1 |
IL17RA
|
NM_014339.6(IL17RA): c.850C> T (p.Gln284Ter)
|
single nucleotide variant |
Pathogenic |
rs387906913
|
GRCh37 |
Chromosome 22, 17585619: 17585619 |
2 |
IL17RA
|
NM_014339.6(IL17RA): c.850C> T (p.Gln284Ter)
|
single nucleotide variant |
Pathogenic |
rs387906913
|
GRCh38 |
Chromosome 22, 17104729: 17104729 |
3 |
IL17RA
|
NM_014339.6(IL17RA): c.20C> T (p.Pro7Leu)
|
single nucleotide variant |
Likely benign |
rs143652002
|
GRCh38 |
Chromosome 22, 17085111: 17085111 |
4 |
IL17RA
|
NM_014339.6(IL17RA): c.20C> T (p.Pro7Leu)
|
single nucleotide variant |
Likely benign |
rs143652002
|
GRCh37 |
Chromosome 22, 17566001: 17566001 |
5 |
IL17RA
|
NM_014339.6(IL17RA): c.427C> T (p.Arg143Cys)
|
single nucleotide variant |
Uncertain significance |
rs145378071
|
GRCh37 |
Chromosome 22, 17581248: 17581248 |
6 |
IL17RA
|
NM_014339.6(IL17RA): c.427C> T (p.Arg143Cys)
|
single nucleotide variant |
Uncertain significance |
rs145378071
|
GRCh38 |
Chromosome 22, 17100358: 17100358 |
7 |
IL17RA
|
NM_014339.6(IL17RA): c.551-9G> T
|
single nucleotide variant |
Benign/Likely benign |
rs17205308
|
GRCh37 |
Chromosome 22, 17582877: 17582877 |
8 |
IL17RA
|
NM_014339.6(IL17RA): c.551-9G> T
|
single nucleotide variant |
Benign/Likely benign |
rs17205308
|
GRCh38 |
Chromosome 22, 17101987: 17101987 |
9 |
IL17RA
|
NM_014339.6(IL17RA): c.1407C> T (p.Cys469=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs41396346
|
GRCh38 |
Chromosome 22, 17108626: 17108626 |
10 |
IL17RA
|
NM_014339.6(IL17RA): c.1407C> T (p.Cys469=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs41396346
|
GRCh37 |
Chromosome 22, 17589516: 17589516 |
11 |
IL17RA
|
NM_014339.6(IL17RA): c.1689C> T (p.Gly563=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146292661
|
GRCh38 |
Chromosome 22, 17108908: 17108908 |
12 |
IL17RA
|
NM_014339.6(IL17RA): c.1689C> T (p.Gly563=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146292661
|
GRCh37 |
Chromosome 22, 17589798: 17589798 |
13 |
IL17RA
|
NM_014339.6(IL17RA): c.2490C> T (p.Pro830=)
|
single nucleotide variant |
Benign/Likely benign |
rs3804060
|
GRCh37 |
Chromosome 22, 17590599: 17590599 |
14 |
IL17RA
|
NM_014339.6(IL17RA): c.2490C> T (p.Pro830=)
|
single nucleotide variant |
Benign/Likely benign |
rs3804060
|
GRCh38 |
Chromosome 22, 17109709: 17109709 |
15 |
IL17RA
|
NM_014339.6(IL17RA): c.152C> T (p.Thr51Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143008696
|
GRCh37 |
Chromosome 22, 17577965: 17577965 |
16 |
IL17RA
|
NM_014339.6(IL17RA): c.152C> T (p.Thr51Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143008696
|
GRCh38 |
Chromosome 22, 17097075: 17097075 |
17 |
IL17RA
|
NM_014339.6(IL17RA): c.1530C> T (p.Asp510=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148319877
|
GRCh38 |
Chromosome 22, 17108749: 17108749 |
18 |
IL17RA
|
NM_014339.6(IL17RA): c.1530C> T (p.Asp510=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148319877
|
GRCh37 |
Chromosome 22, 17589639: 17589639 |
19 |
IL17RA
|
NM_014339.6(IL17RA): c.2177C> T (p.Ser726Leu)
|
single nucleotide variant |
Uncertain significance |
rs756332306
|
GRCh37 |
Chromosome 22, 17590286: 17590286 |
20 |
IL17RA
|
NM_014339.6(IL17RA): c.2177C> T (p.Ser726Leu)
|
single nucleotide variant |
Uncertain significance |
rs756332306
|
GRCh38 |
Chromosome 22, 17109396: 17109396 |
21 |
IL17RA
|
NM_014339.6(IL17RA): c.812G> A (p.Arg271His)
|
single nucleotide variant |
Uncertain significance |
rs775839180
|
GRCh37 |
Chromosome 22, 17584433: 17584433 |
22 |
IL17RA
|
NM_014339.6(IL17RA): c.812G> A (p.Arg271His)
|
single nucleotide variant |
Uncertain significance |
rs775839180
|
GRCh38 |
Chromosome 22, 17103543: 17103543 |
23 |
IL17RA
|
NM_014339.6(IL17RA): c.958T> C (p.Trp320Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140221307
|
GRCh38 |
Chromosome 22, 17105867: 17105867 |
24 |
IL17RA
|
NM_014339.6(IL17RA): c.958T> C (p.Trp320Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140221307
|
GRCh37 |
Chromosome 22, 17586757: 17586757 |
25 |
IL17RA
|
NM_014339.6(IL17RA): c.1400T> C (p.Leu467Pro)
|
single nucleotide variant |
