ClinVar Miner

List of variants in gene CDKN1B reported as uncertain significance for neurocristopathy

Included ClinVar conditions (174):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 502
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_004064.5(CDKN1B):c.-386C>T rs886049078 0.00029
NM_004064.5(CDKN1B):c.*935C>T rs778375300 0.00025
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_004064.5(CDKN1B):c.*379T>C rs773825212 0.00019
NM_004064.5(CDKN1B):c.*980G>A rs756925371 0.00018
NM_004064.5(CDKN1B):c.-222C>T rs976297634 0.00017
NM_004064.5(CDKN1B):c.*831A>C rs760437244 0.00016
NM_004064.5(CDKN1B):c.362C>T (p.Ala121Val) rs201685429 0.00016
NM_004064.5(CDKN1B):c.*815C>T rs889221583 0.00014
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_004064.5(CDKN1B):c.*452C>T rs762469235 0.00013
NM_004064.5(CDKN1B):c.281C>T (p.Pro94Leu) rs757917082 0.00011
NM_004064.5(CDKN1B):c.*421A>G rs749773766 0.00009
NM_004064.5(CDKN1B):c.125C>T (p.Thr42Ile) rs200422211 0.00009
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp) rs139727620 0.00006
NM_004064.5(CDKN1B):c.530G>C (p.Gly177Ala) rs146167605 0.00006
NM_004064.5(CDKN1B):c.476A>G (p.Asp159Gly) rs893650334 0.00005
NM_004064.5(CDKN1B):c.104C>T (p.Pro35Leu) rs375297371 0.00004
NM_004064.5(CDKN1B):c.163G>A (p.Ala55Thr) rs759665516 0.00004
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=) rs776643344 0.00004
NM_004064.5(CDKN1B):c.25G>A (p.Gly9Arg) rs755225286 0.00004
NM_004064.5(CDKN1B):c.31C>T (p.Pro11Ser) rs779193240 0.00004
NM_004064.5(CDKN1B):c.383C>T (p.Thr128Met) rs761235464 0.00004
NM_004064.5(CDKN1B):c.*88A>G rs886049082 0.00003
NM_004064.5(CDKN1B):c.*948T>C rs886049086 0.00003
NM_004064.5(CDKN1B):c.-374G>A rs910751645 0.00003
NM_004064.5(CDKN1B):c.-423G>A rs1357145601 0.00003
NM_004064.5(CDKN1B):c.154A>C (p.Met52Leu) rs760647541 0.00003
NM_004064.5(CDKN1B):c.280C>T (p.Pro94Ser) rs146217922 0.00003
NM_004064.5(CDKN1B):c.284C>T (p.Pro95Leu) rs200141048 0.00003
NM_004064.5(CDKN1B):c.350C>T (p.Pro117Leu) rs779099486 0.00003
NM_004064.5(CDKN1B):c.35G>T (p.Ser12Ile) rs775772074 0.00003
NM_004064.5(CDKN1B):c.425C>T (p.Thr142Met) rs771115907 0.00003
NM_004064.5(CDKN1B):c.464C>G (p.Pro155Arg) rs143879243 0.00003
NM_004064.5(CDKN1B):c.475+3A>G rs575418074 0.00003
NM_004064.5(CDKN1B):c.523T>A (p.Ser175Thr) rs753943702 0.00003
NM_004064.5(CDKN1B):c.*844C>G rs1402969388 0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004064.5(CDKN1B):c.20C>G (p.Ser7Cys) rs368157535 0.00002
NM_004064.5(CDKN1B):c.235G>A (p.Val79Met) rs1450787086 0.00002
NM_004064.5(CDKN1B):c.284C>G (p.Pro95Arg) rs200141048 0.00002
NM_004064.5(CDKN1B):c.347C>T (p.Ala116Val) rs1041108422 0.00002
NM_004064.5(CDKN1B):c.349C>T (p.Pro117Ser) rs754936421 0.00002
NM_004064.5(CDKN1B):c.443G>T (p.Cys148Phe) rs200476090 0.00002
NM_004064.5(CDKN1B):c.*92A>G rs1428339523 0.00001
NM_004064.5(CDKN1B):c.10G>T (p.Val4Leu) rs780124638 0.00001
NM_004064.5(CDKN1B):c.118G>A (p.Glu40Lys) rs765527234 0.00001
NM_004064.5(CDKN1B):c.142C>T (p.His48Tyr) rs375515128 0.00001
NM_004064.5(CDKN1B):c.143A>G (p.His48Arg) rs1555085517 0.00001
NM_004064.5(CDKN1B):c.149G>A (p.Arg50Lys) rs771913043 0.00001
NM_004064.5(CDKN1B):c.14G>A (p.Arg5Gln) rs1408164050 0.00001
NM_004064.5(CDKN1B):c.151G>T (p.Asp51Tyr) rs369554045 0.00001
