1 |
P3H1 |
NM_022356.3(P3H1):c.570_571del (p.Gly191fs) |
deletion |
Pathogenic |
522436 |
rs1553143741 |
1:43228041-43228042 |
1:42762370-42762371 |
2 |
P3H1 |
NM_022356.3(P3H1):c.646_650del (p.Tyr216fs) |
deletion |
Pathogenic |
522681 |
rs1553143142 |
1:43225030-43225034 |
1:42759359-42759363 |
3 |
P3H1 |
NM_022356.3(P3H1):c.1222A>T (p.Lys408Ter) |
SNV |
Pathogenic |
566925 |
rs1557569037 |
1:43220837-43220837 |
1:42755166-42755166 |
4 |
P3H1 |
NM_022356.4(P3H1):c.1856del (p.Asn619fs) |
deletion |
Pathogenic |
653499 |
|
1:43213452-43213452 |
1:42747781-42747781 |
5 |
P3H1 |
NM_022356.3(P3H1):c.1060A>T (p.Arg354Ter) |
SNV |
Pathogenic |
655208 |
|
1:43223474-43223474 |
1:42757803-42757803 |
6 |
P3H1 |
NM_022356.3(P3H1):c.1459C>T (p.Gln487Ter) |
SNV |
Pathogenic |
664730 |
|
1:43218222-43218222 |
1:42752551-42752551 |
7 |
P3H1 |
NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter) |
SNV |
Pathogenic |
860818 |
|
1:43220659-43220659 |
1:42754988-42754988 |
8 |
P3H1 |
NM_022356.3(P3H1):c.1080+1G>T |
SNV |
Pathogenic |
1253 |
rs72659351 |
1:43223453-43223453 |
1:42757782-42757782 |
9 |
P3H1 |
NM_022356.3(P3H1):c.1473+1G>T |
SNV |
Pathogenic |
1254 |
rs72659354 |
1:43218207-43218207 |
1:42752536-42752536 |
10 |
P3H1 |
NM_022356.3(P3H1):c.747del (p.Tyr250fs) |
deletion |
Pathogenic |
1255 |
rs72659348 |
1:43224933-43224933 |
1:42759262-42759262 |
11 |
P3H1 |
NM_022356.3(P3H1):c.1656C>A (p.Tyr552Ter) |
SNV |
Pathogenic |
1256 |
rs72659355 |
1:43215921-43215921 |
1:42750250-42750250 |
12 |
P3H1 |
NM_022356.3(P3H1):c.1365_1366delinsC (p.Glu455fs) |
indel |
Pathogenic |
1257 |
rs137853952 |
1:43218315-43218316 |
1:42752644-42752645 |
13 |
P3H1 |
NM_022356.3(P3H1):c.1102C>T (p.Arg368Ter) |
SNV |
Pathogenic |
1258 |
rs118203996 |
1:43221287-43221287 |
1:42755616-42755616 |
14 |
P3H1 |
NM_022356.3(P3H1):c.1346-1G>C |
SNV |
Pathogenic |
284532 |
rs886042897 |
1:43218336-43218336 |
1:42752665-42752665 |
15 |
P3H1 |
NM_022356.3(P3H1):c.2055+18G>A |
SNV |
Likely pathogenic |
1259 |
rs137853890 |
1:43212925-43212925 |
1:42747254-42747254 |
16 |
P3H1 |
NM_022356.3(P3H1):c.232C>T (p.Gln78Ter) |
SNV |
Likely pathogenic |
635408 |
|
1:43232411-43232411 |
1:42766740-42766740 |
17 |
P3H1 |
NM_022356.3(P3H1):c.940+1G>T |
SNV |
Likely pathogenic |
566929 |
rs762525651 |
1:43224522-43224522 |
1:42758851-42758851 |
18 |
P3H1 |
NM_022356.3(P3H1):c.1171-2A>T |
SNV |
Likely pathogenic |
571428 |
rs1013320485 |
1:43220890-43220890 |
1:42755219-42755219 |
19 |
P3H1 |
NM_022356.3(P3H1):c.1620C>T (p.Asn540=) |
SNV |
Conflicting interpretations of pathogenicity |
536816 |
rs140334418 |
