1 |
WASHC5
|
NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe)
|
single nucleotide variant |
Pathogenic |
rs80338867
|
GRCh37 |
Chromosome 8, 126069059: 126069059 |
2 |
WASHC5
|
NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe)
|
single nucleotide variant |
Pathogenic |
rs80338867
|
GRCh38 |
Chromosome 8, 125056817: 125056817 |
3 |
WASHC5
|
NM_014846.3(WASHC5): c.1857G> C (p.Leu619Phe)
|
single nucleotide variant |
Pathogenic |
rs80338866
|
GRCh37 |
Chromosome 8, 126069816: 126069816 |
4 |
WASHC5
|
NM_014846.3(WASHC5): c.1857G> C (p.Leu619Phe)
|
single nucleotide variant |
Pathogenic |
rs80338866
|
GRCh38 |
Chromosome 8, 125057574: 125057574 |
5 |
WASHC5
|
NM_014846.3(WASHC5): c.1411A> G (p.Asn471Asp)
|
single nucleotide variant |
Pathogenic |
rs80338865
|
GRCh37 |
Chromosome 8, 126073434: 126073434 |
6 |
WASHC5
|
NM_014846.3(WASHC5): c.1411A> G (p.Asn471Asp)
|
single nucleotide variant |
Pathogenic |
rs80338865
|
GRCh38 |
Chromosome 8, 125061192: 125061192 |
7 |
WASHC5
|
NM_014846.3(WASHC5): c.1857G> T (p.Leu619Phe)
|
single nucleotide variant |
Pathogenic |
rs80338866
|
GRCh37 |
Chromosome 8, 126069816: 126069816 |
8 |
WASHC5
|
NM_014846.3(WASHC5): c.1857G> T (p.Leu619Phe)
|
single nucleotide variant |
Pathogenic |
rs80338866
|
GRCh38 |
Chromosome 8, 125057574: 125057574 |
9 |
WASHC5
|
NM_014846.3(WASHC5): c.2087G> C (p.Gly696Ala)
|
single nucleotide variant |
Pathogenic |
rs397515564
|
GRCh37 |
Chromosome 8, 126067843: 126067843 |
10 |
WASHC5
|
NM_014846.3(WASHC5): c.2087G> C (p.Gly696Ala)
|
single nucleotide variant |
Pathogenic |
rs397515564
|
GRCh38 |
Chromosome 8, 125055601: 125055601 |
11 |
WASHC5
|
NM_014846.3(WASHC5): c.3291G> A (p.Ala1097=)
|
single nucleotide variant |
Benign |
rs11542889
|
GRCh37 |
Chromosome 8, 126044527: 126044527 |
12 |
WASHC5
|
NM_014846.3(WASHC5): c.3291G> A (p.Ala1097=)
|
single nucleotide variant |
Benign |
rs11542889
|
GRCh38 |
Chromosome 8, 125032285: 125032285 |
13 |
WASHC5
|
NM_014846.3(WASHC5): c.597A> G (p.Pro199=)
|
single nucleotide variant |
Benign |
rs7812319
|
GRCh37 |
Chromosome 8, 126091094: 126091094 |
14 |
WASHC5
|
NM_014846.3(WASHC5): c.597A> G (p.Pro199=)
|
single nucleotide variant |
Benign |
rs7812319
|
GRCh38 |
Chromosome 8, 125078852: 125078852 |
15 |
WASHC5
|
NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met)
|
single nucleotide variant |
Benign/Likely benign |
rs138407503
|
GRCh37 |
Chromosome 8, 126044499: 126044499 |
16 |
WASHC5
|
NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met)
|
single nucleotide variant |
Benign/Likely benign |
rs138407503
|
GRCh38 |
Chromosome 8, 125032257: 125032257 |
17 |
WASHC5
|
NM_014846.3(WASHC5): c.867A> C (p.Val289=)
|
single nucleotide variant |
Benign |
rs79464415
|
GRCh38 |
Chromosome 8, 125075109: 125075109 |
18 |
WASHC5
|
NM_014846.3(WASHC5): c.867A> C (p.Val289=)
|
single nucleotide variant |
Benign |
rs79464415
|
GRCh37 |
Chromosome 8, 126087351: 126087351 |
19 |
WASHC5
|
NM_014846.3(WASHC5): c.1408+7A> G
|
single nucleotide variant |
Benign/Likely benign |
rs16900312
|
GRCh37 |
Chromosome 8, 126075757: 126075757 |
20 |
WASHC5
|
NM_014846.3(WASHC5): c.1408+7A> G
|
single nucleotide variant |
Benign/Likely benign |
rs16900312
|
GRCh38 |
Chromosome 8, 125063515: 125063515 |
21 |
WASHC5
|
NM_014846.3(WASHC5): c.1245A> G (p.Leu415=)
|
single nucleotide variant |
Benign/Likely benign |
rs10429323
|
GRCh37 |
Chromosome 8, 126079867: 126079867 |
22 |
WASHC5
|
NM_014846.3(WASHC5): c.1245A> G (p.Leu415=)
|
single nucleotide variant |
Benign/Likely benign |
rs10429323
|
GRCh38 |
Chromosome 8, 125067625: 125067625 |
23 |
WASHC5
|
NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=)
|
single nucleotide variant |
Benign/Likely benign |
rs34569226
|
GRCh37 |
Chromosome 8, 126044593: 126044593 |
24 |
WASHC5
|
NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=)
|
single nucleotide variant |
Benign/Likely benign |
