POGZ
| M12417 | chr1:
151381291-151381291 | T | G | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A1655C
c.A1781C
c.A1754C
c.A1913C
c.A1940C | p.Y552S
p.Y594S
p.Y585S
p.Y638S
p.Y647S | 17.21 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| M20743 | chr1:
151396002-151396002 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1264A
c.G1390A
c.G1363A
c.G1522A
c.G1549A | p.V422I
p.V464I
p.V455I
p.V508I
p.V517I | 22.3 | 8.238E-6 | Zhao2019
T
| |
| POGZ
| M02393 | chr1:
151381253-151381253 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A1693G
c.A1819G
c.A1792G
c.A1951G
c.A1978G | p.K565E
p.K607E
p.K598E
p.K651E
p.K660E | 25.2 | - | Zhao2019
T
| |
| POGZ
| GX0284.p1 | chr1:
151381283-151381283 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A1663C
c.A1789C
c.A1762C
c.A1921C
c.A1948C | p.N555H
p.N597H
p.N588H
p.N641H
p.N650H | 22.1 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| HEN0353.p1 | chr1:
151396521-151396521 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1142A
c.G1268A
c.G1241A
c.G1400A
c.G1427A | p.R381Q
p.R423Q
p.R414Q
p.R467Q
p.R476Q | 18.54 | 3.295E-5 | Guo2018
T
Zhao2019
T
| |
| POGZ
| M21662 | chr1:
151396522-151396522 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1141T
c.C1267T
c.C1240T
c.C1399T
c.C1426T | p.R381W
p.R423W
p.R414W
p.R467W
p.R476W | 19.53 | 4.118E-5 | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| M21656 | chr1:
151396503-151396503 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1160G
c.C1286G
c.C1259G
c.C1418G
c.C1445G | p.A387G
p.A429G
p.A420G
p.A473G
p.A482G | 13.35 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| M08828 | chr1:
151396521-151396521 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1142A
c.G1268A
c.G1241A
c.G1400A
c.G1427A | p.R381Q
p.R423Q
p.R414Q
p.R467Q
p.R476Q | 18.54 | 3.295E-5 | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| M19587 | chr1:
151396630-151396630 | G | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1033G
c.C1159G
c.C1132G
c.C1291G
c.C1318G | p.P345A
p.P387A
p.P378A
p.P431A
p.P440A | 18.32 | - | Zhao2019
T
| |
| POGZ
| M02213 | chr1:
151400305-151400305 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A787G
c.A913G
c.A886G
c.A1045G
c.A1072G | p.M263V
p.M305V
p.M296V
p.M349V
p.M358V | 6.02 | 6.331E-5 | Zhao2019
T
| |
| POGZ
| M23749 | chr1:
151396573-151396573 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1090A
c.G1216A
c.G1189A
c.G1348A
c.G1375A | p.D364N
p.D406N
p.D397N
p.D450N
p.D459N | 33.0 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| SF0147634.p1 | chr1:
151378489-151378489 | G | A | exonic | | | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T | p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X | 41.0 | - | Wang2020
T
| |
| POGZ
| M17431 | chr1:
151396573-151396573 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1090A
c.G1216A
c.G1189A
c.G1348A
c.G1375A | p.D364N
p.D406N
p.D397N
p.D450N
p.D459N | 33.0 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| GX0440.p1 | chr1:
151400435-151400435 | G | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C657G
c.C783G
c.C756G
c.C915G
c.C942G | p.S219R
p.S261R
p.S252R
p.S305R
p.S314R | 14.98 | 8.238E-6 | Guo2018
T
Zhao2019
T
| |
| POGZ
| HN0069.p1 | chr1:
151400475-151400475 | A | G | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.T617C
c.T743C
c.T716C
c.T875C
c.T902C | p.F206S
p.F248S
p.F239S
p.F292S
p.F301S | 14.29 | - | Zhao2019
T
| |
| POGZ
| M08871 | chr1:
151400407-151400407 | G | C | exonic | | Unknown, Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C685G
c.C811G
c.C784G
c.C943G
c.C970G | p.L229V
p.L271V
p.L262V
p.L315V
p.L324V | 10.45 | - | Wang2016
T
Zhao2019
T
| |
| POGZ
| GX0164.p1 | chr1:
151400435-151400435 | G | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C657G
c.C783G
c.C756G
c.C915G
c.C942G | p.S219R
p.S261R
p.S252R
p.S305R
p.S314R | 14.98 | 8.238E-6 | Guo2018
T
Zhao2019
T
| |
| POGZ
| GX0532.p1 | chr1:
151400628-151400628 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A545G
c.A671G
c.A671G
c.A830G
c.A830G | p.Q182R
p.Q224R
p.Q224R
p.Q277R
p.Q277R | 20.3 | 4.118E-5 | Guo2018
T
Zhao2019
T
| |
| POGZ
| M21552 | chr1:
151379747-151379747 | C | T | exonic | | Unknown, De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A | p.S704N
p.S746N
p.S737N
p.S790N
p.S799N | 32.0 | - | Guo2018
T
Li2017
T
Stessman2017
T
Stessman2017
T
Wang2016
T
| |
| POGZ
| SD0063.p1 | chr1:
151400628-151400628 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A545G
