TTN
| 2-1134-003 | chr2:
179681342-179681342 | G | A | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| TTN
| 07C66440 | chr2:
179587296-179587296 | T | C | intronic | | De novo | | | | | - | - | Satterstrom2020
E
Trost2022
G
| |
| TTN
| 1-0271-003 | chr2:
179621919-179621919 | A | AAGTAACACTGTACTTGCTTTAAGTAC | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| TTN
| SP0043623 | chr2:
179397985-179397985 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G76162A
c.G76537A
c.G76738A
c.G95653A
c.G98434A
c.G103357A | p.V25388M
p.V25513M
p.V25580M
p.V31885M
p.V32812M
p.V34453M | 18.67 | - | Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 07C69183 | chr2:
179632633-179632633 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.G9186A
c.G9186A
c.G9186A
c.G9324A
c.G9324A
c.G9324A
c.G9324A | p.E3062E
p.E3062E
p.E3062E
p.E3108E
p.E3108E
p.E3108E
p.E3108E | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| G01-GEA-95-HI | chr2:
179611866-179611932 | GGGTGTGGAATATCTCTCTAGAGTCTCTCCTGGGGGTGTGGAGTATCTCTCTAGAGTCTCTCCTGGA | G | exonic | | De novo | nonframeshift deletion | NM_133379 | c.15195_15260del | p.5065_5087del | - | 2.508E-5 | Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0105324 | chr2:
179422815-179422815 | A | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T60071G
c.T60446G
c.T60647G
c.T79562G
c.T82343G
c.T87266G | p.M20024R
p.M20149R
p.M20216R
p.M26521R
p.M27448R
p.M29089R | 13.68 | - | Fu2022
E
| |
| TTN
| SP0019618 | chr2:
179436793-179436793 | A | G | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T46871C
c.T47246C
c.T47447C
c.T66362C
c.T69143C
c.T74066C | p.V15624A
p.V15749A
p.V15816A
p.V22121A
p.V23048A
p.V24689A | 13.71 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0103435 | chr2:
179572419-179572419 | C | G | exonic | | De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.G25143C
c.G27924C
c.G28875C | p.K8381N
p.K9308N
p.K9625N | 12.29 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0057795 | chr2:
179641497-179641497 | C | G | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.G4956C
c.G4956C
c.G4956C
c.G5094C
c.G5094C
c.G5094C
c.G5094C | p.E1652D
p.E1652D
p.E1652D
p.E1698D
p.E1698D
p.E1698D
p.E1698D | 8.442 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0065091 | chr2:
179458355-179458355 | T | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A31477G
c.A31852G
c.A32053G
c.A50968G
c.A53749G
c.A58672G | p.N10493D
p.N10618D
p.N10685D
p.N16990D
p.N17917D
p.N19558D | 13.44 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0001383 | chr2:
179615563-179615563 | A | G | exonic | | De novo | nonsynonymous SNV | NM_133379 | c.T11564C | p.I3855T | 2.604 | - | Feliciano2019
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0062584 | chr2:
179413598-179413598 | G | A | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.C65560T
c.C65935T
c.C66136T
c.C85051T
c.C87832T
c.C92755T | p.R21854W
p.R21979W
p.R22046W
p.R28351W
p.R29278W
p.R30919W | 16.17 | 1.659E-5 | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0084587 | chr2:
179473621-179473621 | G | A | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.C24922T
c.C25297T
c.C25498T
c.C44413T
c.C47194T
c.C52117T | p.P8308S
p.P8433S
p.P8500S
p.P14805S
p.P15732S
p.P17373S | 13.05 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0035854 | chr2:
179464485-179464485 | T | A | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A28948T
c.A29323T
c.A29524T
c.A48439T
c.A51220T
c.A56143T | p.T9650S
p.T9775S
p.T9842S
p.T16147S
p.T17074S
p.T18715S | 11.69 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0129240 | chr2:
179500824-179500824 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G14279A
c.G14654A
c.G14855A
c.G33770A
c.G36551A
c.G41474A | p.R4760Q
p.R4885Q
p.R4952Q
p.R11257Q
p.R12184Q
p.R13825Q | 14.15 | 1.664E-5 | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| iHART2900 | chr2:
179472176-179472176 | T | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A26044G
c.A26419G
c.A26620G
c.A45535G
c.A48316G
c.A53239G | p.T8682A
p.T8807A
p.T8874A
p.T15179A
p.T16106A
