GIGYF2
| AC05-0021-04 | chr2:
233684582-233684582 | C | T | exonic | | De novo | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C2398T
c.C2416T
c.C2479T
c.C2416T | p.R800X
p.R806X
p.R827X
p.R806X | 40.0 | - | Fu2022
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| GIGYF2
| ACGC_M15067 | chr2:
233709077-233709089 | AGCATTCCAACCT | A | exonic | | Unknown | frameshift deletion | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.3082_3092del
c.3100_3110del
c.3163_3173del
c.3100_3110del | p.H1028fs
p.H1034fs
p.H1055fs
p.H1034fs | - | - | Wang2020
T
| |
| GIGYF2
| M08308 | chr2:
233675964-233675964 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G1891A
c.G1909A
c.G1972A
c.G1909A | p.A631T
p.A637T
p.A658T
p.A637T | 13.45 | - | Guo2018
T
| |
| GIGYF2
| M23762 | chr2:
233655745-233655745 | G | T | exonic | | De novo | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G940T
c.G958T
c.G1024T
c.G958T | p.E314X
p.E320X
p.E342X
p.E320X | 34.0 | - | Guo2018
T
Stessman2017
T
Stessman2017
T
Wang2016
T
| |
| GIGYF2
| HN0190.p1 | chr2:
233709178-233709178 | A | G | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A3181G
c.A3199G
c.A3262G
c.A3199G | p.S1061G
p.S1067G
p.S1088G
p.S1067G | 5.667 | 8.243E-6 | Guo2018
T
| |
| GIGYF2
| HEN0158.p1 | chr2:
233675961-233675961 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.T1888C
c.T1906C
c.T1969C
c.T1906C | p.Y630H
p.Y636H
p.Y657H
p.Y636H | 14.24 | 8.254E-6 | Guo2018
T
| |
| GIGYF2
| ACGC_M15185 | chr2:
233677147-233677147 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2035A
c.G2053A
c.G2116A
c.G2053A | p.V679M
p.V685M
p.V706M
p.V685M | 17.91 | 1.652E-5 | Wang2020
T
| |
| GIGYF2
| 2-0110-003 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| ACGC_M17539 | chr2:
233677147-233677147 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2035A
c.G2053A
c.G2116A
c.G2053A | p.V679M
p.V685M
p.V706M
p.V685M | 17.91 | 1.652E-5 | Wang2020
T
| |
| GIGYF2
| M15217 | chr2:
233655527-233655527 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A814G
c.A832G
c.A898G
c.A832G | p.I272V
p.I278V
p.I300V
p.I278V | 9.871 | 2.0E-4 | Wang2016
T
| |
| GIGYF2
| M19744 | chr2:
233656136-233656136 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A1244G
c.A1262G
c.A1325G
c.A1262G | p.K415R
p.K421R
p.K442R
p.K421R | 11.42 | 7.83E-5 | Wang2016
T
| |
| GIGYF2
| SSC08593 | chr2:
233712061-233712061 | C | G | exonic | | De novo | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C3446G
c.C3464G
c.C3527G
c.C3464G | p.P1149R
p.P1155R
p.P1176R
p.P1155R | 23.4 | - | Fu2022
E
Trost2022
G
| |
| GIGYF2
| 14533.p1 | chr2:
233675982-233675982 | C | T | exonic | | De novo | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C1909T
c.C1927T
c.C1990T
c.C1927T | p.Q637X
p.Q643X
p.Q664X
p.Q643X | 37.0 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Zhou2022
GE
| |
| GIGYF2
| M15185 | chr2:
233677147-233677147 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2035A
c.G2053A
c.G2116A
c.G2053A | p.V679M
p.V685M
p.V706M
p.V685M | 17.91 | 1.652E-5 | Guo2018
T
Wang2016
T
| |
| GIGYF2
| 36806 | chr2:
233675982-233675982 | C | T | exonic | | De novo | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C1909T
c.C1927T
c.C1990T
c.C1927T | p.Q637X
p.Q643X
p.Q664X
p.Q643X | 37.0 | - | Fu2022
E
Trost2022
G
| |
| GIGYF2
| M27812 | chr2:
233659563-233659563 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G1370A
c.G1388A
c.G1451A
c.G1388A | p.R457Q
p.R463Q
p.R484Q
p.R463Q | 14.83 | 1.0E-4 | Guo2018
T
Wang2016
T
| |
| GIGYF2
| M20406 | chr2:
233704609-233704609 | G | C | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2799C
c.G2817C
c.G2880C
c.G2817C | p.Q933H
p.Q939H
p.Q960H
p.Q939H | 13.91 | - | Guo2018
T
Wang2016
T
| |
| GIGYF2
| 3-0484-000 | chr2:
