ClinVar Miner

List of variants in gene CDK4 studied for familial melanoma

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 493
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_000075.4(CDK4):c.-60C>G rs541752163 0.00188
NM_000075.4(CDK4):c.-123T>G rs759319348 0.00095
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NC_000012.12:g.57752476A>G rs865902881 0.00017
NC_000012.12:g.57752350C>T rs1280668662 0.00005
NM_000075.4(CDK4):c.460G>C (p.Val154Leu) rs563692823 0.00004
NM_000075.4(CDK4):c.-54C>T rs886049716 0.00003
NM_000075.4(CDK4):c.-55A>T rs886049717 0.00003
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln) rs587778184 0.00003
NM_000075.4(CDK4):c.354+3G>C rs746395249 0.00003
NM_000075.4(CDK4):c.409G>A (p.Val137Ile) rs150281463 0.00003
NM_000075.4(CDK4):c.423G>C (p.Leu141=) rs760242081 0.00003
NM_000075.4(CDK4):c.522+8G>A rs758294834 0.00003
NM_000075.4(CDK4):c.542G>A (p.Arg181Gln) rs772079285 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000075.4(CDK4):c.84T>C (p.Ser28=) rs763203404 0.00003
NM_000075.4(CDK4):c.279T>C (p.Phe93=) rs1478574297 0.00002
NM_000075.4(CDK4):c.354+9G>T rs771456729 0.00002
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) rs587778185 0.00002
NM_000075.4(CDK4):c.451G>A (p.Gly151Ser) rs1280774592 0.00002
NM_000075.4(CDK4):c.576A>C (p.Ala192=) rs565563672 0.00002
NM_000075.4(CDK4):c.632+14A>G rs542680423 0.00002
NM_000075.4(CDK4):c.96G>C (p.Val32=) rs563392051 0.00002
NM_000075.4(CDK4):c.109G>A (p.Val37Met) rs1060501930 0.00001
NM_000075.4(CDK4):c.116T>C (p.Val39Ala) rs1955238404 0.00001
NM_000075.4(CDK4):c.14G>A (p.Arg5Gln) rs1031329993 0.00001
NM_000075.4(CDK4):c.219-10C>T rs759302811 0.00001
NM_000075.4(CDK4):c.219-5G>C rs1286893141 0.00001
NM_000075.4(CDK4):c.219-7T>C rs543798269 0.00001
NM_000075.4(CDK4):c.222G>A (p.Leu74=) rs565645344 0.00001
NM_000075.4(CDK4):c.228C>T (p.Asp76=) rs772531745 0.00001
NM_000075.4(CDK4):c.229G>A (p.Val77Ile) rs730881670 0.00001
NM_000075.4(CDK4):c.245G>A (p.Arg82Gln) rs3211612 0.00001
NM_000075.4(CDK4):c.24A>C (p.Pro8=) rs756789126 0.00001
NM_000075.4(CDK4):c.252C>T (p.Asp84=) rs780590939 0.00001
NM_000075.4(CDK4):c.263A>G (p.Lys88Arg) rs1463751654 0.00001
NM_000075.4(CDK4):c.288A>G (p.Val96=) rs754092304 0.00001
NM_000075.4(CDK4):c.309T>C (p.Tyr103=) rs554603181 0.00001
NM_000075.4(CDK4):c.343G>A (p.Glu115Lys) rs772938517 0.00001
NM_000075.4(CDK4):c.345A>C (p.Glu115Asp) rs769378936 0.00001
NM_000075.4(CDK4):c.346A>G (p.Thr116Ala) rs2063052002 0.00001
NM_000075.4(CDK4):c.347C>T (p.Thr116Met) rs1060501931 0.00001
NM_000075.4(CDK4):c.348G>A (p.Thr116=) rs761353033 0.00001
NM_000075.4(CDK4):c.349A>G (p.Ile117Val) rs776343973 0.00001
NM_000075.4(CDK4):c.352A>C (p.Lys118Gln) rs772689692 0.00001
NM_000075.4(CDK4):c.354+19C>T rs587780884 0.00001
NM_000075.4(CDK4):c.355-12C>T rs1004281478 0.00001
NM_000075.4(CDK4):c.355-3T>C rs771392563 0.00001
NM_000075.4(CDK4):c.355-4C>G rs1406247863 0.00001