p.T17747A | 10.16 | - | Ruzzo2019
G
| |
| TTN
| SP0083576 | chr2:
179479284-179479284 | A | C | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T21762G
c.T22137G
c.T22338G
c.T41253G
c.T44034G
c.T48957G | p.V7254V
p.V7379V
p.V7446V
p.V13751V
p.V14678V
p.V16319V | - | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0071998 | chr2:
179598457-179598457 | T | C | exonic | | De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.A11927G
c.A14708G
c.A15659G | p.N3976S
p.N4903S
p.N5220S | 2.688 | 4.141E-5 | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0074879 | chr2:
179501233-179501233 | T | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A14026G
c.A14401G
c.A14602G
c.A33517G
c.A36298G
c.A41221G | p.R4676G
p.R4801G
p.R4868G
p.R11173G
p.R12100G
p.R13741G | 12.39 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| SP0024772 | chr2:
179483348-179483348 | A | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T19734A
c.T20109A
c.T20310A
c.T39225A
c.T42006A
c.T46929A | p.H6578Q
p.H6703Q
p.H6770Q
p.H13075Q
p.H14002Q
p.H15643Q | 13.25 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| MCD-005-3 | chr2:
179398537-179398537 | C | G | exonic | | Paternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G75610C
c.G75985C
c.G76186C
c.G95101C
c.G97882C
c.G102805C | p.A25204P
p.A25329P
p.A25396P
p.A31701P
p.A32628P
p.A34269P | 15.61 | - | Tuncay2023
G
| |
| TTN
| SP0060020 | chr2:
179468804-179468804 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G27415A
c.G27790A
c.G27991A
c.G46906A
c.G49687A
c.G54610A | p.E9139K
p.E9264K
p.E9331K
p.E15636K
p.E16563K
p.E18204K | 14.94 | - | Fu2022
E
Trost2022
G
| |
| TTN
| 12323.p1 | chr2:
179447820-179447820 | G | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.C38515A
c.C38890A
c.C39091A
c.C58006A
c.C60787A
c.C65710A | p.L12839I
p.L12964I
p.L13031I
p.L19336I
p.L20263I
p.L21904I | 13.75 | - | Iossifov2012
E
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Wilfert2021
G
Zhou2022
GE
| |
| TTN
| 3-0469-000 | chr2:
179529237-179529237 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001267550 | c.C36230T | p.P12077L | 11.26 | 8.702E-6 | Yuen2017
G
Zhou2022
GE
| |
| TTN
| SP0123106 | chr2:
179469819-179469819 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G26890A
c.G27265A
c.G27466A
c.G46381A
c.G49162A
c.G54085A | p.E8964K
p.E9089K
p.E9156K
p.E15461K
p.E16388K
p.E18029K | 15.14 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| iHART1470 | chr2:
179553483-179553509 | AACAGTTTTCTTAGAGACTTCAGCTTT | A | exonic | | Paternal | frameshift deletion | NM_133378
NM_001256850
NM_001267550 | c.28364_28385del
c.31145_31166del
c.32096_32117del | p.A9455fs
p.A10382fs
p.A10699fs | - | - | Ruzzo2019
G
| |
| TTN
| SP0078544 | chr2:
179582147-179582147 | C | T | intronic | | De novo | | | | | - | - | Fu2022
E
Trost2022
G
| |
| TTN
| SP0108027 | chr2:
179558607-179558607 | A | C | intronic | | De novo | | | | | - | - | Fu2022
E
| |
| TTN
| iHART2564 | chr2:
179516391-179516391 | A | G | splicing | | Paternal | splicing | | | | 7.983 | - | Ruzzo2019
G
| |
| TTN
| iHART2303 | chr2:
179477885-179477886 | TA | T | splicing | | Maternal | splicing | | | | - | 8.509E-6 | Ruzzo2019
G
| |
| TTN
| SP0091455 | chr2:
179604733-179604733 | G | A | exonic | | De novo | synonymous SNV | NM_003319
NM_001256850
NM_133432
NM_133437
NM_001267550 | c.C12138T
c.C12276T
c.C12513T
c.C12714T
c.C13227T | p.S4046S
p.S4092S
p.S4171S
p.S4238S
p.S4409S | - | 2.488E-5 | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| MCD-011-3 | chr2:
179455440-179455440 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G33817A
c.G34192A
c.G34393A
c.G53308A
c.G56089A
c.G61012A | p.G11273R
p.G11398R
p.G11465R
p.G17770R
p.G18697R
p.G20338R | 13.7 | - | Tuncay2023
G
| |
| TTN
| iHART2545 | chr2:
179535816-179535816 | C | T | splicing | | Maternal | splicing | | | | 18.83 | - | Ruzzo2019
G
| |
| TTN
| iHART3297 | chr2:
179528352-179528352 | A | C | splicing | | Paternal | splicing | | | | 15.28 | - | Ruzzo2019
G
| |
| TTN
| SP0097166 | chr2:
