ClinVar Miner

List of variants in gene TCN2 studied for Transcobalamin II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 576
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HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_000355.4(TCN2):c.754-31T>C rs2267163 0.63034
NM_000355.4(TCN2):c.*444C>T rs10418 0.26603
NM_000355.4(TCN2):c.753+45_753+46del rs139588634 0.15769
NM_000355.4(TCN2):c.*127C>T rs12160073 0.13925
NM_000355.4(TCN2):c.*82C>T rs12169610 0.13762
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756 0.13702
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049 0.12714
NM_000355.4(TCN2):c.*225A>T rs2072195 0.12516
NM_000355.4(TCN2):c.941-21G>A rs2283873 0.12200
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
NM_000355.4(TCN2):c.*382C>T rs56076607 0.01762
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01306
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752 0.00808
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863 0.00255
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_000355.4(TCN2):c.*381T>G rs149713328 0.00128
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738 0.00108
NM_000355.4(TCN2):c.941-13C>T rs192009509 0.00099
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479 0.00075
NM_000355.4(TCN2):c.427+17C>T rs187924928 0.00066
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026 0.00056
NM_000355.4(TCN2):c.90G>A (p.Leu30=) rs576996415 0.00056
NM_000355.4(TCN2):c.130C>T (p.Arg44Trp) rs374992877 0.00053
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_000355.4(TCN2):c.1229C>G (p.Ala410Gly) rs145807876 0.00031
NM_000355.4(TCN2):c.257+16C>G rs369577877 0.00028
NM_000355.4(TCN2):c.539T>C (p.Leu180Pro) rs142651651 0.00026
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_000355.4(TCN2):c.249C>T (p.Cys83=) rs151327362 0.00021
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_000355.4(TCN2):c.*405T>C rs539828054 0.00019
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415 0.00019
NM_000355.4(TCN2):c.258-16A>G rs374013099 0.00018
NM_000355.4(TCN2):c.572A>G (p.His191Arg) rs151172486 0.00018
NM_000355.4(TCN2):c.940+11T>C rs202139921 0.00017
NM_000355.4(TCN2):c.331G>A (p.Ala111Thr) rs778150805 0.00014
NM_000355.4(TCN2):c.428-15T>C rs371761297 0.00013
NM_000355.4(TCN2):c.580+16C>T rs200683293 0.00013
NM_000355.4(TCN2):c.756C>G (p.Phe252Leu) rs142553702 0.00013
NM_000355.4(TCN2):c.*18C>T rs371703966 0.00012
NM_000355.4(TCN2):c.500A>T (p.His167Leu) rs200303429 0.00012
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys) rs201701227 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000355.4(TCN2):c.*520T>C rs953408654 0.00009
NM_000355.4(TCN2):c.1056G>A (p.Gly352=) rs370869901 0.00009
NM_000355.4(TCN2):c.184A>G (p.Ser62Gly) rs145474456 0.00009
NM_000355.4(TCN2):c.427+18G>A rs373712632 0.00009
NM_000355.4(TCN2):c.883G>A (p.Val295Ile) rs770684965 0.00009
NM_000355.4(TCN2):c.210C>T (p.Asp70=) rs148829072 0.00008
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000355.4(TCN2):c.521G>A (p.Ser174Asn) rs375193056 0.00008
NM_000355.4(TCN2):c.855T>A (p.Asn285Lys) rs376839271 0.00008
NM_000355.4(TCN2):c.1236C>T (p.Tyr412=) rs375447234 0.00007
NM_000355.4(TCN2):c.482T>C (p.Ile161Thr) rs763642038 0.00007