NM_004064.5(CDKN1B):c.160G>C (p.Glu54Gln) rs1275755910 0.00001
NM_004064.5(CDKN1B):c.164C>T (p.Ala55Val) rs765171184 0.00001
NM_004064.5(CDKN1B):c.167G>C (p.Ser56Thr) rs758686055 0.00001
NM_004064.5(CDKN1B):c.181A>C (p.Asn61His) rs754531356 0.00001
NM_004064.5(CDKN1B):c.195G>T (p.Gln65His) rs747864095 0.00001
NM_004064.5(CDKN1B):c.1_15del (p.Met1_Arg5del) rs758613901 0.00001
NM_004064.5(CDKN1B):c.203A>G (p.Lys68Arg) rs971444878 0.00001
NM_004064.5(CDKN1B):c.211G>C (p.Glu71Gln) rs1337857330 0.00001
NM_004064.5(CDKN1B):c.214G>A (p.Gly72Ser) rs1231596455 0.00001
NM_004064.5(CDKN1B):c.230A>G (p.Gln77Arg) rs764436301 0.00001
NM_004064.5(CDKN1B):c.238G>A (p.Glu80Lys) rs1765908267 0.00001
NM_004064.5(CDKN1B):c.243G>C (p.Lys81Asn) rs1158716077 0.00001
NM_004064.5(CDKN1B):c.245G>T (p.Gly82Val) rs767720666 0.00001
NM_004064.5(CDKN1B):c.248G>A (p.Ser83Asn) rs756574571 0.00001
NM_004064.5(CDKN1B):c.252G>C (p.Leu84Phe) rs778436220 0.00001
NM_004064.5(CDKN1B):c.253C>T (p.Pro85Ser) rs752181999 0.00001
NM_004064.5(CDKN1B):c.271C>A (p.Pro91Thr) rs769828807 0.00001
NM_004064.5(CDKN1B):c.272C>T (p.Pro91Leu) rs768793049 0.00001
NM_004064.5(CDKN1B):c.274C>T (p.Pro92Ser) rs868695692 0.00001
NM_004064.5(CDKN1B):c.278G>A (p.Arg93Gln) rs769996423 0.00001
NM_004064.5(CDKN1B):c.279G>A (p.Arg93=) rs766901538 0.00001
NM_004064.5(CDKN1B):c.304C>G (p.Pro102Ala) rs1249627522 0.00001
NM_004064.5(CDKN1B):c.308C>T (p.Ala103Val) rs773436050 0.00001
NM_004064.5(CDKN1B):c.332G>A (p.Gly111Glu) rs751007940 0.00001
NM_004064.5(CDKN1B):c.341C>G (p.Pro114Arg) rs755989911 0.00001
NM_004064.5(CDKN1B):c.352T>G (p.Leu118Val) rs1472386495 0.00001
NM_004064.5(CDKN1B):c.359G>A (p.Gly120Glu) rs1555085598 0.00001
NM_004064.5(CDKN1B):c.364C>T (p.Pro122Ser) rs747217677 0.00001
NM_004064.5(CDKN1B):c.365C>T (p.Pro122Leu) rs146973564 0.00001
NM_004064.5(CDKN1B):c.386A>G (p.His129Arg) rs766996989 0.00001
NM_004064.5(CDKN1B):c.3G>A (p.Met1Ile) rs756190836 0.00001
NM_004064.5(CDKN1B):c.410C>T (p.Pro137Leu) rs369871673 0.00001
NM_004064.5(CDKN1B):c.43C>T (p.Arg15Trp) rs2066828 0.00001
NM_004064.5(CDKN1B):c.445G>A (p.Ala149Thr) rs771553626 0.00001
NM_004064.5(CDKN1B):c.455G>A (p.Arg152Lys) rs878854623 0.00001
NM_004064.5(CDKN1B):c.463C>T (p.Pro155Ser) rs753502498 0.00001
NM_004064.5(CDKN1B):c.467C>T (p.Ala156Val) rs752642842 0.00001
NM_004064.5(CDKN1B):c.475G>A (p.Asp159Asn) rs751657844 0.00001
NM_004064.5(CDKN1B):c.479C>T (p.Ser160Phe) rs770629019 0.00001
NM_004064.5(CDKN1B):c.481T>C (p.Ser161Pro) rs1426083834 0.00001
NM_004064.5(CDKN1B):c.497G>A (p.Arg166Lys) rs1060500189 0.00001
NM_004064.5(CDKN1B):c.514G>A (p.Glu172Lys) rs1260635377 0.00001
NM_004064.5(CDKN1B):c.51C>A (p.Asp17Glu) rs552533838 0.00001
NM_004064.5(CDKN1B):c.586C>T (p.Arg196Cys) rs766315004 0.00001
NM_004064.5(CDKN1B):c.589C>A (p.Gln197Lys) rs375717769 0.00001
NM_004064.5(CDKN1B):c.93C>A (p.Asn31Lys) rs577554685 0.00001
NC_000012.11:g.(?_12870764)_(12871890_?)dup
NC_000012.11:g.(?_12870767)_(12871880_?)dup
NM_004064.5(CDKN1B):c.*1024G>C rs1050457365
NM_004064.5(CDKN1B):c.*1073C>T rs751656637
NM_004064.5(CDKN1B):c.*1186T>C rs886049087
NM_004064.5(CDKN1B):c.*1223A>C rs1349777082
NM_004064.5(CDKN1B):c.*163T>G rs1592282711
NM_004064.5(CDKN1B):c.*1dup (p.Ter199=) rs2136357503
NM_004064.5(CDKN1B):c.*204T>C rs886049083
