| 基因名 | 突变 |
|---|---|
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113252927G>C,c.1376C>G,p.T459R |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113252868G>A,c.1435C>T,p.R479C |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113252852_113252854del,c.1449_1451del,p.483_484del |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113252841C>T,c.1462G>A,p.G488R |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113252811G>C,c.1492C>G,p.L498V |
| PPM1H(NM_020700,protein phosphatase, Mg2+/Mn2+ dependent, 1H,514aa) | g.12:63061097C>T,c.1258G>A,p.D420N |
| PPM1H(NM_020700,protein phosphatase, Mg2+/Mn2+ dependent, 1H,514aa) | g.12:63060973G>T,c.1382C>A,p.P461Q |
| PPM1G(NM_177983,protein phosphatase, Mg2+/Mn2+ dependent, 1G,546aa) | g.2:27604584C>T,c.1523G>A,p.R508Q |
| PPM1F(NM_014634,protein phosphatase, Mg2+/Mn2+ dependent, 1F,454aa) | g.22:22300380C>G,c.41G>C,p.S14T |
| PPM1F(NM_014634,protein phosphatase, Mg2+/Mn2+ dependent, 1F,454aa) | g.22:22300281G>A,c.140C>T,p.T47M |
| PPM1F(NM_014634,protein phosphatase, Mg2+/Mn2+ dependent, 1F,454aa) | g.22:22288560G>A,c.394C>T,p.R132C |
| PPM1F(NM_014634,protein phosphatase, Mg2+/Mn2+ dependent, 1F,454aa) | g.22:22285632G>A,c.779C>T,p.A260V |
| PPM1F(NM_014634,protein phosphatase, Mg2+/Mn2+ dependent, 1F,454aa) | g.22:22277659C>T,c.1171G>A,p.E391K |
| PPM1F(NM_014634,protein phosphatase, Mg2+/Mn2+ dependent, 1F,454aa) | g.22:22277571A>C,c.1259T>G,p.L420R |
| PPM1F(NM_014634,protein phosphatase, Mg2+/Mn2+ dependent, 1F,454aa) | g.22:22277521G>A,c.1309C>T,p.Q437X |
| PPM1E(NM_014906,protein phosphatase, Mg2+/Mn2+ dependent, 1E,755aa) | g.17:57058373G>T,c.2249G>T,p.W750L |
| PPM1E(NM_014906,protein phosphatase, Mg2+/Mn2+ dependent, 1E,755aa) | g.17:57058177C>T,c.2053C>T,p.P685S |
| PPM1E(NM_014906,protein phosphatase, Mg2+/Mn2+ dependent, 1E,755aa) | g.17:57058175A>G,c.2051A>G,p.N684S |
| PPM1E(NM_014906,protein phosphatase, Mg2+/Mn2+ dependent, 1E,755aa) | g.17:56833612C>G,c.254C>G,p.P85R |
| PPM1E(NM_014906,protein phosphatase, Mg2+/Mn2+ dependent, 1E,755aa) | g.17:56833491T>C,c.133T>C,p.S45P |
| PPM1E(NM_014906,protein phosphatase, Mg2+/Mn2+ dependent, 1E,755aa) | g.17:56833457_56833458insGAACCC,c.99_100insGAACCC,p.33_34ins2aa |
| PPM1E(NM_014906,protein phosphatase, Mg2+/Mn2+ dependent, 1E,755aa) | g.17:56833380G>A,c.22G>A,p.E8K |
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58740882A>G,c.1787A>G,p.H596R |
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58740645C>T,c.1550C>T,p.T517I |
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58740530G>A,c.1435G>A,p.A479T |
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58740438A>G,c.1343A>G,p.N448S |
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58701019del,c.610del,p.204fs |
| PPM1D(NM_003620,protein phosphatase, Mg2+/Mn2+ dependent, 1D,605aa) | g.17:58678037C>T,c.262C>T,p.P88S |