NM_000355.4(TCN2):c.1110T>C (p.Tyr370=) rs369589347 0.00006
NM_000355.4(TCN2):c.139C>A (p.Leu47Met) rs200833932 0.00006
NM_000355.4(TCN2):c.257+13T>A rs375247830 0.00006
NM_000355.4(TCN2):c.391C>T (p.Leu131Phe) rs747887520 0.00006
NM_000355.4(TCN2):c.667A>G (p.Ile223Val) rs144889471 0.00006
NM_000355.4(TCN2):c.1053C>T (p.Ala351=) rs142555281 0.00005
NM_000355.4(TCN2):c.1272G>A (p.Leu424=) rs560391371 0.00005
NM_000355.4(TCN2):c.279C>T (p.Asp93=) rs138467610 0.00005
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639 0.00005
NM_000355.4(TCN2):c.428-2_428-1del rs955351335 0.00005
NM_000355.4(TCN2):c.857C>T (p.Ala286Val) rs149231407 0.00005
NM_000355.4(TCN2):c.970C>T (p.Pro324Ser) rs149299209 0.00005
NM_000355.4(TCN2):c.1089T>G (p.His363Gln) rs772074405 0.00004
NM_000355.4(TCN2):c.114C>T (p.Leu38=) rs377673954 0.00004
NM_000355.4(TCN2):c.225C>T (p.Ser75=) rs776322424 0.00004
NM_000355.4(TCN2):c.282T>C (p.Gly94=) rs766893729 0.00004
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu) rs752901101 0.00004
NM_000355.4(TCN2):c.422C>G (p.Ala141Gly) rs534564986 0.00004
NM_000355.4(TCN2):c.653G>A (p.Arg218Gln) rs759762355 0.00004
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile) rs147738100 0.00004
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys) rs539987014 0.00003
NM_000355.4(TCN2):c.1063G>A (p.Val355Met) rs780429477 0.00003
NM_000355.4(TCN2):c.1107-10C>T rs764096609 0.00003
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe) rs781309237 0.00003
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315 0.00003
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser) rs755866662 0.00003
NM_000355.4(TCN2):c.753+13C>A rs771453023 0.00003
NM_000355.4(TCN2):c.787C>G (p.Leu263Val) rs201848801 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000355.4(TCN2):c.1022C>T (p.Pro341Leu) rs1017195499 0.00002
NM_000355.4(TCN2):c.1039A>T (p.Ile347Phe) rs761778896 0.00002
NM_000355.4(TCN2):c.1139A>C (p.Tyr380Ser) rs746024609 0.00002
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn) rs773473997 0.00002
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) rs757905563 0.00002
NM_000355.4(TCN2):c.258-10C>T rs757142216 0.00002
NM_000355.4(TCN2):c.271G>A (p.Glu91Lys) rs559879608 0.00002
NM_000355.4(TCN2):c.368A>G (p.Lys123Arg) rs368757546 0.00002
NM_000355.4(TCN2):c.390G>A (p.Gln130=) rs565849474 0.00002
NM_000355.4(TCN2):c.568C>T (p.His190Tyr) rs757378346 0.00002
NM_000355.4(TCN2):c.65-8T>C rs773798398 0.00002
NM_000355.4(TCN2):c.652C>T (p.Arg218Trp) rs754057087 0.00002
NM_000355.4(TCN2):c.753+5G>A rs749028271 0.00002
NM_000355.4(TCN2):c.753+8A>G rs778117023 0.00002
NM_000355.4(TCN2):c.846C>T (p.Ala282=) rs745306636 0.00002
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe) rs369458782 0.00002
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr) rs754330583 0.00002
NM_000355.4(TCN2):c.944T>C (p.Met315Thr) rs764172898 0.00002
NM_000355.4(TCN2):c.999G>A (p.Thr333=) rs747578310 0.00002
NM_000355.4(TCN2):c.*329G>A rs779850312 0.00001
NM_000355.4(TCN2):c.*37C>T rs531866634 0.00001
NM_000355.4(TCN2):c.*383C>T rs896720175 0.00001
NM_000355.4(TCN2):c.1062C>T (p.Thr354=) rs770733287 0.00001
NM_000355.4(TCN2):c.1084G>C (p.Ala362Pro) rs1237571997 0.00001
