NM_017934.7(PHIP):c.3180T>C (p.Asp1060=)
|
rs7742431
|
0.48062
|
NM_017934.7(PHIP):c.2537+40G>A
|
rs1890229
|
0.44448
|
NM_017934.7(PHIP):c.4155C>T (p.Val1385=)
|
rs1984195
|
0.43860
|
NM_017934.7(PHIP):c.2017+48G>A
|
rs11752126
|
0.41057
|
NM_017934.7(PHIP):c.4228C>T (p.Leu1410=)
|
rs2275290
|
0.34422
|
NM_017934.7(PHIP):c.3278T>C (p.Leu1093Pro)
|
rs9350797
|
0.26957
|
NM_017934.7(PHIP):c.2832A>G (p.Thr944=)
|
rs12209235
|
0.05282
|
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)
|
rs563243550
|
0.00016
|
NM_017934.7(PHIP):c.1848A>C (p.Gln616His)
|
rs200020269
|
0.00008
|
NM_017934.7(PHIP):c.499A>G (p.Thr167Ala)
|
rs748247534
|
0.00005
|
NM_017934.7(PHIP):c.214C>T (p.Pro72Ser)
|
rs1773329318
|
0.00001
|
NM_017934.7(PHIP):c.2368C>T (p.Gln790Ter)
|
rs1582175173
|
0.00001
|
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)
|
rs200788163
|
0.00001
|
NM_017934.7(PHIP):c.4447C>T (p.Arg1483Ter)
|
rs1304822359
|
0.00001
|
NM_017934.7(PHIP):c.842G>A (p.Gly281Asp)
|
rs372699478
|
0.00001
|
NM_017934.7(PHIP):c.1137-2A>G
|
|
|
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)
|
rs2127741566
|
|
NM_017934.7(PHIP):c.1234G>A (p.Gly412Ser)
|
|
|
NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)
|
|
|
NM_017934.7(PHIP):c.1296G>T (p.Trp432Cys)
|
|
|
NM_017934.7(PHIP):c.1451C>T (p.Ser484Phe)
|
|
|
NM_017934.7(PHIP):c.1452_1458del (p.Ala485fs)
|
|
|
NM_017934.7(PHIP):c.1462G>T (p.Asp488Tyr)
|
rs2127740532
|
|
NM_017934.7(PHIP):c.1463A>T (p.Asp488Val)
|
rs2127740526
|
|
NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter)
|
rs1411448554
|
|
NM_017934.7(PHIP):c.1520A>G (p.Asn507Ser)
|
|
|
NM_017934.7(PHIP):c.1523dup (p.Met508fs)
|
|
|
NM_017934.7(PHIP):c.1525-8T>C
|
|
|
NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)
|
|
|
NM_017934.7(PHIP):c.1546G>A (p.Ala516Thr)
|
|
|
NM_017934.7(PHIP):c.1558dup (p.Cys520fs)
|
rs1582206547
|
|
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg)
|
rs1562171209
|
|
NM_017934.7(PHIP):c.1654-2A>C
|
|
|
NM_017934.7(PHIP):c.1988T>G (p.Val663Gly)
|
rs7747479
|
|
NM_017934.7(PHIP):c.2039_2040del (p.Glu680fs)
|
|
|
NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp)
|
|
|
NM_017934.7(PHIP):c.2041G>A (p.Val681Ile)
|
|
|
NM_017934.7(PHIP):c.2161C>T (p.Arg721Ter)
|
|
|
NM_017934.7(PHIP):c.2201+2092G>A
|
rs1769538513
|
|
NM_017934.7(PHIP):c.2216G>A (p.Trp739Ter)
|
|
|
NM_017934.7(PHIP):c.2305_2306insGA (p.Pro769fs)
|
rs1769197412
|
|
NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)
|
|
|
NM_017934.7(PHIP):c.2474T>G (p.Val825Gly)
|
|
|
NM_017934.7(PHIP):c.2483G>A (p.Ser828Asn)
|
|
|
NM_017934.7(PHIP):c.2499AGA[2] (p.Glu836del)
|
rs765827406
|
|
NM_017934.7(PHIP):c.2564G>A (p.Trp855Ter)
|
rs2127718655
|
|
NM_017934.7(PHIP):c.2703dup (p.Val902fs)
|
rs2127718540
|
|
NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs)
|
rs1562150844
|
|
NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn)
|
|
|
NM_017934.7(PHIP):c.2888A>G (p.Glu963Gly)
|
rs2127714980
|
|
NM_017934.7(PHIP):c.2890-2A>G
|
|
|
NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)
|
|
|
NM_017934.7(PHIP):c.298_299del (p.Leu100fs)
|
rs1554212744
|
|
NM_017934.7(PHIP):c.2T>C (p.Met1Thr)
|
rs1774283406
|
|
NM_017934.7(PHIP):c.3027A>G (p.Ile1009Met)
|
rs2127705231
|
|
NM_017934.7(PHIP):c.3110C>A (p.Ser1037Ter)
|
rs1767424632
|
|
NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer)
|
rs1562134961
|
|
NM_017934.7(PHIP):c.3193C>T (p.Arg1065Ter)
|
rs1767406859
|
|
NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)
|
|
|
NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)
|
|
|
NM_017934.7(PHIP):c.328C>A (p.Arg110Ser)
|
rs768324201