NM_004064.5(CDKN1B):c.*437A>G rs1946539633
NM_004064.5(CDKN1B):c.*554_*558del rs886049084
NM_004064.5(CDKN1B):c.*746G>T rs886049085
NM_004064.5(CDKN1B):c.*973G>T rs1946544347
NM_004064.5(CDKN1B):c.-226C>T rs1653136057
NM_004064.5(CDKN1B):c.-2_2del (p.Met1fs)
NM_004064.5(CDKN1B):c.-371C>T rs11550615
NM_004064.5(CDKN1B):c.-386C>G rs886049078
NM_004064.5(CDKN1B):c.-73G>A rs1592280605
NM_004064.5(CDKN1B):c.-7G>C rs751341214
NM_004064.5(CDKN1B):c.-7G>T
NM_004064.5(CDKN1B):c.100G>A (p.Gly34Ser) rs1946488422
NM_004064.5(CDKN1B):c.103C>G (p.Pro35Ala) rs1946488503
NM_004064.5(CDKN1B):c.103C>T (p.Pro35Ser)
NM_004064.5(CDKN1B):c.107T>G (p.Val36Gly)
NM_004064.5(CDKN1B):c.109G>A (p.Asp37Asn) rs1946488666
NM_004064.5(CDKN1B):c.10G>A (p.Val4Met)
NM_004064.5(CDKN1B):c.110A>G (p.Asp37Gly)
NM_004064.5(CDKN1B):c.111C>G (p.Asp37Glu) rs1565419320
NM_004064.5(CDKN1B):c.112C>T (p.His38Tyr) rs1592280791
NM_004064.5(CDKN1B):c.115G>A (p.Glu39Lys) rs1592280796
NM_004064.5(CDKN1B):c.115G>C (p.Glu39Gln) rs1592280796
NM_004064.5(CDKN1B):c.11T>C (p.Val4Ala) rs1946485501
NM_004064.5(CDKN1B):c.124A>G (p.Thr42Ala) rs1592280811
NM_004064.5(CDKN1B):c.125C>G (p.Thr42Ser) rs200422211
NM_004064.5(CDKN1B):c.127C>T (p.Arg43Trp)
NM_004064.5(CDKN1B):c.130G>A (p.Asp44Asn) rs2136355606
NM_004064.5(CDKN1B):c.130G>C (p.Asp44His) rs2136355606
NM_004064.5(CDKN1B):c.130G>T (p.Asp44Tyr) rs2136355606
NM_004064.5(CDKN1B):c.131A>G (p.Asp44Gly) rs748854742
NM_004064.5(CDKN1B):c.134T>G (p.Leu45Trp) rs2136355613
NM_004064.5(CDKN1B):c.135G>C (p.Leu45Phe)
NM_004064.5(CDKN1B):c.136G>C (p.Glu46Gln)
NM_004064.5(CDKN1B):c.139A>C (p.Lys47Gln)
NM_004064.5(CDKN1B):c.13C>G (p.Arg5Gly) rs1349668409
NM_004064.5(CDKN1B):c.141G>C (p.Lys47Asn)
NM_004064.5(CDKN1B):c.143A>C (p.His48Pro) rs1555085517
NM_004064.5(CDKN1B):c.145T>G (p.Cys49Gly) rs2136355643
NM_004064.5(CDKN1B):c.147C>G (p.Cys49Trp) rs747742623
NM_004064.5(CDKN1B):c.148A>G (p.Arg50Gly)
NM_004064.5(CDKN1B):c.149G>C (p.Arg50Thr)
NM_004064.5(CDKN1B):c.151G>C (p.Asp51His)
NM_004064.5(CDKN1B):c.152A>G (p.Asp51Gly)
NM_004064.5(CDKN1B):c.154A>G (p.Met52Val) rs760647541
NM_004064.5(CDKN1B):c.154A>T (p.Met52Leu) rs760647541
NM_004064.5(CDKN1B):c.156G>T (p.Met52Ile)
NM_004064.5(CDKN1B):c.158A>G (p.Glu53Gly) rs1946489999
NM_004064.5(CDKN1B):c.160G>A (p.Glu54Lys) rs1275755910
NM_004064.5(CDKN1B):c.161A>G (p.Glu54Gly) rs2136355680
NM_004064.5(CDKN1B):c.164C>A (p.Ala55Glu) rs765171184
NM_004064.5(CDKN1B):c.164_165delinsTA (p.Ala55Val)
NM_004064.5(CDKN1B):c.168C>A (p.Ser56Arg) rs35456792
NM_004064.5(CDKN1B):c.168C>G (p.Ser56Arg)
NM_004064.5(CDKN1B):c.16G>A (p.Val6Met) rs2136355356
NM_004064.5(CDKN1B):c.16G>C (p.Val6Leu) rs2136355356
NM_004064.5(CDKN1B):c.170A>C (p.Gln57Pro) rs1946490426
NM_004064.5(CDKN1B):c.172C>T (p.Arg58Cys) rs1349254230
NM_004064.5(CDKN1B):c.173G>A (p.Arg58His)
NM_004064.5(CDKN1B):c.173G>C (p.Arg58Pro) rs1187039160
NM_004064.5(CDKN1B):c.173G>T (p.Arg58Leu)
NM_004064.5(CDKN1B):c.174C>T (p.Arg58=)
NM_004064.5(CDKN1B):c.175A>C (p.Lys59Gln)
NM_004064.5(CDKN1B):c.177G>T (p.Lys59Asn)
NM_004064.5(CDKN1B):c.17T>C (p.Val6Ala) rs1946485641
NM_004064.5(CDKN1B):c.181_318del (p.Asn61_Ser106del) rs2136355726
NM_004064.5(CDKN1B):c.183T>G (p.Asn61Lys) rs2136355731
NM_004064.5(CDKN1B):c.186C>G (p.Phe62Leu) rs2136355737
