1 |
TJP2 |
NM_004817.4(TJP2):c.143T>C (p.Val48Ala) |
SNV |
Pathogenic |
2907 |
rs121918299 |
9:71831283-71831283 |
9:69216367-69216367 |
2 |
BAAT |
NM_001701.4(BAAT):c.226A>G (p.Met76Val) |
SNV |
Pathogenic |
6720 |
rs28937579 |
9:104133461-104133461 |
9:101371179-101371179 |
3 |
EPHX1 |
EPHX1, -4238T-A |
SNV |
Pathogenic |
16606 |
|
|
|
4 |
EPHX1 |
EPHX1, 2557C-G |
SNV |
Pathogenic |
16607 |
|
|
|
5 |
TJP2 |
NM_004817.4(TJP2):c.1056+2T>C |
SNV |
Likely pathogenic |
489223 |
rs1278244243 |
9:71840325-71840325 |
9:69225409-69225409 |
6 |
TJP2 |
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) |
SNV |
Likely pathogenic |
367235 |
rs376663560 |
9:71867780-71867780 |
9:69252864-69252864 |
7 |
TJP2 |
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) |
SNV |
Likely pathogenic |
165403 |
rs138241615 |
9:71831325-71831325 |
9:69216409-69216409 |
8 |
TJP2 |
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) |
SNV |
Uncertain significance |
178543 |
rs199761505 |
9:71842728-71842728 |
9:69227812-69227812 |
9 |
BAAT |
NM_001701.4(BAAT):c.*95C>T |
SNV |
Uncertain significance |
913862 |
|
9:104124615-104124615 |
9:101362333-101362333 |
10 |
BAAT |
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) |
SNV |
Uncertain significance |
191236 |
rs768526453 |
9:104125206-104125206 |
9:101362924-101362924 |
11 |
EPHX1 |
NM_000120.4(EPHX1):c.823A>G (p.Thr275Ala) |
SNV |
Uncertain significance |
561152 |
rs35073925 |
1:226027630-226027630 |
1:225839929-225839929 |
12 |
BAAT |
NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter) |
SNV |
Uncertain significance |
632531 |
rs371796700 |
9:104124781-104124781 |
9:101362499-101362499 |
13 |
BAAT |
NM_001701.4(BAAT):c.*1139T>G |
SNV |
Uncertain significance |
364260 |
rs188189145 |
9:104123571-104123571 |
9:101361289-101361289 |
14 |
BAAT |
NM_001701.4(BAAT):c.473G>T (p.Gly158Val) |
SNV |
Uncertain significance |
364279 |
rs746409843 |
9:104130598-104130598 |
9:101368316-101368316 |
15 |
BAAT |
NM_001701.4(BAAT):c.264A>G (p.Leu88=) |
SNV |
Uncertain significance |
364281 |
rs886063284 |
9:104133423-104133423 |
9:101371141-101371141 |
16 |
BAAT |
NM_001701.4(BAAT):c.-59-14C>A |
SNV |
Uncertain significance |
364283 |
rs777417694 |
9:104133759-104133759 |
9:101371477-101371477 |
17 |
BAAT |
NM_001701.4(BAAT):c.*1575T>G |
SNV |
Uncertain significance |
364252 |
rs886063281 |
9:104123135-104123135 |
9:101360853-101360853 |
18 |
BAAT |
NM_001701.4(BAAT):c.*1136A>G |
SNV |
Uncertain significance |
364261 |
rs886063282 |
9:104123574-104123574 |
9:101361292-101361292 |
19 |
BAAT |
NM_001701.4(BAAT):c.178C>T (p.Leu60=) |
SNV |
Uncertain significance |
364282 |
rs374248798 |
9:104133509-104133509 |
9:101371227-101371227 |
20 |
BAAT |
NM_001701.4(BAAT):c.*1030T>A |
SNV |
Uncertain significance |
364264 |
rs543786788 |
9:104123680-104123680 |
9:101361398-101361398 |
21 |
BAAT |
NM_001701.4(BAAT):c.-209C>T |
SNV |
Uncertain significance |
364287 |
rs565859257 |
9:104147286-104147286 |
9:101385004-101385004 |
22 |
BAAT |
NM_001701.4(BAAT):c.*199A>T |
SNV |
Uncertain significance |
364273 |
rs151035029 |
9:104124511-104124511 |
9:101362229-101362229 |
23 |
BAAT |
NM_001701.4(BAAT):c.780C>T (p.Thr260=) |
SNV |
Uncertain significance |
364278 |
rs886063283 |
9:104125187-104125187 |
9:101362905-101362905 |
24 |
BAAT |
NM_001701.4(BAAT):c.-208C>T |
SNV |
Uncertain significance |
364286 |
rs886063286 |
9:104147285-104147285 |
9:101385003-101385003 |
25 |
BAAT |
NM_001701.4(BAAT):c.*1890C>A |
SNV |
Uncertain significance |