179611847-179611847 | T | G | exonic | | De novo | synonymous SNV | NM_133379 | c.A15280C | p.R5094R | - | 1.0E-4 | Fu2022
E
Trost2022
G
| |
| TTN
| MCD-019-3 | chr2:
179480433-179480433 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G21200A
c.G21575A
c.G21776A
c.G40691A
c.G43472A
c.G48395A | p.R7067H
p.R7192H
p.R7259H
p.R13564H
p.R14491H
p.R16132H | 14.46 | 6.64E-5 | Tuncay2023
G
| |
| TTN
| 07C69336 | chr2:
179437013-179437013 | G | A | exonic | | De novo | stopgain | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.C46651T
c.C47026T
c.C47227T
c.C66142T
c.C68923T
c.C73846T | p.R15551X
p.R15676X
p.R15743X
p.R22048X
p.R22975X
p.R24616X | 63.0 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 12385.p1 | chr2:
179425280-179425280 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G58384A
c.G58759A
c.G58960A
c.G77875A
c.G80656A
c.G85579A | p.G19462S
p.G19587S
p.G19654S
p.G25959S
p.G26886S
p.G28527S | 17.06 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Wilfert2021
G
Zhou2022
GE
| |
| TTN
| 13557.p1 | chr2:
179436520-179436520 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G47144A
c.G47519A
c.G47720A
c.G66635A
c.G69416A
c.G74339A | p.R15715Q
p.R15840Q
p.R15907Q
p.R22212Q
p.R23139Q
p.R24780Q | 18.13 | 1.66E-5 | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
O’Roak2012b
E
Satterstrom2020
E
Wilfert2021
G
Zhou2022
GE
| |
| TTN
| 13284.p1 | chr2:
179437710-179437710 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G45954A
c.G46329A
c.G46530A
c.G65445A
c.G68226A
c.G73149A | p.S15318S
p.S15443S
p.S15510S
p.S21815S
p.S22742S
p.S24383S | - | 4.189E-5 | Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Wilfert2021
G
Zhou2022
GE
| |
| TTN
| 12096.p1 | chr2:
179452804-179452804 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G36135A
c.G36510A
c.G36711A
c.G55626A
c.G58407A
c.G63330A | p.A12045A
p.A12170A
p.A12237A
p.A18542A
p.A19469A
p.A21110A | - | 6.664E-5 | Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Zhou2022
GE
| |
| TTN
| MCD-025-3 | chr2:
179641415-179641415 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.C5038G
c.C5038G
c.C5038G
c.C5176G
c.C5176G
c.C5176G
c.C5176G | p.L1680V
p.L1680V
p.L1680V
p.L1726V
p.L1726V
p.L1726V
p.L1726V | 10.66 | - | Tuncay2023
G
| |
| TTN
| 13398.p1 | chr2:
179592329-179592329 | G | A | exonic | | Mosaic, De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.C16244T
c.C19025T
c.C19976T | p.T5415M
p.T6342M
p.T6659M | 12.5 | 0.0039 | Dou2017
E
Iossifov2012
E
| |
| TTN
| 14091.p1 | chr2:
179472552-179472552 | C | A | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G25767T
c.G26142T
c.G26343T
c.G45258T
c.G48039T
c.G52962T | p.P8589P
p.P8714P
p.P8781P
p.P15086P
p.P16013P
p.P17654P | - | - | Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| MCD-025-3 | chr2:
179639009-179639009 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.G6844A
c.G6844A
c.G6844A
c.G6982A
c.G6982A
c.G6982A
c.G6982A | p.V2282I
p.V2282I
p.V2282I
p.V2328I
p.V2328I
p.V2328I
p.V2328I | 13.46 | - | Tuncay2023
G
| |
| TTN
| 13412.p1 | chr2:
179407526-179407526 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G69860A
c.G70235A
c.G70436A
c.G89351A
c.G92132A
c.G97055A | p.R23287H
p.R23412H
p.R23479H
p.R29784H
p.R30711H
p.R32352H | 23.4 | 6.63E-5 | Iossifov2012
E
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Zhou2022
GE
| |
| TTN
| 14313.p1 | chr2:
179481591-179481591 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G20830A
c.G21205A
c.G21406A
c.G40321A
c.G43102A
c.G48025A | p.V6944M
p.V7069M
p.V7136M
p.V13441M
p.V14368M
p.V16009M | 11.29 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 14673.p1 | chr2:
179486354-179486354 | C | G | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G18002C
c.G18377C
c.G18578C
c.G37493C
c.G40274C
c.G45197C | p.G6001A
p.G6126A
p.G6193A
p.G12498A
p.G13425A
p.G15066A | 16.17 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Wilfert2021
G
Zhou2022
GE
| |
| TTN
| 14697.p1 | chr2:
179588185-179588185 | G | A | exonic | | De novo | synonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.C17910T
c.C20691T
c.C21642T | p.N5970N
p.N6897N