NM_004064.5(CDKN1B):c.192T>A (p.Phe64Leu)
NM_004064.5(CDKN1B):c.192T>G (p.Phe64Leu) rs2136355753
NM_004064.5(CDKN1B):c.193C>G (p.Gln65Glu) rs1565419383
NM_004064.5(CDKN1B):c.194A>G (p.Gln65Arg) rs1592280892
NM_004064.5(CDKN1B):c.194A>T (p.Gln65Leu) rs1592280892
NM_004064.5(CDKN1B):c.197A>G (p.Asn66Ser)
NM_004064.5(CDKN1B):c.199C>G (p.His67Asp) rs867208075
NM_004064.5(CDKN1B):c.199C>T (p.His67Tyr) rs867208075
NM_004064.5(CDKN1B):c.1A>G (p.Met1Val) rs1946485126
NM_004064.5(CDKN1B):c.200A>C (p.His67Pro)
NM_004064.5(CDKN1B):c.200A>T (p.His67Leu) rs1946490856
NM_004064.5(CDKN1B):c.201C>G (p.His67Gln)
NM_004064.5(CDKN1B):c.202A>C (p.Lys68Gln)
NM_004064.5(CDKN1B):c.205C>G (p.Pro69Ala) rs1388968180
NM_004064.5(CDKN1B):c.205C>T (p.Pro69Ser) rs1388968180
NM_004064.5(CDKN1B):c.206C>A (p.Pro69His) rs777354267
NM_004064.5(CDKN1B):c.208C>G (p.Leu70Val)
NM_004064.5(CDKN1B):c.211G>A (p.Glu71Lys) rs1337857330
NM_004064.5(CDKN1B):c.212A>G (p.Glu71Gly) rs770564585
NM_004064.5(CDKN1B):c.213G>C (p.Glu71Asp) rs1592280924
NM_004064.5(CDKN1B):c.215G>A (p.Gly72Asp) rs1280938448
NM_004064.5(CDKN1B):c.216dup (p.Lys73fs)
NM_004064.5(CDKN1B):c.219G>T (p.Lys73Asn) rs573353679
NM_004064.5(CDKN1B):c.221A>G (p.Tyr74Cys)
NM_004064.5(CDKN1B):c.223G>A (p.Glu75Lys) rs2136355827
NM_004064.5(CDKN1B):c.224A>G (p.Glu75Gly)
NM_004064.5(CDKN1B):c.224A>T (p.Glu75Val) rs1565419420
NM_004064.5(CDKN1B):c.226T>C (p.Trp76Arg) rs2136355838
NM_004064.5(CDKN1B):c.229C>G (p.Gln77Glu) rs1946491661
NM_004064.5(CDKN1B):c.22A>T (p.Asn8Tyr)
NM_004064.5(CDKN1B):c.231A>T (p.Gln77His)
NM_004064.5(CDKN1B):c.232G>A (p.Glu78Lys) rs1946491741
NM_004064.5(CDKN1B):c.234G>C (p.Glu78Asp) rs751794433
NM_004064.5(CDKN1B):c.236T>G (p.Val79Gly) rs1196963330
NM_004064.5(CDKN1B):c.238_240del (p.Glu80del) rs1946491901
NM_004064.5(CDKN1B):c.239A>G (p.Glu80Gly) rs1253732337
NM_004064.5(CDKN1B):c.245G>A (p.Gly82Asp)
NM_004064.5(CDKN1B):c.247A>G (p.Ser83Gly)
NM_004064.5(CDKN1B):c.248G>C (p.Ser83Thr)
NM_004064.5(CDKN1B):c.249C>G (p.Ser83Arg)
NM_004064.5(CDKN1B):c.252_253delinsCT (p.Leu84_Pro85delinsPheSer) rs1555085568
NM_004064.5(CDKN1B):c.254C>T (p.Pro85Leu) rs2136355888
NM_004064.5(CDKN1B):c.257A>C (p.Glu86Ala)
NM_004064.5(CDKN1B):c.258G>C (p.Glu86Asp) rs142940486
NM_004064.5(CDKN1B):c.258G>T (p.Glu86Asp) rs142940486
NM_004064.5(CDKN1B):c.25G>C (p.Gly9Arg) rs755225286
NM_004064.5(CDKN1B):c.25G>T (p.Gly9Trp) rs755225286
NM_004064.5(CDKN1B):c.261C>A (p.Phe87Leu)
NM_004064.5(CDKN1B):c.262TAC[1] (p.Tyr89del)
NM_004064.5(CDKN1B):c.263A>G (p.Tyr88Cys)
NM_004064.5(CDKN1B):c.265T>C (p.Tyr89His)
NM_004064.5(CDKN1B):c.265T>G (p.Tyr89Asp)
NM_004064.5(CDKN1B):c.266A>G (p.Tyr89Cys) rs780841720
NM_004064.5(CDKN1B):c.26G>A (p.Gly9Glu) rs1946485926
NM_004064.5(CDKN1B):c.271C>G (p.Pro91Ala) rs769828807
NM_004064.5(CDKN1B):c.271C>T (p.Pro91Ser) rs769828807
NM_004064.5(CDKN1B):c.272C>A (p.Pro91His)
NM_004064.5(CDKN1B):c.272C>G (p.Pro91Arg) rs768793049
NM_004064.5(CDKN1B):c.274C>A (p.Pro92Thr)
NM_004064.5(CDKN1B):c.275C>T (p.Pro92Leu) rs1253618733
NM_004064.5(CDKN1B):c.27_29del (p.Ser10del)
NM_004064.5(CDKN1B):c.281C>A (p.Pro94His) rs757917082
NM_004064.5(CDKN1B):c.282_283delinsTT (p.Pro95Ser) rs1946493816
NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser) rs188579132
NM_004064.5(CDKN1B):c.284C>A (p.Pro95His) rs200141048
