1 |
DUSP29 |
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) |
Duplication |
Pathogenic |
30525 |
rs199470479 |
10:76788986-76788987 |
10:75029228-75029229 |
2 |
DUSP29 |
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) |
Duplication |
Pathogenic |
30526 |
rs199470483 |
10:76789950-76789951 |
10:75030192-75030193 |
3 |
KAT6B |
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) |
Deletion |
Pathogenic |
30527 |
rs199470468 |
10:76781038-76781038 |
10:75021280-75021280 |
4 |
DUSP29 |
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) |
SNV |
Pathogenic |
30528 |
rs199470476 |
10:76788651-76788651 |
10:75028893-75028893 |
5 |
DUSP29 |
NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) |
Microsatellite |
Pathogenic |
39001 |
rs199470477 |
10:76788785-76788786 |
10:75029027-75029028 |
6 |
DUSP29 |
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) |
Indel |
Pathogenic |
50356 |
rs387907364 |
10:76789646-76789653 |
10:75029888-75029895 |
7 |
DUSP29 |
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) |
SNV |
Pathogenic |
50357 |
rs199470484 |
10:76789971-76789971 |
10:75030213-75030213 |
8 |
DUSP29 |
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs) |
Duplication |
Pathogenic |
637031 |
rs1589845386 |
10:76789746-76789747 |
10:75029988-75029989 |
9 |
KAT6B |
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) |
Deletion |
Pathogenic |
689768 |
rs1589832003 |
10:76784946-76784949 |
10:75025188-75025191 |
10 |
KAT6B |
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) |
Deletion |
Pathogenic |
807617 |
rs1589824355 |
10:76781658-76781659 |
10:75021900-75021901 |
11 |
KAT6B |
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) |
Duplication |
Pathogenic |
807618 |
rs1589831585 |
10:76784819-76784820 |
10:75025061-75025062 |
12 |
KAT6B |
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) |
SNV |
Pathogenic |
828179 |
rs1589750251 |
10:76741612-76741612 |
10:74981854-74981854 |
13 |
DUSP29 |
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs) |
Indel |
Pathogenic |
830050 |
rs1589842816 |
10:76788880-76788886 |
10:75029122-75029128 |
14 |
DUSP29 |
NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) |
Microsatellite |
Pathogenic |
39001 |
rs199470477 |
10:76788785-76788786 |
10:75029027-75029028 |
15 |
DUSP29 |
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) |
Deletion |
Pathogenic |
488535 |
rs1554845902 |
10:76789164-76789164 |
10:75029406-75029406 |
16 |
KAT6B |
NM_012330.4(KAT6B):c.3664+1G>A |
SNV |
Pathogenic |
369663 |
rs1057516033 |
10:76785008-76785008 |
10:75025250-75025250 |
17 |
KAT6B |
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) |
Deletion |
Pathogenic |
438296 |
rs1554843829 |
10:76781832-76781832 |
10:75022074-75022074 |
18 |
KAT6B |
NM_012330.4(KAT6B):c.3022-1G>A |
SNV |
Pathogenic |
931557 |
|
10:76781638-76781638 |
10:75021880-75021880 |
19 |
KAT6B |
NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) |
SNV |
Pathogenic |
976119 |
|
10:76748839-76748839 |
10:74989081-74989081 |
20 |
KAT6B |
NM_012330.4(KAT6B):c.847-2A>G |
SNV |
Pathogenic |
977071 |
|
10:76729776-76729776 |
10:74970018-74970018 |
21 |
KAT6B |
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) |
SNV |
Pathogenic |
523902 |
rs1554843815 |
10:76781789-76781789 |
10:75022031-75022031 |
22 |
DUSP29 |
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) |
Duplication |
Pathogenic |
39002 |
rs199470482 |
10:76789773-76789774 |
10:75030015-75030016 |
23 |
KAT6B |
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) |
SNV |
Pathogenic |
279815 |
rs886041207 |
10:76781764-76781764 |
10:75022006-75022006 |
24 |
DUSP29 |
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) |
Deletion |
Likely pathogenic |
979052 |
|
10:76788671-76788674 |
10:75028913-75028916 |
25 |
KAT6B |
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) |
SNV |
Likely pathogenic |
559862 |
rs751215527 |
10:76781873-76781873 |
10:75022115-75022115 |
26 |
DUSP29 |
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) |
Duplication |
Likely pathogenic |
559863 |
rs1554845880 |
10:76789134-76789135 |
10:75029376-75029377 |
27 |
DUSP29 |
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs) |
Deletion |
Likely pathogenic |
216946 |
rs863224883 |
10:76788544-76788545 |
10:75028786-75028787 |
28 |
DUSP29 |
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) |
SNV |
Uncertain significance |
592150 |
rs1037774698 |
10:76790257-76790257 |
10:75030499-75030499 |
29 |
KAT6B |
NM_012330.4(KAT6B):c.2116-9A>G |
SNV |
Uncertain significance |
625964 |
rs747646395 |
10:76738973-76738973 |
10:74979215-74979215 |
30 |
DUSP29 |
NM_012330.4(KAT6B):c.4065_4067GGA[4] (p.Glu1368del) |
Microsatellite |
Uncertain significance |
561618 |
rs367634881 |
10:76788645-76788647 |
10:75028887-75028889 |
31 |
DUSP29 |
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) |
SNV |
Uncertain significance |
625965 |
rs745470061 |
10:76790531-76790531 |
10:75030773-75030773 |
32 |
KAT6B |
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) |
Deletion |
Uncertain significance |
260236 |
rs569172957 |
10:76781837-76781848 |
10:75022079-75022090 |
33 |
KAT6B |
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val) |
SNV |
Uncertain significance |
931201 |
|
10:76780549-76780549 |
10:75020791-75020791 |
34 |
KAT6B |
NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp) |
SNV |
Uncertain significance |
931621 |
|
10:76603005-76603005 |
10:74843247-74843247 |
35 |
KAT6B |
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu) |
SNV |
Uncertain significance |
300869 |
rs778899637 |
10:76736022-76736022 |
10:74976264-74976264 |
36 |
DUSP29 |
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser) |
SNV |
Uncertain significance |
988726 |
|
10:76788250-76788250 |
10:75028492-75028492 |
37 |
DUSP29 |
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) |
SNV |
Likely benign |
300887 |
rs542036896 |
10:76788618-76788618 |
10:75028860-75028860 |
38 |
KAT6B |
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) |
SNV |
Benign |
300867 |
rs146395020 |
10:76735758-76735758 |
10:74976000-74976000 |