1 |
CDK4
|
NM_000075.3(CDK4): c.70C> T (p.Arg24Cys)
|
single nucleotide variant |
Pathogenic |
rs11547328
|
GRCh37 |
Chromosome 12, 58145431: 58145431 |
2 |
CDK4
|
NM_000075.3(CDK4): c.70C> T (p.Arg24Cys)
|
single nucleotide variant |
Pathogenic |
rs11547328
|
GRCh38 |
Chromosome 12, 57751648: 57751648 |
3 |
CDK4
|
NM_000075.3(CDK4): c.71G> A (p.Arg24His)
|
single nucleotide variant |
Likely pathogenic,risk factor |
rs104894340
|
GRCh37 |
Chromosome 12, 58145430: 58145430 |
4 |
CDK4
|
NM_000075.3(CDK4): c.71G> A (p.Arg24His)
|
single nucleotide variant |
Likely pathogenic,risk factor |
rs104894340
|
GRCh38 |
Chromosome 12, 57751647: 57751647 |
5 |
CDK4
|
NM_000075.3(CDK4): c.776C> T (p.Ser259Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201617914
|
GRCh37 |
Chromosome 12, 58143008: 58143008 |
6 |
CDK4
|
NM_000075.3(CDK4): c.776C> T (p.Ser259Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201617914
|
GRCh38 |
Chromosome 12, 57749225: 57749225 |
7 |
CDK4
|
NM_000075.3(CDK4): c.364C> T (p.Arg122Cys)
|
single nucleotide variant |
Uncertain significance |
rs587778185
|
GRCh37 |
Chromosome 12, 58144864: 58144864 |
8 |
CDK4
|
NM_000075.3(CDK4): c.364C> T (p.Arg122Cys)
|
single nucleotide variant |
Uncertain significance |
rs587778185
|
GRCh38 |
Chromosome 12, 57751081: 57751081 |
9 |
CDK4
|
NM_000075.3(CDK4): c.661G> A (p.Asp221Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs587778187
|
GRCh37 |
Chromosome 12, 58143259: 58143259 |
10 |
CDK4
|
NM_000075.3(CDK4): c.661G> A (p.Asp221Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs587778187
|
GRCh38 |
Chromosome 12, 57749476: 57749476 |
11 |
CDK4
|
NM_000075.3(CDK4): c.122A> G (p.Asn41Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144890720
|
GRCh37 |
Chromosome 12, 58145379: 58145379 |
12 |
CDK4
|
NM_000075.3(CDK4): c.122A> G (p.Asn41Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144890720
|
GRCh38 |
Chromosome 12, 57751596: 57751596 |
13 |
CDK4
|
NM_000075.3(CDK4): c.625C> T (p.Arg209Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140644696
|
GRCh37 |
Chromosome 12, 58144446: 58144446 |
14 |
CDK4
|
NM_000075.3(CDK4): c.625C> T (p.Arg209Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140644696
|
GRCh38 |
Chromosome 12, 57750663: 57750663 |
15 |
CDK4
|
NM_000075.3(CDK4): c.764G> A (p.Arg255His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144657355
|
GRCh37 |
Chromosome 12, 58143020: 58143020 |
16 |
CDK4
|
NM_000075.3(CDK4): c.764G> A (p.Arg255His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144657355
|
GRCh38 |
Chromosome 12, 57749237: 57749237 |
17 |
CDK4
|
NM_000075.3(CDK4): c.696G> A (p.Leu232=)
|
single nucleotide variant |
Benign |
rs2227953
|
GRCh37 |
Chromosome 12, 58143088: 58143088 |
18 |
CDK4
|
NM_000075.3(CDK4): c.696G> A (p.Leu232=)
|
single nucleotide variant |
Benign |
rs2227953
|
GRCh38 |
Chromosome 12, 57749305: 57749305 |
19 |
CDK4
|
NM_000075.3(CDK4): c.549C> T (p.Pro183=)
|
single nucleotide variant |
Likely benign |
rs778696237
|
GRCh37 |
Chromosome 12, 58144522: 58144522 |
20 |
CDK4
|
NM_000075.3(CDK4): c.549C> T (p.Pro183=)
|
single nucleotide variant |
Likely benign |
rs778696237
|
GRCh38 |
Chromosome 12, 57750739: 57750739 |
21 |
CDK4
|
NM_000075.3(CDK4): c.520G> A (p.Val174Met)
|
single nucleotide variant |
Uncertain significance |
rs780052789
|
GRCh37 |
Chromosome 12, 58144708: 58144708 |
22 |
CDK4
|
NM_000075.3(CDK4): c.520G> A (p.Val174Met)
|
single nucleotide variant |
Uncertain significance |
rs780052789
|
GRCh38 |
Chromosome 12, 57750925: 57750925 |
23 |
CDK4
|
NM_000075.3(CDK4): c.447A> G (p.Thr149=)
|
single nucleotide variant |
Benign |
rs2069501
|
GRCh37 |
Chromosome 12, 58144781: 58144781 |