1:43215957-43215957 |
1:42750286-42750286 |
20 |
P3H1 |
NM_022356.3(P3H1):c.81G>C (p.Glu27Asp) |
SNV |
Conflicting interpretations of pathogenicity |
536820 |
rs201750444 |
1:43232562-43232562 |
1:42766891-42766891 |
21 |
P3H1 |
NM_022356.3(P3H1):c.1501C>T (p.Arg501Trp) |
SNV |
Conflicting interpretations of pathogenicity |
536818 |
rs115108794 |
1:43218013-43218013 |
1:42752342-42752342 |
22 |
P3H1 |
NM_022356.3(P3H1):c.1930C>A (p.Gln644Lys) |
SNV |
Conflicting interpretations of pathogenicity |
468979 |
rs3738497 |
1:43213068-43213068 |
1:42747397-42747397 |
23 |
P3H1 |
NM_022356.3(P3H1):c.611C>A (p.Pro204His) |
SNV |
Conflicting interpretations of pathogenicity |
468985 |
rs77208721 |
1:43228001-43228001 |
1:42762330-42762330 |
24 |
P3H1 |
NM_022356.3(P3H1):c.327C>T (p.Phe109=) |
SNV |
Conflicting interpretations of pathogenicity |
497260 |
rs370773974 |
1:43232316-43232316 |
1:42766645-42766645 |
25 |
P3H1 |
NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg) |
SNV |
Conflicting interpretations of pathogenicity |
426382 |
rs139259804 |
1:43218010-43218010 |
1:42752339-42752339 |
26 |
P3H1 |
NM_022356.3(P3H1):c.1626G>A (p.Thr542=) |
SNV |
Conflicting interpretations of pathogenicity |
468970 |
rs577059613 |
1:43215951-43215951 |
1:42750280-42750280 |
27 |
P3H1 |
NM_022356.3(P3H1):c.1428C>T (p.Gly476=) |
SNV |
Conflicting interpretations of pathogenicity |
468968 |
rs141786883 |
1:43218253-43218253 |
1:42752582-42752582 |
28 |
P3H1 |
NM_022356.3(P3H1):c.978C>T (p.Thr326=) |
SNV |
Conflicting interpretations of pathogenicity |
468990 |
rs74070022 |
1:43223556-43223556 |
1:42757885-42757885 |
29 |
P3H1 |
NM_022356.3(P3H1):c.1720+4G>A |
SNV |
Conflicting interpretations of pathogenicity |
468972 |
rs371232413 |
1:43215853-43215853 |
1:42750182-42750182 |
30 |
P3H1 |
NM_022356.3(P3H1):c.693G>A (p.Ala231=) |
SNV |
Conflicting interpretations of pathogenicity |
468988 |
rs149113630 |
1:43224987-43224987 |
1:42759316-42759316 |
31 |
P3H1 |
NM_022356.3(P3H1):c.2152C>G (p.Pro718Ala) |
SNV |
Conflicting interpretations of pathogenicity |
194557 |
rs533729683 |
1:43212427-43212427 |
1:42746756-42746756 |
32 |
P3H1 |
NM_022356.3(P3H1):c.1721-4C>T |
SNV |
Conflicting interpretations of pathogenicity |
282080 |
rs200901466 |
1:43213992-43213992 |
1:42748321-42748321 |
33 |
P3H1 |
NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly) |
SNV |
Conflicting interpretations of pathogenicity |
283522 |
rs113593896 |
1:43220563-43220563 |
1:42754892-42754892 |
34 |
P3H1 |
NM_022356.3(P3H1):c.1473+5G>T |
SNV |
Conflicting interpretations of pathogenicity |