c.A671G
c.A671G
c.A830G
c.A830G | p.Q182R
p.Q224R
p.Q224R
p.Q277R
p.Q277R | 20.3 | 4.118E-5 | Guo2018
T
Zhao2019
T
| |
| POGZ
| SF0053415.p1 | chr1:
151397434-151397436 | CAT | C | exonic | | | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.895_896del
c.1021_1022del
c.994_995del
c.1153_1154del
c.1180_1181del | p.M299fs
p.M341fs
p.M332fs
p.M385fs
p.M394fs | - | - | Wang2020
T
| |
| POGZ
| SP0053415 | chr1:
151397434-151397436 | CAT | C | exonic | | De novo | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.895_896del
c.1021_1022del
c.994_995del
c.1153_1154del
c.1180_1181del | p.M299fs
p.M341fs
p.M332fs
p.M385fs
p.M394fs | - | - | Antaki2022
GE
Fu2022
E
Zhou2022
GE
| |
| POGZ
| M08437 | chr1:
151400517-151400517 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_015100 | c.C575T
c.C701T
c.C860T | p.A192V
p.A234V
p.A287V | 14.1 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| GX0311.p1 | chr1:
151400628-151400628 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A545G
c.A671G
c.A671G
c.A830G
c.A830G | p.Q182R
p.Q224R
p.Q224R
p.Q277R
p.Q277R | 20.3 | 4.118E-5 | Guo2018
T
Zhao2019
T
| |
| POGZ
| GX0567.p1 | chr1:
151400709-151400709 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A464G
c.A590G
c.A590G
c.A749G
c.A749G | p.K155R
p.K197R
p.K197R
p.K250R
p.K250R | 17.3 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| SF0054512.p1 | chr1:
151381039-151381039 | G | A | exonic | | | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1795T
c.C1921T
c.C1894T
c.C2053T
c.C2080T | p.R599X
p.R641X
p.R632X
p.R685X
p.R694X | 39.0 | - | Wang2020
T
| |
| POGZ
| SP0147634 | chr1:
151378489-151378489 | G | A | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T | p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X | 41.0 | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| GX0486.p1 | chr1:
151400833-151400833 | T | A | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A340T
c.A466T
c.A466T
c.A625T
c.A625T | p.M114L
p.M156L
p.M156L
p.M209L
p.M209L | 12.38 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| SF0003304.p1 | chr1:
151379749-151379749 | C | CT | exonic | | | frameshift insertion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.2108dupA
c.2234dupA
c.2207dupA
c.2366dupA
c.2393dupA | p.K703fs
p.K745fs
p.K736fs
p.K789fs
p.K798fs | - | - | Wang2020
T
| |
| POGZ
| SSC07646 | chr1:
151377903-151377903 | T | TCGTCATCA | exonic | | De novo | frameshift insertion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3322_3323insTGATGACG
c.3448_3449insTGATGACG
c.3421_3422insTGATGACG
c.3580_3581insTGATGACG
c.3607_3608insTGATGACG | p.E1108fs
p.E1150fs
p.E1141fs
p.E1194fs
p.E1203fs | - | - | Antaki2022
GE
Fu2022
E
Trost2022
G
| |
| POGZ
| M02493 |
Complex Event; expand row to view variants | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C509G
c.C635G
c.C635G
c.C794G
c.C794G | p.T170S
p.T212S
p.T212S
p.T265S
p.T265S | 14.62 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| 1-0025-006 | chr1:
151375732-151375732 | A | G | UTR3 | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| POGZ
| SF0044746.p1 | chr1:
151384235-151384235 | G | C | exonic | | | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1507G
c.C1633G
c.C1606G
c.C1765G
c.C1792G | p.R503G
p.R545G
p.R536G
p.R589G
p.R598G | 20.9 | - | Wang2020
T
| |
| POGZ
| SP0044746 | chr1:
151384235-151384235 | G | C | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1507G
c.C1633G
c.C1606G
c.C1765G
c.C1792G | p.R503G
p.R545G
p.R536G
p.R589G
p.R598G | 20.9 | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| M30907 | chr1:
151400701-151400701 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C472T
c.C598T
c.C598T
c.C757T
c.C757T | p.P158S
p.P200S
p.P200S
p.P253S
p.P253S | 17.14 | - | Zhao2019
T
| |
| POGZ
| SF0054512.p2 | chr1:
151381039-151381039 | G | A | exonic | | | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1795T
c.C1921T
c.C1894T
c.C2053T
c.C2080T | p.R599X
p.R641X
p.R632X
p.R685X
p.R694X | 39.0 | - | Wang2020
T
| |
| POGZ
| SP0003304 | chr1:
151379749-151379749 | C | CT | exonic | | De novo | frameshift insertion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.2108dupA
c.2234dupA
c.2207dupA
c.2366dupA
c.2393dupA | p.K703fs
p.K745fs
p.K736fs
p.K789fs
p.K798fs | - | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| M30922 | chr1:
151403298-151403298 | C | A | exonic | | Maternal | nonsynonymous SNV | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G144T
c.G144T
c.G303T
c.G303T | p.Q48H
p.Q48H
