NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln)
|
rs115799619
|
0.00868
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)
|
rs34830861
|
0.00599
|
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp)
|
rs201829917
|
0.00472
|
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val)
|
rs34246477
|
0.00274
|
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)
|
rs144035770
|
0.00225
|
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr)
|
rs191656121
|
0.00156
|
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn)
|
rs570106950
|
0.00136
|
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)
|
rs202127176
|
0.00112
|
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)
|
rs201950081
|
0.00109
|
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met)
|
rs370663645
|
0.00091
|
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)
|
rs372935580
|
0.00080
|
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)
|
rs530387460
|
0.00077
|
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)
|
rs201442593
|
0.00069
|
NM_001142864.4(PIEZO1):c.6661-12T>G
|
rs540049109
|
0.00062
|
NM_001142864.4(PIEZO1):c.3699+6C>T
|
rs147726156
|
0.00060
|
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met)
|
rs199752762
|
0.00059
|
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile)
|
rs534283978
|
0.00058
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg)
|
rs533910472
|
0.00057
|
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His)
|
rs577357377
|
0.00057
|
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu)
|
rs538640563
|
0.00056
|
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp)
|
rs374203151
|
0.00053
|
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met)
|
rs369319123
|
0.00053
|
NM_001142864.4(PIEZO1):c.6165-7G>A
|
rs141011459
|
0.00051
|
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn)
|
rs772788410
|
0.00050
|
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu)
|
rs202099525
|
0.00048
|
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)
|
rs528448732
|
0.00048
|
NM_001142864.4(PIEZO1):c.5214+7C>T
|
rs764990602
|
0.00047
|
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly)
|
rs550322372
|
0.00047
|
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala)
|
rs550993341
|
0.00041
|
NM_001142864.4(PIEZO1):c.4539C>G (p.Phe1513Leu)
|
rs377025920
|
0.00040
|
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val)
|
rs531972155
|
0.00038
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
0.00036
|
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg)
|
rs200506892
|
0.00036
|
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)
|
rs201746476
|
0.00030
|
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp)
|
rs200031013
|
0.00029
|
NM_001142864.4(PIEZO1):c.5768C>T (p.Ala1923Val)
|
rs771257968
|
0.00029
|
NM_001142864.4(PIEZO1):c.5105C>T (p.Thr1702Met)
|
rs377701196
|
0.00028
|
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=)
|
rs370710857
|
0.00026
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile)
|
rs776788949
|
0.00019
|
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val)
|
rs532112751
|
0.00019
|
NM_001142864.4(PIEZO1):c.4291G>C (p.Ala1431Pro)
|
rs200653120
|
0.00019
|
NM_001142864.4(PIEZO1):c.4036T>G (p.Ser1346Ala)
|
rs373732822
|
0.00018
|
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=)
|
rs751557941
|
0.00016
|
NM_001142864.4(PIEZO1):c.7183G>A (p.Ala2395Thr)
|
rs1018199395
|
0.00016
|
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln)
|
rs773860217
|
0.00016
|
NM_001142864.4(PIEZO1):c.3410C>T (p.Pro1137Leu)
|
rs745987597
|
0.00015
|
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu)
|
rs373706590
|
0.00014
|
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr)
|
rs757753448
|
0.00014
|
NM_001142864.4(PIEZO1):c.4289A>T (p.Glu1430Val)
|
rs202066744
|
0.00013
|
NM_001142864.4(PIEZO1):c.5641C>A (p.Pro1881Thr)
|
rs539394199
|
0.00013
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
NM_001142864.4(PIEZO1):c.3395C>G (p.Thr1132Ser)
|
rs767222696
|
0.00011
|
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe)
|
rs992621550
|
0.00011
|
NM_001142864.4(PIEZO1):c.6315C>G (p.Leu2105=)