p.N7214N | - | 6.724E-5 | Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| MCD-025-3 | chr2:
179426476-179426476 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G57188A
c.G57563A
c.G57764A
c.G76679A
c.G79460A
c.G84383A | p.R19063H
p.R19188H
p.R19255H
p.R25560H
p.R26487H
p.R28128H | 16.53 | - | Tuncay2023
G
| |
| TTN
| 11025.p1 | chr2:
179604758-179604758 | C | T | exonic | | Mosaic, De novo | nonsynonymous SNV | NM_003319
NM_001256850
NM_133432
NM_133437
NM_001267550 | c.G12113A
c.G12251A
c.G12488A
c.G12689A
c.G13202A | p.R4038Q
p.R4084Q
p.R4163Q
p.R4230Q
p.R4401Q | 10.16 | 5.0E-4 | Dou2017
E
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 14275.p1 | chr2:
179666976-179666976 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001256850
NM_001267550
NM_003319
NM_133378
NM_133379
NM_133432
NM_133437 | c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T | p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C | 18.74 | 1.648E-5 | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Zhou2022
GE
| |
| TTN
| MCD-025-3 | chr2:
179635947-179635947 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.A7969G
c.A7969G
c.A7969G
c.A8107G
c.A8107G
c.A8107G
c.A8107G | p.K2657E
p.K2657E
p.K2657E
p.K2703E
p.K2703E
p.K2703E
p.K2703E | 13.9 | - | Tuncay2023
G
| |
| TTN
| MCD-025-3 | chr2:
179593870-179593870 | C | G | exonic | | Paternal | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.G15163C
c.G17944C
c.G18895C | p.E5055Q
p.E5982Q
p.E6299Q | 15.36 | - | Tuncay2023
G
| |
| TTN
| AU2515301 | chr2:
179436520-179436520 | C | T | exonic | | | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G47144A
c.G47519A
c.G47720A
c.G66635A
c.G69416A
c.G74339A | p.R15715Q
p.R15840Q
p.R15907Q
p.R22212Q
p.R23139Q
p.R24780Q | 18.13 | 1.66E-5 | Zhou2022
GE
| |
| TTN
| 7-0352-003 | chr2:
179421853-179421853 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G60833A
c.G61208A
c.G61409A
c.G80324A
c.G83105A
c.G88028A | p.R20278H
p.R20403H
p.R20470H
p.R26775H
p.R27702H
p.R29343H | 21.5 | 9.296E-5 | Trost2022
G
Zhou2022
GE
| |
| TTN
| 1658001 | chr2:
179635170-179635170 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.G8211A
c.G8211A
c.G8211A
c.G8349A
c.G8349A
c.G8349A
c.G8349A | p.R2737R
p.R2737R
p.R2737R
p.R2783R
p.R2783R
p.R2783R
p.R2783R | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 1-1116-003 | chr2:
179442202-179442202 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G41665A
c.G42040A
c.G42241A
c.G61156A
c.G63937A
c.G68860A | p.D13889N
p.D14014N
p.D14081N
p.D20386N
p.D21313N
p.D22954N | 16.03 | - | Trost2022
G
Zhou2022
GE
| |
| TTN
| 3-0752-000 | chr2:
179439315-179439315 | A | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T44349G
c.T44724G
c.T44925G
c.T63840G
c.T66621G
c.T71544G | p.H14783Q
p.H14908Q
p.H14975Q
p.H21280Q
p.H22207Q
p.H23848Q | 10.08 | - | Trost2022
G
Zhou2022
GE
| |
| TTN
| SSC07782 | chr2:
179407526-179407526 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G69860A
c.G70235A
c.G70436A
c.G89351A
c.G92132A
c.G97055A | p.R23287H
p.R23412H
p.R23479H
p.R29784H
p.R30711H
p.R32352H | 23.4 | 6.63E-5 | Trost2022
G
| |
| TTN
| MSSNG00217-003 | chr2:
179418891-179418891 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G61752A
c.G62127A
c.G62328A
c.G81243A
c.G84024A
c.G88947A | p.S20584S
p.S20709S
p.S20776S
p.S27081S
p.S28008S
p.S29649S | - | - | Trost2022
G
Zhou2022
GE
| |
| TTN
| MSSNG00025-003 | chr2:
179412224-179412224 | T | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A66934G
c.A67309G
c.A67510G
c.A86425G
c.A89206G
c.A94129G | p.M22312V
p.M22437V
p.M22504V
p.M28809V
p.M29736V
p.M31377V | 8.848 | - | Trost2022
G
Zhou2022
GE
| |
| TTN
| 13284_p1 | chr2:
179437710-179437710 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G45954A
c.G46329A
c.G46530A
c.G65445A
c.G68226A
c.G73149A | p.S15318S
p.S15443S
p.S15510S
p.S21815S
p.S22742S
p.S24383S | - | 4.189E-5 | Fu2022
E
| |
| TTN
| SP0126138 | chr2:
179558645-179558645 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| TTN
| SP0125278 | chr2:
179580186-179580186 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| TTN