233600118-233600118 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| 2-1547-003 | chr2:
233604004-233604004 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| M19802 | chr2:
233612356-233612356 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A73G
c.A73G
c.A73G
c.A73G | p.T25A
p.T25A
p.T25A
p.T25A | 14.1 | 5.0E-4 | Wang2016
T
| |
| GIGYF2
| 3-0541-000A | chr2:
233581529-233581529 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| M20250 | chr2:
233612356-233612356 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A73G
c.A73G
c.A73G
c.A73G | p.T25A
p.T25A
p.T25A
p.T25A | 14.1 | 5.0E-4 | Wang2016
T
| |
| GIGYF2
| 09C86398 | chr2:
233681583-233681583 | A | G | exonic | | De novo | synonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A2193G
c.A2211G
c.A2274G
c.A2211G | p.L731L
p.L737L
p.L758L
p.L737L | - | 1.652E-5 | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| GIGYF2
| REACH000150 | chr2:
233585228-233585228 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| M12526 | chr2:
233704659-233704659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2849A
c.G2867A
c.G2930A
c.G2867A | p.R950Q
p.R956Q
p.R977Q
p.R956Q | 36.0 | 4.135E-5 | Guo2018
T
Wang2016
T
| |
| GIGYF2
| AU4029302 | chr2:
233682583-233682583 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| M31959 | chr2:
233659479-233659479 | A | G | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A1286G
c.A1304G
c.A1367G
c.A1304G | p.Q429R
p.Q435R
p.Q456R
p.Q435R | 12.71 | - | Guo2018
T
| |
| GIGYF2
| 1-0556-003 | chr2:
233676246-233676246 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| GX0527.p1 | chr2:
233704620-233704620 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C2810T
c.C2828T
c.C2891T
c.C2828T | p.T937M
p.T943M
p.T964M
p.T943M | 18.74 | - | Guo2018
T
| |
| GIGYF2
| APP_108602-100 | chr2:
233655450-233655450 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G737A
c.G755A
c.G821A
c.G755A | p.R246H
p.R252H
p.R274H
p.R252H | 34.0 | - | Wang2020
T
| |
| GIGYF2
| 3-0454-000 | chr2:
233723313-233723317 | TTAAA | T | UTR3 | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| M32295 | chr2:
233659563-233659563 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G1370A
c.G1388A
c.G1451A
c.G1388A | p.R457Q
p.R463Q
p.R484Q
p.R463Q | 14.83 | 1.0E-4 | Guo2018
T
| |
| GIGYF2
| Leuven2_60066750 | chr2:
233655600-233655600 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C887T
c.C905T
c.C971T
c.C905T | p.S296L
p.S302L
p.S324L
p.S302L | 32.0 | - | Wang2020
T
| |
| GIGYF2
| 2-1562-003 | chr2:
233681118-233681140 | GCTGTTAAAACGTTATAGCCACA | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| 1-0720-003 | chr2:
233644702-233644702 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| 1-0756-003 | chr2:
233719432-233719433 | CA | AT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| REACH000735 | chr2:
233670392-233670392 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| 3-0530-000 | chr2:
233675611-233675611 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| GIGYF2
| M15067 | chr2:
233709077-233709089 | AGCATTCCAACCT | A | exonic | | Unknown | frameshift deletion | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.3082_3092del
c.3100_3110del
c.3163_3173del
c.3100_3110del | p.H1028fs
p.H1034fs
p.H1055fs
p.H1034fs | - | - | Guo2018
T
Wang2016
T
| |
| GIGYF2
| 2-1408-004 | chr2:
233620306-233620306 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| M21301 | chr2:
233671257-233671257 | T | G/T | exonic | | Maternal | | | | | - | - | Guo2018
T
| |
| GIGYF2
| M08641 | chr2:
233613755-233613755 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C230T
c.C230T
c.C230T
c.C230T | p.P77L
p.P77L
p.P77L
p.P77L | 3.17 | - | Guo2018
T
| |
| GIGYF2
| Leuven_320515 | chr2:
233655446-233655446 | C | T | exonic | | Unknown | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C733T
c.C751T
c.C817T
c.C751T | p.R245X
p.R251X
p.R273X
p.R251X | 37.0 | - | Wang2020
T
| |
| GIGYF2
| SP0139659 | chr2:
233704620-233704620 | C | T | exonic | | | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C2810T
c.C2828T
c.C2891T
c.C2828T | p.T937M
p.T943M
p.T964M
p.T943M | 18.74 | - | Zhou2022
GE
| |
| GIGYF2
| ASDFI_1650 | chr2:
233704659-233704659 | G | A | exonic | | Unknown, De novo | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2849A
c.G2867A
c.G2930A
c.G2867A | p.R950Q
p.R956Q
p.R977Q
p.R956Q | 36.0 | 4.135E-5 | DeRubeis2014
E
Kosmicki2017
E
Lim2017
E
Wang2020
T
Zhou2022
GE
| |
| GIGYF2
| 2-1501-003 | chr2:
233682815-233682815 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| 08C77632 | chr2:
233677165-233677165 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A2053G
c.A2071G
c.A2134G
c.A2071G | p.I685V
p.I691V
p.I712V
p.I691V | 12.32 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| GIGYF2
| Lim2017:36806 | chr2:
233675982-233675982 | C | T | exonic | | De novo | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C1909T
c.C1927T
c.C1990T
c.C1927T | p.Q637X
p.Q643X
p.Q664X
p.Q643X | 37.0 | - | Lim2017
E
| |
| GIGYF2
| M17539 | chr2:
233677147-233677147 | G | A/G | exonic | | Maternal | | | | | - | - | Guo2018
T
| |
| GIGYF2
| SP0032114 | chr2:
233600694-233600694 | T | C | intronic | | De novo | | | | | - | - | Fu2022
E
Trost2022
G
| |
| GIGYF2
| M08563 | chr2:
233676047-233676047 | G | C/G | exonic | | Maternal | | | | | - | - | Guo2018
T
| |
| GIGYF2
| M17637 | chr2:
233655615-233655615 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.T902G
c.T920G
c.T986G
c.T920G | p.L301R
p.L307R
p.L329R
p.L307R | 18.2 | 8.241E-5 | Wang2016
T
| |
| GIGYF2
| M21566 | chr2:
233671257-233671257 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.T1678G
c.T1696G
c.T1759G
c.T1696G | p.S560A
p.S566A
p.S587A
p.S566A | 17.8 | 8.237E-6 | Guo2018
T
Wang2016
T
| |
| GIGYF2
| 3-0392-000 | chr2:
233731449-233731449 | A | C | intergenic | | De novo | | | | | - | - | Yuen2016
G
| |
| GIGYF2
| SSC12556 | chr2:
233675982-233675982 | C | T | exonic | | | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C1909T
c.C1927T
c.C1990T
c.C1927T | p.Q637X
p.Q643X
p.Q664X
p.Q643X | 37.0 | - | Antaki2022
GE
| |
| GIGYF2
| ACGC_GZ0003.p1 | chr2:
233626107-233626107 | G | T | exonic | | Unknown | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G493T
c.G493T
c.G493T
c.G493T | p.G165C
p.G165C
p.G165C
p.G165C | 21.0 | 8.283E-6 | Wang2020
T
| |
| GIGYF2
| ACGC_M15008 | chr2:
233659562-233659562 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C1369T
c.C1387T
c.C1450T
c.C1387T | p.R457W
p.R463W
p.R484W
p.R463W | 19.37 | 1.648E-5 | Wang2020
T
| |
| GIGYF2
| SAGE_TIGER_90044-201 | chr2:
233660821-233660821 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A1511G
c.A1529G
c.A1592G
c.A1529G | p.E504G
p.E510G
p.E531G
p.E510G | 32.0 | - | Wang2020
T
| |
| GIGYF2
| M8308 | chr2:
233675964-233675964 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G1891A
c.G1909A
c.G1972A
c.G1909A | p.A631T
p.A637T
p.A658T
p.A637T | 13.45 | - | Wang2016
T
| |
| GIGYF2
| ACGC_M23762 | chr2:
233655745-233655745 | G | T | exonic | | De novo | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G940T
c.G958T
c.G1024T
c.G958T | p.E314X
p.E320X
p.E342X
p.E320X | 34.0 | - | Wang2020
T
| |
| GIGYF2
| M8641 | chr2:
233613755-233613755 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C230T
c.C230T
c.C230T
c.C230T | p.P77L
p.P77L
p.P77L
p.P77L | 3.17 | - | Wang2016
T
| |
| GIGYF2
| M23679 | chr2:
233671353-233671353 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C1774T
c.C1792T
c.C1855T
c.C1792T | p.P592S
p.P598S
