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Results for "CSMD1"

Variant Events: 418

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CSMD1     1-0253-004chr8:
3806772-3806772		ACintronicDe novo--Yuen2017 G
CSMD1     2-1305-003chr8:
4317594-4317594		GCintronicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     AU4219302chr8:
3554496-3554496		GCintronicDe novo--Yuen2017 G
CSMD1     12650.p1chr8:
3253768-3253768		CTexonicMosaicsynonymous SNVNM_033225c.G2541Ap.L847L0.0260.4527Dou2017 E
CSMD1     AU4219302chr8:
3577173-3577173		GTintronicDe novo--Yuen2017 G
CSMD1     2-1305-003chr8:
4303137-4303137		GAintronicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     2-1093-009chr8:
2985711-2985711		TAintronicDe novo--Yuen2017 G
CSMD1     1-0487-003chr8:
3238143-3238143		CTintronicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     2-1093-009chr8:
2959685-2959685		ATintronicDe novo--Yuen2017 G
CSMD1     2-1521-003chr8:
5147182-5147182		TCintergenicDe novo--Yuen2017 G
CSMD1     SP0064293chr8:
3889497-3889497		GCexonicDe novononsynonymous SNVNM_033225c.C540Gp.H180Q9.253-Fu2022 E
Zhou2022 GE
CSMD1     AU1795302chr8:
5929781-5929781		TCintergenicDe novo--Yuen2017 G
CSMD1     1-0300-004chr8:
3210414-3210414		GAintronicDe novo--Yuen2017 G
CSMD1     SP0120159chr8:
3474354-3474354		TGintronicDe novo--Fu2022 E
CSMD1     SP0131947chr8:
3081237-3081237		GTintronicDe novo--Fu2022 E
CSMD1     AU2988302chr8:
4682141-4682141		GCintronicDe novo--Yuen2017 G
CSMD1     SP0000145chr8:
2796109-2796109		ACexonicDe novostoplossNM_033225c.T10693Gp.X3565E37.0-Fu2022 E
CSMD1     AU4237302chr8:
4858900-4858900		GTintergenicDe novo--Yuen2017 G
CSMD1     SP0048745chr8:
4494874-4494874		ATexonicDe novononsynonymous SNVNM_033225c.T292Ap.L98I17.83-Fu2022 E
Zhou2022 GE
CSMD1     SP0007581chr8:
4277517-4277517		CGexonicDe novononsynonymous SNVNM_033225c.G373Cp.D125H19.1-Fu2022 E
Zhou2022 GE
CSMD1     SP0044672chr8:
3047646-3047646		AGintronicDe novo--Fu2022 E
CSMD1     SP0032113chr8:
3081367-3081367		CAexonicDe novosynonymous SNVNM_033225c.G4368Tp.T1456T7.089-Fu2022 E
Zhou2022 GE
CSMD1     2-1322-004chr8:
6179648-6179648		GAintergenicDe novo--Yuen2017 G
CSMD1     AU3861302chr8:
4175257-4175257		TGintronicDe novo--Yuen2017 G
CSMD1     1-0498-003chr8:
5571105-5571105		GAintergenicDe novo--Yuen2017 G
CSMD1     2-0306-003chr8:
3288995-3288995		GAintronicDe novo--Yuen2016 G
CSMD1     AU060803chr8:
4062388-4062388		CTintronicDe novo--Yuen2017 G
CSMD1     AU060803chr8:
4063872-4063872		CGintronicDe novo--Yuen2017 G
CSMD1     AU060803chr8:
4065729-4065729		AGintronicDe novo--Yuen2017 G
CSMD1     1-0330-003chr8:
3344945-3344945		GAintronicDe novo--Yuen2017 G
CSMD1     1-0671-003chr8:
5521627-5521627		CTintergenicDe novo--Yuen2017 G
CSMD1     5-0125-003chr8:
5541699-5541699		TCintergenicDe novo--Yuen2017 G
