PTPRN2
| AU3885305 | chr7:
158004719-158004719 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 14271.p1 | chr7:
157709768-157709768 | T | C | intronic | | De novo | | | | | - | - | Wilfert2021
G
| |
| PTPRN2
| 7-0100-004 | chr7:
157802874-157802874 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 1-0181-004 | chr7:
157820281-157820281 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU3912301 | chr7:
158073853-158073853 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 1-0222-003 | chr7:
157794970-157794970 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 12441.p1 | chr7:
157414064-157414064 | G | GGCCAGTTTCCACCGCCCGTAACCCAGGCTTCCTGCCCCCAGGGCTGGTACGTACAGGTCAGCACA | exonic | | De novo | frameshift insertion | NM_001308267
NM_130842
NM_130843
NM_001308268
NM_002847 | c.2219_2220insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2282_2283insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2246_2247insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2402_2403insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2333_2334insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC | p.A740fs
p.A761fs
p.A749fs
p.A801fs
p.A778fs | - | 8.664E-6 | Satterstrom2020
E
| |
| PTPRN2
| AU0452303 | chr7:
158055866-158055866 | A | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 1-0433-004 | chr7:
157741901-157741901 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU1640302 | chr7:
158316353-158316359 | AGTCGTC | AGTC | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 12510.p1 | chr7:
158109533-158109533 | C | T | exonic | | De novo | synonymous SNV | NM_130842
NM_001308268
NM_002847
NM_130843 | c.G204A
c.G324A
c.G255A
c.G255A | p.A68A
p.A108A
p.A85A
p.A85A | - | 7.118E-5 | Iossifov2012
E
Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
Zhou2022
GE
| |
| PTPRN2
| 1-0372-003 | chr7:
157726545-157726545 | A | G | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 1-0372-003 | chr7:
157726541-157726541 | A | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| AU4234303 | chr7:
157369557-157369557 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU3846302 | chr7:
158310998-158310998 | A | G | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 2-1368-003 | chr7:
158314629-158314629 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| AU3263302 | chr7:
157925706-157925706 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-1235-004 | chr7:
157569694-157569694 | T | C | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 1-0627-005 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-1459-003 | chr7:
158348346-158348346 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU4056301 | chr7:
157496674-157496674 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| MT_82.3 | chr7:
157347473-157347473 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-0009-003 | chr7:
157352801-157352801 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU079204 | chr7:
158181253-158181253 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 3-0371-000 | chr7:
157388092-157388092 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-0003-004 | chr7:
157978939-157978939 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU2194301 | chr7:
157396639-157396639 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0756-004 | chr7:
157379876-157379877 | AT | GCAGACAGGCAGAC | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0756-004 | chr7:
157379902-157379902 | G | GGC | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0146-000 | chr7:
157375486-157375487 | AA | TG | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 4-0096-003 | chr7:
157377812-157377812 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-1160-003 | chr7:
157369184-157369184 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0146-000 | chr7:
157375480-157375481 | CT | TG | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00067-003 | chr7:
157413963-157413963 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00408-003 | chr7:
157413963-157413963 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0740-000A | chr7:
157413963-157413963 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00018-003 | chr7:
157413963-157413963 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1169-004 | chr7:
157400446-157400447 | TT | AAA | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MT_184.3 | chr7:
157410513-157410513 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0197-004 | chr7:
157400441-157400441 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0197-004 | chr7:
157400446-157400447 | TT | AAA | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00229-003 | chr7:
157494772-157494772 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0654-003 | chr7:
157517348-157517348 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1152-003 | chr7:
157490538-157490538 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0286-004A | chr7:
157494184-157494184 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| REACH000141 | chr7:
157442188-157442188 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SP0224540 | chr7:
157449141-157449141 | T | C | exonic | | De novo | nonsynonymous SNV | NM_001308267
NM_130842
NM_130843
NM_001308268
NM_002847 | c.A1990G
c.A2053G
c.A2017G
c.A2173G
c.A2104G | p.I664V
p.I685V
p.I673V
p.I725V
p.I702V | 5.251 | - | Trost2022
G
| |
| PTPRN2
| SSC05232 | chr7:
157414064-157414064 | G | GGCCAGTTTCCACCGCCCGTAACCCAGGCTTCCTGCCCCCAGGGCTGGTACGTACAGGTCAGCACA | exonic | | De novo | frameshift insertion | NM_001308267
NM_130842
NM_130843
NM_001308268
NM_002847 | c.2219_2220insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2282_2283insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2246_2247insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2402_2403insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2333_2334insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC | p.A740fs
p.A761fs
p.A749fs
p.A801fs
p.A778fs | - | 8.664E-6 | Trost2022
G
| |
| PTPRN2
| 3-0380-000 | chr7:
157420068-157420068 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0471-000 | chr7:
157540053-157540053 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0471-000 | chr7:
157540085-157540085 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00069-003 | chr7:
157526917-157526917 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3905301 | chr7:
157526923-157526923 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4199303 | chr7:
157987458-157987458 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU3371305 | chr7:
157517890-157517890 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4286302 | chr7:
158286036-158286044 | TACACACAC | TACAC | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 1-0485-003 | chr7:
157526917-157526917 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3371305 | chr7:
157517834-157517834 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0271-004 | chr7:
157406986-157406987 | CG | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU3371305 | chr7:
157517838-157517838 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0132-004 | chr7:
158239052-158239052 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| MSSNG00414-003 | chr7:
157640733-157640733 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-1038-003 | chr7:
157645202-157645202 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00359-003 | chr7:
157629829-157629829 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0367-003 | chr7:
157629879-157629879 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0640-000 | chr7:
157565937-157565937 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU1933301 | chr7:
157610898-157610900 | ATG | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-1200-003 | chr7:
157718917-157718917 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 200675254@1082034986 | chr7:
157959743-157959743 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843 | c.G676A
c.G739A
c.G859A
c.G790A
c.G790A | p.E226K
p.E247K
p.E287K
p.E264K
p.E264K | 11.93 | - | Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| PTPRN2
| MSSNG00017-003 | chr7:
157738968-157738968 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MT_195.4 | chr7:
157671259-157671259 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00002-003 | chr7:
157694255-157694255 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SP0016173 | chr7:
157985044-157985044 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843 | c.C410T
c.C473T
c.C593T
c.C524T
c.C524T | p.T137M
p.T158M
p.T198M
p.T175M
p.T175M | 1.389 | 2.0E-4 | Trost2022
G
Zhou2022
GE
| |
| PTPRN2
| AU4093304 | chr7:
157664306-157664307 | AT | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00357-003 | chr7:
157671259-157671259 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3302302 | chr7:
158334533-158334533 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-1347-003 | chr7:
157820308-157820308 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3937301 | chr7:
157838769-157838769 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0673-003 | chr7:
157793110-157793110 | C | CG | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-0039-003 | chr7:
157797097-157797097 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-0034-003 | chr7:
157782410-157782410 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4260303 | chr7:
157787327-157787327 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU2441301 | chr7:
157763063-157763063 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-5153-003 | chr7:
157774911-157774911 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AM04ZF-03 | chr7:
157864164-157864164 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00067-003 | chr7:
157866736-157866736 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| REACH000159 | chr7:
157864039-157864039 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1823-003 | chr7:
157864158-157864158 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| REACH000341 | chr7:
157860651-157860651 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1336-003 | chr7:
157861197-157861198 | AA | CCT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0292-003A | chr7:
157839462-157839462 | T | TA | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| REACH000514 | chr7:
157847496-157847496 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU071804 | chr7:
157880322-157880322 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3777302 | chr7:
157880322-157880322 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 11C120958 | chr7:
157367159-157367159 | C | T | intronic | | De novo | | | | | - | - | Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
| |
| PTPRN2
| 2-1806-003 | chr7:
157880322-157880322 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0393-000 | chr7:
157880322-157880322 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-1120-003 | chr7:
157880322-157880322 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4183301 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-1795-003 | chr7:
157880322-157880322 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0159-000 | chr7:
157873820-157873820 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0944-003 | chr7:
157880322-157880322 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-0034-003 | chr7:
157940448-157940448 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0373-003 | chr7:
157940462-157940462 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00362-003 | chr7:
157932401-157932401 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0357-004 | chr7:
157940391-157940391 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0543-000 | chr7:
157928550-157928550 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00369-005 | chr7:
157930554-157930554 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0122-003 | chr7:
158168962-158168962 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 1-0603-003 | chr7:
157903180-157903180 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SJD_52.3 | chr7:
157917391-157917391 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0312-000 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0339-000 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1386-003 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3889305 | chr7:
158286036-158286044 | TACACACAC | TACAC | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 2-1760-003 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0380-002 | chr7:
157941844-157941844 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1375-003 | chr7:
157748283-157748283 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| PTPRN2
| 2-1195-003 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3858302 | chr7:
157840720-157840720 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-1264-003 | chr7:
157940467-157940467 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0664-003A | chr7:
157941806-157941806 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00353-004 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MT_18.3 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4028302 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00023-003 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0328-003 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU072905 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0467-000 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Trost2022
G
| |
| PTPRN2
| 5-5177-003 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU031403 | chr7:
157951281-157951281 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4007301 | chr7:
157638303-157638303 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-0142-003 | chr7:
157957816-157957816 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4032307 | chr7:
157948318-157948318 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MT_170.3 | chr7:
157948935-157948935 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1356-003 | chr7:
157948318-157948318 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU2293301 | chr7:
157948318-157948318 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SJD_34.3 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SJD_65.3 | chr7:
157944203-157944203 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0549-003 | chr7:
158006336-158006336 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-0072-003 | chr7:
158016044-158016048 | GCAAA | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-1012-003 | chr7:
157982109-157982109 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3586303 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Trost2022
G
| |
| PTPRN2
| 3-0467-000 | chr7:
157958902-157958902 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SP0100680 | chr7:
157959609-157959609 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0142-003 | chr7:
157957822-157957822 | A | ACC | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00341-004 | chr7:
157958083-157958083 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0438-003 | chr7:
158079397-158079397 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3984301 | chr7:
157925880-157925880 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 4-0002-003 | chr7:
158085405-158085405 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU2193301 | chr7:
158066204-158066204 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0393-000 | chr7:
158069483-158069483 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00421-005 | chr7:
158063030-158063030 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0160-003 | chr7:
158064623-158064623 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1091-003 | chr7:
158048996-158048996 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SJD_49.4 | chr7:
158061018-158061018 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU2250301 | chr7:
158114021-158114022 | TC | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-1116-003 | chr7:
158123967-158123967 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AM03ZF-03 | chr7:
158107579-158107579 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00427-003 | chr7:
158107579-158107579 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-5004-003 | chr7:
158107579-158107579 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-5035-003 | chr7:
158107579-158107579 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0232-004 | chr7:
158105041-158105041 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 4-0004-003 | chr7:
158107579-158107579 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0016-003 | chr7:
158134595-158134595 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-1045-003 | chr7:
158135045-158135045 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-5005-003 | chr7:
158130408-158130408 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 12011.p1 | chr7:
157483577-157483577 | G | C | intronic | | De novo | | | | | - | - | Turner2016
G
| |
| PTPRN2
| MSSNG00255-003 | chr7:
158134035-158134035 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MT_17.3 | chr7:
158130336-158130336 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| SJD_65.3 | chr7:
158130336-158130336 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU028305 | chr7:
157467067-157467067 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 1-0417-003 | chr7:
158129064-158129064 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0466-000A | chr7:
158130336-158130336 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0467-000 | chr7:
158180228-158180228 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1442-003 | chr7:
157453697-157453697 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| PTPRN2
| AU1698302 | chr7:
158180246-158180246 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00363-003 | chr7:
158180215-158180215 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 3-0201-000 | chr7:
158180224-158180224 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00343-004 | chr7:
158139205-158139209 | CATCT | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0756-004 | chr7:
157383039-157383048 | AGACCCCTCT | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| MT_69.4 | chr7:
158166866-158166866 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00042-004 | chr7:
158135287-158135287 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00020-004 | chr7:
158138067-158138067 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0342-005 | chr7:
158207785-158207785 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU2186301 | chr7:
158234155-158234155 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MT_61.3 | chr7:
158180278-158180278 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 7-0342-004 | chr7:
158207785-158207785 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3763305 | chr7:
157812669-157812669 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| AU3053302 | chr7:
158180259-158180259 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0579-003 | chr7:
158180278-158180278 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| REACH000697 | chr7:
158180246-158180246 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0460-003 | chr7:
158180255-158180255 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4145303 | chr7:
158261573-158261573 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU4145303 | chr7:
158261595-158261595 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| Chen2017:88 | chr7:
157959743-157959743 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843 | c.G676A
c.G739A
c.G859A
c.G790A
c.G790A | p.E226K
p.E247K
p.E287K
p.E264K
p.E264K | 11.93 | - | Chen2017
E
| |
| PTPRN2
| 2-0320-003 | chr7:
158252467-158252467 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU3858303 | chr7:
157767003-157767003 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-0320-003 | chr7:
158252469-158252469 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00203-003 | chr7:
158234378-158234378 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU2320301 | chr7:
158248846-158248846 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| REACH000582 | chr7:
158234155-158234155 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-1086-003 | chr7:
158234378-158234378 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1342-003 | chr7:
158314682-158314682 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-1823-004 | chr7:
158346802-158346802 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0549-003 | chr7:
158303930-158303930 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 2-0296-003 | chr7:
157961752-157961752 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-0028-003 | chr7:
158314645-158314645 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 1-0202-003 | chr7:
158265374-158265374 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00375-003 | chr7:
158283310-158283310 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| MSSNG00435-003 | chr7:
158261761-158261761 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| AU2504301 | chr7:
158263670-158263670 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 08C71698 | chr7:
157929368-157929368 | G | A | exonic | | De novo | synonymous SNV | NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843 | c.C1038T
c.C1101T
c.C1221T
c.C1152T
c.C1152T | p.D346D
p.D367D
p.D407D
p.D384D
p.D384D | - | 6.0E-4 | Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| PTPRN2
| 2-1376-003 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| PTPRN2
| AU050604 | chr7:
157949191-157949191 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-0068-003 | chr7:
157854255-157854255 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 5-0091-003 | chr7:
158350449-158350449 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| PTPRN2
| 5-0105-003 | chr7:
157774602-157774602 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-1137-003 | chr7:
158132521-158132521 | A | G | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 2-0145-003 | chr7:
157859271-157859271 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| SP0059906 | chr7:
157903568-157903568 | G | A | exonic | | De novo | synonymous SNV | NM_001308267
NM_130842
NM_001308268
NM_002847 | c.C1482T
c.C1545T
c.C1665T
c.C1596T | p.D494D
p.D515D
p.D555D
p.D532D | - | 5.362E-5 | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| PTPRN2
| SP0040532 | chr7:
157997853-157997853 | C | T | intronic | | De novo | | | | | - | - | Fu2022
E
| |
| PTPRN2
| 1-0489-003 | chr7:
157415390-157415390 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| PTPRN2
| 1-0756-005 | chr7:
157383039-157383048 | AGACCCCTCT | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 2-1258-003 | chr7:
157586893-157586893 | C | CCTCCGACCCGGGCTCACACCTCCCCTCGTTCTCTG | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 1-0353-003 | chr7:
157564948-157564952 | CACAG | C | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| AU3368302 | chr7:
157404691-157404691 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| 1-1000-003 | chr7:
157570021-157570021 | A | G | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 7-0078-003 | chr7:
158255625-158255625 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| A28 | chr7:
157866319-157866319 | G | A | intronic | | De novo | | | | | - | - | Wu2018
G
| |
| PTPRN2
| iHART2624 | chr7:
157926370-157926374 | CTCTG | C | exonic | | Maternal | frameshift deletion | NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843 | c.1437_1440del
c.1500_1503del
c.1620_1623del
c.1551_1554del
c.1551_1554del | p.D479fs
p.D500fs
p.D540fs
p.D517fs
p.D517fs | - | 9.044E-6 | Ruzzo2019
G
| |
| PTPRN2
| 2-1382-003 | chr7:
157409801-157409801 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| PTPRN2
| 2-1731-003 | chr7:
158286036-158286044 | TACACACAC | TACAC | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| PTPRN2
| 7-0001-003 | chr7:
157352263-157352263 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| PTPRN2
| mAGRE2624 | chr7:
157926370-157926374 | CTCTG | C | exonic | | Maternal | frameshift deletion | NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843 | c.1437_1440del
c.1500_1503del
c.1620_1623del
c.1551_1554del
c.1551_1554del | p.D479fs
p.D500fs
p.D540fs
p.D517fs
p.D517fs | - | 9.044E-6 | Cirnigliaro2023
G
| |
| PTPRN2
| mAGRE4328 | chr7:
157396693-157396693 | C | T | splicing | | Maternal | splicing | | | | 21.1 | - | Cirnigliaro2023
G
| |
| PTPRN2
| SSC05285 | chr7:
158109533-158109533 | C | T | exonic | | De novo | synonymous SNV | NM_130842
NM_001308268
NM_002847
NM_130843 | c.G204A
c.G324A
c.G255A
c.G255A | p.A68A
p.A108A
p.A85A
p.A85A | - | 7.118E-5 | Fu2022
E
Trost2022
G
| |
| PTPRN2
| 2-1359-004 | chr7:
157548078-157548078 | G | A | intronic | | De novo | | | |