p.Q101H
p.Q101H | 15.75 | - | Zhao2019
T
| |
| POGZ
| M26892 | chr1:
151413415-151413415 | G | T | exonic | | Unknown | nonsynonymous SNV | NM_001194937
NM_015100
NM_145796 | c.C272A
c.C272A
c.C272A | p.A91D
p.A91D
p.A91D | 23.5 | - | Zhao2019
T
| |
| POGZ
| GX0471.p1 | chr1:
151402148-151402148 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A340G
c.A340G
c.A499G
c.A499G | p.M114V
p.M114V
p.M167V
p.M167V | 19.53 | 8.24E-6 | Guo2018
T
Zhao2019
T
| |
| POGZ
| M19580 | chr1:
151403282-151403282 | G | C | exonic | | Unknown | nonsynonymous SNV | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C160G
c.C160G
c.C319G
c.C319G | p.L54V
p.L54V
p.L107V
p.L107V | 11.62 | - | Zhao2019
T
| |
| POGZ
| M21555 | chr1:
151413476-151413476 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001194937
NM_015100
NM_145796 | c.G211A
c.G211A
c.G211A | p.V71I
p.V71I
p.V71I | 9.074 | - | Wang2016
T
Zhao2019
T
| |
| POGZ
| M08704 | chr1:
151413557-151413557 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001194937
NM_015100
NM_145796 | c.G130A
c.G130A
c.G130A | p.V44M
p.V44M
p.V44M | 16.55 | 8.982E-5 | Zhao2019
T
| |
| POGZ
| M30868 | chr1:
151413476-151413476 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001194937
NM_015100
NM_145796 | c.G211A
c.G211A
c.G211A | p.V71I
p.V71I
p.V71I | 9.074 | - | Zhao2019
T
| |
| POGZ
| GX0091.p1 | chr1:
151413476-151413476 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_001194937
NM_015100
NM_145796 | c.G211A
c.G211A
c.G211A | p.V71I
p.V71I
p.V71I | 9.074 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| 2-1402-003 | chr1:
151384104-151384104 | G | C | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1638G
c.C1764G
c.C1737G
c.C1896G
c.C1923G | p.H546Q
p.H588Q
p.H579Q
p.H632Q
p.H641Q | 18.0 | - | Trost2022
G
Wang2020
T
Zhao2019
T
Zhou2022
GE
| |
| POGZ
| EE7 | chr1:
151378372-151378372 | C | A | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2854T
c.G2980T
c.G2953T
c.G3112T
c.G3139T | p.E952X
p.E994X
p.E985X
p.E1038X
p.E1047X | 42.0 | - | Zhao2019
T
| |
| POGZ
| EE8 | chr1:
151380659-151380660 | AG | A | exonic | | De novo | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.2006delC
c.2132delC
c.2105delC
c.2264delC
c.2291delC | p.P669fs
p.P711fs
p.P702fs
p.P755fs
p.P764fs | - | - | Zhao2019
T
| |
| POGZ
| C221603 | chr1:
151380957-151380957 | G | C | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1877G
c.C2003G
c.C1976G
c.C2135G
c.C2162G | p.S626X
p.S668X
p.S659X
p.S712X
p.S721X | 37.0 | - | Fu2022
E
| |
| POGZ
| Zhao2019:NA | chr1:
151378393-151378393 | C | T | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2833A
c.G2959A
c.G2932A
c.G3091A
c.G3118A | p.E945K
p.E987K
p.E978K
p.E1031K
p.E1040K | 21.3 | - | Zhao2019
T
| |
| POGZ
| EE6 | chr1:
151402109-151402109 | G | A | exonic | | De novo | stopgain | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C379T
c.C379T
c.C538T
c.C538T | p.Q127X
p.Q127X
p.Q180X
p.Q180X | 37.0 | - | Zhao2019
T
| |
| POGZ
| 2-0116-004 | chr1:
151411782-151411782 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| POGZ
| 1-0355-003 | chr1:
151396465-151396465 | G | A | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1198T
c.C1324T
c.C1297T
c.C1456T
c.C1483T | p.R400X
p.R442X
p.R433X
p.R486X
p.R495X | 36.0 | - | Wang2020
T
Zhao2019
T
| |
| POGZ
| EE5 | chr1:
151396736-151396736 | G | T | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C927A
c.C1053A
c.C1026A
c.C1185A
c.C1212A | p.Y309X
p.Y351X
p.Y342X
p.Y395X
p.Y404X | 36.0 | - | Zhao2019
T
| |
| POGZ
| SSC11572 | chr1:
151400436-151400436 | C | T | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G656A
c.G782A
c.G755A
c.G914A
c.G941A | p.S219N
p.S261N
p.S252N
p.S305N
p.S314N | 13.87 | - | Fu2022
E
Trost2022
G
| |
| POGZ
| 36855 | chr1:
151384237-151384237 | T | C | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A1505G
c.A1631G
c.A1604G
c.A1763G
c.A1790G | p.Y502C
p.Y544C
p.Y535C
p.Y588C
p.Y597C | 16.85 | - | Fu2022
E
Trost2022
G
| |
| POGZ
| 12854_p1 | chr1:
151378253-151378253 | C | T | exonic | | De novo | synonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2973A
c.G3099A
c.G3072A
c.G3231A
c.G3258A | p.R991R
p.R1033R
p.R1024R
p.R1077R
p.R1086R | - | - | Fu2022
E
| |
| POGZ
| 13507.p1 | chr1:
151384795-151384795 | C | T | exonic | | Mosaic Mat. | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1471A
c.G1597A
c.G1570A
c.G1729A
c.G1756A | p.G491R
p.G533R
p.G524R
p.G577R
p.G586R | 29.1 | - | Dou2017
E
| |
| POGZ
| TASC_219-2320-0001 | chr1:
151381250-151381250 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1696A
c.G1822A
c.G1795A
c.G1954A
c.G1981A | p.D566N
p.D608N
p.D599N
p.D652N
p.D661N | 33.0 | - | Wang2020
T
| |
| POGZ
| ACGC_M21662 | chr1:
151396522-151396522 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1141T
c.C1267T
c.C1240T
c.C1399T
c.C1426T | p.R381W
p.R423W
p.R414W
p.R467W
p.R476W | 19.53 | 4.118E-5 | Wang2020
T
| |
| POGZ
| 12854.p1 | chr1:
151378253-151378253 | C | T | exonic | | De novo | synonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2973A
c.G3099A
c.G3072A
c.G3231A
c.G3258A | p.R991R
p.R1033R
p.R1024R
p.R1077R
p.R1086R | - | - | Iossifov2014
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| 13627.p1 | chr1:
151378489-151378489 | G | A | exonic | | Unknown, De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T | p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X | 41.0 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Wang2020
T
Zhao2019
T
Zhou2022
GE
| |
| POGZ
| ASD-817 | chr1:
151397435-151397438 | ATGT | GG | exonic | | De novo | frameshift substitution | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.893_896CC
c.1019_1022CC
c.992_995CC
c.1151_1154CC
c.1178_1181CC | N/A
N/A
N/A
N/A
N/A | - | - | Du2018
E
| |
| POGZ
| 14551.p1 | chr1:
151384237-151384237 | T | C | exonic | | Unknown, De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A1505G
c.A1631G
c.A1604G
c.A1763G
c.A1790G | p.Y502C
p.Y544C
p.Y535C
p.Y588C
p.Y597C | 16.85 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Zhao2019
T
Zhou2022
GE
| |
| POGZ
| 14483.p1 | chr1:
151400436-151400436 | C | T | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G656A
c.G782A
c.G755A
c.G914A
c.G941A | p.S219N
p.S261N
p.S252N
p.S305N
p.S314N | 13.87 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Zhao2019
T
Zhou2022
GE
| |
| POGZ
| Miyake2023:5542 | chr1:
151378393-151378393 | C | T | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2833A
c.G2959A
c.G2932A
c.G3091A
c.G3118A | p.E945K
p.E987K
p.E978K
p.E1031K
p.E1040K | 21.3 | - | Miyake2023
E
| |
| POGZ
| 1-0458-005 | chr1:
151467905-151467905 | G | A | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| POGZ
| TASC_210-18172-301 | chr1:
151380703-151380703 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1963T
c.C2089T
c.C2062T
c.C2221T
c.C2248T | p.R655W
p.R697W
p.R688W
p.R741W
p.R750W | 18.84 | - | Wang2020
T
| |
| POGZ
| ACGC_M17431 | chr1:
151396573-151396573 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1090A
c.G1216A
c.G1189A
c.G1348A
c.G1375A | p.D364N
p.D406N
p.D397N
p.D450N
p.D459N | 33.0 | - | Wang2020
T
| |
| POGZ
| Leuven2_70146436 | chr1:
151402166-151402166 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C322T
c.C322T
c.C481T
c.C481T | p.R108W
p.R108W
p.R161W
p.R161W | 22.4 | - | Wang2020
T
| |
| POGZ
| TASC_210-18172-302 | chr1:
151380703-151380703 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1963T
c.C2089T
c.C2062T
c.C2221T
c.C2248T | p.R655W
p.R697W
p.R688W
p.R741W
p.R750W | 18.84 | - | Wang2020
T
| |
| POGZ
| M21483 | chr1:
151400701-151400701 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C472T
c.C598T
c.C598T
c.C757T
c.C757T | p.P158S
p.P200S
p.P200S
p.P253S
p.P253S | 17.14 | - | Wang2016
T
| |
| POGZ
| ACGC_M23749 | chr1:
151396573-151396573 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1090A
c.G1216A
c.G1189A
c.G1348A
c.G1375A | p.D364N
p.D406N
p.D397N
p.D450N
p.D459N | 33.0 | - | Wang2020
T
| |
| POGZ
| 210-18172-302 | chr1:
151380703-151380703 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1963T
c.C2089T
c.C2062T
c.C2221T
c.C2248T | p.R655W
p.R697W
p.R688W
p.R741W
p.R750W | 18.84 | - | Stessman2017
T
| |
| POGZ
| ACGC_HN0067.p1 | chr1:
151378395-151378395 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A | p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H | 19.5 | 4.119E-5 | Wang2020
T
| |
| POGZ
| 13398.p1 |
Complex Event; expand row to view variants | | Unknown, De novo | frameshift insertion, stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3322_3323insTGATGACG
c.3448_3449insTGATGACG
c.3421_3422insTGATGACG
c.3580_3581insTGATGACG
c.3607_3608insTGATGACG
c.3321_3322insTGATGACG
c.3447_3448insTGATGACG
c.3420_3421insTGATGACG
c.3579_3580insTGATGACG
c.3606_3607insTGATGACG | p.E1108fs
p.E1150fs
p.E1141fs
p.E1194fs
p.E1203fs
p.E1108_I1109delinsX
p.E1150_I1151delinsX
p.E1141_I1142delinsX
p.E1194_I1195delinsX
p.E1203_I1204delinsX | - | - | Dong2014
E
Iossifov2012
E