CSMD1     SSC07016chr8:
3166067-3166067		GAintronicDe novo--Trost2022 G
CSMD1     1-0447-003chr8:
4671467-4671467		ATintronicDe novo--Yuen2017 G
CSMD1     1-0862-003chr8:
3050117-3050117		CTintronicDe novo--Yuen2017 G
CSMD1     1-0976-003chr8:
5575489-5575489		TCintergenicDe novo--Yuen2017 G
CSMD1     1-0976-003chr8:
4728330-4728330		GAintronicDe novo--Yuen2017 G
CSMD1     AU3794301chr8:
4060037-4060037		AGintronicDe novo--Yuen2017 G
CSMD1     AU3727303chr8:
4144226-4144226		GCintronicDe novo--Yuen2017 G
CSMD1     AU0864301chr8:
2954369-2954369		AGsplicingInheritedsplicing22.5-Stessman2017 T
CSMD1     Cukier2014:37117chr8:
2965294-2965294		GCexonicUnknownnonsynonymous SNVNM_033225c.C6781Gp.P2261A15.420.0042Cukier2014 E
CSMD1     Cukier2014:17122chr8:
3253832-3253832		CTexonicUnknownnonsynonymous SNVNM_033225c.G2477Ap.G826D16.61-Cukier2014 E
CSMD1     1-0065-005chr8:
6008048-6008048		GGAAAAGAAAGGGAAAGGGAAAGGAAAGTintergenicDe novo--Yuen2017 G
CSMD1     2-1317-003chr8:
3410119-3410119		TCintronicDe novo--Yuen2016 G
CSMD1     12906.p1chr8:
2965314-2965314		TCexonicDe novononsynonymous SNVNM_033225c.A6761Gp.Q2254R1.421-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
CSMD1     14695.p1chr8:
3046533-3046533		ATexonicDe novononsynonymous SNVNM_033225c.T5399Ap.V1800E16.27-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
CSMD1     14165.p1chr8:
3165969-3165969		GAexonicDe novononsynonymous SNVNM_033225c.C3688Tp.R1230C15.04-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
CSMD1     7-0175-003chr8:
3892953-3892953		CGintronicDe novo--Yuen2017 G
CSMD1     7-0175-003chr8:
4031497-4031497		CGintronicDe novo--Yuen2017 G
CSMD1     AU3125301chr8:
3133893-3133893		GAintronicDe novo--Yuen2017 G
CSMD1     AU3846302chr8:
4202784-4202784		TCintronicDe novo--Yuen2017 G
CSMD1     1-0191-004chr8:
4230113-4230113		ATintronicDe novo--Yuen2017 G
CSMD1     AU2029302chr8:
4707812-4707812		ACintronicDe novo--Yuen2017 G
CSMD1     7-0175-003chr8:
4192950-4192950		ATintronicDe novo--Yuen2017 G
CSMD1     7-0175-003chr8:
5107487-5107487		TCintergenicDe novo--Yuen2017 G
CSMD1     AU1573301chr8:
2857552-2857552		GAexonicUnknownnonsynonymous SNVNM_033225c.C8131Tp.R2711W15.95.798E-5Stessman2017 T
CSMD1     AU2988303chr8:
4682141-4682141		GCintronicDe novo--Yuen2017 G
CSMD1     2-1266-003chr8:
5644364-5644364		ATintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     2-1325-003chr8:
4090338-4090338		AGintronicDe novo--Yuen2017 G
CSMD1     1-0464-003chr8:
3302074-3302074		ACintronicDe novo--Yuen2017 G
CSMD1     7-0008-003chr8:
3648885-3648885		AGintronicDe novo--Yuen2017 G
CSMD1     2-1722-003chr8:
3152451-3152451		GTintronicDe novo--Yuen2017 G
CSMD1     AU2410302chr8:
3326800-3326800		TCintronicDe novo--Yuen2017 G
CSMD1     SP0166602chr8:
3076957-3076957		TGexonicnonsynonymous SNVNM_033225c.A4492Cp.M1498L4.226-Zhou2022 GE
