1 |
TULP1 |
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) |
SNV |
Pathogenic
|
30260 |
rs387906835 |
GRCh37: 6:35471534-35471534 GRCh38: 6:35503757-35503757 |
2 |
TULP1 |
NM_003322.6(TULP1):c.794del (p.Lys265fs) |
DEL |
Pathogenic
|
829968 |
rs1581742615 |
GRCh37: 6:35477014-35477014 GRCh38: 6:35509237-35509237 |
3 |
TULP1 |
NM_003322.6(TULP1):c.1112+2T>G |
SNV |
Pathogenic
|
931832 |
rs1761066725 |
GRCh37: 6:35473516-35473516 GRCh38: 6:35505739-35505739 |
4 |
TULP1 |
NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter) |
SNV |
Pathogenic
|
450005 |
rs767030473 |
GRCh37: 6:35473606-35473606 GRCh38: 6:35505829-35505829 |
5 |
TULP1 |
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) |
SNV |
Pathogenic
|
1675201 |
|
GRCh37: 6:35477018-35477018 GRCh38: 6:35509241-35509241 |
6 |
TULP1 |
NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla) |
DUP |
Pathogenic
|
30263 |
|
GRCh37: 6:35466145-35466146 GRCh38: 6:35498368-35498369 |
7 |
TULP1 |
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) |
SNV |
Pathogenic
|
30261 |
rs387906836 |
GRCh37: 6:35471540-35471540 GRCh38: 6:35503763-35503763 |
8 |
TULP1 |
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) |
SNV |
Pathogenic
|
30262 |
rs387906837 |
GRCh37: 6:35473528-35473528 GRCh38: 6:35505751-35505751 |
9 |
TULP1 |
NM_003322.6(TULP1):c.100C>T (p.Arg34Ter) |
SNV |
Pathogenic
|
867084 |
rs1331834680 |
GRCh37: 6:35480047-35480047 GRCh38: 6:35512270-35512270 |
10 |
TULP1 |
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) |
SNV |
Pathogenic
|
866967 |
rs751589956 |
GRCh37: 6:35471341-35471341 GRCh38: 6:35503564-35503564 |
11 |
TULP1 |
NM_003322.6(TULP1):c.1495+1G>A |
SNV |
Pathogenic
|
99665 |
rs281865168 |
GRCh37: 6:35467757-35467757 GRCh38: 6:35499980-35499980 |
12 |
TULP1 |
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) |
SNV |
Pathogenic
|
828151 |
rs201070350 |
GRCh37: 6:35473878-35473878 GRCh38: 6:35506101-35506101 |
13 |
TULP1 |
NM_003322.6(TULP1):c.568G>T (p.Glu190Ter) |
SNV |
Pathogenic
|
987369 |
rs1761161294 |
GRCh37: 6:35477637-35477637 GRCh38: 6:35509860-35509860 |
14 |
TULP1 |
NM_003322.6(TULP1):c.1081del (p.Arg361fs) |
DEL |
Pathogenic
|
977976 |
rs1761067640 |
GRCh37: 6:35473549-35473549 GRCh38: 6:35505772-35505772 |
15 |
TULP1 |
NM_003322.6(TULP1):c.148del (p.Glu50fs) |
DEL |
Pathogenic
|
977975 |
rs779910894 |
GRCh37: 6:35479999-35479999 GRCh38: 6:35512222-35512222 |
16 |
TULP1 |
NM_003322.6(TULP1):c.99+1G>A |
SNV |
Pathogenic
|
99675 |
rs281865166 |
GRCh37: 6:35480415-35480415 GRCh38: 6:35512638-35512638 |
17 |
TULP1 |
NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys) |
SNV |
Likely Pathogenic
|
977978 |
rs751036771 |
GRCh37: 6:35466211-35466211 GRCh38: 6:35498434-35498434 |
18 |
TULP1 |
NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys) |