NM_000075.4(CDK4):c.364C>G (p.Arg122Gly) rs587778185 0.00001
NM_000075.4(CDK4):c.365G>A (p.Arg122His) rs34386532 0.00001
NM_000075.4(CDK4):c.385G>A (p.Asp129Asn) rs876660606 0.00001
NM_000075.4(CDK4):c.402T>C (p.Asn134=) rs537039467 0.00001
NM_000075.4(CDK4):c.404G>A (p.Cys135Tyr) rs1340574386 0.00001
NM_000075.4(CDK4):c.415C>T (p.Arg139Ter) rs753579957 0.00001
NM_000075.4(CDK4):c.416G>A (p.Arg139Gln) rs763652580 0.00001
NM_000075.4(CDK4):c.421C>G (p.Leu141Val) rs1246306482 0.00001
NM_000075.4(CDK4):c.431A>G (p.Glu144Gly) rs863224603 0.00001
NM_000075.4(CDK4):c.458C>T (p.Thr153Ile) rs1443076952 0.00001
NM_000075.4(CDK4):c.461T>C (p.Val154Ala) rs1555201304 0.00001
NM_000075.4(CDK4):c.481C>T (p.Leu161=) rs796860515 0.00001
NM_000075.4(CDK4):c.486C>G (p.Ala162=) rs1595110441 0.00001
NM_000075.4(CDK4):c.491T>C (p.Ile164Thr) rs1222529576 0.00001
NM_000075.4(CDK4):c.501C>T (p.Tyr167=) rs1316207187 0.00001
NM_000075.4(CDK4):c.504G>A (p.Gln168=) rs770086242 0.00001
NM_000075.4(CDK4):c.519C>T (p.Pro173=) rs747084709 0.00001
NM_000075.4(CDK4):c.520G>A (p.Val174Met) rs780052789 0.00001
NM_000075.4(CDK4):c.522+19C>T rs1955228699 0.00001
NM_000075.4(CDK4):c.523-11A>G rs958372242 0.00001
NM_000075.4(CDK4):c.523-16T>C rs368524338 0.00001
NM_000075.4(CDK4):c.523-4T>A rs587780667 0.00001
NM_000075.4(CDK4):c.523G>A (p.Val175Ile) rs587778186 0.00001
NM_000075.4(CDK4):c.532C>T (p.Leu178Phe) rs1030964946 0.00001
NM_000075.4(CDK4):c.534C>T (p.Leu178=) rs11547327 0.00001
NM_000075.4(CDK4):c.543A>C (p.Arg181=) rs745772539 0.00001
NM_000075.4(CDK4):c.553G>A (p.Val185Ile) rs757302656 0.00001
NM_000075.4(CDK4):c.580C>T (p.Pro194Ser) rs1264069202 0.00001
NM_000075.4(CDK4):c.597T>C (p.Ser199=) rs1260582581 0.00001
NM_000075.4(CDK4):c.605G>C (p.Cys202Ser) rs1424791303 0.00001
NM_000075.4(CDK4):c.60G>A (p.Val20=) rs1595111186 0.00001
NM_000075.4(CDK4):c.620T>A (p.Met207Lys) rs1339920302 0.00001
NM_000075.4(CDK4):c.626G>A (p.Arg209His) rs754423955 0.00001
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln) rs373619077 0.00001
NM_000075.4(CDK4):c.632+16A>G rs1240250642 0.00001
NM_000075.4(CDK4):c.632+20T>C rs1027049979 0.00001
NM_000075.4(CDK4):c.632+6G>A rs762362960 0.00001
NM_000075.4(CDK4):c.632+8A>G rs1269709231 0.00001
NM_000075.4(CDK4):c.632+9C>T rs1192976748 0.00001
NM_000075.4(CDK4):c.87C>T (p.Gly29=) rs1555201376 0.00001
NC_000012.11:g.(?_58142308)_(58142410_?)del
NC_000012.11:g.(?_58142308)_(58145500_?)del
NC_000012.11:g.(?_58142945)_(58145500_?)dup
NC_000012.11:g.(?_58144696)_(58145500_?)dup
NC_000012.12:g.(?_57748525)_(57751717_?)dup
NC_000012.12:g.(?_57750646)_(57751717_?)dup
NM_000075.4(CDK4):c.-100G>T rs886049718
NM_000075.4(CDK4):c.-74C>T rs1955245553
NM_000075.4(CDK4):c.102C>A (p.Leu34=)
NM_000075.4(CDK4):c.102C>G (p.Leu34=) rs758515796
NM_000075.4(CDK4):c.104A>G (p.Lys35Arg)
NM_000075.4(CDK4):c.104del (p.Lys35fs) rs2140388479
NM_000075.4(CDK4):c.105G>A (p.Lys35=) rs2140388473
NM_000075.4(CDK4):c.107G>A (p.Ser36Asn)
