Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11041305A>CCA404072666SMARCA4c.4267-2A>C (n.4267-2A>C)
c.4171-2A>C (n.4171-2A>C)
c.4072-2A>C (n.4072-2A>C)
c.336A>C
c.298-2A>C (n.298-2A>C)
c.112-2A>C (n.112-2A>C)
n.2410A>C
c.2663A>C (p.Lys888Thr)
c.1628-2A>C
c.4168-2A>C (n.4168-2A>C)
c.2728-2A>C (n.2728-2A>C)
c.4079A>C (p.Lys1360Thr)
c.2456-2A>C
c.4175A>C (p.Lys1392Thr)
c.2533A>C
n.662A>C
c.3592A>C
c.2806A>C
c.2843-2A>C
c.2823A>C
c.2659-2A>C (n.2659-2A>C)
c.720-2A>C
c.2082-2A>C (n.2082-2A>C)
c.2514-2A>C
c.2019-2A>C (n.2019-2A>C)
c.2471-2A>C
n.672A>C
c.2425-2A>C (n.2425-2A>C)
c.4271A>C (p.Lys1424Thr)
n.483A>C
n.2607A>C
n.2144-2A>C
c.248A>C (p.Lys83Thr)
n.1992A>C
c.4178A>C (p.Lys1393Thr)
n.4561-2A>C
19g.11041305A>GCA404072660SMARCA4c.4267-2A>G (n.4267-2A>G)
c.4171-2A>G (n.4171-2A>G)
c.4072-2A>G (n.4072-2A>G)
c.336A>G
c.298-2A>G (n.298-2A>G)
c.112-2A>G (n.112-2A>G)
n.2410A>G
c.2663A>G (p.Lys888Arg)
c.1628-2A>G
c.4168-2A>G (n.4168-2A>G)
c.2728-2A>G (n.2728-2A>G)
c.4079A>G (p.Lys1360Arg)
c.2456-2A>G
c.4175A>G (p.Lys1392Arg)
c.2533A>G
n.662A>G
c.3592A>G
c.2806A>G
c.2843-2A>G
c.2823A>G
c.2659-2A>G (n.2659-2A>G)
c.720-2A>G
c.2082-2A>G (n.2082-2A>G)
c.2514-2A>G
c.2019-2A>G (n.2019-2A>G)
c.2471-2A>G
n.672A>G
c.2425-2A>G (n.2425-2A>G)
c.4271A>G (p.Lys1424Arg)
n.483A>G
n.2607A>G
n.2144-2A>G
c.248A>G (p.Lys83Arg)
n.1992A>G
c.4178A>G (p.Lys1393Arg)
n.4561-2A>G
 ClinVar dbSNP
19g.11041305A>TCA404072663SMARCA4c.4267-2A>T (n.4267-2A>T)
c.4171-2A>T (n.4171-2A>T)
c.4072-2A>T (n.4072-2A>T)
c.336A>T
c.298-2A>T (n.298-2A>T)
c.112-2A>T (n.112-2A>T)
n.2410A>T
c.2663A>T (p.Lys888Met)
c.1628-2A>T
c.4168-2A>T (n.4168-2A>T)
c.2728-2A>T (n.2728-2A>T)
c.4079A>T (p.Lys1360Met)
c.2456-2A>T
c.4175A>T (p.Lys1392Met)
c.2533A>T
n.662A>T
c.3592A>T
c.2806A>T
c.2843-2A>T
c.2823A>T
c.2659-2A>T (n.2659-2A>T)
c.720-2A>T
c.2082-2A>T (n.2082-2A>T)
c.2514-2A>T
c.2019-2A>T (n.2019-2A>T)
c.2471-2A>T
n.672A>T
c.2425-2A>T (n.2425-2A>T)
c.4271A>T (p.Lys1424Met)
n.483A>T
n.2607A>T
n.2144-2A>T
c.248A>T (p.Lys83Met)
n.1992A>T
c.4178A>T (p.Lys1393Met)
n.4561-2A>T
 dbSNP
19g.11041306G>ACA404072669SMARCA4c.4267-1G>A (n.4267-1G>A)
c.4171-1G>A (n.4171-1G>A)
c.4072-1G>A (n.4072-1G>A)
c.337G>A
c.298-1G>A (n.298-1G>A)
c.112-1G>A (n.112-1G>A)
n.2411G>A
c.2664G>A (p.Lys888=)
c.1628-1G>A
c.4168-1G>A (n.4168-1G>A)
c.2728-1G>A (n.2728-1G>A)
c.4080G>A (p.Lys1360=)
c.2456-1G>A
c.4176G>A (p.Lys1392=)
c.2534G>A
n.663G>A
c.3593G>A
c.2807G>A
c.2843-1G>A
c.2824G>A
c.2659-1G>A (n.2659-1G>A)
c.720-1G>A
c.2082-1G>A (n.2082-1G>A)
c.2514-1G>A
c.2019-1G>A (n.2019-1G>A)
c.2471-1G>A
n.673G>A
c.2425-1G>A (n.2425-1G>A)
c.4272G>A (p.Lys1424=)
n.484G>A
n.2608G>A
n.2144-1G>A
c.249G>A (p.Lys83=)
n.1993G>A
c.4179G>A (p.Lys1393=)
n.4561-1G>A
 dbSNP
19g.11041306G>CCA404072671SMARCA4c.4267-1G>C (n.4267-1G>C)
c.4171-1G>C (n.4171-1G>C)
c.4072-1G>C (n.4072-1G>C)
c.337G>C
c.298-1G>C (n.298-1G>C)
c.112-1G>C (n.112-1G>C)
n.2411G>C
c.2664G>C (p.Lys888Asn)
c.1628-1G>C
c.4168-1G>C (n.4168-1G>C)
c.2728-1G>C (n.2728-1G>C)
c.4080G>C (p.Lys1360Asn)
c.2456-1G>C
c.4176G>C (p.Lys1392Asn)
c.2534G>C
n.663G>C
c.3593G>C
c.2807G>C
c.2843-1G>C
c.2824G>C
c.2659-1G>C (n.2659-1G>C)
c.720-1G>C
c.2082-1G>C (n.2082-1G>C)
c.2514-1G>C
c.2019-1G>C (n.2019-1G>C)
c.2471-1G>C
n.673G>C
c.2425-1G>C (n.2425-1G>C)
c.4272G>C (p.Lys1424Asn)
n.484G>C
n.2608G>C
n.2144-1G>C
c.249G>C (p.Lys83Asn)
n.1993G>C
c.4179G>C (p.Lys1393Asn)
n.4561-1G>C
 dbSNP
19g.11041306G>TCA404072672SMARCA4c.4267-1G>T (n.4267-1G>T)
c.4171-1G>T (n.4171-1G>T)
c.4072-1G>T (n.4072-1G>T)
c.337G>T
c.298-1G>T (n.298-1G>T)
c.112-1G>T (n.112-1G>T)
n.2411G>T
c.2664G>T (p.Lys888Asn)
c.1628-1G>T
c.4168-1G>T (n.4168-1G>T)
c.2728-1G>T (n.2728-1G>T)
c.4080G>T (p.Lys1360Asn)
c.2456-1G>T
c.4176G>T (p.Lys1392Asn)
c.2534G>T
n.663G>T
c.3593G>T
c.2807G>T
c.2843-1G>T
c.2824G>T
c.2659-1G>T (n.2659-1G>T)
c.720-1G>T
c.2082-1G>T (n.2082-1G>T)
c.2514-1G>T
c.2019-1G>T (n.2019-1G>T)
c.2471-1G>T
n.673G>T
c.2425-1G>T (n.2425-1G>T)
c.4272G>T (p.Lys1424Asn)
n.484G>T
n.2608G>T
n.2144-1G>T
c.249G>T (p.Lys83Asn)
n.1993G>T
c.4179G>T (p.Lys1393Asn)
n.4561-1G>T
 dbSNP gnomAD v4
19g.11041307G>ACA404072673SMARCA4c.4267G>A (p.Ala1423Thr)
c.4171G>A (p.Ala1391Thr)
c.4072G>A (p.Ala1358Thr)
c.338G>A
c.298G>A (p.Ala100Thr)
c.112G>A (p.Ala38Thr)
n.2412G>A
c.2665G>A (p.Ala889Thr)
c.1628G>A
c.4168G>A (p.Ala1390Thr)
c.2728G>A (p.Ala910Thr)
c.4081G>A (p.Ala1361Thr)
c.2456G>A
c.4177G>A (p.Ala1393Thr)
c.2535G>A
n.664G>A
c.3594G>A
c.2808G>A
c.2843G>A
c.2825G>A
c.2659G>A (p.Ala887Thr)
c.720G>A
c.2082G>A (n.2082G>A)
c.2514G>A
c.2019G>A (n.2019G>A)
c.2471G>A
n.674G>A
c.2425G>A (p.Ala809Thr)
c.4273G>A (p.Ala1425Thr)
n.485G>A
n.2609G>A
n.2144G>A
c.250G>A (p.Ala84Thr)
n.1994G>A
c.4180G>A (p.Ala1394Thr)
n.4561G>A
 dbSNP
19g.11041307G>CCA404072674SMARCA4c.4267G>C (p.Ala1423Pro)
c.4171G>C (p.Ala1391Pro)
c.4072G>C (p.Ala1358Pro)
c.338G>C
c.298G>C (p.Ala100Pro)
c.112G>C (p.Ala38Pro)
n.2412G>C
c.2665G>C (p.Ala889Pro)
c.1628G>C
c.4168G>C (p.Ala1390Pro)
c.2728G>C (p.Ala910Pro)
c.4081G>C (p.Ala1361Pro)
c.2456G>C
c.4177G>C (p.Ala1393Pro)
c.2535G>C
n.664G>C
c.3594G>C
c.2808G>C
c.2843G>C
c.2825G>C
c.2659G>C (p.Ala887Pro)
c.720G>C
c.2082G>C (n.2082G>C)
c.2514G>C
c.2019G>C (n.2019G>C)
c.2471G>C
n.674G>C
c.2425G>C (p.Ala809Pro)
c.4273G>C (p.Ala1425Pro)
n.485G>C
n.2609G>C
n.2144G>C
c.250G>C (p.Ala84Pro)
n.1994G>C
c.4180G>C (p.Ala1394Pro)
n.4561G>C
19g.11041307G>TCA404072678SMARCA4c.4267G>T (p.Ala1423Ser)
c.4171G>T (p.Ala1391Ser)
c.4072G>T (p.Ala1358Ser)
c.338G>T
c.298G>T (p.Ala100Ser)
c.112G>T (p.Ala38Ser)
n.2412G>T
c.2665G>T (p.Ala889Ser)
c.1628G>T
c.4168G>T (p.Ala1390Ser)
c.2728G>T (p.Ala910Ser)
c.4081G>T (p.Ala1361Ser)
c.2456G>T
c.4177G>T (p.Ala1393Ser)
c.2535G>T
n.664G>T
c.3594G>T
c.2808G>T
c.2843G>T
c.2825G>T
c.2659G>T (p.Ala887Ser)
c.720G>T
c.2082G>T (n.2082G>T)
c.2514G>T
c.2019G>T (n.2019G>T)
c.2471G>T
n.674G>T
c.2425G>T (p.Ala809Ser)
c.4273G>T (p.Ala1425Ser)
n.485G>T
n.2609G>T
n.2144G>T
c.250G>T (p.Ala84Ser)
n.1994G>T
c.4180G>T (p.Ala1394Ser)
n.4561G>T
 gnomAD v4
19g.11041308C>ACA404072681SMARCA4c.4268C>A (p.Ala1423Asp)
c.4172C>A (p.Ala1391Asp)
c.4073C>A (p.Ala1358Asp)
c.339C>A
c.299C>A (p.Ala100Asp)
c.113C>A (p.Ala38Asp)
n.2413C>A
c.2666C>A (p.Ala889Asp)
c.1629C>A
c.4169C>A (p.Ala1390Asp)
c.2729C>A (p.Ala910Asp)
c.4082C>A (p.Ala1361Asp)
c.2457C>A
c.4178C>A (p.Ala1393Asp)
c.2536C>A
n.665C>A
c.3595C>A
c.2809C>A
c.2844C>A
c.2826C>A
c.2660C>A (p.Ala887Asp)
c.721C>A
c.2083C>A (n.2083C>A)
c.2515C>A
c.2020C>A (n.2020C>A)
c.2472C>A
n.675C>A
c.2426C>A (p.Ala809Asp)
c.4274C>A (p.Ala1425Asp)
n.486C>A
n.2610C>A
n.2145C>A
c.251C>A (p.Ala84Asp)
n.1995C>A
c.4181C>A (p.Ala1394Asp)
n.4562C>A
 dbSNP
19g.11041308C=CA2322735048SMARCA4c.4268C= (p.Ala1423=)
c.4172C= (p.Ala1391=)
c.4073C= (p.Ala1358=)
c.339C=
c.299C= (p.Ala100=)
c.113C= (p.Ala38=)
n.2413C=
c.2666C= (p.Ala889=)
c.1629C=
c.4169C= (p.Ala1390=)
c.2729C= (p.Ala910=)
c.4082C= (p.Ala1361=)
c.2457C=
c.4178C= (p.Ala1393=)
c.2536C=
n.665C=
c.3595C=
c.2809C=
c.2844C=
c.2826C=
c.2660C= (p.Ala887=)
c.721C=
c.2083C= (n.2083C=)
c.2515C=
c.2020C= (n.2020C=)
c.2472C=
n.675C=
c.2426C= (p.Ala809=)
c.4274C= (p.Ala1425=)
n.486C=
n.2610C=
n.2145C=
c.251C= (p.Ala84=)
n.1995C=
c.4181C= (p.Ala1394=)
n.4562C=
19g.11041308C>GCA404072683SMARCA4c.4268C>G (p.Ala1423Gly)
c.4172C>G (p.Ala1391Gly)
c.4073C>G (p.Ala1358Gly)
c.339C>G
c.299C>G (p.Ala100Gly)
c.113C>G (p.Ala38Gly)
n.2413C>G
c.2666C>G (p.Ala889Gly)
c.1629C>G
c.4169C>G (p.Ala1390Gly)
c.2729C>G (p.Ala910Gly)
c.4082C>G (p.Ala1361Gly)
c.2457C>G
c.4178C>G (p.Ala1393Gly)
c.2536C>G
n.665C>G
c.3595C>G
c.2809C>G
c.2844C>G
c.2826C>G
c.2660C>G (p.Ala887Gly)
c.721C>G
c.2083C>G (n.2083C>G)
c.2515C>G
c.2020C>G (n.2020C>G)
c.2472C>G
n.675C>G
c.2426C>G (p.Ala809Gly)
c.4274C>G (p.Ala1425Gly)
n.486C>G
n.2610C>G
n.2145C>G
c.251C>G (p.Ala84Gly)
n.1995C>G
c.4181C>G (p.Ala1394Gly)
n.4562C>G
 ClinVar dbSNP
19g.11041308C>TCA404072685SMARCA4c.4268C>T (p.Ala1423Val)
c.4172C>T (p.Ala1391Val)
c.4073C>T (p.Ala1358Val)
c.339C>T
c.299C>T (p.Ala100Val)
c.113C>T (p.Ala38Val)
n.2413C>T
c.2666C>T (p.Ala889Val)
c.1629C>T
c.4169C>T (p.Ala1390Val)
c.2729C>T (p.Ala910Val)
c.4082C>T (p.Ala1361Val)
c.2457C>T
c.4178C>T (p.Ala1393Val)
c.2536C>T
n.665C>T
c.3595C>T
c.2809C>T
c.2844C>T
c.2826C>T
c.2660C>T (p.Ala887Val)
c.721C>T
c.2083C>T (n.2083C>T)
c.2515C>T
c.2020C>T (n.2020C>T)
c.2472C>T
n.675C>T
c.2426C>T (p.Ala809Val)
c.4274C>T (p.Ala1425Val)
n.486C>T
n.2610C>T
n.2145C>T
c.251C>T (p.Ala84Val)
n.1995C>T
c.4181C>T (p.Ala1394Val)
n.4562C>T
 dbSNP gnomAD v4
19g.11041309C>ACA505743788SMARCA4c.4269C>A (p.Ala1423=)
c.4173C>A (p.Ala1391=)
c.4074C>A (p.Ala1358=)
c.340C>A
c.300C>A (p.Ala100=)
c.114C>A (p.Ala38=)
n.2414C>A
c.2667C>A (p.Ala889=)
c.1630C>A
c.4170C>A (p.Ala1390=)
c.2730C>A (p.Ala910=)
c.4083C>A (p.Ala1361=)
c.2458C>A
c.4179C>A (p.Ala1393=)
c.2537C>A
n.666C>A
c.3596C>A
c.2810C>A
c.2845C>A
c.2827C>A
c.2661C>A (p.Ala887=)
c.722C>A
c.2084C>A (n.2084C>A)
c.2516C>A
c.2021C>A (n.2021C>A)
c.2473C>A
n.676C>A
c.2427C>A (p.Ala809=)
c.4275C>A (p.Ala1425=)
n.487C>A
n.2611C>A
n.2146C>A
c.252C>A (p.Ala84=)
n.1996C>A
c.4182C>A (p.Ala1394=)
n.4563C>A
19g.11041309C=CA2322735051SMARCA4c.4269C= (p.Ala1423=)
c.4173C= (p.Ala1391=)
c.4074C= (p.Ala1358=)
c.340C=
c.300C= (p.Ala100=)
c.114C= (p.Ala38=)
n.2414C=
c.2667C= (p.Ala889=)
c.1630C=
c.4170C= (p.Ala1390=)
c.2730C= (p.Ala910=)
c.4083C= (p.Ala1361=)
c.2458C=
c.4179C= (p.Ala1393=)
c.2537C=
n.666C=
c.3596C=
c.2810C=
c.2845C=
c.2827C=
c.2661C= (p.Ala887=)
c.722C=
c.2084C= (n.2084C=)
c.2516C=
c.2021C= (n.2021C=)
c.2473C=
n.676C=
c.2427C= (p.Ala809=)
c.4275C= (p.Ala1425=)
n.487C=
n.2611C=
n.2146C=
c.252C= (p.Ala84=)
n.1996C=
c.4182C= (p.Ala1394=)
n.4563C=
19g.11041309C>GCA505743789SMARCA4c.4269C>G (p.Ala1423=)
c.4173C>G (p.Ala1391=)
c.4074C>G (p.Ala1358=)
c.340C>G
c.300C>G (p.Ala100=)
c.114C>G (p.Ala38=)
n.2414C>G
c.2667C>G (p.Ala889=)
c.1630C>G
c.4170C>G (p.Ala1390=)
c.2730C>G (p.Ala910=)
c.4083C>G (p.Ala1361=)
c.2458C>G
c.4179C>G (p.Ala1393=)
c.2537C>G
n.666C>G
c.3596C>G
c.2810C>G
c.2845C>G
c.2827C>G
c.2661C>G (p.Ala887=)
c.722C>G
c.2084C>G (n.2084C>G)
c.2516C>G
c.2021C>G (n.2021C>G)
c.2473C>G
n.676C>G
c.2427C>G (p.Ala809=)
c.4275C>G (p.Ala1425=)
n.487C>G
n.2611C>G
n.2146C>G
c.252C>G (p.Ala84=)
n.1996C>G
c.4182C>G (p.Ala1394=)
n.4563C>G
 dbSNP
19g.11041309C>TCA505743790SMARCA4c.4269C>T (p.Ala1423=)
c.4173C>T (p.Ala1391=)
c.4074C>T (p.Ala1358=)
c.340C>T
c.300C>T (p.Ala100=)
c.114C>T (p.Ala38=)
n.2414C>T
c.2667C>T (p.Ala889=)
c.1630C>T
c.4170C>T (p.Ala1390=)
c.2730C>T (p.Ala910=)
c.4083C>T (p.Ala1361=)
c.2458C>T
c.4179C>T (p.Ala1393=)
c.2537C>T
n.666C>T
c.3596C>T
c.2810C>T
c.2845C>T
c.2827C>T
c.2661C>T (p.Ala887=)
c.722C>T
c.2084C>T (n.2084C>T)
c.2516C>T
c.2021C>T (n.2021C>T)
c.2473C>T
n.676C>T
c.2427C>T (p.Ala809=)
c.4275C>T (p.Ala1425=)
n.487C>T
n.2611C>T
n.2146C>T
c.252C>T (p.Ala84=)
n.1996C>T
c.4182C>T (p.Ala1394=)
n.4563C>T
 ClinVar dbSNP
19g.11041310A=CA2322735053SMARCA4c.4270A= (p.Ile1424=)
c.4174A= (p.Ile1392=)
c.4075A= (p.Ile1359=)
c.341A=
c.301A= (p.Ile101=)
c.115A= (p.Ile39=)
n.2415A=
c.2668A= (p.Ile890=)
c.1631A=
c.4171A= (p.Ile1391=)
c.2731A= (p.Ile911=)
c.4084A= (p.Ile1362=)
c.2459A=
c.4180A= (p.Ile1394=)
c.2538A=
n.667A=
c.3597A=
c.2811A=
c.2846A=
c.2828A=
c.2662A= (p.Ile888=)
c.723A=
c.2085A= (n.2085A=)
c.2517A=
c.2022A= (n.2022A=)
c.2474A=
n.677A=
c.2428A= (p.Ile810=)
c.4276A= (p.Ile1426=)
n.488A=
n.2612A=
n.2147A=
c.253A= (p.Ile85=)
n.1997A=
c.4183A= (p.Ile1395=)
n.4564A=
19g.11041310A>CCA404072687SMARCA4c.4270A>C (p.Ile1424Leu)
c.4174A>C (p.Ile1392Leu)
c.4075A>C (p.Ile1359Leu)
c.341A>C
c.301A>C (p.Ile101Leu)
c.115A>C (p.Ile39Leu)
n.2415A>C
c.2668A>C (p.Ile890Leu)
c.1631A>C
c.4171A>C (p.Ile1391Leu)
c.2731A>C (p.Ile911Leu)
c.4084A>C (p.Ile1362Leu)
c.2459A>C
c.4180A>C (p.Ile1394Leu)
c.2538A>C
n.667A>C
c.3597A>C
c.2811A>C
c.2846A>C
c.2828A>C
c.2662A>C (p.Ile888Leu)
c.723A>C
c.2085A>C (n.2085A>C)
c.2517A>C
c.2022A>C (n.2022A>C)
c.2474A>C
n.677A>C
c.2428A>C (p.Ile810Leu)
c.4276A>C (p.Ile1426Leu)
n.488A>C
n.2612A>C
n.2147A>C
c.253A>C (p.Ile85Leu)
n.1997A>C
c.4183A>C (p.Ile1395Leu)
n.4564A>C
19g.11041310A>GCA404072689SMARCA4c.4270A>G (p.Ile1424Val)
c.4174A>G (p.Ile1392Val)
c.4075A>G (p.Ile1359Val)
c.341A>G
c.301A>G (p.Ile101Val)
c.115A>G (p.Ile39Val)
n.2415A>G
c.2668A>G (p.Ile890Val)
c.1631A>G
c.4171A>G (p.Ile1391Val)
c.2731A>G (p.Ile911Val)
c.4084A>G (p.Ile1362Val)
c.2459A>G
c.4180A>G (p.Ile1394Val)
c.2538A>G
n.667A>G
c.3597A>G
c.2811A>G
c.2846A>G
c.2828A>G
c.2662A>G (p.Ile888Val)
c.723A>G
c.2085A>G (n.2085A>G)
c.2517A>G
c.2022A>G (n.2022A>G)
c.2474A>G
n.677A>G
c.2428A>G (p.Ile810Val)
c.4276A>G (p.Ile1426Val)
n.488A>G
n.2612A>G
n.2147A>G
c.253A>G (p.Ile85Val)
n.1997A>G
c.4183A>G (p.Ile1395Val)
n.4564A>G
 ClinVar dbSNP
19g.11041310A>TCA404072691SMARCA4c.4270A>T (p.Ile1424Phe)
c.4174A>T (p.Ile1392Phe)
c.4075A>T (p.Ile1359Phe)
c.341A>T
c.301A>T (p.Ile101Phe)
c.115A>T (p.Ile39Phe)
n.2415A>T
c.2668A>T (p.Ile890Phe)
c.1631A>T
c.4171A>T (p.Ile1391Phe)
c.2731A>T (p.Ile911Phe)
c.4084A>T (p.Ile1362Phe)
c.2459A>T
c.4180A>T (p.Ile1394Phe)
c.2538A>T
n.667A>T
c.3597A>T
c.2811A>T
c.2846A>T
c.2828A>T
c.2662A>T (p.Ile888Phe)
c.723A>T
c.2085A>T (n.2085A>T)
c.2517A>T
c.2022A>T (n.2022A>T)
c.2474A>T
n.677A>T
c.2428A>T (p.Ile810Phe)
c.4276A>T (p.Ile1426Phe)
n.488A>T
n.2612A>T
n.2147A>T
c.253A>T (p.Ile85Phe)
n.1997A>T
c.4183A>T (p.Ile1395Phe)
n.4564A>T
 dbSNP
19g.11041311T>ACA404072694SMARCA4c.4271T>A (p.Ile1424Asn)
c.4175T>A (p.Ile1392Asn)
c.4076T>A (p.Ile1359Asn)
c.342T>A
c.302T>A (p.Ile101Asn)
c.116T>A (p.Ile39Asn)
n.2416T>A
c.2669T>A (p.Ile890Asn)
c.1632T>A
c.4172T>A (p.Ile1391Asn)
c.2732T>A (p.Ile911Asn)
c.4085T>A (p.Ile1362Asn)
c.2460T>A
c.4181T>A (p.Ile1394Asn)
c.2539T>A
n.668T>A
c.3598T>A
c.2812T>A
c.2847T>A
c.2829T>A
c.2663T>A (p.Ile888Asn)
c.724T>A
c.2086T>A (n.2086T>A)
c.2518T>A
c.2023T>A (n.2023T>A)
c.2475T>A
n.678T>A
c.2429T>A (p.Ile810Asn)
c.4277T>A (p.Ile1426Asn)
n.489T>A
n.2613T>A
n.2148T>A
c.254T>A (p.Ile85Asn)
n.1998T>A
c.4184T>A (p.Ile1395Asn)
n.4565T>A
 dbSNP
19g.11041311T>CCA404072698SMARCA4c.4271T>C (p.Ile1424Thr)
c.4175T>C (p.Ile1392Thr)
c.4076T>C (p.Ile1359Thr)
c.342T>C
c.302T>C (p.Ile101Thr)
c.116T>C (p.Ile39Thr)
n.2416T>C
c.2669T>C (p.Ile890Thr)
c.1632T>C
c.4172T>C (p.Ile1391Thr)
c.2732T>C (p.Ile911Thr)
c.4085T>C (p.Ile1362Thr)
c.2460T>C
c.4181T>C (p.Ile1394Thr)
c.2539T>C
n.668T>C
c.3598T>C
c.2812T>C
c.2847T>C
c.2829T>C
c.2663T>C (p.Ile888Thr)
c.724T>C
c.2086T>C (n.2086T>C)
c.2518T>C
c.2023T>C (n.2023T>C)
c.2475T>C
n.678T>C
c.2429T>C (p.Ile810Thr)
c.4277T>C (p.Ile1426Thr)
n.489T>C
n.2613T>C
n.2148T>C
c.254T>C (p.Ile85Thr)
n.1998T>C
c.4184T>C (p.Ile1395Thr)
n.4565T>C
 dbSNP
19g.11041311T>GCA404072697SMARCA4c.4271T>G (p.Ile1424Ser)
c.4175T>G (p.Ile1392Ser)
c.4076T>G (p.Ile1359Ser)
c.342T>G
c.302T>G (p.Ile101Ser)
c.116T>G (p.Ile39Ser)
n.2416T>G
c.2669T>G (p.Ile890Ser)
c.1632T>G
c.4172T>G (p.Ile1391Ser)
c.2732T>G (p.Ile911Ser)
c.4085T>G (p.Ile1362Ser)
c.2460T>G
c.4181T>G (p.Ile1394Ser)
c.2539T>G
n.668T>G
c.3598T>G
c.2812T>G
c.2847T>G
c.2829T>G
c.2663T>G (p.Ile888Ser)
c.724T>G
c.2086T>G (n.2086T>G)
c.2518T>G
c.2023T>G (n.2023T>G)
c.2475T>G
n.678T>G
c.2429T>G (p.Ile810Ser)
c.4277T>G (p.Ile1426Ser)
n.489T>G
n.2613T>G
n.2148T>G
c.254T>G (p.Ile85Ser)
n.1998T>G
c.4184T>G (p.Ile1395Ser)
n.4565T>G
 dbSNP
19g.11041312C>ACA505743791SMARCA4c.4272C>A (p.Ile1424=)
c.4176C>A (p.Ile1392=)
c.4077C>A (p.Ile1359=)
c.343C>A
c.303C>A (p.Ile101=)
c.117C>A (p.Ile39=)
n.2417C>A
c.2670C>A (p.Ile890=)
c.1633C>A
c.4173C>A (p.Ile1391=)
c.2733C>A (p.Ile911=)
c.4086C>A (p.Ile1362=)
c.2461C>A
c.4182C>A (p.Ile1394=)
c.2540C>A
n.669C>A
c.3599C>A
c.2813C>A
c.2848C>A
c.2830C>A
c.2664C>A (p.Ile888=)
c.725C>A
c.2087C>A (n.2087C>A)
c.2519C>A
c.2024C>A (n.2024C>A)
c.2476C>A
n.679C>A
c.2430C>A (p.Ile810=)
c.4278C>A (p.Ile1426=)
n.490C>A
n.2614C>A
n.2149C>A
c.255C>A (p.Ile85=)
n.1999C>A
c.4185C>A (p.Ile1395=)
n.4566C>A
 dbSNP gnomAD v4
19g.11041312C=CA2322735055SMARCA4c.4272C= (p.Ile1424=)
c.4176C= (p.Ile1392=)
c.4077C= (p.Ile1359=)
c.343C=
c.303C= (p.Ile101=)
c.117C= (p.Ile39=)
n.2417C=
c.2670C= (p.Ile890=)
c.1633C=
c.4173C= (p.Ile1391=)
c.2733C= (p.Ile911=)
c.4086C= (p.Ile1362=)
c.2461C=
c.4182C= (p.Ile1394=)
c.2540C=
n.669C=
c.3599C=
c.2813C=
c.2848C=
c.2830C=
c.2664C= (p.Ile888=)
c.725C=
c.2087C= (n.2087C=)
c.2519C=
c.2024C= (n.2024C=)
c.2476C=
n.679C=
c.2430C= (p.Ile810=)
c.4278C= (p.Ile1426=)
n.490C=
n.2614C=
n.2149C=
c.255C= (p.Ile85=)
n.1999C=
c.4185C= (p.Ile1395=)
n.4566C=
19g.11041312C>GCA404072700SMARCA4c.4272C>G (p.Ile1424Met)
c.4176C>G (p.Ile1392Met)
c.4077C>G (p.Ile1359Met)
c.343C>G
c.303C>G (p.Ile101Met)
c.117C>G (p.Ile39Met)
n.2417C>G
c.2670C>G (p.Ile890Met)
c.1633C>G
c.4173C>G (p.Ile1391Met)
c.2733C>G (p.Ile911Met)
c.4086C>G (p.Ile1362Met)
c.2461C>G
c.4182C>G (p.Ile1394Met)
c.2540C>G
n.669C>G
c.3599C>G
c.2813C>G
c.2848C>G
c.2830C>G
c.2664C>G (p.Ile888Met)
c.725C>G
c.2087C>G (n.2087C>G)
c.2519C>G
c.2024C>G (n.2024C>G)
c.2476C>G
n.679C>G
c.2430C>G (p.Ile810Met)
c.4278C>G (p.Ile1426Met)
n.490C>G
n.2614C>G
n.2149C>G
c.255C>G (p.Ile85Met)
n.1999C>G
c.4185C>G (p.Ile1395Met)
n.4566C>G
 dbSNP
19g.11041312C>TCA9204670SMARCA4c.4272C>T (p.Ile1424=)
c.4176C>T (p.Ile1392=)
c.4077C>T (p.Ile1359=)
c.343C>T
c.303C>T (p.Ile101=)
c.117C>T (p.Ile39=)
n.2417C>T
c.2670C>T (p.Ile890=)
c.1633C>T
c.4173C>T (p.Ile1391=)
c.2733C>T (p.Ile911=)
c.4086C>T (p.Ile1362=)
c.2461C>T
c.4182C>T (p.Ile1394=)
c.2540C>T
n.669C>T
c.3599C>T
c.2813C>T
c.2848C>T
c.2830C>T
c.2664C>T (p.Ile888=)
c.725C>T
c.2087C>T (n.2087C>T)
c.2519C>T
c.2024C>T (n.2024C>T)
c.2476C>T
n.679C>T
c.2430C>T (p.Ile810=)
c.4278C>T (p.Ile1426=)
n.490C>T
n.2614C>T
n.2149C>T
c.255C>T (p.Ile85=)
n.1999C>T
c.4185C>T (p.Ile1395=)
n.4566C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041313G>ACA9204671SMARCA4c.4273G>A (p.Glu1425Lys)
c.4177G>A (p.Glu1393Lys)
c.4078G>A (p.Glu1360Lys)
c.344G>A
c.304G>A (p.Glu102Lys)
c.118G>A (p.Glu40Lys)
n.2418G>A
c.2671G>A (p.Glu891Lys)
c.1634G>A
c.4174G>A (p.Glu1392Lys)
c.2734G>A (p.Glu912Lys)
c.4087G>A (p.Glu1363Lys)
c.2462G>A
c.4183G>A (p.Glu1395Lys)
c.2541G>A
n.670G>A
c.3600G>A
c.2814G>A
c.2849G>A
c.2831G>A
c.2665G>A (p.Glu889Lys)
c.726G>A
c.2088G>A (n.2088G>A)
c.2520G>A
c.2025G>A (n.2025G>A)
c.2477G>A
n.680G>A
c.2431G>A (p.Glu811Lys)
c.4279G>A (p.Glu1427Lys)
n.491G>A
n.2615G>A
n.2150G>A
c.256G>A (p.Glu86Lys)
n.2000G>A
c.4186G>A (p.Glu1396Lys)
n.4567G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.11041313G>CCA404072706SMARCA4c.4273G>C (p.Glu1425Gln)
c.4177G>C (p.Glu1393Gln)
c.4078G>C (p.Glu1360Gln)
c.344G>C
c.304G>C (p.Glu102Gln)
c.118G>C (p.Glu40Gln)
n.2418G>C
c.2671G>C (p.Glu891Gln)
c.1634G>C
c.4174G>C (p.Glu1392Gln)
c.2734G>C (p.Glu912Gln)
c.4087G>C (p.Glu1363Gln)
c.2462G>C
c.4183G>C (p.Glu1395Gln)
c.2541G>C
n.670G>C
c.3600G>C
c.2814G>C
c.2849G>C
c.2831G>C
c.2665G>C (p.Glu889Gln)
c.726G>C
c.2088G>C (n.2088G>C)
c.2520G>C
c.2025G>C (n.2025G>C)
c.2477G>C
n.680G>C
c.2431G>C (p.Glu811Gln)
c.4279G>C (p.Glu1427Gln)
n.491G>C
n.2615G>C
n.2150G>C
c.256G>C (p.Glu86Gln)
n.2000G>C
c.4186G>C (p.Glu1396Gln)
n.4567G>C
 dbSNP
19g.11041313G=CA2322735057SMARCA4c.4273G= (p.Glu1425=)
c.4177G= (p.Glu1393=)
c.4078G= (p.Glu1360=)
c.344G=
c.304G= (p.Glu102=)
c.118G= (p.Glu40=)
n.2418G=
c.2671G= (p.Glu891=)
c.1634G=
c.4174G= (p.Glu1392=)
c.2734G= (p.Glu912=)
c.4087G= (p.Glu1363=)
c.2462G=
c.4183G= (p.Glu1395=)
c.2541G=
n.670G=
c.3600G=
c.2814G=
c.2849G=
c.2831G=
c.2665G= (p.Glu889=)
c.726G=
c.2088G= (n.2088G=)
c.2520G=
c.2025G= (n.2025G=)
c.2477G=
n.680G=
c.2431G= (p.Glu811=)
c.4279G= (p.Glu1427=)
n.491G=
n.2615G=
n.2150G=
c.256G= (p.Glu86=)
n.2000G=
c.4186G= (p.Glu1396=)
n.4567G=
19g.11041313G>TCA404072708SMARCA4c.4273G>T (p.Glu1425Ter)
c.4177G>T (p.Glu1393Ter)
c.4078G>T (p.Glu1360Ter)
c.344G>T
c.304G>T (p.Glu102Ter)
c.118G>T (p.Glu40Ter)
n.2418G>T
c.2671G>T (p.Glu891Ter)
c.1634G>T
c.4174G>T (p.Glu1392Ter)
c.2734G>T (p.Glu912Ter)
c.4087G>T (p.Glu1363Ter)
c.2462G>T
c.4183G>T (p.Glu1395Ter)
c.2541G>T
n.670G>T
c.3600G>T
c.2814G>T
c.2849G>T
c.2831G>T
c.2665G>T (p.Glu889Ter)
c.726G>T
c.2088G>T (n.2088G>T)
c.2520G>T
c.2025G>T (n.2025G>T)
c.2477G>T
n.680G>T
c.2431G>T (p.Glu811Ter)
c.4279G>T (p.Glu1427Ter)
n.491G>T
n.2615G>T
n.2150G>T
c.256G>T (p.Glu86Ter)
n.2000G>T
c.4186G>T (p.Glu1396Ter)
n.4567G>T
 dbSNP gnomAD v4
19g.11041314A>CCA404072714SMARCA4c.4274A>C (p.Glu1425Ala)
c.4178A>C (p.Glu1393Ala)
c.4079A>C (p.Glu1360Ala)
c.345A>C
c.305A>C (p.Glu102Ala)
c.119A>C (p.Glu40Ala)
n.2419A>C
c.2672A>C (p.Glu891Ala)
c.1635A>C
c.4175A>C (p.Glu1392Ala)
c.2735A>C (p.Glu912Ala)
c.4088A>C (p.Glu1363Ala)
c.2463A>C
c.4184A>C (p.Glu1395Ala)
c.2542A>C
n.671A>C
c.3601A>C
c.2815A>C
c.2850A>C
c.2832A>C
c.2666A>C (p.Glu889Ala)
c.727A>C
c.2089A>C (n.2089A>C)
c.2521A>C
c.2026A>C (n.2026A>C)
c.2478A>C
n.681A>C
c.2432A>C (p.Glu811Ala)
c.4280A>C (p.Glu1427Ala)
n.492A>C
n.2616A>C
n.2151A>C
c.257A>C (p.Glu86Ala)
n.2001A>C
c.4187A>C (p.Glu1396Ala)
n.4568A>C
19g.11041314A>GCA404072712SMARCA4c.4274A>G (p.Glu1425Gly)
c.4178A>G (p.Glu1393Gly)
c.4079A>G (p.Glu1360Gly)
c.345A>G
c.305A>G (p.Glu102Gly)
c.119A>G (p.Glu40Gly)
n.2419A>G
c.2672A>G (p.Glu891Gly)
c.1635A>G
c.4175A>G (p.Glu1392Gly)
c.2735A>G (p.Glu912Gly)
c.4088A>G (p.Glu1363Gly)
c.2463A>G
c.4184A>G (p.Glu1395Gly)
c.2542A>G
n.671A>G
c.3601A>G
c.2815A>G
c.2850A>G
c.2832A>G
c.2666A>G (p.Glu889Gly)
c.727A>G
c.2089A>G (n.2089A>G)
c.2521A>G
c.2026A>G (n.2026A>G)
c.2478A>G
n.681A>G
c.2432A>G (p.Glu811Gly)
c.4280A>G (p.Glu1427Gly)
n.492A>G
n.2616A>G
n.2151A>G
c.257A>G (p.Glu86Gly)
n.2001A>G
c.4187A>G (p.Glu1396Gly)
n.4568A>G
 dbSNP
19g.11041314A>TCA404072711SMARCA4c.4274A>T (p.Glu1425Val)
c.4178A>T (p.Glu1393Val)
c.4079A>T (p.Glu1360Val)
c.345A>T
c.305A>T (p.Glu102Val)
c.119A>T (p.Glu40Val)
n.2419A>T
c.2672A>T (p.Glu891Val)
c.1635A>T
c.4175A>T (p.Glu1392Val)
c.2735A>T (p.Glu912Val)
c.4088A>T (p.Glu1363Val)
c.2463A>T
c.4184A>T (p.Glu1395Val)
c.2542A>T
n.671A>T
c.3601A>T
c.2815A>T
c.2850A>T
c.2832A>T
c.2666A>T (p.Glu889Val)
c.727A>T
c.2089A>T (n.2089A>T)
c.2521A>T
c.2026A>T (n.2026A>T)
c.2478A>T
n.681A>T
c.2432A>T (p.Glu811Val)
c.4280A>T (p.Glu1427Val)
n.492A>T
n.2616A>T
n.2151A>T
c.257A>T (p.Glu86Val)
n.2001A>T
c.4187A>T (p.Glu1396Val)
n.4568A>T
 dbSNP
19g.11041315G>ACA9204672SMARCA4c.4275G>A (p.Glu1425=)
c.4179G>A (p.Glu1393=)
c.4080G>A (p.Glu1360=)
c.346G>A
c.306G>A (p.Glu102=)
c.120G>A (p.Glu40=)
n.2420G>A
c.2673G>A (p.Glu891=)
c.1636G>A
c.4176G>A (p.Glu1392=)
c.2736G>A (p.Glu912=)
c.4089G>A (p.Glu1363=)
c.2464G>A
c.4185G>A (p.Glu1395=)
c.2543G>A
n.672G>A
c.3602G>A
c.2816G>A
c.2851G>A
c.2833G>A
c.2667G>A (p.Glu889=)
c.728G>A
c.2090G>A (n.2090G>A)
c.2522G>A
c.2027G>A (n.2027G>A)
c.2479G>A
n.682G>A
c.2433G>A (p.Glu811=)
c.4281G>A (p.Glu1427=)
n.493G>A
n.2617G>A
n.2152G>A
c.258G>A (p.Glu86=)
n.2002G>A
c.4188G>A (p.Glu1396=)
n.4569G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041315G>CCA404072718SMARCA4c.4275G>C (p.Glu1425Asp)
c.4179G>C (p.Glu1393Asp)
c.4080G>C (p.Glu1360Asp)
c.346G>C
c.306G>C (p.Glu102Asp)
c.120G>C (p.Glu40Asp)
n.2420G>C
c.2673G>C (p.Glu891Asp)
c.1636G>C
c.4176G>C (p.Glu1392Asp)
c.2736G>C (p.Glu912Asp)
c.4089G>C (p.Glu1363Asp)
c.2464G>C
c.4185G>C (p.Glu1395Asp)
c.2543G>C
n.672G>C
c.3602G>C
c.2816G>C
c.2851G>C
c.2833G>C
c.2667G>C (p.Glu889Asp)
c.728G>C
c.2090G>C (n.2090G>C)
c.2522G>C
c.2027G>C (n.2027G>C)
c.2479G>C
n.682G>C
c.2433G>C (p.Glu811Asp)
c.4281G>C (p.Glu1427Asp)
n.493G>C
n.2617G>C
n.2152G>C
c.258G>C (p.Glu86Asp)
n.2002G>C
c.4188G>C (p.Glu1396Asp)
n.4569G>C
 dbSNP
19g.11041315G=CA2322735060SMARCA4c.4275G= (p.Glu1425=)
c.4179G= (p.Glu1393=)
c.4080G= (p.Glu1360=)
c.346G=
c.306G= (p.Glu102=)
c.120G= (p.Glu40=)
n.2420G=
c.2673G= (p.Glu891=)
c.1636G=
c.4176G= (p.Glu1392=)
c.2736G= (p.Glu912=)
c.4089G= (p.Glu1363=)
c.2464G=
c.4185G= (p.Glu1395=)
c.2543G=
n.672G=
c.3602G=
c.2816G=
c.2851G=
c.2833G=
c.2667G= (p.Glu889=)
c.728G=
c.2090G= (n.2090G=)
c.2522G=
c.2027G= (n.2027G=)
c.2479G=
n.682G=
c.2433G= (p.Glu811=)
c.4281G= (p.Glu1427=)
n.493G=
n.2617G=
n.2152G=
c.258G= (p.Glu86=)
n.2002G=
c.4188G= (p.Glu1396=)
n.4569G=
19g.11041315G>TCA404072720SMARCA4c.4275G>T (p.Glu1425Asp)
c.4179G>T (p.Glu1393Asp)
c.4080G>T (p.Glu1360Asp)
c.346G>T
c.306G>T (p.Glu102Asp)
c.120G>T (p.Glu40Asp)
n.2420G>T
c.2673G>T (p.Glu891Asp)
c.1636G>T
c.4176G>T (p.Glu1392Asp)
c.2736G>T (p.Glu912Asp)
c.4089G>T (p.Glu1363Asp)
c.2464G>T
c.4185G>T (p.Glu1395Asp)
c.2543G>T
n.672G>T
c.3602G>T
c.2816G>T
c.2851G>T
c.2833G>T
c.2667G>T (p.Glu889Asp)
c.728G>T
c.2090G>T (n.2090G>T)
c.2522G>T
c.2027G>T (n.2027G>T)
c.2479G>T
n.682G>T
c.2433G>T (p.Glu811Asp)
c.4281G>T (p.Glu1427Asp)
n.493G>T
n.2617G>T
n.2152G>T
c.258G>T (p.Glu86Asp)
n.2002G>T
c.4188G>T (p.Glu1396Asp)
n.4569G>T
 gnomAD v4
19g.11041316G>ACA404072723SMARCA4c.4276G>A (p.Glu1426Lys)
c.4180G>A (p.Glu1394Lys)
c.4081G>A (p.Glu1361Lys)
c.347G>A
c.307G>A (p.Glu103Lys)
c.121G>A (p.Glu41Lys)
n.2421G>A
c.2674G>A (p.Glu892Lys)
c.1637G>A
c.4177G>A (p.Glu1393Lys)
c.2737G>A (p.Glu913Lys)
c.4090G>A (p.Glu1364Lys)
c.2465G>A
c.4186G>A (p.Glu1396Lys)
c.2544G>A
n.673G>A
c.3603G>A
c.2817G>A
c.2852G>A
c.2834G>A
c.2668G>A (p.Glu890Lys)
c.729G>A
c.2091G>A (n.2091G>A)
c.2523G>A
c.2028G>A (n.2028G>A)
c.2480G>A
n.683G>A
c.2434G>A (p.Glu812Lys)
c.4282G>A (p.Glu1428Lys)
n.494G>A
n.2618G>A
n.2153G>A
c.259G>A (p.Glu87Lys)
n.2003G>A
c.4189G>A (p.Glu1397Lys)
n.4570G>A
 ClinVar dbSNP
19g.11041316G>CCA404072725SMARCA4c.4276G>C (p.Glu1426Gln)
c.4180G>C (p.Glu1394Gln)
c.4081G>C (p.Glu1361Gln)
c.347G>C
c.307G>C (p.Glu103Gln)
c.121G>C (p.Glu41Gln)