| 1-0458-003 | chr2:
179552118-179552121 | CCTT | AAAAA | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| TTN
| 1-1179-003 | chr2:
179588321-179588321 | T | C | exonic | | De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.A17774G
c.A20555G
c.A21506G | p.N5925S
p.N6852S
p.N7169S | 7.078 | - | Trost2022
G
Zhou2022
GE
| |
| TTN
| MSSNG00040-004 | chr2:
179454828-179454828 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G34429A
c.G34804A
c.G35005A
c.G53920A
c.G56701A
c.G61624A | p.A11477T
p.A11602T
p.A11669T
p.A17974T
p.A18901T
p.A20542T | 10.32 | - | Trost2022
G
| |
| TTN
| 12351.p1 | chr2:
179466056-179466056 | T | C | exonic | | | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A28473G
c.A28848G
c.A29049G
c.A47964G
c.A50745G
c.A55668G | p.E9491E
p.E9616E
p.E9683E
p.E15988E
p.E16915E
p.E18556E | - | - | Zhou2022
GE
| |
| TTN
| 08C74827 | chr2:
179436520-179436520 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G47144A
c.G47519A
c.G47720A
c.G66635A
c.G69416A
c.G74339A | p.R15715Q
p.R15840Q
p.R15907Q
p.R22212Q
p.R23139Q
p.R24780Q | 18.13 | 1.66E-5 | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 2-1125-003 | chr2:
179592011-179592011 | G | T | exonic | | | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.C16349A
c.C19130A
c.C20081A | p.S5450Y
p.S6377Y
p.S6694Y | 10.17 | - | Zhou2022
GE
| |
| TTN
| 4897 | chr2:
179436520-179436520 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G47144A
c.G47519A
c.G47720A
c.G66635A
c.G69416A
c.G74339A | p.R15715Q
p.R15840Q
p.R15907Q
p.R22212Q
p.R23139Q
p.R24780Q | 18.13 | 1.66E-5 | Trost2022
G
| |
| TTN
| 2-0159-003 | chr2:
179588653-179588653 | C | T | exonic | | De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.G17601A
c.G20382A
c.G21333A | p.M5867I
p.M6794I
p.M7111I | 4.654 | - | Trost2022
G
Zhou2022
GE
| |
| TTN
| AU004403 | chr2:
179442040-179442040 | T | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A41827G
c.A42202G
c.A42403G
c.A61318G
c.A64099G
c.A69022G | p.K13943E
p.K14068E
p.K14135E
p.K20440E
p.K21367E
p.K23008E | 15.02 | - | Trost2022
G
| |
| TTN
| 11488.p1 | chr2:
179396737-179396737 | C | T | exonic | | Mosaic | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G77410A
c.G77785A
c.G77986A
c.G96901A
c.G99682A
c.G104605A | p.E25804K
p.E25929K
p.E25996K
p.E32301K
p.E33228K
p.E34869K | 14.79 | 8.349E-6 | Dou2017
E
| |
| TTN
| 1-0329-003 | chr2:
179615843-179615843 | C | A | exonic | | De novo | nonsynonymous SNV | NM_133379 | c.G11284T | p.V3762L | 11.54 | - | Yuen2017
G
Zhou2022
GE
| |
| TTN
| 7-0449-003 | chr2:
179666467-179666467 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| TTN
| SP0111736 | chr2:
179595707-179595707 | G | A | exonic | | De novo | synonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.C13953T
c.C16734T
c.C17685T | p.F4651F
p.F5578F
p.F5895F | - | 2.499E-5 | Trost2022
G
| |
| TTN
| SP0168894 | chr2:
179634779-179634783 | ATACT | A | intronic | | De novo | | | | | - | 8.247E-6 | Trost2022
G
| |
| TTN
| mAGRE2303 | chr2:
179477885-179477886 | TA | T | splicing | | Maternal | splicing | | | | - | 8.509E-6 | Cirnigliaro2023
G
| |
| TTN
| Wang2023:379 | chr2:
179434987-179434987 | A | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T48677A
c.T49052A
c.T49253A
c.T68168A
c.T70949A
c.T75872A | p.L16226H
p.L16351H
p.L16418H
p.L22723H
p.L23650H
p.L25291H | 12.11 | - | Wang2023
E
| |
| TTN
| mAGRE2900 | chr2:
179472176-179472176 | T | C | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A26044G
c.A26419G
c.A26620G
c.A45535G
c.A48316G
c.A53239G | p.T8682A
p.T8807A
p.T8874A
p.T15179A
p.T16106A
p.T17747A | 10.16 | - | Cirnigliaro2023
G
| |
| TTN
| 11462.p1 | chr2:
179605302-179605302 | G | T | exonic | | Mosaic | nonsynonymous SNV | NM_003319
NM_001256850
NM_133432
NM_133437
NM_001267550 | c.C11569A
c.C11707A
c.C11944A
c.C12145A
c.C12658A | p.P3857T
p.P3903T
p.P3982T
p.P4049T
p.P4220T | 2.579 | - | Krupp2017
E
| |
| TTN
| G01-GEA-278-HI | chr2:
179638072-179638072 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.G7481A
c.G7481A
c.G7481A
c.G7619A
c.G7619A