NM_000355.4(TCN2):c.1086C>G (p.Ala362=) rs553587653 0.00001
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter) rs1057520098 0.00001
NM_000355.4(TCN2):c.109C>T (p.His37Tyr) rs1326813642 0.00001
NM_000355.4(TCN2):c.1106+1G>A rs766478911 0.00001
NM_000355.4(TCN2):c.1107-4G>A rs1485846164 0.00001
NM_000355.4(TCN2):c.1141T>G (p.Leu381Val) rs2087720823 0.00001
NM_000355.4(TCN2):c.1150G>A (p.Val384Met) rs144166182 0.00001
NM_000355.4(TCN2):c.1163C>T (p.Ala388Val) rs774428161 0.00001
NM_000355.4(TCN2):c.1167C>T (p.Ala389=) rs369722707 0.00001
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) rs367605153 0.00001
NM_000355.4(TCN2):c.1205A>G (p.Asn402Ser) rs749591278 0.00001
NM_000355.4(TCN2):c.1225A>G (p.Ile409Val) rs371229602 0.00001
NM_000355.4(TCN2):c.1230T>C (p.Ala410=) rs1391122960 0.00001
NM_000355.4(TCN2):c.1233C>T (p.Asp411=) rs931753951 0.00001
NM_000355.4(TCN2):c.131G>A (p.Arg44Gln) rs770055978 0.00001
NM_000355.4(TCN2):c.174A>G (p.Leu58=) rs764601482 0.00001
NM_000355.4(TCN2):c.257+8C>T rs747963904 0.00001
NM_000355.4(TCN2):c.270C>T (p.Ser90=) rs775251694 0.00001
NM_000355.4(TCN2):c.274G>A (p.Asp92Asn) rs528704555 0.00001
NM_000355.4(TCN2):c.330C>T (p.Leu110=) rs528481728 0.00001
NM_000355.4(TCN2):c.421G>A (p.Ala141Thr) rs762973293 0.00001
NM_000355.4(TCN2):c.425T>C (p.Ile142Thr) rs200483369 0.00001
NM_000355.4(TCN2):c.427+13C>T rs753858269 0.00001
NM_000355.4(TCN2):c.427+15T>C rs764862389 0.00001
NM_000355.4(TCN2):c.428-7C>T rs778810764 0.00001
NM_000355.4(TCN2):c.428-8C>T rs1412501560 0.00001
NM_000355.4(TCN2):c.430C>T (p.His144Tyr) rs747296848 0.00001
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.4(TCN2):c.465C>T (p.Tyr155=) rs1484880205 0.00001
NM_000355.4(TCN2):c.490C>T (p.Leu164=) rs754253807 0.00001
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn) rs773855163 0.00001
NM_000355.4(TCN2):c.553C>A (p.Pro185Thr) rs759922664 0.00001
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp) rs777945731 0.00001
NM_000355.4(TCN2):c.567C>T (p.Gly189=) rs143343408 0.00001
NM_000355.4(TCN2):c.612C>T (p.Thr204=) rs1237569304 0.00001
NM_000355.4(TCN2):c.65-6T>A rs1602043415 0.00001
NM_000355.4(TCN2):c.660C>G (p.Thr220=) rs2087597240 0.00001
NM_000355.4(TCN2):c.708C>T (p.Pro236=) rs762630641 0.00001
NM_000355.4(TCN2):c.721G>A (p.Gly241Arg) rs1273929738 0.00001
NM_000355.4(TCN2):c.735C>T (p.Ser245=) rs755751120 0.00001
NM_000355.4(TCN2):c.753+19del rs767328402 0.00001
NM_000355.4(TCN2):c.766T>G (p.Ser256Ala) rs752978666 0.00001
NM_000355.4(TCN2):c.87T>C (p.His29=) rs1365708322 0.00001
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile) rs763836785 0.00001
NM_000355.4(TCN2):c.915C>T (p.Ile305=) rs911038185 0.00001
NM_000355.4(TCN2):c.918C>T (p.Phe306=) rs567457027 0.00001
NM_000355.4(TCN2):c.924C>T (p.Asp308=) rs1376577981 0.00001
NM_000355.4(TCN2):c.931G>A (p.Ala311Thr) rs2087605207 0.00001
NM_000355.4(TCN2):c.99G>A (p.Lys33=) rs1485632884 0.00001
NC_000022.10:g.(?_31003319)_(31022508_?)del
NC_000022.10:g.(?_31008840)_(31013502_?)del
NC_000022.11:g.(?_30612853)_(30615807_?)del
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.*173C>T rs896653059
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*283C>G rs538133033
