1 |
POFUT1 |
NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter) |
SNV |
Pathogenic
|
56808 |
rs398123038 |
GRCh37: 20:30804412-30804412 GRCh38: 20:32216609-32216609 |
2 |
POFUT1 |
NM_015352.2(POFUT1):c.482del (p.Lys161fs) |
DEL |
Pathogenic
|
56809 |
rs886041033 |
GRCh37: 20:30804463-30804463 GRCh38: 20:32216660-32216660 |
3 |
POFUT1 |
NM_015352.2(POFUT1):c.889_890del (p.Trp297fs) |
DEL |
Pathogenic
|
1344696 |
|
GRCh37: 20:30818775-30818776 GRCh38: 20:32230972-32230973 |
4 |
POFUT1 |
NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter) |
SNV |
Pathogenic
|
574378 |
rs1569152303 |
GRCh37: 20:30803114-30803114 GRCh38: 20:32215311-32215311 |
5 |
POFUT1 |
NM_015352.2(POFUT1):c.125-15A>G |
SNV |
Uncertain Significance
|
1421678 |
|
GRCh37: 20:30797859-30797859 GRCh38: 20:32210056-32210056 |
6 |
POFUT1 |
NM_015352.2(POFUT1):c.1036C>G (p.Gln346Glu) |
SNV |
Uncertain Significance
|
1492767 |
|
GRCh37: 20:30822333-30822333 GRCh38: 20:32234530-32234530 |
7 |
POFUT1 |
NM_015352.2(POFUT1):c.671C>A (p.Ala224Asp) |
SNV |
Uncertain Significance
|
1461585 |
|
GRCh37: 20:30816194-30816194 GRCh38: 20:32228391-32228391 |
8 |
POFUT1 |
NM_015352.2(POFUT1):c.814C>T (p.Arg272Cys) |
SNV |
Uncertain Significance
|
1370881 |
|
GRCh37: 20:30818700-30818700 GRCh38: 20:32230897-32230897 |
9 |
POFUT1 |
NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu) |
SNV |
Uncertain Significance
|
570946 |
rs368413950 |
GRCh37: 20:30795834-30795834 GRCh38: 20:32208031-32208031 |
10 |
POFUT1 |
NM_015352.2(POFUT1):c.637G>C (p.Val213Leu) |
SNV |
Uncertain Significance
|
940614 |
rs578147902 |
GRCh37: 20:30816160-30816160 GRCh38: 20:32228357-32228357 |
11 |
POFUT1 |
NM_015352.2(POFUT1):c.784A>G (p.Met262Val) |
SNV |
Uncertain Significance
|
1046967 |
rs748328963 |
GRCh37: 20:30818670-30818670 GRCh38: 20:32230867-32230867 |
12 |
POFUT1 |
NM_015352.2(POFUT1):c.416C>T (p.Thr139Met) |
SNV |
Uncertain Significance
|
1058589 |
|
GRCh37: 20:30803241-30803241 GRCh38: 20:32215438-32215438 |
13 |
POFUT1 |
NM_015352.2(POFUT1):c.394C>G (p.Gln132Glu) |
SNV |
Uncertain Significance
|
1716975 |
|
GRCh37: 20:30803219-30803219 GRCh38: 20:32215416-32215416 |
14 |
POFUT1 |
NM_015352.2(POFUT1):c.1155G>A (p.Arg385=) |
SNV |
Likely Benign
|
541310 |
rs780991231 |
GRCh37: 20:30822452-30822452 GRCh38: 20:32234649-32234649 |
15 |
POFUT1 |
NM_015352.2(POFUT1):c.542+19G>A |
SNV |
Likely Benign
|
1568454 |
|
GRCh37: 20:30804543-30804543 GRCh38: 20:32216740-32216740 |
16 |
POFUT1 |
NM_015352.2(POFUT1):c.234T>G (p.Pro78=) |
SNV |
Likely Benign
|
1096718 |
|
GRCh37: 20:30797983-30797983 GRCh38: 20:32210180-32210180 |
17 |
POFUT1 |
NM_015352.2(POFUT1):c.365G>A (p.Arg122Gln) |
SNV |
Likely Benign
|
1125214 |
|
GRCh37: 20:30803190-30803190 GRCh38: 20:32215387-32215387 |
18 |
POFUT1 |
NM_015352.2(POFUT1):c.144C>T (p.Ala48=) |
SNV |
Likely Benign
|
1157507 |
|
GRCh37: 20:30797893-30797893 GRCh38: 20:32210090-32210090 |
19 |
POFUT1 |
NM_015352.2(POFUT1):c.836C>T (p.Thr279Met) |
SNV |
Likely Benign
|
1533470 |
|
GRCh37: 20:30818722-30818722 GRCh38: 20:32230919-32230919 |
20 |
POFUT1 |
NM_015352.2(POFUT1):c.1128C>T (p.Phe376=) |
SNV |
Likely Benign
|
1642667 |
|
GRCh37: 20:30822425-30822425 GRCh38: 20:32234622-32234622 |
21 |
POFUT1 |