NM_000075.4(CDK4):c.107G>C (p.Ser36Thr) rs1955238564
NM_000075.4(CDK4):c.108T>C (p.Ser36=)
NM_000075.4(CDK4):c.111G>A (p.Val37=) rs1456215691
NM_000075.4(CDK4):c.117C>A (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.117C>T (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.118C>T (p.Pro40Ser)
NM_000075.4(CDK4):c.11C>A (p.Ser4Tyr) rs1227101024
NM_000075.4(CDK4):c.11C>G (p.Ser4Cys)
NM_000075.4(CDK4):c.11C>T (p.Ser4Phe)
NM_000075.4(CDK4):c.12T>C (p.Ser4=) rs1595111261
NM_000075.4(CDK4):c.13C>A (p.Arg5=)
NM_000075.4(CDK4):c.13C>G (p.Arg5Gly) rs1595111256
NM_000075.4(CDK4):c.13C>T (p.Arg5Ter)
NM_000075.4(CDK4):c.15A>C (p.Arg5=)
NM_000075.4(CDK4):c.15A>G (p.Arg5=)
NM_000075.4(CDK4):c.16T>C (p.Tyr6His) rs2140388780
NM_000075.4(CDK4):c.19G>A (p.Glu7Lys) rs1000052939
NM_000075.4(CDK4):c.219-10C>G
NM_000075.4(CDK4):c.219-11A>G
NM_000075.4(CDK4):c.219-11A>T
NM_000075.4(CDK4):c.219-14T>C rs2140387656
NM_000075.4(CDK4):c.219-15dup
NM_000075.4(CDK4):c.219-17G>A rs767249235
NM_000075.4(CDK4):c.219-17G>C rs767249235
NM_000075.4(CDK4):c.219-17_219-16delinsAT
NM_000075.4(CDK4):c.219-18A>T
NM_000075.4(CDK4):c.219-20T>C
NM_000075.4(CDK4):c.219-4T>C rs2140387627
NM_000075.4(CDK4):c.219-5del rs2140387632
NM_000075.4(CDK4):c.219-6G>T
NM_000075.4(CDK4):c.219-8C>G
NM_000075.4(CDK4):c.219-9T>C rs2140387639
NM_000075.4(CDK4):c.219G>C (p.Arg73=)
NM_000075.4(CDK4):c.21G>A (p.Glu7=) rs2140388761
NM_000075.4(CDK4):c.220C>A (p.Leu74Met)
NM_000075.4(CDK4):c.220C>T (p.Leu74=)
NM_000075.4(CDK4):c.222G>T (p.Leu74=) rs565645344
NM_000075.4(CDK4):c.222_223delinsCT (p.Met75Leu) rs1955235130
NM_000075.4(CDK4):c.223A>C (p.Met75Leu) rs1343218987
NM_000075.4(CDK4):c.223A>G (p.Met75Val) rs1343218987
NM_000075.4(CDK4):c.223_230dup (p.Cys78fs) rs2140387576
NM_000075.4(CDK4):c.224T>C (p.Met75Thr)
NM_000075.4(CDK4):c.224T>G (p.Met75Arg) rs748983604
NM_000075.4(CDK4):c.228C>G (p.Asp76Glu) rs772531745
NM_000075.4(CDK4):c.235G>A (p.Ala79Thr) rs1555201333
NM_000075.4(CDK4):c.235G>C (p.Ala79Pro) rs1555201333
NM_000075.4(CDK4):c.241T>A (p.Ser81Thr)
NM_000075.4(CDK4):c.243C>T (p.Ser81=)
NM_000075.4(CDK4):c.244C>G (p.Arg82Gly) rs1398120196
NM_000075.4(CDK4):c.245G>C (p.Arg82Pro) rs3211612
NM_000075.4(CDK4):c.245G>T (p.Arg82Leu) rs3211612
NM_000075.4(CDK4):c.246A>C (p.Arg82=) rs2140387517
NM_000075.4(CDK4):c.248C>A (p.Thr83Asn) rs1595110800
NM_000075.4(CDK4):c.249T>C (p.Thr83=)
NM_000075.4(CDK4):c.249T>G (p.Thr83=)
NM_000075.4(CDK4):c.24A>G (p.Pro8=)
NM_000075.4(CDK4):c.251A>T (p.Asp84Val)
NM_000075.4(CDK4):c.253C>G (p.Arg85Gly) rs759017803
NM_000075.4(CDK4):c.253C>T (p.Arg85Trp) rs759017803
NM_000075.4(CDK4):c.253_256dup (p.Glu86fs) rs2140387483
NM_000075.4(CDK4):c.255G>A (p.Arg85=)
NM_000075.4(CDK4):c.255G>C (p.Arg85=)
NM_000075.4(CDK4):c.257A>T (p.Glu86Val)
NM_000075.4(CDK4):c.258G>A (p.Glu86=) rs1247612368
NM_000075.4(CDK4):c.261C>A (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.261C>T (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.264G>A (p.Lys88=) rs2140387452
