1 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+1G>T |
SNV |
Pathogenic |
156008 |
rs587777709 |
5:67589663-67589663 |
5:68293835-68293835 |
2 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+1G>C |
SNV |
Pathogenic |
156009 |
rs587777709 |
5:67589663-67589663 |
5:68293835-68293835 |
3 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+2T>G |
SNV |
Pathogenic |
446498 |
rs1554051075 |
5:67589664-67589664 |
5:68293836-68293836 |
4 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+1G>A |
SNV |
Pathogenic |
372467 |
rs587777709 |
5:67589663-67589663 |
5:68293835-68293835 |
5 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+2_1425+3del |
Deletion |
Pathogenic |
446499 |
rs1554051067 |
5:67589663-67589664 |
5:68293835-68293836 |
6 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+2T>A |
SNV |
Pathogenic |
446497 |
rs1554051075 |
5:67589664-67589664 |
5:68293836-68293836 |
7 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1300-1G>C |
SNV |
Pathogenic |
446500 |
rs1554051033 |
5:67589536-67589536 |
5:68293708-68293708 |
8 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) |
Duplication |
Pathogenic |
571336 |
rs1561299903 |
5:67591115-67591116 |
5:68295287-68295288 |
9 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+1G>A |
SNV |
Pathogenic |
372467 |
rs587777709 |
5:67589663-67589663 |
5:68293835-68293835 |
10 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) |
SNV |
Pathogenic |
376258 |
rs1057519838 |
5:67589618-67589618 |
5:68293790-68293790 |
11 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+1G>C |
SNV |
Pathogenic |
156009 |
rs587777709 |
5:67589663-67589663 |
5:68293835-68293835 |
12 |
PIK3R1 |
NM_181523.3(PIK3R1):c.965del (p.Met322fs) |
Deletion |
Pathogenic |
648899 |
rs1580260232 |
5:67588135-67588135 |
5:68292307-68292307 |
13 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1404_1425+4del |
Deletion |
Pathogenic |
935112 |
|
5:67589638-67589663 |
5:68293810-68293835 |
14 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1425+1G>T |
SNV |
Pathogenic |
156008 |
rs587777709 |
5:67589663-67589663 |
5:68293835-68293835 |
15 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) |
SNV |
Pathogenic |
60763 |
rs397515453 |
5:67592129-67592129 |
5:68296301-68296301 |
16 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) |
SNV |
Likely pathogenic |
60763 |
rs397515453 |
5:67592129-67592129 |
5:68296301-68296301 |
17 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1300-2A>G |
SNV |
Likely pathogenic |
827732 |
rs1403833564 |
5:67589535-67589535 |
5:68293707-68293707 |
18 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) |
SNV |
Uncertain significance |
859537 |
|
5:67590400-67590400 |
5:68294572-68294572 |
19 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) |
Deletion |
Uncertain significance |
861979 |
|
5:67592103-67592113 |
5:68296275-68296285 |
20 |
PIK3R1 |
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) |
SNV |
Uncertain significance |
863370 |
|
5:67576468-67576468 |
5:68280640-68280640 |
21 |
PIK3R1 |
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) |
SNV |
Uncertain significance |
624051 |
rs148059720 |
5:67575490-67575490 |
5:68279662-68279662 |
22 |
PIK3R1 |
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) |
SNV |
Uncertain significance |
834213 |
|
5:67576473-67576473 |
5:68280645-68280645 |
23 |
PIK3R1 |
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) |
SNV |
Uncertain significance |
835242 |
|
5:67575441-67575441 |
5:68279613-68279613 |
24 |
PIK3R1 |
NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) |
SNV |
Uncertain significance |
841166 |
|
5:67576443-67576443 |
5:68280615-68280615 |
25 |
PIK3R1 |
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) |
SNV |
Uncertain significance |
843492 |
|
5:67522760-67522760 |
5:68226932-68226932 |
26 |
PIK3R1 |