NM_004064.5(CDKN1B):c.286A>G (p.Lys96Glu) rs2136356023
NM_004064.5(CDKN1B):c.287A>G (p.Lys96Arg) rs1297219334
NM_004064.5(CDKN1B):c.292G>A (p.Ala98Thr) rs749183658
NM_004064.5(CDKN1B):c.292G>T (p.Ala98Ser) rs749183658
NM_004064.5(CDKN1B):c.293C>A (p.Ala98Asp)
NM_004064.5(CDKN1B):c.293C>T (p.Ala98Val)
NM_004064.5(CDKN1B):c.295T>C (p.Cys99Arg)
NM_004064.5(CDKN1B):c.296G>A (p.Cys99Tyr) rs1946494360
NM_004064.5(CDKN1B):c.298A>G (p.Lys100Glu) rs1946494434
NM_004064.5(CDKN1B):c.299A>G (p.Lys100Arg) rs774291520
NM_004064.5(CDKN1B):c.29G>A (p.Ser10Asn) rs1555085482
NM_004064.5(CDKN1B):c.29G>C (p.Ser10Thr) rs1555085482
NM_004064.5(CDKN1B):c.300G>C (p.Lys100Asn)
NM_004064.5(CDKN1B):c.305C>A (p.Pro102Gln)
NM_004064.5(CDKN1B):c.305C>G (p.Pro102Arg)
NM_004064.5(CDKN1B):c.305C>T (p.Pro102Leu)
NM_004064.5(CDKN1B):c.307G>A (p.Ala103Thr)
NM_004064.5(CDKN1B):c.30C>G (p.Ser10Arg) rs990433180
NM_004064.5(CDKN1B):c.311A>G (p.Gln104Arg) rs1204233029
NM_004064.5(CDKN1B):c.313G>A (p.Glu105Lys)
NM_004064.5(CDKN1B):c.317G>C (p.Ser106Thr)
NM_004064.5(CDKN1B):c.31C>G (p.Pro11Ala) rs779193240
NM_004064.5(CDKN1B):c.321G>T (p.Gln107His) rs370811357
NM_004064.5(CDKN1B):c.322G>A (p.Asp108Asn)
NM_004064.5(CDKN1B):c.322G>T (p.Asp108Tyr)
NM_004064.5(CDKN1B):c.325G>A (p.Val109Ile)
NM_004064.5(CDKN1B):c.325_326delinsAG (p.Val109Ser) rs2136356150
NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp) rs2066827
NM_004064.5(CDKN1B):c.326T>C (p.Val109Ala) rs2066827
NM_004064.5(CDKN1B):c.328_339del (p.Ser110_Arg113del)
NM_004064.5(CDKN1B):c.329G>C (p.Ser110Thr) rs2136356167
NM_004064.5(CDKN1B):c.32C>G (p.Pro11Arg)
NM_004064.5(CDKN1B):c.32C>T (p.Pro11Leu) rs748543504
NM_004064.5(CDKN1B):c.330C>G (p.Ser110Arg) rs1946495382
NM_004064.5(CDKN1B):c.331G>A (p.Gly111Arg) rs2136356180
NM_004064.5(CDKN1B):c.331G>C (p.Gly111Arg)
NM_004064.5(CDKN1B):c.335G>A (p.Ser112Asn) rs1391369844
NM_004064.5(CDKN1B):c.335G>C (p.Ser112Thr)
NM_004064.5(CDKN1B):c.336C>A (p.Ser112Arg)
NM_004064.5(CDKN1B):c.337C>A (p.Arg113Ser) rs1946495615
NM_004064.5(CDKN1B):c.337C>T (p.Arg113Cys) rs1946495615
NM_004064.5(CDKN1B):c.338G>A (p.Arg113His) rs767109665
NM_004064.5(CDKN1B):c.338G>T (p.Arg113Leu) rs767109665
NM_004064.5(CDKN1B):c.340C>G (p.Pro114Ala)
NM_004064.5(CDKN1B):c.341C>T (p.Pro114Leu)
NM_004064.5(CDKN1B):c.344C>T (p.Ala115Val)
NM_004064.5(CDKN1B):c.346G>A (p.Ala116Thr) rs2136356224
NM_004064.5(CDKN1B):c.34A>G (p.Ser12Gly) rs1592280717
NM_004064.5(CDKN1B):c.353T>C (p.Leu118Ser)
NM_004064.5(CDKN1B):c.354A>T (p.Leu118Phe)
NM_004064.5(CDKN1B):c.355A>G (p.Ile119Val) rs2136356252
NM_004064.5(CDKN1B):c.356T>G (p.Ile119Ser) rs142833529
NM_004064.5(CDKN1B):c.359G>C (p.Gly120Ala) rs1555085598
NM_004064.5(CDKN1B):c.35G>A (p.Ser12Asn) rs775772074
NM_004064.5(CDKN1B):c.35G>C (p.Ser12Thr) rs775772074
NM_004064.5(CDKN1B):c.361G>A (p.Ala121Thr) rs1060500192
NM_004064.5(CDKN1B):c.361G>C (p.Ala121Pro)
NM_004064.5(CDKN1B):c.364_365delinsTT (p.Pro122Leu)
NM_004064.5(CDKN1B):c.367G>A (p.Ala123Thr) rs1946496773
NM_004064.5(CDKN1B):c.368C>G (p.Ala123Gly)
NM_004064.5(CDKN1B):c.368C>T (p.Ala123Val) rs1427690050
NM_004064.5(CDKN1B):c.370A>C (p.Asn124His) rs1946496907
NM_004064.5(CDKN1B):c.370A>G (p.Asn124Asp) rs1946496907
NM_004064.5(CDKN1B):c.371A>C (p.Asn124Thr) rs2136356311