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*415T>G rs560130628
NM_000355.4(TCN2):c.*93G>C rs886057398
NM_000355.4(TCN2):c.1000C>T (p.Leu334=)
NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter) rs771755125
NM_000355.4(TCN2):c.1017C>T (p.Leu339=) rs35997415
NM_000355.4(TCN2):c.1020G>A (p.Leu340=)
NM_000355.4(TCN2):c.1021C>A (p.Pro341Thr) rs746722274
NM_000355.4(TCN2):c.1021C>G (p.Pro341Ala) rs746722274
NM_000355.4(TCN2):c.1025C>T (p.Pro342Leu)
NM_000355.4(TCN2):c.1026G>A (p.Pro342=)
NM_000355.4(TCN2):c.1026G>T (p.Pro342=)
NM_000355.4(TCN2):c.102G>C (p.Leu34Phe)
NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)
NM_000355.4(TCN2):c.1037C>T (p.Ser346Phe)
NM_000355.4(TCN2):c.1038C>T (p.Ser346=)
NM_000355.4(TCN2):c.1041C>A (p.Ile347=) rs750640912
NM_000355.4(TCN2):c.1043C>G (p.Ser348Cys) rs9621049
NM_000355.4(TCN2):c.1045G>C (p.Val349Leu) rs2087628967
NM_000355.4(TCN2):c.1048C>T (p.Leu350=)
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val) rs951348375
NM_000355.4(TCN2):c.1055G>A (p.Gly352Glu) rs778691896
NM_000355.4(TCN2):c.105C>T (p.Gly35=)
NM_000355.4(TCN2):c.1061C>G (p.Thr354Ser)
NM_000355.4(TCN2):c.1065G>A (p.Val355=)
NM_000355.4(TCN2):c.1075C>T (p.Leu359=)
NM_000355.4(TCN2):c.1084G>T (p.Ala362Ser) rs1237571997
NM_000355.4(TCN2):c.1087C>T (p.His363Tyr) rs2087629933
NM_000355.4(TCN2):c.1088A>G (p.His363Arg)
NM_000355.4(TCN2):c.108G>A (p.Gln36=)
NM_000355.4(TCN2):c.1090G>T (p.Glu364Ter)
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1106+10C>T
NM_000355.4(TCN2):c.1106+11C>G
NM_000355.4(TCN2):c.1106+11C>T rs2145548417
NM_000355.4(TCN2):c.1106+13_1106+19del
NM_000355.4(TCN2):c.1106+14C>T
NM_000355.4(TCN2):c.1106+17C>T
NM_000355.4(TCN2):c.1106C>G (p.Thr369Arg)
NM_000355.4(TCN2):c.1107-11C>G
NM_000355.4(TCN2):c.1107-11C>T rs375069878
NM_000355.4(TCN2):c.1107-15C>T
NM_000355.4(TCN2):c.1107-17G>T
NM_000355.4(TCN2):c.1107-18T>C
NM_000355.4(TCN2):c.1107-6C>T
NM_000355.4(TCN2):c.1107-7T>G
NM_000355.4(TCN2):c.1107-9C>T
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys) rs1406364381
NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter) rs1279321570
NM_000355.4(TCN2):c.1121CCT[1] (p.Ser375del) rs2087720255
NM_000355.4(TCN2):c.1122C>T (p.Ala374=)
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
NM_000355.4(TCN2):c.112C>G (p.Leu38Val)
NM_000355.4(TCN2):c.1131A>G (p.Ser377=)
NM_000355.4(TCN2):c.1134C>T (p.Gly378=)
NM_000355.4(TCN2):c.1138T>C (p.Tyr380His) rs2087720717
NM_000355.4(TCN2):c.1139A>G (p.Tyr380Cys) rs746024609
NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter) rs2087720794
NM_000355.4(TCN2):c.1149C>T (p.Ser383=)
NM_000355.4(TCN2):c.114C>G (p.Leu38=)
NM_000355.4(TCN2):c.1158G>A (p.Gly386=)
NM_000355.4(TCN2):c.1164G>A (p.Ala388=) rs147747593
NM_000355.4(TCN2):c.1164G>C (p.Ala388=)
NM_000355.4(TCN2):c.116T>C (p.Leu39Ser)
NM_000355.4(TCN2):c.1179G>A (p.Glu393=)
NM_000355.4(TCN2):c.117dup (p.Pro40fs)
NM_000355.4(TCN2):c.1191T>C (p.Leu397=)
NM_000355.4(TCN2):c.1195C>A (p.Arg399=)
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) rs769817524
NM_000355.4(TCN2):c.1196G>C (p.Arg399Pro) rs4820889
NM_000355.4(TCN2):c.1206C>T (p.Asn402=) rs1569045801
NM_000355.4(TCN2):c.120T>C (p.Pro40=)
NM_000355.4(TCN2):c.1212A>G (p.Pro404=)