c.G7619A
c.G7619A | p.R2494H
p.R2494H
p.R2494H
p.R2540H
p.R2540H
p.R2540H
p.R2540H | 11.07 | 3.327E-5 | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| mAGRE5035 | chr2:
179398260-179398260 | A | C | exonic | | Maternal | stopgain | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T75887G
c.T76262G
c.T76463G
c.T95378G
c.T98159G
c.T103082G | p.L25296X
p.L25421X
p.L25488X
p.L31793X
p.L32720X
p.L34361X | 72.0 | - | Cirnigliaro2023
G
| |
| TTN
| DEASD_0285_001 | chr2:
179434864-179434864 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G48800A
c.G49175A
c.G49376A
c.G68291A
c.G71072A
c.G75995A | p.G16267D
p.G16392D
p.G16459D
p.G22764D
p.G23691D
p.G25332D | 15.27 | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| NDAR_INVTF535UK6_wes1 | chr2:
179435034-179435034 | A | G | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.T48630C
c.T49005C
c.T49206C
c.T68121C
c.T70902C
c.T75825C | p.Y16210Y
p.Y16335Y
p.Y16402Y
p.Y22707Y
p.Y23634Y
p.Y25275Y | - | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| NDAR_INVHK486VP1_wes1 | chr2:
179439424-179439424 | C | A | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G44240T
c.G44615T
c.G44816T
c.G63731T
c.G66512T
c.G71435T | p.G14747V
p.G14872V
p.G14939V
p.G21244V
p.G22171V
p.G23812V | 9.033 | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| mAGRE5513 | chr2:
179638285-179638285 | G | A | exonic | | Maternal | stopgain | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.C7360T
c.C7360T
c.C7360T
c.C7498T
c.C7498T
c.C7498T
c.C7498T | p.Q2454X
p.Q2454X
p.Q2454X
p.Q2500X
p.Q2500X
p.Q2500X
p.Q2500X | 49.0 | - | Cirnigliaro2023
G
| |
| TTN
| NDAR_INVXB589YLR_wes1 | chr2:
179575512-179575512 | G | A | exonic | | De novo | stopgain | NM_133378
NM_001256850
NM_001267550 | c.C24580T
c.C27361T
c.C28312T | p.R8194X
p.R9121X
p.R9438X | 60.0 | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| mAGRE5512 | chr2:
179638285-179638285 | G | A | exonic | | Maternal | stopgain | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.C7360T
c.C7360T
c.C7360T
c.C7498T
c.C7498T
c.C7498T
c.C7498T | p.Q2454X
p.Q2454X
p.Q2454X
p.Q2500X
p.Q2500X
p.Q2500X
p.Q2500X | 49.0 | - | Cirnigliaro2023
G
| |
| TTN
| NDAR_INVVJ310ZZ1_wes1 | chr2:
179582496-179582496 | C | T | exonic | | De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.G21373A
c.G24154A
c.G25105A | p.V7125I
p.V8052I
p.V8369I | 8.958 | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| mAGRE1470 | chr2:
179553483-179553509 | AACAGTTTTCTTAGAGACTTCAGCTTT | A | exonic | | Paternal | frameshift deletion | NM_133378
NM_001256850
NM_001267550 | c.28364_28385del
c.31145_31166del
c.32096_32117del | p.A9455fs
p.A10382fs
p.A10699fs | - | - | Cirnigliaro2023
G
| |
| TTN
| DEASD_0097_001 | chr2:
179584745-179584745 | C | T | exonic | | De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.G19892A
c.G22673A
c.G23624A | p.G6631E
p.G7558E
p.G7875E | 13.18 | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| mAGRE4281 | chr2:
179537132-179537132 | A | G | splicing | | Maternal | splicing | | | | 17.86 | 8.356E-6 | Cirnigliaro2023
G
| |
| TTN
| UK10K_SKUSE5080165 | chr2:
179634424-179634424 | C | G | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.G8746C
c.G8746C
c.G8746C
c.G8884C
c.G8884C
c.G8884C
c.G8884C | p.A2916P
p.A2916P
p.A2916P
p.A2962P
p.A2962P
p.A2962P
p.A2962P | 14.64 | 0.0017 | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
| |
| TTN
| mAGRE2545 | chr2:
179535816-179535816 | C | T | splicing | | Maternal | splicing | | | | 18.83 | - | Cirnigliaro2023
G
| |
| TTN
| AU142A | chr2:
179641336-179641336 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.G5117A
c.G5117A
c.G5117A
c.G5255A
c.G5255A
c.G5255A
c.G5255A | p.R1706H
p.R1706H
p.R1706H
p.R1752H
p.R1752H
p.R1752H
p.R1752H | 13.2 | 2.0E-4 | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Zhou2022
GE
| |
| TTN
| AU4234303 | chr2:
179528352-179528352 | A | C | splicing | | Paternal | splicing | | | | 15.28 | - | Cirnigliaro2023
G
| |
| TTN
| mAGRE2564 | chr2:
179516391-179516391 | A | G | splicing | | Paternal | splicing | | | | 7.983 | - | Cirnigliaro2023