NM_015352.2(POFUT1):c.600C>T (p.Pro200=) |
SNV |
Likely Benign
|
1536532 |
|
GRCh37: 20:30816123-30816123 GRCh38: 20:32228320-32228320 |
22 |
POFUT1 |
NM_015352.2(POFUT1):c.1032C>T (p.Leu344=) |
SNV |
Likely Benign
|
1560693 |
|
GRCh37: 20:30822329-30822329 GRCh38: 20:32234526-32234526 |
23 |
POFUT1 |
NM_015352.2(POFUT1):c.736-12C>T |
SNV |
Benign
|
1554589 |
|
GRCh37: 20:30818610-30818610 GRCh38: 20:32230807-32230807 |
24 |
POFUT1 |
NM_015352.2(POFUT1):c.542+10G>T |
SNV |
Benign
|
1543816 |
|
GRCh37: 20:30804534-30804534 GRCh38: 20:32216731-32216731 |
25 |
POFUT1 |
NM_015352.2(POFUT1):c.736-13C>T |
SNV |
Benign
|
1548923 |
|
GRCh37: 20:30818609-30818609 GRCh38: 20:32230806-32230806 |
26 |
POFUT1 |
NM_015352.2(POFUT1):c.735+11C>A |
SNV |
Benign
|
1657624 |
|
GRCh37: 20:30816269-30816269 GRCh38: 20:32228466-32228466 |
27 |
POFUT1 |
NM_015352.2(POFUT1):c.588A>G (p.Pro196=) |
SNV |
Benign
|
474295 |
rs6579005 |
GRCh37: 20:30816111-30816111 GRCh38: 20:32228308-32228308 |
28 |
POFUT1 |
NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe) |
SNV |
Benign
|
474296 |
rs17268666 |
GRCh37: 20:30818850-30818850 GRCh38: 20:32231047-32231047 |
29 |
POFUT1 |
NM_015352.2(POFUT1):c.1042G>A (p.Asp348Asn) |
SNV |
Benign
|
1592932 |
|
GRCh37: 20:30822339-30822339 GRCh38: 20:32234536-32234536 |
30 |
POFUT1 |
NM_015352.2(POFUT1):c.736-11G>A |
SNV |
Benign
|
1601343 |
|
GRCh37: 20:30818611-30818611 GRCh38: 20:32230808-32230808 |
31 |
POFUT1 |
NM_015352.2(POFUT1):c.542+15T>C |
SNV |
Benign
|
1647753 |
|
GRCh37: 20:30804539-30804539 GRCh38: 20:32216736-32216736 |
32 |
POFUT1 |
NM_015352.2(POFUT1):c.542+11G>T |
SNV |
Benign
|
445499 |
rs139014980 |
GRCh37: 20:30804535-30804535 GRCh38: 20:32216732-32216732 |
33 |
POFUT1 |
NM_015352.2(POFUT1):c.741C>T (p.Asn247=) |
SNV |
Benign
|
1165427 |
|
GRCh37: 20:30818627-30818627 GRCh38: 20:32230824-32230824 |
34 |
POFUT1 |
NM_015352.2(POFUT1):c.75T>C (p.Pro25=) |
SNV |
Benign
|
683580 |
rs1923095 |
GRCh37: 20:30795819-30795819 GRCh38: 20:32208016-32208016 |
35 |
POFUT1 |
NM_015352.2(POFUT1):c.147T>C (p.Asp49=) |
SNV |
Benign
|
760405 |
rs113552438 |
GRCh37: 20:30797896-30797896 GRCh38: 20:32210093-32210093 |
36 |
POFUT1 |
NM_015352.2(POFUT1):c.867G>A (p.Glu289=) |
SNV |
Benign
|
1169451 |
|
GRCh37: 20:30818753-30818753 GRCh38: 20:32230950-32230950 |
37 |
POFUT1 |
NM_015352.2(POFUT1):c.736-5C>T |
SNV |
Benign
|
759691 |
rs550972707 |
GRCh37: 20:30818617-30818617 GRCh38: 20:32230814-32230814 |
38 |
POFUT1 |
NM_015352.2(POFUT1):c.900G>A (p.Ser300=) |
SNV |
Benign
|
710154 |
rs78861748 |
GRCh37: 20:30818786-30818786 GRCh38: 20:32230983-32230983 |
39 |
POFUT1 |
NM_015352.2(POFUT1):c.751A>G (p.Met251Val) |
SNV |
Benign
|
719060 |
rs79984831 |
GRCh37: 20:30818637-30818637 GRCh38: 20:32230834-32230834 |
40 |
POFUT1 |
NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys) |
SNV |
Benign
|
774965 |
rs35968884 |
GRCh37: 20:30818823-30818823 GRCh38: 20:32231020-32231020 |
41 |
POFUT1 |
NM_015352.2(POFUT1):c.1158C>T (p.Asp386=) |
SNV |
Benign
|
778880 |
rs7263390 |
GRCh37: 20:30822455-30822455 GRCh38: 20:32234652-32234652 |
42 |
POFUT1 |
NM_015352.2(POFUT1):c.542+11G>C |
SNV |
Benign
|
1170434 |
|
GRCh37: 20:30804535-30804535 GRCh38: 20:32216732-32216732 |