1 |
PROM1 |
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) |
SNV |
Pathogenic |
5610 |
rs137853006 |
4:16014922-16014922 |
4:16013299-16013299 |
2 |
PROM1 |
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) |
SNV |
Conflicting interpretations of pathogenicity |
95329 |
rs149028760 |
4:15992851-15992851 |
4:15991228-15991228 |
3 |
PROM1 |
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) |
SNV |
Conflicting interpretations of pathogenicity |
194072 |
rs200620291 |
4:16008270-16008270 |
4:16006647-16006647 |
4 |
PROM1 |
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) |
SNV |
Conflicting interpretations of pathogenicity |
287074 |
rs62617075 |
4:15992900-15992900 |
4:15991277-15991277 |
5 |
PROM1 |
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) |
SNV |
Conflicting interpretations of pathogenicity |
289314 |
rs182096110 |
4:16020080-16020080 |
4:16018457-16018457 |
6 |
PROM1 |
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) |
SNV |
Conflicting interpretations of pathogenicity |
289616 |
rs375986111 |
4:15987392-15987392 |
4:15985769-15985769 |
7 |
PROM1 |
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) |
SNV |
Conflicting interpretations of pathogenicity |
167535 |
rs113895168 |
4:16002200-16002200 |
4:16000577-16000577 |
8 |
PROM1 |
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) |
SNV |
Conflicting interpretations of pathogenicity |
191189 |
rs140872693 |
4:16026841-16026841 |
4:16025218-16025218 |
9 |
PROM1 |
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) |
SNV |
Conflicting interpretations of pathogenicity |
347978 |
rs568361529 |
4:15985950-15985950 |
4:15984327-15984327 |
10 |
PROM1 |
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) |
SNV |
Conflicting interpretations of pathogenicity |
348001 |
rs369815021 |
4:16025002-16025002 |
4:16023379-16023379 |
11 |
PROM1 |
NM_006017.3(PROM1):c.*1052G>A |
SNV |
Conflicting interpretations of pathogenicity |
347965 |
rs577484119 |
4:15969964-15969964 |
4:15968341-15968341 |
12 |
PROM1 |
NM_006017.3(PROM1):c.*684C>T |
SNV |
Conflicting interpretations of pathogenicity |
347967 |
rs140362696 |
4:15970332-15970332 |
4:15968709-15968709 |
13 |
PROM1 |
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) |
SNV |
Conflicting interpretations of pathogenicity |
842166 |
|
4:16010721-16010721 |
4:16009098-16009098 |
14 |
PROM1 |
NM_006017.3(PROM1):c.1911+8G>A |
SNV |
Conflicting interpretations of pathogenicity |
636187 |
|
4:15993863-15993863 |
4:15992240-15992240 |
15 |
PROM1 |
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) |
SNV |
Conflicting interpretations of pathogenicity |
684463 |
|
4:15989304-15989304 |
4:15987681-15987681 |
16 |
PROM1 |
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) |
SNV |
Conflicting interpretations of pathogenicity |
787025 |
|
4:15995626-15995626 |
4:15994003-15994003 |
17 |
PROM1 |
NM_006017.3(PROM1):c.714A>G (p.Gly238=) |
SNV |
Conflicting interpretations of pathogenicity |
717840 |
|
4:16025019-16025019 |
4:16023396-16023396 |
18 |
PROM1 |
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) |
SNV |
Conflicting interpretations of pathogenicity |
757831 |
|
4:16010594-16010594 |
4:16008971-16008971 |
19 |
PROM1 |
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) |
SNV |
Conflicting interpretations of pathogenicity |
903034 |
|
4:15982049-15982049 |
4:15980426-15980426 |
20 |
PROM1 |
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) |
SNV |
Conflicting interpretations of pathogenicity |
899856 |
|
4:15995639-15995639 |
4:15994016-15994016 |
21 |
PROM1 |
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) |
SNV |
Conflicting interpretations of pathogenicity |
899857 |
|
4:15995667-15995667 |
4:15994044-15994044 |
22 |
PROM1 |
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) |
SNV |
Conflicting interpretations of pathogenicity |
899918 |
|
4:16002229-16002229 |
4:16000606-16000606 |
23 |
PROM1 |
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) |
SNV |
Conflicting interpretations of pathogenicity |
901090 |
|
4:16008208-16008208 |
4:16006585-16006585 |
24 |
PROM1 |
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) |
SNV |
Conflicting interpretations of pathogenicity |
900895 |
|
4:15989322-15989322 |
4:15987699-15987699 |
25 |
PROM1 |
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) |
SNV |
Conflicting interpretations of pathogenicity |