364247 |
rs886063280 |
9:104122820-104122820 |
9:101360538-101360538 |
26 |
BAAT |
NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn) |
SNV |
Uncertain significance |
364276 |
rs765307307 |
9:104124832-104124832 |
9:101362550-101362550 |
27 |
BAAT |
NM_001701.4(BAAT):c.*1218A>G |
SNV |
Uncertain significance |
364256 |
rs550241219 |
9:104123492-104123492 |
9:101361210-101361210 |
28 |
BAAT |
NM_001701.4(BAAT):c.-183T>A |
SNV |
Uncertain significance |
364285 |
rs886063285 |
9:104147260-104147260 |
9:101384978-101384978 |
29 |
BAAT |
NM_001701.4(BAAT):c.*1864G>T |
SNV |
Uncertain significance |
912310 |
|
9:104122846-104122846 |
9:101360564-101360564 |
30 |
BAAT |
NM_001701.4(BAAT):c.*1828C>T |
SNV |
Uncertain significance |
912311 |
|
9:104122882-104122882 |
9:101360600-101360600 |
31 |
BAAT |
NM_001701.4(BAAT):c.*1712G>C |
SNV |
Uncertain significance |
912312 |
|
9:104122998-104122998 |
9:101360716-101360716 |
32 |
BAAT |
NM_001701.4(BAAT):c.*831A>G |
SNV |
Uncertain significance |
912350 |
|
9:104123879-104123879 |
9:101361597-101361597 |
33 |
BAAT |
NM_001701.4(BAAT):c.*668A>G |
SNV |
Uncertain significance |
912351 |
|
9:104124042-104124042 |
9:101361760-101361760 |
34 |
BAAT |
NM_001701.4(BAAT):c.*660G>T |
SNV |
Uncertain significance |
912352 |
|
9:104124050-104124050 |
9:101361768-101361768 |
35 |
BAAT |
NM_001701.4(BAAT):c.*573G>T |
SNV |
Uncertain significance |
912354 |
|
9:104124137-104124137 |
9:101361855-101361855 |
36 |
BAAT |
NM_001701.4(BAAT):c.390G>T (p.Arg130Ser) |
SNV |
Uncertain significance |
912408 |
|
9:104133297-104133297 |
9:101371015-101371015 |
37 |
BAAT |
NM_001701.4(BAAT):c.147C>T (p.His49=) |
SNV |
Uncertain significance |
912409 |
|
9:104133540-104133540 |
9:101371258-101371258 |
38 |
BAAT |
NM_001701.4(BAAT):c.126C>A (p.Asp42Glu) |
SNV |
Uncertain significance |
912410 |
|
9:104133561-104133561 |
9:101371279-101371279 |
39 |
BAAT |
NM_001701.4(BAAT):c.*1597C>A |
SNV |
Uncertain significance |
913431 |
|
9:104123113-104123113 |
9:101360831-101360831 |
40 |
BAAT |
NM_001701.4(BAAT):c.*1557C>A |
SNV |
Uncertain significance |
913432 |
|
9:104123153-104123153 |
9:101360871-101360871 |
41 |
BAAT |
NM_001701.4(BAAT):c.*1528C>A |
SNV |
Uncertain significance |
913433 |
|
9:104123182-104123182 |
9:101360900-101360900 |
42 |
BAAT |
NM_001701.4(BAAT):c.*1422A>G |
SNV |
Uncertain significance |
913434 |
|
9:104123288-104123288 |
9:101361006-101361006 |
43 |
BAAT |
NM_001701.4(BAAT):c.*538T>C |
SNV |
Uncertain significance |
913483 |
|
9:104124172-104124172 |
9:101361890-101361890 |
44 |
BAAT |
NM_001701.4(BAAT):c.*426A>G |
SNV |
Uncertain significance |
913484 |
|
9:104124284-104124284 |
9:101362002-101362002 |
45 |
BAAT |
NM_001701.4(BAAT):c.*365T>C |
SNV |
Uncertain significance |
913485 |
|
9:104124345-104124345 |
9:101362063-101362063 |
46 |
BAAT |
NM_001701.4(BAAT):c.*224A>T |
SNV |
Uncertain significance |
913487 |
|
9:104124486-104124486 |
9:101362204-101362204 |
47 |
BAAT |
NM_001701.4(BAAT):c.22C>G (p.Pro8Ala) |
SNV |
Uncertain significance |
913526 |
|
9:104133665-104133665 |
9:101371383-101371383 |
48 |
BAAT |
NM_001701.4(BAAT):c.17C>T (p.Ala6Val) |
SNV |
Uncertain significance |
913527 |
|
9:104133670-104133670 |
9:101371388-101371388 |
49 |
BAAT |
NM_001701.4(BAAT):c.-92C>T |
SNV |
Uncertain significance |
913528 |
|
9:104147169-104147169 |
9:101384887-101384887 |
50 |
BAAT |
NM_001701.4(BAAT):c.-176C>T |
SNV |
Uncertain significance |
913529 |
|
9:104147253-104147253 |
9:101384971-101384971 |