1 |
TRPV4
|
NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)
|
single nucleotide variant |
Pathogenic |
rs267607143
|
GRCh37 |
Chromosome 12, 110236628: 110236628 |
2 |
TRPV4
|
NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)
|
single nucleotide variant |
Pathogenic |
rs267607143
|
GRCh38 |
Chromosome 12, 109798823: 109798823 |
3 |
TRPV4
|
NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)
|
single nucleotide variant |
Pathogenic |
rs267607145
|
GRCh37 |
Chromosome 12, 110236625: 110236625 |
4 |
TRPV4
|
NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)
|
single nucleotide variant |
Pathogenic |
rs267607145
|
GRCh38 |
Chromosome 12, 109798820: 109798820 |
5 |
TRPV4
|
NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)
|
single nucleotide variant |
Pathogenic |
rs267607146
|
GRCh37 |
Chromosome 12, 110238471: 110238471 |
6 |
TRPV4
|
NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)
|
single nucleotide variant |
Pathogenic |
rs267607146
|
GRCh38 |
Chromosome 12, 109800666: 109800666 |
7 |
TRPV4
|
NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser)
|
single nucleotide variant |
Benign |
rs3742030
|
GRCh37 |
Chromosome 12, 110252547: 110252547 |
8 |
TRPV4
|
NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser)
|
single nucleotide variant |
Benign |
rs3742030
|
GRCh38 |
Chromosome 12, 109814742: 109814742 |
9 |
TRPV4
|
NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs187864727
|
GRCh37 |
Chromosome 12, 110240859: 110240859 |
10 |
TRPV4
|
NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs187864727
|
GRCh38 |
Chromosome 12, 109803054: 109803054 |
11 |
TRPV4
|
NM_021625.4(TRPV4): c.789T> C (p.Asp263=)
|
single nucleotide variant |
Benign |
rs3742034
|
GRCh37 |
Chromosome 12, 110238487: 110238487 |
12 |
TRPV4
|
NM_021625.4(TRPV4): c.789T> C (p.Asp263=)
|
single nucleotide variant |
Benign |
rs3742034
|
GRCh38 |
Chromosome 12, 109800682: 109800682 |
13 |
TRPV4
|
NM_021625.4(TRPV4): c.795C> T (p.His265=)
|
single nucleotide variant |
Benign |
rs1344554
|
GRCh37 |
Chromosome 12, 110238481: 110238481 |
14 |
TRPV4
|
NM_021625.4(TRPV4): c.795C> T (p.His265=)
|
single nucleotide variant |
Benign |
rs1344554
|
GRCh38 |
Chromosome 12, 109800676: 109800676 |
15 |
TRPV4
|
NM_021625.4(TRPV4): c.1153-10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs149541389
|
GRCh37 |
Chromosome 12, 110234519: 110234519 |
16 |
TRPV4
|
NM_021625.4(TRPV4): c.1153-10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs149541389
|
GRCh38 |
Chromosome 12, 109796714: 109796714 |
17 |
TRPV4
|
NM_021625.4(TRPV4): c.2034C> T (p.Ile678=)
|
single nucleotide variant |
Benign |
rs3742037
|
GRCh37 |
Chromosome 12, 110226379: 110226379 |
18 |
TRPV4
|
NM_021625.4(TRPV4): c.2034C> T (p.Ile678=)
|
single nucleotide variant |
Benign |
rs3742037
|
GRCh38 |
Chromosome 12, 109788574: 109788574 |
19 |
TRPV4
|
NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys)
|
single nucleotide variant |
Benign/Likely benign |
rs55728855
|
GRCh37 |
Chromosome 12, 110221524: 110221524 |
20 |
TRPV4
|
NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys)
|
single nucleotide variant |
Benign/Likely benign |
rs55728855
|
GRCh38 |
Chromosome 12, 109783719: 109783719 |
21 |
TRPV4
|
NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs56177950
|
GRCh37 |
Chromosome 12, 110230597: 110230597 |
22 |
TRPV4
|
NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs56177950
|
GRCh38 |
Chromosome 12, 109792792: 109792792 |
23 |
TRPV4
|
NM_021625.4(TRPV4): c.33G> T (p.Gly11=)
|
single nucleotide variant |
Benign/Likely benign |
rs56092423
|
GRCh37 |
Chromosome 12, 110252569: 110252569 |
24 |
TRPV4
|
NM_021625.4(TRPV4): c.33G> T (p.Gly11=)
|
single nucleotide variant |
Benign/Likely benign |
rs56092423
|
GRCh38 |
Chromosome 12, 109814764: 109814764 |
25 |
TRPV4
|
NM_021625.4(TRPV4): c.854-4G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs371733585
|
GRCh37 |
Chromosome 12, 110236721: 110236721 |
26 |
TRPV4
|
NM_021625.4(TRPV4): c.854-4G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs371733585