n.2421G>C
c.2674G>C (p.Glu892Gln)
c.1637G>C
c.4177G>C (p.Glu1393Gln)
c.2737G>C (p.Glu913Gln)
c.4090G>C (p.Glu1364Gln)
c.2465G>C
c.4186G>C (p.Glu1396Gln)
c.2544G>C
n.673G>C
c.3603G>C
c.2817G>C
c.2852G>C
c.2834G>C
c.2668G>C (p.Glu890Gln)
c.729G>C
c.2091G>C (n.2091G>C)
c.2523G>C
c.2028G>C (n.2028G>C)
c.2480G>C
n.683G>C
c.2434G>C (p.Glu812Gln)
c.4282G>C (p.Glu1428Gln)
n.494G>C
n.2618G>C
n.2153G>C
c.259G>C (p.Glu87Gln)
n.2003G>C
c.4189G>C (p.Glu1397Gln)
n.4570G>C
 dbSNP
19g.11041316G=CA2322735063SMARCA4c.4276G= (p.Glu1426=)
c.4180G= (p.Glu1394=)
c.4081G= (p.Glu1361=)
c.347G=
c.307G= (p.Glu103=)
c.121G= (p.Glu41=)
n.2421G=
c.2674G= (p.Glu892=)
c.1637G=
c.4177G= (p.Glu1393=)
c.2737G= (p.Glu913=)
c.4090G= (p.Glu1364=)
c.2465G=
c.4186G= (p.Glu1396=)
c.2544G=
n.673G=
c.3603G=
c.2817G=
c.2852G=
c.2834G=
c.2668G= (p.Glu890=)
c.729G=
c.2091G= (n.2091G=)
c.2523G=
c.2028G= (n.2028G=)
c.2480G=
n.683G=
c.2434G= (p.Glu812=)
c.4282G= (p.Glu1428=)
n.494G=
n.2618G=
n.2153G=
c.259G= (p.Glu87=)
n.2003G=
c.4189G= (p.Glu1397=)
n.4570G=
19g.11041316G>TCA404072727SMARCA4c.4276G>T (p.Glu1426Ter)
c.4180G>T (p.Glu1394Ter)
c.4081G>T (p.Glu1361Ter)
c.347G>T
c.307G>T (p.Glu103Ter)
c.121G>T (p.Glu41Ter)
n.2421G>T
c.2674G>T (p.Glu892Ter)
c.1637G>T
c.4177G>T (p.Glu1393Ter)
c.2737G>T (p.Glu913Ter)
c.4090G>T (p.Glu1364Ter)
c.2465G>T
c.4186G>T (p.Glu1396Ter)
c.2544G>T
n.673G>T
c.3603G>T
c.2817G>T
c.2852G>T
c.2834G>T
c.2668G>T (p.Glu890Ter)
c.729G>T
c.2091G>T (n.2091G>T)
c.2523G>T
c.2028G>T (n.2028G>T)
c.2480G>T
n.683G>T
c.2434G>T (p.Glu812Ter)
c.4282G>T (p.Glu1428Ter)
n.494G>T
n.2618G>T
n.2153G>T
c.259G>T (p.Glu87Ter)
n.2003G>T
c.4189G>T (p.Glu1397Ter)
n.4570G>T
19g.11041317A>CCA404072734SMARCA4c.4277A>C (p.Glu1426Ala)
c.4181A>C (p.Glu1394Ala)
c.4082A>C (p.Glu1361Ala)
c.348A>C
c.308A>C (p.Glu103Ala)
c.122A>C (p.Glu41Ala)
n.2422A>C
c.2675A>C (p.Glu892Ala)
c.1638A>C
c.4178A>C (p.Glu1393Ala)
c.2738A>C (p.Glu913Ala)
c.4091A>C (p.Glu1364Ala)
c.2466A>C
c.4187A>C (p.Glu1396Ala)
c.2545A>C
n.674A>C
c.3604A>C
c.2818A>C
c.2853A>C
c.2835A>C
c.2669A>C (p.Glu890Ala)
c.730A>C
c.2092A>C (n.2092A>C)
c.2524A>C
c.2029A>C (n.2029A>C)
c.2481A>C
n.684A>C
c.2435A>C (p.Glu812Ala)
c.4283A>C (p.Glu1428Ala)
n.495A>C
n.2619A>C
n.2154A>C
c.260A>C (p.Glu87Ala)
n.2004A>C
c.4190A>C (p.Glu1397Ala)
n.4571A>C
19g.11041317A>GCA404072730SMARCA4c.4277A>G (p.Glu1426Gly)
c.4181A>G (p.Glu1394Gly)
c.4082A>G (p.Glu1361Gly)
c.348A>G
c.308A>G (p.Glu103Gly)
c.122A>G (p.Glu41Gly)
n.2422A>G
c.2675A>G (p.Glu892Gly)
c.1638A>G
c.4178A>G (p.Glu1393Gly)
c.2738A>G (p.Glu913Gly)
c.4091A>G (p.Glu1364Gly)
c.2466A>G
c.4187A>G (p.Glu1396Gly)
c.2545A>G
n.674A>G
c.3604A>G
c.2818A>G
c.2853A>G
c.2835A>G
c.2669A>G (p.Glu890Gly)
c.730A>G
c.2092A>G (n.2092A>G)
c.2524A>G
c.2029A>G (n.2029A>G)
c.2481A>G
n.684A>G
c.2435A>G (p.Glu812Gly)
c.4283A>G (p.Glu1428Gly)
n.495A>G
n.2619A>G
n.2154A>G
c.260A>G (p.Glu87Gly)
n.2004A>G
c.4190A>G (p.Glu1397Gly)
n.4571A>G
 ClinVar dbSNP
19g.11041317A>TCA404072732SMARCA4c.4277A>T (p.Glu1426Val)
c.4181A>T (p.Glu1394Val)
c.4082A>T (p.Glu1361Val)
c.348A>T
c.308A>T (p.Glu103Val)
c.122A>T (p.Glu41Val)
n.2422A>T
c.2675A>T (p.Glu892Val)
c.1638A>T
c.4178A>T (p.Glu1393Val)
c.2738A>T (p.Glu913Val)
c.4091A>T (p.Glu1364Val)
c.2466A>T
c.4187A>T (p.Glu1396Val)
c.2545A>T
n.674A>T
c.3604A>T
c.2818A>T
c.2853A>T
c.2835A>T
c.2669A>T (p.Glu890Val)
c.730A>T
c.2092A>T (n.2092A>T)
c.2524A>T
c.2029A>T (n.2029A>T)
c.2481A>T
n.684A>T
c.2435A>T (p.Glu812Val)
c.4283A>T (p.Glu1428Val)
n.495A>T
n.2619A>T
n.2154A>T
c.260A>T (p.Glu87Val)
n.2004A>T
c.4190A>T (p.Glu1397Val)
n.4571A>T
19g.11041318G>ACA9204673SMARCA4c.4278G>A (p.Glu1426=)
c.4182G>A (p.Glu1394=)
c.4083G>A (p.Glu1361=)
c.349G>A
c.309G>A (p.Glu103=)
c.123G>A (p.Glu41=)
n.2423G>A
c.2676G>A (p.Glu892=)
c.1639G>A
c.4179G>A (p.Glu1393=)
c.2739G>A (p.Glu913=)
c.4092G>A (p.Glu1364=)
c.2467G>A
c.4188G>A (p.Glu1396=)
c.2546G>A
n.675G>A
c.3605G>A
c.2819G>A
c.2854G>A
c.2836G>A
c.2670G>A (p.Glu890=)
c.731G>A
c.2093G>A (n.2093G>A)
c.2525G>A
c.2030G>A (n.2030G>A)
c.2482G>A
n.685G>A
c.2436G>A (p.Glu812=)
c.4284G>A (p.Glu1428=)
n.496G>A
n.2620G>A
n.2155G>A
c.261G>A (p.Glu87=)
n.2005G>A
c.4191G>A (p.Glu1397=)
n.4572G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041318G>CCA404072738SMARCA4c.4278G>C (p.Glu1426Asp)
c.4182G>C (p.Glu1394Asp)
c.4083G>C (p.Glu1361Asp)
c.349G>C
c.309G>C (p.Glu103Asp)
c.123G>C (p.Glu41Asp)
n.2423G>C
c.2676G>C (p.Glu892Asp)
c.1639G>C
c.4179G>C (p.Glu1393Asp)
c.2739G>C (p.Glu913Asp)
c.4092G>C (p.Glu1364Asp)
c.2467G>C
c.4188G>C (p.Glu1396Asp)
c.2546G>C
n.675G>C
c.3605G>C
c.2819G>C
c.2854G>C
c.2836G>C
c.2670G>C (p.Glu890Asp)
c.731G>C
c.2093G>C (n.2093G>C)
c.2525G>C
c.2030G>C (n.2030G>C)
c.2482G>C
n.685G>C
c.2436G>C (p.Glu812Asp)
c.4284G>C (p.Glu1428Asp)
n.496G>C
n.2620G>C
n.2155G>C
c.261G>C (p.Glu87Asp)
n.2005G>C
c.4191G>C (p.Glu1397Asp)
n.4572G>C
 ClinVar dbSNP
19g.11041318G=CA2322735064SMARCA4c.4278G= (p.Glu1426=)
c.4182G= (p.Glu1394=)
c.4083G= (p.Glu1361=)
c.349G=
c.309G= (p.Glu103=)
c.123G= (p.Glu41=)
n.2423G=
c.2676G= (p.Glu892=)
c.1639G=
c.4179G= (p.Glu1393=)
c.2739G= (p.Glu913=)
c.4092G= (p.Glu1364=)
c.2467G=
c.4188G= (p.Glu1396=)
c.2546G=
n.675G=
c.3605G=
c.2819G=
c.2854G=
c.2836G=
c.2670G= (p.Glu890=)
c.731G=
c.2093G= (n.2093G=)
c.2525G=
c.2030G= (n.2030G=)
c.2482G=
n.685G=
c.2436G= (p.Glu812=)
c.4284G= (p.Glu1428=)
n.496G=
n.2620G=
n.2155G=
c.261G= (p.Glu87=)
n.2005G=
c.4191G= (p.Glu1397=)
n.4572G=
19g.11041318G>TCA404072740SMARCA4c.4278G>T (p.Glu1426Asp)
c.4182G>T (p.Glu1394Asp)
c.4083G>T (p.Glu1361Asp)
c.349G>T
c.309G>T (p.Glu103Asp)
c.123G>T (p.Glu41Asp)
n.2423G>T
c.2676G>T (p.Glu892Asp)
c.1639G>T
c.4179G>T (p.Glu1393Asp)
c.2739G>T (p.Glu913Asp)
c.4092G>T (p.Glu1364Asp)
c.2467G>T
c.4188G>T (p.Glu1396Asp)
c.2546G>T
n.675G>T
c.3605G>T
c.2819G>T
c.2854G>T
c.2836G>T
c.2670G>T (p.Glu890Asp)
c.731G>T
c.2093G>T (n.2093G>T)
c.2525G>T
c.2030G>T (n.2030G>T)
c.2482G>T
n.685G>T
c.2436G>T (p.Glu812Asp)
c.4284G>T (p.Glu1428Asp)
n.496G>T
n.2620G>T
n.2155G>T
c.261G>T (p.Glu87Asp)
n.2005G>T
c.4191G>T (p.Glu1397Asp)
n.4572G>T
 dbSNP
19g.11041319G>ACA404072743SMARCA4c.4279G>A (p.Gly1427Ser)
c.4183G>A (p.Gly1395Ser)
c.4084G>A (p.Gly1362Ser)
c.350G>A
c.310G>A (p.Gly104Ser)
c.124G>A (p.Gly42Ser)
n.2424G>A
c.2677G>A (p.Gly893Ser)
c.1640G>A
c.4180G>A (p.Gly1394Ser)
c.2740G>A (p.Gly914Ser)
c.4093G>A (p.Gly1365Ser)
c.2468G>A
c.4189G>A (p.Gly1397Ser)
c.2547G>A
n.676G>A
c.3606G>A
c.2820G>A
c.2855G>A
c.2837G>A
c.2671G>A (p.Gly891Ser)
c.732G>A
c.2094G>A (n.2094G>A)
c.2526G>A
c.2031G>A (n.2031G>A)
c.2483G>A
n.686G>A
c.2437G>A (p.Gly813Ser)
c.4285G>A (p.Gly1429Ser)
n.497G>A
n.2621G>A
n.2156G>A
c.262G>A (p.Gly88Ser)
n.2006G>A
c.4192G>A (p.Gly1398Ser)
n.4573G>A
 dbSNP
19g.11041319G>CCA404072746SMARCA4c.4279G>C (p.Gly1427Arg)
c.4183G>C (p.Gly1395Arg)
c.4084G>C (p.Gly1362Arg)
c.350G>C
c.310G>C (p.Gly104Arg)
c.124G>C (p.Gly42Arg)
n.2424G>C
c.2677G>C (p.Gly893Arg)
c.1640G>C
c.4180G>C (p.Gly1394Arg)
c.2740G>C (p.Gly914Arg)
c.4093G>C (p.Gly1365Arg)
c.2468G>C
c.4189G>C (p.Gly1397Arg)
c.2547G>C
n.676G>C
c.3606G>C
c.2820G>C
c.2855G>C
c.2837G>C
c.2671G>C (p.Gly891Arg)
c.732G>C
c.2094G>C (n.2094G>C)
c.2526G>C
c.2031G>C (n.2031G>C)
c.2483G>C
n.686G>C
c.2437G>C (p.Gly813Arg)
c.4285G>C (p.Gly1429Arg)
n.497G>C
n.2621G>C
n.2156G>C
c.262G>C (p.Gly88Arg)
n.2006G>C
c.4192G>C (p.Gly1398Arg)
n.4573G>C
 dbSNP
19g.11041319G>TCA404072748SMARCA4c.4279G>T (p.Gly1427Cys)
c.4183G>T (p.Gly1395Cys)
c.4084G>T (p.Gly1362Cys)
c.350G>T
c.310G>T (p.Gly104Cys)
c.124G>T (p.Gly42Cys)
n.2424G>T
c.2677G>T (p.Gly893Cys)
c.1640G>T
c.4180G>T (p.Gly1394Cys)
c.2740G>T (p.Gly914Cys)
c.4093G>T (p.Gly1365Cys)
c.2468G>T
c.4189G>T (p.Gly1397Cys)
c.2547G>T
n.676G>T
c.3606G>T
c.2820G>T
c.2855G>T
c.2837G>T
c.2671G>T (p.Gly891Cys)
c.732G>T
c.2094G>T (n.2094G>T)
c.2526G>T
c.2031G>T (n.2031G>T)
c.2483G>T
n.686G>T
c.2437G>T (p.Gly813Cys)
c.4285G>T (p.Gly1429Cys)
n.497G>T
n.2621G>T
n.2156G>T
c.262G>T (p.Gly88Cys)
n.2006G>T
c.4192G>T (p.Gly1398Cys)
n.4573G>T
 gnomAD v4
19g.11041320G>ACA404072751SMARCA4c.4280G>A (p.Gly1427Asp)
c.4184G>A (p.Gly1395Asp)
c.4085G>A (p.Gly1362Asp)
c.351G>A
c.311G>A (p.Gly104Asp)
c.125G>A (p.Gly42Asp)
n.2425G>A
c.2678G>A (p.Gly893Asp)
c.1641G>A
c.4181G>A (p.Gly1394Asp)
c.2741G>A (p.Gly914Asp)
c.4094G>A (p.Gly1365Asp)
c.2469G>A
c.4190G>A (p.Gly1397Asp)
c.2548G>A
n.677G>A
c.3607G>A
c.2821G>A
c.2856G>A
c.2838G>A
c.2672G>A (p.Gly891Asp)
c.733G>A
c.2095G>A (n.2095G>A)
c.2527G>A
c.2032G>A (n.2032G>A)
c.2484G>A
n.687G>A
c.2438G>A (p.Gly813Asp)
c.4286G>A (p.Gly1429Asp)
n.498G>A
n.2622G>A
n.2157G>A
c.263G>A (p.Gly88Asp)
n.2007G>A
c.4193G>A (p.Gly1398Asp)
n.4574G>A
 dbSNP gnomAD v4
19g.11041320G>CCA404072753SMARCA4c.4280G>C (p.Gly1427Ala)
c.4184G>C (p.Gly1395Ala)
c.4085G>C (p.Gly1362Ala)
c.351G>C
c.311G>C (p.Gly104Ala)
c.125G>C (p.Gly42Ala)
n.2425G>C
c.2678G>C (p.Gly893Ala)
c.1641G>C
c.4181G>C (p.Gly1394Ala)
c.2741G>C (p.Gly914Ala)
c.4094G>C (p.Gly1365Ala)
c.2469G>C
c.4190G>C (p.Gly1397Ala)
c.2548G>C
n.677G>C
c.3607G>C
c.2821G>C
c.2856G>C
c.2838G>C
c.2672G>C (p.Gly891Ala)
c.733G>C
c.2095G>C (n.2095G>C)
c.2527G>C
c.2032G>C (n.2032G>C)
c.2484G>C
n.687G>C
c.2438G>C (p.Gly813Ala)
c.4286G>C (p.Gly1429Ala)
n.498G>C
n.2622G>C
n.2157G>C
c.263G>C (p.Gly88Ala)
n.2007G>C
c.4193G>C (p.Gly1398Ala)
n.4574G>C
 dbSNP
19g.11041320G>TCA404072756SMARCA4c.4280G>T (p.Gly1427Val)
c.4184G>T (p.Gly1395Val)
c.4085G>T (p.Gly1362Val)
c.351G>T
c.311G>T (p.Gly104Val)
c.125G>T (p.Gly42Val)
n.2425G>T
c.2678G>T (p.Gly893Val)
c.1641G>T
c.4181G>T (p.Gly1394Val)
c.2741G>T (p.Gly914Val)
c.4094G>T (p.Gly1365Val)
c.2469G>T
c.4190G>T (p.Gly1397Val)
c.2548G>T
n.677G>T
c.3607G>T
c.2821G>T
c.2856G>T
c.2838G>T
c.2672G>T (p.Gly891Val)
c.733G>T
c.2095G>T (n.2095G>T)
c.2527G>T
c.2032G>T (n.2032G>T)
c.2484G>T
n.687G>T
c.2438G>T (p.Gly813Val)
c.4286G>T (p.Gly1429Val)
n.498G>T
n.2622G>T
n.2157G>T
c.263G>T (p.Gly88Val)
n.2007G>T
c.4193G>T (p.Gly1398Val)
n.4574G>T
 dbSNP
19g.11041321C>ACA505743795SMARCA4c.4281C>A (p.Gly1427=)
c.4185C>A (p.Gly1395=)
c.4086C>A (p.Gly1362=)
c.352C>A
c.312C>A (p.Gly104=)
c.126C>A (p.Gly42=)
n.2426C>A
c.2679C>A (p.Gly893=)
c.1642C>A
c.4182C>A (p.Gly1394=)
c.2742C>A (p.Gly914=)
c.4095C>A (p.Gly1365=)
c.2470C>A
c.4191C>A (p.Gly1397=)
c.2549C>A
n.678C>A
c.3608C>A
c.2822C>A
c.2857C>A
c.2839C>A
c.2673C>A (p.Gly891=)
c.734C>A
c.2096C>A (n.2096C>A)
c.2528C>A
c.2033C>A (n.2033C>A)
c.2485C>A
n.688C>A
c.2439C>A (p.Gly813=)
c.4287C>A (p.Gly1429=)
n.499C>A
n.2623C>A
n.2158C>A
c.264C>A (p.Gly88=)
n.2008C>A
c.4194C>A (p.Gly1398=)
n.4575C>A
 dbSNP gnomAD v4
19g.11041321C=CA2322735067SMARCA4c.4281C= (p.Gly1427=)
c.4185C= (p.Gly1395=)
c.4086C= (p.Gly1362=)
c.352C=
c.312C= (p.Gly104=)
c.126C= (p.Gly42=)
n.2426C=
c.2679C= (p.Gly893=)
c.1642C=
c.4182C= (p.Gly1394=)
c.2742C= (p.Gly914=)
c.4095C= (p.Gly1365=)
c.2470C=
c.4191C= (p.Gly1397=)
c.2549C=
n.678C=
c.3608C=
c.2822C=
c.2857C=
c.2839C=
c.2673C= (p.Gly891=)
c.734C=
c.2096C= (n.2096C=)
c.2528C=
c.2033C= (n.2033C=)
c.2485C=
n.688C=
c.2439C= (p.Gly813=)
c.4287C= (p.Gly1429=)
n.499C=
n.2623C=
n.2158C=
c.264C= (p.Gly88=)
n.2008C=
c.4194C= (p.Gly1398=)
n.4575C=
19g.11041321C>GCA505743796SMARCA4c.4281C>G (p.Gly1427=)
c.4185C>G (p.Gly1395=)
c.4086C>G (p.Gly1362=)
c.352C>G
c.312C>G (p.Gly104=)
c.126C>G (p.Gly42=)
n.2426C>G
c.2679C>G (p.Gly893=)
c.1642C>G
c.4182C>G (p.Gly1394=)
c.2742C>G (p.Gly914=)
c.4095C>G (p.Gly1365=)
c.2470C>G
c.4191C>G (p.Gly1397=)
c.2549C>G
n.678C>G
c.3608C>G
c.2822C>G
c.2857C>G
c.2839C>G
c.2673C>G (p.Gly891=)
c.734C>G
c.2096C>G (n.2096C>G)
c.2528C>G
c.2033C>G (n.2033C>G)
c.2485C>G
n.688C>G
c.2439C>G (p.Gly813=)
c.4287C>G (p.Gly1429=)
n.499C>G
n.2623C>G
n.2158C>G
c.264C>G (p.Gly88=)
n.2008C>G
c.4194C>G (p.Gly1398=)
n.4575C>G
 dbSNP
19g.11041321C>TCA16616180SMARCA4c.4281C>T (p.Gly1427=)
c.4185C>T (p.Gly1395=)
c.4086C>T (p.Gly1362=)
c.352C>T
c.312C>T (p.Gly104=)
c.126C>T (p.Gly42=)
n.2426C>T
c.2679C>T (p.Gly893=)
c.1642C>T
c.4182C>T (p.Gly1394=)
c.2742C>T (p.Gly914=)
c.4095C>T (p.Gly1365=)
c.2470C>T
c.4191C>T (p.Gly1397=)
c.2549C>T
n.678C>T
c.3608C>T
c.2822C>T
c.2857C>T
c.2839C>T
c.2673C>T (p.Gly891=)
c.734C>T
c.2096C>T (n.2096C>T)
c.2528C>T
c.2033C>T (n.2033C>T)
c.2485C>T
n.688C>T
c.2439C>T (p.Gly813=)
c.4287C>T (p.Gly1429=)
n.499C>T
n.2623C>T
n.2158C>T
c.264C>T (p.Gly88=)
n.2008C>T
c.4194C>T (p.Gly1398=)
n.4575C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041322A>CCA404072758SMARCA4c.4282A>C (p.Thr1428Pro)
c.4186A>C (p.Thr1396Pro)
c.4087A>C (p.Thr1363Pro)
c.353A>C
c.313A>C (p.Thr105Pro)
c.127A>C (p.Thr43Pro)
n.2427A>C
c.2680A>C (p.Thr894Pro)
c.1643A>C
c.4183A>C (p.Thr1395Pro)
c.2743A>C (p.Thr915Pro)
c.4096A>C (p.Thr1366Pro)
c.2471A>C
c.4192A>C (p.Thr1398Pro)
c.2550A>C
n.679A>C
c.3609A>C
c.2823A>C
c.2858A>C
c.2840A>C
c.2674A>C (p.Thr892Pro)
c.735A>C
c.2097A>C (n.2097A>C)
c.2529A>C
c.2034A>C (n.2034A>C)
c.2486A>C
n.689A>C
c.2440A>C (p.Thr814Pro)
c.4288A>C (p.Thr1430Pro)
n.500A>C
n.2624A>C
n.2159A>C
c.265A>C (p.Thr89Pro)
n.2009A>C
c.4195A>C (p.Thr1399Pro)
n.4576A>C
 dbSNP gnomAD v4
19g.11041322A>GCA404072761SMARCA4c.4282A>G (p.Thr1428Ala)
c.4186A>G (p.Thr1396Ala)
c.4087A>G (p.Thr1363Ala)
c.353A>G
c.313A>G (p.Thr105Ala)
c.127A>G (p.Thr43Ala)
n.2427A>G
c.2680A>G (p.Thr894Ala)
c.1643A>G
c.4183A>G (p.Thr1395Ala)
c.2743A>G (p.Thr915Ala)
c.4096A>G (p.Thr1366Ala)
c.2471A>G
c.4192A>G (p.Thr1398Ala)
c.2550A>G
n.679A>G
c.3609A>G
c.2823A>G
c.2858A>G
c.2840A>G
c.2674A>G (p.Thr892Ala)
c.735A>G
c.2097A>G (n.2097A>G)
c.2529A>G
c.2034A>G (n.2034A>G)
c.2486A>G
n.689A>G
c.2440A>G (p.Thr814Ala)
c.4288A>G (p.Thr1430Ala)
n.500A>G
n.2624A>G
n.2159A>G
c.265A>G (p.Thr89Ala)
n.2009A>G
c.4195A>G (p.Thr1399Ala)
n.4576A>G
 dbSNP
19g.11041322A>TCA404072763SMARCA4c.4282A>T (p.Thr1428Ser)
c.4186A>T (p.Thr1396Ser)
c.4087A>T (p.Thr1363Ser)
c.353A>T
c.313A>T (p.Thr105Ser)
c.127A>T (p.Thr43Ser)
n.2427A>T
c.2680A>T (p.Thr894Ser)
c.1643A>T
c.4183A>T (p.Thr1395Ser)
c.2743A>T (p.Thr915Ser)
c.4096A>T (p.Thr1366Ser)
c.2471A>T
c.4192A>T (p.Thr1398Ser)
c.2550A>T
n.679A>T
c.3609A>T
c.2823A>T
c.2858A>T
c.2840A>T
c.2674A>T (p.Thr892Ser)
c.735A>T
c.2097A>T (n.2097A>T)
c.2529A>T
c.2034A>T (n.2034A>T)
c.2486A>T
n.689A>T
c.2440A>T (p.Thr814Ser)
c.4288A>T (p.Thr1430Ser)
n.500A>T
n.2624A>T
n.2159A>T
c.265A>T (p.Thr89Ser)
n.2009A>T
c.4195A>T (p.Thr1399Ser)
n.4576A>T
 dbSNP
19g.11041323C>ACA404072767SMARCA4c.4283C>A (p.Thr1428Lys)
c.4187C>A (p.Thr1396Lys)
c.4088C>A (p.Thr1363Lys)
c.354C>A
c.314C>A (p.Thr105Lys)
c.128C>A (p.Thr43Lys)
n.2428C>A
c.2681C>A (p.Thr894Lys)
c.1644C>A
c.4184C>A (p.Thr1395Lys)
c.2744C>A (p.Thr915Lys)
c.4097C>A (p.Thr1366Lys)
c.2472C>A
c.4193C>A (p.Thr1398Lys)
c.2551C>A
n.680C>A
c.3610C>A
c.2824C>A
c.2859C>A
c.2841C>A
c.2675C>A (p.Thr892Lys)
c.736C>A
c.2098C>A (n.2098C>A)
c.2530C>A
c.2035C>A (n.2035C>A)
c.2487C>A
n.690C>A
c.2441C>A (p.Thr814Lys)
c.4289C>A (p.Thr1430Lys)
n.501C>A
n.2625C>A
n.2160C>A
c.266C>A (p.Thr89Lys)
n.2010C>A
c.4196C>A (p.Thr1399Lys)
n.4577C>A
19g.11041323C=CA2322735070SMARCA4c.4283C= (p.Thr1428=)
c.4187C= (p.Thr1396=)
c.4088C= (p.Thr1363=)
c.354C=
c.314C= (p.Thr105=)
c.128C= (p.Thr43=)
n.2428C=
c.2681C= (p.Thr894=)
c.1644C=
c.4184C= (p.Thr1395=)
c.2744C= (p.Thr915=)
c.4097C= (p.Thr1366=)
c.2472C=
c.4193C= (p.Thr1398=)
c.2551C=
n.680C=
c.3610C=
c.2824C=
c.2859C=
c.2841C=
c.2675C= (p.Thr892=)
c.736C=
c.2098C= (n.2098C=)
c.2530C=
c.2035C= (n.2035C=)
c.2487C=
n.690C=
c.2441C= (p.Thr814=)
c.4289C= (p.Thr1430=)
n.501C=
n.2625C=
n.2160C=
c.266C= (p.Thr89=)
n.2010C=
c.4196C= (p.Thr1399=)
n.4577C=
19g.11041323C>GCA404072771SMARCA4c.4283C>G (p.Thr1428Arg)
c.4187C>G (p.Thr1396Arg)
c.4088C>G (p.Thr1363Arg)
c.354C>G
c.314C>G (p.Thr105Arg)
c.128C>G (p.Thr43Arg)
n.2428C>G
c.2681C>G (p.Thr894Arg)
c.1644C>G
c.4184C>G (p.Thr1395Arg)
c.2744C>G (p.Thr915Arg)
c.4097C>G (p.Thr1366Arg)
c.2472C>G
c.4193C>G (p.Thr1398Arg)
c.2551C>G
n.680C>G
c.3610C>G
c.2824C>G
c.2859C>G
c.2841C>G
c.2675C>G (p.Thr892Arg)
c.736C>G
c.2098C>G (n.2098C>G)
c.2530C>G
c.2035C>G (n.2035C>G)
c.2487C>G
n.690C>G
c.2441C>G (p.Thr814Arg)
c.4289C>G (p.Thr1430Arg)
n.501C>G
n.2625C>G
n.2160C>G
c.266C>G (p.Thr89Arg)
n.2010C>G
c.4196C>G (p.Thr1399Arg)
n.4577C>G
 dbSNP
19g.11041323C>TCA404072770SMARCA4c.4283C>T (p.Thr1428Met)
c.4187C>T (p.Thr1396Met)
c.4088C>T (p.Thr1363Met)
c.354C>T
c.314C>T (p.Thr105Met)
c.128C>T (p.Thr43Met)
n.2428C>T
c.2681C>T (p.Thr894Met)
c.1644C>T
c.4184C>T (p.Thr1395Met)
c.2744C>T (p.Thr915Met)
c.4097C>T (p.Thr1366Met)
c.2472C>T
c.4193C>T (p.Thr1398Met)
c.2551C>T
n.680C>T
c.3610C>T
c.2824C>T
c.2859C>T
c.2841C>T
c.2675C>T (p.Thr892Met)
c.736C>T
c.2098C>T (n.2098C>T)
c.2530C>T
c.2035C>T (n.2035C>T)
c.2487C>T
n.690C>T
c.2441C>T (p.Thr814Met)
c.4289C>T (p.Thr1430Met)
n.501C>T
n.2625C>T
n.2160C>T
c.266C>T (p.Thr89Met)
n.2010C>T
c.4196C>T (p.Thr1399Met)
n.4577C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11041324G>ACA305294291SMARCA4c.4284G>A (p.Thr1428=)
c.4188G>A (p.Thr1396=)
c.4089G>A (p.Thr1363=)
c.355G>A
c.315G>A (p.Thr105=)
c.129G>A (p.Thr43=)
n.2429G>A
c.2682G>A (p.Thr894=)
c.1645G>A
c.4185G>A (p.Thr1395=)
c.2745G>A (p.Thr915=)
c.4098G>A (p.Thr1366=)
c.2473G>A
c.4194G>A (p.Thr1398=)
c.2552G>A
n.681G>A
c.3611G>A
c.2825G>A
c.2860G>A
c.2842G>A
c.2676G>A (p.Thr892=)
c.737G>A
c.2099G>A (n.2099G>A)
c.2531G>A
c.2036G>A (n.2036G>A)
c.2488G>A
n.691G>A
c.2442G>A (p.Thr814=)
c.4290G>A (p.Thr1430=)
n.502G>A
n.2626G>A
n.2161G>A
c.267G>A (p.Thr89=)
n.2011G>A
c.4197G>A (p.Thr1399=)
n.4578G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.11041324G>CCA505743801SMARCA4c.4284G>C (p.Thr1428=)
c.4188G>C (p.Thr1396=)
c.4089G>C (p.Thr1363=)
c.355G>C
c.315G>C (p.Thr105=)
c.129G>C (p.Thr43=)
n.2429G>C
c.2682G>C (p.Thr894=)
c.1645G>C
c.4185G>C (p.Thr1395=)
c.2745G>C (p.Thr915=)
c.4098G>C (p.Thr1366=)
c.2473G>C
c.4194G>C (p.Thr1398=)
c.2552G>C
n.681G>C
c.3611G>C
c.2825G>C
c.2860G>C
c.2842G>C
c.2676G>C (p.Thr892=)
c.737G>C
c.2099G>C (n.2099G>C)
c.2531G>C
c.2036G>C (n.2036G>C)
c.2488G>C
n.691G>C
c.2442G>C (p.Thr814=)
c.4290G>C (p.Thr1430=)
n.502G>C
n.2626G>C
n.2161G>C
c.267G>C (p.Thr89=)
n.2011G>C
c.4197G>C (p.Thr1399=)
n.4578G>C
 dbSNP
19g.11041324G=CA2322735073SMARCA4c.4284G= (p.Thr1428=)
c.4188G= (p.Thr1396=)
c.4089G= (p.Thr1363=)
c.355G=
c.315G= (p.Thr105=)
c.129G= (p.Thr43=)
n.2429G=
c.2682G= (p.Thr894=)
c.1645G=
c.4185G= (p.Thr1395=)
c.2745G= (p.Thr915=)
c.4098G= (p.Thr1366=)
c.2473G=
c.4194G= (p.Thr1398=)
c.2552G=
n.681G=
c.3611G=
c.2825G=
c.2860G=
c.2842G=
c.2676G= (p.Thr892=)
c.737G=
c.2099G= (n.2099G=)
c.2531G=
c.2036G= (n.2036G=)
c.2488G=
n.691G=
c.2442G= (p.Thr814=)
c.4290G= (p.Thr1430=)
n.502G=
n.2626G=
n.2161G=
c.267G= (p.Thr89=)
n.2011G=
c.4197G= (p.Thr1399=)
n.4578G=
19g.11041324G>TCA348017SMARCA4c.4284G>T (p.Thr1428=)
c.4188G>T (p.Thr1396=)
c.4089G>T (p.Thr1363=)
c.355G>T
c.315G>T (p.Thr105=)
c.129G>T (p.Thr43=)
n.2429G>T
c.2682G>T (p.Thr894=)
c.1645G>T
c.4185G>T (p.Thr1395=)
c.2745G>T (p.Thr915=)
c.4098G>T (p.Thr1366=)
c.2473G>T
c.4194G>T (p.Thr1398=)
c.2552G>T
n.681G>T
c.3611G>T
c.2825G>T
c.2860G>T
c.2842G>T
c.2676G>T (p.Thr892=)
c.737G>T
c.2099G>T (n.2099G>T)
c.2531G>T
c.2036G>T (n.2036G>T)
c.2488G>T
n.691G>T
c.2442G>T (p.Thr814=)
c.4290G>T (p.Thr1430=)
n.502G>T
n.2626G>T
n.2161G>T
c.267G>T (p.Thr89=)
n.2011G>T
c.4197G>T (p.Thr1399=)
n.4578G>T
 ClinVar dbSNP gnomAD v4
19g.11041325C>ACA404072776SMARCA4c.4285C>A (p.Leu1429Met)
c.4189C>A (p.Leu1397Met)
c.4090C>A (p.Leu1364Met)
c.356C>A
c.316C>A (p.Leu106Met)
c.130C>A (p.Leu44Met)
n.2430C>A
c.2683C>A (p.Leu895Met)
c.1646C>A
c.4186C>A (p.Leu1396Met)
c.2746C>A (p.Leu916Met)
c.4099C>A (p.Leu1367Met)
c.2474C>A
c.4195C>A (p.Leu1399Met)
c.2553C>A
n.682C>A
c.3612C>A
c.2826C>A
c.2861C>A
c.2843C>A
c.2677C>A (p.Leu893Met)
c.738C>A
c.2100C>A (n.2100C>A)
c.2532C>A
c.2037C>A (n.2037C>A)
c.2489C>A
n.692C>A
c.2443C>A (p.Leu815Met)
c.4291C>A (p.Leu1431Met)
n.503C>A
n.2627C>A
n.2162C>A
c.268C>A (p.Leu90Met)
n.2012C>A
c.4198C>A (p.Leu1400Met)
n.4579C>A
 ClinVar dbSNP
19g.11041325C>GCA404072778SMARCA4c.4285C>G (p.Leu1429Val)
c.4189C>G (p.Leu1397Val)
c.4090C>G (p.Leu1364Val)
c.356C>G
c.316C>G (p.Leu106Val)
c.130C>G (p.Leu44Val)
n.2430C>G
c.2683C>G (p.Leu895Val)
c.1646C>G
c.4186C>G (p.Leu1396Val)
c.2746C>G (p.Leu916Val)
c.4099C>G (p.Leu1367Val)
c.2474C>G
c.4195C>G (p.Leu1399Val)
c.2553C>G
n.682C>G
c.3612C>G
c.2826C>G
c.2861C>G
c.2843C>G
c.2677C>G (p.Leu893Val)
c.738C>G
c.2100C>G (n.2100C>G)
c.2532C>G
c.2037C>G (n.2037C>G)
c.2489C>G
n.692C>G
c.2443C>G (p.Leu815Val)
c.4291C>G (p.Leu1431Val)
n.503C>G
n.2627C>G
n.2162C>G
c.268C>G (p.Leu90Val)
n.2012C>G
c.4198C>G (p.Leu1400Val)
n.4579C>G
 dbSNP
19g.11041325C>TCA505743805SMARCA4c.4285C>T (p.Leu1429=)
c.4189C>T (p.Leu1397=)
c.4090C>T (p.Leu1364=)
c.356C>T
c.316C>T (p.Leu106=)
c.130C>T (p.Leu44=)
n.2430C>T
c.2683C>T (p.Leu895=)
c.1646C>T
c.4186C>T (p.Leu1396=)
c.2746C>T (p.Leu916=)
c.4099C>T (p.Leu1367=)
c.2474C>T
c.4195C>T (p.Leu1399=)
c.2553C>T
n.682C>T
c.3612C>T
c.2826C>T
c.2861C>T
c.2843C>T
c.2677C>T (p.Leu893=)
c.738C>T
c.2100C>T (n.2100C>T)
c.2532C>T
c.2037C>T (n.2037C>T)
c.2489C>T
n.692C>T
c.2443C>T (p.Leu815=)
c.4291C>T (p.Leu1431=)
n.503C>T
n.2627C>T
n.2162C>T
c.268C>T (p.Leu90=)
n.2012C>T
c.4198C>T (p.Leu1400=)
n.4579C>T
 dbSNP
19g.11041326T>ACA404072779SMARCA4c.4286T>A (p.Leu1429Gln)
c.4190T>A (p.Leu1397Gln)
c.4091T>A (p.Leu1364Gln)
c.357T>A
c.317T>A (p.Leu106Gln)
c.131T>A (p.Leu44Gln)
n.2431T>A
c.2684T>A (p.Leu895Gln)
c.1647T>A
c.4187T>A (p.Leu1396Gln)
c.2747T>A (p.Leu916Gln)
c.4100T>A (p.Leu1367Gln)
c.2475T>A
c.4196T>A (p.Leu1399Gln)
c.2554T>A
n.683T>A
c.3613T>A
c.2827T>A
c.2862T>A
c.2844T>A
c.2678T>A (p.Leu893Gln)
c.739T>A
c.2101T>A (n.2101T>A)
c.2533T>A
c.2038T>A (n.2038T>A)
c.2490T>A
n.693T>A
c.2444T>A (p.Leu815Gln)
c.4292T>A (p.Leu1431Gln)
n.504T>A
n.2628T>A
n.2163T>A
c.269T>A (p.Leu90Gln)
n.2013T>A
c.4199T>A (p.Leu1400Gln)
n.4580T>A
 ClinVar gnomAD v4
19g.11041326T>CCA404072780SMARCA4c.4286T>C (p.Leu1429Pro)
c.4190T>C (p.Leu1397Pro)
c.4091T>C (p.Leu1364Pro)
c.357T>C
c.317T>C (p.Leu106Pro)
c.131T>C (p.Leu44Pro)
n.2431T>C
c.2684T>C (p.Leu895Pro)
c.1647T>C
c.4187T>C (p.Leu1396Pro)
c.2747T>C (p.Leu916Pro)
c.4100T>C (p.Leu1367Pro)
c.2475T>C
c.4196T>C (p.Leu1399Pro)
c.2554T>C
n.683T>C
c.3613T>C
c.2827T>C
c.2862T>C
c.2844T>C
c.2678T>C (p.Leu893Pro)
c.739T>C
c.2101T>C (n.2101T>C)
c.2533T>C
c.2038T>C (n.2038T>C)
c.2490T>C
n.693T>C
c.2444T>C (p.Leu815Pro)
c.4292T>C (p.Leu1431Pro)
n.504T>C
n.2628T>C
n.2163T>C
c.269T>C (p.Leu90Pro)
n.2013T>C
c.4199T>C (p.Leu1400Pro)
n.4580T>C
19g.11041326T>GCA404072781SMARCA4c.4286T>G (p.Leu1429Arg)
c.4190T>G (p.Leu1397Arg)
c.4091T>G (p.Leu1364Arg)
c.357T>G
c.317T>G (p.Leu106Arg)
c.131T>G (p.Leu44Arg)
n.2431T>G
c.2684T>G (p.Leu895Arg)
c.1647T>G
c.4187T>G (p.Leu1396Arg)
c.2747T>G (p.Leu916Arg)
c.4100T>G (p.Leu1367Arg)
c.2475T>G
c.4196T>G (p.Leu1399Arg)
c.2554T>G
n.683T>G
c.3613T>G
c.2827T>G
c.2862T>G
c.2844T>G
c.2678T>G (p.Leu893Arg)
c.739T>G
c.2101T>G (n.2101T>G)
c.2533T>G
c.2038T>G (n.2038T>G)
c.2490T>G
n.693T>G
c.2444T>G (p.Leu815Arg)
c.4292T>G (p.Leu1431Arg)
n.504T>G
n.2628T>G
n.2163T>G
c.269T>G (p.Leu90Arg)
n.2013T>G
c.4199T>G (p.Leu1400Arg)
n.4580T>G
19g.11041327G>ACA505743807SMARCA4c.4287G>A (p.Leu1429=)
c.4191G>A (p.Leu1397=)
c.4092G>A (p.Leu1364=)
c.358G>A
c.318G>A (p.Leu106=)
c.132G>A (p.Leu44=)
n.2432G>A
c.2685G>A (p.Leu895=)
c.1648G>A
c.4188G>A (p.Leu1396=)
c.2748G>A (p.Leu916=)
c.4101G>A (p.Leu1367=)
c.2476G>A
c.4197G>A (p.Leu1399=)
c.2555G>A
n.684G>A
c.3614G>A
c.2828G>A
c.2863G>A
c.2845G>A
c.2679G>A (p.Leu893=)
c.740G>A
c.2102G>A (n.2102G>A)
c.2534G>A
c.2039G>A (n.2039G>A)
c.2491G>A
n.694G>A
c.2445G>A (p.Leu815=)
c.4293G>A (p.Leu1431=)
n.505G>A
n.2629G>A
n.2164G>A
c.270G>A (p.Leu90=)
n.2014G>A
c.4200G>A (p.Leu1400=)
n.4581G>A
 ClinVar dbSNP gnomAD v4
19g.11041327G>CCA505743808SMARCA4c.4287G>C (p.Leu1429=)
c.4191G>C (p.Leu1397=)
c.4092G>C (p.Leu1364=)
c.358G>C
c.318G>C (p.Leu106=)
c.132G>C (p.Leu44=)
n.2432G>C
c.2685G>C (p.Leu895=)
c.1648G>C
c.4188G>C (p.Leu1396=)
c.2748G>C (p.Leu916=)
c.4101G>C (p.Leu1367=)
c.2476G>C
c.4197G>C (p.Leu1399=)
c.2555G>C
n.684G>C
c.3614G>C
c.2828G>C
c.2863G>C
c.2845G>C
c.2679G>C (p.Leu893=)
c.740G>C
c.2102G>C (n.2102G>C)
c.2534G>C
c.2039G>C (n.2039G>C)
c.2491G>C
n.694G>C
c.2445G>C (p.Leu815=)
c.4293G>C (p.Leu1431=)
n.505G>C
n.2629G>C
n.2164G>C
c.270G>C (p.Leu90=)
n.2014G>C
c.4200G>C (p.Leu1400=)
n.4581G>C
 dbSNP
19g.11041327G>TCA505743806SMARCA4c.4287G>T (p.Leu1429=)
c.4191G>T (p.Leu1397=)
c.4092G>T (p.Leu1364=)
c.358G>T
c.318G>T (p.Leu106=)
c.132G>T (p.Leu44=)
n.2432G>T
c.2685G>T (p.Leu895=)
c.1648G>T
c.4188G>T (p.Leu1396=)
c.2748G>T (p.Leu916=)
c.4101G>T (p.Leu1367=)
c.2476G>T
c.4197G>T (p.Leu1399=)
c.2555G>T
n.684G>T
c.3614G>T
c.2828G>T
c.2863G>T
c.2845G>T
c.2679G>T (p.Leu893=)
c.740G>T
c.2102G>T (n.2102G>T)
c.2534G>T
c.2039G>T (n.2039G>T)
c.2491G>T
n.694G>T
c.2445G>T (p.Leu815=)
c.4293G>T (p.Leu1431=)
n.505G>T
n.2629G>T
n.2164G>T
c.270G>T (p.Leu90=)
n.2014G>T
c.4200G>T (p.Leu1400=)
n.4581G>T
 dbSNP
19g.11041331_11041333delCA2580613046SMARCA4c.4291_4293del (p.Glu1431del)
c.4195_4197del (p.Glu1399del)
c.4096_4098del (p.Glu1366del)
c.362_364del
c.322_324del (p.Glu108del)
c.136_138del (p.Glu46del)
n.2436_2438del
c.2689_2691del (p.Glu897del)
c.1652_1654del
c.4192_4194del (p.Glu1398del)
c.2752_2754del (p.Glu918del)
c.4105_4107del (p.Glu1369del)
c.2480_2482del
c.4201_4203del (p.Glu1401del)
c.2559_2561del
n.688_690del
c.3618_3620del
c.2832_2834del
c.2867_2869del
c.2849_2851del
c.2683_2685del (p.Glu895del)
c.744_746del
c.2106_2108del (n.2106_2108del)
c.2538_2540del
c.2043_2045del (n.2043_2045del)
c.2495_2497del
