly203Arg) rs1253727919 0.00001
NM_058179.4(PSAT1):c.649C>G (p.Leu217Val) rs771502157 0.00001
NM_058179.4(PSAT1):c.650T>C (p.Leu217Pro) rs775130332 0.00001
NM_058179.4(PSAT1):c.653G>A (p.Gly218Glu) rs763853118 0.00001
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu) rs1479566156 0.00001
NM_058179.4(PSAT1):c.706A>C (p.Asn236His) rs138085071 0.00001
NM_058179.4(PSAT1):c.797C>T (p.Ala266Val) rs779731736 0.00001
NM_058179.4(PSAT1):c.806A>T (p.Lys269Met) rs143194678 0.00001
NM_058179.4(PSAT1):c.808C>T (p.Leu270Phe) rs780837265 0.00001
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) rs1057515671 0.00001
NM_058179.4(PSAT1):c.826C>G (p.Gln276Glu) rs748962329 0.00001
NM_058179.4(PSAT1):c.840G>T (p.Glu280Asp) rs1182144804 0.00001
NM_058179.4(PSAT1):c.841A>T (p.Ile281Phe) rs1428540462 0.00001
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser) rs760073635 0.00001
NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys) rs553281141 0.00001
NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg) rs573647836 0.00001
NM_058179.4(PSAT1):c.877G>A (p.Val293Met) rs1271264402 0.00001
NM_058179.4(PSAT1):c.887A>C (p.Gln296Pro) rs1479206103 0.00001
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp) rs1198065787 0.00001
NM_058179.4(PSAT1):c.917G>A (p.Arg306His) rs373209481 0.00001
NM_058179.4(PSAT1):c.925A>G (p.Asn309Asp) rs1304927717 0.00001
NM_058179.4(PSAT1):c.933A>T (p.Lys311Asn) rs756187059 0.00001
NM_058179.4(PSAT1):c.937G>C (p.Asp313His) rs777406765 0.00001
NM_058179.4(PSAT1):c.956G>A (p.Arg319Lys) rs1388260896 0.00001
NM_058179.4(PSAT1):c.97A>G (p.Lys33Glu) rs1475269547 0.00001
NM_058179.4(PSAT1):c.988T>G (p.Leu330Val) rs1294676184 0.00001
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val) rs781513295
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.1027G>C (p.Ala343Pro) rs773407304
NM_058179.4(PSAT1):c.1027G>T (p.Ala343Ser) rs773407304
NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val) rs760503466
NM_058179.4(PSAT1):c.1060G>A (p.Val354Ile) rs776369732
NM_058179.4(PSAT1):c.107del (p.Gly36fs) rs587777747
NM_058179.4(PSAT1):c.1081A>T (p.Met361Leu) rs764651835
NM_058179.4(PSAT1):c.1088A>C (p.Lys363Thr) rs1417176374
NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile) rs1179781327
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly) rs539796298
NM_058179.4(PSAT1):c.1098G>C (p.Glu366Asp) rs751244621
NM_058179.4(PSAT1):c.1098G>T (p.Glu366Asp) rs751244621
NM_058179.4(PSAT1):c.1106A>G (p.Gln369Arg) rs753080192
NM_058179.4(PSAT1):c.124A>G (p.Met42Val) rs1212801380
NM_058179.4(PSAT1):c.127A>C (p.Ser43Arg) rs1828113407
NM_058179.4(PSAT1):c.129T>A (p.Ser43Arg) rs1828113460
NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg) rs1828113460
NM_058179.4(PSAT1):c.132C>A (p.His44Gln) rs762717142
NM_058179.4(PSAT1):c.132C>G (p.His44Gln) rs762717142
NM_058179.4(PSAT1):c.135G>C (p.Arg45Ser) rs372097888
NM_058179.4(PSAT1):c.135G>T (p.Arg45Ser) rs372097888
NM_058179.4(PSAT1):c.136T>C (p.Ser46Pro) rs1198701902
NM_058179.4(PSAT1):c.153G>C (p.Lys51Asn) rs768121356
