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.2560-4G>A |
SNV |
Conflicting interpretations of pathogenicity |
626059 |
rs374389962 |
1:150531434-150531434 |
1:150558958-150558958 |
8 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2944-7G>A |
SNV |
Conflicting interpretations of pathogenicity |
626060 |
rs193025475 |
1:150532230-150532230 |
1:150559754-150559754 |
9 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2040C>T (p.Cys680=) |
SNV |
Conflicting interpretations of pathogenicity |
724482 |
|
1:150529804-150529804 |
1:150557328-150557328 |
10 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2190C>T (p.Gly730=) |
SNV |
Conflicting interpretations of pathogenicity |
746274 |
|
1:150530433-150530433 |
1:150557957-150557957 |
11 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=) |
SNV |
Conflicting interpretations of pathogenicity |
292527 |
rs370107497 |
1:150526499-150526499 |
1:150554023-150554023 |
12 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln) |
SNV |
Conflicting interpretations of pathogenicity |
292522 |
rs145673891 |
1:150526216-150526216 |
1:150553740-150553740 |
13 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2883C>G (p.Ala961=) |
SNV |
Conflicting interpretations of pathogenicity |
292562 |
rs148110558 |
1:150531882-150531882 |
1:150559406-150559406 |
14 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*333G>A |
SNV |
Uncertain significance |
292573 |
rs587633776 |
1:150533005-150533005 |
1:150560529-150560529 |
15 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*640C>A |
SNV |
Uncertain significance |
292577 |
rs776897541 |
1:150533312-150533312 |
1:150560836-150560836 |
16 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*670C>G |
SNV |
Uncertain significance |
292578 |
rs774586242 |
1:150533342-150533342 |
1:150560866-150560866 |
17 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1009G>A (p.Ala337Thr) |
SNV |
Uncertain significance |
292526 |
rs374008923 |
1:150526476-150526476 |
1:150554000-150554000 |
18 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=) |
SNV |
Uncertain significance |
292520 |
rs199802790 |
1:150525998-150525998 |
1:150553522-150553522 |
19 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2795G>A (p.Arg932His) |
SNV |
Uncertain significance |
292559 |
rs202037366 |
1:150531794-150531794 |
1:150559318-150559318 |
20 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1118C>A (p.Ala373Asp) |
SNV |
Uncertain significance |
292528 |
rs749157895 |
1:150526585-150526585 |
1:150554109-150554109 |
21 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1131+15G>A |
SNV |
Uncertain significance |
292530 |
rs772312644 |
1:150526613-150526613 |
1:150554137-150554137 |
22 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1464G>A (p.Ser488=) |
SNV |
Uncertain significance |
292533 |
rs587675749 |
1:150528730-150528730 |
1:150556254-150556254 |
23 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp) |
SNV |
Uncertain significance |
292534 |
rs773512669 |
1:150528800-150528800 |
1:150556324-150556324 |
24 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=) |
SNV |
Uncertain significance |
292537 |
rs749692173 |
1:150529441-150529441 |
1:150556965-150556965 |
25 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1777G>A (p.Val593Ile) |
SNV |
Uncertain significance |
292538 |
rs757656099 |
1:150529442-150529442 |
1:150556966-150556966 |
26 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1862-11C>T |
SNV |
Uncertain significance |
292541 |
rs201593004 |
1:150529615-150529615 |
1:150557139-150557139 |
27 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1555C>T (p.Arg519Trp) |
SNV |
Uncertain significance |
292535 |
rs369892162 |
1:150528821-150528821 |
1:150556345-150556345 |
28 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu) |
SNV |
Uncertain significance |
292543 |
rs886045268 |
1:150529749-150529749 |
1:150557273-150557273 |
29 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala) |
SNV |
Uncertain significance |
292564 |
rs200172019 |
1:150532256-150532256 |
1:150559780-150559780 |
30 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*276G>A |
SNV |
Uncertain significance |
292570 |
rs181259344 |
1:150532948-150532948 |
1:150560472-150560472 |
31 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*332A>G |
SNV |
Uncertain significance |
292572 |
rs886045270 |
1:150533004-150533004 |
1:150560528-150560528 |
32 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*674C>T |
SNV |
Uncertain significance |
292579 |
rs886045272 |
1:150533346-150533346 |
1:150560870-150560870 |
33 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.88G>A (p.Gly30Arg) |
SNV |
Uncertain significance |
292516 |
rs755040821 |
1:150525383-150525383 |
1:150552907-150552907 |
34 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val) |
SNV |
Uncertain significance |
292561 |
rs587695953 |
1:150531881-150531881 |
1:150559405-150559405 |
35 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2559+9G>A |
SNV |
Uncertain significance |
292555 |
rs12049100 |
1:150531134-150531134 |
1:150558658-150558658 |
36 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=) |
SNV |
Uncertain significance |
292558 |
rs139006349 |
1:150531581-150531581 |
1:150559105-150559105 |
37 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2944-8C>T |
SNV |
Uncertain significance |
292563 |
rs372461420 |
1:150532229-150532229 |
1:150559753-150559753 |
38 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.*407C>T |
SNV |
Uncertain significance |
292574 |
rs745843292 |
1:150533079-150533079 |
1:150560603-150560603 |
39 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.1159C>G (p.Arg387Gly) |
SNV |
Uncertain significance |
292531 |
rs763308439 |
1:150526868-150526868 |
1:150554392-150554392 |
40 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2223C>T (p.Pro741=) |
SNV |
Uncertain significance |
292547 |
rs587696191 |
1:150530466-150530466 |
1:150557990-150557990 |
41 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2265G>T (p.Gly755=) |
SNV |
Uncertain significance |
292548 |
rs780658812 |
1:150530508-150530508 |
1:150558032-150558032 |
42 |
ADAMTSL4 |
NM_019032.5(ADAMTSL4):c.2392C>T (p.Arg798Trp) |
SNV |
Uncertain significance |
292552 |
rs763279620 |
1:150530958-150530958 |
1:150558482-150558482 |
43 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.2442T>G (p.Asn814Lys) |
SNV |
Uncertain significance |
827969 |
|
1:150531008-150531008 |
1:150558532-150558532 |
44 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.-236C>T |
SNV |
Uncertain significance |
875231 |
|
1:150521898-150521898 |
1:150549422-150549422 |
45 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=) |
SNV |
Uncertain significance |
876192 |
|
1:150525457-150525457 |
1:150552981-150552981 |
46 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp) |
SNV |
Uncertain significance |
876193 |
|
1:150525587-150525587 |
1:150553111-150553111 |
47 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=) |
SNV |
Uncertain significance |
876194 |
|
1:150525715-150525715 |
1:150553239-150553239 |
48 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.569G>T (p.Gly190Val) |
SNV |
Uncertain significance |
876332 |
|
1:150526036-150526036 |
1:150553560-150553560 |
49 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1000C>G (p.His334Asp) |
SNV |
Uncertain significance |
874362 |
|
1:150526467-150526467 |
1:150553991-150553991 |
50 |
ADAMTSL4 |
NM_019032.6(ADAMTSL4):c.1130C>A (p.Ala377Glu) |
SNV |
Uncertain significance |
874363 |
|
1:150526597-150526597 |
1:150554121-150554121 |