Uncertain significance |
rs369912474
|
GRCh38 |
Chromosome 22, 17108619: 17108619 |
26 |
IL17RA
|
NM_014339.6(IL17RA): c.1400T> C (p.Leu467Pro)
|
single nucleotide variant |
Uncertain significance |
rs369912474
|
GRCh37 |
Chromosome 22, 17589509: 17589509 |
27 |
IL17RA
|
NM_014339.6(IL17RA): c.676G> C (p.Glu226Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144085995
|
GRCh37 |
Chromosome 22, 17583106: 17583106 |
28 |
IL17RA
|
NM_014339.6(IL17RA): c.676G> C (p.Glu226Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144085995
|
GRCh38 |
Chromosome 22, 17102216: 17102216 |
29 |
IL17RA
|
NM_014339.6(IL17RA): c.932-10C> T
|
single nucleotide variant |
Benign |
rs2241046
|
GRCh38 |
Chromosome 22, 17105581: 17105581 |
30 |
IL17RA
|
NM_014339.6(IL17RA): c.932-10C> T
|
single nucleotide variant |
Benign |
rs2241046
|
GRCh37 |
Chromosome 22, 17586471: 17586471 |
31 |
IL17RA
|
NM_014339.6(IL17RA): c.942G> A (p.Pro314=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs41321447
|
GRCh38 |
Chromosome 22, 17105601: 17105601 |
32 |
IL17RA
|
NM_014339.6(IL17RA): c.942G> A (p.Pro314=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs41321447
|
GRCh37 |
Chromosome 22, 17586491: 17586491 |
33 |
IL17RA
|
NM_014339.6(IL17RA): c.2295G> A (p.Gln765=)
|
single nucleotide variant |
Benign/Likely benign |
rs41482444
|
GRCh37 |
Chromosome 22, 17590404: 17590404 |
34 |
IL17RA
|
NM_014339.6(IL17RA): c.2295G> A (p.Gln765=)
|
single nucleotide variant |
Benign/Likely benign |
rs41482444
|
GRCh38 |
Chromosome 22, 17109514: 17109514 |
35 |
IL17RA
|
NM_014339.6(IL17RA): c.1302_1318dup17 (p.Asn440Argfs)
|
duplication |
Pathogenic |
rs1057518744
|
GRCh37 |
Chromosome 22, 17589411: 17589427 |
36 |
IL17RA
|
NM_014339.6(IL17RA): c.1302_1318dup17 (p.Asn440Argfs)
|
duplication |
Pathogenic |
rs1057518744
|
GRCh38 |
Chromosome 22, 17108521: 17108537 |
37 |
IL17RA
|
NM_014339.6(IL17RA): c.1159G> A (p.Asp387Asn)
|
single nucleotide variant |
Pathogenic |
rs1057519079
|
GRCh38 |
Chromosome 22, 17108378: 17108378 |
38 |
IL17RA
|
NM_014339.6(IL17RA): c.1159G> A (p.Asp387Asn)
|
single nucleotide variant |
Pathogenic |
rs1057519079
|
GRCh37 |
Chromosome 22, 17589268: 17589268 |
39 |
IL17RA
|
NM_014339.6(IL17RA): c.196C> T (p.Arg66Ter)
|
single nucleotide variant |
Pathogenic |
rs1057518745
|
GRCh37 |
Chromosome 22, 17578719: 17578719 |
40 |
IL17RA
|
NM_014339.6(IL17RA): c.196C> T (p.Arg66Ter)
|
single nucleotide variant |
Pathogenic |
rs1057518745
|
GRCh38 |
Chromosome 22, 17097829: 17097829 |
41 |
IL17RA
|
NM_014339.6(IL17RA): c.268delC (p.Leu90Cysfs)
|
deletion |
Pathogenic |
rs1057518746
|
GRCh37 |
Chromosome 22, 17578791: 17578791 |
42 |
IL17RA
|
NM_014339.6(IL17RA): c.268delC (p.Leu90Cysfs)
|
deletion |
Pathogenic |
rs1057518746
|
GRCh38 |
Chromosome 22, 17097901: 17097901 |
43 |
IL17RA
|
NM_014339.6(IL17RA): c.769_773delCCAGA (p.Pro257Argfs)
|
deletion |
Pathogenic |
rs1057518747
|
GRCh38 |
Chromosome 22, 17103500: 17103504 |
44 |
IL17RA
|
NM_014339.6(IL17RA): c.769_773delCCAGA (p.Pro257Argfs)
|
deletion |
Pathogenic |
rs1057518747
|
GRCh37 |
Chromosome 22, 17584390: 17584394 |
45 |
IL17RA
|
NM_014339.6(IL17RA): c.832C> T (p.Arg278Cys)
|
single nucleotide variant |
Uncertain significance |
rs767388612
|
GRCh38 |
Chromosome 22, 17103563: 17103563 |
46 |
IL17RA
|
NM_014339.6(IL17RA): c.832C> T (p.Arg278Cys)
|
single nucleotide variant |
Uncertain significance |
rs767388612
|
GRCh37 |
Chromosome 22, 17584453: 17584453 |
47 |
IL17RA
|
NM_014339.6(IL17RA): c.1402C> T (p.Arg468Cys)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 22, 17108621: 17108621 |
48 |
IL17RA
|
NM_014339.6(IL17RA): c.1402C> T (p.Arg468Cys)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 22, 17589511: 17589511 |
49 |
IL17RA
|
NM_014339.6(IL17RA): c.1493C> T (p.Thr498Ile)
|
single nucleotide variant |
Likely benign |
rs41529049
|
GRCh38 |
Chromosome 22, 17108712: 17108712 |
50 |
IL17RA
|
NM_014339.6(IL17RA): c.1493C> T (p.Thr498Ile)
|
single nucleotide variant |
Likely benign |
rs41529049
|
GRCh37 |
Chromosome 22, 17589602: 17589602 |