NM_004064.5(CDKN1B):c.372C>A (p.Asn124Lys) rs760081465
NM_004064.5(CDKN1B):c.373T>C (p.Ser125Pro) rs765681672
NM_004064.5(CDKN1B):c.377A>G (p.Glu126Gly)
NM_004064.5(CDKN1B):c.379G>T (p.Asp127Tyr)
NM_004064.5(CDKN1B):c.382A>G (p.Thr128Ala)
NM_004064.5(CDKN1B):c.383C>G (p.Thr128Arg) rs761235464
NM_004064.5(CDKN1B):c.385C>T (p.His129Tyr) rs1946497392
NM_004064.5(CDKN1B):c.388T>A (p.Leu130Met) rs2136356381
NM_004064.5(CDKN1B):c.389_409dup (p.Leu130_Asp136dup) rs1946497601
NM_004064.5(CDKN1B):c.38T>G (p.Leu13Arg) rs1946486449
NM_004064.5(CDKN1B):c.391G>A (p.Val131Met) rs1565419631
NM_004064.5(CDKN1B):c.391G>T (p.Val131Leu) rs1565419631
NM_004064.5(CDKN1B):c.392T>C (p.Val131Ala)
NM_004064.5(CDKN1B):c.392T>G (p.Val131Gly)
NM_004064.5(CDKN1B):c.394G>A (p.Asp132Asn) rs760403492
NM_004064.5(CDKN1B):c.394G>C (p.Asp132His) rs760403492
NM_004064.5(CDKN1B):c.394G>T (p.Asp132Tyr) rs760403492
NM_004064.5(CDKN1B):c.395A>G (p.Asp132Gly) rs1592281202
NM_004064.5(CDKN1B):c.397C>G (p.Pro133Ala) rs137985549
NM_004064.5(CDKN1B):c.397C>T (p.Pro133Ser) rs137985549
NM_004064.5(CDKN1B):c.398C>T (p.Pro133Leu)
NM_004064.5(CDKN1B):c.399_409del (p.Lys134fs)
NM_004064.5(CDKN1B):c.401A>T (p.Lys134Met)
NM_004064.5(CDKN1B):c.402G>C (p.Lys134Asn)
NM_004064.5(CDKN1B):c.403A>C (p.Thr135Pro)
NM_004064.5(CDKN1B):c.404C>G (p.Thr135Ser) rs1565419638
NM_004064.5(CDKN1B):c.404C>T (p.Thr135Ile)
NM_004064.5(CDKN1B):c.406G>A (p.Asp136Asn)
NM_004064.5(CDKN1B):c.406G>C (p.Asp136His) rs1946498276
NM_004064.5(CDKN1B):c.406G>T (p.Asp136Tyr) rs1946498276
NM_004064.5(CDKN1B):c.406_407insGTGG (p.Asp136fs)
NM_004064.5(CDKN1B):c.408T>G (p.Asp136Glu) rs1361482047
NM_004064.5(CDKN1B):c.409C>G (p.Pro137Ala)
NM_004064.5(CDKN1B):c.409C>T (p.Pro137Ser) rs752620765
NM_004064.5(CDKN1B):c.40G>A (p.Glu14Lys)
NM_004064.5(CDKN1B):c.410C>G (p.Pro137Arg)
NM_004064.5(CDKN1B):c.413C>G (p.Ser138Trp)
NM_004064.5(CDKN1B):c.413C>T (p.Ser138Leu)
NM_004064.5(CDKN1B):c.416A>T (p.Asp139Val)
NM_004064.5(CDKN1B):c.41A>G (p.Glu14Gly) rs1467549866
NM_004064.5(CDKN1B):c.421C>A (p.Gln141Lys) rs1946498768
NM_004064.5(CDKN1B):c.424A>C (p.Thr142Pro) rs1946498850
NM_004064.5(CDKN1B):c.425C>A (p.Thr142Lys) rs771115907
NM_004064.5(CDKN1B):c.426_427delinsAA (p.Gly143Arg)
NM_004064.5(CDKN1B):c.427G>A (p.Gly143Arg) rs1946499047
NM_004064.5(CDKN1B):c.427G>T (p.Gly143Trp) rs1946499047
NM_004064.5(CDKN1B):c.428G>A (p.Gly143Glu)
NM_004064.5(CDKN1B):c.428G>C (p.Gly143Ala) rs1413091136
NM_004064.5(CDKN1B):c.430T>A (p.Leu144Ile) rs1946499193
NM_004064.5(CDKN1B):c.432dup (p.Ala145fs) rs2136356527
NM_004064.5(CDKN1B):c.433G>A (p.Ala145Thr) rs1946499246
NM_004064.5(CDKN1B):c.434C>T (p.Ala145Val) rs1946499288
NM_004064.5(CDKN1B):c.436G>A (p.Glu146Lys) rs2136356536
NM_004064.5(CDKN1B):c.437A>G (p.Glu146Gly) rs1946499383
NM_004064.5(CDKN1B):c.440A>C (p.Gln147Pro)
NM_004064.5(CDKN1B):c.440A>G (p.Gln147Arg)
NM_004064.5(CDKN1B):c.442T>C (p.Cys148Arg) rs775877516
NM_004064.5(CDKN1B):c.444C>G (p.Cys148Trp)
NM_004064.5(CDKN1B):c.445G>T (p.Ala149Ser) rs771553626
NM_004064.5(CDKN1B):c.445_446del (p.Ala149fs) rs1565419676
NM_004064.5(CDKN1B):c.445_446delinsTT (p.Ala149Leu) rs1060500188
NM_004064.5(CDKN1B):c.449G>A (p.Gly150Glu) rs772818396
NM_004064.5(CDKN1B):c.452T>A (p.Ile151Lys) rs760454287
NM_004064.5(CDKN1B):c.456_466del (p.Arg152fs)