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) |
SNV |
Uncertain significance |
846266 |
|
5:67522754-67522754 |
5:68226926-68226926 |
27 |
PIK3R1 |
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) |
SNV |
Uncertain significance |
847379 |
|
5:67593422-67593422 |
5:68297594-68297594 |
28 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) |
SNV |
Uncertain significance |
848444 |
|
5:67590446-67590446 |
5:68294618-68294618 |
29 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) |
SNV |
Uncertain significance |
849630 |
|
5:67592028-67592028 |
5:68296200-68296200 |
30 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1300-10A>T |
SNV |
Uncertain significance |
849969 |
|
5:67589527-67589527 |
5:68293699-68293699 |
31 |
PIK3R1 |
NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) |
SNV |
Uncertain significance |
851179 |
|
5:67569231-67569231 |
5:68273403-68273403 |
32 |
PIK3R1 |
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) |
SNV |
Uncertain significance |
853571 |
|
5:67522835-67522835 |
5:68227007-68227007 |
33 |
PIK3R1 |
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) |
SNV |
Uncertain significance |
855460 |
|
5:67569230-67569230 |
5:68273402-68273402 |
34 |
PIK3R1 |
NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) |
SNV |
Uncertain significance |
855725 |
|
5:67576407-67576407 |
5:68280579-68280579 |
35 |
PIK3R1 |
NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) |
SNV |
Uncertain significance |
856837 |
|
5:67576397-67576397 |
5:68280569-68280569 |
36 |
PIK3R1 |
NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) |
SNV |
Uncertain significance |
857677 |
|
5:67569824-67569824 |
5:68273996-68273996 |
37 |
PIK3R1 |
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) |
Microsatellite |
Uncertain significance |
950410 |
|
5:67593262-67593263 |
5:68297434-68297435 |
38 |
PIK3R1 |
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) |
SNV |
Uncertain significance |
951482 |
|
5:67522703-67522703 |
5:68226875-68226875 |
39 |
PIK3R1 |
NM_181523.3(PIK3R1):c.334+4_334+9del |
Deletion |
Uncertain significance |
961973 |
|
5:67522841-67522846 |
5:68227013-68227018 |
40 |
PIK3R1 |
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) |
SNV |
Uncertain significance |
964329 |
|
5:67593386-67593386 |
5:68297558-68297558 |
41 |
PIK3R1 |
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) |
SNV |
Uncertain significance |
967011 |
|
5:67575480-67575480 |
5:68279652-68279652 |
42 |
PIK3R1 |
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) |
SNV |
Uncertain significance |
968750 |
|
5:67592045-67592045 |
5:68296217-68296217 |
43 |
PIK3R1 |
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) |
SNV |
Uncertain significance |
969295 |
|
5:67569282-67569282 |
5:68273454-68273454 |
44 |
PIK3R1 |
NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter) |
SNV |
Uncertain significance |
982699 |
|
5:67576382-67576382 |
5:68280554-68280554 |
45 |
PIK3R1 |
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del) |
Deletion |
Uncertain significance |
940717 |
|
5:67588133-67588144 |
5:68292305-68292316 |
46 |
PIK3R1 |
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) |
SNV |
Uncertain significance |
943204 |
|
5:67575489-67575489 |
5:68279661-68279661 |
47 |
PIK3R1 |
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) |
SNV |
Uncertain significance |
946102 |
|
5:67576807-67576807 |
5:68280979-68280979 |
48 |
PIK3R1 |
NM_181523.3(PIK3R1):c.917-1513G>T |
SNV |
Uncertain significance |
625995 |
rs144312303 |
5:67586574-67586574 |
5:68290746-68290746 |
49 |
PIK3R1 |
NM_181523.3(PIK3R1):c.427+4A>C |
SNV |
Uncertain significance |
642350 |
rs1380740486 |
5:67569314-67569314 |
5:68273486-68273486 |
50 |
PIK3R1 |
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) |
SNV |
Uncertain significance |
645272 |
rs1264292969 |
5:67575481-67575481 |
5:68279653-68279653 |