p.P619S
p.P598S | 22.7 | - | Guo2018
T
Wang2016
T
| |
| GIGYF2
| AU3703302 | chr2:
233604531-233604531 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| GIGYF2
| M15196 | chr2:
233712060-233712060 | C | A | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C3445A
c.C3463A
c.C3526A
c.C3463A | p.P1149T
p.P1155T
p.P1176T
p.P1155T | 23.9 | 3.0E-4 | Wang2016
T
| |
| GIGYF2
| HN0144.p1 | chr2:
233671353-233671353 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C1774T
c.C1792T
c.C1855T
c.C1792T | p.P592S
p.P598S
p.P619S
p.P598S | 22.7 | - | Guo2018
T
| |
| GIGYF2
| GX0552.p1 | chr2:
233671311-233671311 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A1732G
c.A1750G
c.A1813G
c.A1750G | p.M578V
p.M584V
p.M605V
p.M584V | 18.9 | - | Guo2018
T
| |
| GIGYF2
| HEN0100.p1 | chr2:
233681692-233681692 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2302A
c.G2320A
c.G2383A
c.G2320A | p.E768K
p.E774K
p.E795K
p.E774K | 16.15 | - | Guo2018
T
| |
| GIGYF2
| HEN0297.p1 | chr2:
233677147-233677147 | G | A/G | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| GIGYF2
| 13611.p1 | chr2:
233712061-233712061 | C | G | exonic | | De novo | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C3446G
c.C3464G
c.C3527G
c.C3464G | p.P1149R
p.P1155R
p.P1176R
p.P1155R | 23.4 | - | Ji2016
E
Krumm2015
E
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Zhou2022
GE
| |
| GIGYF2
| GX0287.p1 | chr2:
233655725-233655725 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A920G
c.A938G
c.A1004G
c.A938G | p.Q307R
p.Q313R
p.Q335R
p.Q313R | 17.1 | - | Guo2018
T
| |
| GIGYF2
| 320515 | chr2:
233655446-233655446 | C | T | exonic | | Inherited | stopgain | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C733T
c.C751T
c.C817T
c.C751T | p.R245X
p.R251X
p.R273X
p.R251X | 37.0 | - | Stessman2017
T
| |
| GIGYF2
| M31863 | chr2:
233709178-233709178 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A3181G
c.A3199G
c.A3262G
c.A3199G | p.S1061G
p.S1067G
p.S1088G
p.S1067G | 5.667 | 8.243E-6 | Guo2018
T
| |
| GIGYF2
| GX0022.p1 | chr2:
233681597-233681597 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G2207A
c.G2225A
c.G2288A
c.G2225A | p.R736K
p.R742K
p.R763K
p.R742K | 11.78 | 8.255E-6 | Guo2018
T
| |
| GIGYF2
| TASC_210-18178-301 | chr2:
233612432-233612432 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C149T
c.C149T
c.C149T
c.C149T | p.A50V
p.A50V
p.A50V
p.A50V | 35.0 | - | Wang2020
T
| |
| GIGYF2
| AGRE_AU2487301 | chr2:
233612432-233612432 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.C149T
c.C149T
c.C149T
c.C149T | p.A50V
p.A50V
p.A50V
p.A50V | 35.0 | - | Wang2020
T
| |
| GIGYF2
| AU3984301 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| M30940 | chr2:
233715059-233715059 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.G3754C
c.G3772C
c.G3835C
c.G3772C | p.V1252L
p.V1258L
p.V1279L
p.V1258L | 17.53 | - | Guo2018
T
| |
| GIGYF2
| 1-0971-003 | chr2:
233655935-233655935 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| GIGYF2
| M01903 | chr2:
233659563-233659563 | G | A/G | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| GIGYF2
| M26843 | chr2:
233656136-233656136 | A | G | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A1244G
c.A1262G
c.A1325G
c.A1262G | p.K415R
p.K421R
p.K442R
p.K421R | 11.42 | 7.83E-5 | Wang2016
T
| |
| GIGYF2
| M1763 | chr2:
233612356-233612356 | A | G | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A73G
c.A73G
c.A73G
c.A73G | p.T25A
p.T25A
p.T25A
p.T25A | 14.1 | 5.0E-4 | Wang2016
T
| |
| GIGYF2
| M2213 | chr2:
233655527-233655527 | A | G | exonic | | Maternal | nonsynonymous SNV | NM_001103148
NM_001103146
NM_001103147
NM_015575 | c.A814G
c.A832G
c.A898G
c.A832G | p.I272V
p.I278V
p.I300V
p.I278V | 9.871 | 2.0E-4 | Wang2016
T
| |