NM_004064.5(CDKN1B):c.461_462insTT (p.Pro155fs) rs1946500153
NM_004064.5(CDKN1B):c.464C>A (p.Pro155His) rs143879243
NM_004064.5(CDKN1B):c.464C>T (p.Pro155Leu) rs143879243
NM_004064.5(CDKN1B):c.466G>A (p.Ala156Thr) rs1946500374
NM_004064.5(CDKN1B):c.467C>G (p.Ala156Gly)
NM_004064.5(CDKN1B):c.468_471dup (p.Asp158fs)
NM_004064.5(CDKN1B):c.469A>G (p.Thr157Ala) rs758325398
NM_004064.5(CDKN1B):c.46A>G (p.Met16Val) rs1162081170
NM_004064.5(CDKN1B):c.470C>T (p.Thr157Ile) rs1217425525
NM_004064.5(CDKN1B):c.472G>A (p.Asp158Asn) rs1592281294
NM_004064.5(CDKN1B):c.472G>C (p.Asp158His) rs1592281294
NM_004064.5(CDKN1B):c.473A>G (p.Asp158Gly)
NM_004064.5(CDKN1B):c.474C>A (p.Asp158Glu)
NM_004064.5(CDKN1B):c.474C>T (p.Asp158=)
NM_004064.5(CDKN1B):c.474del (p.Asp158fs)
NM_004064.5(CDKN1B):c.475+1G>A rs1174921391
NM_004064.5(CDKN1B):c.475+2T>A
NM_004064.5(CDKN1B):c.475+2T>C
NM_004064.5(CDKN1B):c.475+3A>T rs575418074
NM_004064.5(CDKN1B):c.475+4A>G
NM_004064.5(CDKN1B):c.476-17A>G
NM_004064.5(CDKN1B):c.476-20A>G
NM_004064.5(CDKN1B):c.476-2_491del
NM_004064.5(CDKN1B):c.476-6_476-5delinsAG rs1555085703
NM_004064.5(CDKN1B):c.476-6_482del rs2136357216
NM_004064.5(CDKN1B):c.476-7C>A rs1240754760
NM_004064.5(CDKN1B):c.476-9T>A
NM_004064.5(CDKN1B):c.477T>G (p.Asp159Glu) rs2136357235
NM_004064.5(CDKN1B):c.478T>A (p.Ser160Thr)
NM_004064.5(CDKN1B):c.478T>C (p.Ser160Pro)
NM_004064.5(CDKN1B):c.479C>A (p.Ser160Tyr) rs770629019
NM_004064.5(CDKN1B):c.482C>T (p.Ser161Phe) rs373917399
NM_004064.5(CDKN1B):c.485C>T (p.Thr162Ile) rs774965131
NM_004064.5(CDKN1B):c.487C>A (p.Gln163Lys)
NM_004064.5(CDKN1B):c.48G>A (p.Met16Ile)
NM_004064.5(CDKN1B):c.491A>G (p.Asn164Ser) rs1592281716
NM_004064.5(CDKN1B):c.491del (p.Asn164fs) rs1946511422
NM_004064.5(CDKN1B):c.492C>A (p.Asn164Lys) rs762810555
NM_004064.5(CDKN1B):c.492_496del (p.Asn164fs) rs1210577994
NM_004064.5(CDKN1B):c.493A>G (p.Lys165Glu)
NM_004064.5(CDKN1B):c.499G>C (p.Ala167Pro)
NM_004064.5(CDKN1B):c.499G>T (p.Ala167Ser)
NM_004064.5(CDKN1B):c.503A>C (p.Asn168Thr) rs761736796
NM_004064.5(CDKN1B):c.503A>G (p.Asn168Ser) rs761736796
NM_004064.5(CDKN1B):c.503A>T (p.Asn168Ile)
NM_004064.5(CDKN1B):c.504C>G (p.Asn168Lys)
NM_004064.5(CDKN1B):c.506G>A (p.Arg169Lys) rs1946511810
NM_004064.5(CDKN1B):c.509del (p.Thr170fs)
NM_004064.5(CDKN1B):c.511GAA[1] (p.Glu172del) rs1592281730
NM_004064.5(CDKN1B):c.512A>G (p.Glu171Gly)
NM_004064.5(CDKN1B):c.513A>T (p.Glu171Asp)
NM_004064.5(CDKN1B):c.514G>C (p.Glu172Gln) rs1260635377
NM_004064.5(CDKN1B):c.515A>G (p.Glu172Gly)
NM_004064.5(CDKN1B):c.517A>T (p.Asn173Tyr)
NM_004064.5(CDKN1B):c.520G>A (p.Val174Ile) rs766659283
NM_004064.5(CDKN1B):c.523T>C (p.Ser175Pro) rs753943702
NM_004064.5(CDKN1B):c.523T>G (p.Ser175Ala)
NM_004064.5(CDKN1B):c.526G>A (p.Asp176Asn)
NM_004064.5(CDKN1B):c.528C>G (p.Asp176Glu) rs779413893
NM_004064.5(CDKN1B):c.529G>A (p.Gly177Ser) rs529949605
NM_004064.5(CDKN1B):c.532del (p.Ser178fs)
NM_004064.5(CDKN1B):c.533C>A (p.Ser178Tyr)
NM_004064.5(CDKN1B):c.533C>T (p.Ser178Phe) rs2136357372
NM_004064.5(CDKN1B):c.535C>A (p.Pro179Thr)
NM_004064.5(CDKN1B):c.536C>T (p.Pro179Leu) rs745415005
NM_004064.5(CDKN1B):c.536del (p.Pro179fs)
NM_004064.5(CDKN1B):c.539A>G (p.Asn180Ser)
NM_004064.5(CDKN1B):c.539A>T (p.Asn180Ile) rs2136357386
NM_004064.5(CDKN1B):c.53C>G (p.Ala18Gly)