|
rs564995953
|
0.00010
|
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)
|
rs570744198
|
0.00010
|
NM_001142864.4(PIEZO1):c.4111C>T (p.Arg1371Cys)
|
rs570638507
|
0.00009
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
NM_001142864.4(PIEZO1):c.6553G>A (p.Ala2185Thr)
|
rs376951269
|
0.00009
|
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser)
|
rs545171267
|
0.00009
|
NM_001142864.4(PIEZO1):c.7184C>T (p.Ala2395Val)
|
rs201347067
|
0.00008
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
NM_001142864.4(PIEZO1):c.3376C>T (p.Arg1126Cys)
|
rs753243797
|
0.00006
|
NM_001142864.4(PIEZO1):c.4904C>G (p.Ala1635Gly)
|
rs746078716
|
0.00006
|
NM_001142864.4(PIEZO1):c.5822C>T (p.Pro1941Leu)
|
rs761049480
|
0.00006
|
NM_001142864.4(PIEZO1):c.6070C>T (p.Arg2024Cys)
|
rs549757408
|
0.00006
|
NM_001142864.4(PIEZO1):c.7501G>A (p.Ala2501Thr)
|
rs922432809
|
0.00006
|
NM_001142864.4(PIEZO1):c.4499G>A (p.Arg1500Gln)
|
rs1461948204
|
0.00005
|
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)
|
rs906425217
|
0.00005
|
NM_001142864.4(PIEZO1):c.6479C>T (p.Pro2160Leu)
|
rs753068603
|
0.00005
|
NM_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln)
|
rs779186692
|
0.00004
|
NM_001142864.4(PIEZO1):c.3303C>T (p.Ser1101=)
|
rs367579980
|
0.00004
|
NM_001142864.4(PIEZO1):c.4853G>A (p.Arg1618His)
|
rs752059066
|
0.00004
|
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His)
|
rs992473797
|
0.00004
|
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His)
|
rs1004130638
|
0.00004
|
NM_001142864.4(PIEZO1):c.6375G>A (p.Val2125=)
|
rs948359372
|
0.00004
|
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln)
|
rs377011269
|
0.00004
|
NM_001142864.4(PIEZO1):c.7414C>T (p.Pro2472Ser)
|
rs752052449
|
0.00004
|
NM_001142864.4(PIEZO1):c.352G>A (p.Ala118Thr)
|
rs752004128
|
0.00003
|
NM_001142864.4(PIEZO1):c.3665A>G (p.Asn1222Ser)
|
rs1064797060
|
0.00003
|
NM_001142864.4(PIEZO1):c.4027G>A (p.Glu1343Lys)
|
rs897720806
|
0.00003
|
NM_001142864.4(PIEZO1):c.5390G>A (p.Arg1797His)
|
rs759786040
|
0.00003
|
NM_001142864.4(PIEZO1):c.6754-14T>C
|
rs958476496
|
0.00003
|
NM_001142864.4(PIEZO1):c.6754-15G>A
|
rs761514562
|
0.00003
|
NM_001142864.4(PIEZO1):c.7550C>G (p.Thr2517Ser)
|
rs559557496
|
0.00003
|
NM_001142864.4(PIEZO1):c.3455+18C>G
|
rs1003038276
|
0.00002
|
NM_001142864.4(PIEZO1):c.4007T>C (p.Ile1336Thr)
|
rs141785047
|
0.00002
|
NM_001142864.4(PIEZO1):c.4009G>A (p.Asp1337Asn)
|
rs904289669
|
0.00002
|
NM_001142864.4(PIEZO1):c.5004G>A (p.Gly1668=)
|
rs776720032
|
0.00002
|
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe)
|
rs575482829
|
0.00002
|
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser)
|
rs1013412353
|
0.00002
|
NM_001142864.4(PIEZO1):c.19G>C (p.Gly7Arg)
|
rs1226315961
|
0.00001
|
NM_001142864.4(PIEZO1):c.3213G>C (p.Trp1071Cys)
|
rs1418147855
|
0.00001
|
NM_001142864.4(PIEZO1):c.3350C>T (p.Ser1117Leu)
|
rs587777765
|
0.00001
|
NM_001142864.4(PIEZO1):c.335T>C (p.Leu112Pro)
|
rs1201502287
|
0.00001
|
NM_001142864.4(PIEZO1):c.3461A>G (p.Tyr1154Cys)
|
rs1348948980
|
0.00001
|
NM_001142864.4(PIEZO1):c.3523T>G (p.Phe1175Val)
|
rs773476725
|
0.00001
|
NM_001142864.4(PIEZO1):c.3556G>A (p.Gly1186Arg)
|
rs536842871
|
0.00001
|
NM_001142864.4(PIEZO1):c.3699G>A (p.Ser1233=)
|
rs756007857
|
0.00001
|
NM_001142864.4(PIEZO1):c.3700-14C>T
|
rs1234335242
|
0.00001
|
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys)
|
rs907173644
|
0.00001
|
NM_001142864.4(PIEZO1):c.4058+29G>A
|
rs1031647624
|
0.00001
|
NM_001142864.4(PIEZO1):c.4235-23C>G
|
rs1415630333
|
0.00001
|
NM_001142864.4(PIEZO1):c.4444G>T (p.Gly1482Cys)
|
rs764863988
|
0.00001
|
NM_001142864.4(PIEZO1):c.4601G>A (p.Arg1534Gln)
|
rs920528969
|
0.00001
|
NM_001142864.4(PIEZO1):c.4669-5T>G
|
rs1344538557
|
0.00001
|
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys)
|
rs1040063411
|
0.00001
|
NM_001142864.4(PIEZO1):c.4981G>A (p.Glu1661Lys)
|
rs1406098820
|
0.00001
|
NM_001142864.4(PIEZO1):c.5060C>T (p.Ser1687Leu)
|
rs1209923928
|
0.00001
|
NM_001142864.4(PIEZO1):c.5284C>T (p.Arg1762Cys)
|
rs1184084921
|
0.00001
|
NM_001142864.4(PIEZO1):c.5295C>G (p.Asn1765Lys)
|
rs191843423
|
0.00001
|