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Willsey2013
E
Zhao2019
T
Zhou2022
GE
| |
| POGZ
| TASC_211-5353-3 | chr1:
151395887-151395887 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1379T
c.C1505T
c.C1478T
c.C1637T
c.C1664T | p.P460L
p.P502L
p.P493L
p.P546L
p.P555L | 24.6 | - | Wang2020
T
| |
| POGZ
| ACGC_M19813 | chr1:
151402109-151402109 | G | A | exonic | | De novo | stopgain | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C379T
c.C379T
c.C538T
c.C538T | p.Q127X
p.Q127X
p.Q180X
p.Q180X | 37.0 | - | Wang2020
T
| |
| POGZ
| TASC_215-13144-1613 | chr1:
151396736-151396736 | G | T | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C927A
c.C1053A
c.C1026A
c.C1185A
c.C1212A | p.Y309X
p.Y351X
p.Y342X
p.Y395X
p.Y404X | 36.0 | - | Wang2020
T
| |
| POGZ
| ACGC_M8734 | chr1:
151378395-151378395 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A | p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H | 19.5 | 4.119E-5 | Wang2020
T
| |
| POGZ
| Mahjani2021:7 | chr1:
151378053-151378055 | CCT | C | exonic | | | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del | p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs | - | - | Mahjani2021
E
| |
| POGZ
| AU3175303 | chr1:
151434496-151434496 | T | C | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| POGZ
| Miyake2023:12240 | chr1:
151378386-151378386 | T | C | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A2840G
c.A2966G
c.A2939G
c.A3098G
c.A3125G | p.Q947R
p.Q989R
p.Q980R
p.Q1033R
p.Q1042R | 18.27 | - | Miyake2023
E
| |
| POGZ
| 211-5353-3 | chr1:
151395887-151395887 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1379T
c.C1505T
c.C1478T
c.C1637T
c.C1664T | p.P460L
p.P502L
p.P493L
p.P546L
p.P555L | 24.6 | - | Stessman2017
T
| |
| POGZ
| Mahjani2021:2 | chr1:
151377821-151377822 | AC | A | exonic | | | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3404delG
c.3530delG
c.3503delG
c.3662delG
c.3689delG | p.C1135fs
p.C1177fs
p.C1168fs
p.C1221fs
p.C1230fs | - | - | Mahjani2021
E
| |
| POGZ
| Mahjani2021:8 | chr1:
151378522-151378522 | G | A | exonic | | | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2704T
c.C2830T
c.C2803T
c.C2962T
c.C2989T | p.R902X
p.R944X
p.R935X
p.R988X
p.R997X | 41.0 | - | Mahjani2021
E
| |
| POGZ
| Mahjani2021:11 | chr1:
151396443-151396444 | CT | C | exonic | | | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.1219delA
c.1345delA
c.1318delA
c.1477delA
c.1504delA | p.R407fs
p.R449fs
p.R440fs
p.R493fs
p.R502fs | - | - | Mahjani2021
E
| |
| POGZ
| Mahjani2021:10 | chr1:
151395971-151395971 | T | C | exonic | | | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A1295G
c.A1421G
c.A1394G
c.A1553G
c.A1580G | p.D432G
p.D474G
p.D465G
p.D518G
p.D527G | 28.6 | - | Mahjani2021
E
| |
| POGZ
| JASD_Fam0054 | chr1:
151378393-151378393 | C | T | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2833A
c.G2959A
c.G2932A
c.G3091A
c.G3118A | p.E945K
p.E987K
p.E978K
p.E1031K
p.E1040K | 21.3 | - | Takata2018
E
| |
| POGZ
| M19813 | chr1:
151402109-151402109 | G | A | exonic | | De novo | stopgain | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C379T
c.C379T
c.C538T
c.C538T | p.Q127X
p.Q127X
p.Q180X
p.Q180X | 37.0 | - | Guo2018
T
Stessman2017
T
Stessman2017
T
Wang2016
T
| |
| POGZ
| 1684001 | chr1:
151380626-151380630 | CAGAG | C | exonic | | De novo | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.2036_2039del
c.2162_2165del
c.2135_2138del
c.2294_2297del
c.2321_2324del | p.S679fs
p.S721fs
p.S712fs
p.S765fs
p.S774fs | - | - | Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| ACGC_M21572 | chr1:
151379747-151379747 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A | p.S704N
p.S746N
p.S737N
p.S790N
p.S799N | 32.0 | - | Wang2020
T
| |
| POGZ
| ACGC_M21552 | chr1:
151379747-151379747 | C | T | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A | p.S704N
p.S746N
p.S737N
p.S790N
p.S799N | 32.0 | - | Wang2020
T
| |
| POGZ
| M23639 | chr1:
151379390-151379390 | G | A | exonic | | Maternal, Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2257T
c.C2383T
c.C2356T
c.C2515T
c.C2542T | p.R753W
p.R795W
p.R786W
p.R839W
p.R848W | 25.9 | 8.265E-6 | Guo2018
T
Stessman2017
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| 80001103266 | chr1:
151378053-151378055 | CCT | C | exonic | | De novo | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del | p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| SAGE_563.03 | chr1:
151378489-151378489 | G | A | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T | p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X | 41.0 | - | Wang2020