NM_004064.5(CDKN1B):c.53C>T (p.Ala18Val)
NM_004064.5(CDKN1B):c.541G>A (p.Ala181Thr) rs1592281759
NM_004064.5(CDKN1B):c.542C>T (p.Ala181Val)
NM_004064.5(CDKN1B):c.545G>T (p.Gly182Val) rs1946512774
NM_004064.5(CDKN1B):c.548C>A (p.Ser183Tyr)
NM_004064.5(CDKN1B):c.548C>T (p.Ser183Phe) rs748924503
NM_004064.5(CDKN1B):c.550G>A (p.Val184Met)
NM_004064.5(CDKN1B):c.551T>C (p.Val184Ala) rs768507663
NM_004064.5(CDKN1B):c.553G>C (p.Glu185Gln) rs2136357420
NM_004064.5(CDKN1B):c.558G>C (p.Gln186His)
NM_004064.5(CDKN1B):c.55A>G (p.Arg19Gly) rs1555085496
NM_004064.5(CDKN1B):c.560C>G (p.Thr187Arg)
NM_004064.5(CDKN1B):c.563C>T (p.Pro188Leu)
NM_004064.5(CDKN1B):c.569A>G (p.Lys190Arg) rs774102258
NM_004064.5(CDKN1B):c.570_592dup (p.Thr198fs) rs1946513130
NM_004064.5(CDKN1B):c.571C>A (p.Pro191Thr) rs1946513256
NM_004064.5(CDKN1B):c.571C>T (p.Pro191Ser)
NM_004064.5(CDKN1B):c.572C>G (p.Pro191Arg) rs1946513297
NM_004064.5(CDKN1B):c.573dup (p.Gly192fs) rs1946513323
NM_004064.5(CDKN1B):c.574G>A (p.Gly192Ser)
NM_004064.5(CDKN1B):c.577C>A (p.Leu193Ile) rs73281150
NM_004064.5(CDKN1B):c.577C>G (p.Leu193Val)
NM_004064.5(CDKN1B):c.580A>G (p.Arg194Gly)
NM_004064.5(CDKN1B):c.581G>C (p.Arg194Thr)
NM_004064.5(CDKN1B):c.582A>T (p.Arg194Ser)
NM_004064.5(CDKN1B):c.584G>C (p.Arg195Thr) rs1946513646
NM_004064.5(CDKN1B):c.586C>A (p.Arg196Ser)
NM_004064.5(CDKN1B):c.587G>A (p.Arg196His) rs112962540
NM_004064.5(CDKN1B):c.587G>C (p.Arg196Pro)
NM_004064.5(CDKN1B):c.590A>G (p.Gln197Arg) rs1946513852
NM_004064.5(CDKN1B):c.590A>T (p.Gln197Leu)
NM_004064.5(CDKN1B):c.591A>G (p.Gln197=)
NM_004064.5(CDKN1B):c.592A>C (p.Thr198Pro) rs1555085730
NM_004064.5(CDKN1B):c.592A>G (p.Thr198Ala)
NM_004064.5(CDKN1B):c.593C>A (p.Thr198Lys)
NM_004064.5(CDKN1B):c.593C>G (p.Thr198Arg)
NM_004064.5(CDKN1B):c.593C>T (p.Thr198Met) rs1197510010
NM_004064.5(CDKN1B):c.594_596delinsTGTTT (p.Ter199ValextTer?) rs1592281823
NM_004064.5(CDKN1B):c.595_*8del (p.Ter199AsnextTer?) rs1946514001
NM_004064.5(CDKN1B):c.597A>T (p.Ter199Tyr) rs1565420117
NM_004064.5(CDKN1B):c.5C>T (p.Ser2Leu) rs2136355327
NM_004064.5(CDKN1B):c.60G>C (p.Gln20His) rs1369715485
NM_004064.5(CDKN1B):c.61G>A (p.Ala21Thr)
NM_004064.5(CDKN1B):c.62C>T (p.Ala21Val)
NM_004064.5(CDKN1B):c.64G>A (p.Glu22Lys) rs2136355461
NM_004064.5(CDKN1B):c.64G>C (p.Glu22Gln) rs2136355461
NM_004064.5(CDKN1B):c.67C>T (p.His23Tyr) rs1946487548
NM_004064.5(CDKN1B):c.68A>G (p.His23Arg) rs1946487581
NM_004064.5(CDKN1B):c.69C>A (p.His23Gln) rs1946487615
NM_004064.5(CDKN1B):c.70C>A (p.Pro24Thr)
NM_004064.5(CDKN1B):c.70C>T (p.Pro24Ser) rs2136355480
NM_004064.5(CDKN1B):c.71C>G (p.Pro24Arg)
NM_004064.5(CDKN1B):c.76C>T (p.Pro26Ser)
NM_004064.5(CDKN1B):c.77C>T (p.Pro26Leu) rs2136355491
NM_004064.5(CDKN1B):c.7A>C (p.Asn3His)
NM_004064.5(CDKN1B):c.7A>G (p.Asn3Asp) rs1348090532
NM_004064.5(CDKN1B):c.80C>T (p.Ser27Leu) rs1060500190
NM_004064.5(CDKN1B):c.83C>A (p.Ala28Asp)
NM_004064.5(CDKN1B):c.83C>T (p.Ala28Val) rs1592280774
NM_004064.5(CDKN1B):c.86G>A (p.Cys29Tyr) rs1946487948
NM_004064.5(CDKN1B):c.91A>C (p.Asn31His)
NM_004064.5(CDKN1B):c.91A>T (p.Asn31Tyr)
NM_004064.5(CDKN1B):c.94C>T (p.Leu32Phe) rs2136355531
NM_004064.5(CDKN1B):c.99C>G (p.Phe33Leu) rs201349921
NM_004064.5(CDKN1B):c.9C>A (p.Asn3Lys) rs1411622351

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