SNV |
Likely Pathogenic
|
977977 |
rs387906835 |
GRCh37: 6:35471534-35471534 GRCh38: 6:35503757-35503757 |
19 |
TULP1 |
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys) |
SNV |
Likely Pathogenic
|
930507 |
rs551519696 |
GRCh37: 6:35471401-35471401 GRCh38: 6:35503624-35503624 |
20 |
TULP1 |
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) |
SNV |
Likely Pathogenic
|
852847 |
rs748972748 |
GRCh37: 6:35471539-35471539 GRCh38: 6:35503762-35503762 |
21 |
TULP1 |
NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu) |
SNV |
Likely Pathogenic
|
977979 |
rs1768748235 |
GRCh37: 6:35466121-35466121 GRCh38: 6:35498344-35498344 |
22 |
TULP1 |
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) |
SNV |
Likely Pathogenic
|
977980 |
rs146311742 |
GRCh37: 6:35467808-35467808 GRCh38: 6:35500031-35500031 |
23 |
TULP1 |
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter) |
SNV |
Likely Pathogenic
|
932141 |
rs1761224205 |
GRCh37: 6:35480008-35480008 GRCh38: 6:35512231-35512231 |
24 |
TULP1 |
NM_003322.6(TULP1):c.999+5G>A |
SNV |
Uncertain Significance
|
1526153 |
|
GRCh37: 6:35473775-35473775 GRCh38: 6:35505998-35505998 |
25 |
TULP1 |
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) |
SNV |
Uncertain Significance
|
356467 |
rs140460892 |
GRCh37: 6:35473904-35473904 GRCh38: 6:35506127-35506127 |
26 |
TULP1 |
NM_003322.6(TULP1):c.901C>G (p.Gln301Glu) |
SNV |
Uncertain Significance
|
904455 |
rs201070350 |
GRCh37: 6:35473878-35473878 GRCh38: 6:35506101-35506101 |
27 |
TULP1 |
NM_003322.6(TULP1):c.823-8G>A |
SNV |
Uncertain Significance
|
356468 |
rs372183095 |
GRCh37: 6:35474064-35474064 GRCh38: 6:35506287-35506287 |
28 |
TULP1 |
NM_003322.6(TULP1):c.499+12G>C |
SNV |
Uncertain Significance
|
356471 |
rs185636479 |
GRCh37: 6:35478626-35478626 GRCh38: 6:35510849-35510849 |
29 |
TULP1 |
NM_003322.6(TULP1):c.846G>A (p.Pro282=) |
SNV |
Uncertain Significance
|
287340 |
rs149980694 |
GRCh37: 6:35473933-35473933 GRCh38: 6:35506156-35506156 |
30 |
TULP1 |
NM_003322.6(TULP1):c.249G>A (p.Ala83=) |
SNV |
Uncertain Significance
|
356474 |
rs377105125 |
GRCh37: 6:35479525-35479525 GRCh38: 6:35511748-35511748 |
31 |
TULP1 |
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) |
SNV |
Uncertain Significance
|
356470 |
rs142641513 |
GRCh37: 6:35477661-35477661 GRCh38: 6:35509884-35509884 |
32 |
TULP1 |
NM_003322.6(TULP1):c.541G>C (p.Val181Leu) |
SNV |
Uncertain Significance
|
904521 |
rs576738703 |
GRCh37: 6:35477664-35477664 GRCh38: 6:35509887-35509887 |
33 |
TULP1 |
NM_003322.6(TULP1):c.*272C>G |
SNV |
Uncertain Significance
|
905194 |
rs1231614922 |
GRCh37: 6:35465832-35465832 GRCh38: 6:35498055-35498055 |
34 |
TULP1 |
NM_003322.6(TULP1):c.224C>T (p.Ser75Phe) |
SNV |
Uncertain Significance
|
905305 |
rs1244588827 |