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg)
|
rs367636785
|
0.00001
|
NM_001142864.4(PIEZO1):c.5668+3A>G
|
rs1270154612
|
0.00001
|
NM_001142864.4(PIEZO1):c.6079G>A (p.Val2027Met)
|
rs1221506488
|
0.00001
|
NM_001142864.4(PIEZO1):c.6160G>C (p.Glu2054Gln)
|
rs1334902592
|
0.00001
|
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)
|
rs1027478327
|
0.00001
|
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn)
|
rs781566440
|
0.00001
|
NM_001142864.4(PIEZO1):c.6733C>T (p.Arg2245Trp)
|
rs768394027
|
0.00001
|
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met)
|
rs868467734
|
0.00001
|
NM_001142864.4(PIEZO1):c.6809T>C (p.Ile2270Thr)
|
rs765389770
|
0.00001
|
NM_001142864.4(PIEZO1):c.6872A>C (p.Glu2291Ala)
|
rs1297228624
|
0.00001
|
NM_001142864.4(PIEZO1):c.6892G>A (p.Asp2298Asn)
|
rs760099159
|
0.00001
|
NM_001142864.4(PIEZO1):c.6992A>G (p.Asn2331Ser)
|
rs1386175142
|
0.00001
|
NM_001142864.4(PIEZO1):c.7000G>A (p.Ala2334Thr)
|
rs1189527575
|
0.00001
|
NM_001142864.4(PIEZO1):c.7102G>A (p.Ala2368Thr)
|
rs753588420
|
0.00001
|
NM_001142864.4(PIEZO1):c.7130-5C>A
|
rs1357808025
|
0.00001
|
NM_001142864.4(PIEZO1):c.7316G>A (p.Gly2439Asp)
|
rs1353678309
|
0.00001
|
NM_001142864.4(PIEZO1):c.7351A>G (p.Ile2451Val)
|
rs1360449118
|
0.00001
|
NM_001142864.4(PIEZO1):c.7387T>G (p.Ser2463Ala)
|
rs780322188
|
0.00001
|
GRCh37/hg19 16q24.3(chr16:88825321-88860473)x3
|
|
|
NC_000016.9:g.(?_88788606)_(88792112_?)dup
|
|
|
NM_001142864.4(PIEZO1):c.106C>T (p.Leu36Phe)
|
|
|
NM_001142864.4(PIEZO1):c.120_125dup (p.Leu41_Pro42dup)
|
rs1906266156
|
|
NM_001142864.4(PIEZO1):c.130T>A (p.Phe44Ile)
|
|
|
NM_001142864.4(PIEZO1):c.140C>G (p.Pro47Arg)
|
|
|
NM_001142864.4(PIEZO1):c.161G>T (p.Gly54Val)
|
|
|
NM_001142864.4(PIEZO1):c.166A>C (p.Thr56Pro)
|
|
|
NM_001142864.4(PIEZO1):c.167C>T (p.Thr56Ile)
|
|
|
NM_001142864.4(PIEZO1):c.176T>C (p.Leu59Pro)
|
|
|
NM_001142864.4(PIEZO1):c.226G>A (p.Ala76Thr)
|
|
|
NM_001142864.4(PIEZO1):c.245A>G (p.His82Arg)
|
|
|
NM_001142864.4(PIEZO1):c.253C>T (p.Pro85Ser)
|
|
|
NM_001142864.4(PIEZO1):c.289C>G (p.Arg97Gly)
|
|
|
NM_001142864.4(PIEZO1):c.308G>A (p.Arg103Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3198T>A (p.Asp1066Glu)
|
|
|
NM_001142864.4(PIEZO1):c.3218G>A (p.Arg1073Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3220G>A (p.Ala1074Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3223G>T (p.Val1075Phe)
|
|
|
NM_001142864.4(PIEZO1):c.3274C>T (p.Arg1092Trp)
|
|
|
NM_001142864.4(PIEZO1):c.328C>G (p.Leu110Val)
|
|
|
NM_001142864.4(PIEZO1):c.3293A>G (p.Asn1098Ser)
|
|
|
NM_001142864.4(PIEZO1):c.3322T>G (p.Cys1108Gly)
|
|
|
NM_001142864.4(PIEZO1):c.3325G>A (p.Ala1109Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3326C>T (p.Ala1109Val)
|
|
|
NM_001142864.4(PIEZO1):c.3358C>T (p.Arg1120Cys)
|
|
|
NM_001142864.4(PIEZO1):c.3359G>A (p.Arg1120His)
|
|
|
NM_001142864.4(PIEZO1):c.3361A>G (p.Thr1121Ala)
|
|
|
NM_001142864.4(PIEZO1):c.3364G>A (p.Glu1122Lys)
|
|
|
NM_001142864.4(PIEZO1):c.3395C>T (p.Thr1132Ile)
|
|
|
NM_001142864.4(PIEZO1):c.3397G>A (p.Asp1133Asn)
|
|
|
NM_001142864.4(PIEZO1):c.3400C>A (p.Arg1134Ser)
|
|
|
NM_001142864.4(PIEZO1):c.3400C>G (p.Arg1134Gly)
|
|
|
NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln)
|
rs747323210
|
|
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
|
|
|
NM_001142864.4(PIEZO1):c.3458C>G (p.Ser1153Cys)
|
|
|
NM_001142864.4(PIEZO1):c.3487T>G (p.Phe1163Val)
|
|
|
NM_001142864.4(PIEZO1):c.3491G>C (p.Arg1164Pro)
|
|
|
NM_001142864.4(PIEZO1):c.3520G>C (p.Val1174Leu)
|
|
|
NM_001142864.4(PIEZO1):c.353C>G (p.Ala118Gly)
|
|
|
NM_001142864.4(PIEZO1):c.3542G>A (p.Arg1181His)
|
|
|
NM_001142864.4(PIEZO1):c.3559C>G (p.Leu1187Val)
|
|
|
NM_001142864.4(PIEZO1):c.355A>C (p.Ile119Leu)
|
|
|
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3619G>C (p.Asp1207His)
|
rs1481409309
|
|
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp)
|
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3631C>T (p.Arg1211Cys)
|
|
|
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His)
|
|
|
NM_001142864.4(PIEZO1):c.3641T>C (p.Leu1214Pro)
|
|
|
NM_001142864.4(PIEZO1):c.3676A>G (p.Ile1226Val)
|
|
|