NM_058179.4(PSAT1):c.161A>T (p.Asn54Ile) rs1395392907
NM_058179.4(PSAT1):c.163A>G (p.Asn55Asp) rs756181620
NM_058179.4(PSAT1):c.164A>G (p.Asn55Ser) rs777856520
NM_058179.4(PSAT1):c.179T>C (p.Val60Ala) rs1331127729
NM_058179.4(PSAT1):c.182G>A (p.Arg61Gln) rs754847104
NM_058179.4(PSAT1):c.182G>T (p.Arg61Leu) rs754847104
NM_058179.4(PSAT1):c.209A>C (p.Tyr70Ser) rs756187253
NM_058179.4(PSAT1):c.213G>C (p.Lys71Asn) rs542332287
NM_058179.4(PSAT1):c.213G>T (p.Lys71Asn) rs542332287
NM_058179.4(PSAT1):c.233G>C (p.Gly78Ala) rs1270171186
NM_058179.4(PSAT1):c.251G>A (p.Ser84Asn) rs1476912688
NM_058179.4(PSAT1):c.259C>T (p.Pro87Ser) rs11540974
NM_058179.4(PSAT1):c.278T>C (p.Leu93Ser) rs1339060546
NM_058179.4(PSAT1):c.290G>A (p.Arg97Lys) rs1284267959
NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr) rs776667030
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.307G>A (p.Val103Met) rs377282696
NM_058179.4(PSAT1):c.307G>T (p.Val103Leu) rs377282696
NM_058179.4(PSAT1):c.316G>A (p.Ala106Thr) rs767276592
NM_058179.4(PSAT1):c.322T>C (p.Ser108Pro) rs752493491
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr) rs753859574
NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser) rs753859574
NM_058179.4(PSAT1):c.341A>C (p.Glu114Ala) rs771692853
NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn) rs41277897
NM_058179.4(PSAT1):c.348G>T (p.Lys116Asn) rs41277897
NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser) rs1013336793
NM_058179.4(PSAT1):c.382C>T (p.Leu128Phe) rs763223623
NM_058179.4(PSAT1):c.385G>T (p.Gly129Trp) rs1242137800
NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu) rs368015309
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.404C>T (p.Pro135Leu) rs761832791
NM_058179.4(PSAT1):c.429C>A (p.Asn143Lys) rs147534153
NM_058179.4(PSAT1):c.429C>G (p.Asn143Lys) rs147534153
NM_058179.4(PSAT1):c.432del (p.Asp145fs) rs1554686365
NM_058179.4(PSAT1):c.439T>A (p.Ser147Thr) rs751156725
NM_058179.4(PSAT1):c.439T>G (p.Ser147Ala) rs751156725
NM_058179.4(PSAT1):c.440C>A (p.Ser147Tyr) rs781533171
NM_058179.4(PSAT1):c.444C>T (p.Tyr148=)
NM_058179.4(PSAT1):c.44C>T (p.Ala15Val) rs1554685353
NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys) rs1329274216
NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr) rs199619145
NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser) rs199619145
NM_058179.4(PSAT1):c.493A>C (p.Ile165Leu) rs1292398069
NM_058179.4(PSAT1):c.493A>T (p.Ile165Leu) rs1292398069
NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn) rs547331710
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) rs547331710
NM_058179.4(PSAT1):c.514G>C (p.Val172Leu) rs778210369
NM_058179.4(PSAT1):c.529A>G (p.Met177Val) rs779118343
NM_058179.4(PSAT1):c.530T>C (p.Met177Thr) rs1423962557
NM_058179.4(PSAT1):c.531G>A (p.Met177Ile) rs745989587
NM_058179.4(PSAT1):c.531G>C (p.Met177Ile) rs745989587
NM_058179.4(PSAT1):c.531G>T (p.Met177Ile) rs745989587
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.4(PSAT1):c.540C>A (p.Asn180Lys) rs1202698690
