1 |
CYP1B1
|
NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity, other |
rs57865060
|
GRCh37 |
Chromosome 2, 38301847: 38301847 |
2 |
CYP1B1
|
NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity, other |
rs57865060
|
GRCh38 |
Chromosome 2, 38074704: 38074704 |
3 |
CYP1B1
|
NM_000104.3(CYP1B1): c.142C> G (p.Arg48Gly)
|
single nucleotide variant |
Benign |
rs10012
|
GRCh37 |
Chromosome 2, 38302390: 38302390 |
4 |
CYP1B1
|
NM_000104.3(CYP1B1): c.142C> G (p.Arg48Gly)
|
single nucleotide variant |
Benign |
rs10012
|
GRCh38 |
Chromosome 2, 38075247: 38075247 |
5 |
CYP1B1
|
NM_000104.3(CYP1B1): c.355G> T (p.Ala119Ser)
|
single nucleotide variant |
Benign |
rs1056827
|
GRCh37 |
Chromosome 2, 38302177: 38302177 |
6 |
CYP1B1
|
NM_000104.3(CYP1B1): c.355G> T (p.Ala119Ser)
|
single nucleotide variant |
Benign |
rs1056827
|
GRCh38 |
Chromosome 2, 38075034: 38075034 |
7 |
LTBP2
|
NM_000428.2(LTBP2): c.3571G> A (p.Glu1191Lys)
|
single nucleotide variant |
Uncertain significance |
rs137854862
|
GRCh37 |
Chromosome 14, 74975388: 74975388 |
8 |
LTBP2
|
NM_000428.2(LTBP2): c.3571G> A (p.Glu1191Lys)
|
single nucleotide variant |
Uncertain significance |
rs137854862
|
GRCh38 |
Chromosome 14, 74508685: 74508685 |
9 |
LTBP2
|
NM_000428.2(LTBP2): c.3527-14T> C
|
single nucleotide variant |
Uncertain significance |
rs137854886
|
GRCh37 |
Chromosome 14, 74975446: 74975446 |
10 |
LTBP2
|
NM_000428.2(LTBP2): c.3527-14T> C
|
single nucleotide variant |
Uncertain significance |
rs137854886
|
GRCh38 |
Chromosome 14, 74508743: 74508743 |
11 |
CYP1B1
|
NM_000104.3(CYP1B1): c.1358A> G (p.Asn453Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1800440
|
GRCh37 |
Chromosome 2, 38298139: 38298139 |
12 |
CYP1B1
|
NM_000104.3(CYP1B1): c.1358A> G (p.Asn453Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1800440
|
GRCh38 |
Chromosome 2, 38070996: 38070996 |
13 |
CYP1B1
|
NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=)
|
single nucleotide variant |
Benign |
rs1056837
|
GRCh37 |
Chromosome 2, 38298150: 38298150 |
14 |
CYP1B1
|
NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=)
|
single nucleotide variant |
Benign |
rs1056837
|
GRCh38 |
Chromosome 2, 38071007: 38071007 |
15 |
CYP1B1
|
NM_000104.3(CYP1B1): c.729G> C (p.Val243=)
|
single nucleotide variant |
Benign/Likely benign |
rs9341249
|
GRCh37 |
Chromosome 2, 38301803: 38301803 |
16 |
CYP1B1
|
NM_000104.3(CYP1B1): c.729G> C (p.Val243=)
|
single nucleotide variant |
Benign/Likely benign |
rs9341249
|
GRCh38 |
Chromosome 2, 38074660: 38074660 |
17 |
CYP1B1
|
NM_000104.3(CYP1B1): c.564C> A (p.Gly188=)
|
single nucleotide variant |
Benign/Likely benign |
rs9341247
|
GRCh37 |
Chromosome 2, 38301968: 38301968 |
18 |
CYP1B1
|
NM_000104.3(CYP1B1): c.564C> A (p.Gly188=)
|
single nucleotide variant |
Benign/Likely benign |
rs9341247
|
GRCh38 |
Chromosome 2, 38074825: 38074825 |
19 |
CYP1B1
|
NM_000104.3(CYP1B1): c.-1-12C> T
|
single nucleotide variant |
Benign/Likely benign |
rs2617266
|
GRCh37 |
Chromosome 2, 38302544: 38302544 |
20 |
CYP1B1
|
NM_000104.3(CYP1B1): c.-1-12C> T
|
single nucleotide variant |
Benign/Likely benign |
rs2617266
|
GRCh38 |
Chromosome 2, 38075401: 38075401 |
21 |
LTBP2
|
NM_000428.2(LTBP2): c.2788+13C> T
|
single nucleotide variant |
Benign/Likely benign |
rs78258030
|
GRCh38 |
Chromosome 14, 74521898: 74521898 |
22 |
LTBP2
|
NM_000428.2(LTBP2): c.2788+13C> T
|
single nucleotide variant |
Benign/Likely benign |
rs78258030
|
GRCh37 |
Chromosome 14, 74988601: 74988601 |
23 |
LTBP2
|
NM_000428.2(LTBP2): c.2406T> C (p.Thr802=)
|
single nucleotide variant |
Benign/Likely benign |
rs699374
|
GRCh38 |
Chromosome 14, 74526097: 74526097 |
24 |
LTBP2
|
NM_000428.2(LTBP2): c.2406T> C (p.Thr802=)
|
single nucleotide variant |
Benign/Likely benign |
rs699374
|
GRCh37 |
Chromosome 14, 74992800: 74992800 |
25 |
LTBP2
|
NM_000428.2(LTBP2): c.1287G> A (p.Leu429=)
|
single nucleotide variant |
Benign/Likely benign |
rs61738025
|
GRCh38 |
Chromosome 14, 74552299: 74552299 |
26 |
LTBP2
|
NM_000428.2(LTBP2): c.1287G> A (p.Leu429=)
|
single nucleotide variant |
Benign/Likely benign |
rs61738025
|
GRCh37 |