NM_000355.4(TCN2):c.1222+11G>A
NM_000355.4(TCN2):c.1222+11G>T
NM_000355.4(TCN2):c.1222+19C>T rs2087722409
NM_000355.4(TCN2):c.1222+3G>A
NM_000355.4(TCN2):c.1223-10_1223-9del
NM_000355.4(TCN2):c.1223-15A>C
NM_000355.4(TCN2):c.1223-18C>G
NM_000355.4(TCN2):c.1223-18C>T
NM_000355.4(TCN2):c.1223-19G>C
NM_000355.4(TCN2):c.1223-20T>C
NM_000355.4(TCN2):c.1223-22_1223-20del
NM_000355.4(TCN2):c.1223-5T>G
NM_000355.4(TCN2):c.1223-6C>A
NM_000355.4(TCN2):c.1223-6C>T
NM_000355.4(TCN2):c.1227T>C (p.Ile409=)
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) rs745363222
NM_000355.4(TCN2):c.1251A>C (p.Gly417=)
NM_000355.4(TCN2):c.1263G>A (p.Glu421=) rs1385370129
NM_000355.4(TCN2):c.1266G>A (p.Leu422=)
NM_000355.4(TCN2):c.1282T>G (p.Ter428Glu)
NM_000355.4(TCN2):c.1284G>A (p.Ter428=) rs2145563752
NM_000355.4(TCN2):c.134_155del (p.Leu45fs)
NM_000355.4(TCN2):c.150G>A (p.Leu50=) rs921002639
NM_000355.4(TCN2):c.153C>T (p.Asn51=)
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.156C>T (p.Pro52=)
NM_000355.4(TCN2):c.159C>T (p.Ser53=)
NM_000355.4(TCN2):c.168G>A (p.Val56=) rs2145536712
NM_000355.4(TCN2):c.170G>T (p.Gly57Val)
NM_000355.4(TCN2):c.171C>A (p.Gly57=)
NM_000355.4(TCN2):c.171C>T (p.Gly57=)
NM_000355.4(TCN2):c.172del (p.Leu58fs) rs2145536721
NM_000355.4(TCN2):c.174A>T (p.Leu58=) rs764601482
NM_000355.4(TCN2):c.177C>G (p.Arg59=)
NM_000355.4(TCN2):c.177C>T (p.Arg59=)
NM_000355.4(TCN2):c.180C>T (p.Leu60=)
NM_000355.4(TCN2):c.197G>C (p.Gly66Ala) rs2087531325
NM_000355.4(TCN2):c.201C>G (p.Thr67=)
NM_000355.4(TCN2):c.216C>T (p.Tyr72=)
NM_000355.4(TCN2):c.224G>C (p.Ser75Thr)
NM_000355.4(TCN2):c.230A>G (p.Lys77Arg) rs75680863
NM_000355.4(TCN2):c.236del (p.Gly79fs) rs2087532435
NM_000355.4(TCN2):c.242A>C (p.Gln81Pro) rs2087532634
NM_000355.4(TCN2):c.243G>T (p.Gln81His) rs2087532682
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) rs1602043738
NM_000355.4(TCN2):c.252C>G (p.Leu84=)
NM_000355.4(TCN2):c.257+10C>T
NM_000355.4(TCN2):c.257+12C>T
NM_000355.4(TCN2):c.257+12CT[2]
NM_000355.4(TCN2):c.257+15dup
NM_000355.4(TCN2):c.257+16C>T
NM_000355.4(TCN2):c.257+17T>C
NM_000355.4(TCN2):c.257+7C>G
NM_000355.4(TCN2):c.257+7C>T
NM_000355.4(TCN2):c.258-11C>A rs746958412
NM_000355.4(TCN2):c.258-11C>G
NM_000355.4(TCN2):c.258-11C>T
NM_000355.4(TCN2):c.258-14T>G
NM_000355.4(TCN2):c.258-15C>T
NM_000355.4(TCN2):c.258-18dup
NM_000355.4(TCN2):c.258-1G>A
NM_000355.4(TCN2):c.258-8_258-6dup
NM_000355.4(TCN2):c.258-9T>G rs2145540026
NM_000355.4(TCN2):c.262G>A (p.Ala88Thr)
NM_000355.4(TCN2):c.267C>T (p.Phe89=)
NM_000355.4(TCN2):c.280G>C (p.Gly94Arg) rs11557600
NM_000355.4(TCN2):c.280G>T (p.Gly94Cys) rs11557600
NM_000355.4(TCN2):c.285C>T (p.Asp95=)
NM_000355.4(TCN2):c.288C>T (p.Cys96=)
NM_000355.4(TCN2):c.297G>A (p.Lys99=)
NM_000355.4(TCN2):c.308G>A (p.Gly103Asp)
NM_000355.4(TCN2):c.311A>G (p.Gln104Arg)
NM_000355.4(TCN2):c.312G>A (p.Gln104=)
NM_000355.4(TCN2):c.318C>T (p.Ala106=)
NM_000355.4(TCN2):c.319C>T (p.Leu107Phe)
NM_000355.4(TCN2):c.323A>G (p.Tyr108Cys)
NM_000355.4(TCN2):c.324C>A (p.Tyr108Ter)
NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter)
NM_000355.4(TCN2):c.324C>T (p.Tyr108=)
NM_000355.4(TCN2):c.325C>T (p.Leu109=)
NM_000355.4(TCN2):c.327G>A (p.Leu109=)
NM_000355.4(TCN2):c.327G>T (p.Leu109=)
