1 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6964G>T (p.Glu2322Ter) |
SNV |
Pathogenic
|
973951 |
rs774561483 |
GRCh37: 16:88782854-88782854 GRCh38: 16:88716446-88716446 |
2 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe) |
SNV |
Pathogenic
|
223131 |
rs370296725 |
GRCh37: 16:88783580-88783580 GRCh38: 16:88717172-88717172 |
3 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter) |
SNV |
Pathogenic
|
223128 |
rs869025597 |
GRCh37: 16:88788693-88788693 GRCh38: 16:88722285-88722285 |
4 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6682C>T (p.Gln2228Ter) |
SNV |
Pathogenic
|
223129 |
rs869025598 |
GRCh37: 16:88783285-88783285 GRCh38: 16:88716877-88716877 |
5 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.1669+1G>A |
SNV |
Pathogenic
|
223132 |
rs869025600 |
GRCh37: 16:88801542-88801542 GRCh38: 16:88735134-88735134 |
6 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.3796+1G>A |
SNV |
Pathogenic
|
223130 |
rs869025599 |
GRCh37: 16:88792954-88792954 GRCh38: 16:88726546-88726546 |
7 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter) |
SNV |
Pathogenic
|
223127 |
rs869025596 |
GRCh37: 16:88800380-88800380 GRCh38: 16:88733972-88733972 |
8 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu) |
SNV |
Pathogenic
|
223133 |
rs869025601 |
GRCh37: 16:88782368-88782368 GRCh38: 16:88715960-88715960 |
9 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter) |
SNV |
Pathogenic
|
449461 |
rs934897228 |
GRCh37: 16:88803079-88803079 GRCh38: 16:88736671-88736671 |
10 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) |
SNV |
Pathogenic
|
973950 |
rs201442593 |
GRCh37: 16:88787052-88787052 GRCh38: 16:88720644-88720644 |
11 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter) |
SNV |
Pathogenic
|
1707478 |
|
GRCh37: 16:88802732-88802732 GRCh38: 16:88736324-88736324 |
12 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.4373_4387delinsCGGCAGCAGG (p.Val1458fs) |
INDEL |
Likely Pathogenic
|
916578 |
rs1904297127 |
GRCh37: 16:88789685-88789699 GRCh38: 16:88723277-88723291 |
13 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) |
SNV |
Likely Pathogenic
|
978719 |
rs1904552378 |
GRCh37: 16:88794069-88794069 GRCh38: 16:88727661-88727661 |
14 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) |
SNV |
Likely Pathogenic
|
978720 |
rs1904821405 |
GRCh37: 16:88798119-88798119 GRCh38: 16:88731711-88731711 |
15 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.1297-1G>A |
SNV |
Likely Pathogenic
|
1698796 |
|
GRCh37: 16:88802817-88802817 GRCh38: 16:88736409-88736409 |
16 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.3206G>A (p.Trp1069Ter) |
SNV |
Likely Pathogenic
|
599180 |
rs1166021430 |
GRCh37: 16:88794060-88794060 GRCh38: 16:88727652-88727652 |
17 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6208A>C (p.Lys2070Gln) |
SNV |
Likely Pathogenic
|
599181 |
rs1567659736 |
GRCh37: 16:88786325-88786325 GRCh38: 16:88719917-88719917 |
18 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.2664G>A (p.Glu888_Pro889=) |
SNV |
Uncertain Significance
|
1709589 |
|
GRCh37: 16:88799686-88799686 GRCh38: 16:88733278-88733278 |
19 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6901_6912del (p.Leu2301_Thr2304del) |
DEL |
Uncertain Significance
|
1709590 |
|
GRCh37: 16:88782981-88782992 GRCh38: 16:88716573-88716584 |
20 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu) |
SNV |
Uncertain Significance
|
829803 |
rs1471934686 |
GRCh37: 16:88799858-88799858 GRCh38: 16:88733450-88733450 |
21 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro) |
SNV |
Uncertain Significance
|
638426 |
rs774268616 |
GRCh37: 16:88782026-88782026 GRCh38: 16:88715618-88715618 |
22 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) |
SNV |
Uncertain Significance
|
638427 |
rs568280615 |
GRCh37: 16:88798310-88798310 GRCh38: 16:88731902-88731902 |
23 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.19G>C (p.Gly7Arg) |
SNV |
Uncertain Significance
|
1030204 |
rs1226315961 |
GRCh37: 16:88851354-88851354 GRCh38: 16:88784946-88784946 |
24 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys) |
SNV |
Uncertain Significance
|
1030205 |
rs1021969177 |
GRCh37: 16:88800082-88800082 GRCh38: 16:88733674-88733674 |