Chromosome 14, 75019002: 75019002 |
27 |
LTBP2
|
NM_000428.2(LTBP2): c.956C> A (p.Pro319Gln)
|
single nucleotide variant |
Benign/Likely benign |
rs2304707
|
GRCh37 |
Chromosome 14, 75022271: 75022271 |
28 |
LTBP2
|
NM_000428.2(LTBP2): c.956C> A (p.Pro319Gln)
|
single nucleotide variant |
Benign/Likely benign |
rs2304707
|
GRCh38 |
Chromosome 14, 74555568: 74555568 |
29 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*2207G> A
|
single nucleotide variant |
Uncertain significance |
rs9341267
|
GRCh38 |
Chromosome 2, 38068515: 38068515 |
30 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*2207G> A
|
single nucleotide variant |
Uncertain significance |
rs9341267
|
GRCh37 |
Chromosome 2, 38295658: 38295658 |
31 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1938G> A
|
single nucleotide variant |
Uncertain significance |
rs570132783
|
GRCh38 |
Chromosome 2, 38068784: 38068784 |
32 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1938G> A
|
single nucleotide variant |
Uncertain significance |
rs570132783
|
GRCh37 |
Chromosome 2, 38295927: 38295927 |
33 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1781T> C
|
single nucleotide variant |
Uncertain significance |
rs750990195
|
GRCh37 |
Chromosome 2, 38296084: 38296084 |
34 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1781T> C
|
single nucleotide variant |
Uncertain significance |
rs750990195
|
GRCh38 |
Chromosome 2, 38068941: 38068941 |
35 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1730A> G
|
single nucleotide variant |
Uncertain significance |
rs886055991
|
GRCh37 |
Chromosome 2, 38296135: 38296135 |
36 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1730A> G
|
single nucleotide variant |
Uncertain significance |
rs886055991
|
GRCh38 |
Chromosome 2, 38068992: 38068992 |
37 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1141A> G
|
single nucleotide variant |
Uncertain significance |
rs759611970
|
GRCh37 |
Chromosome 2, 38296724: 38296724 |
38 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1141A> G
|
single nucleotide variant |
Uncertain significance |
rs759611970
|
GRCh38 |
Chromosome 2, 38069581: 38069581 |
39 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1062G> T
|
single nucleotide variant |
Uncertain significance |
rs185371002
|
GRCh37 |
Chromosome 2, 38296803: 38296803 |
40 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1062G> T
|
single nucleotide variant |
Uncertain significance |
rs185371002
|
GRCh38 |
Chromosome 2, 38069660: 38069660 |
41 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1005C> T
|
single nucleotide variant |
Uncertain significance |
rs35978993
|
GRCh37 |
Chromosome 2, 38296860: 38296860 |
42 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*1005C> T
|
single nucleotide variant |
Uncertain significance |
rs35978993
|
GRCh38 |
Chromosome 2, 38069717: 38069717 |
43 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*466G> A
|
single nucleotide variant |
Uncertain significance |
rs9341260
|
GRCh38 |
Chromosome 2, 38070256: 38070256 |
44 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*466G> A
|
single nucleotide variant |
Uncertain significance |
rs9341260
|
GRCh37 |
Chromosome 2, 38297399: 38297399 |
45 |
CYP1B1
|
NM_000104.3(CYP1B1): c.918G> A (p.Gly306=)
|
single nucleotide variant |
Uncertain significance |
rs748708268
|
GRCh38 |
Chromosome 2, 38074471: 38074471 |
46 |
CYP1B1
|
NM_000104.3(CYP1B1): c.918G> A (p.Gly306=)
|
single nucleotide variant |
Uncertain significance |
rs748708268
|
GRCh37 |
Chromosome 2, 38301614: 38301614 |
47 |
CYP1B1
|
NM_000104.3(CYP1B1): c.-97dupC
|
duplication |
Benign |
rs886056000
|
GRCh38 |
Chromosome 2, 38075875: 38075875 |
48 |
CYP1B1
|
NM_000104.3(CYP1B1): c.-197C> G
|
single nucleotide variant |
Uncertain significance |
rs886056001
|
GRCh38 |
Chromosome 2, 38075975: 38075975 |
49 |
CYP1B1
|
NM_000104.3(CYP1B1): c.-197C> G
|
single nucleotide variant |
Uncertain significance |
rs886056001
|
GRCh37 |
Chromosome 2, 38303117: 38303117 |
50 |
CYP1B1
|
NM_000104.3(CYP1B1): c.*3078G> A
|
single nucleotide variant |
Uncertain significance |
rs886055986
|
GRCh38 |
Chromosome 2, 38067644: 38067644 |