n.698_700del
c.2449_2451del (p.Glu817del)
c.4297_4299del (p.Glu1433del)
n.509_511del
n.2633_2635del
n.2168_2170del
c.274_276del (p.Glu92del)
n.2018_2020del
c.4204_4206del (p.Glu1402del)
n.4585_4587del
 ClinVar
19g.11041328G>ACA404072782SMARCA4c.4288G>A (p.Glu1430Lys)
c.4192G>A (p.Glu1398Lys)
c.4093G>A (p.Glu1365Lys)
c.359G>A
c.319G>A (p.Glu107Lys)
c.133G>A (p.Glu45Lys)
n.2433G>A
c.2686G>A (p.Glu896Lys)
c.1649G>A
c.4189G>A (p.Glu1397Lys)
c.2749G>A (p.Glu917Lys)
c.4102G>A (p.Glu1368Lys)
c.2477G>A
c.4198G>A (p.Glu1400Lys)
c.2556G>A
n.685G>A
c.3615G>A
c.2829G>A
c.2864G>A
c.2846G>A
c.2680G>A (p.Glu894Lys)
c.741G>A
c.2103G>A (n.2103G>A)
c.2535G>A
c.2040G>A (n.2040G>A)
c.2492G>A
n.695G>A
c.2446G>A (p.Glu816Lys)
c.4294G>A (p.Glu1432Lys)
n.506G>A
n.2630G>A
n.2165G>A
c.271G>A (p.Glu91Lys)
n.2015G>A
c.4201G>A (p.Glu1401Lys)
n.4582G>A
 dbSNP
19g.11041328G>CCA404072784SMARCA4c.4288G>C (p.Glu1430Gln)
c.4192G>C (p.Glu1398Gln)
c.4093G>C (p.Glu1365Gln)
c.359G>C
c.319G>C (p.Glu107Gln)
c.133G>C (p.Glu45Gln)
n.2433G>C
c.2686G>C (p.Glu896Gln)
c.1649G>C
c.4189G>C (p.Glu1397Gln)
c.2749G>C (p.Glu917Gln)
c.4102G>C (p.Glu1368Gln)
c.2477G>C
c.4198G>C (p.Glu1400Gln)
c.2556G>C
n.685G>C
c.3615G>C
c.2829G>C
c.2864G>C
c.2846G>C
c.2680G>C (p.Glu894Gln)
c.741G>C
c.2103G>C (n.2103G>C)
c.2535G>C
c.2040G>C (n.2040G>C)
c.2492G>C
n.695G>C
c.2446G>C (p.Glu816Gln)
c.4294G>C (p.Glu1432Gln)
n.506G>C
n.2630G>C
n.2165G>C
c.271G>C (p.Glu91Gln)
n.2015G>C
c.4201G>C (p.Glu1401Gln)
n.4582G>C
 dbSNP
19g.11041328G>TCA404072786SMARCA4c.4288G>T (p.Glu1430Ter)
c.4192G>T (p.Glu1398Ter)
c.4093G>T (p.Glu1365Ter)
c.359G>T
c.319G>T (p.Glu107Ter)
c.133G>T (p.Glu45Ter)
n.2433G>T
c.2686G>T (p.Glu896Ter)
c.1649G>T
c.4189G>T (p.Glu1397Ter)
c.2749G>T (p.Glu917Ter)
c.4102G>T (p.Glu1368Ter)
c.2477G>T
c.4198G>T (p.Glu1400Ter)
c.2556G>T
n.685G>T
c.3615G>T
c.2829G>T
c.2864G>T
c.2846G>T
c.2680G>T (p.Glu894Ter)
c.741G>T
c.2103G>T (n.2103G>T)
c.2535G>T
c.2040G>T (n.2040G>T)
c.2492G>T
n.695G>T
c.2446G>T (p.Glu816Ter)
c.4294G>T (p.Glu1432Ter)
n.506G>T
n.2630G>T
n.2165G>T
c.271G>T (p.Glu91Ter)
n.2015G>T
c.4201G>T (p.Glu1401Ter)
n.4582G>T
 dbSNP
19g.11041329A>CCA404072788SMARCA4c.4289A>C (p.Glu1430Ala)
c.4193A>C (p.Glu1398Ala)
c.4094A>C (p.Glu1365Ala)
c.360A>C
c.320A>C (p.Glu107Ala)
c.134A>C (p.Glu45Ala)
n.2434A>C
c.2687A>C (p.Glu896Ala)
c.1650A>C
c.4190A>C (p.Glu1397Ala)
c.2750A>C (p.Glu917Ala)
c.4103A>C (p.Glu1368Ala)
c.2478A>C
c.4199A>C (p.Glu1400Ala)
c.2557A>C
n.686A>C
c.3616A>C
c.2830A>C
c.2865A>C
c.2847A>C
c.2681A>C (p.Glu894Ala)
c.742A>C
c.2104A>C (n.2104A>C)
c.2536A>C
c.2041A>C (n.2041A>C)
c.2493A>C
n.696A>C
c.2447A>C (p.Glu816Ala)
c.4295A>C (p.Glu1432Ala)
n.507A>C
n.2631A>C
n.2166A>C
c.272A>C (p.Glu91Ala)
n.2016A>C
c.4202A>C (p.Glu1401Ala)
n.4583A>C
19g.11041329A>GCA404072790SMARCA4c.4289A>G (p.Glu1430Gly)
c.4193A>G (p.Glu1398Gly)
c.4094A>G (p.Glu1365Gly)
c.360A>G
c.320A>G (p.Glu107Gly)
c.134A>G (p.Glu45Gly)
n.2434A>G
c.2687A>G (p.Glu896Gly)
c.1650A>G
c.4190A>G (p.Glu1397Gly)
c.2750A>G (p.Glu917Gly)
c.4103A>G (p.Glu1368Gly)
c.2478A>G
c.4199A>G (p.Glu1400Gly)
c.2557A>G
n.686A>G
c.3616A>G
c.2830A>G
c.2865A>G
c.2847A>G
c.2681A>G (p.Glu894Gly)
c.742A>G
c.2104A>G (n.2104A>G)
c.2536A>G
c.2041A>G (n.2041A>G)
c.2493A>G
n.696A>G
c.2447A>G (p.Glu816Gly)
c.4295A>G (p.Glu1432Gly)
n.507A>G
n.2631A>G
n.2166A>G
c.272A>G (p.Glu91Gly)
n.2016A>G
c.4202A>G (p.Glu1401Gly)
n.4583A>G
 dbSNP
19g.11041329A>TCA404072791SMARCA4c.4289A>T (p.Glu1430Val)
c.4193A>T (p.Glu1398Val)
c.4094A>T (p.Glu1365Val)
c.360A>T
c.320A>T (p.Glu107Val)
c.134A>T (p.Glu45Val)
n.2434A>T
c.2687A>T (p.Glu896Val)
c.1650A>T
c.4190A>T (p.Glu1397Val)
c.2750A>T (p.Glu917Val)
c.4103A>T (p.Glu1368Val)
c.2478A>T
c.4199A>T (p.Glu1400Val)
c.2557A>T
n.686A>T
c.3616A>T
c.2830A>T
c.2865A>T
c.2847A>T
c.2681A>T (p.Glu894Val)
c.742A>T
c.2104A>T (n.2104A>T)
c.2536A>T
c.2041A>T (n.2041A>T)
c.2493A>T
n.696A>T
c.2447A>T (p.Glu816Val)
c.4295A>T (p.Glu1432Val)
n.507A>T
n.2631A>T
n.2166A>T
c.272A>T (p.Glu91Val)
n.2016A>T
c.4202A>T (p.Glu1401Val)
n.4583A>T
 dbSNP
19g.11041330G>ACA505743785SMARCA4c.4290G>A (p.Glu1430=)
c.4194G>A (p.Glu1398=)
c.4095G>A (p.Glu1365=)
c.361G>A
c.321G>A (p.Glu107=)
c.135G>A (p.Glu45=)
n.2435G>A
c.2688G>A (p.Glu896=)
c.1651G>A
c.4191G>A (p.Glu1397=)
c.2751G>A (p.Glu917=)
c.4104G>A (p.Glu1368=)
c.2479G>A
c.4200G>A (p.Glu1400=)
c.2558G>A
n.687G>A
c.3617G>A
c.2831G>A
c.2866G>A
c.2848G>A
c.2682G>A (p.Glu894=)
c.743G>A
c.2105G>A (n.2105G>A)
c.2537G>A
c.2042G>A (n.2042G>A)
c.2494G>A
n.697G>A
c.2448G>A (p.Glu816=)
c.4296G>A (p.Glu1432=)
n.508G>A
n.2632G>A
n.2167G>A
c.273G>A (p.Glu91=)
n.2017G>A
c.4203G>A (p.Glu1401=)
n.4584G>A
 ClinVar dbSNP gnomAD v4
19g.11041330G>CCA404072793SMARCA4c.4290G>C (p.Glu1430Asp)
c.4194G>C (p.Glu1398Asp)
c.4095G>C (p.Glu1365Asp)
c.361G>C
c.321G>C (p.Glu107Asp)
c.135G>C (p.Glu45Asp)
n.2435G>C
c.2688G>C (p.Glu896Asp)
c.1651G>C
c.4191G>C (p.Glu1397Asp)
c.2751G>C (p.Glu917Asp)
c.4104G>C (p.Glu1368Asp)
c.2479G>C
c.4200G>C (p.Glu1400Asp)
c.2558G>C
n.687G>C
c.3617G>C
c.2831G>C
c.2866G>C
c.2848G>C
c.2682G>C (p.Glu894Asp)
c.743G>C
c.2105G>C (n.2105G>C)
c.2537G>C
c.2042G>C (n.2042G>C)
c.2494G>C
n.697G>C
c.2448G>C (p.Glu816Asp)
c.4296G>C (p.Glu1432Asp)
n.508G>C
n.2632G>C
n.2167G>C
c.273G>C (p.Glu91Asp)
n.2017G>C
c.4203G>C (p.Glu1401Asp)
n.4584G>C
 ClinVar dbSNP
19g.11041330G=CA2322735076SMARCA4c.4290G= (p.Glu1430=)
c.4194G= (p.Glu1398=)
c.4095G= (p.Glu1365=)
c.361G=
c.321G= (p.Glu107=)
c.135G= (p.Glu45=)
n.2435G=
c.2688G= (p.Glu896=)
c.1651G=
c.4191G= (p.Glu1397=)
c.2751G= (p.Glu917=)
c.4104G= (p.Glu1368=)
c.2479G=
c.4200G= (p.Glu1400=)
c.2558G=
n.687G=
c.3617G=
c.2831G=
c.2866G=
c.2848G=
c.2682G= (p.Glu894=)
c.743G=
c.2105G= (n.2105G=)
c.2537G=
c.2042G= (n.2042G=)
c.2494G=
n.697G=
c.2448G= (p.Glu816=)
c.4296G= (p.Glu1432=)
n.508G=
n.2632G=
n.2167G=
c.273G= (p.Glu91=)
n.2017G=
c.4203G= (p.Glu1401=)
n.4584G=
19g.11041330G>TCA404072795SMARCA4c.4290G>T (p.Glu1430Asp)
c.4194G>T (p.Glu1398Asp)
c.4095G>T (p.Glu1365Asp)
c.361G>T
c.321G>T (p.Glu107Asp)
c.135G>T (p.Glu45Asp)
n.2435G>T
c.2688G>T (p.Glu896Asp)
c.1651G>T
c.4191G>T (p.Glu1397Asp)
c.2751G>T (p.Glu917Asp)
c.4104G>T (p.Glu1368Asp)
c.2479G>T
c.4200G>T (p.Glu1400Asp)
c.2558G>T
n.687G>T
c.3617G>T
c.2831G>T
c.2866G>T
c.2848G>T
c.2682G>T (p.Glu894Asp)
c.743G>T
c.2105G>T (n.2105G>T)
c.2537G>T
c.2042G>T (n.2042G>T)
c.2494G>T
n.697G>T
c.2448G>T (p.Glu816Asp)
c.4296G>T (p.Glu1432Asp)
n.508G>T
n.2632G>T
n.2167G>T
c.273G>T (p.Glu91Asp)
n.2017G>T
c.4203G>T (p.Glu1401Asp)
n.4584G>T
 dbSNP gnomAD v4
19g.11041331G>ACA404072798SMARCA4c.4291G>A (p.Glu1431Lys)
c.4195G>A (p.Glu1399Lys)
c.4096G>A (p.Glu1366Lys)
c.362G>A
c.322G>A (p.Glu108Lys)
c.136G>A (p.Glu46Lys)
n.2436G>A
c.2689G>A (p.Glu897Lys)
c.1652G>A
c.4192G>A (p.Glu1398Lys)
c.2752G>A (p.Glu918Lys)
c.4105G>A (p.Glu1369Lys)
c.2480G>A
c.4201G>A (p.Glu1401Lys)
c.2559G>A
n.688G>A
c.3618G>A
c.2832G>A
c.2867G>A
c.2849G>A
c.2683G>A (p.Glu895Lys)
c.744G>A
c.2106G>A (n.2106G>A)
c.2538G>A
c.2043G>A (n.2043G>A)
c.2495G>A
n.698G>A
c.2449G>A (p.Glu817Lys)
c.4297G>A (p.Glu1433Lys)
n.509G>A
n.2633G>A
n.2168G>A
c.274G>A (p.Glu92Lys)
n.2018G>A
c.4204G>A (p.Glu1402Lys)
n.4585G>A
 dbSNP
19g.11041331G>CCA404072800SMARCA4c.4291G>C (p.Glu1431Gln)
c.4195G>C (p.Glu1399Gln)
c.4096G>C (p.Glu1366Gln)
c.362G>C
c.322G>C (p.Glu108Gln)
c.136G>C (p.Glu46Gln)
n.2436G>C
c.2689G>C (p.Glu897Gln)
c.1652G>C
c.4192G>C (p.Glu1398Gln)
c.2752G>C (p.Glu918Gln)
c.4105G>C (p.Glu1369Gln)
c.2480G>C
c.4201G>C (p.Glu1401Gln)
c.2559G>C
n.688G>C
c.3618G>C
c.2832G>C
c.2867G>C
c.2849G>C
c.2683G>C (p.Glu895Gln)
c.744G>C
c.2106G>C (n.2106G>C)
c.2538G>C
c.2043G>C (n.2043G>C)
c.2495G>C
n.698G>C
c.2449G>C (p.Glu817Gln)
c.4297G>C (p.Glu1433Gln)
n.509G>C
n.2633G>C
n.2168G>C
c.274G>C (p.Glu92Gln)
n.2018G>C
c.4204G>C (p.Glu1402Gln)
n.4585G>C
 dbSNP
19g.11041331G>TCA404072801SMARCA4c.4291G>T (p.Glu1431Ter)
c.4195G>T (p.Glu1399Ter)
c.4096G>T (p.Glu1366Ter)
c.362G>T
c.322G>T (p.Glu108Ter)
c.136G>T (p.Glu46Ter)
n.2436G>T
c.2689G>T (p.Glu897Ter)
c.1652G>T
c.4192G>T (p.Glu1398Ter)
c.2752G>T (p.Glu918Ter)
c.4105G>T (p.Glu1369Ter)
c.2480G>T
c.4201G>T (p.Glu1401Ter)
c.2559G>T
n.688G>T
c.3618G>T
c.2832G>T
c.2867G>T
c.2849G>T
c.2683G>T (p.Glu895Ter)
c.744G>T
c.2106G>T (n.2106G>T)
c.2538G>T
c.2043G>T (n.2043G>T)
c.2495G>T
n.698G>T
c.2449G>T (p.Glu817Ter)
c.4297G>T (p.Glu1433Ter)
n.509G>T
n.2633G>T
n.2168G>T
c.274G>T (p.Glu92Ter)
n.2018G>T
c.4204G>T (p.Glu1402Ter)
n.4585G>T
 dbSNP
19g.11041332A>CCA404072802SMARCA4c.4292A>C (p.Glu1431Ala)
c.4196A>C (p.Glu1399Ala)
c.4097A>C (p.Glu1366Ala)
c.363A>C
c.323A>C (p.Glu108Ala)
c.137A>C (p.Glu46Ala)
n.2437A>C
c.2690A>C (p.Glu897Ala)
c.1653A>C
c.4193A>C (p.Glu1398Ala)
c.2753A>C (p.Glu918Ala)
c.4106A>C (p.Glu1369Ala)
c.2481A>C
c.4202A>C (p.Glu1401Ala)
c.2560A>C
n.689A>C
c.3619A>C
c.2833A>C
c.2868A>C
c.2850A>C
c.2684A>C (p.Glu895Ala)
c.745A>C
c.2107A>C (n.2107A>C)
c.2539A>C
c.2044A>C (n.2044A>C)
c.2496A>C
n.699A>C
c.2450A>C (p.Glu817Ala)
c.4298A>C (p.Glu1433Ala)
n.510A>C
n.2634A>C
n.2169A>C
c.275A>C (p.Glu92Ala)
n.2019A>C
c.4205A>C (p.Glu1402Ala)
n.4586A>C
19g.11041332A>GCA404072803SMARCA4c.4292A>G (p.Glu1431Gly)
c.4196A>G (p.Glu1399Gly)
c.4097A>G (p.Glu1366Gly)
c.363A>G
c.323A>G (p.Glu108Gly)
c.137A>G (p.Glu46Gly)
n.2437A>G
c.2690A>G (p.Glu897Gly)
c.1653A>G
c.4193A>G (p.Glu1398Gly)
c.2753A>G (p.Glu918Gly)
c.4106A>G (p.Glu1369Gly)
c.2481A>G
c.4202A>G (p.Glu1401Gly)
c.2560A>G
n.689A>G
c.3619A>G
c.2833A>G
c.2868A>G
c.2850A>G
c.2684A>G (p.Glu895Gly)
c.745A>G
c.2107A>G (n.2107A>G)
c.2539A>G
c.2044A>G (n.2044A>G)
c.2496A>G
n.699A>G
c.2450A>G (p.Glu817Gly)
c.4298A>G (p.Glu1433Gly)
n.510A>G
n.2634A>G
n.2169A>G
c.275A>G (p.Glu92Gly)
n.2019A>G
c.4205A>G (p.Glu1402Gly)
n.4586A>G
 dbSNP
19g.11041332A>TCA404072804SMARCA4c.4292A>T (p.Glu1431Val)
c.4196A>T (p.Glu1399Val)
c.4097A>T (p.Glu1366Val)
c.363A>T
c.323A>T (p.Glu108Val)
c.137A>T (p.Glu46Val)
n.2437A>T
c.2690A>T (p.Glu897Val)
c.1653A>T
c.4193A>T (p.Glu1398Val)
c.2753A>T (p.Glu918Val)
c.4106A>T (p.Glu1369Val)
c.2481A>T
c.4202A>T (p.Glu1401Val)
c.2560A>T
n.689A>T
c.3619A>T
c.2833A>T
c.2868A>T
c.2850A>T
c.2684A>T (p.Glu895Val)
c.745A>T
c.2107A>T (n.2107A>T)
c.2539A>T
c.2044A>T (n.2044A>T)
c.2496A>T
n.699A>T
c.2450A>T (p.Glu817Val)
c.4298A>T (p.Glu1433Val)
n.510A>T
n.2634A>T
n.2169A>T
c.275A>T (p.Glu92Val)
n.2019A>T
c.4205A>T (p.Glu1402Val)
n.4586A>T
 dbSNP
19g.11041332_11041333insTCCCCA2572381247SMARCA4c.4292_4293insTCCC (p.Glu1431AspfsTer?)
c.4196_4197insTCCC (p.Glu1399AspfsTer?)
c.4097_4098insTCCC (p.Glu1366AspfsTer?)
c.363_364insTCCC
c.323_324insTCCC (p.Glu108AspfsTer?)
c.137_138insTCCC (p.Glu46AspfsTer?)
n.2437_2438insTCCC
c.2690_2691insTCCC (p.Glu897AspfsTer?)
c.1653_1654insTCCC
c.4193_4194insTCCC (p.Glu1398AspfsTer?)
c.2753_2754insTCCC (p.Glu918AspfsTer?)
c.4106_4107insTCCC (p.Glu1369AspfsTer?)
c.2481_2482insTCCC
c.4202_4203insTCCC (p.Glu1401AspfsTer?)
c.2560_2561insTCCC
n.689_690insTCCC
c.3619_3620insTCCC
c.2833_2834insTCCC
c.2868_2869insTCCC
c.2850_2851insTCCC
c.2684_2685insTCCC (p.Glu895AspfsTer?)
c.745_746insTCCC
c.2107_2108insTCCC (n.2107_2108insTCCC)
c.2539_2540insTCCC
c.2044_2045insTCCC (n.2044_2045insTCCC)
c.2496_2497insTCCC
n.699_700insTCCC
c.2450_2451insTCCC (p.Glu817AspfsTer?)
c.4298_4299insTCCC (p.Glu1433AspfsTer?)
n.510_511insTCCC
n.2634_2635insTCCC
n.2169_2170insTCCC
c.275_276insTCCC (p.Glu92AspfsTer?)
n.2019_2020insTCCC
c.4205_4206insTCCC (p.Glu1402AspfsTer?)
n.4586_4587insTCCC
19g.11041333G>ACA505743786SMARCA4c.4293G>A (p.Glu1431=)
c.4197G>A (p.Glu1399=)
c.4098G>A (p.Glu1366=)
c.364G>A
c.324G>A (p.Glu108=)
c.138G>A (p.Glu46=)
n.2438G>A
c.2691G>A (p.Glu897=)
c.1654G>A
c.4194G>A (p.Glu1398=)
c.2754G>A (p.Glu918=)
c.4107G>A (p.Glu1369=)
c.2482G>A
c.4203G>A (p.Glu1401=)
c.2561G>A
n.690G>A
c.3620G>A
c.2834G>A
c.2869G>A
c.2851G>A
c.2685G>A (p.Glu895=)
c.746G>A
c.2108G>A (n.2108G>A)
c.2540G>A
c.2045G>A (n.2045G>A)
c.2497G>A
n.700G>A
c.2451G>A (p.Glu817=)
c.4299G>A (p.Glu1433=)
n.511G>A
n.2635G>A
n.2170G>A
c.276G>A (p.Glu92=)
n.2020G>A
c.4206G>A (p.Glu1402=)
n.4587G>A
 dbSNP
19g.11041333G>CCA404072805SMARCA4c.4293G>C (p.Glu1431Asp)
c.4197G>C (p.Glu1399Asp)
c.4098G>C (p.Glu1366Asp)
c.364G>C
c.324G>C (p.Glu108Asp)
c.138G>C (p.Glu46Asp)
n.2438G>C
c.2691G>C (p.Glu897Asp)
c.1654G>C
c.4194G>C (p.Glu1398Asp)
c.2754G>C (p.Glu918Asp)
c.4107G>C (p.Glu1369Asp)
c.2482G>C
c.4203G>C (p.Glu1401Asp)
c.2561G>C
n.690G>C
c.3620G>C
c.2834G>C
c.2869G>C
c.2851G>C
c.2685G>C (p.Glu895Asp)
c.746G>C
c.2108G>C (n.2108G>C)
c.2540G>C
c.2045G>C (n.2045G>C)
c.2497G>C
n.700G>C
c.2451G>C (p.Glu817Asp)
c.4299G>C (p.Glu1433Asp)
n.511G>C
n.2635G>C
n.2170G>C
c.276G>C (p.Glu92Asp)
n.2020G>C
c.4206G>C (p.Glu1402Asp)
n.4587G>C
 dbSNP
19g.11041333G=CA2322735078SMARCA4c.4293G= (p.Glu1431=)
c.4197G= (p.Glu1399=)
c.4098G= (p.Glu1366=)
c.364G=
c.324G= (p.Glu108=)
c.138G= (p.Glu46=)
n.2438G=
c.2691G= (p.Glu897=)
c.1654G=
c.4194G= (p.Glu1398=)
c.2754G= (p.Glu918=)
c.4107G= (p.Glu1369=)
c.2482G=
c.4203G= (p.Glu1401=)
c.2561G=
n.690G=
c.3620G=
c.2834G=
c.2869G=
c.2851G=
c.2685G= (p.Glu895=)
c.746G=
c.2108G= (n.2108G=)
c.2540G=
c.2045G= (n.2045G=)
c.2497G=
n.700G=
c.2451G= (p.Glu817=)
c.4299G= (p.Glu1433=)
n.511G=
n.2635G=
n.2170G=
c.276G= (p.Glu92=)
n.2020G=
c.4206G= (p.Glu1402=)
n.4587G=
19g.11041333G>TCA404072806SMARCA4c.4293G>T (p.Glu1431Asp)
c.4197G>T (p.Glu1399Asp)
c.4098G>T (p.Glu1366Asp)
c.364G>T
c.324G>T (p.Glu108Asp)
c.138G>T (p.Glu46Asp)
n.2438G>T
c.2691G>T (p.Glu897Asp)
c.1654G>T
c.4194G>T (p.Glu1398Asp)
c.2754G>T (p.Glu918Asp)
c.4107G>T (p.Glu1369Asp)
c.2482G>T
c.4203G>T (p.Glu1401Asp)
c.2561G>T
n.690G>T
c.3620G>T
c.2834G>T
c.2869G>T
c.2851G>T
c.2685G>T (p.Glu895Asp)
c.746G>T
c.2108G>T (n.2108G>T)
c.2540G>T
c.2045G>T (n.2045G>T)
c.2497G>T
n.700G>T
c.2451G>T (p.Glu817Asp)
c.4299G>T (p.Glu1433Asp)
n.511G>T
n.2635G>T
n.2170G>T
c.276G>T (p.Glu92Asp)
n.2020G>T
c.4206G>T (p.Glu1402Asp)
n.4587G>T
 ClinVar dbSNP gnomAD v4
19g.11041334A=CA2322735079SMARCA4c.4294A= (p.Ile1432=)
c.4198A= (p.Ile1400=)
c.4099A= (p.Ile1367=)
c.365A=
c.325A= (p.Ile109=)
c.139A= (p.Ile47=)
n.2439A=
c.2692A= (p.Ile898=)
c.1655A=
c.4195A= (p.Ile1399=)
c.2755A= (p.Ile919=)
c.4108A= (p.Ile1370=)
c.2483A=
c.4204A= (p.Ile1402=)
c.2562A=
n.691A=
c.3621A=
c.2835A=
c.2870A=
c.2852A=
c.2686A= (p.Ile896=)
c.747A=
c.2109A= (n.2109A=)
c.2541A=
c.2046A= (n.2046A=)
c.2498A=
n.701A=
c.2452A= (p.Ile818=)
c.4300A= (p.Ile1434=)
n.512A=
n.2636A=
n.2171A=
c.277A= (p.Ile93=)
n.2021A=
c.4207A= (p.Ile1403=)
n.4588A=
19g.11041334A>CCA404072808SMARCA4c.4294A>C (p.Ile1432Leu)
c.4198A>C (p.Ile1400Leu)
c.4099A>C (p.Ile1367Leu)
c.365A>C
c.325A>C (p.Ile109Leu)
c.139A>C (p.Ile47Leu)
n.2439A>C
c.2692A>C (p.Ile898Leu)
c.1655A>C
c.4195A>C (p.Ile1399Leu)
c.2755A>C (p.Ile919Leu)
c.4108A>C (p.Ile1370Leu)
c.2483A>C
c.4204A>C (p.Ile1402Leu)
c.2562A>C
n.691A>C
c.3621A>C
c.2835A>C
c.2870A>C
c.2852A>C
c.2686A>C (p.Ile896Leu)
c.747A>C
c.2109A>C (n.2109A>C)
c.2541A>C
c.2046A>C (n.2046A>C)
c.2498A>C
n.701A>C
c.2452A>C (p.Ile818Leu)
c.4300A>C (p.Ile1434Leu)
n.512A>C
n.2636A>C
n.2171A>C
c.277A>C (p.Ile93Leu)
n.2021A>C
c.4207A>C (p.Ile1403Leu)
n.4588A>C
 dbSNP
19g.11041334A>GCA404072809SMARCA4c.4294A>G (p.Ile1432Val)
c.4198A>G (p.Ile1400Val)
c.4099A>G (p.Ile1367Val)
c.365A>G
c.325A>G (p.Ile109Val)
c.139A>G (p.Ile47Val)
n.2439A>G
c.2692A>G (p.Ile898Val)
c.1655A>G
c.4195A>G (p.Ile1399Val)
c.2755A>G (p.Ile919Val)
c.4108A>G (p.Ile1370Val)
c.2483A>G
c.4204A>G (p.Ile1402Val)
c.2562A>G
n.691A>G
c.3621A>G
c.2835A>G
c.2870A>G
c.2852A>G
c.2686A>G (p.Ile896Val)
c.747A>G
c.2109A>G (n.2109A>G)
c.2541A>G
c.2046A>G (n.2046A>G)
c.2498A>G
n.701A>G
c.2452A>G (p.Ile818Val)
c.4300A>G (p.Ile1434Val)
n.512A>G
n.2636A>G
n.2171A>G
c.277A>G (p.Ile93Val)
n.2021A>G
c.4207A>G (p.Ile1403Val)
n.4588A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11041334A>TCA404072811SMARCA4c.4294A>T (p.Ile1432Phe)
c.4198A>T (p.Ile1400Phe)
c.4099A>T (p.Ile1367Phe)
c.365A>T
c.325A>T (p.Ile109Phe)
c.139A>T (p.Ile47Phe)
n.2439A>T
c.2692A>T (p.Ile898Phe)
c.1655A>T
c.4195A>T (p.Ile1399Phe)
c.2755A>T (p.Ile919Phe)
c.4108A>T (p.Ile1370Phe)
c.2483A>T
c.4204A>T (p.Ile1402Phe)
c.2562A>T
n.691A>T
c.3621A>T
c.2835A>T
c.2870A>T
c.2852A>T
c.2686A>T (p.Ile896Phe)
c.747A>T
c.2109A>T (n.2109A>T)
c.2541A>T
c.2046A>T (n.2046A>T)
c.2498A>T
n.701A>T
c.2452A>T (p.Ile818Phe)
c.4300A>T (p.Ile1434Phe)
n.512A>T
n.2636A>T
n.2171A>T
c.277A>T (p.Ile93Phe)
n.2021A>T
c.4207A>T (p.Ile1403Phe)
n.4588A>T
 dbSNP
19g.11041335T>ACA404072818SMARCA4c.4295T>A (p.Ile1432Asn)
c.4199T>A (p.Ile1400Asn)
c.4100T>A (p.Ile1367Asn)
c.366T>A
c.326T>A (p.Ile109Asn)
c.140T>A (p.Ile47Asn)
n.2440T>A
c.2693T>A (p.Ile898Asn)
c.1656T>A
c.4196T>A (p.Ile1399Asn)
c.2756T>A (p.Ile919Asn)
c.4109T>A (p.Ile1370Asn)
c.2484T>A
c.4205T>A (p.Ile1402Asn)
c.2563T>A
n.692T>A
c.3622T>A
c.2836T>A
c.2871T>A
c.2853T>A
c.2687T>A (p.Ile896Asn)
c.748T>A
c.2110T>A (n.2110T>A)
c.2542T>A
c.2047T>A (n.2047T>A)
c.2499T>A
n.702T>A
c.2453T>A (p.Ile818Asn)
c.4301T>A (p.Ile1434Asn)
n.513T>A
n.2637T>A
n.2172T>A
c.278T>A (p.Ile93Asn)
n.2022T>A
c.4208T>A (p.Ile1403Asn)
n.4589T>A
 dbSNP
19g.11041335T>CCA404072816SMARCA4c.4295T>C (p.Ile1432Thr)
c.4199T>C (p.Ile1400Thr)
c.4100T>C (p.Ile1367Thr)
c.366T>C
c.326T>C (p.Ile109Thr)
c.140T>C (p.Ile47Thr)
n.2440T>C
c.2693T>C (p.Ile898Thr)
c.1656T>C
c.4196T>C (p.Ile1399Thr)
c.2756T>C (p.Ile919Thr)
c.4109T>C (p.Ile1370Thr)
c.2484T>C
c.4205T>C (p.Ile1402Thr)
c.2563T>C
n.692T>C
c.3622T>C
c.2836T>C
c.2871T>C
c.2853T>C
c.2687T>C (p.Ile896Thr)
c.748T>C
c.2110T>C (n.2110T>C)
c.2542T>C
c.2047T>C (n.2047T>C)
c.2499T>C
n.702T>C
c.2453T>C (p.Ile818Thr)
c.4301T>C (p.Ile1434Thr)
n.513T>C
n.2637T>C
n.2172T>C
c.278T>C (p.Ile93Thr)
n.2022T>C
c.4208T>C (p.Ile1403Thr)
n.4589T>C
 dbSNP
19g.11041335T>GCA404072813SMARCA4c.4295T>G (p.Ile1432Ser)
c.4199T>G (p.Ile1400Ser)
c.4100T>G (p.Ile1367Ser)
c.366T>G
c.326T>G (p.Ile109Ser)
c.140T>G (p.Ile47Ser)
n.2440T>G
c.2693T>G (p.Ile898Ser)
c.1656T>G
c.4196T>G (p.Ile1399Ser)
c.2756T>G (p.Ile919Ser)
c.4109T>G (p.Ile1370Ser)
c.2484T>G
c.4205T>G (p.Ile1402Ser)
c.2563T>G
n.692T>G
c.3622T>G
c.2836T>G
c.2871T>G
c.2853T>G
c.2687T>G (p.Ile896Ser)
c.748T>G
c.2110T>G (n.2110T>G)
c.2542T>G
c.2047T>G (n.2047T>G)
c.2499T>G
n.702T>G
c.2453T>G (p.Ile818Ser)
c.4301T>G (p.Ile1434Ser)
n.513T>G
n.2637T>G
n.2172T>G
c.278T>G (p.Ile93Ser)
n.2022T>G
c.4208T>G (p.Ile1403Ser)
n.4589T>G
 dbSNP
19g.11041337_11041348delCA2582467039SMARCA4c.4297_4308del (p.Glu1433_Val1436del)
c.4201_4212del (p.Glu1401_Val1404del)
c.4102_4113del (p.Glu1368_Val1371del)
c.368_379del
c.328_339del (p.Glu110_Val113del)
c.142_153del (p.Glu48_Val51del)
n.2442_2453del
c.2695_2706del (p.Glu899_Val902del)
c.1658_1669del
c.4198_4209del (p.Glu1400_Val1403del)
c.2758_2769del (p.Glu920_Val923del)
c.4111_4122del (p.Glu1371_Val1374del)
c.2486_2497del
c.4207_4218del (p.Glu1403_Val1406del)
c.2565_2576del
n.694_705del
c.3624_3635del
c.2838_2849del
c.2873_2884del
c.2855_2866del
c.2689_2700del (p.Glu897_Val900del)
c.750_761del
c.2112_2123del (n.2112_2123del)
c.2544_2555del
c.2049_2060del (n.2049_2060del)
c.2501_2512del
n.704_715del
c.2455_2466del (p.Glu819_Val822del)
c.4303_4314del (p.Glu1435_Val1438del)
n.515_526del
n.2639_2650del
n.2174_2185del
c.280_291del (p.Glu94_Val97del)
n.2024_2035del
c.4210_4221del (p.Glu1404_Val1407del)
n.4591_4602del
 gnomAD v4
19g.11041336C>ACA505743787SMARCA4c.4296C>A (p.Ile1432=)
c.4200C>A (p.Ile1400=)
c.4101C>A (p.Ile1367=)
c.367C>A
c.327C>A (p.Ile109=)
c.141C>A (p.Ile47=)
n.2441C>A
c.2694C>A (p.Ile898=)
c.1657C>A
c.4197C>A (p.Ile1399=)
c.2757C>A (p.Ile919=)
c.4110C>A (p.Ile1370=)
c.2485C>A
c.4206C>A (p.Ile1402=)
c.2564C>A
n.693C>A
c.3623C>A
c.2837C>A
c.2872C>A
c.2854C>A
c.2688C>A (p.Ile896=)
c.749C>A
c.2111C>A (n.2111C>A)
c.2543C>A
c.2048C>A (n.2048C>A)
c.2500C>A
n.703C>A
c.2454C>A (p.Ile818=)
c.4302C>A (p.Ile1434=)
n.514C>A
n.2638C>A
n.2173C>A
c.279C>A (p.Ile93=)
n.2023C>A
c.4209C>A (p.Ile1403=)
n.4590C>A
 dbSNP gnomAD v4
19g.11041336C=CA2322735081SMARCA4c.4296C= (p.Ile1432=)
c.4200C= (p.Ile1400=)
c.4101C= (p.Ile1367=)
c.367C=
c.327C= (p.Ile109=)
c.141C= (p.Ile47=)
n.2441C=
c.2694C= (p.Ile898=)
c.1657C=
c.4197C= (p.Ile1399=)
c.2757C= (p.Ile919=)
c.4110C= (p.Ile1370=)
c.2485C=
c.4206C= (p.Ile1402=)
c.2564C=
n.693C=
c.3623C=
c.2837C=
c.2872C=
c.2854C=
c.2688C= (p.Ile896=)
c.749C=
c.2111C= (n.2111C=)
c.2543C=
c.2048C= (n.2048C=)
c.2500C=
n.703C=
c.2454C= (p.Ile818=)
c.4302C= (p.Ile1434=)
n.514C=
n.2638C=
n.2173C=
c.279C= (p.Ile93=)
n.2023C=
c.4209C= (p.Ile1403=)
n.4590C=
19g.11041336C>GCA305294297SMARCA4c.4296C>G (p.Ile1432Met)
c.4200C>G (p.Ile1400Met)
c.4101C>G (p.Ile1367Met)
c.367C>G
c.327C>G (p.Ile109Met)
c.141C>G (p.Ile47Met)
n.2441C>G
c.2694C>G (p.Ile898Met)
c.1657C>G
c.4197C>G (p.Ile1399Met)
c.2757C>G (p.Ile919Met)
c.4110C>G (p.Ile1370Met)
c.2485C>G
c.4206C>G (p.Ile1402Met)
c.2564C>G
n.693C>G
c.3623C>G
c.2837C>G
c.2872C>G
c.2854C>G
c.2688C>G (p.Ile896Met)
c.749C>G
c.2111C>G (n.2111C>G)
c.2543C>G
c.2048C>G (n.2048C>G)
c.2500C>G
n.703C>G
c.2454C>G (p.Ile818Met)
c.4302C>G (p.Ile1434Met)
n.514C>G
n.2638C>G
n.2173C>G
c.279C>G (p.Ile93Met)
n.2023C>G
c.4209C>G (p.Ile1403Met)
n.4590C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041336C>TCA9204674SMARCA4c.4296C>T (p.Ile1432=)
c.4200C>T (p.Ile1400=)
c.4101C>T (p.Ile1367=)
c.367C>T
c.327C>T (p.Ile109=)
c.141C>T (p.Ile47=)
n.2441C>T
c.2694C>T (p.Ile898=)
c.1657C>T
c.4197C>T (p.Ile1399=)
c.2757C>T (p.Ile919=)
c.4110C>T (p.Ile1370=)
c.2485C>T
c.4206C>T (p.Ile1402=)
c.2564C>T
n.693C>T
c.3623C>T
c.2837C>T
c.2872C>T
c.2854C>T
c.2688C>T (p.Ile896=)
c.749C>T
c.2111C>T (n.2111C>T)
c.2543C>T
c.2048C>T (n.2048C>T)
c.2500C>T
n.703C>T
c.2454C>T (p.Ile818=)
c.4302C>T (p.Ile1434=)
n.514C>T
n.2638C>T
n.2173C>T
c.279C>T (p.Ile93=)
n.2023C>T
c.4209C>T (p.Ile1403=)
n.4590C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.11041336_11041337delinsACCA2580096235SMARCA4c.4296_4297delinsAC (p.Glu1433Gln)
c.4200_4201delinsAC (p.Glu1401Gln)
c.4101_4102delinsAC (p.Glu1368Gln)
c.367_368delinsAC
c.327_328delinsAC (p.Glu110Gln)
c.141_142delinsAC (p.Glu48Gln)
n.2441_2442delinsAC
c.2694_2695delinsAC (p.Glu899Gln)
c.1657_1658delinsAC
c.4197_4198delinsAC (p.Glu1400Gln)
c.2757_2758delinsAC (p.Glu920Gln)
c.4110_4111delinsAC (p.Glu1371Gln)
c.2485_2486delinsAC
c.4206_4207delinsAC (p.Glu1403Gln)
c.2564_2565delinsAC
n.693_694delinsAC
c.3623_3624delinsAC
c.2837_2838delinsAC
c.2872_2873delinsAC
c.2854_2855delinsAC
c.2688_2689delinsAC (p.Glu897Gln)
c.749_750delinsAC
c.2111_2112delinsAC (n.2111_2112delinsAC)
c.2543_2544delinsAC
c.2048_2049delinsAC (n.2048_2049delinsAC)
c.2500_2501delinsAC
n.703_704delinsAC
c.2454_2455delinsAC (p.Glu819Gln)
c.4302_4303delinsAC (p.Glu1435Gln)
n.514_515delinsAC
n.2638_2639delinsAC
n.2173_2174delinsAC
c.279_280delinsAC (p.Glu94Gln)
n.2023_2024delinsAC
c.4209_4210delinsAC (p.Glu1404Gln)
n.4590_4591delinsAC
 ClinVar
19g.11041337G>ACA9204675SMARCA4c.4297G>A (p.Glu1433Lys)
c.4201G>A (p.Glu1401Lys)
c.4102G>A (p.Glu1368Lys)
c.368G>A
c.328G>A (p.Glu110Lys)
c.142G>A (p.Glu48Lys)
n.2442G>A
c.2695G>A (p.Glu899Lys)
c.1658G>A
c.4198G>A (p.Glu1400Lys)
c.2758G>A (p.Glu920Lys)
c.4111G>A (p.Glu1371Lys)
c.2486G>A
c.4207G>A (p.Glu1403Lys)
c.2565G>A
n.694G>A
c.3624G>A
c.2838G>A
c.2873G>A
c.2855G>A
c.2689G>A (p.Glu897Lys)
c.750G>A
c.2112G>A (n.2112G>A)
c.2544G>A
c.2049G>A (n.2049G>A)
c.2501G>A
n.704G>A
c.2455G>A (p.Glu819Lys)
c.4303G>A (p.Glu1435Lys)
n.515G>A
n.2639G>A
n.2174G>A
c.280G>A (p.Glu94Lys)
n.2024G>A
c.4210G>A (p.Glu1404Lys)
n.4591G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.11041337G>CCA404072827SMARCA4c.4297G>C (p.Glu1433Gln)
c.4201G>C (p.Glu1401Gln)
c.4102G>C (p.Glu1368Gln)
c.368G>C
c.328G>C (p.Glu110Gln)
c.142G>C (p.Glu48Gln)
n.2442G>C
c.2695G>C (p.Glu899Gln)
c.1658G>C
c.4198G>C (p.Glu1400Gln)
c.2758G>C (p.Glu920Gln)
c.4111G>C (p.Glu1371Gln)
c.2486G>C
c.4207G>C (p.Glu1403Gln)
c.2565G>C
n.694G>C
c.3624G>C
c.2838G>C
c.2873G>C
c.2855G>C
c.2689G>C (p.Glu897Gln)
c.750G>C
c.2112G>C (n.2112G>C)
c.2544G>C
c.2049G>C (n.2049G>C)
c.2501G>C
n.704G>C
c.2455G>C (p.Glu819Gln)
c.4303G>C (p.Glu1435Gln)
n.515G>C
n.2639G>C
n.2174G>C
c.280G>C (p.Glu94Gln)
n.2024G>C
c.4210G>C (p.Glu1404Gln)
n.4591G>C
 dbSNP
19g.11041337G=CA2322735084SMARCA4c.4297G= (p.Glu1433=)
c.4201G= (p.Glu1401=)
c.4102G= (p.Glu1368=)
c.368G=
c.328G= (p.Glu110=)
c.142G= (p.Glu48=)
n.2442G=
c.2695G= (p.Glu899=)
c.1658G=
c.4198G= (p.Glu1400=)
c.2758G= (p.Glu920=)
c.4111G= (p.Glu1371=)
c.2486G=
c.4207G= (p.Glu1403=)
c.2565G=
n.694G=
c.3624G=
c.2838G=
c.2873G=
c.2855G=
c.2689G= (p.Glu897=)
c.750G=
c.2112G= (n.2112G=)
c.2544G=
c.2049G= (n.2049G=)
c.2501G=
n.704G=
c.2455G= (p.Glu819=)
c.4303G= (p.Glu1435=)
n.515G=
n.2639G=
n.2174G=
c.280G= (p.Glu94=)
n.2024G=
c.4210G= (p.Glu1404=)
n.4591G=
19g.11041337G>TCA404072824SMARCA4c.4297G>T (p.Glu1433Ter)
c.4201G>T (p.Glu1401Ter)
c.4102G>T (p.Glu1368Ter)
c.368G>T
c.328G>T (p.Glu110Ter)
c.142G>T (p.Glu48Ter)
n.2442G>T
c.2695G>T (p.Glu899Ter)
c.1658G>T
c.4198G>T (p.Glu1400Ter)
c.2758G>T (p.Glu920Ter)
c.4111G>T (p.Glu1371Ter)
c.2486G>T
c.4207G>T (p.Glu1403Ter)
c.2565G>T
n.694G>T
c.3624G>T
c.2838G>T
c.2873G>T
c.2855G>T
c.2689G>T (p.Glu897Ter)
c.750G>T
c.2112G>T (n.2112G>T)
c.2544G>T
c.2049G>T (n.2049G>T)
c.2501G>T
n.704G>T
c.2455G>T (p.Glu819Ter)
c.4303G>T (p.Glu1435Ter)
n.515G>T
n.2639G>T
n.2174G>T
c.280G>T (p.Glu94Ter)
n.2024G>T
c.4210G>T (p.Glu1404Ter)
n.4591G>T
 gnomAD v4
19g.11041337_11041338insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCTCA2510606887SMARCA4c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1433ValfsTer?)