NM_000075.4(CDK4):c.265G>A (p.Val89Ile) rs1190779336
NM_000075.4(CDK4):c.267A>G (p.Val89=) rs886049715
NM_000075.4(CDK4):c.269C>T (p.Thr90Ile) rs1955234447
NM_000075.4(CDK4):c.270C>A (p.Thr90=)
NM_000075.4(CDK4):c.270C>T (p.Thr90=) rs2140387429
NM_000075.4(CDK4):c.271C>T (p.Leu91=) rs949558438
NM_000075.4(CDK4):c.276G>A (p.Val92=) rs918094121
NM_000075.4(CDK4):c.276G>T (p.Val92=)
NM_000075.4(CDK4):c.279T>G (p.Phe93Leu) rs1478574297
NM_000075.4(CDK4):c.27G>A (p.Val9=) rs2140388745
NM_000075.4(CDK4):c.282G>A (p.Glu94=)
NM_000075.4(CDK4):c.283C>T (p.His95Tyr)
NM_000075.4(CDK4):c.284A>T (p.His95Leu)
NM_000075.4(CDK4):c.285T>C (p.His95=) rs757492324
NM_000075.4(CDK4):c.287T>C (p.Val96Ala) rs1955234241
NM_000075.4(CDK4):c.289G>A (p.Asp97Asn) rs1060501932
NM_000075.4(CDK4):c.289G>C (p.Asp97His) rs1060501932
NM_000075.4(CDK4):c.28G>A (p.Ala10Thr) rs1955239777
NM_000075.4(CDK4):c.291C>A (p.Asp97Glu) rs1595110740
NM_000075.4(CDK4):c.292C>T (p.Gln98Ter)
NM_000075.4(CDK4):c.295G>A (p.Asp99Asn) rs1955234069
NM_000075.4(CDK4):c.297C>T (p.Asp99=) rs1595110736
NM_000075.4(CDK4):c.298C>T (p.Leu100=)
NM_000075.4(CDK4):c.300A>G (p.Leu100=) rs2140387344
NM_000075.4(CDK4):c.302G>A (p.Arg101Lys)
NM_000075.4(CDK4):c.303G>A (p.Arg101=)
NM_000075.4(CDK4):c.304A>G (p.Thr102Ala)
NM_000075.4(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.306_322del (p.Tyr103fs) rs1955233713
NM_000075.4(CDK4):c.307dup (p.Tyr103fs) rs1955233961
NM_000075.4(CDK4):c.308A>C (p.Tyr103Ser)
NM_000075.4(CDK4):c.310C>A (p.Leu104Met) rs759535768
NM_000075.4(CDK4):c.310C>G (p.Leu104Val)
NM_000075.4(CDK4):c.311T>A (p.Leu104Gln)
NM_000075.4(CDK4):c.312G>A (p.Leu104=) rs2140387313
NM_000075.4(CDK4):c.314A>G (p.Asp105Gly)
NM_000075.4(CDK4):c.315C>A (p.Asp105Glu) rs1158206003
NM_000075.4(CDK4):c.315C>G (p.Asp105Glu) rs1158206003
NM_000075.4(CDK4):c.317A>G (p.Lys106Arg) rs1955233800
NM_000075.4(CDK4):c.318G>T (p.Lys106Asn)
NM_000075.4(CDK4):c.319G>A (p.Ala107Thr) rs1955233778
NM_000075.4(CDK4):c.31G>T (p.Glu11Ter) rs2140388732
NM_000075.4(CDK4):c.320C>T (p.Ala107Val) rs1955233758
NM_000075.4(CDK4):c.323C>A (p.Pro108His) rs1595110706
NM_000075.4(CDK4):c.324C>G (p.Pro108=) rs774075369
NM_000075.4(CDK4):c.324C>T (p.Pro108=)
NM_000075.4(CDK4):c.325C>G (p.Pro109Ala)
NM_000075.4(CDK4):c.325C>T (p.Pro109Ser) rs1345420183
NM_000075.4(CDK4):c.328C>T (p.Pro110Ser)
NM_000075.4(CDK4):c.329C>G (p.Pro110Arg)
NM_000075.4(CDK4):c.331G>A (p.Gly111Ser) rs1277385976
NM_000075.4(CDK4):c.332G>A (p.Gly111Asp)
NM_000075.4(CDK4):c.333C>A (p.Gly111=) rs1595110689
NM_000075.4(CDK4):c.333C>T (p.Gly111=) rs1595110689
NM_000075.4(CDK4):c.334T>C (p.Leu112=) rs1555201318
NM_000075.4(CDK4):c.338C>A (p.Pro113Gln) rs1955233297
NM_000075.4(CDK4):c.339A>T (p.Pro113=) rs2140387235
NM_000075.4(CDK4):c.340G>A (p.Ala114Thr)
NM_000075.4(CDK4):c.340G>C (p.Ala114Pro) rs1955233266