G
| |
| TTN
| Lim2017:70540 | chr2:
179486354-179486354 | C | G | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G18002C
c.G18377C
c.G18578C
c.G37493C
c.G40274C
c.G45197C | p.G6001A
p.G6126A
p.G6193A
p.G12498A
p.G13425A
p.G15066A | 16.17 | - | Lim2017
E
| |
| TTN
| SSC03561 | chr2:
179452804-179452804 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G36135A
c.G36510A
c.G36711A
c.G55626A
c.G58407A
c.G63330A | p.A12045A
p.A12170A
p.A12237A
p.A18542A
p.A19469A
p.A21110A | - | 6.664E-5 | Fu2022
E
Lim2017
E
Trost2022
G
| |
| TTN
| JASD_Fam0079 | chr2:
179428473-179428473 | C | T | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G55191A
c.G55566A
c.G55767A
c.G74682A
c.G77463A
c.G82386A | p.T18397T
p.T18522T
p.T18589T
p.T24894T
p.T25821T
p.T27462T | - | 1.658E-5 | Takata2018
E
| |
| TTN
| SSC10846 | chr2:
179666976-179666976 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001256850
NM_001267550
NM_003319
NM_133378
NM_133379
NM_133432
NM_133437 | c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T | p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C | 18.74 | 1.648E-5 | Fu2022
E
Lim2017
E
Trost2022
G
| |
| TTN
| SSC06404 | chr2:
179447820-179447820 | G | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.C38515A
c.C38890A
c.C39091A
c.C58006A
c.C60787A
c.C65710A | p.L12839I
p.L12964I
p.L13031I
p.L19336I
p.L20263I
p.L21904I | 13.75 | - | Fu2022
E
Lim2017
E
Trost2022
G
| |
| TTN
| Lim2017:68695 | chr2:
179425280-179425280 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G58384A
c.G58759A
c.G58960A
c.G77875A
c.G80656A
c.G85579A | p.G19462S
p.G19587S
p.G19654S
p.G25959S
p.G26886S
p.G28527S | 17.06 | - | Lim2017
E
| |
| TTN
| SP0022147 | chr2:
179528361-179528361 | A | G | exonic | | De novo | synonymous SNV | NM_001267550 | c.T36525C | p.P12175P | 5.454 | - | Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 1-0458-003 | chr2:
179581673-179581673 | T | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| TTN
| MCD-005-3 | chr2:
179410255-179410255 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A68387G
c.A68762G
c.A68963G
c.A87878G
c.A90659G
c.A95582G | p.Y22796C
p.Y22921C
p.Y22988C
p.Y29293C
p.Y30220C
p.Y31861C | 10.5 | 3.0E-4 | Tuncay2023
G
| |
| TTN
| SP0037023 | chr2:
179474028-179474028 | G | A | exonic | | De novo | stopgain | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.C24814T
c.C25189T
c.C25390T
c.C44305T
c.C47086T
c.C52009T | p.R8272X
p.R8397X
p.R8464X
p.R14769X
p.R15696X
p.R17337X | 60.0 | - | Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| MCD-011-3 | chr2:
179437468-179437468 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G46196A
c.G46571A
c.G46772A
c.G65687A
c.G68468A
c.G73391A | p.R15399Q
p.R15524Q
p.R15591Q
p.R21896Q
p.R22823Q
p.R24464Q | 14.87 | 3.318E-5 | Tuncay2023
G
| |
| TTN
| 1706001 | chr2:
179631066-179631066 | C | T | intronic | | De novo | | | | | - | - | Satterstrom2020
E
Trost2022
G
| |
| TTN
| G01-GEA-62-HI | chr2:
179587173-179587173 | G | T | exonic | | De novo | synonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.C18609A
c.C21390A
c.C22341A | p.P6203P
p.P7130P
p.P7447P | - | - | Fu2022
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| MCD-018-3 | chr2:
179529382-179529382 | T | A | exonic | | Maternal | nonsynonymous SNV | NM_001267550 | c.A36201T | p.E12067D | 20.9 | - | Tuncay2023
G
| |
| TTN
| MCD-018-3 | chr2:
179425387-179425387 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G58277A
c.G58652A
c.G58853A
c.G77768A
c.G80549A
c.G85472A | p.R19426H
p.R19551H
p.R19618H
p.R25923H
p.R26850H
p.R28491H | 14.93 | 1.0E-4 | Tuncay2023
G
| |
| TTN
| 1-0073-003 | chr2:
179637530-179637530 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| TTN
| MCD-019-3 | chr2:
179514293-179514293 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001267550 | c.C39961T | p.P13321S | 12.33 | - | Tuncay2023
G
| |
| TTN
| A49 | chr2:
179469622-179469622 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G26999A
c.G27374A
c.G27575A
c.G46490A
c.G49271A
c.G54194A | p.R9000H
p.R9125H