c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1401ValfsTer?)
c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1368ValfsTer?)
c.368_369insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.328_329insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu110ValfsTer?)
c.142_143insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu48ValfsTer?)
n.2442_2443insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2695_2696insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu899ValfsTer?)
c.1658_1659insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.4198_4199insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1400ValfsTer?)
c.2758_2759insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu920ValfsTer?)
c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1371ValfsTer?)
c.2486_2487insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.4207_4208insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1403ValfsTer?)
c.2565_2566insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
n.694_695insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.3624_3625insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2838_2839insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2873_2874insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2855_2856insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2689_2690insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu897ValfsTer?)
c.750_751insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2112_2113insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (n.2112_2113insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT)
c.2544_2545insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2049_2050insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (n.2049_2050insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT)
c.2501_2502insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
n.704_705insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.2455_2456insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu819ValfsTer?)
c.4303_4304insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1435ValfsTer?)
n.515_516insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
n.2639_2640insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
n.2174_2175insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.280_281insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu94ValfsTer?)
n.2024_2025insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
c.4210_4211insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT (p.Glu1404ValfsTer?)
n.4591_4592insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT
19g.11041338A>CCA404072830SMARCA4c.4298A>C (p.Glu1433Ala)
c.4202A>C (p.Glu1401Ala)
c.4103A>C (p.Glu1368Ala)
c.369A>C
c.329A>C (p.Glu110Ala)
c.143A>C (p.Glu48Ala)
n.2443A>C
c.2696A>C (p.Glu899Ala)
c.1659A>C
c.4199A>C (p.Glu1400Ala)
c.2759A>C (p.Glu920Ala)
c.4112A>C (p.Glu1371Ala)
c.2487A>C
c.4208A>C (p.Glu1403Ala)
c.2566A>C
n.695A>C
c.3625A>C
c.2839A>C
c.2874A>C
c.2856A>C
c.2690A>C (p.Glu897Ala)
c.751A>C
c.2113A>C (n.2113A>C)
c.2545A>C
c.2050A>C (n.2050A>C)
c.2502A>C
n.705A>C
c.2456A>C (p.Glu819Ala)
c.4304A>C (p.Glu1435Ala)
n.516A>C
n.2640A>C
n.2175A>C
c.281A>C (p.Glu94Ala)
n.2025A>C
c.4211A>C (p.Glu1404Ala)
n.4592A>C
19g.11041338A>GCA404072831SMARCA4c.4298A>G (p.Glu1433Gly)
c.4202A>G (p.Glu1401Gly)
c.4103A>G (p.Glu1368Gly)
c.369A>G
c.329A>G (p.Glu110Gly)
c.143A>G (p.Glu48Gly)
n.2443A>G
c.2696A>G (p.Glu899Gly)
c.1659A>G
c.4199A>G (p.Glu1400Gly)
c.2759A>G (p.Glu920Gly)
c.4112A>G (p.Glu1371Gly)
c.2487A>G
c.4208A>G (p.Glu1403Gly)
c.2566A>G
n.695A>G
c.3625A>G
c.2839A>G
c.2874A>G
c.2856A>G
c.2690A>G (p.Glu897Gly)
c.751A>G
c.2113A>G (n.2113A>G)
c.2545A>G
c.2050A>G (n.2050A>G)
c.2502A>G
n.705A>G
c.2456A>G (p.Glu819Gly)
c.4304A>G (p.Glu1435Gly)
n.516A>G
n.2640A>G
n.2175A>G
c.281A>G (p.Glu94Gly)
n.2025A>G
c.4211A>G (p.Glu1404Gly)
n.4592A>G
 dbSNP
19g.11041338A>TCA404072833SMARCA4c.4298A>T (p.Glu1433Val)
c.4202A>T (p.Glu1401Val)
c.4103A>T (p.Glu1368Val)
c.369A>T
c.329A>T (p.Glu110Val)
c.143A>T (p.Glu48Val)
n.2443A>T
c.2696A>T (p.Glu899Val)
c.1659A>T
c.4199A>T (p.Glu1400Val)
c.2759A>T (p.Glu920Val)
c.4112A>T (p.Glu1371Val)
c.2487A>T
c.4208A>T (p.Glu1403Val)
c.2566A>T
n.695A>T
c.3625A>T
c.2839A>T
c.2874A>T
c.2856A>T
c.2690A>T (p.Glu897Val)
c.751A>T
c.2113A>T (n.2113A>T)
c.2545A>T
c.2050A>T (n.2050A>T)
c.2502A>T
n.705A>T
c.2456A>T (p.Glu819Val)
c.4304A>T (p.Glu1435Val)
n.516A>T
n.2640A>T
n.2175A>T
c.281A>T (p.Glu94Val)
n.2025A>T
c.4211A>T (p.Glu1404Val)
n.4592A>T
 dbSNP
19g.11041339A>CCA404072834SMARCA4c.4299A>C (p.Glu1433Asp)
c.4203A>C (p.Glu1401Asp)
c.4104A>C (p.Glu1368Asp)
c.370A>C
c.330A>C (p.Glu110Asp)
c.144A>C (p.Glu48Asp)
n.2444A>C
c.2697A>C (p.Glu899Asp)
c.1660A>C
c.4200A>C (p.Glu1400Asp)
c.2760A>C (p.Glu920Asp)
c.4113A>C (p.Glu1371Asp)
c.2488A>C
c.4209A>C (p.Glu1403Asp)
c.2567A>C
n.696A>C
c.3626A>C
c.2840A>C
c.2875A>C
c.2857A>C
c.2691A>C (p.Glu897Asp)
c.752A>C
c.2114A>C (n.2114A>C)
c.2546A>C
c.2051A>C (n.2051A>C)
c.2503A>C
n.706A>C
c.2457A>C (p.Glu819Asp)
c.4305A>C (p.Glu1435Asp)
n.517A>C
n.2641A>C
n.2176A>C
c.282A>C (p.Glu94Asp)
n.2026A>C
c.4212A>C (p.Glu1404Asp)
n.4593A>C
19g.11041339A>GCA505743792SMARCA4c.4299A>G (p.Glu1433=)
c.4203A>G (p.Glu1401=)
c.4104A>G (p.Glu1368=)
c.370A>G
c.330A>G (p.Glu110=)
c.144A>G (p.Glu48=)
n.2444A>G
c.2697A>G (p.Glu899=)
c.1660A>G
c.4200A>G (p.Glu1400=)
c.2760A>G (p.Glu920=)
c.4113A>G (p.Glu1371=)
c.2488A>G
c.4209A>G (p.Glu1403=)
c.2567A>G
n.696A>G
c.3626A>G
c.2840A>G
c.2875A>G
c.2857A>G
c.2691A>G (p.Glu897=)
c.752A>G
c.2114A>G (n.2114A>G)
c.2546A>G
c.2051A>G (n.2051A>G)
c.2503A>G
n.706A>G
c.2457A>G (p.Glu819=)
c.4305A>G (p.Glu1435=)
n.517A>G
n.2641A>G
n.2176A>G
c.282A>G (p.Glu94=)
n.2026A>G
c.4212A>G (p.Glu1404=)
n.4593A>G
 dbSNP
19g.11041339A>TCA404072835SMARCA4c.4299A>T (p.Glu1433Asp)
c.4203A>T (p.Glu1401Asp)
c.4104A>T (p.Glu1368Asp)
c.370A>T
c.330A>T (p.Glu110Asp)
c.144A>T (p.Glu48Asp)
n.2444A>T
c.2697A>T (p.Glu899Asp)
c.1660A>T
c.4200A>T (p.Glu1400Asp)
c.2760A>T (p.Glu920Asp)
c.4113A>T (p.Glu1371Asp)
c.2488A>T
c.4209A>T (p.Glu1403Asp)
c.2567A>T
n.696A>T
c.3626A>T
c.2840A>T
c.2875A>T
c.2857A>T
c.2691A>T (p.Glu897Asp)
c.752A>T
c.2114A>T (n.2114A>T)
c.2546A>T
c.2051A>T (n.2051A>T)
c.2503A>T
n.706A>T
c.2457A>T (p.Glu819Asp)
c.4305A>T (p.Glu1435Asp)
n.517A>T
n.2641A>T
n.2176A>T
c.282A>T (p.Glu94Asp)
n.2026A>T
c.4212A>T (p.Glu1404Asp)
n.4593A>T
 dbSNP
19g.11041340G>ACA404072836SMARCA4c.4300G>A (p.Glu1434Lys)
c.4204G>A (p.Glu1402Lys)
c.4105G>A (p.Glu1369Lys)
c.371G>A
c.331G>A (p.Glu111Lys)
c.145G>A (p.Glu49Lys)
n.2445G>A
c.2698G>A (p.Glu900Lys)
c.1661G>A
c.4201G>A (p.Glu1401Lys)
c.2761G>A (p.Glu921Lys)
c.4114G>A (p.Glu1372Lys)
c.2489G>A
c.4210G>A (p.Glu1404Lys)
c.2568G>A
n.697G>A
c.3627G>A
c.2841G>A
c.2876G>A
c.2858G>A
c.2692G>A (p.Glu898Lys)
c.753G>A
c.2115G>A (n.2115G>A)
c.2547G>A
c.2052G>A (n.2052G>A)
c.2504G>A
n.707G>A
c.2458G>A (p.Glu820Lys)
c.4306G>A (p.Glu1436Lys)
n.518G>A
n.2642G>A
n.2177G>A
c.283G>A (p.Glu95Lys)
n.2027G>A
c.4213G>A (p.Glu1405Lys)
n.4594G>A
 ClinVar dbSNP
19g.11041340G>CCA404072837SMARCA4c.4300G>C (p.Glu1434Gln)
c.4204G>C (p.Glu1402Gln)
c.4105G>C (p.Glu1369Gln)
c.371G>C
c.331G>C (p.Glu111Gln)
c.145G>C (p.Glu49Gln)
n.2445G>C
c.2698G>C (p.Glu900Gln)
c.1661G>C
c.4201G>C (p.Glu1401Gln)
c.2761G>C (p.Glu921Gln)
c.4114G>C (p.Glu1372Gln)
c.2489G>C
c.4210G>C (p.Glu1404Gln)
c.2568G>C
n.697G>C
c.3627G>C
c.2841G>C
c.2876G>C
c.2858G>C
c.2692G>C (p.Glu898Gln)
c.753G>C
c.2115G>C (n.2115G>C)
c.2547G>C
c.2052G>C (n.2052G>C)
c.2504G>C
n.707G>C
c.2458G>C (p.Glu820Gln)
c.4306G>C (p.Glu1436Gln)
n.518G>C
n.2642G>C
n.2177G>C
c.283G>C (p.Glu95Gln)
n.2027G>C
c.4213G>C (p.Glu1405Gln)
n.4594G>C
 dbSNP
19g.11041340G>TCA404072838SMARCA4c.4300G>T (p.Glu1434Ter)
c.4204G>T (p.Glu1402Ter)
c.4105G>T (p.Glu1369Ter)
c.371G>T
c.331G>T (p.Glu111Ter)
c.145G>T (p.Glu49Ter)
n.2445G>T
c.2698G>T (p.Glu900Ter)
c.1661G>T
c.4201G>T (p.Glu1401Ter)
c.2761G>T (p.Glu921Ter)
c.4114G>T (p.Glu1372Ter)
c.2489G>T
c.4210G>T (p.Glu1404Ter)
c.2568G>T
n.697G>T
c.3627G>T
c.2841G>T
c.2876G>T
c.2858G>T
c.2692G>T (p.Glu898Ter)
c.753G>T
c.2115G>T (n.2115G>T)
c.2547G>T
c.2052G>T (n.2052G>T)
c.2504G>T
n.707G>T
c.2458G>T (p.Glu820Ter)
c.4306G>T (p.Glu1436Ter)
n.518G>T
n.2642G>T
n.2177G>T
c.283G>T (p.Glu95Ter)
n.2027G>T
c.4213G>T (p.Glu1405Ter)
n.4594G>T
19g.11041341A>CCA404072840SMARCA4c.4301A>C (p.Glu1434Ala)
c.4205A>C (p.Glu1402Ala)
c.4106A>C (p.Glu1369Ala)
c.372A>C
c.332A>C (p.Glu111Ala)
c.146A>C (p.Glu49Ala)
n.2446A>C
c.2699A>C (p.Glu900Ala)
c.1662A>C
c.4202A>C (p.Glu1401Ala)
c.2762A>C (p.Glu921Ala)
c.4115A>C (p.Glu1372Ala)
c.2490A>C
c.4211A>C (p.Glu1404Ala)
c.2569A>C
n.698A>C
c.3628A>C
c.2842A>C
c.2877A>C
c.2859A>C
c.2693A>C (p.Glu898Ala)
c.754A>C
c.2116A>C (n.2116A>C)
c.2548A>C
c.2053A>C (n.2053A>C)
c.2505A>C
n.708A>C
c.2459A>C (p.Glu820Ala)
c.4307A>C (p.Glu1436Ala)
n.519A>C
n.2643A>C
n.2178A>C
c.284A>C (p.Glu95Ala)
n.2028A>C
c.4214A>C (p.Glu1405Ala)
n.4595A>C
19g.11041341A>GCA404072842SMARCA4c.4301A>G (p.Glu1434Gly)
c.4205A>G (p.Glu1402Gly)
c.4106A>G (p.Glu1369Gly)
c.372A>G
c.332A>G (p.Glu111Gly)
c.146A>G (p.Glu49Gly)
n.2446A>G
c.2699A>G (p.Glu900Gly)
c.1662A>G
c.4202A>G (p.Glu1401Gly)
c.2762A>G (p.Glu921Gly)
c.4115A>G (p.Glu1372Gly)
c.2490A>G
c.4211A>G (p.Glu1404Gly)
c.2569A>G
n.698A>G
c.3628A>G
c.2842A>G
c.2877A>G
c.2859A>G
c.2693A>G (p.Glu898Gly)
c.754A>G
c.2116A>G (n.2116A>G)
c.2548A>G
c.2053A>G (n.2053A>G)
c.2505A>G
n.708A>G
c.2459A>G (p.Glu820Gly)
c.4307A>G (p.Glu1436Gly)
n.519A>G
n.2643A>G
n.2178A>G
c.284A>G (p.Glu95Gly)
n.2028A>G
c.4214A>G (p.Glu1405Gly)
n.4595A>G
19g.11041341A>TCA404072844SMARCA4c.4301A>T (p.Glu1434Val)
c.4205A>T (p.Glu1402Val)
c.4106A>T (p.Glu1369Val)
c.372A>T
c.332A>T (p.Glu111Val)
c.146A>T (p.Glu49Val)
n.2446A>T
c.2699A>T (p.Glu900Val)
c.1662A>T
c.4202A>T (p.Glu1401Val)
c.2762A>T (p.Glu921Val)
c.4115A>T (p.Glu1372Val)
c.2490A>T
c.4211A>T (p.Glu1404Val)
c.2569A>T
n.698A>T
c.3628A>T
c.2842A>T
c.2877A>T
c.2859A>T
c.2693A>T (p.Glu898Val)
c.754A>T
c.2116A>T (n.2116A>T)
c.2548A>T
c.2053A>T (n.2053A>T)
c.2505A>T
n.708A>T
c.2459A>T (p.Glu820Val)
c.4307A>T (p.Glu1436Val)
n.519A>T
n.2643A>T
n.2178A>T
c.284A>T (p.Glu95Val)
n.2028A>T
c.4214A>T (p.Glu1405Val)
n.4595A>T
19g.11041342G>ACA505743793SMARCA4c.4302G>A (p.Glu1434=)
c.4206G>A (p.Glu1402=)
c.4107G>A (p.Glu1369=)
c.373G>A
c.333G>A (p.Glu111=)
c.147G>A (p.Glu49=)
n.2447G>A
c.2700G>A (p.Glu900=)
c.1663G>A
c.4203G>A (p.Glu1401=)
c.2763G>A (p.Glu921=)
c.4116G>A (p.Glu1372=)
c.2491G>A
c.4212G>A (p.Glu1404=)
c.2570G>A
n.699G>A
c.3629G>A
c.2843G>A
c.2878G>A
c.2860G>A
c.2694G>A (p.Glu898=)
c.755G>A
c.2117G>A (n.2117G>A)
c.2549G>A
c.2054G>A (n.2054G>A)
c.2506G>A
n.709G>A
c.2460G>A (p.Glu820=)
c.4308G>A (p.Glu1436=)
n.520G>A
n.2644G>A
n.2179G>A
c.285G>A (p.Glu95=)
n.2029G>A
c.4215G>A (p.Glu1405=)
n.4596G>A
 ClinVar dbSNP gnomAD v4
19g.11041342G>CCA404072846SMARCA4c.4302G>C (p.Glu1434Asp)
c.4206G>C (p.Glu1402Asp)
c.4107G>C (p.Glu1369Asp)
c.373G>C
c.333G>C (p.Glu111Asp)
c.147G>C (p.Glu49Asp)
n.2447G>C
c.2700G>C (p.Glu900Asp)
c.1663G>C
c.4203G>C (p.Glu1401Asp)
c.2763G>C (p.Glu921Asp)
c.4116G>C (p.Glu1372Asp)
c.2491G>C
c.4212G>C (p.Glu1404Asp)
c.2570G>C
n.699G>C
c.3629G>C
c.2843G>C
c.2878G>C
c.2860G>C
c.2694G>C (p.Glu898Asp)
c.755G>C
c.2117G>C (n.2117G>C)
c.2549G>C
c.2054G>C (n.2054G>C)
c.2506G>C
n.709G>C
c.2460G>C (p.Glu820Asp)
c.4308G>C (p.Glu1436Asp)
n.520G>C
n.2644G>C
n.2179G>C
c.285G>C (p.Glu95Asp)
n.2029G>C
c.4215G>C (p.Glu1405Asp)
n.4596G>C
 dbSNP
19g.11041342G=CA2322735086SMARCA4c.4302G= (p.Glu1434=)
c.4206G= (p.Glu1402=)
c.4107G= (p.Glu1369=)
c.373G=
c.333G= (p.Glu111=)
c.147G= (p.Glu49=)
n.2447G=
c.2700G= (p.Glu900=)
c.1663G=
c.4203G= (p.Glu1401=)
c.2763G= (p.Glu921=)
c.4116G= (p.Glu1372=)
c.2491G=
c.4212G= (p.Glu1404=)
c.2570G=
n.699G=
c.3629G=
c.2843G=
c.2878G=
c.2860G=
c.2694G= (p.Glu898=)
c.755G=
c.2117G= (n.2117G=)
c.2549G=
c.2054G= (n.2054G=)
c.2506G=
n.709G=
c.2460G= (p.Glu820=)
c.4308G= (p.Glu1436=)
n.520G=
n.2644G=
n.2179G=
c.285G= (p.Glu95=)
n.2029G=
c.4215G= (p.Glu1405=)
n.4596G=
19g.11041342G>TCA404072857SMARCA4c.4302G>T (p.Glu1434Asp)
c.4206G>T (p.Glu1402Asp)
c.4107G>T (p.Glu1369Asp)
c.373G>T
c.333G>T (p.Glu111Asp)
c.147G>T (p.Glu49Asp)
n.2447G>T
c.2700G>T (p.Glu900Asp)
c.1663G>T
c.4203G>T (p.Glu1401Asp)
c.2763G>T (p.Glu921Asp)
c.4116G>T (p.Glu1372Asp)
c.2491G>T
c.4212G>T (p.Glu1404Asp)
c.2570G>T
n.699G>T
c.3629G>T
c.2843G>T
c.2878G>T
c.2860G>T
c.2694G>T (p.Glu898Asp)
c.755G>T
c.2117G>T (n.2117G>T)
c.2549G>T
c.2054G>T (n.2054G>T)
c.2506G>T
n.709G>T
c.2460G>T (p.Glu820Asp)
c.4308G>T (p.Glu1436Asp)
n.520G>T
n.2644G>T
n.2179G>T
c.285G>T (p.Glu95Asp)
n.2029G>T
c.4215G>T (p.Glu1405Asp)
n.4596G>T
19g.11041343G>ACA10583753SMARCA4c.4303G>A (p.Glu1435Lys)
c.4207G>A (p.Glu1403Lys)
c.4108G>A (p.Glu1370Lys)
c.374G>A
c.334G>A (p.Glu112Lys)
c.148G>A (p.Glu50Lys)
n.2448G>A
c.2701G>A (p.Glu901Lys)
c.1664G>A
c.4204G>A (p.Glu1402Lys)
c.2764G>A (p.Glu922Lys)
c.4117G>A (p.Glu1373Lys)
c.2492G>A
c.4213G>A (p.Glu1405Lys)
c.2571G>A
n.700G>A
c.3630G>A
c.2844G>A
c.2879G>A
c.2861G>A
c.2695G>A (p.Glu899Lys)
c.756G>A
c.2118G>A (n.2118G>A)
c.2550G>A
c.2055G>A (n.2055G>A)
c.2507G>A
n.710G>A
c.2461G>A (p.Glu821Lys)
c.4309G>A (p.Glu1437Lys)
n.521G>A
n.2645G>A
n.2180G>A
c.286G>A (p.Glu96Lys)
n.2030G>A
c.4216G>A (p.Glu1406Lys)
n.4597G>A
 ClinVar dbSNP
19g.11041343G>CCA404072871SMARCA4c.4303G>C (p.Glu1435Gln)
c.4207G>C (p.Glu1403Gln)
c.4108G>C (p.Glu1370Gln)
c.374G>C
c.334G>C (p.Glu112Gln)
c.148G>C (p.Glu50Gln)
n.2448G>C
c.2701G>C (p.Glu901Gln)
c.1664G>C
c.4204G>C (p.Glu1402Gln)
c.2764G>C (p.Glu922Gln)
c.4117G>C (p.Glu1373Gln)
c.2492G>C
c.4213G>C (p.Glu1405Gln)
c.2571G>C
n.700G>C
c.3630G>C
c.2844G>C
c.2879G>C
c.2861G>C
c.2695G>C (p.Glu899Gln)
c.756G>C
c.2118G>C (n.2118G>C)
c.2550G>C
c.2055G>C (n.2055G>C)
c.2507G>C
n.710G>C
c.2461G>C (p.Glu821Gln)
c.4309G>C (p.Glu1437Gln)
n.521G>C
n.2645G>C
n.2180G>C
c.286G>C (p.Glu96Gln)
n.2030G>C
c.4216G>C (p.Glu1406Gln)
n.4597G>C
 dbSNP
19g.11041343G=CA2322735088SMARCA4c.4303G= (p.Glu1435=)
c.4207G= (p.Glu1403=)
c.4108G= (p.Glu1370=)
c.374G=
c.334G= (p.Glu112=)
c.148G= (p.Glu50=)
n.2448G=
c.2701G= (p.Glu901=)
c.1664G=
c.4204G= (p.Glu1402=)
c.2764G= (p.Glu922=)
c.4117G= (p.Glu1373=)
c.2492G=
c.4213G= (p.Glu1405=)
c.2571G=
n.700G=
c.3630G=
c.2844G=
c.2879G=
c.2861G=
c.2695G= (p.Glu899=)
c.756G=
c.2118G= (n.2118G=)
c.2550G=
c.2055G= (n.2055G=)
c.2507G=
n.710G=
c.2461G= (p.Glu821=)
c.4309G= (p.Glu1437=)
n.521G=
n.2645G=
n.2180G=
c.286G= (p.Glu96=)
n.2030G=
c.4216G= (p.Glu1406=)
n.4597G=
19g.11041343G>TCA404072866SMARCA4c.4303G>T (p.Glu1435Ter)
c.4207G>T (p.Glu1403Ter)
c.4108G>T (p.Glu1370Ter)
c.374G>T
c.334G>T (p.Glu112Ter)
c.148G>T (p.Glu50Ter)
n.2448G>T
c.2701G>T (p.Glu901Ter)
c.1664G>T
c.4204G>T (p.Glu1402Ter)
c.2764G>T (p.Glu922Ter)
c.4117G>T (p.Glu1373Ter)
c.2492G>T
c.4213G>T (p.Glu1405Ter)
c.2571G>T
n.700G>T
c.3630G>T
c.2844G>T
c.2879G>T
c.2861G>T
c.2695G>T (p.Glu899Ter)
c.756G>T
c.2118G>T (n.2118G>T)
c.2550G>T
c.2055G>T (n.2055G>T)
c.2507G>T
n.710G>T
c.2461G>T (p.Glu821Ter)
c.4309G>T (p.Glu1437Ter)
n.521G>T
n.2645G>T
n.2180G>T
c.286G>T (p.Glu96Ter)
n.2030G>T
c.4216G>T (p.Glu1406Ter)
n.4597G>T
19g.11041344A>CCA404072873SMARCA4c.4304A>C (p.Glu1435Ala)
c.4208A>C (p.Glu1403Ala)
c.4109A>C (p.Glu1370Ala)
c.375A>C
c.335A>C (p.Glu112Ala)
c.149A>C (p.Glu50Ala)
n.2449A>C
c.2702A>C (p.Glu901Ala)
c.1665A>C
c.4205A>C (p.Glu1402Ala)
c.2765A>C (p.Glu922Ala)
c.4118A>C (p.Glu1373Ala)
c.2493A>C
c.4214A>C (p.Glu1405Ala)
c.2572A>C
n.701A>C
c.3631A>C
c.2845A>C
c.2880A>C
c.2862A>C
c.2696A>C (p.Glu899Ala)
c.757A>C
c.2119A>C (n.2119A>C)
c.2551A>C
c.2056A>C (n.2056A>C)
c.2508A>C
n.711A>C
c.2462A>C (p.Glu821Ala)
c.4310A>C (p.Glu1437Ala)
n.522A>C
n.2646A>C
n.2181A>C
c.287A>C (p.Glu96Ala)
n.2031A>C
c.4217A>C (p.Glu1406Ala)
n.4598A>C
 dbSNP
19g.11041344A>GCA404072877SMARCA4c.4304A>G (p.Glu1435Gly)
c.4208A>G (p.Glu1403Gly)
c.4109A>G (p.Glu1370Gly)
c.375A>G
c.335A>G (p.Glu112Gly)
c.149A>G (p.Glu50Gly)
n.2449A>G
c.2702A>G (p.Glu901Gly)
c.1665A>G
c.4205A>G (p.Glu1402Gly)
c.2765A>G (p.Glu922Gly)
c.4118A>G (p.Glu1373Gly)
c.2493A>G
c.4214A>G (p.Glu1405Gly)
c.2572A>G
n.701A>G
c.3631A>G
c.2845A>G
c.2880A>G
c.2862A>G
c.2696A>G (p.Glu899Gly)
c.757A>G
c.2119A>G (n.2119A>G)
c.2551A>G
c.2056A>G (n.2056A>G)
c.2508A>G
n.711A>G
c.2462A>G (p.Glu821Gly)
c.4310A>G (p.Glu1437Gly)
n.522A>G
n.2646A>G
n.2181A>G
c.287A>G (p.Glu96Gly)
n.2031A>G
c.4217A>G (p.Glu1406Gly)
n.4598A>G
 dbSNP
19g.11041344A>TCA404072880SMARCA4c.4304A>T (p.Glu1435Val)
c.4208A>T (p.Glu1403Val)
c.4109A>T (p.Glu1370Val)
c.375A>T
c.335A>T (p.Glu112Val)
c.149A>T (p.Glu50Val)
n.2449A>T
c.2702A>T (p.Glu901Val)
c.1665A>T
c.4205A>T (p.Glu1402Val)
c.2765A>T (p.Glu922Val)
c.4118A>T (p.Glu1373Val)
c.2493A>T
c.4214A>T (p.Glu1405Val)
c.2572A>T
n.701A>T
c.3631A>T
c.2845A>T
c.2880A>T
c.2862A>T
c.2696A>T (p.Glu899Val)
c.757A>T
c.2119A>T (n.2119A>T)
c.2551A>T
c.2056A>T (n.2056A>T)
c.2508A>T
n.711A>T
c.2462A>T (p.Glu821Val)
c.4310A>T (p.Glu1437Val)
n.522A>T
n.2646A>T
n.2181A>T
c.287A>T (p.Glu96Val)
n.2031A>T
c.4217A>T (p.Glu1406Val)
n.4598A>T
 dbSNP
19g.11041345G>ACA505743794SMARCA4c.4305G>A (p.Glu1435=)
c.4209G>A (p.Glu1403=)
c.4110G>A (p.Glu1370=)
c.376G>A
c.336G>A (p.Glu112=)
c.150G>A (p.Glu50=)
n.2450G>A
c.2703G>A (p.Glu901=)
c.1666G>A
c.4206G>A (p.Glu1402=)
c.2766G>A (p.Glu922=)
c.4119G>A (p.Glu1373=)
c.2494G>A
c.4215G>A (p.Glu1405=)
c.2573G>A
n.702G>A
c.3632G>A
c.2846G>A
c.2881G>A
c.2863G>A
c.2697G>A (p.Glu899=)
c.758G>A
c.2120G>A (n.2120G>A)
c.2552G>A
c.2057G>A (n.2057G>A)
c.2509G>A
n.712G>A
c.2463G>A (p.Glu821=)
c.4311G>A (p.Glu1437=)
n.523G>A
n.2647G>A
n.2182G>A
c.288G>A (p.Glu96=)
n.2032G>A
c.4218G>A (p.Glu1406=)
n.4599G>A
 dbSNP
19g.11041345G>CCA404072884SMARCA4c.4305G>C (p.Glu1435Asp)
c.4209G>C (p.Glu1403Asp)
c.4110G>C (p.Glu1370Asp)
c.376G>C
c.336G>C (p.Glu112Asp)
c.150G>C (p.Glu50Asp)
n.2450G>C
c.2703G>C (p.Glu901Asp)
c.1666G>C
c.4206G>C (p.Glu1402Asp)
c.2766G>C (p.Glu922Asp)
c.4119G>C (p.Glu1373Asp)
c.2494G>C
c.4215G>C (p.Glu1405Asp)
c.2573G>C
n.702G>C
c.3632G>C
c.2846G>C
c.2881G>C
c.2863G>C
c.2697G>C (p.Glu899Asp)
c.758G>C
c.2120G>C (n.2120G>C)
c.2552G>C
c.2057G>C (n.2057G>C)
c.2509G>C
n.712G>C
c.2463G>C (p.Glu821Asp)
c.4311G>C (p.Glu1437Asp)
n.523G>C
n.2647G>C
n.2182G>C
c.288G>C (p.Glu96Asp)
n.2032G>C
c.4218G>C (p.Glu1406Asp)
n.4599G>C
 ClinVar dbSNP
19g.11041345G=CA2322734712SMARCA4c.4305G= (p.Glu1435=)
c.4209G= (p.Glu1403=)
c.4110G= (p.Glu1370=)
c.376G=
c.336G= (p.Glu112=)
c.150G= (p.Glu50=)
n.2450G=
c.2703G= (p.Glu901=)
c.1666G=
c.4206G= (p.Glu1402=)
c.2766G= (p.Glu922=)
c.4119G= (p.Glu1373=)
c.2494G=
c.4215G= (p.Glu1405=)
c.2573G=
n.702G=
c.3632G=
c.2846G=
c.2881G=
c.2863G=
c.2697G= (p.Glu899=)
c.758G=
c.2120G= (n.2120G=)
c.2552G=
c.2057G= (n.2057G=)
c.2509G=
n.712G=
c.2463G= (p.Glu821=)
c.4311G= (p.Glu1437=)
n.523G=
n.2647G=
n.2182G=
c.288G= (p.Glu96=)
n.2032G=
c.4218G= (p.Glu1406=)
n.4599G=
19g.11041345G>TCA404072891SMARCA4c.4305G>T (p.Glu1435Asp)
c.4209G>T (p.Glu1403Asp)
c.4110G>T (p.Glu1370Asp)
c.376G>T
c.336G>T (p.Glu112Asp)
c.150G>T (p.Glu50Asp)
n.2450G>T
c.2703G>T (p.Glu901Asp)
c.1666G>T
c.4206G>T (p.Glu1402Asp)
c.2766G>T (p.Glu922Asp)
c.4119G>T (p.Glu1373Asp)
c.2494G>T
c.4215G>T (p.Glu1405Asp)
c.2573G>T
n.702G>T
c.3632G>T
c.2846G>T
c.2881G>T
c.2863G>T
c.2697G>T (p.Glu899Asp)
c.758G>T
c.2120G>T (n.2120G>T)
c.2552G>T
c.2057G>T (n.2057G>T)
c.2509G>T
n.712G>T
c.2463G>T (p.Glu821Asp)
c.4311G>T (p.Glu1437Asp)
n.523G>T
n.2647G>T
n.2182G>T
c.288G>T (p.Glu96Asp)
n.2032G>T
c.4218G>T (p.Glu1406Asp)
n.4599G>T
 dbSNP
19g.11041346G>ACA404072900SMARCA4c.4306G>A (p.Val1436Ile)
c.4210G>A (p.Val1404Ile)
c.4111G>A (p.Val1371Ile)
c.377G>A
c.337G>A (p.Val113Ile)
c.151G>A (p.Val51Ile)
n.2451G>A
c.2704G>A (p.Val902Ile)
c.1667G>A
c.4207G>A (p.Val1403Ile)
c.2767G>A (p.Val923Ile)
c.4120G>A (p.Val1374Ile)
c.2495G>A
c.4216G>A (p.Val1406Ile)
c.2574G>A
n.703G>A
c.3633G>A
c.2847G>A
c.2882G>A
c.2864G>A
c.2698G>A (p.Val900Ile)
c.759G>A
c.2121G>A (n.2121G>A)
c.2553G>A
c.2058G>A (n.2058G>A)
c.2510G>A
n.713G>A
c.2464G>A (p.Val822Ile)
c.4312G>A (p.Val1438Ile)
n.524G>A
n.2648G>A
n.2183G>A
c.289G>A (p.Val97Ile)
n.2033G>A
c.4219G>A (p.Val1407Ile)
n.4600G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11041346G>CCA404072901SMARCA4c.4306G>C (p.Val1436Leu)
c.4210G>C (p.Val1404Leu)
c.4111G>C (p.Val1371Leu)
c.377G>C
c.337G>C (p.Val113Leu)
c.151G>C (p.Val51Leu)
n.2451G>C
c.2704G>C (p.Val902Leu)
c.1667G>C
c.4207G>C (p.Val1403Leu)
c.2767G>C (p.Val923Leu)
c.4120G>C (p.Val1374Leu)
c.2495G>C
c.4216G>C (p.Val1406Leu)
c.2574G>C
n.703G>C
c.3633G>C
c.2847G>C
c.2882G>C
c.2864G>C
c.2698G>C (p.Val900Leu)
c.759G>C
c.2121G>C (n.2121G>C)
c.2553G>C
c.2058G>C (n.2058G>C)
c.2510G>C
n.713G>C
c.2464G>C (p.Val822Leu)
c.4312G>C (p.Val1438Leu)
n.524G>C
n.2648G>C
n.2183G>C
c.289G>C (p.Val97Leu)
n.2033G>C
c.4219G>C (p.Val1407Leu)
n.4600G>C
 dbSNP
19g.11041346G=CA2322734713SMARCA4c.4306G= (p.Val1436=)
c.4210G= (p.Val1404=)
c.4111G= (p.Val1371=)
c.377G=
c.337G= (p.Val113=)
c.151G= (p.Val51=)
n.2451G=
c.2704G= (p.Val902=)
c.1667G=
c.4207G= (p.Val1403=)
c.2767G= (p.Val923=)
c.4120G= (p.Val1374=)
c.2495G=
c.4216G= (p.Val1406=)
c.2574G=
n.703G=
c.3633G=
c.2847G=
c.2882G=
c.2864G=
c.2698G= (p.Val900=)
c.759G=
c.2121G= (n.2121G=)
c.2553G=
c.2058G= (n.2058G=)
c.2510G=
n.713G=
c.2464G= (p.Val822=)
c.4312G= (p.Val1438=)
n.524G=
n.2648G=
n.2183G=
c.289G= (p.Val97=)
n.2033G=
c.4219G= (p.Val1407=)
n.4600G=
19g.11041346G>TCA404072902SMARCA4c.4306G>T (p.Val1436Phe)
c.4210G>T (p.Val1404Phe)
c.4111G>T (p.Val1371Phe)
c.377G>T
c.337G>T (p.Val113Phe)
c.151G>T (p.Val51Phe)
n.2451G>T
c.2704G>T (p.Val902Phe)
c.1667G>T
c.4207G>T (p.Val1403Phe)
c.2767G>T (p.Val923Phe)
c.4120G>T (p.Val1374Phe)
c.2495G>T
c.4216G>T (p.Val1406Phe)
c.2574G>T
n.703G>T
c.3633G>T
c.2847G>T
c.2882G>T
c.2864G>T
c.2698G>T (p.Val900Phe)
c.759G>T
c.2121G>T (n.2121G>T)
c.2553G>T
c.2058G>T (n.2058G>T)
c.2510G>T
n.713G>T
c.2464G>T (p.Val822Phe)
c.4312G>T (p.Val1438Phe)
n.524G>T
n.2648G>T
n.2183G>T
c.289G>T (p.Val97Phe)
n.2033G>T
c.4219G>T (p.Val1407Phe)
n.4600G>T
 ClinVar dbSNP
19g.11041347T>ACA404072905SMARCA4c.4307T>A (p.Val1436Asp)
c.4211T>A (p.Val1404Asp)
c.4112T>A (p.Val1371Asp)
c.378T>A
c.338T>A (p.Val113Asp)
c.152T>A (p.Val51Asp)
n.2452T>A
c.2705T>A (p.Val902Asp)
c.1668T>A
c.4208T>A (p.Val1403Asp)
c.2768T>A (p.Val923Asp)
c.4121T>A (p.Val1374Asp)
c.2496T>A
c.4217T>A (p.Val1406Asp)
c.2575T>A
n.704T>A
c.3634T>A
c.2848T>A
c.2883T>A
c.2865T>A
c.2699T>A (p.Val900Asp)
c.760T>A
c.2122T>A (n.2122T>A)
c.2554T>A
c.2059T>A (n.2059T>A)
c.2511T>A
n.714T>A
c.2465T>A (p.Val822Asp)
c.4313T>A (p.Val1438Asp)
n.525T>A
n.2649T>A
n.2184T>A
c.290T>A (p.Val97Asp)
n.2034T>A
c.4220T>A (p.Val1407Asp)
n.4601T>A
 dbSNP
19g.11041347T>CCA404072907SMARCA4c.4307T>C (p.Val1436Ala)
c.4211T>C (p.Val1404Ala)
c.4112T>C (p.Val1371Ala)
c.378T>C
c.338T>C (p.Val113Ala)
c.152T>C (p.Val51Ala)
n.2452T>C
c.2705T>C (p.Val902Ala)
c.1668T>C
c.4208T>C (p.Val1403Ala)
c.2768T>C (p.Val923Ala)
c.4121T>C (p.Val1374Ala)
c.2496T>C
c.4217T>C (p.Val1406Ala)
c.2575T>C
n.704T>C
c.3634T>C
c.2848T>C
c.2883T>C
c.2865T>C
c.2699T>C (p.Val900Ala)
c.760T>C
c.2122T>C (n.2122T>C)
c.2554T>C
c.2059T>C (n.2059T>C)
c.2511T>C
n.714T>C
c.2465T>C (p.Val822Ala)
c.4313T>C (p.Val1438Ala)
n.525T>C
n.2649T>C
n.2184T>C
c.290T>C (p.Val97Ala)
n.2034T>C
c.4220T>C (p.Val1407Ala)
n.4601T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041347T>GCA404072919SMARCA4c.4307T>G (p.Val1436Gly)
c.4211T>G (p.Val1404Gly)
c.4112T>G (p.Val1371Gly)
c.378T>G
c.338T>G (p.Val113Gly)
c.152T>G (p.Val51Gly)
n.2452T>G
c.2705T>G (p.Val902Gly)
c.1668T>G
c.4208T>G (p.Val1403Gly)
c.2768T>G (p.Val923Gly)
c.4121T>G (p.Val1374Gly)
c.2496T>G
c.4217T>G (p.Val1406Gly)
c.2575T>G
n.704T>G
c.3634T>G
c.2848T>G
c.2883T>G
c.2865T>G
c.2699T>G (p.Val900Gly)
c.760T>G
c.2122T>G (n.2122T>G)
c.2554T>G
c.2059T>G (n.2059T>G)
c.2511T>G
n.714T>G
c.2465T>G (p.Val822Gly)
c.4313T>G (p.Val1438Gly)
n.525T>G
n.2649T>G
n.2184T>G
c.290T>G (p.Val97Gly)
n.2034T>G
c.4220T>G (p.Val1407Gly)
n.4601T>G
 dbSNP
19g.11041347T=CA2322734716SMARCA4c.4307T= (p.Val1436=)
c.4211T= (p.Val1404=)
c.4112T= (p.Val1371=)
c.378T=
c.338T= (p.Val113=)
c.152T= (p.Val51=)
n.2452T=
c.2705T= (p.Val902=)
c.1668T=
c.4208T= (p.Val1403=)
c.2768T= (p.Val923=)
c.4121T= (p.Val1374=)
c.2496T=
c.4217T= (p.Val1406=)
c.2575T=
n.704T=
c.3634T=
c.2848T=
c.2883T=
c.2865T=
c.2699T= (p.Val900=)
c.760T=
c.2122T= (n.2122T=)
c.2554T=
c.2059T= (n.2059T=)
c.2511T=
n.714T=
c.2465T= (p.Val822=)
c.4313T= (p.Val1438=)
n.525T=
n.2649T=
n.2184T=
c.290T= (p.Val97=)
n.2034T=
c.4220T= (p.Val1407=)
n.4601T=
19g.11041348C>ACA505743797SMARCA4c.4308C>A (p.Val1436=)
c.4212C>A (p.Val1404=)
c.4113C>A (p.Val1371=)
c.379C>A
c.339C>A (p.Val113=)
c.153C>A (p.Val51=)
n.2453C>A
c.2706C>A (p.Val902=)
c.1669C>A
c.4209C>A (p.Val1403=)
c.2769C>A (p.Val923=)
c.4122C>A (p.Val1374=)
c.2497C>A
c.4218C>A (p.Val1406=)
c.2576C>A
n.705C>A
c.3635C>A
c.2849C>A
c.2884C>A
c.2866C>A
c.2700C>A (p.Val900=)
c.761C>A
c.2123C>A (n.2123C>A)
c.2555C>A
c.2060C>A (n.2060C>A)
c.2512C>A
n.715C>A
c.2466C>A (p.Val822=)
c.4314C>A (p.Val1438=)
n.526C>A
n.2650C>A
n.2185C>A
c.291C>A (p.Val97=)
n.2035C>A
c.4221C>A (p.Val1407=)
n.4602C>A
 dbSNP
19g.11041348C=CA2322734717SMARCA4c.4308C= (p.Val1436=)
c.4212C= (p.Val1404=)
c.4113C= (p.Val1371=)
c.379C=
c.339C= (p.Val113=)
c.153C= (p.Val51=)
n.2453C=
c.2706C= (p.Val902=)
c.1669C=
c.4209C= (p.Val1403=)
c.2769C= (p.Val923=)
c.4122C= (p.Val1374=)
c.2497C=
c.4218C= (p.Val1406=)
c.2576C=
n.705C=
c.3635C=
c.2849C=
c.2884C=
c.2866C=
c.2700C= (p.Val900=)
c.761C=
c.2123C= (n.2123C=)
c.2555C=
c.2060C= (n.2060C=)
c.2512C=
n.715C=
c.2466C= (p.Val822=)
c.4314C= (p.Val1438=)
n.526C=
n.2650C=
n.2185C=
c.291C= (p.Val97=)
n.2035C=
c.4221C= (p.Val1407=)
n.4602C=
19g.11041348C>GCA505743799SMARCA4c.4308C>G (p.Val1436=)
c.4212C>G (p.Val1404=)
c.4113C>G (p.Val1371=)
c.379C>G
c.339C>G (p.Val113=)