NM_000075.4(CDK4):c.342C>G (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.342C>T (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.343G>C (p.Glu115Gln) rs772938517
NM_000075.4(CDK4):c.343G>T (p.Glu115Ter)
NM_000075.4(CDK4):c.344A>C (p.Glu115Ala) rs1955233133
NM_000075.4(CDK4):c.347_348delinsGA (p.Thr116Arg)
NM_000075.4(CDK4):c.348G>T (p.Thr116=)
NM_000075.4(CDK4):c.351C>A (p.Ile117=)
NM_000075.4(CDK4):c.351C>T (p.Ile117=)
NM_000075.4(CDK4):c.354+10G>A rs1955232744
NM_000075.4(CDK4):c.354+10G>C
NM_000075.4(CDK4):c.354+11T>G
NM_000075.4(CDK4):c.354+12T>G
NM_000075.4(CDK4):c.354+14G>A
NM_000075.4(CDK4):c.354+15T>C rs2140387135
NM_000075.4(CDK4):c.354+16A>G rs2140387134
NM_000075.4(CDK4):c.354+17G>C
NM_000075.4(CDK4):c.354+18G>A
NM_000075.4(CDK4):c.354+3G>A rs746395249
NM_000075.4(CDK4):c.354+5G>A
NM_000075.4(CDK4):c.354+5G>T
NM_000075.4(CDK4):c.354+6T>A rs1955232809
NM_000075.4(CDK4):c.354+8G>C rs2140387160
NM_000075.4(CDK4):c.354+9G>C rs771456729
NM_000075.4(CDK4):c.355-10T>C rs1595110574
NM_000075.4(CDK4):c.355-13C>G rs2140386844
NM_000075.4(CDK4):c.355-14C>T
NM_000075.4(CDK4):c.355-16T>C rs1404144583
NM_000075.4(CDK4):c.355-17C>T
NM_000075.4(CDK4):c.355-18C>T
NM_000075.4(CDK4):c.355-4C>T rs1406247863
NM_000075.4(CDK4):c.355-7A>C
NM_000075.4(CDK4):c.355G>C (p.Asp119His) rs2140386821
NM_000075.4(CDK4):c.356A>C (p.Asp119Ala) rs1236598333
NM_000075.4(CDK4):c.358C>A (p.Leu120Met)
NM_000075.4(CDK4):c.358C>T (p.Leu120=)
NM_000075.4(CDK4):c.359T>A (p.Leu120Gln) rs1955231423
NM_000075.4(CDK4):c.35T>C (p.Ile12Thr)
NM_000075.4(CDK4):c.363G>A (p.Met121Ile)
NM_000075.4(CDK4):c.366C>A (p.Arg122=)
NM_000075.4(CDK4):c.367C>T (p.Gln123Ter) rs1565806579
NM_000075.4(CDK4):c.369G>A (p.Gln123=) rs1955231243
NM_000075.4(CDK4):c.369G>T (p.Gln123His) rs1955231243
NM_000075.4(CDK4):c.36del (p.Ile12fs) rs2140388718
NM_000075.4(CDK4):c.370T>C (p.Phe124Leu) rs1955231212
NM_000075.4(CDK4):c.371T>C (p.Phe124Ser) rs2140386772
NM_000075.4(CDK4):c.372T>C (p.Phe124=) rs748374728
NM_000075.4(CDK4):c.373C>T (p.Leu125=)
NM_000075.4(CDK4):c.375A>G (p.Leu125=) rs2640603
NM_000075.4(CDK4):c.376A>G (p.Arg126Gly) rs1565806573
NM_000075.4(CDK4):c.377G>C (p.Arg126Thr)
NM_000075.4(CDK4):c.378A>G (p.Arg126=)
NM_000075.4(CDK4):c.381C>T (p.Gly127=) rs781207390
NM_000075.4(CDK4):c.382C>T (p.Leu128=)
NM_000075.4(CDK4):c.38G>A (p.Gly13Asp) rs753152604
NM_000075.4(CDK4):c.38G>T (p.Gly13Val) rs753152604
NM_000075.4(CDK4):c.390C>T (p.Phe130=)
NM_000075.4(CDK4):c.392T>G (p.Leu131Arg) rs1955230904
NM_000075.4(CDK4):c.393T>A (p.Leu131=)
NM_000075.4(CDK4):c.397G>A (p.Ala133Thr) rs751684879
NM_000075.4(CDK4):c.399C>T (p.Ala133=) rs2140386689
NM_000075.4(CDK4):c.39T>A (p.Gly13=) rs1595111230
NM_000075.4(CDK4):c.401A>G (p.Asn134Ser) rs1595110530
NM_000075.4(CDK4):c.405C>T (p.Cys135=)
NM_000075.4(CDK4):c.406A>G (p.Ile136Val)
NM_000075.4(CDK4):c.408C>A (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.408C>G (p.Ile136Met)
NM_000075.4(CDK4):c.408C>T (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.409G>C (p.Val137Leu) rs150281463