25 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.5743C>G (p.Arg1915Gly) |
SNV |
Uncertain Significance
|
1030206 |
rs13338527 |
GRCh37: 16:88787082-88787082 GRCh38: 16:88720674-88720674 |
26 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6211T>C (p.Cys2071Arg) |
SNV |
Uncertain Significance
|
1177414 |
|
GRCh37: 16:88786322-88786322 GRCh38: 16:88719914-88719914 |
27 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) |
SNV |
Uncertain Significance
|
548456 |
rs769506340 |
GRCh37: 16:88798203-88798203 GRCh38: 16:88731795-88731795 |
28 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) |
SNV |
Uncertain Significance
|
242665 |
rs200970763 |
GRCh37: 16:88800139-88800139 GRCh38: 16:88733731-88733731 |
29 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) |
SNV |
Uncertain Significance
|
987920 |
rs906425217 |
GRCh37: 16:88788731-88788731 GRCh38: 16:88722323-88722323 |
30 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) |
SNV |
Likely Benign
|
446042 |
rs185326407 |
GRCh37: 16:88793155-88793155 GRCh38: 16:88726747-88726747 |
31 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) |
SNV |
Benign
|
440043 |
rs7184427 |
GRCh37: 16:88804734-88804734 GRCh38: 16:88738326-88738326 |
32 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) |
SNV |
Benign
|
440038 |
rs11645197 |
GRCh37: 16:88791458-88791458 GRCh38: 16:88725050-88725050 |
33 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.4956-3T>C |
SNV |
Benign
|
381268 |
rs9935872 |
GRCh37: 16:88788477-88788477 GRCh38: 16:88722069-88722069 |
34 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) |
SNV |
Benign
|
440035 |
rs1803382 |
GRCh37: 16:88783100-88783100 GRCh38: 16:88716692-88716692 |
35 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) |
MICROSAT |
Benign
|
440036 |
rs3217718 |
GRCh37: 16:88787608-88787610 GRCh38: 16:88721200-88721202 |
36 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) |
SNV |
Benign
|
440037 |
rs35159887 |
GRCh37: 16:88787673-88787673 GRCh38: 16:88721265-88721265 |
37 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) |
SNV |
Benign
|
440039 |
rs13333358 |
GRCh37: 16:88803124-88803124 GRCh38: 16:88736716-88736716 |
38 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) |
SNV |
Benign
|
440040 |
rs2290902 |
GRCh37: 16:88782676-88782676 GRCh38: 16:88716268-88716268 |
39 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) |
SNV |
Benign
|
440041 |
rs8057031 |
GRCh37: 16:88783449-88783449 GRCh38: 16:88717041-88717041 |
40 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.3969-5T>C |
SNV |
Benign
|
440042 |
rs4782429 |
GRCh37: 16:88792097-88792097 GRCh38: 16:88725689-88725689 |
41 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.635-8C>T |
SNV |
Benign
|
440044 |
rs11076706 |
GRCh37: 16:88804856-88804856 GRCh38: 16:88738448-88738448 |
42 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.465+8C>T |
SNV |
Benign
|
440045 |
rs2242164 |
GRCh37: 16:88807878-88807878 GRCh38: 16:88741470-88741470 |
43 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) |
SNV |
Benign
|
440046 |
rs6500495 |
GRCh37: 16:88808743-88808743 GRCh38: 16:88742335-88742335 |
44 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) |
SNV |
Benign
|
440047 |
rs2911442 |
GRCh37: 16:88851310-88851310 GRCh38: 16:88784902-88784902 |
45 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) |
SNV |
Benign
|
440048 |
rs6500491 |
GRCh37: 16:88783521-88783521 GRCh38: 16:88717113-88717113 |
46 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) |
SNV |
Benign
|
440049 |
rs8043924 |
GRCh37: 16:88787704-88787704 GRCh38: 16:88721296-88721296 |
47 |
PIEZO1 |
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) |
SNV |
Benign
|
440050 |
rs4782430 |
GRCh37: 16:88792047-88792047 GRCh38: 16:88725639-88725639 |
48 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) |
SNV |
Benign
|
440051 |
rs6500493 |
GRCh37: 16:88803982-88803982 GRCh38: 16:88737574-88737574 |
49 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) |
SNV |
Benign
|
618273 |
rs35597347 |
GRCh37: 16:88798869-88798869 GRCh38: 16:88732461-88732461 |
50 |
PIEZO1, LOC100289580 |
NM_001142864.4(PIEZO1):c.2329+19G>A |
SNV |
Benign
|
994106 |
rs2306050 |
GRCh37: 16:88800295-88800295 GRCh38: 16:88733887-88733887 |