c.153C>G (p.Val51=)
n.2453C>G
c.2706C>G (p.Val902=)
c.1669C>G
c.4209C>G (p.Val1403=)
c.2769C>G (p.Val923=)
c.4122C>G (p.Val1374=)
c.2497C>G
c.4218C>G (p.Val1406=)
c.2576C>G
n.705C>G
c.3635C>G
c.2849C>G
c.2884C>G
c.2866C>G
c.2700C>G (p.Val900=)
c.761C>G
c.2123C>G (n.2123C>G)
c.2555C>G
c.2060C>G (n.2060C>G)
c.2512C>G
n.715C>G
c.2466C>G (p.Val822=)
c.4314C>G (p.Val1438=)
n.526C>G
n.2650C>G
n.2185C>G
c.291C>G (p.Val97=)
n.2035C>G
c.4221C>G (p.Val1407=)
n.4602C>G
 dbSNP
19g.11041348C>TCA505743798SMARCA4c.4308C>T (p.Val1436=)
c.4212C>T (p.Val1404=)
c.4113C>T (p.Val1371=)
c.379C>T
c.339C>T (p.Val113=)
c.153C>T (p.Val51=)
n.2453C>T
c.2706C>T (p.Val902=)
c.1669C>T
c.4209C>T (p.Val1403=)
c.2769C>T (p.Val923=)
c.4122C>T (p.Val1374=)
c.2497C>T
c.4218C>T (p.Val1406=)
c.2576C>T
n.705C>T
c.3635C>T
c.2849C>T
c.2884C>T
c.2866C>T
c.2700C>T (p.Val900=)
c.761C>T
c.2123C>T (n.2123C>T)
c.2555C>T
c.2060C>T (n.2060C>T)
c.2512C>T
n.715C>T
c.2466C>T (p.Val822=)
c.4314C>T (p.Val1438=)
n.526C>T
n.2650C>T
n.2185C>T
c.291C>T (p.Val97=)
n.2035C>T
c.4221C>T (p.Val1407=)
n.4602C>T
 ClinVar dbSNP
19g.11041349C>ACA505743800SMARCA4c.4309C>A (p.Arg1437=)
c.4213C>A (p.Arg1405=)
c.4114C>A (p.Arg1372=)
c.380C>A
c.340C>A (p.Arg114=)
c.154C>A (p.Arg52=)
n.2454C>A
c.2707C>A (p.Arg903=)
c.1670C>A
c.4210C>A (p.Arg1404=)
c.2770C>A (p.Arg924=)
c.4123C>A (p.Arg1375=)
c.2498C>A
c.4219C>A (p.Arg1407=)
c.2577C>A
n.706C>A
c.3636C>A
c.2850C>A
c.2885C>A
c.2867C>A
c.2701C>A (p.Arg901=)
c.762C>A
c.2124C>A (n.2124C>A)
c.2556C>A
c.2061C>A (n.2061C>A)
c.2513C>A
n.716C>A
c.2467C>A (p.Arg823=)
c.4315C>A (p.Arg1439=)
n.527C>A
n.2651C>A
n.2186C>A
c.292C>A (p.Arg98=)
n.2036C>A
c.4222C>A (p.Arg1408=)
n.4603C>A
 dbSNP
19g.11041349C=CA2322734720SMARCA4c.4309C= (p.Arg1437=)
c.4213C= (p.Arg1405=)
c.4114C= (p.Arg1372=)
c.380C=
c.340C= (p.Arg114=)
c.154C= (p.Arg52=)
n.2454C=
c.2707C= (p.Arg903=)
c.1670C=
c.4210C= (p.Arg1404=)
c.2770C= (p.Arg924=)
c.4123C= (p.Arg1375=)
c.2498C=
c.4219C= (p.Arg1407=)
c.2577C=
n.706C=
c.3636C=
c.2850C=
c.2885C=
c.2867C=
c.2701C= (p.Arg901=)
c.762C=
c.2124C= (n.2124C=)
c.2556C=
c.2061C= (n.2061C=)
c.2513C=
n.716C=
c.2467C= (p.Arg823=)
c.4315C= (p.Arg1439=)
n.527C=
n.2651C=
n.2186C=
c.292C= (p.Arg98=)
n.2036C=
c.4222C= (p.Arg1408=)
n.4603C=
19g.11041349C>GCA404072925SMARCA4c.4309C>G (p.Arg1437Gly)
c.4213C>G (p.Arg1405Gly)
c.4114C>G (p.Arg1372Gly)
c.380C>G
c.340C>G (p.Arg114Gly)
c.154C>G (p.Arg52Gly)
n.2454C>G
c.2707C>G (p.Arg903Gly)
c.1670C>G
c.4210C>G (p.Arg1404Gly)
c.2770C>G (p.Arg924Gly)
c.4123C>G (p.Arg1375Gly)
c.2498C>G
c.4219C>G (p.Arg1407Gly)
c.2577C>G
n.706C>G
c.3636C>G
c.2850C>G
c.2885C>G
c.2867C>G
c.2701C>G (p.Arg901Gly)
c.762C>G
c.2124C>G (n.2124C>G)
c.2556C>G
c.2061C>G (n.2061C>G)
c.2513C>G
n.716C>G
c.2467C>G (p.Arg823Gly)
c.4315C>G (p.Arg1439Gly)
n.527C>G
n.2651C>G
n.2186C>G
c.292C>G (p.Arg98Gly)
n.2036C>G
c.4222C>G (p.Arg1408Gly)
n.4603C>G
 dbSNP
19g.11041349C>TCA16043066SMARCA4c.4309C>T (p.Arg1437Trp)
c.4213C>T (p.Arg1405Trp)
c.4114C>T (p.Arg1372Trp)
c.380C>T
c.340C>T (p.Arg114Trp)
c.154C>T (p.Arg52Trp)
n.2454C>T
c.2707C>T (p.Arg903Trp)
c.1670C>T
c.4210C>T (p.Arg1404Trp)
c.2770C>T (p.Arg924Trp)
c.4123C>T (p.Arg1375Trp)
c.2498C>T
c.4219C>T (p.Arg1407Trp)
c.2577C>T
n.706C>T
c.3636C>T
c.2850C>T
c.2885C>T
c.2867C>T
c.2701C>T (p.Arg901Trp)
c.762C>T
c.2124C>T (n.2124C>T)
c.2556C>T
c.2061C>T (n.2061C>T)
c.2513C>T
n.716C>T
c.2467C>T (p.Arg823Trp)
c.4315C>T (p.Arg1439Trp)
n.527C>T
n.2651C>T
n.2186C>T
c.292C>T (p.Arg98Trp)
n.2036C>T
c.4222C>T (p.Arg1408Trp)
n.4603C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041350G>ACA305294309SMARCA4c.4310G>A (p.Arg1437Gln)
c.4214G>A (p.Arg1405Gln)
c.4115G>A (p.Arg1372Gln)
c.381G>A
c.341G>A (p.Arg114Gln)
c.155G>A (p.Arg52Gln)
n.2455G>A
c.2708G>A (p.Arg903Gln)
c.1671G>A
c.4211G>A (p.Arg1404Gln)
c.2771G>A (p.Arg924Gln)
c.4124G>A (p.Arg1375Gln)
c.2499G>A
c.4220G>A (p.Arg1407Gln)
c.2578G>A
n.707G>A
c.3637G>A
c.2851G>A
c.2886G>A
c.2868G>A
c.2702G>A (p.Arg901Gln)
c.763G>A
c.2125G>A (n.2125G>A)
c.2557G>A
c.2062G>A (n.2062G>A)
c.2514G>A
n.717G>A
c.2468G>A (p.Arg823Gln)
c.4316G>A (p.Arg1439Gln)
n.528G>A
n.2652G>A
n.2187G>A
c.293G>A (p.Arg98Gln)
n.2037G>A
c.4223G>A (p.Arg1408Gln)
n.4604G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041350G>CCA404072929SMARCA4c.4310G>C (p.Arg1437Pro)
c.4214G>C (p.Arg1405Pro)
c.4115G>C (p.Arg1372Pro)
c.381G>C
c.341G>C (p.Arg114Pro)
c.155G>C (p.Arg52Pro)
n.2455G>C
c.2708G>C (p.Arg903Pro)
c.1671G>C
c.4211G>C (p.Arg1404Pro)
c.2771G>C (p.Arg924Pro)
c.4124G>C (p.Arg1375Pro)
c.2499G>C
c.4220G>C (p.Arg1407Pro)
c.2578G>C
n.707G>C
c.3637G>C
c.2851G>C
c.2886G>C
c.2868G>C
c.2702G>C (p.Arg901Pro)
c.763G>C
c.2125G>C (n.2125G>C)
c.2557G>C
c.2062G>C (n.2062G>C)
c.2514G>C
n.717G>C
c.2468G>C (p.Arg823Pro)
c.4316G>C (p.Arg1439Pro)
n.528G>C
n.2652G>C
n.2187G>C
c.293G>C (p.Arg98Pro)
n.2037G>C
c.4223G>C (p.Arg1408Pro)
n.4604G>C
 dbSNP
19g.11041350G=CA2322734730SMARCA4c.4310G= (p.Arg1437=)
c.4214G= (p.Arg1405=)
c.4115G= (p.Arg1372=)
c.381G=
c.341G= (p.Arg114=)
c.155G= (p.Arg52=)
n.2455G=
c.2708G= (p.Arg903=)
c.1671G=
c.4211G= (p.Arg1404=)
c.2771G= (p.Arg924=)
c.4124G= (p.Arg1375=)
c.2499G=
c.4220G= (p.Arg1407=)
c.2578G=
n.707G=
c.3637G=
c.2851G=
c.2886G=
c.2868G=
c.2702G= (p.Arg901=)
c.763G=
c.2125G= (n.2125G=)
c.2557G=
c.2062G= (n.2062G=)
c.2514G=
n.717G=
c.2468G= (p.Arg823=)
c.4316G= (p.Arg1439=)
n.528G=
n.2652G=
n.2187G=
c.293G= (p.Arg98=)
n.2037G=
c.4223G= (p.Arg1408=)
n.4604G=
19g.11041350G>TCA404072931SMARCA4c.4310G>T (p.Arg1437Leu)
c.4214G>T (p.Arg1405Leu)
c.4115G>T (p.Arg1372Leu)
c.381G>T
c.341G>T (p.Arg114Leu)
c.155G>T (p.Arg52Leu)
n.2455G>T
c.2708G>T (p.Arg903Leu)
c.1671G>T
c.4211G>T (p.Arg1404Leu)
c.2771G>T (p.Arg924Leu)
c.4124G>T (p.Arg1375Leu)
c.2499G>T
c.4220G>T (p.Arg1407Leu)
c.2578G>T
n.707G>T
c.3637G>T
c.2851G>T
c.2886G>T
c.2868G>T
c.2702G>T (p.Arg901Leu)
c.763G>T
c.2125G>T (n.2125G>T)
c.2557G>T
c.2062G>T (n.2062G>T)
c.2514G>T
n.717G>T
c.2468G>T (p.Arg823Leu)
c.4316G>T (p.Arg1439Leu)
n.528G>T
n.2652G>T
n.2187G>T
c.293G>T (p.Arg98Leu)
n.2037G>T
c.4223G>T (p.Arg1408Leu)
n.4604G>T
 dbSNP
19g.11041351G>ACA505743802SMARCA4c.4311G>A (p.Arg1437=)
c.4215G>A (p.Arg1405=)
c.4116G>A (p.Arg1372=)
c.382G>A
c.342G>A (p.Arg114=)
c.156G>A (p.Arg52=)
n.2456G>A
c.2709G>A (p.Arg903=)
c.1672G>A
c.4212G>A (p.Arg1404=)
c.2772G>A (p.Arg924=)
c.4125G>A (p.Arg1375=)
c.2500G>A
c.4221G>A (p.Arg1407=)
c.2579G>A
n.708G>A
c.3638G>A
c.2852G>A
c.2887G>A
c.2869G>A
c.2703G>A (p.Arg901=)
c.764G>A
c.2126G>A (n.2126G>A)
c.2558G>A
c.2063G>A (n.2063G>A)
c.2515G>A
n.718G>A
c.2469G>A (p.Arg823=)
c.4317G>A (p.Arg1439=)
n.529G>A
n.2653G>A
n.2188G>A
c.294G>A (p.Arg98=)
n.2038G>A
c.4224G>A (p.Arg1408=)
n.4605G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11041351G>CCA505743803SMARCA4c.4311G>C (p.Arg1437=)
c.4215G>C (p.Arg1405=)
c.4116G>C (p.Arg1372=)
c.382G>C
c.342G>C (p.Arg114=)
c.156G>C (p.Arg52=)
n.2456G>C
c.2709G>C (p.Arg903=)
c.1672G>C
c.4212G>C (p.Arg1404=)
c.2772G>C (p.Arg924=)
c.4125G>C (p.Arg1375=)
c.2500G>C
c.4221G>C (p.Arg1407=)
c.2579G>C
n.708G>C
c.3638G>C
c.2852G>C
c.2887G>C
c.2869G>C
c.2703G>C (p.Arg901=)
c.764G>C
c.2126G>C (n.2126G>C)
c.2558G>C
c.2063G>C (n.2063G>C)
c.2515G>C
n.718G>C
c.2469G>C (p.Arg823=)
c.4317G>C (p.Arg1439=)
n.529G>C
n.2653G>C
n.2188G>C
c.294G>C (p.Arg98=)
n.2038G>C
c.4224G>C (p.Arg1408=)
n.4605G>C
 dbSNP
19g.11041351G=CA2322734734SMARCA4c.4311G= (p.Arg1437=)
c.4215G= (p.Arg1405=)
c.4116G= (p.Arg1372=)
c.382G=
c.342G= (p.Arg114=)
c.156G= (p.Arg52=)
n.2456G=
c.2709G= (p.Arg903=)
c.1672G=
c.4212G= (p.Arg1404=)
c.2772G= (p.Arg924=)
c.4125G= (p.Arg1375=)
c.2500G=
c.4221G= (p.Arg1407=)
c.2579G=
n.708G=
c.3638G=
c.2852G=
c.2887G=
c.2869G=
c.2703G= (p.Arg901=)
c.764G=
c.2126G= (n.2126G=)
c.2558G=
c.2063G= (n.2063G=)
c.2515G=
n.718G=
c.2469G= (p.Arg823=)
c.4317G= (p.Arg1439=)
n.529G=
n.2653G=
n.2188G=
c.294G= (p.Arg98=)
n.2038G=
c.4224G= (p.Arg1408=)
n.4605G=
19g.11041351G>TCA505743804SMARCA4c.4311G>T (p.Arg1437=)
c.4215G>T (p.Arg1405=)
c.4116G>T (p.Arg1372=)
c.382G>T
c.342G>T (p.Arg114=)
c.156G>T (p.Arg52=)
n.2456G>T
c.2709G>T (p.Arg903=)
c.1672G>T
c.4212G>T (p.Arg1404=)
c.2772G>T (p.Arg924=)
c.4125G>T (p.Arg1375=)
c.2500G>T
c.4221G>T (p.Arg1407=)
c.2579G>T
n.708G>T
c.3638G>T
c.2852G>T
c.2887G>T
c.2869G>T
c.2703G>T (p.Arg901=)
c.764G>T
c.2126G>T (n.2126G>T)
c.2558G>T
c.2063G>T (n.2063G>T)
c.2515G>T
n.718G>T
c.2469G>T (p.Arg823=)
c.4317G>T (p.Arg1439=)
n.529G>T
n.2653G>T
n.2188G>T
c.294G>T (p.Arg98=)
n.2038G>T
c.4224G>T (p.Arg1408=)
n.4605G>T
 dbSNP
19g.11041352C>ACA404072933SMARCA4c.4312C>A (p.Gln1438Lys)
c.4216C>A (p.Gln1406Lys)
c.4117C>A (p.Gln1373Lys)
c.383C>A
c.343C>A (p.Gln115Lys)
c.157C>A (p.Gln53Lys)
n.2457C>A
c.2710C>A (p.Gln904Lys)
c.1673C>A
c.4213C>A (p.Gln1405Lys)
c.2773C>A (p.Gln925Lys)
c.4126C>A (p.Gln1376Lys)
c.2501C>A
c.4222C>A (p.Gln1408Lys)
c.2580C>A
n.709C>A
c.3639C>A
c.2853C>A
c.2888C>A
c.2870C>A
c.2704C>A (p.Gln902Lys)
c.765C>A
c.2127C>A (n.2127C>A)
c.2559C>A
c.2064C>A (n.2064C>A)
c.2516C>A
n.719C>A
c.2470C>A (p.Gln824Lys)
c.4318C>A (p.Gln1440Lys)
n.530C>A
n.2654C>A
n.2189C>A
c.295C>A (p.Gln99Lys)
n.2039C>A
c.4225C>A (p.Gln1409Lys)
n.4606C>A
 dbSNP
19g.11041352C>GCA404072935SMARCA4c.4312C>G (p.Gln1438Glu)
c.4216C>G (p.Gln1406Glu)
c.4117C>G (p.Gln1373Glu)
c.383C>G
c.343C>G (p.Gln115Glu)
c.157C>G (p.Gln53Glu)
n.2457C>G
c.2710C>G (p.Gln904Glu)
c.1673C>G
c.4213C>G (p.Gln1405Glu)
c.2773C>G (p.Gln925Glu)
c.4126C>G (p.Gln1376Glu)
c.2501C>G
c.4222C>G (p.Gln1408Glu)
c.2580C>G
n.709C>G
c.3639C>G
c.2853C>G
c.2888C>G
c.2870C>G
c.2704C>G (p.Gln902Glu)
c.765C>G
c.2127C>G (n.2127C>G)
c.2559C>G
c.2064C>G (n.2064C>G)
c.2516C>G
n.719C>G
c.2470C>G (p.Gln824Glu)
c.4318C>G (p.Gln1440Glu)
n.530C>G
n.2654C>G
n.2189C>G
c.295C>G (p.Gln99Glu)
n.2039C>G
c.4225C>G (p.Gln1409Glu)
n.4606C>G
 dbSNP
19g.11041352C>TCA404072938SMARCA4c.4312C>T (p.Gln1438Ter)
c.4216C>T (p.Gln1406Ter)
c.4117C>T (p.Gln1373Ter)
c.383C>T
c.343C>T (p.Gln115Ter)
c.157C>T (p.Gln53Ter)
n.2457C>T
c.2710C>T (p.Gln904Ter)
c.1673C>T
c.4213C>T (p.Gln1405Ter)
c.2773C>T (p.Gln925Ter)
c.4126C>T (p.Gln1376Ter)
c.2501C>T
c.4222C>T (p.Gln1408Ter)
c.2580C>T
n.709C>T
c.3639C>T
c.2853C>T
c.2888C>T
c.2870C>T
c.2704C>T (p.Gln902Ter)
c.765C>T
c.2127C>T (n.2127C>T)
c.2559C>T
c.2064C>T (n.2064C>T)
c.2516C>T
n.719C>T
c.2470C>T (p.Gln824Ter)
c.4318C>T (p.Gln1440Ter)
n.530C>T
n.2654C>T
n.2189C>T
c.295C>T (p.Gln99Ter)
n.2039C>T
c.4225C>T (p.Gln1409Ter)
n.4606C>T
 dbSNP
19g.11041353A=CA2322734740SMARCA4c.4313A= (p.Gln1438=)
c.4217A= (p.Gln1406=)
c.4118A= (p.Gln1373=)
c.384A=
c.344A= (p.Gln115=)
c.158A= (p.Gln53=)
n.2458A=
c.2711A= (p.Gln904=)
c.1674A=
c.4214A= (p.Gln1405=)
c.2774A= (p.Gln925=)
c.4127A= (p.Gln1376=)
c.2502A=
c.4223A= (p.Gln1408=)
c.2581A=
n.710A=
c.3640A=
c.2854A=
c.2889A=
c.2871A=
c.2705A= (p.Gln902=)
c.766A=
c.2128A= (n.2128A=)
c.2560A=
c.2065A= (n.2065A=)
c.2517A=
n.720A=
c.2471A= (p.Gln824=)
c.4319A= (p.Gln1440=)
n.531A=
n.2655A=
n.2190A=
c.296A= (p.Gln99=)
n.2040A=
c.4226A= (p.Gln1409=)
n.4607A=
19g.11041353A>CCA404072939SMARCA4c.4313A>C (p.Gln1438Pro)
c.4217A>C (p.Gln1406Pro)
c.4118A>C (p.Gln1373Pro)
c.384A>C
c.344A>C (p.Gln115Pro)
c.158A>C (p.Gln53Pro)
n.2458A>C
c.2711A>C (p.Gln904Pro)
c.1674A>C
c.4214A>C (p.Gln1405Pro)
c.2774A>C (p.Gln925Pro)
c.4127A>C (p.Gln1376Pro)
c.2502A>C
c.4223A>C (p.Gln1408Pro)
c.2581A>C
n.710A>C
c.3640A>C
c.2854A>C
c.2889A>C
c.2871A>C
c.2705A>C (p.Gln902Pro)
c.766A>C
c.2128A>C (n.2128A>C)
c.2560A>C
c.2065A>C (n.2065A>C)
c.2517A>C
n.720A>C
c.2471A>C (p.Gln824Pro)
c.4319A>C (p.Gln1440Pro)
n.531A>C
n.2655A>C
n.2190A>C
c.296A>C (p.Gln99Pro)
n.2040A>C
c.4226A>C (p.Gln1409Pro)
n.4607A>C
19g.11041353A>GCA404072940SMARCA4c.4313A>G (p.Gln1438Arg)
c.4217A>G (p.Gln1406Arg)
c.4118A>G (p.Gln1373Arg)
c.384A>G
c.344A>G (p.Gln115Arg)
c.158A>G (p.Gln53Arg)
n.2458A>G
c.2711A>G (p.Gln904Arg)
c.1674A>G
c.4214A>G (p.Gln1405Arg)
c.2774A>G (p.Gln925Arg)
c.4127A>G (p.Gln1376Arg)
c.2502A>G
c.4223A>G (p.Gln1408Arg)
c.2581A>G
n.710A>G
c.3640A>G
c.2854A>G
c.2889A>G
c.2871A>G
c.2705A>G (p.Gln902Arg)
c.766A>G
c.2128A>G (n.2128A>G)
c.2560A>G
c.2065A>G (n.2065A>G)
c.2517A>G
n.720A>G
c.2471A>G (p.Gln824Arg)
c.4319A>G (p.Gln1440Arg)
n.531A>G
n.2655A>G
n.2190A>G
c.296A>G (p.Gln99Arg)
n.2040A>G
c.4226A>G (p.Gln1409Arg)
n.4607A>G
 ClinVar dbSNP gnomAD v4
19g.11041353A>TCA404072942SMARCA4c.4313A>T (p.Gln1438Leu)
c.4217A>T (p.Gln1406Leu)
c.4118A>T (p.Gln1373Leu)
c.384A>T
c.344A>T (p.Gln115Leu)
c.158A>T (p.Gln53Leu)
n.2458A>T
c.2711A>T (p.Gln904Leu)
c.1674A>T
c.4214A>T (p.Gln1405Leu)
c.2774A>T (p.Gln925Leu)
c.4127A>T (p.Gln1376Leu)
c.2502A>T
c.4223A>T (p.Gln1408Leu)
c.2581A>T
n.710A>T
c.3640A>T
c.2854A>T
c.2889A>T
c.2871A>T
c.2705A>T (p.Gln902Leu)
c.766A>T
c.2128A>T (n.2128A>T)
c.2560A>T
c.2065A>T (n.2065A>T)
c.2517A>T
n.720A>T
c.2471A>T (p.Gln824Leu)
c.4319A>T (p.Gln1440Leu)
n.531A>T
n.2655A>T
n.2190A>T
c.296A>T (p.Gln99Leu)
n.2040A>T
c.4226A>T (p.Gln1409Leu)
n.4607A>T
 dbSNP
19g.11041354G>ACA9204676SMARCA4c.4314G>A (p.Gln1438=)
c.4218G>A (p.Gln1406=)
c.4119G>A (p.Gln1373=)
c.385G>A
c.345G>A (p.Gln115=)
c.159G>A (p.Gln53=)
n.2459G>A
c.2712G>A (p.Gln904=)
c.1675G>A
c.4215G>A (p.Gln1405=)
c.2775G>A (p.Gln925=)
c.4128G>A (p.Gln1376=)
c.2503G>A
c.4224G>A (p.Gln1408=)
c.2582G>A
n.711G>A
c.3641G>A
c.2855G>A
c.2890G>A
c.2872G>A
c.2706G>A (p.Gln902=)
c.767G>A
c.2129G>A (n.2129G>A)
c.2561G>A
c.2066G>A (n.2066G>A)
c.2518G>A
n.721G>A
c.2472G>A (p.Gln824=)
c.4320G>A (p.Gln1440=)
n.532G>A
n.2656G>A
n.2191G>A
c.297G>A (p.Gln99=)
n.2041G>A
c.4227G>A (p.Gln1409=)
n.4608G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11041354G>CCA404072948SMARCA4c.4314G>C (p.Gln1438His)
c.4218G>C (p.Gln1406His)
c.4119G>C (p.Gln1373His)
c.385G>C
c.345G>C (p.Gln115His)
c.159G>C (p.Gln53His)
n.2459G>C
c.2712G>C (p.Gln904His)
c.1675G>C
c.4215G>C (p.Gln1405His)
c.2775G>C (p.Gln925His)
c.4128G>C (p.Gln1376His)
c.2503G>C
c.4224G>C (p.Gln1408His)
c.2582G>C
n.711G>C
c.3641G>C
c.2855G>C
c.2890G>C
c.2872G>C
c.2706G>C (p.Gln902His)
c.767G>C
c.2129G>C (n.2129G>C)
c.2561G>C
c.2066G>C (n.2066G>C)
c.2518G>C
n.721G>C
c.2472G>C (p.Gln824His)
c.4320G>C (p.Gln1440His)
n.532G>C
n.2656G>C
n.2191G>C
c.297G>C (p.Gln99His)
n.2041G>C
c.4227G>C (p.Gln1409His)
n.4608G>C
 dbSNP
19g.11041354G=CA2322734743SMARCA4c.4314G= (p.Gln1438=)
c.4218G= (p.Gln1406=)
c.4119G= (p.Gln1373=)
c.385G=
c.345G= (p.Gln115=)
c.159G= (p.Gln53=)
n.2459G=
c.2712G= (p.Gln904=)
c.1675G=
c.4215G= (p.Gln1405=)
c.2775G= (p.Gln925=)
c.4128G= (p.Gln1376=)
c.2503G=
c.4224G= (p.Gln1408=)
c.2582G=
n.711G=
c.3641G=
c.2855G=
c.2890G=
c.2872G=
c.2706G= (p.Gln902=)
c.767G=
c.2129G= (n.2129G=)
c.2561G=
c.2066G= (n.2066G=)
c.2518G=
n.721G=
c.2472G= (p.Gln824=)
c.4320G= (p.Gln1440=)
n.532G=
n.2656G=
n.2191G=
c.297G= (p.Gln99=)
n.2041G=
c.4227G= (p.Gln1409=)
n.4608G=
19g.11041354G>TCA404072951SMARCA4c.4314G>T (p.Gln1438His)
c.4218G>T (p.Gln1406His)
c.4119G>T (p.Gln1373His)
c.385G>T
c.345G>T (p.Gln115His)
c.159G>T (p.Gln53His)
n.2459G>T
c.2712G>T (p.Gln904His)
c.1675G>T
c.4215G>T (p.Gln1405His)
c.2775G>T (p.Gln925His)
c.4128G>T (p.Gln1376His)
c.2503G>T
c.4224G>T (p.Gln1408His)
c.2582G>T
n.711G>T
c.3641G>T
c.2855G>T
c.2890G>T
c.2872G>T
c.2706G>T (p.Gln902His)
c.767G>T
c.2129G>T (n.2129G>T)
c.2561G>T
c.2066G>T (n.2066G>T)
c.2518G>T
n.721G>T
c.2472G>T (p.Gln824His)
c.4320G>T (p.Gln1440His)
n.532G>T
n.2656G>T
n.2191G>T
c.297G>T (p.Gln99His)
n.2041G>T
c.4227G>T (p.Gln1409His)
n.4608G>T
 dbSNP
19g.11041355A>CCA404072961SMARCA4c.4315A>C (p.Lys1439Gln)
c.4219A>C (p.Lys1407Gln)
c.4120A>C (p.Lys1374Gln)
c.386A>C
c.346A>C (p.Lys116Gln)
c.160A>C (p.Lys54Gln)
n.2460A>C
c.2713A>C (p.Lys905Gln)
c.1676A>C
c.4216A>C (p.Lys1406Gln)
c.2776A>C (p.Lys926Gln)
c.4129A>C (p.Lys1377Gln)
c.2504A>C
c.4225A>C (p.Lys1409Gln)
c.2583A>C
n.712A>C
c.3642A>C
c.2856A>C
c.2891A>C
c.2873A>C
c.2707A>C (p.Lys903Gln)
c.768A>C
c.2130A>C (n.2130A>C)
c.2562A>C
c.2067A>C (n.2067A>C)
c.2519A>C
n.722A>C
c.2473A>C (p.Lys825Gln)
c.4321A>C (p.Lys1441Gln)
n.533A>C
n.2657A>C
n.2192A>C
c.298A>C (p.Lys100Gln)
n.2042A>C
c.4228A>C (p.Lys1410Gln)
n.4609A>C
19g.11041355A>GCA404072959SMARCA4c.4315A>G (p.Lys1439Glu)
c.4219A>G (p.Lys1407Glu)
c.4120A>G (p.Lys1374Glu)
c.386A>G
c.346A>G (p.Lys116Glu)
c.160A>G (p.Lys54Glu)
n.2460A>G
c.2713A>G (p.Lys905Glu)
c.1676A>G
c.4216A>G (p.Lys1406Glu)
c.2776A>G (p.Lys926Glu)
c.4129A>G (p.Lys1377Glu)
c.2504A>G
c.4225A>G (p.Lys1409Glu)
c.2583A>G
n.712A>G
c.3642A>G
c.2856A>G
c.2891A>G
c.2873A>G
c.2707A>G (p.Lys903Glu)
c.768A>G
c.2130A>G (n.2130A>G)
c.2562A>G
c.2067A>G (n.2067A>G)
c.2519A>G
n.722A>G
c.2473A>G (p.Lys825Glu)
c.4321A>G (p.Lys1441Glu)
n.533A>G
n.2657A>G
n.2192A>G
c.298A>G (p.Lys100Glu)
n.2042A>G
c.4228A>G (p.Lys1410Glu)
n.4609A>G
19g.11041355A>TCA404072955SMARCA4c.4315A>T (p.Lys1439Ter)
c.4219A>T (p.Lys1407Ter)
c.4120A>T (p.Lys1374Ter)
c.386A>T
c.346A>T (p.Lys116Ter)
c.160A>T (p.Lys54Ter)
n.2460A>T
c.2713A>T (p.Lys905Ter)
c.1676A>T
c.4216A>T (p.Lys1406Ter)
c.2776A>T (p.Lys926Ter)
c.4129A>T (p.Lys1377Ter)
c.2504A>T
c.4225A>T (p.Lys1409Ter)
c.2583A>T
n.712A>T
c.3642A>T
c.2856A>T
c.2891A>T
c.2873A>T
c.2707A>T (p.Lys903Ter)
c.768A>T
c.2130A>T (n.2130A>T)
c.2562A>T
c.2067A>T (n.2067A>T)
c.2519A>T
n.722A>T
c.2473A>T (p.Lys825Ter)
c.4321A>T (p.Lys1441Ter)
n.533A>T
n.2657A>T
n.2192A>T
c.298A>T (p.Lys100Ter)
n.2042A>T
c.4228A>T (p.Lys1410Ter)
n.4609A>T
 dbSNP
19g.11041356delCA2831039026SMARCA4c.4316del (p.Lys1439ArgfsTer?)
c.4220del (p.Lys1407ArgfsTer?)
c.4121del (p.Lys1374ArgfsTer?)
c.387del
c.347del (p.Lys116ArgfsTer?)
c.161del (p.Lys54ArgfsTer?)
n.2461del
c.2714del (p.Lys905ArgfsTer?)
c.1677del
c.4217del (p.Lys1406ArgfsTer?)
c.2777del (p.Lys926ArgfsTer?)
c.4130del (p.Lys1377ArgfsTer?)
c.2505del
c.4226del (p.Lys1409ArgfsTer?)
c.2584del
n.713del
c.3643del
c.2857del
c.2892del
c.2874del
c.2708del (p.Lys903ArgfsTer?)
c.769del
c.2131del (n.2131del)
c.2563del
c.2068del (n.2068del)
c.2520del
n.723del
c.2474del (p.Lys825ArgfsTer?)
c.4322del (p.Lys1441ArgfsTer?)
n.534del
n.2658del
n.2193del
c.299del (p.Lys100ArgfsTer?)
n.2043del
c.4229del (p.Lys1410ArgfsTer?)
n.4610del
19g.11041356A>CCA404072964SMARCA4c.4316A>C (p.Lys1439Thr)
c.4220A>C (p.Lys1407Thr)
c.4121A>C (p.Lys1374Thr)
c.387A>C
c.347A>C (p.Lys116Thr)
c.161A>C (p.Lys54Thr)
n.2461A>C
c.2714A>C (p.Lys905Thr)
c.1677A>C
c.4217A>C (p.Lys1406Thr)
c.2777A>C (p.Lys926Thr)
c.4130A>C (p.Lys1377Thr)
c.2505A>C
c.4226A>C (p.Lys1409Thr)
c.2584A>C
n.713A>C
c.3643A>C
c.2857A>C
c.2892A>C
c.2874A>C
c.2708A>C (p.Lys903Thr)
c.769A>C
c.2131A>C (n.2131A>C)
c.2563A>C
c.2068A>C (n.2068A>C)
c.2520A>C
n.723A>C
c.2474A>C (p.Lys825Thr)
c.4322A>C (p.Lys1441Thr)
n.534A>C
n.2658A>C
n.2193A>C
c.299A>C (p.Lys100Thr)
n.2043A>C
c.4229A>C (p.Lys1410Thr)
n.4610A>C
19g.11041356A>GCA404072967SMARCA4c.4316A>G (p.Lys1439Arg)
c.4220A>G (p.Lys1407Arg)
c.4121A>G (p.Lys1374Arg)
c.387A>G
c.347A>G (p.Lys116Arg)
c.161A>G (p.Lys54Arg)
n.2461A>G
c.2714A>G (p.Lys905Arg)
c.1677A>G
c.4217A>G (p.Lys1406Arg)
c.2777A>G (p.Lys926Arg)
c.4130A>G (p.Lys1377Arg)
c.2505A>G
c.4226A>G (p.Lys1409Arg)
c.2584A>G
n.713A>G
c.3643A>G
c.2857A>G
c.2892A>G
c.2874A>G
c.2708A>G (p.Lys903Arg)
c.769A>G
c.2131A>G (n.2131A>G)
c.2563A>G
c.2068A>G (n.2068A>G)
c.2520A>G
n.723A>G
c.2474A>G (p.Lys825Arg)
c.4322A>G (p.Lys1441Arg)
n.534A>G
n.2658A>G
n.2193A>G
c.299A>G (p.Lys100Arg)
n.2043A>G
c.4229A>G (p.Lys1410Arg)
n.4610A>G
19g.11041356A>TCA404072973SMARCA4c.4316A>T (p.Lys1439Met)
c.4220A>T (p.Lys1407Met)
c.4121A>T (p.Lys1374Met)
c.387A>T
c.347A>T (p.Lys116Met)
c.161A>T (p.Lys54Met)
n.2461A>T
c.2714A>T (p.Lys905Met)
c.1677A>T
c.4217A>T (p.Lys1406Met)
c.2777A>T (p.Lys926Met)
c.4130A>T (p.Lys1377Met)
c.2505A>T
c.4226A>T (p.Lys1409Met)
c.2584A>T
n.713A>T
c.3643A>T
c.2857A>T
c.2892A>T
c.2874A>T
c.2708A>T (p.Lys903Met)
c.769A>T
c.2131A>T (n.2131A>T)
c.2563A>T
c.2068A>T (n.2068A>T)
c.2520A>T
n.723A>T
c.2474A>T (p.Lys825Met)
c.4322A>T (p.Lys1441Met)
n.534A>T
n.2658A>T
n.2193A>T
c.299A>T (p.Lys100Met)
n.2043A>T
c.4229A>T (p.Lys1410Met)
n.4610A>T
19g.11041357G>ACA505743809SMARCA4c.4317G>A (p.Lys1439=)
c.4221G>A (p.Lys1407=)
c.4122G>A (p.Lys1374=)
c.388G>A
c.348G>A (p.Lys116=)
c.162G>A (p.Lys54=)
n.2462G>A
c.2715G>A (p.Lys905=)
c.1678G>A
c.4218G>A (p.Lys1406=)
c.2778G>A (p.Lys926=)
c.4131G>A (p.Lys1377=)
c.2506G>A
c.4227G>A (p.Lys1409=)
c.2585G>A
n.714G>A
c.3644G>A
c.2858G>A
c.2893G>A
c.2875G>A
c.2709G>A (p.Lys903=)
c.770G>A
c.2132G>A (n.2132G>A)
c.2564G>A
c.2069G>A (n.2069G>A)
c.2521G>A
n.724G>A
c.2475G>A (p.Lys825=)
c.4323G>A (p.Lys1441=)
n.535G>A
n.2659G>A
n.2194G>A
c.300G>A (p.Lys100=)
n.2044G>A
c.4230G>A (p.Lys1410=)
n.4611G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11041357G>CCA404072976SMARCA4c.4317G>C (p.Lys1439Asn)
c.4221G>C (p.Lys1407Asn)
c.4122G>C (p.Lys1374Asn)
c.388G>C
c.348G>C (p.Lys116Asn)
c.162G>C (p.Lys54Asn)
n.2462G>C
c.2715G>C (p.Lys905Asn)
c.1678G>C
c.4218G>C (p.Lys1406Asn)
c.2778G>C (p.Lys926Asn)
c.4131G>C (p.Lys1377Asn)
c.2506G>C
c.4227G>C (p.Lys1409Asn)
c.2585G>C
n.714G>C
c.3644G>C
c.2858G>C
c.2893G>C
c.2875G>C
c.2709G>C (p.Lys903Asn)
c.770G>C
c.2132G>C (n.2132G>C)
c.2564G>C
c.2069G>C (n.2069G>C)
c.2521G>C
n.724G>C
c.2475G>C (p.Lys825Asn)
c.4323G>C (p.Lys1441Asn)
n.535G>C
n.2659G>C
n.2194G>C
c.300G>C (p.Lys100Asn)
n.2044G>C
c.4230G>C (p.Lys1410Asn)
n.4611G>C
 dbSNP
19g.11041357G=CA2322734745SMARCA4c.4317G= (p.Lys1439=)
c.4221G= (p.Lys1407=)
c.4122G= (p.Lys1374=)
c.388G=
c.348G= (p.Lys116=)
c.162G= (p.Lys54=)
n.2462G=
c.2715G= (p.Lys905=)
c.1678G=
c.4218G= (p.Lys1406=)
c.2778G= (p.Lys926=)
c.4131G= (p.Lys1377=)
c.2506G=
c.4227G= (p.Lys1409=)
c.2585G=
n.714G=
c.3644G=
c.2858G=
c.2893G=
c.2875G=
c.2709G= (p.Lys903=)
c.770G=
c.2132G= (n.2132G=)
c.2564G=
c.2069G= (n.2069G=)
c.2521G=
n.724G=
c.2475G= (p.Lys825=)
c.4323G= (p.Lys1441=)
n.535G=
n.2659G=
n.2194G=
c.300G= (p.Lys100=)
n.2044G=
c.4230G= (p.Lys1410=)
n.4611G=
19g.11041357G>TCA404072978SMARCA4c.4317G>T (p.Lys1439Asn)
c.4221G>T (p.Lys1407Asn)
c.4122G>T (p.Lys1374Asn)
c.388G>T
c.348G>T (p.Lys116Asn)
c.162G>T (p.Lys54Asn)
n.2462G>T
c.2715G>T (p.Lys905Asn)
c.1678G>T
c.4218G>T (p.Lys1406Asn)
c.2778G>T (p.Lys926Asn)
c.4131G>T (p.Lys1377Asn)
c.2506G>T
c.4227G>T (p.Lys1409Asn)
c.2585G>T
n.714G>T
c.3644G>T
c.2858G>T
c.2893G>T
c.2875G>T
c.2709G>T (p.Lys903Asn)
c.770G>T
c.2132G>T (n.2132G>T)
c.2564G>T
c.2069G>T (n.2069G>T)
c.2521G>T
n.724G>T
c.2475G>T (p.Lys825Asn)
c.4323G>T (p.Lys1441Asn)
n.535G>T
n.2659G>T
n.2194G>T
c.300G>T (p.Lys100Asn)
n.2044G>T
c.4230G>T (p.Lys1410Asn)
n.4611G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11041358A>CCA404072980SMARCA4c.4318A>C (p.Lys1440Gln)
c.4222A>C (p.Lys1408Gln)
c.4123A>C (p.Lys1375Gln)
c.389A>C
c.349A>C (p.Lys117Gln)
c.163A>C (p.Lys55Gln)
n.2463A>C
c.2716A>C (p.Lys906Gln)
c.1679A>C
c.4219A>C (p.Lys1407Gln)
c.2779A>C (p.Lys927Gln)
c.4132A>C (p.Lys1378Gln)
c.2507A>C
c.4228A>C (p.Lys1410Gln)
c.2586A>C
n.715A>C
c.3645A>C
c.2859A>C
c.2894A>C
c.2876A>C
c.2710A>C (p.Lys904Gln)
c.771A>C
c.2133A>C (n.2133A>C)
c.2565A>C
c.2070A>C (n.2070A>C)
c.2522A>C
n.725A>C
c.2476A>C (p.Lys826Gln)
c.4324A>C (p.Lys1442Gln)
n.536A>C
n.2660A>C
n.2195A>C
c.301A>C (p.Lys101Gln)
n.2045A>C
c.4231A>C (p.Lys1411Gln)
n.4612A>C
19g.11041358A>GCA404072983SMARCA4c.4318A>G (p.Lys1440Glu)
c.4222A>G (p.Lys1408Glu)
c.4123A>G (p.Lys1375Glu)
c.389A>G
c.349A>G (p.Lys117Glu)
c.163A>G (p.Lys55Glu)
n.2463A>G
c.2716A>G (p.Lys906Glu)
c.1679A>G
c.4219A>G (p.Lys1407Glu)
c.2779A>G (p.Lys927Glu)
c.4132A>G (p.Lys1378Glu)
c.2507A>G
c.4228A>G (p.Lys1410Glu)
c.2586A>G
n.715A>G
c.3645A>G
c.2859A>G
c.2894A>G
c.2876A>G
c.2710A>G (p.Lys904Glu)
c.771A>G
c.2133A>G (n.2133A>G)
c.2565A>G
c.2070A>G (n.2070A>G)
c.2522A>G
n.725A>G
c.2476A>G (p.Lys826Glu)
c.4324A>G (p.Lys1442Glu)
n.536A>G
n.2660A>G
n.2195A>G
c.301A>G (p.Lys101Glu)
n.2045A>G
c.4231A>G (p.Lys1411Glu)
n.4612A>G
 dbSNP
19g.11041358A>TCA404072986SMARCA4c.4318A>T (p.Lys1440Ter)
c.4222A>T (p.Lys1408Ter)
c.4123A>T (p.Lys1375Ter)
c.389A>T
c.349A>T (p.Lys117Ter)
c.163A>T (p.Lys55Ter)
n.2463A>T
c.2716A>T (p.Lys906Ter)
c.1679A>T
c.4219A>T (p.Lys1407Ter)
c.2779A>T (p.Lys927Ter)
c.4132A>T (p.Lys1378Ter)
c.2507A>T
c.4228A>T (p.Lys1410Ter)
c.2586A>T
n.715A>T
c.3645A>T
c.2859A>T
c.2894A>T
c.2876A>T
c.2710A>T (p.Lys904Ter)
c.771A>T
c.2133A>T (n.2133A>T)
c.2565A>T
c.2070A>T (n.2070A>T)
c.2522A>T
n.725A>T
c.2476A>T (p.Lys826Ter)
c.4324A>T (p.Lys1442Ter)
n.536A>T
n.2660A>T
n.2195A>T
c.301A>T (p.Lys101Ter)
n.2045A>T
c.4231A>T (p.Lys1411Ter)
n.4612A>T
 dbSNP
19g.11041359A>CCA404072990SMARCA4c.4319A>C (p.Lys1440Thr)
c.4223A>C (p.Lys1408Thr)
c.4124A>C (p.Lys1375Thr)
c.390A>C
c.350A>C (p.Lys117Thr)
c.164A>C (p.Lys55Thr)
n.2464A>C
c.2717A>C (p.Lys906Thr)
c.1680A>C
c.4220A>C (p.Lys1407Thr)
c.2780A>C (p.Lys927Thr)
c.4133A>C (p.Lys1378Thr)
c.2508A>C
c.4229A>C (p.Lys1410Thr)
c.2587A>C
n.716A>C
c.3646A>C
c.2860A>C
c.2895A>C
c.2877A>C
c.2711A>C (p.Lys904Thr)
c.772A>C
c.2134A>C (n.2134A>C)
c.2566A>C
c.2071A>C (n.2071A>C)
c.2523A>C
n.726A>C
c.2477A>C (p.Lys826Thr)
c.4325A>C (p.Lys1442Thr)
n.537A>C
n.2661A>C
n.2196A>C
c.302A>C (p.Lys101Thr)
n.2046A>C
c.4232A>C (p.Lys1411Thr)
n.4613A>C
 dbSNP
19g.11041359A>GCA404072995SMARCA4c.4319A>G (p.Lys1440Arg)
c.4223A>G (p.Lys1408Arg)
c.4124A>G (p.Lys1375Arg)
c.390A>G
c.350A>G (p.Lys117Arg)
c.164A>G (p.Lys55Arg)
n.2464A>G
c.2717A>G (p.Lys906Arg)
c.1680A>G
c.4220A>G (p.Lys1407Arg)
c.2780A>G (p.Lys927Arg)
c.4133A>G (p.Lys1378Arg)
c.2508A>G
c.4229A>G (p.Lys1410Arg)
c.2587A>G
n.716A>G
c.3646A>G
c.2860A>G
c.2895A>G
c.2877A>G
c.2711A>G (p.Lys904Arg)
c.772A>G
c.2134A>G (n.2134A>G)
c.2566A>G
c.2071A>G (n.2071A>G)
c.2523A>G
n.726A>G
c.2477A>G (p.Lys826Arg)
c.4325A>G (p.Lys1442Arg)
n.537A>G
n.2661A>G
n.2196A>G
c.302A>G (p.Lys101Arg)
n.2046A>G
c.4232A>G (p.Lys1411Arg)
n.4613A>G
 dbSNP
19g.11041359A>TCA404073002SMARCA4c.4319A>T (p.Lys1440Ile)
c.4223A>T (p.Lys1408Ile)
c.4124A>T (p.Lys1375Ile)
c.390A>T
c.350A>T (p.Lys117Ile)
c.164A>T (p.Lys55Ile)
n.2464A>T
c.2717A>T (p.Lys906Ile)
c.1680A>T
c.4220A>T (p.Lys1407Ile)
c.2780A>T (p.Lys927Ile)
