1 |
CUL3
|
NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)
|
single nucleotide variant |
Pathogenic |
rs199469656
|
GRCh37 |
Chromosome 2, 225368508: 225368508 |
2 |
CUL3
|
NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)
|
single nucleotide variant |
Pathogenic |
rs199469656
|
GRCh38 |
Chromosome 2, 224503791: 224503791 |
3 |
KLHL3
|
NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)
|
single nucleotide variant |
Pathogenic |
rs199469639
|
GRCh37 |
Chromosome 5, 136975605: 136975605 |
4 |
KLHL3
|
NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)
|
single nucleotide variant |
Pathogenic |
rs199469639
|
GRCh38 |
Chromosome 5, 137639916: 137639916 |
5 |
KLHL3
|
NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)
|
single nucleotide variant |
Pathogenic |
rs199469641
|
GRCh37 |
Chromosome 5, 136973075: 136973075 |
6 |
KLHL3
|
NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)
|
single nucleotide variant |
Pathogenic |
rs199469641
|
GRCh38 |
Chromosome 5, 137637386: 137637386 |
7 |
KLHL3
|
NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)
|
single nucleotide variant |
Pathogenic |
rs199469636
|
GRCh37 |
Chromosome 5, 136963994: 136963994 |
8 |
KLHL3
|
NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)
|
single nucleotide variant |
Pathogenic |
rs199469636
|
GRCh38 |
Chromosome 5, 137628305: 137628305 |
9 |
KLHL3
|
NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)
|
single nucleotide variant |
Pathogenic |
rs199469638
|
GRCh37 |
Chromosome 5, 136997639: 136997639 |
10 |
KLHL3
|
NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)
|
single nucleotide variant |
Pathogenic |
rs199469638
|
GRCh38 |
Chromosome 5, 137661950: 137661950 |
11 |
KLHL3
|
NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)
|
single nucleotide variant |
Pathogenic |
rs199469640
|
GRCh37 |
Chromosome 5, 136975563: 136975563 |
12 |
KLHL3
|
NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)
|
single nucleotide variant |
Pathogenic |
rs199469640
|
GRCh38 |
Chromosome 5, 137639874: 137639874 |
13 |
KLHL3
|
NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)
|
single nucleotide variant |
Pathogenic |
rs199469645
|
GRCh37 |
Chromosome 5, 136961507: 136961507 |
14 |
KLHL3
|
NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)
|
single nucleotide variant |
Pathogenic |
rs199469645
|
GRCh38 |
Chromosome 5, 137625818: 137625818 |
15 |
KLHL3
|
NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)
|
single nucleotide variant |
Pathogenic |
rs199469635
|
GRCh37 |
Chromosome 5, 136963995: 136963995 |
16 |
KLHL3
|
NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)
|
single nucleotide variant |
Pathogenic |
rs199469635
|
GRCh38 |
Chromosome 5, 137628306: 137628306 |
17 |
KLHL3
|
NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)
|
single nucleotide variant |
Pathogenic |
rs199469632
|
GRCh37 |
Chromosome 5, 136973006: 136973006 |
18 |
KLHL3
|
NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)
|
single nucleotide variant |
Pathogenic |
rs199469632
|
GRCh38 |
Chromosome 5, 137637317: 137637317 |
19 |
WNK1
|
NM_018979.3(WNK1): c.3516A> G (p.Ile1172Met)
|
single nucleotide variant |
Likely benign |
rs150532648
|
GRCh37 |
Chromosome 12, 992587: 992587 |
20 |
WNK1
|
NM_018979.3(WNK1): c.3516A> G (p.Ile1172Met)
|
single nucleotide variant |
Likely benign |
rs150532648
|
GRCh38 |
Chromosome 12, 883421: 883421 |
21 |
WNK4
|
NM_032387.4(WNK4): c.2476G> A (p.Gly826Ser)
|
single nucleotide variant |
Likely benign |
rs190384194
|
GRCh37 |
Chromosome 17, 40946915: 40946915 |
22 |
WNK4
|
NM_032387.4(WNK4): c.2476G> A (p.Gly826Ser)
|
single nucleotide variant |
Likely benign |
rs190384194
|
GRCh38 |
Chromosome 17, 42794897: 42794897 |
23 |
CUL3
|
NM_003590.4(CUL3): c.1207-12T> G
|
single nucleotide variant |
Pathogenic |
rs199469651
|
GRCh37 |
Chromosome 2, 225368551: 225368551 |
24 |
CUL3
|
NM_003590.4(CUL3): c.1207-12T> G
|
single nucleotide variant |
Pathogenic |
rs199469651
|
GRCh38 |
