1 |
TULP1 |
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) |
SNV |
Pathogenic
|
7357 |
rs121909073 |
GRCh37: 6:35471400-35471400 GRCh38: 6:35503623-35503623 |
2 |
TULP1 |
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) |
SNV |
Pathogenic
|
7359 |
rs121909075 |
GRCh37: 6:35467877-35467877 GRCh38: 6:35500100-35500100 |
3 |
TULP1 |
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) |
SNV |
Pathogenic
|
7362 |
rs121909076 |
GRCh37: 6:35471593-35471593 GRCh38: 6:35503816-35503816 |
4 |
TULP1 |
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) |
DEL |
Pathogenic
|
7364 |
rs1581734819 |
GRCh37: 6:35466212-35466222 GRCh38: 6:35498435-35498445 |
5 |
TULP1 |
NM_003322.6(TULP1):c.718+2T>C |
SNV |
Pathogenic
|
7365 |
rs1581742970 |
GRCh37: 6:35477409-35477409 GRCh38: 6:35509632-35509632 |
6 |
TULP1 |
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter) |
SNV |
Pathogenic
|
1065768 |
|
GRCh37: 6:35479960-35479960 GRCh38: 6:35512183-35512183 |
7 |
TULP1 |
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) |
SNV |
Pathogenic
|
7363 |
rs121909077 |
GRCh37: 6:35467809-35467809 GRCh38: 6:35500032-35500032 |
8 |
TULP1 |
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) |
SNV |
Pathogenic
|
977980 |
rs146311742 |
GRCh37: 6:35467808-35467808 GRCh38: 6:35500031-35500031 |
9 |
TULP1 |
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) |
SNV |
Pathogenic
|
7358 |
rs121909074 |
GRCh37: 6:35467782-35467782 GRCh38: 6:35500005-35500005 |
10 |
TULP1 |
NM_003322.6(TULP1):c.1495+1G>A |
SNV |
Pathogenic
|
99665 |
rs281865168 |
GRCh37: 6:35467757-35467757 GRCh38: 6:35499980-35499980 |
11 |
TULP1 |
NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr) |
SNV |
Pathogenic
|
1184552 |
|
GRCh37: 6:35473564-35473564 GRCh38: 6:35505787-35505787 |
12 |
TULP1 |
NC_000006.11:g.35474055_35474058del |
DEL |
Pathogenic
|
1184553 |
|
GRCh37: 6:35474053-35474056 GRCh38: 6:35506276-35506279 |
13 |
TULP1 |
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) |
SNV |
Pathogenic
|
828151 |
rs201070350 |
GRCh37: 6:35473878-35473878 GRCh38: 6:35506101-35506101 |
14 |
TULP1 |
NM_003322.6(TULP1):c.1496-6C>A |
SNV |
Likely Pathogenic
|
99666 |
rs281865171 |
GRCh37: 6:35466243-35466243 GRCh38: 6:35498466-35498466 |
15 |
TULP1 |
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) |
SNV |
Likely Pathogenic
|
99663 |
rs62636511 |
GRCh37: 6:35467787-35467787 GRCh38: 6:35500010-35500010 |
16 |
TULP1 |
NM_003322.6(TULP1):c.162dup (p.Thr55fs) |
DUP |
Likely Pathogenic
|
1708378 |
|
GRCh37: 6:35479984-35479985 GRCh38: 6:35512207-35512208 |
17 |
TULP1 |
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) |
SNV |
Likely Pathogenic
|
802210 |
rs373519519 |
GRCh37: 6:35473848-35473848 GRCh38: 6:35506071-35506071 |
18 |
TULP1 |
NM_003322.6(TULP1):c.821del (p.Lys274fs) |
DEL |
Likely Pathogenic
|
865921 |
rs774204108 |
GRCh37: 6:35476987-35476987 GRCh38: 6:35509210-35509210 |
19 |
TULP1 |
NM_003322.6(TULP1):c.99+1G>A |
SNV |
Likely Pathogenic
|
99675 |
rs281865166 |
GRCh37: 6:35480415-35480415 GRCh38: 6:35512638-35512638 |
20 |
TULP1 |
NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs) |
DUP |
Likely Pathogenic
|
1065757 |
|
GRCh37: 6:35466176-35466177 GRCh38: 6:35498399-35498400 |
21 |
TULP1 |
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) |
SNV |
Likely Pathogenic
|
1065758 |
|
GRCh37: 6:35473847-35473847 GRCh38: 6:35506070-35506070 |
22 |
TULP1 |
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
143126 |
rs527236117 |
GRCh37: 6:35479425-35479425 GRCh38: 6:35511648-35511648 |
23 |
TULP1 |
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) |
SNV |
Uncertain Significance
|
1042725 |
rs1761067394 |
GRCh37: 6:35473543-35473543 GRCh38: 6:35505766-35505766 |
24 |
PRPF8 |
NM_006445.4(PRPF8):c.5619+2T>C |
SNV |
Uncertain Significance
|
932172 |
rs1911406583 |
GRCh37: 17:1559940-1559940 GRCh38: 17:1656646-1656646 |
25 |
TULP1 |
NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp) |
SNV |
Uncertain Significance
|
1065674 |
|
GRCh37: 6:35473614-35473614 GRCh38: 6:35505837-35505837 |
26 |
TULP1 |
NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln) |
SNV |
Uncertain Significance
|
1339036 |
|
GRCh37: 6:35466121-35466121 GRCh38: 6:35498344-35498344 |
27 |
TULP1 |
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) |
SNV |
Benign
|
94127 |
rs2064318 |
GRCh37: 6:35477025-35477025 GRCh38: 6:35509248-35509248 |
28 |
TULP1 |
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) |
SNV |
Benign
|
99671 |
rs2064317 |
GRCh37: 6:35477032-35477032 GRCh38: 6:35509255-35509255 |
29 |
TULP1 |
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) |
SNV |
Benign
|
286865 |
rs7764472 |
GRCh37: 6:35479574-35479574 GRCh38: 6:35511797-35511797 |
30 |
TULP1 |
NM_003322.6(TULP1):c.823-17G>C |
SNV |
Benign
|
1170073 |
|
GRCh37: 6:35474073-35474073 GRCh38: 6:35506296-35506296 |
31 |
TULP1 |
NM_003322.6(TULP1):c.499+26C>T |
SNV |
Benign
|
1290548 |
|
GRCh37: 6:35478612-35478612 GRCh38: 6:35510835-35510835 |