c.4133A>T (p.Lys1378Ile)
c.2508A>T
c.4229A>T (p.Lys1410Ile)
c.2587A>T
n.716A>T
c.3646A>T
c.2860A>T
c.2895A>T
c.2877A>T
c.2711A>T (p.Lys904Ile)
c.772A>T
c.2134A>T (n.2134A>T)
c.2566A>T
c.2071A>T (n.2071A>T)
c.2523A>T
n.726A>T
c.2477A>T (p.Lys826Ile)
c.4325A>T (p.Lys1442Ile)
n.537A>T
n.2661A>T
n.2196A>T
c.302A>T (p.Lys101Ile)
n.2046A>T
c.4232A>T (p.Lys1411Ile)
n.4613A>T
 dbSNP
19g.11041359_11041362delinsAATCCA2322734750SMARCA4c.4319_4322delinsAATC (p.Lys1440=)
c.4223_4226delinsAATC (p.Lys1408=)
c.4124_4127delinsAATC (p.Lys1375=)
c.390_393delinsAATC
c.350_353delinsAATC (p.Lys117=)
c.164_167delinsAATC (p.Lys55=)
n.2464_2467delinsAATC
c.2717_2720delinsAATC (p.Lys906=)
c.1680_1683delinsAATC
c.4220_4223delinsAATC (p.Lys1407=)
c.2780_2783delinsAATC (p.Lys927=)
c.4133_4136delinsAATC (p.Lys1378=)
c.2508_2511delinsAATC
c.4229_4232delinsAATC (p.Lys1410=)
c.2587_2590delinsAATC
n.716_719delinsAATC
c.3646_3649delinsAATC
c.2860_2863delinsAATC
c.2895_2898delinsAATC
c.2877_2880delinsAATC
c.2711_2714delinsAATC (p.Lys904=)
c.772_775delinsAATC
c.2134_2137delinsAATC (n.2134_2137delinsAATC)
c.2566_2569delinsAATC
c.2071_2074delinsAATC (n.2071_2074delinsAATC)
c.2523_2526delinsAATC
n.726_729delinsAATC
c.2477_2480delinsAATC (p.Lys826=)
c.4325_4328delinsAATC (p.Lys1442=)
n.537_540delinsAATC
n.2661_2664delinsAATC
n.2196_2199delinsAATC
c.302_305delinsAATC (p.Lys101=)
n.2046_2049delinsAATC
c.4232_4235delinsAATC (p.Lys1411=)
n.4613_4616delinsAATC
19g.11041360A>CCA404073004SMARCA4c.4320A>C (p.Lys1440Asn)
c.4224A>C (p.Lys1408Asn)
c.4125A>C (p.Lys1375Asn)
c.391A>C
c.351A>C (p.Lys117Asn)
c.165A>C (p.Lys55Asn)
n.2465A>C
c.2718A>C (p.Lys906Asn)
c.1681A>C
c.4221A>C (p.Lys1407Asn)
c.2781A>C (p.Lys927Asn)
c.4134A>C (p.Lys1378Asn)
c.2509A>C
c.4230A>C (p.Lys1410Asn)
c.2588A>C
n.717A>C
c.3647A>C
c.2861A>C
c.2896A>C
c.2878A>C
c.2712A>C (p.Lys904Asn)
c.773A>C
c.2135A>C (n.2135A>C)
c.2567A>C
c.2072A>C (n.2072A>C)
c.2524A>C
n.727A>C
c.2478A>C (p.Lys826Asn)
c.4326A>C (p.Lys1442Asn)
n.538A>C
n.2662A>C
n.2197A>C
c.303A>C (p.Lys101Asn)
n.2047A>C
c.4233A>C (p.Lys1411Asn)
n.4614A>C
 dbSNP
19g.11041360A>GCA505743810SMARCA4c.4320A>G (p.Lys1440=)
c.4224A>G (p.Lys1408=)
c.4125A>G (p.Lys1375=)
c.391A>G
c.351A>G (p.Lys117=)
c.165A>G (p.Lys55=)
n.2465A>G
c.2718A>G (p.Lys906=)
c.1681A>G
c.4221A>G (p.Lys1407=)
c.2781A>G (p.Lys927=)
c.4134A>G (p.Lys1378=)
c.2509A>G
c.4230A>G (p.Lys1410=)
c.2588A>G
n.717A>G
c.3647A>G
c.2861A>G
c.2896A>G
c.2878A>G
c.2712A>G (p.Lys904=)
c.773A>G
c.2135A>G (n.2135A>G)
c.2567A>G
c.2072A>G (n.2072A>G)
c.2524A>G
n.727A>G
c.2478A>G (p.Lys826=)
c.4326A>G (p.Lys1442=)
n.538A>G
n.2662A>G
n.2197A>G
c.303A>G (p.Lys101=)
n.2047A>G
c.4233A>G (p.Lys1411=)
n.4614A>G
19g.11041360A>TCA404073005SMARCA4c.4320A>T (p.Lys1440Asn)
c.4224A>T (p.Lys1408Asn)
c.4125A>T (p.Lys1375Asn)
c.391A>T
c.351A>T (p.Lys117Asn)
c.165A>T (p.Lys55Asn)
n.2465A>T
c.2718A>T (p.Lys906Asn)
c.1681A>T
c.4221A>T (p.Lys1407Asn)
c.2781A>T (p.Lys927Asn)
c.4134A>T (p.Lys1378Asn)
c.2509A>T
c.4230A>T (p.Lys1410Asn)
c.2588A>T
n.717A>T
c.3647A>T
c.2861A>T
c.2896A>T
c.2878A>T
c.2712A>T (p.Lys904Asn)
c.773A>T
c.2135A>T (n.2135A>T)
c.2567A>T
c.2072A>T (n.2072A>T)
c.2524A>T
n.727A>T
c.2478A>T (p.Lys826Asn)
c.4326A>T (p.Lys1442Asn)
n.538A>T
n.2662A>T
n.2197A>T
c.303A>T (p.Lys101Asn)
n.2047A>T
c.4233A>T (p.Lys1411Asn)
n.4614A>T
 dbSNP
19g.11041360_11041362delinsGAACA2580096248SMARCA4c.4320_4322delinsGAA (p.Ser1441Lys)
c.4224_4226delinsGAA (p.Ser1409Lys)
c.4125_4127delinsGAA (p.Ser1376Lys)
c.391_393delinsGAA
c.351_353delinsGAA (p.Ser118Lys)
c.165_167delinsGAA (p.Ser56Lys)
n.2465_2467delinsGAA
c.2718_2720delinsGAA (p.Ser907Lys)
c.1681_1683delinsGAA
c.4221_4223delinsGAA (p.Ser1408Lys)
c.2781_2783delinsGAA (p.Ser928Lys)
c.4134_4136delinsGAA (p.Ser1379Lys)
c.2509_2511delinsGAA
c.4230_4232delinsGAA (p.Ser1411Lys)
c.2588_2590delinsGAA
n.717_719delinsGAA
c.3647_3649delinsGAA
c.2861_2863delinsGAA
c.2896_2898delinsGAA
c.2878_2880delinsGAA
c.2712_2714delinsGAA (p.Ser905Lys)
c.773_775delinsGAA
c.2135_2137delinsGAA (n.2135_2137delinsGAA)
c.2567_2569delinsGAA
c.2072_2074delinsGAA (n.2072_2074delinsGAA)
c.2524_2526delinsGAA
n.727_729delinsGAA
c.2478_2480delinsGAA (p.Ser827Lys)
c.4326_4328delinsGAA (p.Ser1443Lys)
n.538_540delinsGAA
n.2662_2664delinsGAA
n.2197_2199delinsGAA
c.303_305delinsGAA (p.Ser102Lys)
n.2047_2049delinsGAA
c.4233_4235delinsGAA (p.Ser1412Lys)
n.4614_4616delinsGAA
 ClinVar
19g.11041364_11041366dupCA2576625602SMARCA4c.4324_4326dup (p.Ser1442_Arg1443insSer)
c.4228_4230dup (p.Ser1410_Arg1411insSer)
c.4129_4131dup (p.Ser1377_Arg1378insSer)
c.395_397dup
c.355_357dup (p.Ser119_Arg120insSer)
c.169_171dup (p.Ser57_Arg58insSer)
n.2469_2471dup
c.2722_2724dup (p.Ser908_Arg909insSer)
c.1685_1687dup
c.4225_4227dup (p.Ser1409_Arg1410insSer)
c.2785_2787dup (p.Ser929_Arg930insSer)
c.4138_4140dup (p.Ser1380_Arg1381insSer)
c.2513_2515dup
c.4234_4236dup (p.Ser1412_Arg1413insSer)
c.2592_2594dup
n.721_723dup
c.3651_3653dup
c.2865_2867dup
c.2900_2902dup
c.2882_2884dup
c.2716_2718dup (p.Ser906_Arg907insSer)
c.777_779dup
c.2139_2141dup (n.2139_2141dup)
c.2571_2573dup
c.2076_2078dup (n.2076_2078dup)
c.2528_2530dup
n.731_733dup
c.2482_2484dup (p.Ser828_Arg829insSer)
c.4330_4332dup (p.Ser1444_Arg1445insSer)
n.542_544dup
n.2666_2668dup
n.2201_2203dup
c.307_309dup (p.Ser103_Arg104insSer)
n.2051_2053dup
c.4237_4239dup (p.Ser1413_Arg1414insSer)
n.4618_4620dup
19g.11041364_11041366delCA915951648SMARCA4c.4324_4326del (p.Ser1442del)
c.4228_4230del (p.Ser1410del)
c.4129_4131del (p.Ser1377del)
c.395_397del
c.355_357del (p.Ser119del)
c.169_171del (p.Ser57del)
n.2469_2471del
c.2722_2724del (p.Ser908del)
c.1685_1687del
c.4225_4227del (p.Ser1409del)
c.2785_2787del (p.Ser929del)
c.4138_4140del (p.Ser1380del)
c.2513_2515del
c.4234_4236del (p.Ser1412del)
c.2592_2594del
n.721_723del
c.3651_3653del
c.2865_2867del
c.2900_2902del
c.2882_2884del
c.2716_2718del (p.Ser906del)
c.777_779del
c.2139_2141del (n.2139_2141del)
c.2571_2573del
c.2076_2078del (n.2076_2078del)
c.2528_2530del
n.731_733del
c.2482_2484del (p.Ser828del)
c.4330_4332del (p.Ser1444del)
n.542_544del
n.2666_2668del
n.2201_2203del
c.307_309del (p.Ser103del)
n.2051_2053del
c.4237_4239del (p.Ser1413del)
n.4618_4620del
 ClinVar dbSNP gnomAD v4
19g.11041361T>ACA404073014SMARCA4c.4321T>A (p.Ser1441Thr)
c.4225T>A (p.Ser1409Thr)
c.4126T>A (p.Ser1376Thr)
c.392T>A
c.352T>A (p.Ser118Thr)
c.166T>A (p.Ser56Thr)
n.2466T>A
c.2719T>A (p.Ser907Thr)
c.1682T>A
c.4222T>A (p.Ser1408Thr)
c.2782T>A (p.Ser928Thr)
c.4135T>A (p.Ser1379Thr)
c.2510T>A
c.4231T>A (p.Ser1411Thr)
c.2589T>A
n.718T>A
c.3648T>A
c.2862T>A
c.2897T>A
c.2879T>A
c.2713T>A (p.Ser905Thr)
c.774T>A
c.2136T>A (n.2136T>A)
c.2568T>A
c.2073T>A (n.2073T>A)
c.2525T>A
n.728T>A
c.2479T>A (p.Ser827Thr)
c.4327T>A (p.Ser1443Thr)
n.539T>A
n.2663T>A
n.2198T>A
c.304T>A (p.Ser102Thr)
n.2048T>A
c.4234T>A (p.Ser1412Thr)
n.4615T>A
 ClinVar dbSNP
19g.11041361T>CCA404073011SMARCA4c.4321T>C (p.Ser1441Pro)
c.4225T>C (p.Ser1409Pro)
c.4126T>C (p.Ser1376Pro)
c.392T>C
c.352T>C (p.Ser118Pro)
c.166T>C (p.Ser56Pro)
n.2466T>C
c.2719T>C (p.Ser907Pro)
c.1682T>C
c.4222T>C (p.Ser1408Pro)
c.2782T>C (p.Ser928Pro)
c.4135T>C (p.Ser1379Pro)
c.2510T>C
c.4231T>C (p.Ser1411Pro)
c.2589T>C
n.718T>C
c.3648T>C
c.2862T>C
c.2897T>C
c.2879T>C
c.2713T>C (p.Ser905Pro)
c.774T>C
c.2136T>C (n.2136T>C)
c.2568T>C
c.2073T>C (n.2073T>C)
c.2525T>C
n.728T>C
c.2479T>C (p.Ser827Pro)
c.4327T>C (p.Ser1443Pro)
n.539T>C
n.2663T>C
n.2198T>C
c.304T>C (p.Ser102Pro)
n.2048T>C
c.4234T>C (p.Ser1412Pro)
n.4615T>C
 dbSNP
19g.11041361T>GCA404073008SMARCA4c.4321T>G (p.Ser1441Ala)
c.4225T>G (p.Ser1409Ala)
c.4126T>G (p.Ser1376Ala)
c.392T>G
c.352T>G (p.Ser118Ala)
c.166T>G (p.Ser56Ala)
n.2466T>G
c.2719T>G (p.Ser907Ala)
c.1682T>G
c.4222T>G (p.Ser1408Ala)
c.2782T>G (p.Ser928Ala)
c.4135T>G (p.Ser1379Ala)
c.2510T>G
c.4231T>G (p.Ser1411Ala)
c.2589T>G
n.718T>G
c.3648T>G
c.2862T>G
c.2897T>G
c.2879T>G
c.2713T>G (p.Ser905Ala)
c.774T>G
c.2136T>G (n.2136T>G)
c.2568T>G
c.2073T>G (n.2073T>G)
c.2525T>G
n.728T>G
c.2479T>G (p.Ser827Ala)
c.4327T>G (p.Ser1443Ala)
n.539T>G
n.2663T>G
n.2198T>G
c.304T>G (p.Ser102Ala)
n.2048T>G
c.4234T>G (p.Ser1412Ala)
n.4615T>G
 dbSNP
19g.11041362C>ACA404073019SMARCA4c.4322C>A (p.Ser1441Ter)
c.4226C>A (p.Ser1409Ter)
c.4127C>A (p.Ser1376Ter)
c.393C>A
c.353C>A (p.Ser118Ter)
c.167C>A (p.Ser56Ter)
n.2467C>A
c.2720C>A (p.Ser907Ter)
c.1683C>A
c.4223C>A (p.Ser1408Ter)
c.2783C>A (p.Ser928Ter)
c.4136C>A (p.Ser1379Ter)
c.2511C>A
c.4232C>A (p.Ser1411Ter)
c.2590C>A
n.719C>A
c.3649C>A
c.2863C>A
c.2898C>A
c.2880C>A
c.2714C>A (p.Ser905Ter)
c.775C>A
c.2137C>A (n.2137C>A)
c.2569C>A
c.2074C>A (n.2074C>A)
c.2526C>A
n.729C>A
c.2480C>A (p.Ser827Ter)
c.4328C>A (p.Ser1443Ter)
n.540C>A
n.2664C>A
n.2199C>A
c.305C>A (p.Ser102Ter)
n.2049C>A
c.4235C>A (p.Ser1412Ter)
n.4616C>A
 dbSNP COSMIC COSMIC
19g.11041362C>GCA404073018SMARCA4c.4322C>G (p.Ser1441Ter)
c.4226C>G (p.Ser1409Ter)
c.4127C>G (p.Ser1376Ter)
c.393C>G
c.353C>G (p.Ser118Ter)
c.167C>G (p.Ser56Ter)
n.2467C>G
c.2720C>G (p.Ser907Ter)
c.1683C>G
c.4223C>G (p.Ser1408Ter)
c.2783C>G (p.Ser928Ter)
c.4136C>G (p.Ser1379Ter)
c.2511C>G
c.4232C>G (p.Ser1411Ter)
c.2590C>G
n.719C>G
c.3649C>G
c.2863C>G
c.2898C>G
c.2880C>G
c.2714C>G (p.Ser905Ter)
c.775C>G
c.2137C>G (n.2137C>G)
c.2569C>G
c.2074C>G (n.2074C>G)
c.2526C>G
n.729C>G
c.2480C>G (p.Ser827Ter)
c.4328C>G (p.Ser1443Ter)
n.540C>G
n.2664C>G
n.2199C>G
c.305C>G (p.Ser102Ter)
n.2049C>G
c.4235C>G (p.Ser1412Ter)
n.4616C>G
 dbSNP
19g.11041362C>TCA404073020SMARCA4c.4322C>T (p.Ser1441Leu)
c.4226C>T (p.Ser1409Leu)
c.4127C>T (p.Ser1376Leu)
c.393C>T
c.353C>T (p.Ser118Leu)
c.167C>T (p.Ser56Leu)
n.2467C>T
c.2720C>T (p.Ser907Leu)
c.1683C>T
c.4223C>T (p.Ser1408Leu)
c.2783C>T (p.Ser928Leu)
c.4136C>T (p.Ser1379Leu)
c.2511C>T
c.4232C>T (p.Ser1411Leu)
c.2590C>T
n.719C>T
c.3649C>T
c.2863C>T
c.2898C>T
c.2880C>T
c.2714C>T (p.Ser905Leu)
c.775C>T
c.2137C>T (n.2137C>T)
c.2569C>T
c.2074C>T (n.2074C>T)
c.2526C>T
n.729C>T
c.2480C>T (p.Ser827Leu)
c.4328C>T (p.Ser1443Leu)
n.540C>T
n.2664C>T
n.2199C>T
c.305C>T (p.Ser102Leu)
n.2049C>T
c.4235C>T (p.Ser1412Leu)
n.4616C>T
 dbSNP
19g.11041363A=CA2322734758SMARCA4c.4323A= (p.Ser1441=)
c.4227A= (p.Ser1409=)
c.4128A= (p.Ser1376=)
c.394A=
c.354A= (p.Ser118=)
c.168A= (p.Ser56=)
n.2468A=
c.2721A= (p.Ser907=)
c.1684A=
c.4224A= (p.Ser1408=)
c.2784A= (p.Ser928=)
c.4137A= (p.Ser1379=)
c.2512A=
c.4233A= (p.Ser1411=)
c.2591A=
n.720A=
c.3650A=
c.2864A=
c.2899A=
c.2881A=
c.2715A= (p.Ser905=)
c.776A=
c.2138A= (n.2138A=)
c.2570A=
c.2075A= (n.2075A=)
c.2527A=
n.730A=
c.2481A= (p.Ser827=)
c.4329A= (p.Ser1443=)
n.541A=
n.2665A=
n.2200A=
c.306A= (p.Ser102=)
n.2050A=
c.4236A= (p.Ser1412=)
n.4617A=
19g.11041363A>CCA505743811SMARCA4c.4323A>C (p.Ser1441=)
c.4227A>C (p.Ser1409=)
c.4128A>C (p.Ser1376=)
c.394A>C
c.354A>C (p.Ser118=)
c.168A>C (p.Ser56=)
n.2468A>C
c.2721A>C (p.Ser907=)
c.1684A>C
c.4224A>C (p.Ser1408=)
c.2784A>C (p.Ser928=)
c.4137A>C (p.Ser1379=)
c.2512A>C
c.4233A>C (p.Ser1411=)
c.2591A>C
n.720A>C
c.3650A>C
c.2864A>C
c.2899A>C
c.2881A>C
c.2715A>C (p.Ser905=)
c.776A>C
c.2138A>C (n.2138A>C)
c.2570A>C
c.2075A>C (n.2075A>C)
c.2527A>C
n.730A>C
c.2481A>C (p.Ser827=)
c.4329A>C (p.Ser1443=)
n.541A>C
n.2665A>C
n.2200A>C
c.306A>C (p.Ser102=)
n.2050A>C
c.4236A>C (p.Ser1412=)
n.4617A>C
 ClinVar dbSNP
19g.11041363A>GCA9204677SMARCA4c.4323A>G (p.Ser1441=)
c.4227A>G (p.Ser1409=)
c.4128A>G (p.Ser1376=)
c.394A>G
c.354A>G (p.Ser118=)
c.168A>G (p.Ser56=)
n.2468A>G
c.2721A>G (p.Ser907=)
c.1684A>G
c.4224A>G (p.Ser1408=)
c.2784A>G (p.Ser928=)
c.4137A>G (p.Ser1379=)
c.2512A>G
c.4233A>G (p.Ser1411=)
c.2591A>G
n.720A>G
c.3650A>G
c.2864A>G
c.2899A>G
c.2881A>G
c.2715A>G (p.Ser905=)
c.776A>G
c.2138A>G (n.2138A>G)
c.2570A>G
c.2075A>G (n.2075A>G)
c.2527A>G
n.730A>G
c.2481A>G (p.Ser827=)
c.4329A>G (p.Ser1443=)
n.541A>G
n.2665A>G
n.2200A>G
c.306A>G (p.Ser102=)
n.2050A>G
c.4236A>G (p.Ser1412=)
n.4617A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041363A>TCA16616187SMARCA4c.4323A>T (p.Ser1441=)
c.4227A>T (p.Ser1409=)
c.4128A>T (p.Ser1376=)
c.394A>T
c.354A>T (p.Ser118=)
c.168A>T (p.Ser56=)
n.2468A>T
c.2721A>T (p.Ser907=)
c.1684A>T
c.4224A>T (p.Ser1408=)
c.2784A>T (p.Ser928=)
c.4137A>T (p.Ser1379=)
c.2512A>T
c.4233A>T (p.Ser1411=)
c.2591A>T
n.720A>T
c.3650A>T
c.2864A>T
c.2899A>T
c.2881A>T
c.2715A>T (p.Ser905=)
c.776A>T
c.2138A>T (n.2138A>T)
c.2570A>T
c.2075A>T (n.2075A>T)
c.2527A>T
n.730A>T
c.2481A>T (p.Ser827=)
c.4329A>T (p.Ser1443=)
n.541A>T
n.2665A>T
n.2200A>T
c.306A>T (p.Ser102=)
n.2050A>T
c.4236A>T (p.Ser1412=)
n.4617A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041364T>ACA404073026SMARCA4c.4324T>A (p.Ser1442Thr)
c.4228T>A (p.Ser1410Thr)
c.4129T>A (p.Ser1377Thr)
c.395T>A
c.355T>A (p.Ser119Thr)
c.169T>A (p.Ser57Thr)
n.2469T>A
c.2722T>A (p.Ser908Thr)
c.1685T>A
c.4225T>A (p.Ser1409Thr)
c.2785T>A (p.Ser929Thr)
c.4138T>A (p.Ser1380Thr)
c.2513T>A
c.4234T>A (p.Ser1412Thr)
c.2592T>A
n.721T>A
c.3651T>A
c.2865T>A
c.2900T>A
c.2882T>A
c.2716T>A (p.Ser906Thr)
c.777T>A
c.2139T>A (n.2139T>A)
c.2571T>A
c.2076T>A (n.2076T>A)
c.2528T>A
n.731T>A
c.2482T>A (p.Ser828Thr)
c.4330T>A (p.Ser1444Thr)
n.542T>A
n.2666T>A
n.2201T>A
c.307T>A (p.Ser103Thr)
n.2051T>A
c.4237T>A (p.Ser1413Thr)
n.4618T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11041364T>CCA404073029SMARCA4c.4324T>C (p.Ser1442Pro)
c.4228T>C (p.Ser1410Pro)
c.4129T>C (p.Ser1377Pro)
c.395T>C
c.355T>C (p.Ser119Pro)
c.169T>C (p.Ser57Pro)
n.2469T>C
c.2722T>C (p.Ser908Pro)
c.1685T>C
c.4225T>C (p.Ser1409Pro)
c.2785T>C (p.Ser929Pro)
c.4138T>C (p.Ser1380Pro)
c.2513T>C
c.4234T>C (p.Ser1412Pro)
c.2592T>C
n.721T>C
c.3651T>C
c.2865T>C
c.2900T>C
c.2882T>C
c.2716T>C (p.Ser906Pro)
c.777T>C
c.2139T>C (n.2139T>C)
c.2571T>C
c.2076T>C (n.2076T>C)
c.2528T>C
n.731T>C
c.2482T>C (p.Ser828Pro)
c.4330T>C (p.Ser1444Pro)
n.542T>C
n.2666T>C
n.2201T>C
c.307T>C (p.Ser103Pro)
n.2051T>C
c.4237T>C (p.Ser1413Pro)
n.4618T>C
 dbSNP
19g.11041364T>GCA404073032SMARCA4c.4324T>G (p.Ser1442Ala)
c.4228T>G (p.Ser1410Ala)
c.4129T>G (p.Ser1377Ala)
c.395T>G
c.355T>G (p.Ser119Ala)
c.169T>G (p.Ser57Ala)
n.2469T>G
c.2722T>G (p.Ser908Ala)
c.1685T>G
c.4225T>G (p.Ser1409Ala)
c.2785T>G (p.Ser929Ala)
c.4138T>G (p.Ser1380Ala)
c.2513T>G
c.4234T>G (p.Ser1412Ala)
c.2592T>G
n.721T>G
c.3651T>G
c.2865T>G
c.2900T>G
c.2882T>G
c.2716T>G (p.Ser906Ala)
c.777T>G
c.2139T>G (n.2139T>G)
c.2571T>G
c.2076T>G (n.2076T>G)
c.2528T>G
n.731T>G
c.2482T>G (p.Ser828Ala)
c.4330T>G (p.Ser1444Ala)
n.542T>G
n.2666T>G
n.2201T>G
c.307T>G (p.Ser103Ala)
n.2051T>G
c.4237T>G (p.Ser1413Ala)
n.4618T>G
 dbSNP
19g.11041364T=CA2322734765SMARCA4c.4324T= (p.Ser1442=)
c.4228T= (p.Ser1410=)
c.4129T= (p.Ser1377=)
c.395T=
c.355T= (p.Ser119=)
c.169T= (p.Ser57=)
n.2469T=
c.2722T= (p.Ser908=)
c.1685T=
c.4225T= (p.Ser1409=)
c.2785T= (p.Ser929=)
c.4138T= (p.Ser1380=)
c.2513T=
c.4234T= (p.Ser1412=)
c.2592T=
n.721T=
c.3651T=
c.2865T=
c.2900T=
c.2882T=
c.2716T= (p.Ser906=)
c.777T=
c.2139T= (n.2139T=)
c.2571T=
c.2076T= (n.2076T=)
c.2528T=
n.731T=
c.2482T= (p.Ser828=)
c.4330T= (p.Ser1444=)
n.542T=
n.2666T=
n.2201T=
c.307T= (p.Ser103=)
n.2051T=
c.4237T= (p.Ser1413=)
n.4618T=
19g.11041365C>ACA404073035SMARCA4c.4325C>A (p.Ser1442Ter)
c.4229C>A (p.Ser1410Ter)
c.4130C>A (p.Ser1377Ter)
c.396C>A
c.356C>A (p.Ser119Ter)
c.170C>A (p.Ser57Ter)
n.2470C>A
c.2723C>A (p.Ser908Ter)
c.1686C>A
c.4226C>A (p.Ser1409Ter)
c.2786C>A (p.Ser929Ter)
c.4139C>A (p.Ser1380Ter)
c.2514C>A
c.4235C>A (p.Ser1412Ter)
c.2593C>A
n.722C>A
c.3652C>A
c.2866C>A
c.2901C>A
c.2883C>A
c.2717C>A (p.Ser906Ter)
c.778C>A
c.2140C>A (n.2140C>A)
c.2572C>A
c.2077C>A (n.2077C>A)
c.2529C>A
n.732C>A
c.2483C>A (p.Ser828Ter)
c.4331C>A (p.Ser1444Ter)
n.543C>A
n.2667C>A
n.2202C>A
c.308C>A (p.Ser103Ter)
n.2052C>A
c.4238C>A (p.Ser1413Ter)
n.4619C>A
 dbSNP
19g.11041365C>GCA404073036SMARCA4c.4325C>G (p.Ser1442Ter)
c.4229C>G (p.Ser1410Ter)
c.4130C>G (p.Ser1377Ter)
c.396C>G
c.356C>G (p.Ser119Ter)
c.170C>G (p.Ser57Ter)
n.2470C>G
c.2723C>G (p.Ser908Ter)
c.1686C>G
c.4226C>G (p.Ser1409Ter)
c.2786C>G (p.Ser929Ter)
c.4139C>G (p.Ser1380Ter)
c.2514C>G
c.4235C>G (p.Ser1412Ter)
c.2593C>G
n.722C>G
c.3652C>G
c.2866C>G
c.2901C>G
c.2883C>G
c.2717C>G (p.Ser906Ter)
c.778C>G
c.2140C>G (n.2140C>G)
c.2572C>G
c.2077C>G (n.2077C>G)
c.2529C>G
n.732C>G
c.2483C>G (p.Ser828Ter)
c.4331C>G (p.Ser1444Ter)
n.543C>G
n.2667C>G
n.2202C>G
c.308C>G (p.Ser103Ter)
n.2052C>G
c.4238C>G (p.Ser1413Ter)
n.4619C>G
 dbSNP
19g.11041365C>TCA404073037SMARCA4c.4325C>T (p.Ser1442Leu)
c.4229C>T (p.Ser1410Leu)
c.4130C>T (p.Ser1377Leu)
c.396C>T
c.356C>T (p.Ser119Leu)
c.170C>T (p.Ser57Leu)
n.2470C>T
c.2723C>T (p.Ser908Leu)
c.1686C>T
c.4226C>T (p.Ser1409Leu)
c.2786C>T (p.Ser929Leu)
c.4139C>T (p.Ser1380Leu)
c.2514C>T
c.4235C>T (p.Ser1412Leu)
c.2593C>T
n.722C>T
c.3652C>T
c.2866C>T
c.2901C>T
c.2883C>T
c.2717C>T (p.Ser906Leu)
c.778C>T
c.2140C>T (n.2140C>T)
c.2572C>T
c.2077C>T (n.2077C>T)
c.2529C>T
n.732C>T
c.2483C>T (p.Ser828Leu)
c.4331C>T (p.Ser1444Leu)
n.543C>T
n.2667C>T
n.2202C>T
c.308C>T (p.Ser103Leu)
n.2052C>T
c.4238C>T (p.Ser1413Leu)
n.4619C>T
 dbSNP
19g.11041366A>CCA505743812SMARCA4c.4326A>C (p.Ser1442=)
c.4230A>C (p.Ser1410=)
c.4131A>C (p.Ser1377=)
c.397A>C
c.357A>C (p.Ser119=)
c.171A>C (p.Ser57=)
n.2471A>C
c.2724A>C (p.Ser908=)
c.1687A>C
c.4227A>C (p.Ser1409=)
c.2787A>C (p.Ser929=)
c.4140A>C (p.Ser1380=)
c.2515A>C
c.4236A>C (p.Ser1412=)
c.2594A>C
n.723A>C
c.3653A>C
c.2867A>C
c.2902A>C
c.2884A>C
c.2718A>C (p.Ser906=)
c.779A>C
c.2141A>C (n.2141A>C)
c.2573A>C
c.2078A>C (n.2078A>C)
c.2530A>C
n.733A>C
c.2484A>C (p.Ser828=)
c.4332A>C (p.Ser1444=)
n.544A>C
n.2668A>C
n.2203A>C
c.309A>C (p.Ser103=)
n.2053A>C
c.4239A>C (p.Ser1413=)
n.4620A>C
 dbSNP
19g.11041366A>GCA505743813SMARCA4c.4326A>G (p.Ser1442=)
c.4230A>G (p.Ser1410=)
c.4131A>G (p.Ser1377=)
c.397A>G
c.357A>G (p.Ser119=)
c.171A>G (p.Ser57=)
n.2471A>G
c.2724A>G (p.Ser908=)
c.1687A>G
c.4227A>G (p.Ser1409=)
c.2787A>G (p.Ser929=)
c.4140A>G (p.Ser1380=)
c.2515A>G
c.4236A>G (p.Ser1412=)
c.2594A>G
n.723A>G
c.3653A>G
c.2867A>G
c.2902A>G
c.2884A>G
c.2718A>G (p.Ser906=)
c.779A>G
c.2141A>G (n.2141A>G)
c.2573A>G
c.2078A>G (n.2078A>G)
c.2530A>G
n.733A>G
c.2484A>G (p.Ser828=)
c.4332A>G (p.Ser1444=)
n.544A>G
n.2668A>G
n.2203A>G
c.309A>G (p.Ser103=)
n.2053A>G
c.4239A>G (p.Ser1413=)
n.4620A>G
 ClinVar dbSNP gnomAD v4
19g.11041366A>TCA505743814SMARCA4c.4326A>T (p.Ser1442=)
c.4230A>T (p.Ser1410=)
c.4131A>T (p.Ser1377=)
c.397A>T
c.357A>T (p.Ser119=)
c.171A>T (p.Ser57=)
n.2471A>T
c.2724A>T (p.Ser908=)
c.1687A>T
c.4227A>T (p.Ser1409=)
c.2787A>T (p.Ser929=)
c.4140A>T (p.Ser1380=)
c.2515A>T
c.4236A>T (p.Ser1412=)
c.2594A>T
n.723A>T
c.3653A>T
c.2867A>T
c.2902A>T
c.2884A>T
c.2718A>T (p.Ser906=)
c.779A>T
c.2141A>T (n.2141A>T)
c.2573A>T
c.2078A>T (n.2078A>T)
c.2530A>T
n.733A>T
c.2484A>T (p.Ser828=)
c.4332A>T (p.Ser1444=)
n.544A>T
n.2668A>T
n.2203A>T
c.309A>T (p.Ser103=)
n.2053A>T
c.4239A>T (p.Ser1413=)
n.4620A>T
 dbSNP
19g.11041367C>ACA505743815SMARCA4c.4327C>A (p.Arg1443=)
c.4231C>A (p.Arg1411=)
c.4132C>A (p.Arg1378=)
c.398C>A
c.358C>A (p.Arg120=)
c.172C>A (p.Arg58=)
n.2472C>A
c.2725C>A (p.Arg909=)
c.1688C>A
c.4228C>A (p.Arg1410=)
c.2788C>A (p.Arg930=)
c.4141C>A (p.Arg1381=)
c.2516C>A
c.4237C>A (p.Arg1413=)
c.2595C>A
n.724C>A
c.3654C>A
c.2868C>A
c.2903C>A
c.2885C>A
c.2719C>A (p.Arg907=)
c.780C>A
c.2142C>A (n.2142C>A)
c.2574C>A
c.2079C>A (n.2079C>A)
c.2531C>A
n.734C>A
c.2485C>A (p.Arg829=)
c.4333C>A (p.Arg1445=)
n.545C>A
n.2669C>A
n.2204C>A
c.310C>A (p.Arg104=)
n.2054C>A
c.4240C>A (p.Arg1414=)
n.4621C>A
 ClinVar
19g.11041367C=CA2322734770SMARCA4c.4327C= (p.Arg1443=)
c.4231C= (p.Arg1411=)
c.4132C= (p.Arg1378=)
c.398C=
c.358C= (p.Arg120=)
c.172C= (p.Arg58=)
n.2472C=
c.2725C= (p.Arg909=)
c.1688C=
c.4228C= (p.Arg1410=)
c.2788C= (p.Arg930=)
c.4141C= (p.Arg1381=)
c.2516C=
c.4237C= (p.Arg1413=)
c.2595C=
n.724C=
c.3654C=
c.2868C=
c.2903C=
c.2885C=
c.2719C= (p.Arg907=)
c.780C=
c.2142C= (n.2142C=)
c.2574C=
c.2079C= (n.2079C=)
c.2531C=
n.734C=
c.2485C= (p.Arg829=)
c.4333C= (p.Arg1445=)
n.545C=
n.2669C=
n.2204C=
c.310C= (p.Arg104=)
n.2054C=
c.4240C= (p.Arg1414=)
n.4621C=
19g.11041367C>GCA404073041SMARCA4c.4327C>G (p.Arg1443Gly)
c.4231C>G (p.Arg1411Gly)
c.4132C>G (p.Arg1378Gly)
c.398C>G
c.358C>G (p.Arg120Gly)
c.172C>G (p.Arg58Gly)
n.2472C>G
c.2725C>G (p.Arg909Gly)
c.1688C>G
c.4228C>G (p.Arg1410Gly)
c.2788C>G (p.Arg930Gly)
c.4141C>G (p.Arg1381Gly)
c.2516C>G
c.4237C>G (p.Arg1413Gly)
c.2595C>G
n.724C>G
c.3654C>G
c.2868C>G
c.2903C>G
c.2885C>G
c.2719C>G (p.Arg907Gly)
c.780C>G
c.2142C>G (n.2142C>G)
c.2574C>G
c.2079C>G (n.2079C>G)
c.2531C>G
n.734C>G
c.2485C>G (p.Arg829Gly)
c.4333C>G (p.Arg1445Gly)
n.545C>G
n.2669C>G
n.2204C>G
c.310C>G (p.Arg104Gly)
n.2054C>G
c.4240C>G (p.Arg1414Gly)
n.4621C>G
 dbSNP
19g.11041367C>TCA9204678SMARCA4c.4327C>T (p.Arg1443Trp)
c.4231C>T (p.Arg1411Trp)
c.4132C>T (p.Arg1378Trp)
c.398C>T
c.358C>T (p.Arg120Trp)
c.172C>T (p.Arg58Trp)
n.2472C>T
c.2725C>T (p.Arg909Trp)
c.1688C>T
c.4228C>T (p.Arg1410Trp)
c.2788C>T (p.Arg930Trp)
c.4141C>T (p.Arg1381Trp)
c.2516C>T
c.4237C>T (p.Arg1413Trp)
c.2595C>T
n.724C>T
c.3654C>T
c.2868C>T
c.2903C>T
c.2885C>T
c.2719C>T (p.Arg907Trp)
c.780C>T
c.2142C>T (n.2142C>T)
c.2574C>T
c.2079C>T (n.2079C>T)
c.2531C>T
n.734C>T
c.2485C>T (p.Arg829Trp)
c.4333C>T (p.Arg1445Trp)
n.545C>T
n.2669C>T
n.2204C>T
c.310C>T (p.Arg104Trp)
n.2054C>T
c.4240C>T (p.Arg1414Trp)
n.4621C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.11041368G>ACA10642189SMARCA4c.4328G>A (p.Arg1443Gln)
c.4232G>A (p.Arg1411Gln)
c.4133G>A (p.Arg1378Gln)
c.399G>A
c.359G>A (p.Arg120Gln)
c.173G>A (p.Arg58Gln)
n.2473G>A
c.2726G>A (p.Arg909Gln)
c.1689G>A
c.4229G>A (p.Arg1410Gln)
c.2789G>A (p.Arg930Gln)
c.4142G>A (p.Arg1381Gln)
c.2517G>A
c.4238G>A (p.Arg1413Gln)
c.2596G>A
n.725G>A
c.3655G>A
c.2869G>A
c.2904G>A
c.2886G>A
c.2720G>A (p.Arg907Gln)
c.781G>A
c.2143G>A (n.2143G>A)
c.2575G>A
c.2080G>A (n.2080G>A)
c.2532G>A
n.735G>A
c.2486G>A (p.Arg829Gln)
c.4334G>A (p.Arg1445Gln)
n.546G>A
n.2670G>A
n.2205G>A
c.311G>A (p.Arg104Gln)
n.2055G>A
c.4241G>A (p.Arg1414Gln)
n.4622G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.11041368G>CCA404073049SMARCA4c.4328G>C (p.Arg1443Pro)
c.4232G>C (p.Arg1411Pro)
c.4133G>C (p.Arg1378Pro)
c.399G>C
c.359G>C (p.Arg120Pro)
c.173G>C (p.Arg58Pro)
n.2473G>C
c.2726G>C (p.Arg909Pro)
c.1689G>C
c.4229G>C (p.Arg1410Pro)
c.2789G>C (p.Arg930Pro)
c.4142G>C (p.Arg1381Pro)
c.2517G>C
c.4238G>C (p.Arg1413Pro)
c.2596G>C
n.725G>C
c.3655G>C
c.2869G>C
c.2904G>C
c.2886G>C
c.2720G>C (p.Arg907Pro)
c.781G>C
c.2143G>C (n.2143G>C)
c.2575G>C
c.2080G>C (n.2080G>C)
c.2532G>C
n.735G>C
c.2486G>C (p.Arg829Pro)
c.4334G>C (p.Arg1445Pro)
n.546G>C
n.2670G>C
n.2205G>C
c.311G>C (p.Arg104Pro)
n.2055G>C
c.4241G>C (p.Arg1414Pro)
n.4622G>C
 dbSNP
19g.11041368G=CA2322734778SMARCA4c.4328G= (p.Arg1443=)
c.4232G= (p.Arg1411=)
c.4133G= (p.Arg1378=)
c.399G=
c.359G= (p.Arg120=)
c.173G= (p.Arg58=)
n.2473G=
c.2726G= (p.Arg909=)
c.1689G=
c.4229G= (p.Arg1410=)
c.2789G= (p.Arg930=)
c.4142G= (p.Arg1381=)
c.2517G=
c.4238G= (p.Arg1413=)
c.2596G=
n.725G=
c.3655G=
c.2869G=
c.2904G=
c.2886G=
c.2720G= (p.Arg907=)
c.781G=
c.2143G= (n.2143G=)
c.2575G=
c.2080G= (n.2080G=)
c.2532G=
n.735G=
c.2486G= (p.Arg829=)
c.4334G= (p.Arg1445=)
n.546G=
n.2670G=
n.2205G=
c.311G= (p.Arg104=)
n.2055G=
c.4241G= (p.Arg1414=)
n.4622G=
19g.11041368G>TCA404073050SMARCA4c.4328G>T (p.Arg1443Leu)
c.4232G>T (p.Arg1411Leu)
c.4133G>T (p.Arg1378Leu)
c.399G>T
c.359G>T (p.Arg120Leu)
c.173G>T (p.Arg58Leu)
n.2473G>T
c.2726G>T (p.Arg909Leu)
c.1689G>T
c.4229G>T (p.Arg1410Leu)
c.2789G>T (p.Arg930Leu)
c.4142G>T (p.Arg1381Leu)
c.2517G>T
c.4238G>T (p.Arg1413Leu)
c.2596G>T
n.725G>T
c.3655G>T
c.2869G>T
c.2904G>T
c.2886G>T
c.2720G>T (p.Arg907Leu)
c.781G>T
c.2143G>T (n.2143G>T)
c.2575G>T
c.2080G>T (n.2080G>T)
c.2532G>T
n.735G>T
c.2486G>T (p.Arg829Leu)
c.4334G>T (p.Arg1445Leu)
n.546G>T
n.2670G>T
n.2205G>T
c.311G>T (p.Arg104Leu)
n.2055G>T
c.4241G>T (p.Arg1414Leu)
n.4622G>T
 dbSNP
19g.11041369G>ACA505743818SMARCA4c.4329G>A (p.Arg1443=)
c.4233G>A (p.Arg1411=)
c.4134G>A (p.Arg1378=)
c.400G>A
c.360G>A (p.Arg120=)
c.174G>A (p.Arg58=)
n.2474G>A
c.2727G>A (p.Arg909=)
c.1690G>A
c.4230G>A (p.Arg1410=)
c.2790G>A (p.Arg930=)
c.4143G>A (p.Arg1381=)
c.2518G>A
c.4239G>A (p.Arg1413=)
c.2597G>A
n.726G>A
c.3656G>A
c.2870G>A
c.2905G>A
c.2887G>A
c.2721G>A (p.Arg907=)
c.782G>A
c.2144G>A (n.2144G>A)
c.2576G>A
c.2081G>A (n.2081G>A)
c.2533G>A
n.736G>A
c.2487G>A (p.Arg829=)
c.4335G>A (p.Arg1445=)
n.547G>A
n.2671G>A
n.2206G>A
c.312G>A (p.Arg104=)
n.2056G>A
c.4242G>A (p.Arg1414=)
n.4623G>A
 ClinVar dbSNP COSMIC
19g.11041369G>CCA505743816SMARCA4c.4329G>C (p.Arg1443=)
c.4233G>C (p.Arg1411=)
c.4134G>C (p.Arg1378=)
c.400G>C
c.360G>C (p.Arg120=)
c.174G>C (p.Arg58=)
n.2474G>C
c.2727G>C (p.Arg909=)
c.1690G>C
c.4230G>C (p.Arg1410=)
c.2790G>C (p.Arg930=)
c.4143G>C (p.Arg1381=)
c.2518G>C
c.4239G>C (p.Arg1413=)
c.2597G>C
n.726G>C
c.3656G>C
c.2870G>C
c.2905G>C
c.2887G>C
c.2721G>C (p.Arg907=)
c.782G>C
c.2144G>C (n.2144G>C)
c.2576G>C
c.2081G>C (n.2081G>C)
c.2533G>C
n.736G>C
c.2487G>C (p.Arg829=)
c.4335G>C (p.Arg1445=)
n.547G>C
n.2671G>C
n.2206G>C
c.312G>C (p.Arg104=)
n.2056G>C
c.4242G>C (p.Arg1414=)
n.4623G>C
 ClinVar dbSNP
19g.11041369G>TCA505743817SMARCA4c.4329G>T (p.Arg1443=)
c.4233G>T (p.Arg1411=)
c.4134G>T (p.Arg1378=)
c.400G>T
c.360G>T (p.Arg120=)
c.174G>T (p.Arg58=)
n.2474G>T
c.2727G>T (p.Arg909=)
c.1690G>T
c.4230G>T (p.Arg1410=)
c.2790G>T (p.Arg930=)
c.4143G>T (p.Arg1381=)
c.2518G>T
c.4239G>T (p.Arg1413=)
c.2597G>T
n.726G>T
c.3656G>T
c.2870G>T
c.2905G>T
c.2887G>T
c.2721G>T (p.Arg907=)
c.782G>T
c.2144G>T (n.2144G>T)
c.2576G>T
c.2081G>T (n.2081G>T)
c.2533G>T
n.736G>T
c.2487G>T (p.Arg829=)
c.4335G>T (p.Arg1445=)
n.547G>T
n.2671G>T
n.2206G>T
c.312G>T (p.Arg104=)
n.2056G>T
c.4242G>T (p.Arg1414=)
n.4623G>T
19g.11041370A>CCA404073059SMARCA4c.4330A>C (p.Lys1444Gln)
c.4234A>C (p.Lys1412Gln)
c.4135A>C (p.Lys1379Gln)
c.401A>C
c.361A>C (p.Lys121Gln)
c.175A>C (p.Lys59Gln)
n.2475A>C
c.2728A>C (p.Lys910Gln)
c.1691A>C