903654 |
|
4:16010678-16010678 |
4:16009055-16009055 |
26 |
PROM1 |
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) |
SNV |
Conflicting interpretations of pathogenicity |
900247 |
|
4:16077372-16077372 |
4:16075749-16075749 |
27 |
PROM1 |
NM_006017.3(PROM1):c.2582+9A>C |
SNV |
Conflicting interpretations of pathogenicity |
900422 |
|
4:15981009-15981009 |
4:15979386-15979386 |
28 |
PROM1 |
NM_006017.3(PROM1):c.376G>A (p.Val126Met) |
SNV |
Conflicting interpretations of pathogenicity |
901350 |
|
4:16035060-16035060 |
4:16033437-16033437 |
29 |
PROM1 |
NM_006017.3(PROM1):c.1301+11C>A |
SNV |
Conflicting interpretations of pathogenicity |
899993 |
|
4:16010561-16010561 |
4:16008938-16008938 |
30 |
PROM1 |
NM_006017.3(PROM1):c.1301+10T>A |
SNV |
Conflicting interpretations of pathogenicity |
899994 |
|
4:16010562-16010562 |
4:16008939-16008939 |
31 |
PROM1 |
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) |
SNV |
Conflicting interpretations of pathogenicity |
347991 |
rs200520976 |
4:16002206-16002206 |
4:16000583-16000583 |
32 |
PROM1 |
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) |
SNV |
Conflicting interpretations of pathogenicity |
347979 |
rs202029748 |
4:15985975-15985975 |
4:15984352-15984352 |
33 |
PROM1 |
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) |
SNV |
Conflicting interpretations of pathogenicity |
347992 |
rs779072238 |
4:16008238-16008238 |
4:16006615-16006615 |
34 |
PROM1 |
NM_006017.3(PROM1):c.2211+7C>T |
SNV |
Conflicting interpretations of pathogenicity |
347981 |
rs372262346 |
4:15987573-15987573 |
4:15985950-15985950 |
35 |
PROM1 |
NM_006017.3(PROM1):c.1683-3C>T |
SNV |
Conflicting interpretations of pathogenicity |
347987 |
rs143470288 |
4:15995697-15995697 |
4:15994074-15994074 |
36 |
PROM1 |
NM_006017.3(PROM1):c.1579-6T>C |
SNV |
Conflicting interpretations of pathogenicity |
347988 |
rs181261277 |
4:16000117-16000117 |
4:15998494-15998494 |
37 |
PROM1 |
NM_006017.3(PROM1):c.843C>T (p.His281=) |
SNV |
Conflicting interpretations of pathogenicity |
347998 |
rs374394451 |
4:16020105-16020105 |
4:16018482-16018482 |
38 |
PROM1 |
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) |
SNV |
Conflicting interpretations of pathogenicity |
347971 |
rs747844753 |
4:15981022-15981022 |
4:15979399-15979399 |
39 |
PROM1 |
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) |
SNV |
Conflicting interpretations of pathogenicity |
347977 |
rs551849678 |
4:15985895-15985895 |
4:15984272-15984272 |
40 |
PROM1 |
NM_006017.3(PROM1):c.1911+14G>A |
SNV |
Conflicting interpretations of pathogenicity |
347984 |
rs79077926 |
4:15993857-15993857 |
4:15992234-15992234 |
41 |
PROM1 |
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) |
SNV |
Conflicting interpretations of pathogenicity |
347990 |
rs201870277 |
4:16002121-16002121 |
4:16000498-16000498 |
42 |
PROM1 |
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) |
SNV |
Conflicting interpretations of pathogenicity |
348009 |
rs201701647 |
4:16077349-16077349 |
4:16075726-16075726 |
43 |
PROM1 |
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) |
SNV |
Conflicting interpretations of pathogenicity |
347997 |
rs202041422 |
4:16019985-16019985 |
4:16018362-16018362 |
44 |
PROM1 |
NM_006017.3(PROM1):c.717C>T (p.Gly239=) |
SNV |
Conflicting interpretations of pathogenicity |
348003 |
rs763697898 |
4:16025016-16025016 |
4:16023393-16023393 |
45 |
PROM1 |
NM_006017.3(PROM1):c.678G>A (p.Ala226=) |
SNV |
Conflicting interpretations of pathogenicity |
348004 |
rs187116049 |
4:16025934-16025934 |
4:16024311-16024311 |
46 |
PROM1 |
NM_006017.3(PROM1):c.276+15G>T |
SNV |
Conflicting interpretations of pathogenicity |
348008 |
rs766012920 |
4:16040554-16040554 |
4:16038931-16038931 |
47 |
PROM1 |
NM_006017.3(PROM1):c.-25T>A |
SNV |
Conflicting interpretations of pathogenicity |
348012 |
rs149845694 |
4:16077554-16077554 |
4:16075931-16075931 |
48 |
PROM1 |
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) |
SNV |
Conflicting interpretations of pathogenicity |
391392 |
rs140682455 |
4:16010674-16010674 |
4:16009051-16009051 |
49 |
PROM1 |
NM_006017.3(PROM1):c.-127A>G |
SNV |
Uncertain significance |
348014 |
rs886059206 |
4:16077656-16077656 |
4:16076033-16076033 |
50 |
PROM1 |
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) |
SNV |
Uncertain significance |
348006 |
rs369512467 |
4:16026889-16026889 |
4:16025266-16025266 |