CSMD1     AU024105chr8:
3056101-3056101		CAintronicDe novo--Yuen2017 G
CSMD1     SP0356320chr8:
2836308-2836308		CTexonicnonsynonymous SNVNM_033225c.G8392Ap.D2798N16.24-Zhou2022 GE
CSMD1     SP0159611chr8:
3141850-3141850		GCexonicnonsynonymous SNVNM_033225c.C3969Gp.F1323L17.64-Zhou2022 GE
CSMD1     AU3371303chr8:
5780588-5780590		CTGCintergenicDe novo--Yuen2017 G
CSMD1     1-0485-003chr8:
3233889-3233889		CAintronicDe novo--Yuen2017 G
CSMD1     AU079204chr8:
2817647-2817647		AGintronicDe novo--Yuen2017 G
CSMD1     1-0763-004chr8:
4253499-4253501		TTCTintronicDe novo--Yuen2017 G
CSMD1     3-0396-000chr8:
6207435-6207435		CTintergenicDe novo--Yuen2016 G
CSMD1     AU1987302chr8:
5411725-5411725		TCintergenicDe novo--Yuen2017 G
CSMD1     A16chr8:
3970295-3970295		GTintronicDe novo--Wu2018 G
CSMD1     1-0406-003chr8:
4634486-4634486		TCintronicDe novo--Yuen2017 G
CSMD1     AU3728301chr8:
5547994-5547994		CTintergenicDe novo--Yuen2017 G
CSMD1     1-0289-004chr8:
4311182-4311182		ACintronicDe novo--Yuen2017 G
CSMD1     2-1348-003chr8:
3157817-3157817		ACintronicDe novo--Yuen2017 G
CSMD1     1-0448-003chr8:
3788422-3788422		CTintronicDe novo--Yuen2017 G
CSMD1     2-1429-004chr8:
3683107-3683107		GCintronicDe novo--Yuen2017 G
CSMD1     AU4286302chr8:
3229637-3229637		GCintronicDe novo--Yuen2017 G
CSMD1     2-1177-003chr8:
5282635-5282635		GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     1-0638-003chr8:
4053734-4053756		AAAATAAATAAATAAATAAATAAAAAATAAATAAATAAATAAintronicDe novo--Yuen2017 G
CSMD1     AU3846303chr8:
3590239-3590239		TAintronicDe novo--Yuen2017 G
CSMD1     2-1460-003chr8:
5032931-5032931		TCintergenicDe novo--Yuen2017 G
CSMD1     AU3846303chr8:
5229960-5229960		AGintergenicDe novo--Yuen2017 G
CSMD1     2-1094-005chr8:
2943584-2943584		CTintronicDe novo--Yuen2017 G
CSMD1     Y6P6Jchr8:
2836280-2836280		CTexonicUnknownnonsynonymous SNVNM_033225c.G8420Ap.R2807H15.081.803E-5Stessman2017 T
CSMD1     AU2109302chr8:
6030575-6030575		TCintergenicDe novo--Yuen2017 G
CSMD1     2-1765-003chr8:
2813253-2813253		CTexonicsynonymous SNVNM_033225c.G9852Ap.A3284A0.1566.629E-5Zhou2022 GE
CSMD1     AU2029303chr8:
4707812-4707812		ACintronicDe novo--Yuen2017 G
CSMD1     MSSNG00379-003chr8:
2811754-2811754		TAexonicnonsynonymous SNVNM_033225c.A10031Tp.K3344I16.67-Zhou2022 GE
CSMD1     SP0044547chr8:
4495084-4495084		GCintronic--Zhou2022 GE
CSMD1     AU047703chr8:
5834677-5834677		GAintergenicDe novo--Yuen2017 G
CSMD1     SP0114837chr8:
3326333-3326333		TCexonicnonsynonymous SNVNM_033225c.A1462Gp.S488G12.78-Zhou2022 GE
CSMD1     3C548chr8:
3216817-3216817		CAexonicDe novononsynonymous SNVNM_033225c.G3161Tp.S1054I24.7-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CSMD1     2-0299-005chr8:
5755444-5755444		TTAATCintergenicDe novo--Yuen2017 G
CSMD1     AU1987304chr8:
5237064-5237064		TGintergenicDe novo--Yuen2017 G
CSMD1     ASC_CA_181_Achr8:
3265421-3265421		TCexonicDe novononsynonymous SNVNM_033225c.A2071Gp.T691A21.6-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CSMD1     2-1317-003chr8:
5727830-5727830		CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     AU4007301chr8:
4235854-4235854		TAintronicDe novo--Yuen2017 G
CSMD1     2-1215-003chr8:
5615500-5615500		TAintergenicDe novo--Yuen2017 G
CSMD1     AU072504chr8:
5255297-5255297		GAintergenicDe novo--Yuen2017 G
CSMD1     AU4228302chr8:
4418919-4418919		TAintronicDe novo--Yuen2017 G
CSMD1     AU4228302chr8:
6021077-6021077		GAintergenicDe novo--Yuen2017 G
CSMD1     188-03-100416chr8:
3057284-3057284		TAexonicDe novononsynonymous SNVNM_033225c.A5146Tp.S1716C20.3-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CSMD1     7-0255-003chr8:
6041809-6041809		AGintergenicDe novo--Yuen2017 G
CSMD1     AU4306302chr8:
3023971-3023971		GAintronicDe novo--Yuen2017 G
CSMD1     AU057405chr8:
4007216-4007216		GCintronicDe novo--Yuen2017 G
CSMD1     14370.p1chr8:
3192222-3192222		GAintronicDe novo--Turner2016 G
CSMD1     AU066404chr8:
3630997-3630997		TCintronicDe novo--Yuen2017 G
CSMD1     AU066404chr8:
6238005-6238005		AGintergenicDe novo--Yuen2017 G
CSMD1     14496.p1chr8:
6007570-6007570		TAintergenicDe novo--Turner2016 G
CSMD1     2-1466-003chr8:
3416043-3416043		GCintronicDe novo--Yuen2017 G
CSMD1     2-1466-003chr8:
3416038-3416038		AGintronicDe novo--Yuen2017 G
CSMD1     12498.p1chr8:
3693168-3693168		GAintronicDe novo--Turner2016 G
CSMD1     AU3907302chr8:
3429544-3429544		GCintronicDe novo--Yuen2017 G
CSMD1     14642.p1chr8:
5213785-5213785		ATintergenicDe novo--Turner2016 G
CSMD1     7-0023-003chr8:
5965812-5965812		GAintergenicDe novo--Yuen2017 G
CSMD1     AU0540301chr8:
3203356-3203356		TGintronicDe novo--Yuen2017 G
CSMD1     2-1409-003chr8:
5518808-5518808		GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     AU0540301chr8:
5286261-5286261		TGintergenicDe novo--Yuen2017 G
CSMD1     2-1364-003chr8:
5124894-5124894		GTintergenicDe novo--Yuen2017 G
CSMD1     M16119chr8:
2796128-2796128		GTexonicUnknownnonsynonymous SNVNM_033225c.C10674Ap.N3558K27.8-Stessman2017 T
CSMD1     M16226chr8:
2813237-2813237		CTexonicUnknownnonsynonymous SNVNM_033225c.G9868Ap.D3290N15.031.656E-5Stessman2017 T
CSMD1     2-1337-003chr8:
4729450-4729450		TCintronicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     AU2569303chr8:
5231675-5231675		TAintergenicDe novo--Yuen2017 G
CSMD1     7-0104-003chr8:
3208540-3208540		TGintronicDe novo--Yuen2017 G
CSMD1     7-0248-003chr8:
4878283-4878283		CTintergenicDe novo--Yuen2017 G
CSMD1     AU2863303chr8:
2892700-2892700		TCintronicDe novo--Yuen2017 G
CSMD1     2-1281-003chr8:
5115797-5115797		TAintergenicDe novo--Yuen2017 G
CSMD1     A19chr8:
3159216-3159216		CTintronicDe novo--Wu2018 G
CSMD1     5-0131-003chr8:
4272361-4272361		AGintronicDe novo--Yuen2017 G
CSMD1     1-0565-004chr8:
5060330-5060330		AGintergenicDe novo--Yuen2017 G
CSMD1     AU3807302chr8:
6176889-6176889		GCintergenicDe novo--Yuen2017 G
CSMD1     2-1350-004chr8:
4436291-4436291		GAintronicDe novo--Yuen2017 G
CSMD1     AU3807302chr8:
6178084-6178084		GAintergenicDe novo--Yuen2017 G
CSMD1     210-18227-302chr8:
2823423-2823423		CTexonicUnknownnonsynonymous SNVNM_033225c.G9154Ap.D3052N24.12.36E-5Stessman2017 T
CSMD1     AU4231301chr8:
4668168-4668168		GCintronicDe novo--Yuen2017 G
CSMD1     1-0272-004chr8:
4872890-4872890		CTintergenicDe novo--Yuen2017 G
CSMD1     A2chr8:
5569229-5569229		CTintergenicDe novo--Wu2018 G
CSMD1     AU3716302chr8:
3170025-3170025		GCintronicDe novo--Yuen2017 G
CSMD1     7-0188-003chr8:
5242015-5242015		CAintergenicDe novo--Yuen2017 G
CSMD1     2-1730-003chr8:
4115379-4115379		CGintronicDe novo--Yuen2017 G
CSMD1     2-0318-003chr8:
3509877-3509877		GGAGCACCTACCACintronicDe novo--Yuen2017 G
CSMD1     AC04-1008-04chr8:
3265577-3265577		CTexonicDe novononsynonymous SNVNM_033225c.G1915Ap.A639T4.4461.658E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CSMD1     2-0214-003chr8:
5221061-5221061		GAintergenicDe novo--Yuen2017 G
CSMD1     1-0022-004chr8:
2831598-2831598		AGintronicDe novo--Yuen2017 G
CSMD1     AU006804chr8:
3324692-3324692		GCintronicDe novo--Yuen2017 G
CSMD1     AU1988302chr8:
5671679-5671679		CGintergenicDe novo--Yuen2017 G
CSMD1     1-0353-003chr8:
2959078-2959078		GCintronicDe novo--Yuen2017 G
CSMD1     AU1988302chr8:
5678128-5678128		ATintergenicDe novo--Yuen2017 G
CSMD1     AU1988302chr8:
5683937-5683937		CGintergenicDe novo--Yuen2017 G
CSMD1     AU1988302chr8:
5685374-5685374		AGintergenicDe novo--Yuen2017 G
CSMD1     AU1988302chr8:
5685671-5685671		AGintergenicDe novo--Yuen2017 G
CSMD1     2-0102-004chr8:
4820252-4820252		GTintronicDe novo--Yuen2017 G
CSMD1     2-1228-003chr8:
4943979-4943979		ATintergenicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     AU3779302chr8:
3152098-3152098		GAintronicDe novo--Yuen2017 G
CSMD1     1-0417-003chr8:
5734139-5734139		ACintergenicDe novo--Yuen2017 G
CSMD1     1-0467-003chr8:
3703845-3703845		CGintronicDe novo--Yuen2017 G
CSMD1     1-0210-004chr8:
4354112-4354112		GCintronicDe novo--Yuen2017 G
CSMD1     AU058103chr8:
3638597-3638597		GAintronicDe novo--Yuen2017 G
CSMD1     AU4487302chr8:
5703318-5703321		CATGCintergenicDe novo--Yuen2017 G
CSMD1     7-0191-003chr8:
3046624-3046624		TCintronicDe novo--Yuen2017 G
CSMD1     1-0112-004chr8:
6183429-6183429		AAGintergenicDe novo--Yuen2017 G
CSMD1     1-0513-003chr8:
5325585-5325585		CTintergenicDe novo--Yuen2017 G
CSMD1     2-0318-004chr8:
3509877-3509877		GGAGCACCTACCACintronicDe novo--Yuen2017 G
CSMD1     AU4093301chr8:
3415772-3415772		AGintronicDe novo--Yuen2017 G
CSMD1     2-0704-003chr8:
4262580-4262580		TGintronicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     2-0704-003chr8:
4374551-4374551		GAintronicDe novo--Yuen2016 G
Yuen2017 G
CSMD1     1-0558-003chr8:
4875514-4875514		CTintergenicDe novo--Yuen2017 G
CSMD1     1-0490-003chr8:
3306831-3306831		GAintronicDe novo--Yuen2017 G
CSMD1     1-0490-003chr8:
3306082-3306082		GCintronicDe novo--Yuen2017 G
CSMD1     217-14301-4220chr8:
2806838-2806838		ATexonicUnknownnonsynonymous SNVNM_033225c.T10385Ap.F3462Y18.88-Stessman2017 T
CSMD1     AU3635301chr8:
5397883-5397883		TCintergenicDe novo--Yuen2017 G
CSMD1     AU015903chr8:
3567808-3567808		AGintronicDe novo--Yuen2017 G
CSMD1     AU015903chr8:
3580701-3580701		CTintronicDe novo--Yuen2017 G
CSMD1     AU015903chr8:
3584442-3584442		CGintronicDe novo--Yuen2017 G
CSMD1     AU015903chr8:
3592620-3592620		CTintronicDe novo--Yuen2017 G
CSMD1     AU007503chr8:
5227923-5227923		TAintergenicDe novo--Yuen2017 G
CSMD1     60-2027chr8:
3282097-3282097		AGintronicDe novo--Michaelson2012 G
CSMD1     AU015903chr8:
5289975-5289975		AGintergenicDe novo--Yuen2017 G
CSMD1     74-0355chr8:
3885235-3885235		GTintronicDe novo--Michaelson2012 G
CSMD1     AU048206chr8:
3325688-3325688		GAintronicDe novo--Yuen2017 G
CSMD1     AU048206chr8:
3325722-3325722		ACintronicDe novo--Yuen2017 G
CSMD1     60-2027chr8:
4133844-4133844		CTintronicInherited--Michaelson2012 G
CSMD1     74-0075chr8:
5227923-5227923		TAintergenicDe novo--Michaelson2012 G
CSMD1     74-0355chr8:
3905290-3905290		GCintronicDe novo--Michaelson2012 G
CSMD1     60-2027chr8:
4128798-4128798		GTintronicDe novo--Michaelson2012 G
CSMD1     74-0355chr8:
5903507-5903507		ATintergenicDe novo--Michaelson2012 G
CSMD1     5-0137-003chr8:
3336261-3336261		CGintronicDe novo--Yuen2017 G
CSMD1     AU3874302chr8:
3999988-3999988		TCintronicDe novo--Yuen2017 G
CSMD1     1-0051-005chr8:
3324751-3324751		GAintronicDe novo--Yuen2017 G
CSMD1     1-0321-004chr8:
5589868-5589868		GGTAintergenicDe novo--Yuen2017 G
CSMD1     5-0077-003chr8:
5398683-5398683		TAintergenicDe novo--Yuen2017 G
CSMD1     1-0652-003chr8:
4361205-4361205		CTintronicDe novo--Yuen2017 G
CSMD1     A8chr8:
3750149-3750149		CAintronicDe novo--Wu2018 G
CSMD1     2-0289-003chr8:
3734555-3734555		GAintronicDe novo--Yuen2017 G
CSMD1     2-1120-003chr8:
5549588-5549588		GAintergenicDe novo--Yuen2017 G
CSMD1     AU2950302chr8:
5297043-5297043		CGintergenicDe novo--Yuen2017 G
CSMD1     1-0520-003chr8:
3646720-3646720		CTintronicDe novo--Yuen2017 G
CSMD1     2-1355-004chr8:
5313088-5313088		GTintergenicDe novo--Yuen2017 G
CSMD1     AU4314302chr8:
6186191-6186191		GAintergenicDe novo--Yuen2017 G
CSMD1     AU031403chr8:
3221514-3221514		GCintronicDe novo--Yuen2017 G
CSMD1     AU3053301chr8:
4626420-4626420		TCintronicDe novo--Yuen2017 G
CSMD1     13742.p1chr8:
3674758-3674758		GGTCAintronicMaternal--Wilfert2021 G
CSMD1     2-1235-003chr8:
4441684-4441684		GTintronicDe novo--Yuen2017 G
CSMD1     2-1235-003chr8:
4431869-4431869		GCintronicDe novo--Yuen2017 G
CSMD1     2-1366-004chr8:
4778611-4778611		AAGAAGintronicDe novo--Yuen2017 G
CSMD1     1-0567-003chr8:
6141094-6141094		AACATTCATCCACCCATCCATCCGTCCATTCGTCCATCCATTintergenicDe novo--Yuen2017 G
CSMD1     2-1417-003chr8:
5254811-5254811		AGintergenicDe novo--Yuen2017 G
CSMD1     AU3782302chr8:
5226308-5226308		GCintergenicDe novo--Yuen2017 G
CSMD1     AU3782302chr8:
5232474-5232474		GAintergenicDe novo--Yuen2017 G
CSMD1     MCD-015-3chr8:
3087702-3087702		CTexonicPaternalnonsynonymous SNVNM_033225c.G4205Ap.R1402H33.0-Tuncay2023 G
CSMD1     1-0160-004chr8:
4451503-4451503		CGintronicDe novo--Yuen2017 G
CSMD1     1-0233-004chr8:
5346155-5346155		GTintergenicDe novo--Yuen2017 G
CSMD1     1-0160-004chr8:
4238979-4238979		CTintronicDe novo--Yuen2017 G
CSMD1     AU017304chr8:
4299792-4299792		AGintronicDe novo--Yuen2017 G
CSMD1     5-0138-003chr8:
5149245-5149245		GTintergenicDe novo--Yuen2017 G
CSMD1     13266.p1chr8:
3166067-3166067		GAintronicDe novo--Satterstrom2020 E
CSMD1     1-0433-004chr8:
4935346-4935346		GCintergenicDe novo--Yuen2017 G
CSMD1     1-0469-003chr8:
3875170-3875170		GCintronicDe novo--Yuen2017 G
CSMD1     1-0382-003chr8:
3622465-3622465		AGintronicDe novo--Yuen2017 G
CSMD1     AC02-1124-01chr8:
2944609-2944609		CAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
CSMD1     AU1909304chr8:
4676548-4676548		ATintronicDe novo--Yuen2017 G
CSMD1     9190758chr8:
3071992-3071992		CTintronicDe novo--Fu2022 E
CSMD1     3025_18AUchr8:
3889611-3889611		GAexonicDe novosynonymous SNVNM_033225c.C426Tp.S142S-8.364E-6Fu2022 E
CSMD1     5-0110-003chr8:
3488693-3488693		CGintronicDe novo--Yuen2017 G
CSMD1     5-0110-003chr8:
4668923-4668923		AGintronicDe novo--Yuen2017 G
CSMD1     09C85771chr8:
3565901-3565901		GCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
CSMD1     1-0820-003chr8:
3582022-3582022		TCintronicDe novo--Yuen2017 G
CSMD1     2-1702-004chr8:
5012511-5012511		TAintergenicDe novo--Yuen2017 G
CSMD1     7-0032-003chr8:
5160323-5160323		AGintergenicDe novo--Yuen2017 G
CSMD1     SSC12117chr8:
3046533-3046533		ATexonicDe novononsynonymous SNVNM_033225c.T5399Ap.V1800E16.27-Fu2022 E
Lim2017 E
Trost2022 G
CSMD1     2-1632-003chr8:
3596549-3596555		CTTTTTTCTTTTTTTintronicDe novo--Yuen2017 G
CSMD1     7-0032-003chr8:
5173485-5173485		TCintergenicDe novo--Yuen2017 G
CSMD1     SSC07229chr8:
2965314-2965314		TCexonicDe novononsynonymous SNVNM_033225c.A6761Gp.Q2254R1.421-Fu2022 E
Lim2017 E
Trost2022 G
CSMD1     2-1632-003chr8:
3301344-3301344		TAintronicDe novo--Yuen2017 G
CSMD1     7-0032-003chr8:
5186409-5186409		GTintergenic