NM_000075.4(CDK4):c.414C>G (p.His138Gln) rs1955230706
NM_000075.4(CDK4):c.415C>G (p.Arg139Gly) rs753579957
NM_000075.4(CDK4):c.41T>C (p.Val14Ala)
NM_000075.4(CDK4):c.420T>C (p.Asp140=) rs863224321
NM_000075.4(CDK4):c.423G>A (p.Leu141=) rs760242081
NM_000075.4(CDK4):c.429A>G (p.Pro143=) rs863224322
NM_000075.4(CDK4):c.42C>G (p.Val14=)
NM_000075.4(CDK4):c.42C>T (p.Val14=) rs786203182
NM_000075.4(CDK4):c.42_45del (p.Gly15fs) rs2140388683
NM_000075.4(CDK4):c.430G>A (p.Glu144Lys)
NM_000075.4(CDK4):c.430G>C (p.Glu144Gln)
NM_000075.4(CDK4):c.435C>T (p.Asn145=)
NM_000075.4(CDK4):c.43G>A (p.Gly15Ser) rs1355460580
NM_000075.4(CDK4):c.43G>C (p.Gly15Arg) rs1355460580
NM_000075.4(CDK4):c.442G>T (p.Val148Leu) rs1595110489
NM_000075.4(CDK4):c.444G>A (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.444G>T (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.445A>G (p.Thr149Ala)
NM_000075.4(CDK4):c.448A>G (p.Ser150Gly)
NM_000075.4(CDK4):c.44G>T (p.Gly15Val)
NM_000075.4(CDK4):c.453T>C (p.Gly151=) rs2140386487
NM_000075.4(CDK4):c.456A>T (p.Gly152=) rs2140386481
NM_000075.4(CDK4):c.457A>T (p.Thr153Ser) rs2140386477
NM_000075.4(CDK4):c.458C>G (p.Thr153Arg) rs1443076952
NM_000075.4(CDK4):c.462C>G (p.Val154=) rs1190412756
NM_000075.4(CDK4):c.465G>A (p.Lys155=) rs2140386451
NM_000075.4(CDK4):c.466C>T (p.Leu156=)
NM_000075.4(CDK4):c.468G>A (p.Leu156=)
NM_000075.4(CDK4):c.471T>C (p.Ala157=) rs2140386433
NM_000075.4(CDK4):c.474C>G (p.Asp158Glu)
NM_000075.4(CDK4):c.477del (p.Phe159fs) rs786203016
NM_000075.4(CDK4):c.481C>G (p.Leu161Val)
NM_000075.4(CDK4):c.483G>A (p.Leu161=)
NM_000075.4(CDK4):c.484G>A (p.Ala162Thr)
NM_000075.4(CDK4):c.484G>C (p.Ala162Pro) rs1555201301
NM_000075.4(CDK4):c.485C>A (p.Ala162Asp) rs1565806506
NM_000075.4(CDK4):c.487_488delinsGC (p.Arg163Ala) rs1955229482
NM_000075.4(CDK4):c.48C>G (p.Ala16=) rs1311074831
NM_000075.4(CDK4):c.48C>T (p.Ala16=)
NM_000075.4(CDK4):c.491T>G (p.Ile164Ser)
NM_000075.4(CDK4):c.492C>T (p.Ile164=)
NM_000075.4(CDK4):c.494A>G (p.Tyr165Cys) rs1955229396
NM_000075.4(CDK4):c.496A>G (p.Ser166Gly) rs1487656600
NM_000075.4(CDK4):c.497G>C (p.Ser166Thr) rs876660536
NM_000075.4(CDK4):c.498C>T (p.Ser166=)
NM_000075.4(CDK4):c.49T>C (p.Tyr17His) rs1555201383
NM_000075.4(CDK4):c.4G>A (p.Ala2Thr) rs1483991096
NM_000075.4(CDK4):c.500A>G (p.Tyr167Cys)
NM_000075.4(CDK4):c.502C>T (p.Gln168Ter) rs1555201299
NM_000075.4(CDK4):c.504G>C (p.Gln168His) rs770086242
NM_000075.4(CDK4):c.505A>G (p.Met169Val)
NM_000075.4(CDK4):c.505_522+5del rs1555201295
NM_000075.4(CDK4):c.50A>G (p.Tyr17Cys) rs781527596
NM_000075.4(CDK4):c.513T>C (p.Leu171=) rs748319770
NM_000075.4(CDK4):c.515C>G (p.Thr172Arg)
NM_000075.4(CDK4):c.517C>A (p.Pro173Thr) rs768904034
NM_000075.4(CDK4):c.519C>A (p.Pro173=)
NM_000075.4(CDK4):c.519C>G (p.Pro173=) rs747084709
NM_000075.4(CDK4):c.51T>A (p.Tyr17Ter) rs2140388654
NM_000075.4(CDK4):c.51T>C (p.Tyr17=) rs2140388654