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG
|
rs1904465031
|
|
NM_001142864.4(PIEZO1):c.3707C>T (p.Ala1236Val)
|
|
|
NM_001142864.4(PIEZO1):c.3712G>A (p.Val1238Ile)
|
|
|
NM_001142864.4(PIEZO1):c.3728T>C (p.Met1243Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3734C>T (p.Thr1245Ile)
|
|
|
NM_001142864.4(PIEZO1):c.3775A>T (p.Thr1259Ser)
|
|
|
NM_001142864.4(PIEZO1):c.3781A>C (p.Lys1261Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn)
|
|
|
NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)
|
|
|
NM_001142864.4(PIEZO1):c.3796+21C>G
|
rs761028404
|
|
NM_001142864.4(PIEZO1):c.3796+21_3796+22delinsTA
|
rs2142785285
|
|
NM_001142864.4(PIEZO1):c.3796C>A (p.Pro1266Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3797-3C>T
|
|
|
NM_001142864.4(PIEZO1):c.3809T>C (p.Met1270Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3810G>A (p.Met1270Ile)
|
|
|
NM_001142864.4(PIEZO1):c.3815G>C (p.Arg1272Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly)
|
|
|
NM_001142864.4(PIEZO1):c.3832C>A (p.Leu1278Met)
|
|
|
NM_001142864.4(PIEZO1):c.3848C>G (p.Ala1283Gly)
|
|
|
NM_001142864.4(PIEZO1):c.3855C>G (p.Ile1285Met)
|
|
|
NM_001142864.4(PIEZO1):c.3858C>G (p.Ile1286Met)
|
|
|
NM_001142864.4(PIEZO1):c.3868G>T (p.Val1290Phe)
|
|
|
NM_001142864.4(PIEZO1):c.3886C>A (p.Leu1296Met)
|
|
|
NM_001142864.4(PIEZO1):c.3907C>T (p.Leu1303Phe)
|
|
|
NM_001142864.4(PIEZO1):c.3913C>T (p.His1305Tyr)
|
|
|
NM_001142864.4(PIEZO1):c.3923T>C (p.Leu1308Pro)
|
|
|
NM_001142864.4(PIEZO1):c.3925C>T (p.His1309Tyr)
|
|
|
NM_001142864.4(PIEZO1):c.3940C>T (p.Leu1314Phe)
|
rs1064796913
|
|
NM_001142864.4(PIEZO1):c.3962C>T (p.Ala1321Val)
|
|
|
NM_001142864.4(PIEZO1):c.3969-8C>G
|
|
|
NM_001142864.4(PIEZO1):c.3976G>A (p.Ala1326Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3983A>C (p.Tyr1328Ser)
|
|
|
NM_001142864.4(PIEZO1):c.3988G>A (p.Ala1330Thr)
|
|
|
NM_001142864.4(PIEZO1):c.4015C>T (p.His1339Tyr)
|
|
|
NM_001142864.4(PIEZO1):c.4018C>T (p.Arg1340Cys)
|
|
|
NM_001142864.4(PIEZO1):c.4019G>A (p.Arg1340His)
|
|
|
NM_001142864.4(PIEZO1):c.4024A>T (p.Ile1342Leu)
|
|
|
NM_001142864.4(PIEZO1):c.4027GAG[1] (p.Glu1344del)
|
|
|
NM_001142864.4(PIEZO1):c.4055G>T (p.Arg1352Ile)
|
|
|
NM_001142864.4(PIEZO1):c.4058A>T (p.Gln1353Leu)
|
|
|
NM_001142864.4(PIEZO1):c.4061T>G (p.Met1354Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4066C>T (p.Arg1356Cys)
|
|
|
NM_001142864.4(PIEZO1):c.4067G>A (p.Arg1356His)
|
|
|
NM_001142864.4(PIEZO1):c.4072C>T (p.Arg1358Cys)
|
|
|
NM_001142864.4(PIEZO1):c.4084_4086del (p.Glu1362del)
|
|
|
NM_001142864.4(PIEZO1):c.4102C>T (p.Arg1368Trp)
|
|
|
NM_001142864.4(PIEZO1):c.4117C>G (p.Arg1373Gly)
|
|
|
NM_001142864.4(PIEZO1):c.4117C>T (p.Arg1373Cys)
|
rs980052704
|
|
NM_001142864.4(PIEZO1):c.4118G>A (p.Arg1373His)
|
|
|
NM_001142864.4(PIEZO1):c.4123_4140del (p.Gln1375_Pro1380del)
|
|
|
NM_001142864.4(PIEZO1):c.4148C>G (p.Pro1383Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4150G>A (p.Gly1384Ser)
|
|
|
NM_001142864.4(PIEZO1):c.415T>G (p.Cys139Gly)
|
|
|
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser)
|
|
|
NM_001142864.4(PIEZO1):c.4181G>C (p.Gly1394Ala)
|
|
|
NM_001142864.4(PIEZO1):c.4195C>T (p.Arg1399Trp)
|
|
|
NM_001142864.4(PIEZO1):c.4196G>A (p.Arg1399Gln)
|
|
|
NM_001142864.4(PIEZO1):c.4199G>A (p.Arg1400Lys)
|
|
|
NM_001142864.4(PIEZO1):c.4210C>T (p.Arg1404Trp)
|
|
|
NM_001142864.4(PIEZO1):c.4211G>A (p.Arg1404Gln)
|
|
|
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro)
|
rs565593847
|
|
NM_001142864.4(PIEZO1):c.421C>T (p.Arg141Cys)
|
|
|
NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4246G>A (p.Gly1416Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4270G>A (p.Asp1424Asn)
|
|
|
NM_001142864.4(PIEZO1):c.428C>G (p.Ala143Gly)
|
|
|
NM_001142864.4(PIEZO1):c.4297C>A (p.Pro1433Thr)
|
|
|
NM_001142864.4(PIEZO1):c.4304A>C (p.Asp1435Ala)
|
|
|
NM_001142864.4(PIEZO1):c.4315T>C (p.Ser1439Pro)
|
|
|
NM_001142864.4(PIEZO1):c.4328C>A (p.Ala1443Asp)
|
|
|
NM_001142864.4(PIEZO1):c.4340C>T (p.Ala1447Val)
|
|
|
NM_001142864.4(PIEZO1):c.4351T>C (p.Trp1451Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4361A>G (p.Asn1454Ser)
|
|
|
NM_001142864.4(PIEZO1):c.4364C>T (p.Ala1455Val)
|
|
|