NM_058179.4(PSAT1):c.541T>A (p.Phe181Ile) rs1293441395
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.566C>G (p.Ser189Cys) rs747281164
NM_058179.4(PSAT1):c.569A>T (p.Lys190Met) rs140623746
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.571T>C (p.Phe191Leu) rs1259661382
NM_058179.4(PSAT1):c.573T>A (p.Phe191Leu) rs1828216337
NM_058179.4(PSAT1):c.573T>G (p.Phe191Leu) rs1828216337
NM_058179.4(PSAT1):c.592G>T (p.Ala198Ser) rs747134869
NM_058179.4(PSAT1):c.610T>G (p.Ser204Ala) rs1460550190
NM_058179.4(PSAT1):c.616G>C (p.Gly206Arg) rs150920467
NM_058179.4(PSAT1):c.629T>C (p.Val210Ala) rs1000650798
NM_058179.4(PSAT1):c.62T>A (p.Val21Glu) rs180707620
NM_058179.4(PSAT1):c.62T>G (p.Val21Gly) rs180707620
NM_058179.4(PSAT1):c.65T>G (p.Leu22Trp) rs771968396
NM_058179.4(PSAT1):c.662T>C (p.Leu221Pro) rs762233132
NM_058179.4(PSAT1):c.668A>C (p.Glu223Ala) rs1260642306
NM_058179.4(PSAT1):c.670T>C (p.Cys224Arg) rs912171860
NM_058179.4(PSAT1):c.673C>G (p.Pro225Ala) rs1239589266
NM_058179.4(PSAT1):c.682C>A (p.Leu228Met) rs1434764066
NM_058179.4(PSAT1):c.694G>A (p.Val232Met) rs1427229916
NM_058179.4(PSAT1):c.695T>A (p.Val232Glu) rs748340409
NM_058179.4(PSAT1):c.697C>A (p.Gln233Lys) rs778681479
NM_058179.4(PSAT1):c.709A>G (p.Ser237Gly) rs774836528
NM_058179.4(PSAT1):c.712T>C (p.Ser238Pro) rs1388982421
NM_058179.4(PSAT1):c.73A>G (p.Ile25Val) rs760631386
NM_058179.4(PSAT1):c.748G>C (p.Val250Leu) rs368071286
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala) rs572302367
NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr) rs776757559
NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser) rs776757559
NM_058179.4(PSAT1):c.801G>A (p.Met267Ile) rs746900558
NM_058179.4(PSAT1):c.801G>C (p.Met267Ile) rs746900558
NM_058179.4(PSAT1):c.801G>T (p.Met267Ile) rs746900558
NM_058179.4(PSAT1):c.803A>C (p.Glu268Ala) rs1243583213
NM_058179.4(PSAT1):c.814T>A (p.Ser272Thr) rs769540951
NM_058179.4(PSAT1):c.815C>G (p.Ser272Cys) rs777528851
NM_058179.4(PSAT1):c.824C>G (p.Ser275Cys) rs1445403505
NM_058179.4(PSAT1):c.829A>G (p.Thr277Ala) rs771260128
NM_058179.4(PSAT1):c.840G>C (p.Glu280Asp) rs1182144804
NM_058179.4(PSAT1):c.854C>A (p.Ser285Tyr) rs1406396943
NM_058179.4(PSAT1):c.869+69T>G rs7028509
NM_058179.4(PSAT1):c.870-139G>C rs10867184
NM_058179.4(PSAT1):c.870-4T>C rs775923430
NM_058179.4(PSAT1):c.878T>C (p.Val293Ala) rs776760933
NM_058179.4(PSAT1):c.900G>C (p.Lys300Asn) rs1423905834
NM_058179.4(PSAT1):c.900G>T (p.Lys300Asn) rs1423905834
NM_058179.4(PSAT1):c.905A>G (p.Asn302Ser) rs1828527111
NM_058179.4(PSAT1):c.90A>G (p.Leu30=) rs1587632398
NM_058179.4(PSAT1):c.917G>T (p.Arg306Leu) rs373209481
NM_058179.4(PSAT1):c.919A>G (p.Ile307Val) rs1405703333
NM_058179.4(PSAT1):c.91G>A (p.Asp31Asn) rs1192067309
NM_058179.4(PSAT1):c.933A>C (p.Lys311Asn) rs756187059
NM_058179.4(PSAT1):c.952A>G (p.Lys318Glu) rs1229836649
NM_058179.4(PSAT1):c.983A>G (p.Asn328Ser) rs756899947
NM_058179.4(PSAT1):c.98A>G (p.Lys33Arg) rs1166260098
NM_058179.4(PSAT1):c.997A>C (p.Lys333Gln) rs1489985091

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