NM_000355.4(TCN2):c.330C>A (p.Leu110=)
NM_000355.4(TCN2):c.334C>G (p.Leu112Val) rs777103002
NM_000355.4(TCN2):c.340G>A (p.Ala114Thr)
NM_000355.4(TCN2):c.342C>T (p.Ala114=)
NM_000355.4(TCN2):c.343A>G (p.Asn115Asp)
NM_000355.4(TCN2):c.344del (p.Asn115fs)
NM_000355.4(TCN2):c.345C>T (p.Asn115=)
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
NM_000355.4(TCN2):c.353T>G (p.Phe118Cys) rs199728304
NM_000355.4(TCN2):c.354T>C (p.Phe118=)
NM_000355.4(TCN2):c.358_359del (p.Arg120fs)
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp) rs1602045889
NM_000355.4(TCN2):c.364C>T (p.His122Tyr) rs373115973
NM_000355.4(TCN2):c.372G>C (p.Gly124=)
NM_000355.4(TCN2):c.376A>G (p.Arg126Gly) rs552020145
NM_000355.4(TCN2):c.378G>C (p.Arg126Ser)
NM_000355.4(TCN2):c.380del (p.Leu127fs)
NM_000355.4(TCN2):c.381G>A (p.Leu127=) rs2145540343
NM_000355.4(TCN2):c.402C>T (p.Phe134=) rs781606712
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.416A>G (p.Lys139Arg)
NM_000355.4(TCN2):c.420_421del (p.Arg140fs)
NM_000355.4(TCN2):c.423C>T (p.Ala141=)
NM_000355.4(TCN2):c.426T>C (p.Ile142=)
NM_000355.4(TCN2):c.426del (p.Ile142fs) rs2087564577
NM_000355.4(TCN2):c.427+10C>T
NM_000355.4(TCN2):c.427+12C>G
NM_000355.4(TCN2):c.427+17C>A
NM_000355.4(TCN2):c.427+18G>C
NM_000355.4(TCN2):c.427+18G>T rs373712632
NM_000355.4(TCN2):c.427+20T>C
NM_000355.4(TCN2):c.427+2T>G rs606231119
NM_000355.4(TCN2):c.427+3G>A
NM_000355.4(TCN2):c.427+7A>G
NM_000355.4(TCN2):c.427+8G>A
NM_000355.4(TCN2):c.427+8G>T
NM_000355.4(TCN2):c.427+9A>G
NM_000355.4(TCN2):c.428-10T>C rs2145542622
NM_000355.4(TCN2):c.428-10dup rs747673857
NM_000355.4(TCN2):c.428-11T>G
NM_000355.4(TCN2):c.428-14T>G
NM_000355.4(TCN2):c.428-17_428-16del rs754484246
NM_000355.4(TCN2):c.428-17_428-16dup
NM_000355.4(TCN2):c.428-18dup
NM_000355.4(TCN2):c.428-19_428-18del
NM_000355.4(TCN2):c.428-2A>G rs2087581122
NM_000355.4(TCN2):c.428-4_428-3del
NM_000355.4(TCN2):c.428-5C>G
NM_000355.4(TCN2):c.428-5C>T
NM_000355.4(TCN2):c.428-7C>G
NM_000355.4(TCN2):c.428-9C>A
NM_000355.4(TCN2):c.428-9C>T
NM_000355.4(TCN2):c.429G>T (p.Gly143=)
NM_000355.4(TCN2):c.433G>A (p.Asp145Asn)
NM_000355.4(TCN2):c.441G>A (p.Lys147=)
NM_000355.4(TCN2):c.442G>T (p.Gly148Cys)
NM_000355.4(TCN2):c.445C>T (p.His149Tyr)
NM_000355.4(TCN2):c.447C>A (p.His149Gln) rs770630089
NM_000355.4(TCN2):c.448C>G (p.Pro150Ala) rs776493564
NM_000355.4(TCN2):c.462C>T (p.Tyr154=)
NM_000355.4(TCN2):c.463dup (p.Tyr155fs)
NM_000355.4(TCN2):c.466C>T (p.Gln156Ter)
NM_000355.4(TCN2):c.474C>G (p.Gly158=)
NM_000355.4(TCN2):c.475C>T (p.Leu159=)
NM_000355.4(TCN2):c.484C>T (p.Leu162=)
NM_000355.4(TCN2):c.486G>A (p.Leu162=) rs199546693
NM_000355.4(TCN2):c.489C>T (p.Ala163=)
NM_000355.4(TCN2):c.494_495del (p.Cys165fs)
NM_000355.4(TCN2):c.504G>A (p.Gln168=)
NM_000355.4(TCN2):c.507G>A (p.Lys169=)
NM_000355.4(TCN2):c.508C>T (p.Arg170Trp)
NM_000355.4(TCN2):c.511G>A (p.Val171Ile)
NM_000355.4(TCN2):c.525G>C (p.Val175=)
NM_000355.4(TCN2):c.538C>T (p.Leu180=)
NM_000355.4(TCN2):c.540G>A (p.Leu180=)
NM_000355.4(TCN2):c.559C>T (p.His187Tyr) rs1295178933
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.565G>A (p.Gly189Ser)
NM_000355.4(TCN2):c.565G>T (p.Gly189Cys)
NM_000355.4(TCN2):c.569A>G (p.His190Arg)
NM_000355.4(TCN2):c.570C>T (p.His190=)