|
|
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)
|
rs768324201
|
|
NM_017934.7(PHIP):c.3317G>A (p.Cys1106Tyr)
|
rs2127701393
|
|
NM_017934.7(PHIP):c.3326A>G (p.Asn1109Ser)
|
|
|
NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)
|
|
|
NM_017934.7(PHIP):c.3447T>G (p.Tyr1149Ter)
|
rs1562128924
|
|
NM_017934.7(PHIP):c.3499del (p.Arg1167fs)
|
|
|
NM_017934.7(PHIP):c.3502dup (p.Ile1168fs)
|
rs1766898088
|
|
NM_017934.7(PHIP):c.3506T>C (p.Val1169Ala)
|
|
|
NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu)
|
|
|
NM_017934.7(PHIP):c.3571C>T (p.Gln1191Ter)
|
rs1554196907
|
|
NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer)
|
rs1562127631
|
|
NM_017934.7(PHIP):c.3610A>G (p.Thr1204Ala)
|
rs764645984
|
|
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs)
|
rs1766794792
|
|
NM_017934.7(PHIP):c.3656+1242A>T
|
rs1582111930
|
|
NM_017934.7(PHIP):c.3782+3_3782+6del
|
rs1131691771
|
|
NM_017934.7(PHIP):c.3782+4A>C
|
|
|
NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)
|
|
|
NM_017934.7(PHIP):c.3922A>T (p.Arg1308Ter)
|
rs2127690980
|
|
NM_017934.7(PHIP):c.3947dup (p.Tyr1316Ter)
|
rs1582100341
|
|
NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)
|
|
|
NM_017934.7(PHIP):c.40+1G>A
|
rs2127785060
|
|
NM_017934.7(PHIP):c.4042C>T (p.Leu1348Phe)
|
|
|
NM_017934.7(PHIP):c.41-7C>A
|
|
|
NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)
|
|
|
NM_017934.7(PHIP):c.4236T>A (p.Ala1412=)
|
rs2275291
|
|
NM_017934.7(PHIP):c.4370+1G>A
|
|
|
NM_017934.7(PHIP):c.439+5G>T
|
|
|
NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter)
|
rs1554194287
|
|
NM_017934.7(PHIP):c.4495G>A (p.Glu1499Lys)
|
rs1483958249
|
|
NM_017934.7(PHIP):c.4513C>T (p.Arg1505Ter)
|
|
|
NM_017934.7(PHIP):c.4528C>T (p.Arg1510Ter)
|
|
|
NM_017934.7(PHIP):c.4546G>A (p.Val1516Ile)
|
rs138108985
|
|
NM_017934.7(PHIP):c.4570del (p.Ser1524fs)
|
rs1562114190
|
|
NM_017934.7(PHIP):c.4630+2_4630+5del
|
rs2127682146
|
|
NM_017934.7(PHIP):c.4631-2A>T
|
rs1773759539
|
|
NM_017934.7(PHIP):c.4661C>T (p.Ala1554Val)
|
rs776659876
|
|
NM_017934.7(PHIP):c.4846G>A (p.Ala1616Thr)
|
|
|
NM_017934.7(PHIP):c.487C>T (p.Arg163Ter)
|
rs2127760440
|
|
NM_017934.7(PHIP):c.4979del (p.Gly1660fs)
|
|
|
NM_017934.7(PHIP):c.4981A>G (p.Arg1661Gly)
|
|
|
NM_017934.7(PHIP):c.5020T>G (p.Leu1674Val)
|
|
|
NM_017934.7(PHIP):c.50T>C (p.Phe17Ser)
|
rs878854420
|
|
NM_017934.7(PHIP):c.50T>G (p.Phe17Cys)
|
rs878854420
|
|
NM_017934.7(PHIP):c.5112T>G (p.Asp1704Glu)
|
|
|
NM_017934.7(PHIP):c.5255A>T (p.Glu1752Val)
|
|
|
NM_017934.7(PHIP):c.5269G>T (p.Glu1757Ter)
|
rs2127677390
|
|
NM_017934.7(PHIP):c.540_541insA (p.Gly181fs)
|
rs1562203136
|
|
NM_017934.7(PHIP):c.562T>C (p.Cys188Arg)
|
rs1772296823
|
|
NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs)
|
rs1554210073
|
|
NM_017934.7(PHIP):c.600+1G>C
|
|
|
NM_017934.7(PHIP):c.631G>A (p.Ala211Thr)
|
rs1371788682
|
|
NM_017934.7(PHIP):c.668G>T (p.Gly223Val)
|
rs1771386636
|
|
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu)
|
rs755604487
|
|
NM_017934.7(PHIP):c.704_705del (p.Asn234_Tyr235insTer)
|
rs2127748476
|
|
NM_017934.7(PHIP):c.705T>G (p.Tyr235Ter)
|
rs1562189451
|
|
NM_017934.7(PHIP):c.746T>A (p.Ile249Asn)
|
rs2127748441
|
|
NM_017934.7(PHIP):c.763C>T (p.Arg255Ter)
|
rs1064796868
|
|
NM_017934.7(PHIP):c.779del (p.Leu260fs)
|
rs878854421
|
|
NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)
|
|
|
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)
|
rs1085307845
|
|
NM_017934.7(PHIP):c.894G>A (p.Trp298Ter)
|
|
|
NM_017934.7(PHIP):c.895C>T (p.Leu299Phe)
|
|
|
NM_017934.7(PHIP):c.919_923del (p.Ile307fs)
|
rs771126523
|
|
Single allele
|
|
|