c.4231A>C (p.Lys1411Gln)
c.2791A>C (p.Lys931Gln)
c.4144A>C (p.Lys1382Gln)
c.2519A>C
c.4240A>C (p.Lys1414Gln)
c.2598A>C
n.727A>C
c.3657A>C
c.2871A>C
c.2906A>C
c.2888A>C
c.2722A>C (p.Lys908Gln)
c.783A>C
c.2145A>C (n.2145A>C)
c.2577A>C
c.2082A>C (n.2082A>C)
c.2534A>C
n.737A>C
c.2488A>C (p.Lys830Gln)
c.4336A>C (p.Lys1446Gln)
n.548A>C
n.2672A>C
n.2207A>C
c.313A>C (p.Lys105Gln)
n.2057A>C
c.4243A>C (p.Lys1415Gln)
n.4624A>C
19g.11041370A>GCA404073053SMARCA4c.4330A>G (p.Lys1444Glu)
c.4234A>G (p.Lys1412Glu)
c.4135A>G (p.Lys1379Glu)
c.401A>G
c.361A>G (p.Lys121Glu)
c.175A>G (p.Lys59Glu)
n.2475A>G
c.2728A>G (p.Lys910Glu)
c.1691A>G
c.4231A>G (p.Lys1411Glu)
c.2791A>G (p.Lys931Glu)
c.4144A>G (p.Lys1382Glu)
c.2519A>G
c.4240A>G (p.Lys1414Glu)
c.2598A>G
n.727A>G
c.3657A>G
c.2871A>G
c.2906A>G
c.2888A>G
c.2722A>G (p.Lys908Glu)
c.783A>G
c.2145A>G (n.2145A>G)
c.2577A>G
c.2082A>G (n.2082A>G)
c.2534A>G
n.737A>G
c.2488A>G (p.Lys830Glu)
c.4336A>G (p.Lys1446Glu)
n.548A>G
n.2672A>G
n.2207A>G
c.313A>G (p.Lys105Glu)
n.2057A>G
c.4243A>G (p.Lys1415Glu)
n.4624A>G
19g.11041370A>TCA404073056SMARCA4c.4330A>T (p.Lys1444Ter)
c.4234A>T (p.Lys1412Ter)
c.4135A>T (p.Lys1379Ter)
c.401A>T
c.361A>T (p.Lys121Ter)
c.175A>T (p.Lys59Ter)
n.2475A>T
c.2728A>T (p.Lys910Ter)
c.1691A>T
c.4231A>T (p.Lys1411Ter)
c.2791A>T (p.Lys931Ter)
c.4144A>T (p.Lys1382Ter)
c.2519A>T
c.4240A>T (p.Lys1414Ter)
c.2598A>T
n.727A>T
c.3657A>T
c.2871A>T
c.2906A>T
c.2888A>T
c.2722A>T (p.Lys908Ter)
c.783A>T
c.2145A>T (n.2145A>T)
c.2577A>T
c.2082A>T (n.2082A>T)
c.2534A>T
n.737A>T
c.2488A>T (p.Lys830Ter)
c.4336A>T (p.Lys1446Ter)
n.548A>T
n.2672A>T
n.2207A>T
c.313A>T (p.Lys105Ter)
n.2057A>T
c.4243A>T (p.Lys1415Ter)
n.4624A>T
 dbSNP
19g.11041371A>CCA404073062SMARCA4c.4331A>C (p.Lys1444Thr)
c.4235A>C (p.Lys1412Thr)
c.4136A>C (p.Lys1379Thr)
c.402A>C
c.362A>C (p.Lys121Thr)
c.176A>C (p.Lys59Thr)
n.2476A>C
c.2729A>C (p.Lys910Thr)
c.1692A>C
c.4232A>C (p.Lys1411Thr)
c.2792A>C (p.Lys931Thr)
c.4145A>C (p.Lys1382Thr)
c.2520A>C
c.4241A>C (p.Lys1414Thr)
c.2599A>C
n.728A>C
c.3658A>C
c.2872A>C
c.2907A>C
c.2889A>C
c.2723A>C (p.Lys908Thr)
c.784A>C
c.2146A>C (n.2146A>C)
c.2578A>C
c.2083A>C (n.2083A>C)
c.2535A>C
n.738A>C
c.2489A>C (p.Lys830Thr)
c.4337A>C (p.Lys1446Thr)
n.549A>C
n.2673A>C
n.2208A>C
c.314A>C (p.Lys105Thr)
n.2058A>C
c.4244A>C (p.Lys1415Thr)
n.4625A>C
19g.11041371A>GCA404073064SMARCA4c.4331A>G (p.Lys1444Arg)
c.4235A>G (p.Lys1412Arg)
c.4136A>G (p.Lys1379Arg)
c.402A>G
c.362A>G (p.Lys121Arg)
c.176A>G (p.Lys59Arg)
n.2476A>G
c.2729A>G (p.Lys910Arg)
c.1692A>G
c.4232A>G (p.Lys1411Arg)
c.2792A>G (p.Lys931Arg)
c.4145A>G (p.Lys1382Arg)
c.2520A>G
c.4241A>G (p.Lys1414Arg)
c.2599A>G
n.728A>G
c.3658A>G
c.2872A>G
c.2907A>G
c.2889A>G
c.2723A>G (p.Lys908Arg)
c.784A>G
c.2146A>G (n.2146A>G)
c.2578A>G
c.2083A>G (n.2083A>G)
c.2535A>G
n.738A>G
c.2489A>G (p.Lys830Arg)
c.4337A>G (p.Lys1446Arg)
n.549A>G
n.2673A>G
n.2208A>G
c.314A>G (p.Lys105Arg)
n.2058A>G
c.4244A>G (p.Lys1415Arg)
n.4625A>G
 dbSNP
19g.11041371A>TCA404073067SMARCA4c.4331A>T (p.Lys1444Met)
c.4235A>T (p.Lys1412Met)
c.4136A>T (p.Lys1379Met)
c.402A>T
c.362A>T (p.Lys121Met)
c.176A>T (p.Lys59Met)
n.2476A>T
c.2729A>T (p.Lys910Met)
c.1692A>T
c.4232A>T (p.Lys1411Met)
c.2792A>T (p.Lys931Met)
c.4145A>T (p.Lys1382Met)
c.2520A>T
c.4241A>T (p.Lys1414Met)
c.2599A>T
n.728A>T
c.3658A>T
c.2872A>T
c.2907A>T
c.2889A>T
c.2723A>T (p.Lys908Met)
c.784A>T
c.2146A>T (n.2146A>T)
c.2578A>T
c.2083A>T (n.2083A>T)
c.2535A>T
n.738A>T
c.2489A>T (p.Lys830Met)
c.4337A>T (p.Lys1446Met)
n.549A>T
n.2673A>T
n.2208A>T
c.314A>T (p.Lys105Met)
n.2058A>T
c.4244A>T (p.Lys1415Met)
n.4625A>T
 dbSNP
19g.11041372G>ACA9204679SMARCA4c.4332G>A (p.Lys1444=)
c.4236G>A (p.Lys1412=)
c.4137G>A (p.Lys1379=)
c.403G>A
c.363G>A (p.Lys121=)
c.177G>A (p.Lys59=)
n.2477G>A
c.2730G>A (p.Lys910=)
c.1693G>A
c.4233G>A (p.Lys1411=)
c.2793G>A (p.Lys931=)
c.4146G>A (p.Lys1382=)
c.2521G>A
c.4242G>A (p.Lys1414=)
c.2600G>A
n.729G>A
c.3659G>A
c.2873G>A
c.2908G>A
c.2890G>A
c.2724G>A (p.Lys908=)
c.785G>A
c.2147G>A (n.2147G>A)
c.2579G>A
c.2084G>A (n.2084G>A)
c.2536G>A
n.739G>A
c.2490G>A (p.Lys830=)
c.4338G>A (p.Lys1446=)
n.550G>A
n.2674G>A
n.2209G>A
c.315G>A (p.Lys105=)
n.2059G>A
c.4245G>A (p.Lys1415=)
n.4626G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041372G>CCA404073075SMARCA4c.4332G>C (p.Lys1444Asn)
c.4236G>C (p.Lys1412Asn)
c.4137G>C (p.Lys1379Asn)
c.403G>C
c.363G>C (p.Lys121Asn)
c.177G>C (p.Lys59Asn)
n.2477G>C
c.2730G>C (p.Lys910Asn)
c.1693G>C
c.4233G>C (p.Lys1411Asn)
c.2793G>C (p.Lys931Asn)
c.4146G>C (p.Lys1382Asn)
c.2521G>C
c.4242G>C (p.Lys1414Asn)
c.2600G>C
n.729G>C
c.3659G>C
c.2873G>C
c.2908G>C
c.2890G>C
c.2724G>C (p.Lys908Asn)
c.785G>C
c.2147G>C (n.2147G>C)
c.2579G>C
c.2084G>C (n.2084G>C)
c.2536G>C
n.739G>C
c.2490G>C (p.Lys830Asn)
c.4338G>C (p.Lys1446Asn)
n.550G>C
n.2674G>C
n.2209G>C
c.315G>C (p.Lys105Asn)
n.2059G>C
c.4245G>C (p.Lys1415Asn)
n.4626G>C
 dbSNP
19g.11041372G=CA2322734784SMARCA4c.4332G= (p.Lys1444=)
c.4236G= (p.Lys1412=)
c.4137G= (p.Lys1379=)
c.403G=
c.363G= (p.Lys121=)
c.177G= (p.Lys59=)
n.2477G=
c.2730G= (p.Lys910=)
c.1693G=
c.4233G= (p.Lys1411=)
c.2793G= (p.Lys931=)
c.4146G= (p.Lys1382=)
c.2521G=
c.4242G= (p.Lys1414=)
c.2600G=
n.729G=
c.3659G=
c.2873G=
c.2908G=
c.2890G=
c.2724G= (p.Lys908=)
c.785G=
c.2147G= (n.2147G=)
c.2579G=
c.2084G= (n.2084G=)
c.2536G=
n.739G=
c.2490G= (p.Lys830=)
c.4338G= (p.Lys1446=)
n.550G=
n.2674G=
n.2209G=
c.315G= (p.Lys105=)
n.2059G=
c.4245G= (p.Lys1415=)
n.4626G=
19g.11041372G>TCA404073078SMARCA4c.4332G>T (p.Lys1444Asn)
c.4236G>T (p.Lys1412Asn)
c.4137G>T (p.Lys1379Asn)
c.403G>T
c.363G>T (p.Lys121Asn)
c.177G>T (p.Lys59Asn)
n.2477G>T
c.2730G>T (p.Lys910Asn)
c.1693G>T
c.4233G>T (p.Lys1411Asn)
c.2793G>T (p.Lys931Asn)
c.4146G>T (p.Lys1382Asn)
c.2521G>T
c.4242G>T (p.Lys1414Asn)
c.2600G>T
n.729G>T
c.3659G>T
c.2873G>T
c.2908G>T
c.2890G>T
c.2724G>T (p.Lys908Asn)
c.785G>T
c.2147G>T (n.2147G>T)
c.2579G>T
c.2084G>T (n.2084G>T)
c.2536G>T
n.739G>T
c.2490G>T (p.Lys830Asn)
c.4338G>T (p.Lys1446Asn)
n.550G>T
n.2674G>T
n.2209G>T
c.315G>T (p.Lys105Asn)
n.2059G>T
c.4245G>T (p.Lys1415Asn)
n.4626G>T
19g.11041373C>ACA404073083SMARCA4c.4333C>A (p.Arg1445Ser)
c.4237C>A (p.Arg1413Ser)
c.4138C>A (p.Arg1380Ser)
c.404C>A
c.364C>A (p.Arg122Ser)
c.178C>A (p.Arg60Ser)
n.2478C>A
c.2731C>A (p.Arg911Ser)
c.1694C>A
c.4234C>A (p.Arg1412Ser)
c.2794C>A (p.Arg932Ser)
c.4147C>A (p.Arg1383Ser)
c.2522C>A
c.4243C>A (p.Arg1415Ser)
c.2601C>A
n.730C>A
c.3660C>A
c.2874C>A
c.2909C>A
c.2891C>A
c.2725C>A (p.Arg909Ser)
c.786C>A
c.2148C>A (n.2148C>A)
c.2580C>A
c.2085C>A (n.2085C>A)
c.2537C>A
n.740C>A
c.2491C>A (p.Arg831Ser)
c.4339C>A (p.Arg1447Ser)
n.551C>A
n.2675C>A
n.2210C>A
c.316C>A (p.Arg106Ser)
n.2060C>A
c.4246C>A (p.Arg1416Ser)
n.4627C>A
 dbSNP
19g.11041373C=CA2322734787SMARCA4c.4333C= (p.Arg1445=)
c.4237C= (p.Arg1413=)
c.4138C= (p.Arg1380=)
c.404C=
c.364C= (p.Arg122=)
c.178C= (p.Arg60=)
n.2478C=
c.2731C= (p.Arg911=)
c.1694C=
c.4234C= (p.Arg1412=)
c.2794C= (p.Arg932=)
c.4147C= (p.Arg1383=)
c.2522C=
c.4243C= (p.Arg1415=)
c.2601C=
n.730C=
c.3660C=
c.2874C=
c.2909C=
c.2891C=
c.2725C= (p.Arg909=)
c.786C=
c.2148C= (n.2148C=)
c.2580C=
c.2085C= (n.2085C=)
c.2537C=
n.740C=
c.2491C= (p.Arg831=)
c.4339C= (p.Arg1447=)
n.551C=
n.2675C=
n.2210C=
c.316C= (p.Arg106=)
n.2060C=
c.4246C= (p.Arg1416=)
n.4627C=
19g.11041373C>GCA404073085SMARCA4c.4333C>G (p.Arg1445Gly)
c.4237C>G (p.Arg1413Gly)
c.4138C>G (p.Arg1380Gly)
c.404C>G
c.364C>G (p.Arg122Gly)
c.178C>G (p.Arg60Gly)
n.2478C>G
c.2731C>G (p.Arg911Gly)
c.1694C>G
c.4234C>G (p.Arg1412Gly)
c.2794C>G (p.Arg932Gly)
c.4147C>G (p.Arg1383Gly)
c.2522C>G
c.4243C>G (p.Arg1415Gly)
c.2601C>G
n.730C>G
c.3660C>G
c.2874C>G
c.2909C>G
c.2891C>G
c.2725C>G (p.Arg909Gly)
c.786C>G
c.2148C>G (n.2148C>G)
c.2580C>G
c.2085C>G (n.2085C>G)
c.2537C>G
n.740C>G
c.2491C>G (p.Arg831Gly)
c.4339C>G (p.Arg1447Gly)
n.551C>G
n.2675C>G
n.2210C>G
c.316C>G (p.Arg106Gly)
n.2060C>G
c.4246C>G (p.Arg1416Gly)
n.4627C>G
 ClinVar dbSNP gnomAD v4
19g.11041373C>TCA9204680SMARCA4c.4333C>T (p.Arg1445Cys)
c.4237C>T (p.Arg1413Cys)
c.4138C>T (p.Arg1380Cys)
c.404C>T
c.364C>T (p.Arg122Cys)
c.178C>T (p.Arg60Cys)
n.2478C>T
c.2731C>T (p.Arg911Cys)
c.1694C>T
c.4234C>T (p.Arg1412Cys)
c.2794C>T (p.Arg932Cys)
c.4147C>T (p.Arg1383Cys)
c.2522C>T
c.4243C>T (p.Arg1415Cys)
c.2601C>T
n.730C>T
c.3660C>T
c.2874C>T
c.2909C>T
c.2891C>T
c.2725C>T (p.Arg909Cys)
c.786C>T
c.2148C>T (n.2148C>T)
c.2580C>T
c.2085C>T (n.2085C>T)
c.2537C>T
n.740C>T
c.2491C>T (p.Arg831Cys)
c.4339C>T (p.Arg1447Cys)
n.551C>T
n.2675C>T
n.2210C>T
c.316C>T (p.Arg106Cys)
n.2060C>T
c.4246C>T (p.Arg1416Cys)
n.4627C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041374G>ACA404073092SMARCA4c.4334G>A (p.Arg1445His)
c.4238G>A (p.Arg1413His)
c.4139G>A (p.Arg1380His)
c.405G>A
c.365G>A (p.Arg122His)
c.179G>A (p.Arg60His)
n.2479G>A
c.2732G>A (p.Arg911His)
c.1695G>A
c.4235G>A (p.Arg1412His)
c.2795G>A (p.Arg932His)
c.4148G>A (p.Arg1383His)
c.2523G>A
c.4244G>A (p.Arg1415His)
c.2602G>A
n.731G>A
c.3661G>A
c.2875G>A
c.2910G>A
c.2892G>A
c.2726G>A (p.Arg909His)
c.787G>A
c.2149G>A (n.2149G>A)
c.2581G>A
c.2086G>A (n.2086G>A)
c.2538G>A
n.741G>A
c.2492G>A (p.Arg831His)
c.4340G>A (p.Arg1447His)
n.552G>A
n.2676G>A
n.2211G>A
c.317G>A (p.Arg106His)
n.2061G>A
c.4247G>A (p.Arg1416His)
n.4628G>A
 ClinVar dbSNP gnomAD v4
19g.11041374G>CCA404073095SMARCA4c.4334G>C (p.Arg1445Pro)
c.4238G>C (p.Arg1413Pro)
c.4139G>C (p.Arg1380Pro)
c.405G>C
c.365G>C (p.Arg122Pro)
c.179G>C (p.Arg60Pro)
n.2479G>C
c.2732G>C (p.Arg911Pro)
c.1695G>C
c.4235G>C (p.Arg1412Pro)
c.2795G>C (p.Arg932Pro)
c.4148G>C (p.Arg1383Pro)
c.2523G>C
c.4244G>C (p.Arg1415Pro)
c.2602G>C
n.731G>C
c.3661G>C
c.2875G>C
c.2910G>C
c.2892G>C
c.2726G>C (p.Arg909Pro)
c.787G>C
c.2149G>C (n.2149G>C)
c.2581G>C
c.2086G>C (n.2086G>C)
c.2538G>C
n.741G>C
c.2492G>C (p.Arg831Pro)
c.4340G>C (p.Arg1447Pro)
n.552G>C
n.2676G>C
n.2211G>C
c.317G>C (p.Arg106Pro)
n.2061G>C
c.4247G>C (p.Arg1416Pro)
n.4628G>C
 ClinVar dbSNP
19g.11041374G=CA2322734789SMARCA4c.4334G= (p.Arg1445=)
c.4238G= (p.Arg1413=)
c.4139G= (p.Arg1380=)
c.405G=
c.365G= (p.Arg122=)
c.179G= (p.Arg60=)
n.2479G=
c.2732G= (p.Arg911=)
c.1695G=
c.4235G= (p.Arg1412=)
c.2795G= (p.Arg932=)
c.4148G= (p.Arg1383=)
c.2523G=
c.4244G= (p.Arg1415=)
c.2602G=
n.731G=
c.3661G=
c.2875G=
c.2910G=
c.2892G=
c.2726G= (p.Arg909=)
c.787G=
c.2149G= (n.2149G=)
c.2581G=
c.2086G= (n.2086G=)
c.2538G=
n.741G=
c.2492G= (p.Arg831=)
c.4340G= (p.Arg1447=)
n.552G=
n.2676G=
n.2211G=
c.317G= (p.Arg106=)
n.2061G=
c.4247G= (p.Arg1416=)
n.4628G=
19g.11041374G>TCA404073102SMARCA4c.4334G>T (p.Arg1445Leu)
c.4238G>T (p.Arg1413Leu)
c.4139G>T (p.Arg1380Leu)
c.405G>T
c.365G>T (p.Arg122Leu)
c.179G>T (p.Arg60Leu)
n.2479G>T
c.2732G>T (p.Arg911Leu)
c.1695G>T
c.4235G>T (p.Arg1412Leu)
c.2795G>T (p.Arg932Leu)
c.4148G>T (p.Arg1383Leu)
c.2523G>T
c.4244G>T (p.Arg1415Leu)
c.2602G>T
n.731G>T
c.3661G>T
c.2875G>T
c.2910G>T
c.2892G>T
c.2726G>T (p.Arg909Leu)
c.787G>T
c.2149G>T (n.2149G>T)
c.2581G>T
c.2086G>T (n.2086G>T)
c.2538G>T
n.741G>T
c.2492G>T (p.Arg831Leu)
c.4340G>T (p.Arg1447Leu)
n.552G>T
n.2676G>T
n.2211G>T
c.317G>T (p.Arg106Leu)
n.2061G>T
c.4247G>T (p.Arg1416Leu)
n.4628G>T
19g.11041375C>ACA505743819SMARCA4c.4335C>A (p.Arg1445=)
c.4239C>A (p.Arg1413=)
c.4140C>A (p.Arg1380=)
c.406C>A
c.366C>A (p.Arg122=)
c.180C>A (p.Arg60=)
n.2480C>A
c.2733C>A (p.Arg911=)
c.1696C>A
c.4236C>A (p.Arg1412=)
c.2796C>A (p.Arg932=)
c.4149C>A (p.Arg1383=)
c.2524C>A
c.4245C>A (p.Arg1415=)
c.2603C>A
n.732C>A
c.3662C>A
c.2876C>A
c.2911C>A
c.2893C>A
c.2727C>A (p.Arg909=)
c.788C>A
c.2150C>A (n.2150C>A)
c.2582C>A
c.2087C>A (n.2087C>A)
c.2539C>A
n.742C>A
c.2493C>A (p.Arg831=)
c.4341C>A (p.Arg1447=)
n.553C>A
n.2677C>A
n.2212C>A
c.318C>A (p.Arg106=)
n.2062C>A
c.4248C>A (p.Arg1416=)
n.4629C>A
 dbSNP
19g.11041375C=CA2322734794SMARCA4c.4335C= (p.Arg1445=)
c.4239C= (p.Arg1413=)
c.4140C= (p.Arg1380=)
c.406C=
c.366C= (p.Arg122=)
c.180C= (p.Arg60=)
n.2480C=
c.2733C= (p.Arg911=)
c.1696C=
c.4236C= (p.Arg1412=)
c.2796C= (p.Arg932=)
c.4149C= (p.Arg1383=)
c.2524C=
c.4245C= (p.Arg1415=)
c.2603C=
n.732C=
c.3662C=
c.2876C=
c.2911C=
c.2893C=
c.2727C= (p.Arg909=)
c.788C=
c.2150C= (n.2150C=)
c.2582C=
c.2087C= (n.2087C=)
c.2539C=
n.742C=
c.2493C= (p.Arg831=)
c.4341C= (p.Arg1447=)
n.553C=
n.2677C=
n.2212C=
c.318C= (p.Arg106=)
n.2062C=
c.4248C= (p.Arg1416=)
n.4629C=
19g.11041375C>GCA505743821SMARCA4c.4335C>G (p.Arg1445=)
c.4239C>G (p.Arg1413=)
c.4140C>G (p.Arg1380=)
c.406C>G
c.366C>G (p.Arg122=)
c.180C>G (p.Arg60=)
n.2480C>G
c.2733C>G (p.Arg911=)
c.1696C>G
c.4236C>G (p.Arg1412=)
c.2796C>G (p.Arg932=)
c.4149C>G (p.Arg1383=)
c.2524C>G
c.4245C>G (p.Arg1415=)
c.2603C>G
n.732C>G
c.3662C>G
c.2876C>G
c.2911C>G
c.2893C>G
c.2727C>G (p.Arg909=)
c.788C>G
c.2150C>G (n.2150C>G)
c.2582C>G
c.2087C>G (n.2087C>G)
c.2539C>G
n.742C>G
c.2493C>G (p.Arg831=)
c.4341C>G (p.Arg1447=)
n.553C>G
n.2677C>G
n.2212C>G
c.318C>G (p.Arg106=)
n.2062C>G
c.4248C>G (p.Arg1416=)
n.4629C>G
 ClinVar dbSNP
19g.11041375C>TCA505743820SMARCA4c.4335C>T (p.Arg1445=)
c.4239C>T (p.Arg1413=)
c.4140C>T (p.Arg1380=)
c.406C>T
c.366C>T (p.Arg122=)
c.180C>T (p.Arg60=)
n.2480C>T
c.2733C>T (p.Arg911=)
c.1696C>T
c.4236C>T (p.Arg1412=)
c.2796C>T (p.Arg932=)
c.4149C>T (p.Arg1383=)
c.2524C>T
c.4245C>T (p.Arg1415=)
c.2603C>T
n.732C>T
c.3662C>T
c.2876C>T
c.2911C>T
c.2893C>T
c.2727C>T (p.Arg909=)
c.788C>T
c.2150C>T (n.2150C>T)
c.2582C>T
c.2087C>T (n.2087C>T)
c.2539C>T
n.742C>T
c.2493C>T (p.Arg831=)
c.4341C>T (p.Arg1447=)
n.553C>T
n.2677C>T
n.2212C>T
c.318C>T (p.Arg106=)
n.2062C>T
c.4248C>T (p.Arg1416=)
n.4629C>T
 ClinVar dbSNP
19g.11041376A>CCA404073125SMARCA4c.4336A>C (p.Lys1446Gln)
c.4240A>C (p.Lys1414Gln)
c.4141A>C (p.Lys1381Gln)
c.407A>C
c.367A>C (p.Lys123Gln)
c.181A>C (p.Lys61Gln)
n.2481A>C
c.2734A>C (p.Lys912Gln)
c.1697A>C
c.4237A>C (p.Lys1413Gln)
c.2797A>C (p.Lys933Gln)
c.4150A>C (p.Lys1384Gln)
c.2525A>C
c.4246A>C (p.Lys1416Gln)
c.2604A>C
n.733A>C
c.3663A>C
c.2877A>C
c.2912A>C
c.2894A>C
c.2728A>C (p.Lys910Gln)
c.789A>C
c.2151A>C (n.2151A>C)
c.2583A>C
c.2088A>C (n.2088A>C)
c.2540A>C
n.743A>C
c.2494A>C (p.Lys832Gln)
c.4342A>C (p.Lys1448Gln)
n.554A>C
n.2678A>C
n.2213A>C
c.319A>C (p.Lys107Gln)
n.2063A>C
c.4249A>C (p.Lys1417Gln)
n.4630A>C
19g.11041376A>GCA404073129SMARCA4c.4336A>G (p.Lys1446Glu)
c.4240A>G (p.Lys1414Glu)
c.4141A>G (p.Lys1381Glu)
c.407A>G
c.367A>G (p.Lys123Glu)
c.181A>G (p.Lys61Glu)
n.2481A>G
c.2734A>G (p.Lys912Glu)
c.1697A>G
c.4237A>G (p.Lys1413Glu)
c.2797A>G (p.Lys933Glu)
c.4150A>G (p.Lys1384Glu)
c.2525A>G
c.4246A>G (p.Lys1416Glu)
c.2604A>G
n.733A>G
c.3663A>G
c.2877A>G
c.2912A>G
c.2894A>G
c.2728A>G (p.Lys910Glu)
c.789A>G
c.2151A>G (n.2151A>G)
c.2583A>G
c.2088A>G (n.2088A>G)
c.2540A>G
n.743A>G
c.2494A>G (p.Lys832Glu)
c.4342A>G (p.Lys1448Glu)
n.554A>G
n.2678A>G
n.2213A>G
c.319A>G (p.Lys107Glu)
n.2063A>G
c.4249A>G (p.Lys1417Glu)
n.4630A>G
 dbSNP
19g.11041376A>TCA404073107SMARCA4c.4336A>T (p.Lys1446Ter)
c.4240A>T (p.Lys1414Ter)
c.4141A>T (p.Lys1381Ter)
c.407A>T
c.367A>T (p.Lys123Ter)
c.181A>T (p.Lys61Ter)
n.2481A>T
c.2734A>T (p.Lys912Ter)
c.1697A>T
c.4237A>T (p.Lys1413Ter)
c.2797A>T (p.Lys933Ter)
c.4150A>T (p.Lys1384Ter)
c.2525A>T
c.4246A>T (p.Lys1416Ter)
c.2604A>T
n.733A>T
c.3663A>T
c.2877A>T
c.2912A>T
c.2894A>T
c.2728A>T (p.Lys910Ter)
c.789A>T
c.2151A>T (n.2151A>T)
c.2583A>T
c.2088A>T (n.2088A>T)
c.2540A>T
n.743A>T
c.2494A>T (p.Lys832Ter)
c.4342A>T (p.Lys1448Ter)
n.554A>T
n.2678A>T
n.2213A>T
c.319A>T (p.Lys107Ter)
n.2063A>T
c.4249A>T (p.Lys1417Ter)
n.4630A>T
19g.11041377A>CCA404073135SMARCA4c.4337A>C (p.Lys1446Thr)
c.4241A>C (p.Lys1414Thr)
c.4142A>C (p.Lys1381Thr)
c.408A>C
c.368A>C (p.Lys123Thr)
c.182A>C (p.Lys61Thr)
n.2482A>C
c.2735A>C (p.Lys912Thr)
c.1698A>C
c.4238A>C (p.Lys1413Thr)
c.2798A>C (p.Lys933Thr)
c.4151A>C (p.Lys1384Thr)
c.2526A>C
c.4247A>C (p.Lys1416Thr)
c.2605A>C
n.734A>C
c.3664A>C
c.2878A>C
c.2913A>C
c.2895A>C
c.2729A>C (p.Lys910Thr)
c.790A>C
c.2152A>C (n.2152A>C)
c.2584A>C
c.2089A>C (n.2089A>C)
c.2541A>C
n.744A>C
c.2495A>C (p.Lys832Thr)
c.4343A>C (p.Lys1448Thr)
n.555A>C
n.2679A>C
n.2214A>C
c.320A>C (p.Lys107Thr)
n.2064A>C
c.4250A>C (p.Lys1417Thr)
n.4631A>C
19g.11041377A>GCA404073139SMARCA4c.4337A>G (p.Lys1446Arg)
c.4241A>G (p.Lys1414Arg)
c.4142A>G (p.Lys1381Arg)
c.408A>G
c.368A>G (p.Lys123Arg)
c.182A>G (p.Lys61Arg)
n.2482A>G
c.2735A>G (p.Lys912Arg)
c.1698A>G
c.4238A>G (p.Lys1413Arg)
c.2798A>G (p.Lys933Arg)
c.4151A>G (p.Lys1384Arg)
c.2526A>G
c.4247A>G (p.Lys1416Arg)
c.2605A>G
n.734A>G
c.3664A>G
c.2878A>G
c.2913A>G
c.2895A>G
c.2729A>G (p.Lys910Arg)
c.790A>G
c.2152A>G (n.2152A>G)
c.2584A>G
c.2089A>G (n.2089A>G)
c.2541A>G
n.744A>G
c.2495A>G (p.Lys832Arg)
c.4343A>G (p.Lys1448Arg)
n.555A>G
n.2679A>G
n.2214A>G
c.320A>G (p.Lys107Arg)
n.2064A>G
c.4250A>G (p.Lys1417Arg)
n.4631A>G
 dbSNP
19g.11041377A>TCA404073142SMARCA4c.4337A>T (p.Lys1446Met)
c.4241A>T (p.Lys1414Met)
c.4142A>T (p.Lys1381Met)
c.408A>T
c.368A>T (p.Lys123Met)
c.182A>T (p.Lys61Met)
n.2482A>T
c.2735A>T (p.Lys912Met)
c.1698A>T
c.4238A>T (p.Lys1413Met)
c.2798A>T (p.Lys933Met)
c.4151A>T (p.Lys1384Met)
c.2526A>T
c.4247A>T (p.Lys1416Met)
c.2605A>T
n.734A>T
c.3664A>T
c.2878A>T
c.2913A>T
c.2895A>T
c.2729A>T (p.Lys910Met)
c.790A>T
c.2152A>T (n.2152A>T)
c.2584A>T
c.2089A>T (n.2089A>T)
c.2541A>T
n.744A>T
c.2495A>T (p.Lys832Met)
c.4343A>T (p.Lys1448Met)
n.555A>T
n.2679A>T
n.2214A>T
c.320A>T (p.Lys107Met)
n.2064A>T
c.4250A>T (p.Lys1417Met)
n.4631A>T
 dbSNP
19g.11041378G>ACA505743822SMARCA4c.4338G>A (p.Lys1446=)
c.4242G>A (p.Lys1414=)
c.4143G>A (p.Lys1381=)
c.409G>A
c.369G>A (p.Lys123=)
c.183G>A (p.Lys61=)
n.2483G>A
c.2736G>A (p.Lys912=)
c.1699G>A
c.4239G>A (p.Lys1413=)
c.2799G>A (p.Lys933=)
c.4152G>A (p.Lys1384=)
c.2527G>A
c.4248G>A (p.Lys1416=)
c.2606G>A
n.735G>A
c.3665G>A
c.2879G>A
c.2914G>A
c.2896G>A
c.2730G>A (p.Lys910=)
c.791G>A
c.2153G>A (n.2153G>A)
c.2585G>A
c.2090G>A (n.2090G>A)
c.2542G>A
n.745G>A
c.2496G>A (p.Lys832=)
c.4344G>A (p.Lys1448=)
n.556G>A
n.2680G>A
n.2215G>A
c.321G>A (p.Lys107=)
n.2065G>A
c.4251G>A (p.Lys1417=)
n.4632G>A
 dbSNP
19g.11041378G>CCA404073146SMARCA4c.4338G>C (p.Lys1446Asn)
c.4242G>C (p.Lys1414Asn)
c.4143G>C (p.Lys1381Asn)
c.409G>C
c.369G>C (p.Lys123Asn)
c.183G>C (p.Lys61Asn)
n.2483G>C
c.2736G>C (p.Lys912Asn)
c.1699G>C
c.4239G>C (p.Lys1413Asn)
c.2799G>C (p.Lys933Asn)
c.4152G>C (p.Lys1384Asn)
c.2527G>C
c.4248G>C (p.Lys1416Asn)
c.2606G>C
n.735G>C
c.3665G>C
c.2879G>C
c.2914G>C
c.2896G>C
c.2730G>C (p.Lys910Asn)
c.791G>C
c.2153G>C (n.2153G>C)
c.2585G>C
c.2090G>C (n.2090G>C)
c.2542G>C
n.745G>C
c.2496G>C (p.Lys832Asn)
c.4344G>C (p.Lys1448Asn)
n.556G>C
n.2680G>C
n.2215G>C
c.321G>C (p.Lys107Asn)
n.2065G>C
c.4251G>C (p.Lys1417Asn)
n.4632G>C
 dbSNP
19g.11041378G>TCA404073150SMARCA4c.4338G>T (p.Lys1446Asn)
c.4242G>T (p.Lys1414Asn)
c.4143G>T (p.Lys1381Asn)
c.409G>T
c.369G>T (p.Lys123Asn)
c.183G>T (p.Lys61Asn)
n.2483G>T
c.2736G>T (p.Lys912Asn)
c.1699G>T
c.4239G>T (p.Lys1413Asn)
c.2799G>T (p.Lys933Asn)
c.4152G>T (p.Lys1384Asn)
c.2527G>T
c.4248G>T (p.Lys1416Asn)
c.2606G>T
n.735G>T
c.3665G>T
c.2879G>T
c.2914G>T
c.2896G>T
c.2730G>T (p.Lys910Asn)
c.791G>T
c.2153G>T (n.2153G>T)
c.2585G>T
c.2090G>T (n.2090G>T)
c.2542G>T
n.745G>T
c.2496G>T (p.Lys832Asn)
c.4344G>T (p.Lys1448Asn)
n.556G>T
n.2680G>T
n.2215G>T
c.321G>T (p.Lys107Asn)
n.2065G>T
c.4251G>T (p.Lys1417Asn)
n.4632G>T
 dbSNP
19g.11041379C>ACA505743823SMARCA4c.4339C>A (p.Arg1447=)
c.4243C>A (p.Arg1415=)
c.4144C>A (p.Arg1382=)
c.410C>A
c.370C>A (p.Arg124=)
c.184C>A (p.Arg62=)
n.2484C>A
c.2737C>A (p.Arg913=)
c.1700C>A
c.4240C>A (p.Arg1414=)
c.2800C>A (p.Arg934=)
c.4153C>A (p.Arg1385=)
c.2528C>A
c.4249C>A (p.Arg1417=)
c.2607C>A
n.736C>A
c.3666C>A
c.2880C>A
c.2915C>A
c.2897C>A
c.2731C>A (p.Arg911=)
c.792C>A
c.2154C>A (n.2154C>A)
c.2586C>A
c.2091C>A (n.2091C>A)
c.2543C>A
n.746C>A
c.2497C>A (p.Arg833=)
c.4345C>A (p.Arg1449=)
n.557C>A
n.2681C>A
n.2216C>A
c.322C>A (p.Arg108=)
n.2066C>A
c.4252C>A (p.Arg1418=)
n.4633C>A
 ClinVar dbSNP gnomAD v4
19g.11041379C=CA2322734807SMARCA4c.4339C= (p.Arg1447=)
c.4243C= (p.Arg1415=)
c.4144C= (p.Arg1382=)
c.410C=
c.370C= (p.Arg124=)
c.184C= (p.Arg62=)
n.2484C=
c.2737C= (p.Arg913=)
c.1700C=
c.4240C= (p.Arg1414=)
c.2800C= (p.Arg934=)
c.4153C= (p.Arg1385=)
c.2528C=
c.4249C= (p.Arg1417=)
c.2607C=
n.736C=
c.3666C=
c.2880C=
c.2915C=
c.2897C=
c.2731C= (p.Arg911=)
c.792C=
c.2154C= (n.2154C=)
c.2586C=
c.2091C= (n.2091C=)
c.2543C=
n.746C=
c.2497C= (p.Arg833=)
c.4345C= (p.Arg1449=)
n.557C=
n.2681C=
n.2216C=
c.322C= (p.Arg108=)
n.2066C=
c.4252C= (p.Arg1418=)
n.4633C=
19g.11041379C>GCA404073153SMARCA4c.4339C>G (p.Arg1447Gly)
c.4243C>G (p.Arg1415Gly)
c.4144C>G (p.Arg1382Gly)
c.410C>G
c.370C>G (p.Arg124Gly)
c.184C>G (p.Arg62Gly)
n.2484C>G
c.2737C>G (p.Arg913Gly)
c.1700C>G
c.4240C>G (p.Arg1414Gly)
c.2800C>G (p.Arg934Gly)
c.4153C>G (p.Arg1385Gly)
c.2528C>G
c.4249C>G (p.Arg1417Gly)
c.2607C>G
n.736C>G
c.3666C>G
c.2880C>G
c.2915C>G
c.2897C>G
c.2731C>G (p.Arg911Gly)
c.792C>G
c.2154C>G (n.2154C>G)
c.2586C>G
c.2091C>G (n.2091C>G)
c.2543C>G
n.746C>G
c.2497C>G (p.Arg833Gly)
c.4345C>G (p.Arg1449Gly)
n.557C>G
n.2681C>G
n.2216C>G
c.322C>G (p.Arg108Gly)
n.2066C>G
c.4252C>G (p.Arg1418Gly)
n.4633C>G
 dbSNP
19g.11041379C>TCA10583754SMARCA4c.4339C>T (p.Arg1447Ter)
c.4243C>T (p.Arg1415Ter)
c.4144C>T (p.Arg1382Ter)
c.410C>T
c.370C>T (p.Arg124Ter)
c.184C>T (p.Arg62Ter)
n.2484C>T
c.2737C>T (p.Arg913Ter)
c.1700C>T
c.4240C>T (p.Arg1414Ter)
c.2800C>T (p.Arg934Ter)
c.4153C>T (p.Arg1385Ter)
c.2528C>T
c.4249C>T (p.Arg1417Ter)
c.2607C>T
n.736C>T
c.3666C>T
c.2880C>T
c.2915C>T
c.2897C>T
c.2731C>T (p.Arg911Ter)
c.792C>T
c.2154C>T (n.2154C>T)
c.2586C>T
c.2091C>T (n.2091C>T)
c.2543C>T
n.746C>T
c.2497C>T (p.Arg833Ter)
c.4345C>T (p.Arg1449Ter)
n.557C>T
n.2681C>T
n.2216C>T
c.322C>T (p.Arg108Ter)
n.2066C>T
c.4252C>T (p.Arg1418Ter)
n.4633C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
19g.11041380G>ACA10583755SMARCA4c.4340G>A (p.Arg1447Gln)
c.4244G>A (p.Arg1415Gln)
c.4145G>A (p.Arg1382Gln)
c.411G>A
c.371G>A (p.Arg124Gln)
c.185G>A (p.Arg62Gln)
n.2485G>A
c.2738G>A (p.Arg913Gln)
c.1701G>A
c.4241G>A (p.Arg1414Gln)
c.2801G>A (p.Arg934Gln)
c.4154G>A (p.Arg1385Gln)
c.2529G>A
c.4250G>A (p.Arg1417Gln)
c.2608G>A
n.737G>A
c.3667G>A
c.2881G>A
c.2916G>A
c.2898G>A
c.2732G>A (p.Arg911Gln)
c.793G>A
c.2155G>A (n.2155G>A)
c.2587G>A
c.2092G>A (n.2092G>A)
c.2544G>A
n.747G>A
c.2498G>A (p.Arg833Gln)
c.4346G>A (p.Arg1449Gln)
n.558G>A
n.2682G>A
n.2217G>A
c.323G>A (p.Arg108Gln)
n.2067G>A
c.4253G>A (p.Arg1418Gln)
n.4634G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11041380G>CCA404073163SMARCA4c.4340G>C (p.Arg1447Pro)
c.4244G>C (p.Arg1415Pro)
c.4145G>C (p.Arg1382Pro)
c.411G>C
c.371G>C (p.Arg124Pro)
c.185G>C (p.Arg62Pro)
n.2485G>C
c.2738G>C (p.Arg913Pro)
c.1701G>C
c.4241G>C (p.Arg1414Pro)
c.2801G>C (p.Arg934Pro)
c.4154G>C (p.Arg1385Pro)
c.2529G>C
c.4250G>C (p.Arg1417Pro)
c.2608G>C
n.737G>C
c.3667G>C
c.2881G>C
c.2916G>C
c.2898G>C
c.2732G>C (p.Arg911Pro)
c.793G>C
c.2155G>C (n.2155G>C)
c.2587G>C
c.2092G>C (n.2092G>C)
c.2544G>C
n.747G>C
c.2498G>C (p.Arg833Pro)
c.4346G>C (p.Arg1449Pro)
n.558G>C
n.2682G>C
n.2217G>C
c.323G>C (p.Arg108Pro)
n.2067G>C
c.4253G>C (p.Arg1418Pro)
n.4634G>C
19g.11041380G=CA2322734813SMARCA4c.4340G= (p.Arg1447=)
c.4244G= (p.Arg1415=)
c.4145G= (p.Arg1382=)
c.411G=
c.371G= (p.Arg124=)
c.185G= (p.Arg62=)
n.2485G=
c.2738G= (p.Arg913=)
c.1701G=
c.4241G= (p.Arg1414=)
c.2801G= (p.Arg934=)
c.4154G= (p.Arg1385=)
c.2529G=
c.4250G= (p.Arg1417=)
c.2608G=
n.737G=
c.3667G=
c.2881G=
c.2916G=
c.2898G=
c.2732G= (p.Arg911=)
c.793G=
c.2155G= (n.2155G=)
c.2587G=
c.2092G= (n.2092G=)
c.2544G=
n.747G=
c.2498G= (p.Arg833=)
c.4346G= (p.Arg1449=)
n.558G=
n.2682G=
n.2217G=
c.323G= (p.Arg108=)
n.2067G=
c.4253G= (p.Arg1418=)
n.4634G=
19g.11041380G>TCA404073168SMARCA4c.4340G>T (p.Arg1447Leu)
c.4244G>T (p.Arg1415Leu)
c.4145G>T (p.Arg1382Leu)
c.411G>T
c.371G>T (p.Arg124Leu)
c.185G>T (p.Arg62Leu)
n.2485G>T
c.2738G>T (p.Arg913Leu)
c.1701G>T
c.4241G>T (p.Arg1414Leu)
c.2801G>T (p.Arg934Leu)
c.4154G>T (p.Arg1385Leu)
c.2529G>T
c.4250G>T (p.Arg1417Leu)
c.2608G>T
n.737G>T
c.3667G>T
c.2881G>T
c.2916G>T
c.2898G>T
c.2732G>T (p.Arg911Leu)
c.793G>T
c.2155G>T (n.2155G>T)
c.2587G>T
c.2092G>T (n.2092G>T)
c.2544G>T
n.747G>T
c.2498G>T (p.Arg833Leu)
c.4346G>T (p.Arg1449Leu)
n.558G>T
n.2682G>T
n.2217G>T
c.323G>T (p.Arg108Leu)
n.2067G>T
c.4253G>T (p.Arg1418Leu)
n.4634G>T
19g.11041381A>CCA505743824SMARCA4c.4341A>C (p.Arg1447=)
c.4245A>C (p.Arg1415=)
c.4146A>C (p.Arg1382=)
c.412A>C
c.372A>C (p.Arg124=)
c.186A>C (p.Arg62=)
n.2486A>C
c.2739A>C (p.Arg913=)
c.1702A>C
c.4242A>C (p.Arg1414=)
c.2802A>C (p.Arg934=)
c.4155A>C (p.Arg1385=)
c.2530A>C
c.4251A>C (p.Arg1417=)
c.2609A>C
n.738A>C
c.3668A>C
c.2882A>C
c.2917A>C
c.2899A>C
c.2733A>C (p.Arg911=)
c.794A>C
c.2156A>C (n.2156A>C)
c.2588A>C
c.2093A>C (n.2093A>C)
c.2545A>C
n.748A>C
c.2499A>C (p.Arg833=)
c.4347A>C (p.Arg1449=)
n.559A>C
n.2683A>C
n.2218A>C
c.324A>C (p.Arg108=)
n.2068A>C
c.4254A>C (p.Arg1418=)
n.4635A>C
 ClinVar
19g.11041381A>GCA505743825SMARCA4c.4341A>G (p.Arg1447=)
c.4245A>G (p.Arg1415=)
c.4146A>G (p.Arg1382=)
c.412A>G
c.372A>G (p.Arg124=)
c.186A>G (p.Arg62=)
n.2486A>G
c.2739A>G (p.Arg913=)
c.1702A>G
c.4242A>G (p.Arg1414=)
c.2802A>G (p.Arg934=)
c.4155A>G (p.Arg1385=)
c.2530A>G
c.4251A>G (p.Arg1417=)
c.2609A>G
n.738A>G
c.3668A>G
c.2882A>G
c.2917A>G
c.2899A>G
c.2733A>G (p.Arg911=)
c.794A>G
c.2156A>G (n.2156A>G)
c.2588A>G
c.2093A>G (n.2093A>G)
c.2545A>G
n.748A>G
c.2499A>G (p.Arg833=)
c.4347A>G (p.Arg1449=)
n.559A>G
n.2683A>G
n.2218A>G
c.324A>G (p.Arg108=)
n.2068A>G
c.4254A>G (p.Arg1418=)
n.4635A>G
19g.11041381A>TCA505743826SMARCA4c.4341A>T (p.Arg1447=)
c.4245A>T (p.Arg1415=)
c.4146A>T (p.Arg1382=)
c.412A>T
c.372A>T (p.Arg124=)
c.186A>T (p.Arg62=)
n.2486A>T
c.2739A>T (p.Arg913=)
c.1702A>T
c.4242A>T (p.Arg1414=)
c.2802A>T (p.Arg934=)
c.4155A>T (p.Arg1385=)
c.2530A>T
c.4251A>T (p.Arg1417=)
c.2609A>T
n.738A>T
c.3668A>T
c.2882A>T
c.2917A>T
c.2899A>T
c.2733A>T (p.Arg911=)
c.794A>T
c.2156A>T (n.2156A>T)
c.2588A>T
c.2093A>T (n.2093A>T)