GRCh37: 6:35479550-35479550 GRCh38: 6:35511773-35511773 |
35 |
TULP1 |
NM_003322.6(TULP1):c.1495+3G>A |
SNV |
Uncertain Significance
|
906795 |
rs758668547 |
GRCh37: 6:35467755-35467755 GRCh38: 6:35499978-35499978 |
36 |
TULP1 |
NM_003322.6(TULP1):c.682G>A (p.Glu228Lys) |
SNV |
Uncertain Significance
|
906837 |
rs1469121973 |
GRCh37: 6:35477447-35477447 GRCh38: 6:35509670-35509670 |
37 |
TULP1 |
NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) |
SNV |
Uncertain Significance
|
196359 |
rs781650198 |
GRCh37: 6:35479963-35479963 GRCh38: 6:35512186-35512186 |
38 |
TULP1 |
NM_003322.6(TULP1):c.1112+8T>C |
SNV |
Uncertain Significance
|
907780 |
rs1286919081 |
GRCh37: 6:35473510-35473510 GRCh38: 6:35505733-35505733 |
39 |
TULP1 |
NM_003322.6(TULP1):c.192T>C (p.Ala64=) |
SNV |
Uncertain Significance
|
356475 |
rs886061337 |
GRCh37: 6:35479582-35479582 GRCh38: 6:35511805-35511805 |
40 |
TULP1 |
NM_003322.6(TULP1):c.*278C>T |
SNV |
Uncertain Significance
|
356462 |
rs886061335 |
GRCh37: 6:35465826-35465826 GRCh38: 6:35498049-35498049 |
41 |
TULP1 |
NM_003322.6(TULP1):c.*305G>A |
SNV |
Uncertain Significance
|
356461 |
rs149035389 |
GRCh37: 6:35465799-35465799 GRCh38: 6:35498022-35498022 |
42 |
TULP1 |
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) |
SNV |
Uncertain Significance
|
356476 |
rs148838796 |
GRCh37: 6:35480430-35480430 GRCh38: 6:35512653-35512653 |
43 |
TULP1 |
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) |
SNV |
Uncertain Significance
|
356477 |
rs886061338 |
GRCh37: 6:35480610-35480610 GRCh38: 6:35512833-35512833 |
44 |
TULP1 |
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) |
SNV |
Uncertain Significance
|
356473 |
rs754040672 |
GRCh37: 6:35479520-35479520 GRCh38: 6:35511743-35511743 |
45 |
TULP1 |
NM_003322.6(TULP1):c.*31C>T |
SNV |
Uncertain Significance
|
356465 |
rs886061336 |
GRCh37: 6:35466073-35466073 GRCh38: 6:35498296-35498296 |
46 |
TULP1 |
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) |
SNV |
Uncertain Significance
|
356469 |
rs748334290 |
GRCh37: 6:35477646-35477646 GRCh38: 6:35509869-35509869 |
47 |
TULP1 |
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) |
SNV |
Uncertain Significance
|
356472 |
rs749882966 |
GRCh37: 6:35478660-35478660 GRCh38: 6:35510883-35510883 |
48 |
TULP1 |
NM_003322.6(TULP1):c.457G>A (p.Ala153Thr) |
SNV |
Uncertain Significance
|
1032121 |
rs145351282 |
GRCh37: 6:35478680-35478680 GRCh38: 6:35510903-35510903 |
49 |
TULP1 |
NM_003322.6(TULP1):c.1569C>T (p.Cys523=) |
SNV |
Uncertain Significance
|
905195 |
rs768536269 |
GRCh37: 6:35466164-35466164 GRCh38: 6:35498387-35498387 |
50 |
TULP1 |
NM_003322.6(TULP1):c.1563G>A (p.Pro521=) |
SNV |
Uncertain Significance
|
906794 |
rs1031077618 |
GRCh37: 6:35466170-35466170 GRCh38: 6:35498393-35498393 |