p.R9192H
p.R15497H
p.R16424H
p.R18065H | 15.86 | 9.282E-5 | Jiao2019
E
| |
| TTN
| 08C78485 | chr2:
179592011-179592011 | G | T | exonic | | De novo | nonsynonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.C16349A
c.C19130A
c.C20081A | p.S5450Y
p.S6377Y
p.S6694Y | 10.17 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 09C83896 | chr2:
179598582-179598582 | A | G | exonic | | De novo | synonymous SNV | NM_133378
NM_001256850
NM_001267550 | c.T11802C
c.T14583C
c.T15534C | p.I3934I
p.I4861I
p.I5178I | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 1-0652-003 | chr2:
179566399-179566399 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| TTN
| SP0020624 | chr2:
179425733-179425733 | T | G | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.A57931C
c.A58306C
c.A58507C
c.A77422C
c.A80203C
c.A85126C | p.K19311Q
p.K19436Q
p.K19503Q
p.K25808Q
p.K26735Q
p.K28376Q | 13.37 | 1.657E-5 | Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| TTN
| 12369.p1 | chr2:
179647546-179647546 | A | G | exonic | | Mosaic | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.T2949C
c.T2949C
c.T2949C
c.T3087C
c.T3087C
c.T3087C
c.T3087C | p.Y983Y
p.Y983Y
p.Y983Y
p.Y1029Y
p.Y1029Y
p.Y1029Y
p.Y1029Y | - | 0.0745 | Dou2017
E
| |
| TTN
| GEA243 | chr2:
179489372-179489372 | C | A | exonic | | De novo | stopgain | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G17440T
c.G17815T
c.G18016T
c.G36931T
c.G39712T
c.G44635T | p.E5814X
p.E5939X
p.E6006X
p.E12311X
p.E13238X
p.E14879X | 58.0 | - | Fu2022
E
| |
| TTN
| MCD-025-3 | chr2:
179440040-179440040 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G43624A
c.G43999A
c.G44200A
c.G63115A
c.G65896A
c.G70819A | p.A14542T
p.A14667T
p.A14734T
p.A21039T
p.A21966T
p.A23607T | 15.82 | - | Tuncay2023
G
| |
| TTN
| 08C75407 | chr2:
179606079-179606079 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_001256850
NM_133432
NM_133437
NM_001267550 | c.G10792A
c.G10930A
c.G11167A
c.G11368A
c.G11881A | p.V3598M
p.V3644M
p.V3723M
p.V3790M
p.V3961M | 13.42 | - | Fu2022
E
| |
| TTN
| 70540 | chr2:
179486354-179486354 | C | G | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G18002C
c.G18377C
c.G18578C
c.G37493C
c.G40274C
c.G45197C | p.G6001A
p.G6126A
p.G6193A
p.G12498A
p.G13425A
p.G15066A | 16.17 | - | Fu2022
E
Trost2022
G
| |
| TTN
| ASC_11147-1 | chr2:
179611131-179611131 | T | G | exonic | | De novo | synonymous SNV | NM_133379 | c.A15996C | p.T5332T | - | - | Fu2022
E
| |
| TTN
| A1378B | chr2:
179654738-179654738 | G | A | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_001256850
NM_001267550
NM_133378
NM_133379 | c.C1767T
c.C1767T
c.C1767T
c.C1905T
c.C1905T
c.C1905T
c.C1905T | p.T589T
p.T589T
p.T589T
p.T635T
p.T635T
p.T635T
p.T635T | - | - | Fu2022
E
| |
| TTN
| 09C96031 | chr2:
179545104-179545104 | A | C | intronic | | De novo | | | | | - | 0.0032 | Kosmicki2017
E
| |
| TTN
| 14313_p1 | chr2:
179481591-179481591 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G20830A
c.G21205A
c.G21406A
c.G40321A
c.G43102A
c.G48025A | p.V6944M
p.V7069M
p.V7136M
p.V13441M
p.V14368M
p.V16009M | 11.29 | - | Fu2022
E
| |
| TTN
| AC02-1197-01 | chr2:
179545104-179545104 | A | C | intronic | | De novo | | | | | - | 0.0032 | Kosmicki2017
E
| |
| TTN
| 11008_p1 | chr2:
179500416-179500416 | G | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.C14440A
c.C14815A
c.C15016A
c.C33931A
c.C36712A
c.C41635A | p.P4814T
p.P4939T
p.P5006T
p.P11311T
p.P12238T
p.P13879T | 15.54 | 1.0E-4 | Fu2022
E
| |
| TTN
| 14091_p1 | chr2:
179472552-179472552 | C | A | exonic | | De novo | synonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G25767T
c.G26142T
c.G26343T
c.G45258T
c.G48039T
c.G52962T | p.P8589P
p.P8714P
p.P8781P
p.P15086P
p.P16013P
p.P17654P | - | - | Fu2022
E
| |
| TTN
| 68695 | chr2:
179425280-179425280 | C | T | exonic | | De novo | nonsynonymous SNV | NM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550 | c.G58384A
c.G58759A
c.G58960A
c.G77875A
c.G80656A
c.G85579A | p.G19462S
p.G19587S
p.G19654S
p.G25959S
p.G26886S
p.G28527S | 17.06 | - | Fu2022
E
Trost2022
G
| |