1 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1785T>G (p.Tyr595Ter) |
SNV |
Pathogenic |
1349 |
rs118203985 |
1:150529450-150529450 |
1:150556974-150556974 |
2 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.79-1G>A |
SNV |
Pathogenic |
39554 |
rs587776927 |
1:150525373-150525373 |
1:150552897-150552897 |
3 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) |
Deletion |
Pathogenic |
39555 |
rs199473693 |
1:150526234-150526253 |
1:150553750-150553769 |
4 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.826_836del (p.Arg276fs) |
Deletion |
Pathogenic |
39556 |
rs794726688 |
1:150526292-150526302 |
1:150553816-150553826 |
5 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter) |
SNV |
Pathogenic |
39557 |
rs368482584 |
1:150529772-150529772 |
1:150557296-150557296 |
6 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.239del (p.Pro80fs) |
Deletion |
Pathogenic |
39558 |
rs794726689 |
1:150525532-150525532 |
1:150553056-150553056 |
7 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter) |
SNV |
Likely pathogenic |
39557 |
rs368482584 |
1:150529772-150529772 |
1:150557296-150557296 |
8 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys) |
SNV |
Uncertain significance |
992534 |
|
1:150530584-150530584 |
1:150558108-150558108 |
9 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu) |
SNV |
Uncertain significance |
292544 |
rs115937511 |
1:150530009-150530009 |
1:150557533-150557533 |
10 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln) |
SNV |
Uncertain significance |
875435 |
|
1:150531917-150531917 |
1:150559441-150559441 |
11 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2944-7G>A |
SNV |
Uncertain significance |
626060 |
rs193025475 |
1:150532230-150532230 |
1:150559754-150559754 |
12 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1676G>A (p.Arg559His) |
SNV |
Uncertain significance |
876367 |
|
1:150529196-150529196 |
1:150556720-150556720 |
13 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1683C>T (p.Pro561=) |
SNV |
Uncertain significance |
876368 |
|
1:150529203-150529203 |
1:150556727-150556727 |
14 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu) |
SNV |
Uncertain significance |
876369 |
|
1:150529656-150529656 |
1:150557180-150557180 |
15 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2457C>T (p.Ser819=) |
SNV |
Uncertain significance |
876406 |
|
1:150531023-150531023 |
1:150558547-150558547 |
16 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2483C>T (p.Pro828Leu) |
SNV |
Uncertain significance |
876407 |
|
1:150531049-150531049 |
1:150558573-150558573 |
17 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2559+8C>T |
SNV |
Uncertain significance |
876408 |
|
1:150531133-150531133 |
1:150558657-150558657 |
18 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.3078C>G (p.Ser1026Arg) |
SNV |
Uncertain significance |
876459 |
|
1:150532371-150532371 |
1:150559895-150559895 |
19 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=) |
SNV |
Uncertain significance |
292537 |
rs749692173 |
1:150529441-150529441 |
1:150556965-150556965 |
20 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*670C>G |
SNV |
Uncertain significance |
292578 |
rs774586242 |
1:150533342-150533342 |
1:150560866-150560866 |
21 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp) |
SNV |
Uncertain significance |
292534 |
rs773512669 |
1:150528800-150528800 |
1:150556324-150556324 |
22 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=) |
SNV |
Uncertain significance |
292520 |
rs199802790 |
1:150525998-150525998 |
1:150553522-150553522 |
23 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=) |
SNV |
Uncertain significance |
292558 |
rs139006349 |
1:150531581-150531581 |
1:150559105-150559105 |
24 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=) |
SNV |
Uncertain significance |
292527 |
rs370107497 |
1:150526499-150526499 |
1:150554023-150554023 |
25 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val) |
SNV |
Uncertain significance |
292561 |
rs587695953 |
1:150531881-150531881 |
1:150559405-150559405 |
26 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala) |
SNV |
Uncertain significance |
292564 |
rs200172019 |
1:150532256-150532256 |
1:150559780-150559780 |
27 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu) |
SNV |
Uncertain significance |
292543 |
rs886045268 |
1:150529749-150529749 |
1:150557273-150557273 |
28 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln) |
SNV |
Uncertain significance |
292522 |
rs145673891 |
1:150526216-150526216 |
1:150553740-150553740 |
29 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2737C>T (p.Arg913Cys) |
SNV |
Uncertain significance |
874505 |
|
1:150531615-150531615 |
1:150559139-150559139 |
30 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met) |
SNV |
Uncertain significance |
874507 |
|
1:150531838-150531838 |
1:150559362-150559362 |
31 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser) |
SNV |
Uncertain significance |
874508 |
|
1:150531847-150531847 |
1:150559371-150559371 |
32 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2849C>T (p.Pro950Leu) |
SNV |
Uncertain significance |
874509 |
|
1:150531848-150531848 |
1:150559372-150559372 |
33 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.-236C>T |
SNV |
Uncertain significance |
875231 |
|
1:150521898-150521898 |
1:150549422-150549422 |
34 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg) |
SNV |
Uncertain significance |
875282 |
|
1:150526851-150526851 |
1:150554375-150554375 |
35 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1160G>A (p.Arg387Gln) |
SNV |
Uncertain significance |
875283 |
|
1:150526869-150526869 |
1:150554393-150554393 |
36 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1186T>C (p.Ser396Pro) |
SNV |
Uncertain significance |
875285 |
|
1:150526895-150526895 |
1:150554419-150554419 |
37 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2157C>T (p.His719=) |
SNV |
Uncertain significance |
875325 |
|
1:150530079-150530079 |
1:150557603-150557603 |
38 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2190C>T (p.Gly730=) |
SNV |
Uncertain significance |
746274 |
rs373005024 |
1:150530433-150530433 |
1:150557957-150557957 |
39 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys) |
SNV |
Uncertain significance |
875326 |
|
1:150530479-150530479 |
1:150558003-150558003 |
40 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp) |
SNV |
Uncertain significance |
875327 |
|
1:150530494-150530494 |
1:150558018-150558018 |
41 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu) |
SNV |
Uncertain significance |
875328 |
|
1:150530522-150530522 |
1:150558046-150558046 |
42 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys) |
SNV |
Uncertain significance |
875375 |
|
1:150530536-150530536 |
1:150558060-150558060 |
43 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2311C>T (p.Arg771Trp) |
SNV |
Uncertain significance |
875376 |
|
1:150530554-150530554 |
1:150558078-150558078 |
44 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2312G>A (p.Arg771Gln) |
SNV |
Uncertain significance |
875377 |
|
1:150530555-150530555 |
1:150558079-150558079 |
45 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln) |
SNV |
Uncertain significance |
875436 |
|
1:150532313-150532313 |
1:150559837-150559837 |
46 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=) |
SNV |
Uncertain significance |
876192 |
|
1:150525457-150525457 |
1:150552981-150552981 |
47 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp) |
SNV |
Uncertain significance |
876193 |
|
1:150525587-150525587 |
1:150553111-150553111 |
48 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=) |
SNV |
Uncertain significance |
876194 |
|
1:150525715-150525715 |
1:150553239-150553239 |
49 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile) |
SNV |
Uncertain significance |
876243 |
|
1:150527971-150527971 |
1:150555495-150555495 |
50 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala) |
SNV |
Uncertain significance |
876244 |
|
1:150528654-150528654 |
1:150556178-150556178 |