NM_000355.4(TCN2):c.580+10T>C
NM_000355.4(TCN2):c.580+17G>A rs184174370
NM_000355.4(TCN2):c.580+17G>T
NM_000355.4(TCN2):c.580+1G>C
NM_000355.4(TCN2):c.580+20C>T
NM_000355.4(TCN2):c.580+7A>G
NM_000355.4(TCN2):c.581-15G>A
NM_000355.4(TCN2):c.581-176A>C
NM_000355.4(TCN2):c.581-176A>G
NM_000355.4(TCN2):c.581-176A>T rs372866837
NM_000355.4(TCN2):c.581-20G>A
NM_000355.4(TCN2):c.581-4C>T rs867249218
NM_000355.4(TCN2):c.581-7C>A rs550090290
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.581-8A>T rs7290898
NM_000355.4(TCN2):c.581-8del rs2145544168
NM_000355.4(TCN2):c.581-9dup rs2145544145
NM_000355.4(TCN2):c.582C>G (p.Asp194Glu) rs762023960
NM_000355.4(TCN2):c.582C>T (p.Asp194=)
NM_000355.4(TCN2):c.583A>T (p.Thr195Ser) rs2145544190
NM_000355.4(TCN2):c.585A>G (p.Thr195=)
NM_000355.4(TCN2):c.600C>G (p.Gly200=)
NM_000355.4(TCN2):c.609C>T (p.Phe203=) rs1336980912
NM_000355.4(TCN2):c.616C>T (p.Leu206=)
NM_000355.4(TCN2):c.622C>T (p.Arg208Cys)
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
NM_000355.4(TCN2):c.625T>C (p.Ser209Pro)
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.4(TCN2):c.627A>G (p.Ser209=)
NM_000355.4(TCN2):c.631T>G (p.Phe211Val)
NM_000355.4(TCN2):c.632dup (p.Asn212fs)
NM_000355.4(TCN2):c.638C>T (p.Pro213Leu) rs774581238
NM_000355.4(TCN2):c.641G>T (p.Gly214Val)
NM_000355.4(TCN2):c.643C>A (p.Arg215=) rs35838082
NM_000355.4(TCN2):c.648A>G (p.Arg216=)
NM_000355.4(TCN2):c.649_650del (p.Gln217fs)
NM_000355.4(TCN2):c.65-10C>A
NM_000355.4(TCN2):c.65-10C>T
NM_000355.4(TCN2):c.65-1_65delinsTT rs2145536487
NM_000355.4(TCN2):c.65-6del rs748765421
NM_000355.4(TCN2):c.65-7T>C
NM_000355.4(TCN2):c.65-9T>C
NM_000355.4(TCN2):c.655A>G (p.Ile219Val) rs2087597138
NM_000355.4(TCN2):c.660C>T (p.Thr220=)
NM_000355.4(TCN2):c.662T>C (p.Met221Thr)
NM_000355.4(TCN2):c.666C>T (p.Ala222=)
NM_000355.4(TCN2):c.675A>G (p.Thr225=)
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000355.4(TCN2):c.680G>A (p.Arg227Gln) rs17849434
NM_000355.4(TCN2):c.690C>A (p.Ile230=) rs779288271
NM_000355.4(TCN2):c.691T>C (p.Leu231=)
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945
NM_000355.4(TCN2):c.705C>T (p.Thr235=) rs1016983766
NM_000355.4(TCN2):c.706C>T (p.Pro236Ser) rs1382507371
NM_000355.4(TCN2):c.708C>G (p.Pro236=)
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr) rs755866662
NM_000355.4(TCN2):c.70C>G (p.Pro24Ala) rs755866662
NM_000355.4(TCN2):c.714C>T (p.Gly238=)
NM_000355.4(TCN2):c.716A>G (p.His239Arg) rs1338313632
NM_000355.4(TCN2):c.717C>T (p.His239=)
NM_000355.4(TCN2):c.720T>C (p.Phe240=) rs368425204
NM_000355.4(TCN2):c.720T>G (p.Phe240Leu) rs368425204
NM_000355.4(TCN2):c.729C>T (p.Val243=)
NM_000355.4(TCN2):c.738C>G (p.Thr246=)
NM_000355.4(TCN2):c.741A>G (p.Pro247=)
NM_000355.4(TCN2):c.742T>C (p.Leu248=)
NM_000355.4(TCN2):c.753+14C>T
NM_000355.4(TCN2):c.753+15C>T
NM_000355.4(TCN2):c.753+18G>A
NM_000355.4(TCN2):c.753+20G>A
NM_000355.4(TCN2):c.753+7A>G rs758687066
NM_000355.4(TCN2):c.753+9G>A
NM_000355.4(TCN2):c.754-11T>A
NM_000355.4(TCN2):c.754-12C>T
NM_000355.4(TCN2):c.754-13A>G rs754588956
NM_000355.4(TCN2):c.754-13_754-10del
NM_000355.4(TCN2):c.754-14C>G
NM_000355.4(TCN2):c.754-17C>T
NM_000355.4(TCN2):c.754-18T>C
NM_000355.4(TCN2):c.754-4C>A rs72550761
NM_000355.4(TCN2):c.754-8A>G