Chromosome 2, 224503834: 224503834 |
25 |
CUL3
|
NM_003590.4(CUL3): c.1207-1G> A
|
single nucleotide variant |
Pathogenic |
rs199469654
|
GRCh37 |
Chromosome 2, 225368540: 225368540 |
26 |
CUL3
|
NM_003590.4(CUL3): c.1207-1G> A
|
single nucleotide variant |
Pathogenic |
rs199469654
|
GRCh38 |
Chromosome 2, 224503823: 224503823 |
27 |
CUL3
|
NM_003590.4(CUL3): c.1207-26A> G
|
single nucleotide variant |
Pathogenic |
rs199469650
|
GRCh37 |
Chromosome 2, 225368565: 225368565 |
28 |
CUL3
|
NM_003590.4(CUL3): c.1207-26A> G
|
single nucleotide variant |
Pathogenic |
rs199469650
|
GRCh38 |
Chromosome 2, 224503848: 224503848 |
29 |
CUL3
|
NM_003590.4(CUL3): c.1207-28T> G
|
single nucleotide variant |
Pathogenic |
rs199469649
|
GRCh37 |
Chromosome 2, 225368567: 225368567 |
30 |
CUL3
|
NM_003590.4(CUL3): c.1207-28T> G
|
single nucleotide variant |
Pathogenic |
rs199469649
|
GRCh38 |
Chromosome 2, 224503850: 224503850 |
31 |
CUL3
|
NM_003590.4(CUL3): c.1207-3C> T
|
single nucleotide variant |
Pathogenic |
rs199469653
|
GRCh37 |
Chromosome 2, 225368542: 225368542 |
32 |
CUL3
|
NM_003590.4(CUL3): c.1207-3C> T
|
single nucleotide variant |
Pathogenic |
rs199469653
|
GRCh38 |
Chromosome 2, 224503825: 224503825 |
33 |
CUL3
|
NM_003590.4(CUL3): c.1207-5T> A
|
single nucleotide variant |
Pathogenic |
rs199469652
|
GRCh37 |
Chromosome 2, 225368544: 225368544 |
34 |
CUL3
|
NM_003590.4(CUL3): c.1207-5T> A
|
single nucleotide variant |
Pathogenic |
rs199469652
|
GRCh38 |
Chromosome 2, 224503827: 224503827 |
35 |
CUL3
|
NM_003590.4(CUL3): c.1236G> A (p.Leu412=)
|
single nucleotide variant |
Pathogenic |
rs199469655
|
GRCh37 |
Chromosome 2, 225368510: 225368510 |
36 |
CUL3
|
NM_003590.4(CUL3): c.1236G> A (p.Leu412=)
|
single nucleotide variant |
Pathogenic |
rs199469655
|
GRCh38 |
Chromosome 2, 224503793: 224503793 |
37 |
CUL3
|
NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg)
|
single nucleotide variant |
Pathogenic |
rs199469658
|
GRCh37 |
Chromosome 2, 225368370: 225368370 |
38 |
CUL3
|
NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg)
|
single nucleotide variant |
Pathogenic |
rs199469658
|
GRCh38 |
Chromosome 2, 224503653: 224503653 |
39 |
CUL3
|
NM_003590.4(CUL3): c.1376_1377+4delAGGTAA
|
deletion |
Pathogenic |
rs199469657
|
GRCh37 |
Chromosome 2, 225368365: 225368370 |
40 |
CUL3
|
NM_003590.4(CUL3): c.1376_1377+4delAGGTAA
|
deletion |
Pathogenic |
rs199469657
|
GRCh38 |
Chromosome 2, 224503648: 224503653 |
41 |
CUL3
|
NM_003590.4(CUL3): c.1376_1377insG (p.Thr460Aspfs)
|
insertion |
Pathogenic |
rs199469659
|
GRCh37 |
Chromosome 2, 225368369: 225368369 |
42 |
CUL3
|
NM_003590.4(CUL3): c.1376_1377insG (p.Thr460Aspfs)
|
insertion |
Pathogenic |
rs199469659
|
GRCh38 |
Chromosome 2, 224503652: 224503652 |
43 |
CUL3
|
NM_003590.4(CUL3): c.1377+1G> C
|
single nucleotide variant |
Pathogenic |
rs199469660
|
GRCh37 |
Chromosome 2, 225368368: 225368368 |
44 |
CUL3
|
NM_003590.4(CUL3): c.1377+1G> C
|
single nucleotide variant |
Pathogenic |
rs199469660
|
GRCh38 |
Chromosome 2, 224503651: 224503651 |
45 |
CUL3
|
NM_003590.4(CUL3): c.1377+3A> G
|
single nucleotide variant |
Pathogenic |
rs199469661
|
GRCh37 |
Chromosome 2, 225368366: 225368366 |
46 |
CUL3
|
NM_003590.4(CUL3): c.1377+3A> G
|
single nucleotide variant |
Pathogenic |
rs199469661
|
GRCh38 |
Chromosome 2, 224503649: 224503649 |
47 |
KLHL3
|
NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter)
|
single nucleotide variant |
Pathogenic |
rs199469644
|
GRCh37 |
Chromosome 5, 136969766: 136969766 |
48 |
KLHL3
|
NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter)
|
single nucleotide variant |
Pathogenic |
rs199469644
|
GRCh38 |
Chromosome 5, 137634077: 137634077 |
49 |
KLHL3
|
NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs)
|
deletion |
Pathogenic |
rs199469647
|
GRCh37 |
Chromosome 5, 136997636: 136997636 |
50 |
KLHL3
|
NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs)
|
deletion |
Pathogenic |
rs199469647
|
GRCh38 |
Chromosome 5, 137661947: 137661947 |