NM_017934.7(PHIP):c.2537+40G>A
|
rs1890229
|
0.44448
|
NM_017934.7(PHIP):c.2017+48G>A
|
rs11752126
|
0.41057
|
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.842G>A (p.Gly281Asp)
|
rs372699478
|
0.00001
|
NM_017934.7(PHIP):c.1137-2A>G
|
|
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NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)
|
rs2127741566
|
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NM_017934.7(PHIP):c.1234G>A (p.Gly412Ser)
|
|
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NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)
|
|
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NM_017934.7(PHIP):c.1296G>T (p.Trp432Cys)
|
|
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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)
|
|
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NM_017934.7(PHIP):c.1525-8T>C
|
|
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NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)
|
|
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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.298_299del (p.Leu100fs)
|
rs1554212744
|
|
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.41-7C>A
|
|
|
NM_017934.7(PHIP):c.439+5G>T
|
|
|
NM_017934.7(PHIP):c.487C>T (p.Arg163Ter)
|
rs2127760440
|
|
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.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
|
|