NM_000075.4(CDK4):c.522+10_522+13del
NM_000075.4(CDK4):c.522+15G>A
NM_000075.4(CDK4):c.522+16G>A
NM_000075.4(CDK4):c.522+17T>C rs2140386235
NM_000075.4(CDK4):c.522+18A>G rs1555201289
NM_000075.4(CDK4):c.522+20C>T rs2140386226
NM_000075.4(CDK4):c.522+7A>G rs1294665075
NM_000075.4(CDK4):c.522+8del
NM_000075.4(CDK4):c.522+9A>C rs2140386258
NM_000075.4(CDK4):c.523-10T>A
NM_000075.4(CDK4):c.523-10T>C rs1060504384
NM_000075.4(CDK4):c.523-13C>T
NM_000075.4(CDK4):c.523-15T>G
NM_000075.4(CDK4):c.523-17C>T
NM_000075.4(CDK4):c.523-19T>C
NM_000075.4(CDK4):c.523-20A>C
NM_000075.4(CDK4):c.523-20A>G
NM_000075.4(CDK4):c.523-20A>T rs1595110299
NM_000075.4(CDK4):c.523-6C>T
NM_000075.4(CDK4):c.523-7C>T rs2140385923
NM_000075.4(CDK4):c.523-8C>T
NM_000075.4(CDK4):c.524T>C (p.Val175Ala) rs2140385900
NM_000075.4(CDK4):c.527T>C (p.Val176Ala) rs2140385892
NM_000075.4(CDK4):c.528T>C (p.Val176=)
NM_000075.4(CDK4):c.529A>G (p.Thr177Ala) rs1555201280
NM_000075.4(CDK4):c.530C>A (p.Thr177Lys)
NM_000075.4(CDK4):c.530C>T (p.Thr177Ile)
NM_000075.4(CDK4):c.531A>C (p.Thr177=)
NM_000075.4(CDK4):c.531A>G (p.Thr177=) rs2140385880
NM_000075.4(CDK4):c.534C>G (p.Leu178=) rs11547327
NM_000075.4(CDK4):c.535T>C (p.Trp179Arg)
NM_000075.4(CDK4):c.537G>C (p.Trp179Cys) rs2140385865
NM_000075.4(CDK4):c.540C>T (p.Tyr180=)
NM_000075.4(CDK4):c.541C>G (p.Arg181Gly) rs1595110257
NM_000075.4(CDK4):c.541C>T (p.Arg181Ter)
NM_000075.4(CDK4):c.542G>C (p.Arg181Pro) rs772079285
NM_000075.4(CDK4):c.544G>T (p.Ala182Ser)
NM_000075.4(CDK4):c.549C>G (p.Pro183=) rs778696237
NM_000075.4(CDK4):c.549_567del (p.Glu184fs) rs1955226726
NM_000075.4(CDK4):c.54G>A (p.Gly18=)
NM_000075.4(CDK4):c.54G>C (p.Gly18=)
NM_000075.4(CDK4):c.54G>T (p.Gly18=)
NM_000075.4(CDK4):c.550G>A (p.Glu184Lys) rs1595110227
NM_000075.4(CDK4):c.550G>T (p.Glu184Ter)
NM_000075.4(CDK4):c.552A>G (p.Glu184=) rs2140385820
NM_000075.4(CDK4):c.555T>A (p.Val185=)
NM_000075.4(CDK4):c.555TCT[1] (p.Leu187del) rs2140385796
NM_000075.4(CDK4):c.556C>T (p.Leu186Phe)
NM_000075.4(CDK4):c.55A>G (p.Thr19Ala) rs1595111197
NM_000075.4(CDK4):c.560T>G (p.Leu187Arg) rs1955226839
NM_000075.4(CDK4):c.561G>T (p.Leu187=) rs864622342
NM_000075.4(CDK4):c.562C>A (p.Gln188Lys) rs1555201274
NM_000075.4(CDK4):c.563A>G (p.Gln188Arg) rs2140385786
NM_000075.4(CDK4):c.564G>A (p.Gln188=) rs1057521685
NM_000075.4(CDK4):c.566C>A (p.Ser189Tyr)
NM_000075.4(CDK4):c.567C>T (p.Ser189=) rs144422354
NM_000075.4(CDK4):c.569C>T (p.Thr190Ile) rs2140385772
NM_000075.4(CDK4):c.570A>C (p.Thr190=) rs1428628208
NM_000075.4(CDK4):c.570A>G (p.Thr190=)
NM_000075.4(CDK4):c.570A>T (p.Thr190=)
NM_000075.4(CDK4):c.571T>A (p.Tyr191Asn) rs1955226614
NM_000075.4(CDK4):c.571T>C (p.Tyr191His) rs1955226614
NM_000075.4(CDK4):c.572A>G (p.Tyr191Cys) rs1955226587
NM_000075.4(CDK4):c.573T>C (p.Tyr191=) rs878853623
NM_000075.4(CDK4):c.575C>G (p.Ala192Gly) rs2140385751
NM_000075.4(CDK4):c.576A>G (p.Ala192=)
NM_000075.4(CDK4):c.577A>T (p.Thr193Ser) rs543769986