|
GRCh38 |
Chromosome 12, 109798916: 109798916 |
27 |
TRPV4
|
NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr)
|
single nucleotide variant |
Uncertain significance |
rs138396764
|
GRCh38 |
Chromosome 12, 109783632: 109783632 |
28 |
TRPV4
|
NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr)
|
single nucleotide variant |
Uncertain significance |
rs138396764
|
GRCh37 |
Chromosome 12, 110221437: 110221437 |
29 |
TRPV4
|
NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs116035946
|
GRCh38 |
Chromosome 12, 109783739: 109783739 |
30 |
TRPV4
|
NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs116035946
|
GRCh37 |
Chromosome 12, 110221544: 110221544 |
31 |
TRPV4
|
NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile)
|
single nucleotide variant |
Likely benign |
rs148171058
|
GRCh38 |
Chromosome 12, 109786798: 109786798 |
32 |
TRPV4
|
NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile)
|
single nucleotide variant |
Likely benign |
rs148171058
|
GRCh37 |
Chromosome 12, 110224603: 110224603 |
33 |
TRPV4
|
NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val)
|
single nucleotide variant |
Likely benign |
rs115976458
|
GRCh38 |
Chromosome 12, 109793968: 109793968 |
34 |
TRPV4
|
NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val)
|
single nucleotide variant |
Likely benign |
rs115976458
|
GRCh37 |
Chromosome 12, 110231773: 110231773 |
35 |
TRPV4
|
NM_021625.4(TRPV4): c.1308C> T (p.Ile436=)
|
single nucleotide variant |
Benign/Likely benign |
rs141244183
|
GRCh38 |
Chromosome 12, 109796549: 109796549 |
36 |
TRPV4
|
NM_021625.4(TRPV4): c.1308C> T (p.Ile436=)
|
single nucleotide variant |
Benign/Likely benign |
rs141244183
|
GRCh37 |
Chromosome 12, 110234354: 110234354 |
37 |
TRPV4
|
NM_021625.4(TRPV4): c.769C> G (p.Leu257Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56217500
|
GRCh38 |
Chromosome 12, 109800702: 109800702 |
38 |
TRPV4
|
NM_021625.4(TRPV4): c.769C> G (p.Leu257Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56217500
|
GRCh37 |
Chromosome 12, 110238507: 110238507 |
39 |
TRPV4
|
NM_021625.4(TRPV4): c.712+10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs115657305
|
GRCh38 |
Chromosome 12, 109802981: 109802981 |
40 |
TRPV4
|
NM_021625.4(TRPV4): c.712+10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs115657305
|
GRCh37 |
Chromosome 12, 110240786: 110240786 |
41 |
TRPV4
|
NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs115861965
|
GRCh37 |
Chromosome 12, 110252450: 110252450 |
42 |
TRPV4
|
NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs115861965
|
GRCh38 |
Chromosome 12, 109814645: 109814645 |
43 |
TRPV4
|
NM_021625.4(TRPV4): c.2433G> C (p.Ser811=)
|
single nucleotide variant |
Benign/Likely benign |
rs34071623
|
GRCh38 |
Chromosome 12, 109784341: 109784341 |
44 |
TRPV4
|
NM_021625.4(TRPV4): c.2433G> C (p.Ser811=)
|
single nucleotide variant |
Benign/Likely benign |
rs34071623
|
GRCh37 |
Chromosome 12, 110222146: 110222146 |
45 |
TRPV4
|
NM_021625.4(TRPV4): c.810G> A (p.Gly270=)
|
single nucleotide variant |
Benign/Likely benign |
rs147558344
|
GRCh38 |
Chromosome 12, 109800661: 109800661 |
46 |
TRPV4
|
NM_021625.4(TRPV4): c.810G> A (p.Gly270=)
|
single nucleotide variant |
Benign/Likely benign |
rs147558344
|
GRCh37 |
Chromosome 12, 110238466: 110238466 |
47 |
TRPV4
|
NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met)
|
single nucleotide variant |
Benign/Likely benign |
rs185933892
|
GRCh38 |
Chromosome 12, 109792763: 109792763 |
48 |
TRPV4
|
NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met)
|
single nucleotide variant |
Benign/Likely benign |
rs185933892
|
GRCh37 |
Chromosome 12, 110230568: 110230568 |
49 |
TRPV4
|
NM_021625.4(TRPV4): c.1341C> T (p.His447=)
|
single nucleotide variant |
Benign/Likely benign |
rs57316123
|
GRCh37 |
Chromosome 12, 110232284: 110232284 |
50 |
TRPV4
|
NM_021625.4(TRPV4): c.1341C> T (p.His447=)
|
single nucleotide variant |
Benign/Likely benign |
rs57316123
|
GRCh38 |
Chromosome 12, 109794479: 109794479 |