T
| |
| POGZ
| 215-13144-1613 | chr1:
151396736-151396736 | G | T | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C927A
c.C1053A
c.C1026A
c.C1185A
c.C1212A | p.Y309X
p.Y351X
p.Y342X
p.Y395X
p.Y404X | 36.0 | - | Stessman2017
T
Stessman2017
T
| |
| POGZ
| SP0042394 | chr1:
151378053-151378055 | CCT | C | exonic | | De novo | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del | p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs | - | - | Feliciano2019
E
Fu2022
E
Zhou2022
GE
| |
| POGZ
| SP0054512 | chr1:
151381039-151381039 | G | A | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1795T
c.C1921T
c.C1894T
c.C2053T
c.C2080T | p.R599X
p.R641X
p.R632X
p.R685X
p.R694X | 39.0 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| SP0054513 | chr1:
151381039-151381039 | G | A | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C1795T
c.C1921T
c.C1894T
c.C2053T
c.C2080T | p.R599X
p.R641X
p.R632X
p.R685X
p.R694X | 39.0 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| 03C16571 | chr1:
151395941-151395941 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1325A
c.G1451A
c.G1424A
c.G1583A
c.G1610A | p.R442H
p.R484H
p.R475H
p.R528H
p.R537H | 35.0 | - | Stessman2017
T
| |
| POGZ
| 2-1210-003 | chr1:
151382386-151382386 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| POGZ
| 80001102176 | chr1:
151377821-151377822 | AC | A | exonic | | De novo | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3404delG
c.3530delG
c.3503delG
c.3662delG
c.3689delG | p.C1135fs
p.C1177fs
p.C1168fs
p.C1221fs
p.C1230fs | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| POGZ
| SP0165881 | chr1:
151377710-151377719 | GCATACATCT | G | exonic | | | nonframeshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3507_3515del
c.3633_3641del
c.3606_3614del
c.3765_3773del
c.3792_3800del | p.1169_1172del
p.1211_1214del
p.1202_1205del
p.1255_1258del
p.1264_1267del | - | - | Zhou2022
GE
| |
| POGZ
| SP0200117 | chr1:
151377456-151377456 | G | GA | exonic | | De novo | frameshift insertion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.3769dupT
c.3895dupT
c.3868dupT
c.4027dupT
c.4054dupT | p.S1257fs
p.S1299fs
p.S1290fs
p.S1343fs
p.S1352fs | - | - | Trost2022
G
Zhou2022
GE
| |
| POGZ
| Li2017:19813 | chr1:
151402109-151402109 | G | A | exonic | | De novo | stopgain | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C379T
c.C379T
c.C538T
c.C538T | p.Q127X
p.Q127X
p.Q180X
p.Q180X | 37.0 | - | Li2017
T
| |
| POGZ
| AGRE_03C16571 | chr1:
151395941-151395941 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1325A
c.G1451A
c.G1424A
c.G1583A
c.G1610A | p.R442H
p.R484H
p.R475H
p.R528H
p.R537H | 35.0 | - | Wang2020
T
| |
| POGZ
| SP0156911 | chr1:
151378489-151378489 | G | A | exonic | | | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T | p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X | 41.0 | - | Zhou2022
GE
| |
| POGZ
| ACGC_M23639 | chr1:
151379390-151379390 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2257T
c.C2383T
c.C2356T
c.C2515T
c.C2542T | p.R753W
p.R795W
p.R786W
p.R839W
p.R848W | 25.9 | 8.265E-6 | Wang2020
T
| |
| POGZ
| Leuven2_61678835 | chr1:
151380947-151380947 | A | AG | exonic | | Unknown | frameshift insertion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.1886dupC
c.2012dupC
c.1985dupC
c.2144dupC
c.2171dupC | p.P629fs
p.P671fs
p.P662fs
p.P715fs
p.P724fs | - | - | Wang2020
T
| |
| POGZ
| Leuven2_61525374 | chr1:
151379739-151379740 | AC | A | exonic | | Unknown | frameshift deletion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.2118delG
c.2244delG
c.2217delG
c.2376delG
c.2403delG | p.K706fs
p.K748fs
p.K739fs
p.K792fs
p.K801fs | - | - | Wang2020
T
| |
| POGZ
| Leuven2_85165553 | chr1:
151378087-151378087 | G | A | exonic | | Unknown | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C3139T
c.C3265T
c.C3238T
c.C3397T
c.C3424T | p.R1047X
p.R1089X
p.R1080X
p.R1133X
p.R1142X | 41.0 | - | Wang2020
T
| |
| POGZ
| Wang2023:498 | chr1:
151400680-151400680 | T | G | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A493C
c.A619C
c.A619C
c.A778C
c.A778C | p.T165P
p.T207P
p.T207P
p.T260P
p.T260P | 11.79 | - | Wang2023
E
| |
| POGZ
| M19757 | chr1:
151377304-151377304 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G3922A
c.G4048A
c.G4021A
c.G4180A
c.G4207A | p.A1308T
p.A1350T
p.A1341T
p.A1394T
p.A1403T | 14.31 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| HN0041.p1 | chr1:
151377469-151377469 | C | G | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G3757C
c.G3883C
c.G3856C
c.G4015C
c.G4042C | p.E1253Q
p.E1295Q
p.E1286Q
p.E1339Q
p.E1348Q | 19.38 | 8.238E-6 | Zhao2019
T
| |
| POGZ
| HEN0014.p1 | chr1:
151377631-151377631 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.T3595C
c.T3721C
c.T3694C
c.T3853C
c.T3880C | p.S1199P
p.S1241P
p.S1232P
p.S1285P
p.S1294P | 13.24 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| M16111 | chr1:
151377379-151377379 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3847C
c.A3973C
c.A3946C
c.A4105C
c.A4132C | p.T1283P
p.T1325P
p.T1316P
p.T1369P
p.T1378P | 9.951 | - | Guo2018
T
Zhao2019
T
| |
| POGZ
| M23646 | chr1:
151377422-151377422 | A | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.T3804G
c.T3930G
c.T3903G
c.T4062G
c.T4089G | p.H1268Q
p.H1310Q
p.H1301Q
p.H1354Q
p.H1363Q | 0.015 | 0.0014 | Zhao2019
T
| |
| POGZ
| M08095 | chr1:
151377739-151377739 | T | A | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3487T
c.A3613T
c.A3586T
c.A3745T
c.A3772T | p.S1163C
p.S1205C
p.S1196C
p.S1249C
p.S1258C | 13.22 | - | Zhao2019
T
| |
| POGZ
| M20274 | chr1:
151377852-151377852 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G | p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R | 15.53 | 4.951E-5 | Wang2016
T
Zhao2019
T
| |
| POGZ
| M26851 | chr1:
151377705-151377705 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3521G
c.A3647G
c.A3620G
c.A3779G
c.A3806G | p.K1174R
p.K1216R
p.K1207R
p.K1260R
p.K1269R | 13.37 | - | Zhao2019
T
| |
| POGZ
| M26786 | chr1:
151377709-151377709 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3517G
c.A3643G
c.A3616G
c.A3775G
c.A3802G | p.I1173V
p.I1215V
p.I1206V
p.I1259V
p.I1268V | 12.04 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| 10C102646 | chr1:
151379469-151379469 | G | GGTAC | exonic | | Unknown, De novo | frameshift insertion | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.2177_2178insGTAC
c.2303_2304insGTAC
c.2276_2277insGTAC
c.2435_2436insGTAC
c.2462_2463insGTAC | p.T726fs
p.T768fs
p.T759fs
p.T812fs
p.T821fs | - | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Neale2012
E
Satterstrom2020
E
Trost2022
G
Wang2020
T
Willsey2013
E
Zhao2019
T
Zhou2022
GE
| |
| POGZ
| GX0128.p1 | chr1:
151377852-151377852 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G | p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R | 15.53 | 4.951E-5 | Zhao2019
T
| |
| POGZ
| M21572 | chr1:
151377852-151377852 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G | p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R | 15.53 | 4.951E-5 | Zhao2019
T
| |
| POGZ
| GX0276.p1 | chr1:
151377852-151377852 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G | p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R | 15.53 | 4.951E-5 | Zhao2019
T
| |
| POGZ
| MSSNG00396-003 | chr1:
151378697-151378697 | T | C | exonic | | De novo | synonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A2529G
c.A2655G
c.A2628G
c.A2787G
c.A2814G | p.E843E
p.E885E
p.E876E
p.E929E
p.E938E | - | 3.296E-5 | Trost2022
G
Zhou2022
GE
| |
| POGZ
| GX0294.p1 | chr1:
151377852-151377852 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G | p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R | 15.53 | 4.951E-5 | Zhao2019
T
| |
| POGZ
| M32125 | chr1:
151377904-151377904 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G3322A
c.G3448A
c.G3421A
c.G3580A
c.G3607A | p.E1108K
p.E1150K
p.E1141K
p.E1194K
p.E1203K | 18.17 | 2.474E-5 | Zhao2019
T
| |
| POGZ
| M03783 | chr1:
151377952-151377952 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C3274T
c.C3400T
c.C3373T
c.C3532T
c.C3559T | p.P1092S
p.P1134S
p.P1125S
p.P1178S
p.P1187S | 16.31 | 2.471E-5 | Zhao2019
T
| |
| POGZ
| HN0070.p1 | chr1:
151377852-151377852 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G | p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R | 15.53 | 4.951E-5 | Zhao2019
T
| |
| POGZ
| GX0179.p1 | chr1:
151377852-151377852 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G | p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R | 15.53 | 4.951E-5 | Zhao2019
T
| |
| POGZ
| M08512 | chr1:
151378168-151378168 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G | p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E | 15.21 | 5.766E-5 | Wang2016
T
Zhao2019
T
| |
| POGZ
| HEN0293.p1 | chr1:
151378168-151378168 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G | p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E | 15.21 | 5.766E-5 | Zhao2019