NM_000075.4(CDK4):c.578C>T (p.Thr193Ile) rs1955226446
NM_000075.4(CDK4):c.57A>G (p.Thr19=)
NM_000075.4(CDK4):c.580C>A (p.Pro194Thr)
NM_000075.4(CDK4):c.581C>A (p.Pro194His) rs1198423952
NM_000075.4(CDK4):c.581C>T (p.Pro194Leu) rs1198423952
NM_000075.4(CDK4):c.583G>A (p.Val195Met) rs1955226317
NM_000075.4(CDK4):c.588C>T (p.Asp196=) rs2140385708
NM_000075.4(CDK4):c.590T>C (p.Met197Thr) rs975342748
NM_000075.4(CDK4):c.592T>C (p.Trp198Arg)
NM_000075.4(CDK4):c.595A>C (p.Ser199Arg)
NM_000075.4(CDK4):c.598G>T (p.Val200Phe) rs2140385681
NM_000075.4(CDK4):c.599T>C (p.Val200Ala) rs1060501929
NM_000075.4(CDK4):c.599T>G (p.Val200Gly) rs1060501929
NM_000075.4(CDK4):c.59T>C (p.Val20Ala)
NM_000075.4(CDK4):c.600T>C (p.Val200=)
NM_000075.4(CDK4):c.600T>G (p.Val200=) rs2140385676
NM_000075.4(CDK4):c.603C>G (p.Gly201=) rs2140385667
NM_000075.4(CDK4):c.603C>T (p.Gly201=)
NM_000075.4(CDK4):c.606T>C (p.Cys202=)
NM_000075.4(CDK4):c.607A>G (p.Ile203Val)
NM_000075.4(CDK4):c.609C>A (p.Ile203=) rs864622504
NM_000075.4(CDK4):c.610T>A (p.Phe204Ile) rs1955226021
NM_000075.4(CDK4):c.611T>C (p.Phe204Ser)
NM_000075.4(CDK4):c.612T>C (p.Phe204=) rs1555201266
NM_000075.4(CDK4):c.613G>A (p.Ala205Thr) rs368013594
NM_000075.4(CDK4):c.620T>C (p.Met207Thr) rs1339920302
NM_000075.4(CDK4):c.628C>T (p.Arg210Ter) rs1595110146
NM_000075.4(CDK4):c.629G>C (p.Arg210Pro) rs373619077
NM_000075.4(CDK4):c.629G>T (p.Arg210Leu) rs373619077
NM_000075.4(CDK4):c.630A>C (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.630A>G (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.631A>C (p.Lys211Gln)
NM_000075.4(CDK4):c.632+10C>G rs1367377055
NM_000075.4(CDK4):c.632+11C>A
NM_000075.4(CDK4):c.632+13C>T
NM_000075.4(CDK4):c.632+15T>A
NM_000075.4(CDK4):c.632+15_632+16del rs1955225343
NM_000075.4(CDK4):c.632+19C>G rs1027122710
NM_000075.4(CDK4):c.632+19C>T
NM_000075.4(CDK4):c.632+1_632+33del
NM_000075.4(CDK4):c.632+20T>A
NM_000075.4(CDK4):c.632+4T>A rs1397979744
NM_000075.4(CDK4):c.632+5G>A
NM_000075.4(CDK4):c.632+5dup rs1555201260
NM_000075.4(CDK4):c.632+7G>A rs1955225535
NM_000075.4(CDK4):c.632+7G>T rs1955225535
NM_000075.4(CDK4):c.632+7del
NM_000075.4(CDK4):c.632A>C (p.Lys211Thr) rs765656720
NM_000075.4(CDK4):c.63C>T (p.Tyr21=)
NM_000075.4(CDK4):c.69C>T (p.Ala23=)
NM_000075.4(CDK4):c.6T>A (p.Ala2=) rs1057523632
NM_000075.4(CDK4):c.70C>G (p.Arg24Gly) rs11547328
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000075.4(CDK4):c.75T>C (p.Asp25=)
NM_000075.4(CDK4):c.78C>T (p.Pro26=) rs1057523487
NM_000075.4(CDK4):c.81C>T (p.His27=)
NM_000075.4(CDK4):c.82A>G (p.Ser28Gly)
NM_000075.4(CDK4):c.87C>G (p.Gly29=) rs1555201376
NM_000075.4(CDK4):c.88C>T (p.His30Tyr) rs750707985
NM_000075.4(CDK4):c.90C>T (p.His30=) rs2140388517
NM_000075.4(CDK4):c.93T>C (p.Phe31=)
NM_000075.4(CDK4):c.93T>G (p.Phe31Leu) rs1595111145
NM_000075.4(CDK4):c.96G>A (p.Val32=)
NM_000075.4(CDK4):c.99C>T (p.Ala33=)
NM_000075.4(CDK4):c.9C>G (p.Thr3=)

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