NM_001142864.4(PIEZO1):c.4370C>T (p.Ala1457Val)
|
|
|
NM_001142864.4(PIEZO1):c.4379GGC[1] (p.Arg1461_Arg1462del)
|
rs759270131
|
|
NM_001142864.4(PIEZO1):c.4382G>A (p.Arg1461Gln)
|
|
|
NM_001142864.4(PIEZO1):c.4387_4392del (p.Gln1463_Gln1464del)
|
|
|
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1])
|
rs11281795
|
|
NM_001142864.4(PIEZO1):c.439C>T (p.Arg147Trp)
|
|
|
NM_001142864.4(PIEZO1):c.4406_4416delinsAG (p.Ala1469_Gln1471del)
|
|
|
NM_001142864.4(PIEZO1):c.440G>A (p.Arg147Gln)
|
|
|
NM_001142864.4(PIEZO1):c.4420G>A (p.Ala1474Thr)
|
|
|
NM_001142864.4(PIEZO1):c.4426C>G (p.Gln1476Glu)
|
|
|
NM_001142864.4(PIEZO1):c.4451G>A (p.Ser1484Asn)
|
|
|
NM_001142864.4(PIEZO1):c.4492G>A (p.Ala1498Thr)
|
|
|
NM_001142864.4(PIEZO1):c.4496-3_4499dup
|
|
|
NM_001142864.4(PIEZO1):c.4499G>T (p.Arg1500Leu)
|
|
|
NM_001142864.4(PIEZO1):c.4503C>A (p.Ser1501Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4519G>C (p.Val1507Leu)
|
rs1256752400
|
|
NM_001142864.4(PIEZO1):c.4529C>T (p.Thr1510Met)
|
|
|
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
|
|
|
NM_001142864.4(PIEZO1):c.4559C>G (p.Ala1520Gly)
|
|
|
NM_001142864.4(PIEZO1):c.4567G>C (p.Asp1523His)
|
|
|
NM_001142864.4(PIEZO1):c.4579C>T (p.Arg1527Cys)
|
|
|
NM_001142864.4(PIEZO1):c.457C>T (p.Arg153Trp)
|
|
|
NM_001142864.4(PIEZO1):c.4600C>T (p.Arg1534Trp)
|
|
|
NM_001142864.4(PIEZO1):c.4607A>G (p.His1536Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4609G>C (p.Gly1537Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4619G>A (p.Ser1540Asn)
|
|
|
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu)
|
rs748928863
|
|
NM_001142864.4(PIEZO1):c.4631G>A (p.Arg1544Gln)
|
|
|
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=)
|
|
|
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
|
|
|
NM_001142864.4(PIEZO1):c.4672G>A (p.Gly1558Ser)
|
|
|
NM_001142864.4(PIEZO1):c.4675G>A (p.Glu1559Lys)
|
|
|
NM_001142864.4(PIEZO1):c.4685G>A (p.Arg1562Lys)
|
|
|
NM_001142864.4(PIEZO1):c.4690G>A (p.Val1564Met)
|
|
|
NM_001142864.4(PIEZO1):c.4713C>G (p.Ser1571Arg)
|
rs564248341
|
|
NM_001142864.4(PIEZO1):c.4720G>A (p.Glu1574Lys)
|
rs773645030
|
|
NM_001142864.4(PIEZO1):c.4727C>T (p.Thr1576Met)
|
|
|
NM_001142864.4(PIEZO1):c.4748C>T (p.Ala1583Val)
|
|
|
NM_001142864.4(PIEZO1):c.4768G>A (p.Val1590Met)
|
|
|
NM_001142864.4(PIEZO1):c.4776-15G>A
|
|
|
NM_001142864.4(PIEZO1):c.4776T>C (p.Ser1592=)
|
|
|
NM_001142864.4(PIEZO1):c.4784G>A (p.Gly1595Asp)
|
|
|
NM_001142864.4(PIEZO1):c.4786G>A (p.Ala1596Thr)
|
|
|
NM_001142864.4(PIEZO1):c.4799T>C (p.Leu1600Pro)
|
|
|
NM_001142864.4(PIEZO1):c.4815C>G (p.Asp1605Glu)
|
|
|
NM_001142864.4(PIEZO1):c.4820T>C (p.Met1607Thr)
|
|
|
NM_001142864.4(PIEZO1):c.4826G>A (p.Ser1609Asn)
|
|
|
NM_001142864.4(PIEZO1):c.4838C>T (p.Thr1613Ile)
|
|
|
NM_001142864.4(PIEZO1):c.4849A>C (p.Thr1617Pro)
|
|
|
NM_001142864.4(PIEZO1):c.4856G>A (p.Ser1619Asn)
|
|
|
NM_001142864.4(PIEZO1):c.4877C>T (p.Thr1626Ile)
|
|
|
NM_001142864.4(PIEZO1):c.4879G>A (p.Asp1627Asn)
|
|
|
NM_001142864.4(PIEZO1):c.4881C>A (p.Asp1627Glu)
|
|
|
NM_001142864.4(PIEZO1):c.4894G>A (p.Glu1632Lys)
|
|
|
NM_001142864.4(PIEZO1):c.4918G>A (p.Gly1640Arg)
|
|
|
NM_001142864.4(PIEZO1):c.4939G>A (p.Glu1647Lys)
|
|
|
NM_001142864.4(PIEZO1):c.4952A>C (p.Asp1651Ala)
|
|
|
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys)
|
|
|
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)
|
rs763940836
|
|
NM_001142864.4(PIEZO1):c.4994T>C (p.Phe1665Ser)
|
|
|
NM_001142864.4(PIEZO1):c.5011C>T (p.Arg1671Trp)
|
|
|
NM_001142864.4(PIEZO1):c.5012G>A (p.Arg1671Gln)
|
|
|
NM_001142864.4(PIEZO1):c.5021G>A (p.Arg1674Gln)
|
|
|
NM_001142864.4(PIEZO1):c.5029C>T (p.Arg1677Trp)
|
|
|
NM_001142864.4(PIEZO1):c.5035G>A (p.Val1679Met)
|
|
|
NM_001142864.4(PIEZO1):c.5047G>C (p.Val1683Leu)
|
|
|
NM_001142864.4(PIEZO1):c.5054C>T (p.Ala1685Val)
|
rs1008288721
|
|
NM_001142864.4(PIEZO1):c.5062_5063delinsCT (p.Glu1688Leu)
|
|
|
NM_001142864.4(PIEZO1):c.5072_5074del (p.Cys1691del)
|
|
|
NM_001142864.4(PIEZO1):c.5098A>G (p.Met1700Val)
|
|
|
NM_001142864.4(PIEZO1):c.5101G>A (p.Val1701Ile)
|
|
|
NM_001142864.4(PIEZO1):c.5108C>T (p.Ala1703Val)
|
|
|
NM_001142864.4(PIEZO1):c.5111C>A (p.Ser1704Tyr)
|
|
|