T
| |
| POGZ
| 219-2320-0001 | chr1:
151381250-151381250 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G1696A
c.G1822A
c.G1795A
c.G1954A
c.G1981A | p.D566N
p.D608N
p.D599N
p.D652N
p.D661N | 33.0 | - | Stessman2017
T
| |
| POGZ
| M08079 | chr1:
151378123-151378123 | A | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.T3103G
c.T3229G
c.T3202G
c.T3361G
c.T3388G | p.L1035V
p.L1077V
p.L1068V
p.L1121V
p.L1130V | 1.979 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| MT_183.3 | chr1:
151408365-151408365 | A | AT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| POGZ
| GX0537.p1 | chr1:
151378138-151378138 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A3088G
c.A3214G
c.A3187G
c.A3346G
c.A3373G | p.I1030V
p.I1072V
p.I1063V
p.I1116V
p.I1125V | 2.904 | - | Zhao2019
T
| |
| POGZ
| M12393 | chr1:
151378168-151378168 | G | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G | p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E | 15.21 | 5.766E-5 | Zhao2019
T
| |
| POGZ
| HN0067.p1 | chr1:
151378395-151378395 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A | p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H | 19.5 | 4.119E-5 | Zhao2019
T
| |
| POGZ
| SSC08531 | chr1:
151378489-151378489 | G | A | exonic | | De novo | stopgain | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T | p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X | 41.0 | - | Fu2022
E
Lim2017
E
Trost2022
G
| |
| POGZ
| MSSNG00067-003 | chr1:
151403208-151403208 | G | GA | exonic | | De novo | frameshift insertion | NM_207171
NM_001194938
NM_001194937
NM_015100 | c.233dupT
c.233dupT
c.392dupT
c.392dupT | p.V78fs
p.V78fs
p.V131fs
p.V131fs | - | - | Trost2022
G
Zhou2022
GE
| |
| POGZ
| P1381 | chr1:
151378386-151378386 | T | C | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A2840G
c.A2966G
c.A2939G
c.A3098G
c.A3125G | p.Q947R
p.Q989R
p.Q980R
p.Q1033R
p.Q1042R | 18.27 | - | Hashimoto2016
E
Wang2020
T
Zhao2019
T
| |
| POGZ
| M32122 | chr1:
151378168-151378168 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G | p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E | 15.21 | 5.766E-5 | Zhao2019
T
| |
| POGZ
| Lim2017:36855 | chr1:
151384237-151384237 | T | C | exonic | | De novo | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A1505G
c.A1631G
c.A1604G
c.A1763G
c.A1790G | p.Y502C
p.Y544C
p.Y535C
p.Y588C
p.Y597C | 16.85 | - | Lim2017
E
| |
| POGZ
| M12437 | chr1:
151378168-151378168 | G | C | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G | p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E | 15.21 | 5.766E-5 | Zhao2019
T
| |
| POGZ
| GX0134.p1 | chr1:
151378806-151378806 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2420T
c.C2546T
c.C2519T
c.C2678T
c.C2705T | p.T807I
p.T849I
p.T840I
p.T893I
p.T902I | 5.976 | - | Zhao2019
T
| |
| POGZ
| HEN0280.p1 | chr1:
151378903-151378903 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2323A
c.G2449A
c.G2422A
c.G2581A
c.G2608A | p.V775M
p.V817M
p.V808M
p.V861M
p.V870M | 11.24 | 2.694E-5 | Guo2018
T
Zhao2019
T
| |
| POGZ
| M08734 | chr1:
151378395-151378395 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A | p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H | 19.5 | 4.119E-5 | Zhao2019
T
| |
| POGZ
| M20585 | chr1:
151378719-151378719 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.C2507T
c.C2633T
c.C2606T
c.C2765T
c.C2792T | p.P836L
p.P878L
p.P869L
p.P922L
p.P931L | 11.55 | 5.789E-5 | Zhao2019
T
| |
| POGZ
| M12403 | chr1:
151379096-151379096 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.A2272G
c.A2398G
c.A2371G
c.A2530G
c.A2557G | p.I758V
p.I800V
p.I791V
p.I844V
p.I853V | 12.9 | 2.485E-5 | Guo2018
T
Zhao2019
T
| |
| POGZ
| M21572 | chr1:
151379747-151379747 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A | p.S704N
p.S746N
p.S737N
p.S790N
p.S799N | 32.0 | - | Guo2018
T
Wang2016
T
Zhao2019
T
| |
| POGZ
| MT_151.3 | chr1:
151420935-151420935 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| POGZ
| HN0044.p1 | chr1:
151378903-151378903 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2323A
c.G2449A
c.G2422A
c.G2581A
c.G2608A | p.V775M
p.V817M
p.V808M
p.V861M
p.V870M | 11.24 | 2.694E-5 | Guo2018
T
Zhao2019
T
| |
| POGZ
| M17529 | chr1:
151378920-151378920 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100 | c.G2306A
c.G2432A
c.G2405A
c.G2564A
c.G2591A | p.R769Q
p.R811Q
p.R802Q
p.R855Q
p.R864Q | 26.3 | 1.798E-5 | Guo2018
T
Wang2016
T
Zhao2019
T
| |