24 |
CDK4
|
NM_000075.3(CDK4): c.447A> G (p.Thr149=)
|
single nucleotide variant |
Benign |
rs2069501
|
GRCh38 |
Chromosome 12, 57750998: 57750998 |
25 |
CDK4
|
NM_000075.3(CDK4): c.306A> G (p.Thr102=)
|
single nucleotide variant |
Benign/Likely benign |
rs201202764
|
GRCh37 |
Chromosome 12, 58145038: 58145038 |
26 |
CDK4
|
NM_000075.3(CDK4): c.306A> G (p.Thr102=)
|
single nucleotide variant |
Benign/Likely benign |
rs201202764
|
GRCh38 |
Chromosome 12, 57751255: 57751255 |
27 |
CDK4
|
NM_000075.3(CDK4): c.689T> C (p.Ile230Thr)
|
single nucleotide variant |
Uncertain significance |
rs760435132
|
GRCh37 |
Chromosome 12, 58143095: 58143095 |
28 |
CDK4
|
NM_000075.3(CDK4): c.689T> C (p.Ile230Thr)
|
single nucleotide variant |
Uncertain significance |
rs760435132
|
GRCh38 |
Chromosome 12, 57749312: 57749312 |
29 |
CDK4
|
NM_000075.3(CDK4): c.132_134delAGG (p.Gly48del)
|
deletion |
Uncertain significance |
rs770784286
|
GRCh37 |
Chromosome 12, 58145367: 58145369 |
30 |
CDK4
|
NM_000075.3(CDK4): c.132_134delAGG (p.Gly48del)
|
deletion |
Uncertain significance |
rs770784286
|
GRCh38 |
Chromosome 12, 57751584: 57751586 |
31 |
CDK4
|
NM_000075.3(CDK4): c.355-12C> T
|
single nucleotide variant |
Likely benign |
rs1004281478
|
GRCh37 |
Chromosome 12, 58144885: 58144885 |
32 |
CDK4
|
NM_000075.3(CDK4): c.355-12C> T
|
single nucleotide variant |
Likely benign |
rs1004281478
|
GRCh38 |
Chromosome 12, 57751102: 57751102 |
33 |
CDK4
|
NM_000075.3(CDK4): c.132_143delAGGTGGAGGAGG (p.Gly45_Gly48del)
|
deletion |
Uncertain significance |
rs749094206
|
GRCh37 |
Chromosome 12, 58145358: 58145369 |
34 |
CDK4
|
NM_000075.3(CDK4): c.132_143delAGGTGGAGGAGG (p.Gly45_Gly48del)
|
deletion |
Uncertain significance |
rs749094206
|
GRCh38 |
Chromosome 12, 57751575: 57751586 |
35 |
CDK4
|
NM_000075.3(CDK4): c.632+9C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
|
GRCh38 |
Chromosome 12, 57750647: 57750647 |
36 |
CDK4
|
NM_000075.3(CDK4): c.632+9C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
|
GRCh37 |
Chromosome 12, 58144430: 58144430 |
37 |
CDK4
|
NM_000075.3(CDK4): c.19G> A (p.Glu7Lys)
|
single nucleotide variant |
Uncertain significance |
rs1000052939
|
GRCh38 |
Chromosome 12, 57751699: 57751699 |
38 |
CDK4
|
NM_000075.3(CDK4): c.19G> A (p.Glu7Lys)
|
single nucleotide variant |
Uncertain significance |
rs1000052939
|
GRCh37 |
Chromosome 12, 58145482: 58145482 |
39 |
CDK4
|
NM_000075.3(CDK4): c.841C> T (p.His281Tyr)
|
single nucleotide variant |
Uncertain significance |
rs876659522
|
GRCh37 |
Chromosome 12, 58142379: 58142379 |
40 |
CDK4
|
NM_000075.3(CDK4): c.841C> T (p.His281Tyr)
|
single nucleotide variant |
Uncertain significance |
rs876659522
|
GRCh38 |
Chromosome 12, 57748596: 57748596 |
41 |
CDK4
|
NM_000075.3(CDK4): c.505_522+5del23
|
deletion |
Uncertain significance |
|
GRCh37 |
Chromosome 12, 58144701: 58144723 |
42 |
CDK4
|
NM_000075.3(CDK4): c.505_522+5del23
|
deletion |
Uncertain significance |
|
GRCh38 |
Chromosome 12, 57750918: 57750940 |
43 |
CDK4
|
NM_000075.3(CDK4): c.155G> T (p.Ser52Ile)
|
single nucleotide variant |
Uncertain significance |
rs760719270
|
GRCh38 |
Chromosome 12, 57751563: 57751563 |
44 |
CDK4
|
NM_000075.3(CDK4): c.155G> T (p.Ser52Ile)
|
single nucleotide variant |
Uncertain significance |
rs760719270
|
GRCh37 |
Chromosome 12, 58145346: 58145346 |
45 |
CDK4
|
NM_000075.3(CDK4): c.133G> C (p.Gly45Arg)
|
single nucleotide variant |
Uncertain significance |
rs876660318
|
GRCh38 |
Chromosome 12, 57751585: 57751585 |
46 |
CDK4
|
NM_000075.3(CDK4): c.133G> C (p.Gly45Arg)
|
single nucleotide variant |
Uncertain significance |
rs876660318
|
GRCh37 |
Chromosome 12, 58145368: 58145368 |