NM_001142864.4(PIEZO1):c.5116G>A (p.Gly1706Ser)
|
|
|
NM_001142864.4(PIEZO1):c.5134G>C (p.Val1712Leu)
|
rs760732001
|
|
NM_001142864.4(PIEZO1):c.5162C>T (p.Ser1721Leu)
|
|
|
NM_001142864.4(PIEZO1):c.5181G>C (p.Lys1727Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5200A>G (p.Ile1734Val)
|
|
|
NM_001142864.4(PIEZO1):c.5206T>C (p.Phe1736Leu)
|
|
|
NM_001142864.4(PIEZO1):c.5218G>A (p.Ala1740Thr)
|
|
|
NM_001142864.4(PIEZO1):c.5224GTC[1] (p.Val1743del)
|
|
|
NM_001142864.4(PIEZO1):c.5243A>C (p.Gln1748Pro)
|
rs1597445087
|
|
NM_001142864.4(PIEZO1):c.5249G>C (p.Gly1750Ala)
|
|
|
NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu)
|
rs753642385
|
|
NM_001142864.4(PIEZO1):c.5282G>A (p.Arg1761Gln)
|
|
|
NM_001142864.4(PIEZO1):c.5282G>C (p.Arg1761Pro)
|
|
|
NM_001142864.4(PIEZO1):c.5285G>A (p.Arg1762His)
|
|
|
NM_001142864.4(PIEZO1):c.5290G>A (p.Glu1764Lys)
|
rs749976222
|
|
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln)
|
rs749976222
|
|
NM_001142864.4(PIEZO1):c.5296A>C (p.Lys1766Gln)
|
|
|
NM_001142864.4(PIEZO1):c.5298G>T (p.Lys1766Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5341G>A (p.Gly1781Ser)
|
rs186774726
|
|
NM_001142864.4(PIEZO1):c.5353T>C (p.Tyr1785His)
|
|
|
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
|
|
|
NM_001142864.4(PIEZO1):c.5403G>A (p.Leu1801=)
|
|
|
NM_001142864.4(PIEZO1):c.5413C>G (p.Leu1805Val)
|
|
|
NM_001142864.4(PIEZO1):c.5419G>A (p.Asp1807Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5423A>G (p.His1808Arg)
|
|
|
NM_001142864.4(PIEZO1):c.5464G>C (p.Glu1822Gln)
|
rs762151744
|
|
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys)
|
|
|
NM_001142864.4(PIEZO1):c.5482G>C (p.Glu1828Gln)
|
|
|
NM_001142864.4(PIEZO1):c.5488G>T (p.Gly1830Trp)
|
|
|
NM_001142864.4(PIEZO1):c.5507C>A (p.Ala1836Asp)
|
rs2142764441
|
|
NM_001142864.4(PIEZO1):c.5513C>A (p.Thr1838Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5513C>T (p.Thr1838Ile)
|
rs745612488
|
|
NM_001142864.4(PIEZO1):c.5527C>G (p.Gln1843Glu)
|
|
|
NM_001142864.4(PIEZO1):c.5545G>A (p.Gly1849Arg)
|
|
|
NM_001142864.4(PIEZO1):c.5556C>G (p.Asp1852Glu)
|
|
|
NM_001142864.4(PIEZO1):c.5561C>A (p.Thr1854Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)
|
|
|
NM_001142864.4(PIEZO1):c.5590C>T (p.Arg1864Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5597C>T (p.Thr1866Met)
|
|
|
NM_001142864.4(PIEZO1):c.5602C>G (p.Arg1868Gly)
|
|
|
NM_001142864.4(PIEZO1):c.5638G>T (p.Gly1880Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5639G>T (p.Gly1880Val)
|
|
|
NM_001142864.4(PIEZO1):c.5657C>T (p.Ala1886Val)
|
|
|
NM_001142864.4(PIEZO1):c.5669-3C>T
|
|
|
NM_001142864.4(PIEZO1):c.5679C>T (p.Asp1893=)
|
|
|
NM_001142864.4(PIEZO1):c.5681G>C (p.Arg1894Thr)
|
|
|
NM_001142864.4(PIEZO1):c.5691_5705del (p.Glu1898_Glu1902del)
|
|
|
NM_001142864.4(PIEZO1):c.5695G>T (p.Gly1899Trp)
|
|
|
NM_001142864.4(PIEZO1):c.5700G>C (p.Glu1900Asp)
|
|
|
NM_001142864.4(PIEZO1):c.5701G>A (p.Glu1901Lys)
|
|
|
NM_001142864.4(PIEZO1):c.5704G>A (p.Glu1902Lys)
|
|
|
NM_001142864.4(PIEZO1):c.5719A>G (p.Thr1907Ala)
|
|
|
NM_001142864.4(PIEZO1):c.5720C>T (p.Thr1907Met)
|
|
|
NM_001142864.4(PIEZO1):c.5742C>A (p.Ser1914Arg)
|
|
|
NM_001142864.4(PIEZO1):c.5743C>G (p.Arg1915Gly)
|
rs13338527
|
|
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)
|
|
|
NM_001142864.4(PIEZO1):c.5747C>G (p.Ser1916Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5758G>C (p.Val1920Leu)
|
|
|
NM_001142864.4(PIEZO1):c.5762G>C (p.Arg1921Thr)
|
|
|
NM_001142864.4(PIEZO1):c.5765C>T (p.Ala1922Val)
|
|
|
NM_001142864.4(PIEZO1):c.5770G>A (p.Gly1924Arg)
|
|
|
NM_001142864.4(PIEZO1):c.5776C>T (p.Arg1926Trp)
|
|
|
NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln)
|
rs753296407
|
|
NM_001142864.4(PIEZO1):c.5780T>A (p.Leu1927Gln)
|
|
|
NM_001142864.4(PIEZO1):c.5792G>C (p.Cys1931Ser)
|
|
|
NM_001142864.4(PIEZO1):c.5802-4G>C
|
rs149342271
|
|
NM_001142864.4(PIEZO1):c.5806C>A (p.Gln1936Lys)
|
|
|
NM_001142864.4(PIEZO1):c.5810G>A (p.Gly1937Asp)
|
|
|
NM_001142864.4(PIEZO1):c.5816A>G (p.Tyr1939Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5820G>A (p.Arg1940=)
|
|
|
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp)
|
|
|