rs34569226
|
GRCh38 |
Chromosome 8, 125032351: 125032351 |
25 |
WASHC5
|
NM_014846.3(WASHC5): c.1151-8G> A
|
single nucleotide variant |
Benign/Likely benign |
rs16900335
|
GRCh37 |
Chromosome 8, 126079969: 126079969 |
26 |
WASHC5
|
NM_014846.3(WASHC5): c.1151-8G> A
|
single nucleotide variant |
Benign/Likely benign |
rs16900335
|
GRCh38 |
Chromosome 8, 125067727: 125067727 |
27 |
WASHC5
|
NM_014846.3(WASHC5): c.187-3C> T
|
single nucleotide variant |
Benign |
rs16900368
|
GRCh38 |
Chromosome 8, 125083261: 125083261 |
28 |
WASHC5
|
NM_014846.3(WASHC5): c.187-3C> T
|
single nucleotide variant |
Benign |
rs16900368
|
GRCh37 |
Chromosome 8, 126095503: 126095503 |
29 |
WASHC5
|
NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val)
|
single nucleotide variant |
Uncertain significance |
rs144507279
|
GRCh37 |
Chromosome 8, 126059531: 126059531 |
30 |
WASHC5
|
NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val)
|
single nucleotide variant |
Uncertain significance |
rs144507279
|
GRCh38 |
Chromosome 8, 125047289: 125047289 |
31 |
WASHC5
|
NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72720524
|
GRCh38 |
Chromosome 8, 125078802: 125078802 |
32 |
WASHC5
|
NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72720524
|
GRCh37 |
Chromosome 8, 126091044: 126091044 |
33 |
WASHC5
|
NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 8, 126051185: 126051185 |
34 |
WASHC5
|
NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 8, 125038943: 125038943 |
35 |
WASHC5
|
NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=)
|
single nucleotide variant |
Likely benign |
rs200733182
|
GRCh38 |
Chromosome 8, 125032366: 125032366 |
36 |
WASHC5
|
NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=)
|
single nucleotide variant |
Likely benign |
rs200733182
|
GRCh37 |
Chromosome 8, 126044608: 126044608 |
37 |
WASHC5
|
NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 8, 125057660: 125057660 |
38 |
WASHC5
|
NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 8, 126069902: 126069902 |
39 |
WASHC5
|
NM_014846.3(WASHC5): c.1668C> T (p.Phe556=)
|
single nucleotide variant |
Likely benign |
rs199725572
|
GRCh38 |
Chromosome 8, 125059396: 125059396 |
40 |
WASHC5
|
NM_014846.3(WASHC5): c.1668C> T (p.Phe556=)
|
single nucleotide variant |
Likely benign |
rs199725572
|
GRCh37 |
Chromosome 8, 126071638: 126071638 |
41 |
WASHC5
|
NM_014846.3(WASHC5): c.2016+10C> G
|
single nucleotide variant |
Likely benign |
|
GRCh37 |
Chromosome 8, 126068909: 126068909 |
42 |
WASHC5
|
NM_014846.3(WASHC5): c.2016+10C> G
|
single nucleotide variant |
Likely benign |
|
GRCh38 |
Chromosome 8, 125056667: 125056667 |
43 |
WASHC5
|
NM_014846.3(WASHC5): c.885G> A (p.Gly295=)
|
single nucleotide variant |
Likely benign |
|
GRCh37 |
Chromosome 8, 126087333: 126087333 |
44 |
WASHC5
|
NM_014846.3(WASHC5): c.885G> A (p.Gly295=)
|
single nucleotide variant |
Likely benign |
|
GRCh38 |
Chromosome 8, 125075091: 125075091 |
45 |
WASHC5
|
NM_014846.3(WASHC5): c.1772C> T (p.Ser591Phe)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 8, 125057659: 125057659 |
46 |
WASHC5
|
NM_014846.3(WASHC5): c.1772C> T (p.Ser591Phe)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 8, 126069901: 126069901 |
47 |
WASHC5
|
NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del)
|
deletion |
Uncertain significance |
|
GRCh38 |
Chromosome 8, 125055593: 125055595 |
48 |
WASHC5
|
NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del)
|
deletion |
Uncertain significance |
|
GRCh37 |
Chromosome 8, 126067835: 126067837 |
49 |
WASHC5
|
NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn)
|
single nucleotide variant |
Uncertain significance |
rs758919422
|
GRCh38 |
Chromosome 8, 125056751: 125056751 |
50 |
WASHC5
|
NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn)
|
single nucleotide variant |
Uncertain significance |
rs758919422
|
GRCh37 |
Chromosome 8, 126068993: 126068993 |