387904 |
rs114044880 |
1:43218203-43218203 |
1:42752532-42752532 |
35 |
P3H1 |
NM_022356.3(P3H1):c.1233G>A (p.Arg411=) |
SNV |
Conflicting interpretations of pathogenicity |
379643 |
rs61746653 |
1:43220652-43220652 |
1:42754981-42754981 |
36 |
P3H1 |
NM_022356.3(P3H1):c.1026C>T (p.Ala342=) |
SNV |
Conflicting interpretations of pathogenicity |
379768 |
rs61100157 |
1:43223508-43223508 |
1:42757837-42757837 |
37 |
P3H1 |
NM_022356.3(P3H1):c.139G>T (p.Ala47Ser) |
SNV |
Conflicting interpretations of pathogenicity |
379443 |
rs55716016 |
1:43232504-43232504 |
1:42766833-42766833 |
38 |
P3H1 |
NM_022356.3(P3H1):c.1812C>T (p.Pro604=) |
SNV |
Conflicting interpretations of pathogenicity |
379771 |
rs34809608 |
1:43213897-43213897 |
1:42748226-42748226 |
39 |
P3H1 |
NM_022356.3(P3H1):c.1569+3A>G |
SNV |
Conflicting interpretations of pathogenicity |
379770 |
rs76871760 |
1:43217942-43217942 |
1:42752271-42752271 |
40 |
P3H1 |
NM_022356.3(P3H1):c.1045G>A (p.Gly349Arg) |
SNV |
Conflicting interpretations of pathogenicity |
379444 |
rs6700677 |
1:43223489-43223489 |
1:42757818-42757818 |
41 |
P3H1 |
NM_022356.3(P3H1):c.1647G>A (p.Met549Ile) |
SNV |
Conflicting interpretations of pathogenicity |
379421 |
rs11581921 |
1:43215930-43215930 |
1:42750259-42750259 |
42 |
P3H1 |
NM_022356.3(P3H1):c.1284C>T (p.Ile428=) |
SNV |
Conflicting interpretations of pathogenicity |
379769 |
rs61746642 |
1:43220601-43220601 |
1:42754930-42754930 |
43 |
P3H1 |
NM_022356.4(P3H1):c.-57G>T |
SNV |
Conflicting interpretations of pathogenicity |
875635 |
|
1:43232699-43232699 |
1:42767028-42767028 |
44 |
P3H1 |
NM_022356.4(P3H1):c.*77C>T |
SNV |
Conflicting interpretations of pathogenicity |
873600 |
|
1:43212291-43212291 |
1:42746620-42746620 |
45 |
P3H1 |
NM_022356.4(P3H1):c.2108T>C (p.Met703Thr) |
SNV |
Uncertain significance |
874596 |
|
1:43212471-43212471 |
1:42746800-42746800 |
46 |
P3H1 |
NM_022356.4(P3H1):c.1944C>T (p.Ala648=) |
SNV |
Uncertain significance |
875524 |
|
1:43213054-43213054 |
1:42747383-42747383 |
47 |
P3H1 |
NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys) |
SNV |
Uncertain significance |
873653 |
|
1:43215938-43215938 |
1:42750267-42750267 |
48 |
P3H1 |
NM_022356.4(P3H1):c.1247G>A (p.Arg416His) |
SNV |
Uncertain significance |
875585 |
|
1:43220638-43220638 |
1:42754967-42754967 |
49 |
P3H1 |
NM_022356.4(P3H1):c.826C>G (p.Leu276Val) |
SNV |
Uncertain significance |
873725 |
|
1:43224637-43224637 |
1:42758966-42758966 |
50 |
P3H1 |
NM_022356.4(P3H1):c.807A>G (p.Thr269=) |
SNV |
Uncertain significance |
873727 |
|
1:43224873-43224873 |
1:42759202-42759202 |