NM_001142864.4(PIEZO1):c.5833TTC[1] (p.Phe1946del)
|
rs1912355263
|
|
NM_001142864.4(PIEZO1):c.5840A>C (p.His1947Pro)
|
|
|
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
|
|
|
NM_001142864.4(PIEZO1):c.5858A>C (p.Lys1953Thr)
|
rs566633253
|
|
NM_001142864.4(PIEZO1):c.5862C>T (p.Tyr1954=)
|
|
|
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5866G>A (p.Ala1956Thr)
|
|
|
NM_001142864.4(PIEZO1):c.5867C>T (p.Ala1956Val)
|
|
|
NM_001142864.4(PIEZO1):c.5878G>A (p.Val1960Ile)
|
|
|
NM_001142864.4(PIEZO1):c.5891T>A (p.Met1964Lys)
|
rs1057524844
|
|
NM_001142864.4(PIEZO1):c.5911G>A (p.Asp1971Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
|
|
|
NM_001142864.4(PIEZO1):c.5937C>G (p.Phe1979Leu)
|
rs1236012452
|
|
NM_001142864.4(PIEZO1):c.5960C>T (p.Ala1987Val)
|
|
|
NM_001142864.4(PIEZO1):c.5979C>G (p.Ser1993=)
|
|
|
NM_001142864.4(PIEZO1):c.5992G>A (p.Asp1998Asn)
|
|
|
NM_001142864.4(PIEZO1):c.5997G>T (p.Gln1999His)
|
|
|
NM_001142864.4(PIEZO1):c.6007G>A (p.Ala2003Thr)
|
rs1912332137
|
|
NM_001142864.4(PIEZO1):c.6019A>T (p.Met2007Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6038G>C (p.Ser2013Thr)
|
|
|
NM_001142864.4(PIEZO1):c.6041C>T (p.Thr2014Ile)
|
|
|
NM_001142864.4(PIEZO1):c.6055C>T (p.Arg2019Cys)
|
|
|
NM_001142864.4(PIEZO1):c.6059C>T (p.Ala2020Val)
|
rs587777764
|
|
NM_001142864.4(PIEZO1):c.6064T>C (p.Tyr2022His)
|
|
|
NM_001142864.4(PIEZO1):c.6079G>T (p.Val2027Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6104T>G (p.Val2035Gly)
|
|
|
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val)
|
|
|
NM_001142864.4(PIEZO1):c.6151G>A (p.Ala2051Thr)
|
|
|
NM_001142864.4(PIEZO1):c.6165-5C>T
|
rs1265428173
|
|
NM_001142864.4(PIEZO1):c.6211T>C (p.Cys2071Arg)
|
rs2142759722
|
|
NM_001142864.4(PIEZO1):c.6214A>C (p.Ile2072Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6214A>G (p.Ile2072Val)
|
|
|
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser)
|
|
|
NM_001142864.4(PIEZO1):c.6279C>A (p.Phe2093Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
|
|
|
NM_001142864.4(PIEZO1):c.6340T>C (p.Phe2114Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6342C>G (p.Phe2114Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6353T>A (p.Leu2118Gln)
|
|
|
NM_001142864.4(PIEZO1):c.6392T>C (p.Leu2131Pro)
|
|
|
NM_001142864.4(PIEZO1):c.6398T>C (p.Leu2133Pro)
|
|
|
NM_001142864.4(PIEZO1):c.6407G>T (p.Trp2136Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6411G>A (p.Met2137Ile)
|
|
|
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly)
|
|
|
NM_001142864.4(PIEZO1):c.6446T>A (p.Ile2149Asn)
|
|
|
NM_001142864.4(PIEZO1):c.6460G>A (p.Glu2154Lys)
|
|
|
NM_001142864.4(PIEZO1):c.6473A>T (p.Lys2158Ile)
|
|
|
NM_001142864.4(PIEZO1):c.6482A>G (p.Gln2161Arg)
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[3] (p.Lys2168_Lys2169del)
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del)
|
rs763477215
|
|
NM_001142864.4(PIEZO1):c.6494AGA[6] (p.Lys2169dup)
|
rs763477215
|
|
NM_001142864.4(PIEZO1):c.65-17C>T
|
rs149858134
|
|
NM_001142864.4(PIEZO1):c.6506A>T (p.Lys2169Met)
|
|
|
NM_001142864.4(PIEZO1):c.6511G>A (p.Val2171Ile)
|
|
|
NM_001142864.4(PIEZO1):c.6539T>G (p.Ile2180Ser)
|
|
|
NM_001142864.4(PIEZO1):c.6556A>G (p.Ile2186Val)
|
|
|
NM_001142864.4(PIEZO1):c.6574C>A (p.Leu2192Ile)
|
rs772614278
|
|
NM_001142864.4(PIEZO1):c.6576_6590del (p.Phe2193_Val2197del)
|
|
|
NM_001142864.4(PIEZO1):c.6581T>A (p.Met2194Lys)
|
|
|
NM_001142864.4(PIEZO1):c.6582G>A (p.Met2194Ile)
|
|
|
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6598G>C (p.Val2200Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6634G>A (p.Val2212Ile)
|
|
|
NM_001142864.4(PIEZO1):c.6640C>G (p.Leu2214Val)
|
|
|
NM_001142864.4(PIEZO1):c.6652G>A (p.Gly2218Ser)
|
|
|
NM_001142864.4(PIEZO1):c.6660G>C (p.Glu2220Asp)
|
|
|
NM_001142864.4(PIEZO1):c.6662C>T (p.Pro2221Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6689C>T (p.Pro2230Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6739T>C (p.Phe2247Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6751C>T (p.Pro2251Ser)
|
|
|
NM_001142864.4(PIEZO1):c.6754-3C>T
|
|
|
NM_001142864.4(PIEZO1):c.6771C>T (p.Ile2257=)
|
rs2142750042
|
|
NM_001142864.4(PIEZO1):c.6782G>C (p.Ser2261Thr)