NM_000355.4(TCN2):c.754-8_754-7del
NM_000355.4(TCN2):c.754-9dup
NM_000355.4(TCN2):c.756C>T (p.Phe252=)
NM_000355.4(TCN2):c.759C>T (p.Leu253=)
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000355.4(TCN2):c.769C>G (p.Pro257Ala)
NM_000355.4(TCN2):c.772A>G (p.Met258Val) rs781666065
NM_000355.4(TCN2):c.775_776delinsTC (p.Arg259Ser)
NM_000355.4(TCN2):c.776G>A (p.Arg259His) rs1801198
NM_000355.4(TCN2):c.781G>A (p.Ala261Thr)
NM_000355.4(TCN2):c.802C>T (p.Leu268Phe) rs2145544995
NM_000355.4(TCN2):c.808G>A (p.Ala270Thr) rs1329472979
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.81C>T (p.Asp27=)
NM_000355.4(TCN2):c.822G>A (p.Leu274=)
NM_000355.4(TCN2):c.828C>T (p.Ala276=)
NM_000355.4(TCN2):c.837G>A (p.Gln279=)
NM_000355.4(TCN2):c.839A>T (p.Asp280Val)
NM_000355.4(TCN2):c.840T>A (p.Asp280Glu)
NM_000355.4(TCN2):c.843A>T (p.Gly281=) rs979235252
NM_000355.4(TCN2):c.845C>T (p.Ala282Val)
NM_000355.4(TCN2):c.855T>C (p.Asn285=)
NM_000355.4(TCN2):c.858T>G (p.Ala286=) rs988793927
NM_000355.4(TCN2):c.861C>G (p.Leu287=)
NM_000355.4(TCN2):c.861C>T (p.Leu287=)
NM_000355.4(TCN2):c.868T>G (p.Ser290Ala) rs1423032257
NM_000355.4(TCN2):c.86_87del (p.His29fs) rs2087528394
NM_000355.4(TCN2):c.872A>T (p.Gln291Leu) rs2087603700
NM_000355.4(TCN2):c.873G>A (p.Gln291=)
NM_000355.4(TCN2):c.879G>A (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.879G>T (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.882C>A (p.Pro294=)
NM_000355.4(TCN2):c.882del (p.Val295fs) rs2145545140
NM_000355.4(TCN2):c.885T>C (p.Val295=)
NM_000355.4(TCN2):c.886C>G (p.Leu296Val)
NM_000355.4(TCN2):c.888G>A (p.Leu296=)
NM_000355.4(TCN2):c.88C>T (p.Leu30=)
NM_000355.4(TCN2):c.891C>T (p.Asn297=)
NM_000355.4(TCN2):c.892C>T (p.His298Tyr)
NM_000355.4(TCN2):c.895A>G (p.Lys299Glu) rs2087604329
NM_000355.4(TCN2):c.900C>T (p.Thr300=)
NM_000355.4(TCN2):c.910C>T (p.Leu304=)
NM_000355.4(TCN2):c.912G>C (p.Leu304=)
NM_000355.4(TCN2):c.916T>C (p.Phe306Leu)
NM_000355.4(TCN2):c.91G>A (p.Val31Ile) rs2087528743
NM_000355.4(TCN2):c.926G>A (p.Cys309Tyr) rs1396153308
NM_000355.4(TCN2):c.926G>C (p.Cys309Ser) rs1396153308
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000355.4(TCN2):c.936A>G (p.Pro312=)
NM_000355.4(TCN2):c.937C>G (p.Arg313Gly) rs747257199
NM_000355.4(TCN2):c.937C>T (p.Arg313Ter)
NM_000355.4(TCN2):c.940+10C>A
NM_000355.4(TCN2):c.940+303_1106+746delinsCTGG
NM_000355.4(TCN2):c.940+3A>G rs780965553
NM_000355.4(TCN2):c.941-13C>A
NM_000355.4(TCN2):c.941-13C>G
NM_000355.4(TCN2):c.941-14T>C
NM_000355.4(TCN2):c.941-17C>G
NM_000355.4(TCN2):c.941-17C>T
NM_000355.4(TCN2):c.941-18C>T
NM_000355.4(TCN2):c.941-2A>G
NM_000355.4(TCN2):c.941-4A>G
NM_000355.4(TCN2):c.941-5C>T
NM_000355.4(TCN2):c.941-8T>C rs2145547976
NM_000355.4(TCN2):c.941-9_941-5del rs1602050074
NM_000355.4(TCN2):c.953C>T (p.Pro318Leu)
NM_000355.4(TCN2):c.962dup (p.Thr322fs)
NM_000355.4(TCN2):c.964dup (p.Thr322fs)
NM_000355.4(TCN2):c.977C>T (p.Thr326Ile)
NM_000355.4(TCN2):c.981A>G (p.Gln327=)
NM_000355.4(TCN2):c.987C>A (p.Ile329=) rs755892011
NM_000355.4(TCN2):c.987C>G (p.Ile329Met) rs755892011
NM_000355.4(TCN2):c.988A>G (p.Ile330Val) rs1169605273
NM_000355.4(TCN2):c.997dup (p.Thr333fs) rs2145548128

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