|
rs1912065147
|
|
NM_001142864.4(PIEZO1):c.6784C>G (p.Pro2262Ala)
|
|
|
NM_001142864.4(PIEZO1):c.6785C>T (p.Pro2262Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6789G>C (p.Glu2263Asp)
|
|
|
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)
|
rs546338962
|
|
NM_001142864.4(PIEZO1):c.6803C>T (p.Ala2268Val)
|
|
|
NM_001142864.4(PIEZO1):c.6811G>C (p.Glu2271Gln)
|
|
|
NM_001142864.4(PIEZO1):c.6818G>A (p.Ser2273Asn)
|
|
|
NM_001142864.4(PIEZO1):c.6823G>A (p.Gly2275Arg)
|
|
|
NM_001142864.4(PIEZO1):c.6823G>C (p.Gly2275Arg)
|
|
|
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val)
|
|
|
NM_001142864.4(PIEZO1):c.6829C>G (p.Leu2277Val)
|
|
|
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
|
|
|
NM_001142864.4(PIEZO1):c.6854G>A (p.Arg2285His)
|
|
|
NM_001142864.4(PIEZO1):c.6868C>T (p.Arg2290Trp)
|
|
|
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
|
|
|
NM_001142864.4(PIEZO1):c.6899C>T (p.Thr2300Ile)
|
|
|
NM_001142864.4(PIEZO1):c.6901_6912del (p.Leu2301_Thr2304del)
|
|
|
NM_001142864.4(PIEZO1):c.6922C>G (p.Gln2308Glu)
|
rs2142749340
|
|
NM_001142864.4(PIEZO1):c.6926+5G>A
|
|
|
NM_001142864.4(PIEZO1):c.6940G>A (p.Gly2314Arg)
|
|
|
NM_001142864.4(PIEZO1):c.6943G>C (p.Gly2315Arg)
|
rs912707774
|
|
NM_001142864.4(PIEZO1):c.6969G>C (p.Lys2323Asn)
|
rs951572334
|
|
NM_001142864.4(PIEZO1):c.6973A>C (p.Met2325Leu)
|
|
|
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
|
|
|
NM_001142864.4(PIEZO1):c.7049+9A>T
|
|
|
NM_001142864.4(PIEZO1):c.7067T>A (p.Phe2356Tyr)
|
|
|
NM_001142864.4(PIEZO1):c.7081C>A (p.Arg2361Ser)
|
|
|
NM_001142864.4(PIEZO1):c.7081C>T (p.Arg2361Cys)
|
|
|
NM_001142864.4(PIEZO1):c.7092C>A (p.Asn2364Lys)
|
rs953643803
|
|
NM_001142864.4(PIEZO1):c.7093G>A (p.Gly2365Arg)
|
|
|
NM_001142864.4(PIEZO1):c.7128C>T (p.Pro2376=)
|
|
|
NM_001142864.4(PIEZO1):c.7129+5G>A
|
rs1912013758
|
|
NM_001142864.4(PIEZO1):c.7141G>A (p.Asp2381Asn)
|
|
|
NM_001142864.4(PIEZO1):c.7145A>G (p.Tyr2382Cys)
|
|
|
NM_001142864.4(PIEZO1):c.7151G>C (p.Gly2384Ala)
|
|
|
NM_001142864.4(PIEZO1):c.7157G>A (p.Arg2386His)
|
|
|
NM_001142864.4(PIEZO1):c.7168C>T (p.Arg2390Trp)
|
|
|
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)
|
|
|
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
|
|
|
NM_001142864.4(PIEZO1):c.7226A>C (p.Gln2409Pro)
|
|
|
NM_001142864.4(PIEZO1):c.7231T>A (p.Cys2411Ser)
|
|
|
NM_001142864.4(PIEZO1):c.7231T>G (p.Cys2411Gly)
|
|
|
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly)
|
rs577922766
|
|
NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp)
|
|
|
NM_001142864.4(PIEZO1):c.7261G>A (p.Val2421Ile)
|
|
|
NM_001142864.4(PIEZO1):c.7271G>C (p.Ser2424Thr)
|
|
|
NM_001142864.4(PIEZO1):c.7283G>C (p.Ser2428Thr)
|
|
|
NM_001142864.4(PIEZO1):c.7292G>T (p.Ser2431Ile)
|
|
|
NM_001142864.4(PIEZO1):c.7316+4AGTG[3]
|
rs368997650
|
|
NM_001142864.4(PIEZO1):c.7317-5del
|
|
|
NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met)
|
|
|
NM_001142864.4(PIEZO1):c.7348_7359dup (p.Lys2453_Phe2454insValIleGlyLys)
|
|
|
NM_001142864.4(PIEZO1):c.7354G>A (p.Gly2452Ser)
|
rs531058403
|
|
NM_001142864.4(PIEZO1):c.7363G>T (p.Val2455Leu)
|
|
|
NM_001142864.4(PIEZO1):c.7366C>A (p.Arg2456Ser)
|
|
|
NM_001142864.4(PIEZO1):c.7380C>G (p.Ser2460Arg)
|
rs1191735185
|
|
NM_001142864.4(PIEZO1):c.7391A>G (p.His2464Arg)
|
|
|
NM_001142864.4(PIEZO1):c.7398T>C (p.Ile2466=)
|
|
|
NM_001142864.4(PIEZO1):c.7415C>T (p.Pro2472Leu)
|
|
|
NM_001142864.4(PIEZO1):c.7427G>A (p.Arg2476His)
|
|
|
NM_001142864.4(PIEZO1):c.7431C>G (p.Ile2477Met)
|
rs772748505
|
|
NM_001142864.4(PIEZO1):c.7469C>T (p.Thr2490Ile)
|
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
NM_001142864.4(PIEZO1):c.7481A>G (p.Glu2494Gly)
|
|
|
NM_001142864.4(PIEZO1):c.7507C>T (p.Leu2503Phe)
|
|
|
NM_001142864.4(PIEZO1):c.7522C>A (p.Arg2508Ser)
|
|
|
NM_001142864.4(PIEZO1):c.7540A>C (p.Ile2514Leu)
|
rs2142744633
|
|
NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His)
|
rs774268616
|
|
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro)
|
rs774268616
|
|
NM_001142864.4(PIEZO1):c.7555G>A (p.Glu2519Lys)
|
|
|
NM_001142864.4(PIEZO1):c.7561G>C (p.Glu2521Gln)
|
|
|
NM_001142864.4(PIEZO1):c.77G>A (p.Arg26His)
|
|
|