c.2545A>T
n.748A>T
c.2499A>T (p.Arg833=)
c.4347A>T (p.Arg1449=)
n.559A>T
n.2683A>T
n.2218A>T
c.324A>T (p.Arg108=)
n.2068A>T
c.4254A>T (p.Arg1418=)
n.4635A>T
 ClinVar dbSNP
19g.11041382G>ACA404073173SMARCA4c.4342G>A (p.Asp1448Asn)
c.4246G>A (p.Asp1416Asn)
c.4147G>A (p.Asp1383Asn)
c.413G>A
c.373G>A (p.Asp125Asn)
c.187G>A (p.Asp63Asn)
n.2487G>A
c.2740G>A (p.Asp914Asn)
c.1703G>A
c.4243G>A (p.Asp1415Asn)
c.2803G>A (p.Asp935Asn)
c.4156G>A (p.Asp1386Asn)
c.2531G>A
c.4252G>A (p.Asp1418Asn)
c.2610G>A
n.739G>A
c.3669G>A
c.2883G>A
c.2918G>A
c.2900G>A
c.2734G>A (p.Asp912Asn)
c.795G>A
c.2157G>A (n.2157G>A)
c.2589G>A
c.2094G>A (n.2094G>A)
c.2546G>A
n.749G>A
c.2500G>A (p.Asp834Asn)
c.4348G>A (p.Asp1450Asn)
n.560G>A
n.2684G>A
n.2219G>A
c.325G>A (p.Asp109Asn)
n.2069G>A
c.4255G>A (p.Asp1419Asn)
n.4636G>A
 ClinVar dbSNP gnomAD v4
19g.11041382G>CCA404073184SMARCA4c.4342G>C (p.Asp1448His)
c.4246G>C (p.Asp1416His)
c.4147G>C (p.Asp1383His)
c.413G>C
c.373G>C (p.Asp125His)
c.187G>C (p.Asp63His)
n.2487G>C
c.2740G>C (p.Asp914His)
c.1703G>C
c.4243G>C (p.Asp1415His)
c.2803G>C (p.Asp935His)
c.4156G>C (p.Asp1386His)
c.2531G>C
c.4252G>C (p.Asp1418His)
c.2610G>C
n.739G>C
c.3669G>C
c.2883G>C
c.2918G>C
c.2900G>C
c.2734G>C (p.Asp912His)
c.795G>C
c.2157G>C (n.2157G>C)
c.2589G>C
c.2094G>C (n.2094G>C)
c.2546G>C
n.749G>C
c.2500G>C (p.Asp834His)
c.4348G>C (p.Asp1450His)
n.560G>C
n.2684G>C
n.2219G>C
c.325G>C (p.Asp109His)
n.2069G>C
c.4255G>C (p.Asp1419His)
n.4636G>C
 ClinVar dbSNP
19g.11041382G=CA2322734819SMARCA4c.4342G= (p.Asp1448=)
c.4246G= (p.Asp1416=)
c.4147G= (p.Asp1383=)
c.413G=
c.373G= (p.Asp125=)
c.187G= (p.Asp63=)
n.2487G=
c.2740G= (p.Asp914=)
c.1703G=
c.4243G= (p.Asp1415=)
c.2803G= (p.Asp935=)
c.4156G= (p.Asp1386=)
c.2531G=
c.4252G= (p.Asp1418=)
c.2610G=
n.739G=
c.3669G=
c.2883G=
c.2918G=
c.2900G=
c.2734G= (p.Asp912=)
c.795G=
c.2157G= (n.2157G=)
c.2589G=
c.2094G= (n.2094G=)
c.2546G=
n.749G=
c.2500G= (p.Asp834=)
c.4348G= (p.Asp1450=)
n.560G=
n.2684G=
n.2219G=
c.325G= (p.Asp109=)
n.2069G=
c.4255G= (p.Asp1419=)
n.4636G=
19g.11041382G>TCA404073186SMARCA4c.4342G>T (p.Asp1448Tyr)
c.4246G>T (p.Asp1416Tyr)
c.4147G>T (p.Asp1383Tyr)
c.413G>T
c.373G>T (p.Asp125Tyr)
c.187G>T (p.Asp63Tyr)
n.2487G>T
c.2740G>T (p.Asp914Tyr)
c.1703G>T
c.4243G>T (p.Asp1415Tyr)
c.2803G>T (p.Asp935Tyr)
c.4156G>T (p.Asp1386Tyr)
c.2531G>T
c.4252G>T (p.Asp1418Tyr)
c.2610G>T
n.739G>T
c.3669G>T
c.2883G>T
c.2918G>T
c.2900G>T
c.2734G>T (p.Asp912Tyr)
c.795G>T
c.2157G>T (n.2157G>T)
c.2589G>T
c.2094G>T (n.2094G>T)
c.2546G>T
n.749G>T
c.2500G>T (p.Asp834Tyr)
c.4348G>T (p.Asp1450Tyr)
n.560G>T
n.2684G>T
n.2219G>T
c.325G>T (p.Asp109Tyr)
n.2069G>T
c.4255G>T (p.Asp1419Tyr)
n.4636G>T
19g.11041383A>CCA404073196SMARCA4c.4343A>C (p.Asp1448Ala)
c.4247A>C (p.Asp1416Ala)
c.4148A>C (p.Asp1383Ala)
c.414A>C
c.374A>C (p.Asp125Ala)
c.188A>C (p.Asp63Ala)
n.2488A>C
c.2741A>C (p.Asp914Ala)
c.1704A>C
c.4244A>C (p.Asp1415Ala)
c.2804A>C (p.Asp935Ala)
c.4157A>C (p.Asp1386Ala)
c.2532A>C
c.4253A>C (p.Asp1418Ala)
c.2611A>C
n.740A>C
c.3670A>C
c.2884A>C
c.2919A>C
c.2901A>C
c.2735A>C (p.Asp912Ala)
c.796A>C
c.2158A>C (n.2158A>C)
c.2590A>C
c.2095A>C (n.2095A>C)
c.2547A>C
n.750A>C
c.2501A>C (p.Asp834Ala)
c.4349A>C (p.Asp1450Ala)
n.561A>C
n.2685A>C
n.2220A>C
c.326A>C (p.Asp109Ala)
n.2070A>C
c.4256A>C (p.Asp1419Ala)
n.4637A>C
 dbSNP
19g.11041383A>GCA404073192SMARCA4c.4343A>G (p.Asp1448Gly)
c.4247A>G (p.Asp1416Gly)
c.4148A>G (p.Asp1383Gly)
c.414A>G
c.374A>G (p.Asp125Gly)
c.188A>G (p.Asp63Gly)
n.2488A>G
c.2741A>G (p.Asp914Gly)
c.1704A>G
c.4244A>G (p.Asp1415Gly)
c.2804A>G (p.Asp935Gly)
c.4157A>G (p.Asp1386Gly)
c.2532A>G
c.4253A>G (p.Asp1418Gly)
c.2611A>G
n.740A>G
c.3670A>G
c.2884A>G
c.2919A>G
c.2901A>G
c.2735A>G (p.Asp912Gly)
c.796A>G
c.2158A>G (n.2158A>G)
c.2590A>G
c.2095A>G (n.2095A>G)
c.2547A>G
n.750A>G
c.2501A>G (p.Asp834Gly)
c.4349A>G (p.Asp1450Gly)
n.561A>G
n.2685A>G
n.2220A>G
c.326A>G (p.Asp109Gly)
n.2070A>G
c.4256A>G (p.Asp1419Gly)
n.4637A>G
 dbSNP
19g.11041383A>TCA404073190SMARCA4c.4343A>T (p.Asp1448Val)
c.4247A>T (p.Asp1416Val)
c.4148A>T (p.Asp1383Val)
c.414A>T
c.374A>T (p.Asp125Val)
c.188A>T (p.Asp63Val)
n.2488A>T
c.2741A>T (p.Asp914Val)
c.1704A>T
c.4244A>T (p.Asp1415Val)
c.2804A>T (p.Asp935Val)
c.4157A>T (p.Asp1386Val)
c.2532A>T
c.4253A>T (p.Asp1418Val)
c.2611A>T
n.740A>T
c.3670A>T
c.2884A>T
c.2919A>T
c.2901A>T
c.2735A>T (p.Asp912Val)
c.796A>T
c.2158A>T (n.2158A>T)
c.2590A>T
c.2095A>T (n.2095A>T)
c.2547A>T
n.750A>T
c.2501A>T (p.Asp834Val)
c.4349A>T (p.Asp1450Val)
n.561A>T
n.2685A>T
n.2220A>T
c.326A>T (p.Asp109Val)
n.2070A>T
c.4256A>T (p.Asp1419Val)
n.4637A>T
 dbSNP
19g.11041384C>ACA404073200SMARCA4c.4344C>A (p.Asp1448Glu)
c.4248C>A (p.Asp1416Glu)
c.4149C>A (p.Asp1383Glu)
c.415C>A
c.375C>A (p.Asp125Glu)
c.189C>A (p.Asp63Glu)
n.2489C>A
c.2742C>A (p.Asp914Glu)
c.1705C>A
c.4245C>A (p.Asp1415Glu)
c.2805C>A (p.Asp935Glu)
c.4158C>A (p.Asp1386Glu)
c.2533C>A
c.4254C>A (p.Asp1418Glu)
c.2612C>A
n.741C>A
c.3671C>A
c.2885C>A
c.2920C>A
c.2902C>A
c.2736C>A (p.Asp912Glu)
c.797C>A
c.2159C>A (n.2159C>A)
c.2591C>A
c.2096C>A (n.2096C>A)
c.2548C>A
n.751C>A
c.2502C>A (p.Asp834Glu)
c.4350C>A (p.Asp1450Glu)
n.562C>A
n.2686C>A
n.2221C>A
c.327C>A (p.Asp109Glu)
n.2071C>A
c.4257C>A (p.Asp1419Glu)
n.4638C>A
 dbSNP
19g.11041384C=CA2322734826SMARCA4c.4344C= (p.Asp1448=)
c.4248C= (p.Asp1416=)
c.4149C= (p.Asp1383=)
c.415C=
c.375C= (p.Asp125=)
c.189C= (p.Asp63=)
n.2489C=
c.2742C= (p.Asp914=)
c.1705C=
c.4245C= (p.Asp1415=)
c.2805C= (p.Asp935=)
c.4158C= (p.Asp1386=)
c.2533C=
c.4254C= (p.Asp1418=)
c.2612C=
n.741C=
c.3671C=
c.2885C=
c.2920C=
c.2902C=
c.2736C= (p.Asp912=)
c.797C=
c.2159C= (n.2159C=)
c.2591C=
c.2096C= (n.2096C=)
c.2548C=
n.751C=
c.2502C= (p.Asp834=)
c.4350C= (p.Asp1450=)
n.562C=
n.2686C=
n.2221C=
c.327C= (p.Asp109=)
n.2071C=
c.4257C= (p.Asp1419=)
n.4638C=
19g.11041384C>GCA404073204SMARCA4c.4344C>G (p.Asp1448Glu)
c.4248C>G (p.Asp1416Glu)
c.4149C>G (p.Asp1383Glu)
c.415C>G
c.375C>G (p.Asp125Glu)
c.189C>G (p.Asp63Glu)
n.2489C>G
c.2742C>G (p.Asp914Glu)
c.1705C>G
c.4245C>G (p.Asp1415Glu)
c.2805C>G (p.Asp935Glu)
c.4158C>G (p.Asp1386Glu)
c.2533C>G
c.4254C>G (p.Asp1418Glu)
c.2612C>G
n.741C>G
c.3671C>G
c.2885C>G
c.2920C>G
c.2902C>G
c.2736C>G (p.Asp912Glu)
c.797C>G
c.2159C>G (n.2159C>G)
c.2591C>G
c.2096C>G (n.2096C>G)
c.2548C>G
n.751C>G
c.2502C>G (p.Asp834Glu)
c.4350C>G (p.Asp1450Glu)
n.562C>G
n.2686C>G
n.2221C>G
c.327C>G (p.Asp109Glu)
n.2071C>G
c.4257C>G (p.Asp1419Glu)
n.4638C>G
 dbSNP
19g.11041384C>TCA16616191SMARCA4c.4344C>T (p.Asp1448=)
c.4248C>T (p.Asp1416=)
c.4149C>T (p.Asp1383=)
c.415C>T
c.375C>T (p.Asp125=)
c.189C>T (p.Asp63=)
n.2489C>T
c.2742C>T (p.Asp914=)
c.1705C>T
c.4245C>T (p.Asp1415=)
c.2805C>T (p.Asp935=)
c.4158C>T (p.Asp1386=)
c.2533C>T
c.4254C>T (p.Asp1418=)
c.2612C>T
n.741C>T
c.3671C>T
c.2885C>T
c.2920C>T
c.2902C>T
c.2736C>T (p.Asp912=)
c.797C>T
c.2159C>T (n.2159C>T)
c.2591C>T
c.2096C>T (n.2096C>T)
c.2548C>T
n.751C>T
c.2502C>T (p.Asp834=)
c.4350C>T (p.Asp1450=)
n.562C>T
n.2686C>T
n.2221C>T
c.327C>T (p.Asp109=)
n.2071C>T
c.4257C>T (p.Asp1419=)
n.4638C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11041385A=CA2322734830SMARCA4c.4345A= (p.Ser1449=)
c.4249A= (p.Ser1417=)
c.4150A= (p.Ser1384=)
c.416A=
c.376A= (p.Ser126=)
c.190A= (p.Ser64=)
n.2490A=
c.2743A= (p.Ser915=)
c.1706A=
c.4246A= (p.Ser1416=)
c.2806A= (p.Ser936=)
c.4159A= (p.Ser1387=)
c.2534A=
c.4255A= (p.Ser1419=)
c.2613A=
n.742A=
c.3672A=
c.2886A=
c.2921A=
c.2903A=
c.2737A= (p.Ser913=)
c.798A=
c.2160A= (n.2160A=)
c.2592A=
c.2097A= (n.2097A=)
c.2549A=
n.752A=
c.2503A= (p.Ser835=)
c.4351A= (p.Ser1451=)
n.563A=
n.2687A=
n.2222A=
c.328A= (p.Ser110=)
n.2072A=
c.4258A= (p.Ser1420=)
n.4639A=
19g.11041385A>CCA404073211SMARCA4c.4345A>C (p.Ser1449Arg)
c.4249A>C (p.Ser1417Arg)
c.4150A>C (p.Ser1384Arg)
c.416A>C
c.376A>C (p.Ser126Arg)
c.190A>C (p.Ser64Arg)
n.2490A>C
c.2743A>C (p.Ser915Arg)
c.1706A>C
c.4246A>C (p.Ser1416Arg)
c.2806A>C (p.Ser936Arg)
c.4159A>C (p.Ser1387Arg)
c.2534A>C
c.4255A>C (p.Ser1419Arg)
c.2613A>C
n.742A>C
c.3672A>C
c.2886A>C
c.2921A>C
c.2903A>C
c.2737A>C (p.Ser913Arg)
c.798A>C
c.2160A>C (n.2160A>C)
c.2592A>C
c.2097A>C (n.2097A>C)
c.2549A>C
n.752A>C
c.2503A>C (p.Ser835Arg)
c.4351A>C (p.Ser1451Arg)
n.563A>C
n.2687A>C
n.2222A>C
c.328A>C (p.Ser110Arg)
n.2072A>C
c.4258A>C (p.Ser1420Arg)
n.4639A>C
 dbSNP
19g.11041385A>GCA9204681SMARCA4c.4345A>G (p.Ser1449Gly)
c.4249A>G (p.Ser1417Gly)
c.4150A>G (p.Ser1384Gly)
c.416A>G
c.376A>G (p.Ser126Gly)
c.190A>G (p.Ser64Gly)
n.2490A>G
c.2743A>G (p.Ser915Gly)
c.1706A>G
c.4246A>G (p.Ser1416Gly)
c.2806A>G (p.Ser936Gly)
c.4159A>G (p.Ser1387Gly)
c.2534A>G
c.4255A>G (p.Ser1419Gly)
c.2613A>G
n.742A>G
c.3672A>G
c.2886A>G
c.2921A>G
c.2903A>G
c.2737A>G (p.Ser913Gly)
c.798A>G
c.2160A>G (n.2160A>G)
c.2592A>G
c.2097A>G (n.2097A>G)
c.2549A>G
n.752A>G
c.2503A>G (p.Ser835Gly)
c.4351A>G (p.Ser1451Gly)
n.563A>G
n.2687A>G
n.2222A>G
c.328A>G (p.Ser110Gly)
n.2072A>G
c.4258A>G (p.Ser1420Gly)
n.4639A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041385A>TCA404073217SMARCA4c.4345A>T (p.Ser1449Cys)
c.4249A>T (p.Ser1417Cys)
c.4150A>T (p.Ser1384Cys)
c.416A>T
c.376A>T (p.Ser126Cys)
c.190A>T (p.Ser64Cys)
n.2490A>T
c.2743A>T (p.Ser915Cys)
c.1706A>T
c.4246A>T (p.Ser1416Cys)
c.2806A>T (p.Ser936Cys)
c.4159A>T (p.Ser1387Cys)
c.2534A>T
c.4255A>T (p.Ser1419Cys)
c.2613A>T
n.742A>T
c.3672A>T
c.2886A>T
c.2921A>T
c.2903A>T
c.2737A>T (p.Ser913Cys)
c.798A>T
c.2160A>T (n.2160A>T)
c.2592A>T
c.2097A>T (n.2097A>T)
c.2549A>T
n.752A>T
c.2503A>T (p.Ser835Cys)
c.4351A>T (p.Ser1451Cys)
n.563A>T
n.2687A>T
n.2222A>T
c.328A>T (p.Ser110Cys)
n.2072A>T
c.4258A>T (p.Ser1420Cys)
n.4639A>T
 dbSNP
19g.11041386G>ACA404073223SMARCA4c.4346G>A (p.Ser1449Asn)
c.4250G>A (p.Ser1417Asn)
c.4151G>A (p.Ser1384Asn)
c.417G>A
c.377G>A (p.Ser126Asn)
c.191G>A (p.Ser64Asn)
n.2491G>A
c.2744G>A (p.Ser915Asn)
c.1707G>A
c.4247G>A (p.Ser1416Asn)
c.2807G>A (p.Ser936Asn)
c.4160G>A (p.Ser1387Asn)
c.2535G>A
c.4256G>A (p.Ser1419Asn)
c.2614G>A
n.743G>A
c.3673G>A
c.2887G>A
c.2922G>A
c.2904G>A
c.2738G>A (p.Ser913Asn)
c.799G>A
c.2161G>A (n.2161G>A)
c.2593G>A
c.2098G>A (n.2098G>A)
c.2550G>A
n.753G>A
c.2504G>A (p.Ser835Asn)
c.4352G>A (p.Ser1451Asn)
n.564G>A
n.2688G>A
n.2223G>A
c.329G>A (p.Ser110Asn)
n.2073G>A
c.4259G>A (p.Ser1420Asn)
n.4640G>A
 ClinVar dbSNP
19g.11041386G>CCA404073224SMARCA4c.4346G>C (p.Ser1449Thr)
c.4250G>C (p.Ser1417Thr)
c.4151G>C (p.Ser1384Thr)
c.417G>C
c.377G>C (p.Ser126Thr)
c.191G>C (p.Ser64Thr)
n.2491G>C
c.2744G>C (p.Ser915Thr)
c.1707G>C
c.4247G>C (p.Ser1416Thr)
c.2807G>C (p.Ser936Thr)
c.4160G>C (p.Ser1387Thr)
c.2535G>C
c.4256G>C (p.Ser1419Thr)
c.2614G>C
n.743G>C
c.3673G>C
c.2887G>C
c.2922G>C
c.2904G>C
c.2738G>C (p.Ser913Thr)
c.799G>C
c.2161G>C (n.2161G>C)
c.2593G>C
c.2098G>C (n.2098G>C)
c.2550G>C
n.753G>C
c.2504G>C (p.Ser835Thr)
c.4352G>C (p.Ser1451Thr)
n.564G>C
n.2688G>C
n.2223G>C
c.329G>C (p.Ser110Thr)
n.2073G>C
c.4259G>C (p.Ser1420Thr)
n.4640G>C
 dbSNP
19g.11041386G=CA2322734838SMARCA4c.4346G= (p.Ser1449=)
c.4250G= (p.Ser1417=)
c.4151G= (p.Ser1384=)
c.417G=
c.377G= (p.Ser126=)
c.191G= (p.Ser64=)
n.2491G=
c.2744G= (p.Ser915=)
c.1707G=
c.4247G= (p.Ser1416=)
c.2807G= (p.Ser936=)
c.4160G= (p.Ser1387=)
c.2535G=
c.4256G= (p.Ser1419=)
c.2614G=
n.743G=
c.3673G=
c.2887G=
c.2922G=
c.2904G=
c.2738G= (p.Ser913=)
c.799G=
c.2161G= (n.2161G=)
c.2593G=
c.2098G= (n.2098G=)
c.2550G=
n.753G=
c.2504G= (p.Ser835=)
c.4352G= (p.Ser1451=)
n.564G=
n.2688G=
n.2223G=
c.329G= (p.Ser110=)
n.2073G=
c.4259G= (p.Ser1420=)
n.4640G=
19g.11041386G>TCA404073225SMARCA4c.4346G>T (p.Ser1449Ile)
c.4250G>T (p.Ser1417Ile)
c.4151G>T (p.Ser1384Ile)
c.417G>T
c.377G>T (p.Ser126Ile)
c.191G>T (p.Ser64Ile)
n.2491G>T
c.2744G>T (p.Ser915Ile)
c.1707G>T
c.4247G>T (p.Ser1416Ile)
c.2807G>T (p.Ser936Ile)
c.4160G>T (p.Ser1387Ile)
c.2535G>T
c.4256G>T (p.Ser1419Ile)
c.2614G>T
n.743G>T
c.3673G>T
c.2887G>T
c.2922G>T
c.2904G>T
c.2738G>T (p.Ser913Ile)
c.799G>T
c.2161G>T (n.2161G>T)
c.2593G>T
c.2098G>T (n.2098G>T)
c.2550G>T
n.753G>T
c.2504G>T (p.Ser835Ile)
c.4352G>T (p.Ser1451Ile)
n.564G>T
n.2688G>T
n.2223G>T
c.329G>T (p.Ser110Ile)
n.2073G>T
c.4259G>T (p.Ser1420Ile)
n.4640G>T
 ClinVar dbSNP
19g.11041387C>ACA404073226SMARCA4c.4347C>A (p.Ser1449Arg)
c.4251C>A (p.Ser1417Arg)
c.4152C>A (p.Ser1384Arg)
c.418C>A
c.378C>A (p.Ser126Arg)
c.192C>A (p.Ser64Arg)
n.2492C>A
c.2745C>A (p.Ser915Arg)
c.1708C>A
c.4248C>A (p.Ser1416Arg)
c.2808C>A (p.Ser936Arg)
c.4161C>A (p.Ser1387Arg)
c.2536C>A
c.4257C>A (p.Ser1419Arg)
c.2615C>A
n.744C>A
c.3674C>A
c.2888C>A
c.2923C>A
c.2905C>A
c.2739C>A (p.Ser913Arg)
c.800C>A
c.2162C>A (n.2162C>A)
c.2594C>A
c.2099C>A (n.2099C>A)
c.2551C>A
n.754C>A
c.2505C>A (p.Ser835Arg)
c.4353C>A (p.Ser1451Arg)
n.565C>A
n.2689C>A
n.2224C>A
c.330C>A (p.Ser110Arg)
n.2074C>A
c.4260C>A (p.Ser1420Arg)
n.4641C>A
 ClinVar dbSNP
19g.11041387C=CA2322734842SMARCA4c.4347C= (p.Ser1449=)
c.4251C= (p.Ser1417=)
c.4152C= (p.Ser1384=)
c.418C=
c.378C= (p.Ser126=)
c.192C= (p.Ser64=)
n.2492C=
c.2745C= (p.Ser915=)
c.1708C=
c.4248C= (p.Ser1416=)
c.2808C= (p.Ser936=)
c.4161C= (p.Ser1387=)
c.2536C=
c.4257C= (p.Ser1419=)
c.2615C=
n.744C=
c.3674C=
c.2888C=
c.2923C=
c.2905C=
c.2739C= (p.Ser913=)
c.800C=
c.2162C= (n.2162C=)
c.2594C=
c.2099C= (n.2099C=)
c.2551C=
n.754C=
c.2505C= (p.Ser835=)
c.4353C= (p.Ser1451=)
n.565C=
n.2689C=
n.2224C=
c.330C= (p.Ser110=)
n.2074C=
c.4260C= (p.Ser1420=)
n.4641C=
19g.11041387C>GCA404073229SMARCA4c.4347C>G (p.Ser1449Arg)
c.4251C>G (p.Ser1417Arg)
c.4152C>G (p.Ser1384Arg)
c.418C>G
c.378C>G (p.Ser126Arg)
c.192C>G (p.Ser64Arg)
n.2492C>G
c.2745C>G (p.Ser915Arg)
c.1708C>G
c.4248C>G (p.Ser1416Arg)
c.2808C>G (p.Ser936Arg)
c.4161C>G (p.Ser1387Arg)
c.2536C>G
c.4257C>G (p.Ser1419Arg)
c.2615C>G
n.744C>G
c.3674C>G
c.2888C>G
c.2923C>G
c.2905C>G
c.2739C>G (p.Ser913Arg)
c.800C>G
c.2162C>G (n.2162C>G)
c.2594C>G
c.2099C>G (n.2099C>G)
c.2551C>G
n.754C>G
c.2505C>G (p.Ser835Arg)
c.4353C>G (p.Ser1451Arg)
n.565C>G
n.2689C>G
n.2224C>G
c.330C>G (p.Ser110Arg)
n.2074C>G
c.4260C>G (p.Ser1420Arg)
n.4641C>G
 dbSNP
19g.11041387C>TCA9204682SMARCA4c.4347C>T (p.Ser1449=)
c.4251C>T (p.Ser1417=)
c.4152C>T (p.Ser1384=)
c.418C>T
c.378C>T (p.Ser126=)
c.192C>T (p.Ser64=)
n.2492C>T
c.2745C>T (p.Ser915=)
c.1708C>T
c.4248C>T (p.Ser1416=)
c.2808C>T (p.Ser936=)
c.4161C>T (p.Ser1387=)
c.2536C>T
c.4257C>T (p.Ser1419=)
c.2615C>T
n.744C>T
c.3674C>T
c.2888C>T
c.2923C>T
c.2905C>T
c.2739C>T (p.Ser913=)
c.800C>T
c.2162C>T (n.2162C>T)
c.2594C>T
c.2099C>T (n.2099C>T)
c.2551C>T
n.754C>T
c.2505C>T (p.Ser835=)
c.4353C>T (p.Ser1451=)
n.565C>T
n.2689C>T
n.2224C>T
c.330C>T (p.Ser110=)
n.2074C>T
c.4260C>T (p.Ser1420=)
n.4641C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041388G>ACA9204683SMARCA4c.4348G>A (p.Asp1450Asn)
c.4252G>A (p.Asp1418Asn)
c.4153G>A (p.Asp1385Asn)
c.419G>A
c.379G>A (p.Asp127Asn)
c.193G>A (p.Asp65Asn)
n.2493G>A
c.2746G>A (p.Asp916Asn)
c.1709G>A
c.4249G>A (p.Asp1417Asn)
c.2809G>A (p.Asp937Asn)
c.4162G>A (p.Asp1388Asn)
c.2537G>A
c.4258G>A (p.Asp1420Asn)
c.2616G>A
n.745G>A
c.3675G>A
c.2889G>A
c.2924G>A
c.2906G>A
c.2740G>A (p.Asp914Asn)
c.801G>A
c.2163G>A (n.2163G>A)
c.2595G>A
c.2100G>A (n.2100G>A)
c.2552G>A
n.755G>A
c.2506G>A (p.Asp836Asn)
c.4354G>A (p.Asp1452Asn)
n.566G>A
n.2690G>A
n.2225G>A
c.331G>A (p.Asp111Asn)
n.2075G>A
c.4261G>A (p.Asp1421Asn)
n.4642G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.11041388G>CCA404073237SMARCA4c.4348G>C (p.Asp1450His)
c.4252G>C (p.Asp1418His)
c.4153G>C (p.Asp1385His)
c.419G>C
c.379G>C (p.Asp127His)
c.193G>C (p.Asp65His)
n.2493G>C
c.2746G>C (p.Asp916His)
c.1709G>C
c.4249G>C (p.Asp1417His)
c.2809G>C (p.Asp937His)
c.4162G>C (p.Asp1388His)
c.2537G>C
c.4258G>C (p.Asp1420His)
c.2616G>C
n.745G>C
c.3675G>C
c.2889G>C
c.2924G>C
c.2906G>C
c.2740G>C (p.Asp914His)
c.801G>C
c.2163G>C (n.2163G>C)
c.2595G>C
c.2100G>C (n.2100G>C)
c.2552G>C
n.755G>C
c.2506G>C (p.Asp836His)
c.4354G>C (p.Asp1452His)
n.566G>C
n.2690G>C
n.2225G>C
c.331G>C (p.Asp111His)
n.2075G>C
c.4261G>C (p.Asp1421His)
n.4642G>C
 dbSNP
19g.11041388G=CA2322734846SMARCA4c.4348G= (p.Asp1450=)
c.4252G= (p.Asp1418=)
c.4153G= (p.Asp1385=)
c.419G=
c.379G= (p.Asp127=)
c.193G= (p.Asp65=)
n.2493G=
c.2746G= (p.Asp916=)
c.1709G=
c.4249G= (p.Asp1417=)
c.2809G= (p.Asp937=)
c.4162G= (p.Asp1388=)
c.2537G=
c.4258G= (p.Asp1420=)
c.2616G=
n.745G=
c.3675G=
c.2889G=
c.2924G=
c.2906G=
c.2740G= (p.Asp914=)
c.801G=
c.2163G= (n.2163G=)
c.2595G=
c.2100G= (n.2100G=)
c.2552G=
n.755G=
c.2506G= (p.Asp836=)
c.4354G= (p.Asp1452=)
n.566G=
n.2690G=
n.2225G=
c.331G= (p.Asp111=)
n.2075G=
c.4261G= (p.Asp1421=)
n.4642G=
19g.11041388G>TCA404073242SMARCA4c.4348G>T (p.Asp1450Tyr)
c.4252G>T (p.Asp1418Tyr)
c.4153G>T (p.Asp1385Tyr)
c.419G>T
c.379G>T (p.Asp127Tyr)
c.193G>T (p.Asp65Tyr)
n.2493G>T
c.2746G>T (p.Asp916Tyr)
c.1709G>T
c.4249G>T (p.Asp1417Tyr)
c.2809G>T (p.Asp937Tyr)
c.4162G>T (p.Asp1388Tyr)
c.2537G>T
c.4258G>T (p.Asp1420Tyr)
c.2616G>T
n.745G>T
c.3675G>T
c.2889G>T
c.2924G>T
c.2906G>T
c.2740G>T (p.Asp914Tyr)
c.801G>T
c.2163G>T (n.2163G>T)
c.2595G>T
c.2100G>T (n.2100G>T)
c.2552G>T
n.755G>T
c.2506G>T (p.Asp836Tyr)
c.4354G>T (p.Asp1452Tyr)
n.566G>T
n.2690G>T
n.2225G>T
c.331G>T (p.Asp111Tyr)
n.2075G>T
c.4261G>T (p.Asp1421Tyr)
n.4642G>T
 ClinVar dbSNP
19g.11041389A=CA2322734851SMARCA4c.4349A= (p.Asp1450=)
c.4253A= (p.Asp1418=)
c.4154A= (p.Asp1385=)
c.420A=
c.380A= (p.Asp127=)
c.194A= (p.Asp65=)
n.2494A=
c.2747A= (p.Asp916=)
c.1710A=
c.4250A= (p.Asp1417=)
c.2810A= (p.Asp937=)
c.4163A= (p.Asp1388=)
c.2538A=
c.4259A= (p.Asp1420=)
c.2617A=
n.746A=
c.3676A=
c.2890A=
c.2925A=
c.2907A=
c.2741A= (p.Asp914=)
c.802A=
c.2164A= (n.2164A=)
c.2596A=
c.2101A= (n.2101A=)
c.2553A=
n.756A=
c.2507A= (p.Asp836=)
c.4355A= (p.Asp1452=)
n.567A=
n.2691A=
n.2226A=
c.332A= (p.Asp111=)
n.2076A=
c.4262A= (p.Asp1421=)
n.4643A=
19g.11041389A>CCA404073249SMARCA4c.4349A>C (p.Asp1450Ala)
c.4253A>C (p.Asp1418Ala)
c.4154A>C (p.Asp1385Ala)
c.420A>C
c.380A>C (p.Asp127Ala)
c.194A>C (p.Asp65Ala)
n.2494A>C
c.2747A>C (p.Asp916Ala)
c.1710A>C
c.4250A>C (p.Asp1417Ala)
c.2810A>C (p.Asp937Ala)
c.4163A>C (p.Asp1388Ala)
c.2538A>C
c.4259A>C (p.Asp1420Ala)
c.2617A>C
n.746A>C
c.3676A>C
c.2890A>C
c.2925A>C
c.2907A>C
c.2741A>C (p.Asp914Ala)
c.802A>C
c.2164A>C (n.2164A>C)
c.2596A>C
c.2101A>C (n.2101A>C)
c.2553A>C
n.756A>C
c.2507A>C (p.Asp836Ala)
c.4355A>C (p.Asp1452Ala)
n.567A>C
n.2691A>C
n.2226A>C
c.332A>C (p.Asp111Ala)
n.2076A>C
c.4262A>C (p.Asp1421Ala)
n.4643A>C
19g.11041389A>GCA404073250SMARCA4c.4349A>G (p.Asp1450Gly)
c.4253A>G (p.Asp1418Gly)
c.4154A>G (p.Asp1385Gly)
c.420A>G
c.380A>G (p.Asp127Gly)
c.194A>G (p.Asp65Gly)
n.2494A>G
c.2747A>G (p.Asp916Gly)
c.1710A>G
c.4250A>G (p.Asp1417Gly)
c.2810A>G (p.Asp937Gly)
c.4163A>G (p.Asp1388Gly)
c.2538A>G
c.4259A>G (p.Asp1420Gly)
c.2617A>G
n.746A>G
c.3676A>G
c.2890A>G
c.2925A>G
c.2907A>G
c.2741A>G (p.Asp914Gly)
c.802A>G
c.2164A>G (n.2164A>G)
c.2596A>G
c.2101A>G (n.2101A>G)
c.2553A>G
n.756A>G
c.2507A>G (p.Asp836Gly)
c.4355A>G (p.Asp1452Gly)
n.567A>G
n.2691A>G
n.2226A>G
c.332A>G (p.Asp111Gly)
n.2076A>G
c.4262A>G (p.Asp1421Gly)
n.4643A>G
 ClinVar dbSNP
19g.11041389A>TCA404073248SMARCA4c.4349A>T (p.Asp1450Val)
c.4253A>T (p.Asp1418Val)
c.4154A>T (p.Asp1385Val)
c.420A>T
c.380A>T (p.Asp127Val)
c.194A>T (p.Asp65Val)
n.2494A>T
c.2747A>T (p.Asp916Val)
c.1710A>T
c.4250A>T (p.Asp1417Val)
c.2810A>T (p.Asp937Val)
c.4163A>T (p.Asp1388Val)
c.2538A>T
c.4259A>T (p.Asp1420Val)
c.2617A>T
n.746A>T
c.3676A>T
c.2890A>T
c.2925A>T
c.2907A>T
c.2741A>T (p.Asp914Val)
c.802A>T
c.2164A>T (n.2164A>T)
c.2596A>T
c.2101A>T (n.2101A>T)
c.2553A>T
n.756A>T
c.2507A>T (p.Asp836Val)
c.4355A>T (p.Asp1452Val)
n.567A>T
n.2691A>T
n.2226A>T
c.332A>T (p.Asp111Val)
n.2076A>T
c.4262A>T (p.Asp1421Val)
n.4643A>T
 dbSNP
19g.11041390C>ACA404073252SMARCA4c.4350C>A (p.Asp1450Glu)
c.4254C>A (p.Asp1418Glu)
c.4155C>A (p.Asp1385Glu)
c.421C>A
c.381C>A (p.Asp127Glu)
c.195C>A (p.Asp65Glu)
n.2495C>A
c.2748C>A (p.Asp916Glu)
c.1711C>A
c.4251C>A (p.Asp1417Glu)
c.2811C>A (p.Asp937Glu)
c.4164C>A (p.Asp1388Glu)
c.2539C>A
c.4260C>A (p.Asp1420Glu)
c.2618C>A
n.747C>A
c.3677C>A
c.2891C>A
c.2926C>A
c.2908C>A
c.2742C>A (p.Asp914Glu)
c.803C>A
c.2165C>A (n.2165C>A)
c.2597C>A
c.2102C>A (n.2102C>A)
c.2554C>A
n.757C>A
c.2508C>A (p.Asp836Glu)
c.4356C>A (p.Asp1452Glu)
n.568C>A
n.2692C>A
n.2227C>A
c.333C>A (p.Asp111Glu)
n.2077C>A
c.4263C>A (p.Asp1421Glu)
n.4644C>A
 ClinVar dbSNP
19g.11041390C=CA2322734855SMARCA4c.4350C= (p.Asp1450=)
c.4254C= (p.Asp1418=)
c.4155C= (p.Asp1385=)
c.421C=
c.381C= (p.Asp127=)
c.195C= (p.Asp65=)
n.2495C=
c.2748C= (p.Asp916=)
c.1711C=
c.4251C= (p.Asp1417=)
c.2811C= (p.Asp937=)
c.4164C= (p.Asp1388=)
c.2539C=
c.4260C= (p.Asp1420=)
c.2618C=
n.747C=
c.3677C=
c.2891C=
c.2926C=
c.2908C=
c.2742C= (p.Asp914=)
c.803C=
c.2165C= (n.2165C=)
c.2597C=
c.2102C= (n.2102C=)
c.2554C=
n.757C=
c.2508C= (p.Asp836=)
c.4356C= (p.Asp1452=)
n.568C=
n.2692C=
n.2227C=
c.333C= (p.Asp111=)
n.2077C=
c.4263C= (p.Asp1421=)
n.4644C=
19g.11041390C>GCA404073266SMARCA4c.4350C>G (p.Asp1450Glu)
c.4254C>G (p.Asp1418Glu)
c.4155C>G (p.Asp1385Glu)
c.421C>G
c.381C>G (p.Asp127Glu)
c.195C>G (p.Asp65Glu)
n.2495C>G
c.2748C>G (p.Asp916Glu)
c.1711C>G
c.4251C>G (p.Asp1417Glu)
c.2811C>G (p.Asp937Glu)
c.4164C>G (p.Asp1388Glu)
c.2539C>G
c.4260C>G (p.Asp1420Glu)
c.2618C>G
n.747C>G
c.3677C>G
c.2891C>G
c.2926C>G
c.2908C>G
c.2742C>G (p.Asp914Glu)
c.803C>G
c.2165C>G (n.2165C>G)
c.2597C>G
c.2102C>G (n.2102C>G)
c.2554C>G
n.757C>G
c.2508C>G (p.Asp836Glu)
c.4356C>G (p.Asp1452Glu)
n.568C>G
n.2692C>G
n.2227C>G
c.333C>G (p.Asp111Glu)
n.2077C>G
c.4263C>G (p.Asp1421Glu)
n.4644C>G
 dbSNP
19g.11041390C>TCA9204684SMARCA4c.4350C>T (p.Asp1450=)
c.4254C>T (p.Asp1418=)
c.4155C>T (p.Asp1385=)
c.421C>T
c.381C>T (p.Asp127=)
c.195C>T (p.Asp65=)
n.2495C>T
c.2748C>T (p.Asp916=)
c.1711C>T
c.4251C>T (p.Asp1417=)
c.2811C>T (p.Asp937=)
c.4164C>T (p.Asp1388=)
c.2539C>T
c.4260C>T (p.Asp1420=)
c.2618C>T
n.747C>T
c.3677C>T
c.2891C>T
c.2926C>T
c.2908C>T
c.2742C>T (p.Asp914=)
c.803C>T
c.2165C>T (n.2165C>T)
c.2597C>T
c.2102C>T (n.2102C>T)
c.2554C>T
n.757C>T
c.2508C>T (p.Asp836=)
c.4356C>T (p.Asp1452=)
n.568C>T
n.2692C>T
n.2227C>T
c.333C>T (p.Asp111=)
n.2077C>T
c.4263C>T (p.Asp1421=)
n.4644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041391G>ACA9204685SMARCA4c.4351G>A (p.Ala1451Thr)
c.4255G>A (p.Ala1419Thr)
c.4156G>A (p.Ala1386Thr)
c.422G>A
c.382G>A (p.Ala128Thr)
c.196G>A (p.Ala66Thr)
n.2496G>A
c.2749G>A (p.Ala917Thr)
c.1712G>A
c.4252G>A (p.Ala1418Thr)
c.2812G>A (p.Ala938Thr)
c.4165G>A (p.Ala1389Thr)
c.2540G>A
c.4261G>A (p.Ala1421Thr)
c.2619G>A
n.748G>A
c.3678G>A
c.2892G>A
c.2927G>A
c.2909G>A
c.2743G>A (p.Ala915Thr)
c.804G>A
c.2166G>A (n.2166G>A)
c.2598G>A
c.2103G>A (n.2103G>A)
c.2555G>A
n.758G>A
c.2509G>A (p.Ala837Thr)
c.4357G>A (p.Ala1453Thr)
n.569G>A
n.2693G>A
n.2228G>A
c.334G>A (p.Ala112Thr)
n.2078G>A
c.4264G>A (p.Ala1422Thr)
n.4645G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041391G>CCA404073273SMARCA4c.4351G>C (p.Ala1451Pro)
c.4255G>C (p.Ala1419Pro)
c.4156G>C (p.Ala1386Pro)
c.422G>C
c.382G>C (p.Ala128Pro)
c.196G>C (p.Ala66Pro)
n.2496G>C
c.2749G>C (p.Ala917Pro)
c.1712G>C
c.4252G>C (p.Ala1418Pro)
c.2812G>C (p.Ala938Pro)
c.4165G>C (p.Ala1389Pro)
c.2540G>C
c.4261G>C (p.Ala1421Pro)
c.2619G>C
n.748G>C
c.3678G>C
c.2892G>C
c.2927G>C
c.2909G>C
c.2743G>C (p.Ala915Pro)
c.804G>C
c.2166G>C (n.2166G>C)
c.2598G>C
c.2103G>C (n.2103G>C)
c.2555G>C
n.758G>C
c.2509G>C (p.Ala837Pro)
c.4357G>C (p.Ala1453Pro)
n.569G>C
n.2693G>C
n.2228G>C
c.334G>C (p.Ala112Pro)
n.2078G>C
c.4264G>C (p.Ala1422Pro)
n.4645G>C
19g.11041391G=CA2322734864SMARCA4c.4351G= (p.Ala1451=)
c.4255G= (p.Ala1419=)
c.4156G= (p.Ala1386=)
c.422G=
c.382G= (p.Ala128=)
c.196G= (p.Ala66=)
n.2496G=
c.2749G= (p.Ala917=)
c.1712G=
c.4252G= (p.Ala1418=)
c.2812G= (p.Ala938=)
c.4165G= (p.Ala1389=)
c.2540G=
c.4261G= (p.Ala1421=)
c.2619G=
n.748G=
c.3678G=
c.2892G=
c.2927G=
c.2909G=
c.2743G= (p.Ala915=)
c.804G=
c.2166G= (n.2166G=)
c.2598G=
c.2103G= (n.2103G=)
c.2555G=
n.758G=
c.2509G= (p.Ala837=)
c.4357G= (p.Ala1453=)
n.569G=
n.2693G=
n.2228G=
c.334G= (p.Ala112=)
n.2078G=
c.4264G= (p.Ala1422=)
n.4645G=
19g.11041391G>TCA404073276SMARCA4c.4351G>T (p.Ala1451Ser)
c.4255G>T (p.Ala1419Ser)
c.4156G>T (p.Ala1386Ser)
c.422G>T
c.382G>T (p.Ala128Ser)
c.196G>T (p.Ala66Ser)
n.2496G>T
c.2749G>T (p.Ala917Ser)
c.1712G>T
c.4252G>T (p.Ala1418Ser)
c.2812G>T (p.Ala938Ser)
c.4165G>T (p.Ala1389Ser)
c.2540G>T
c.4261G>T (p.Ala1421Ser)
c.2619G>T
n.748G>T
c.3678G>T
c.2892G>T
c.2927G>T
c.2909G>T
c.2743G>T (p.Ala915Ser)
c.804G>T
c.2166G>T (n.2166G>T)
c.2598G>T
c.2103G>T (n.2103G>T)
c.2555G>T
n.758G>T
c.2509G>T (p.Ala837Ser)
c.4357G>T (p.Ala1453Ser)
n.569G>T
n.2693G>T
n.2228G>T
c.334G>T (p.Ala112Ser)
n.2078G>T
c.4264G>T (p.Ala1422Ser)
n.4645G>T
 ClinVar
19g.11041392C>ACA404073283SMARCA4c.4352C>A (p.Ala1451Asp)
c.4256C>A (p.Ala1419Asp)
c.4157C>A (p.Ala1386Asp)
c.423C>A
c.383C>A (p.Ala128Asp)
c.197C>A (p.Ala66Asp)
n.2497C>A
c.2750C>A (p.Ala917Asp)
c.1713C>A
c.4253C>A (p.Ala1418Asp)
c.2813C>A (p.Ala938Asp)
c.4166C>A (p.Ala1389Asp)
c.2541C>A
c.4262C>A (p.Ala1421Asp)
c.2620C>A
n.749C>A
c.3679C>A
c.2893C>A
c.2928C>A
c.2910C>A
c.2744C>A (p.Ala915Asp)
c.805C>A
c.2167C>A (n.2167C>A)
c.2599C>A
c.2104C>A (n.2104C>A)
c.2556C>A
n.759C>A
c.2510C>A (p.Ala837Asp)
c.4358C>A (p.Ala1453Asp)
n.570C>A
n.2694C>A
n.2229C>A
c.335C>A (p.Ala112Asp)
n.2079C>A
c.4265C>A (p.Ala1422Asp)
n.4646C>A
19g.11041392C=CA2322734867SMARCA4c.4352C= (p.Ala1451=)
c.4256C= (p.Ala1419=)
c.4157C= (p.Ala1386=)
c.423C=
c.383C= (p.Ala128=)
c.197C= (p.Ala66=)
n.2497C=
c.2750C= (p.Ala917=)
c.1713C=
c.4253C= (p.Ala1418=)
c.2813C= (p.Ala938=)
c.4166C= (p.Ala1389=)
c.2541C=
c.4262C= (p.Ala1421=)
c.2620C=
n.749C=
c.3679C=
c.2893C=
c.2928C=
c.2910C=
c.2744C= (p.Ala915=)
c.805C=
c.2167C= (n.2167C=)
c.2599C=
c.2104C= (n.2104C=)
c.2556C=
n.759C=
c.2510C= (p.Ala837=)
c.4358C= (p.Ala1453=)
n.570C=
n.2694C=
n.2229C=
c.335C= (p.Ala112=)
n.2079C=
c.4265C= (p.Ala1422=)
n.4646C=
19g.11041392C>GCA404073286SMARCA4c.4352C>G (p.Ala1451Gly)
c.4256C>G (p.Ala1419Gly)
c.4157C>G (p.Ala1386Gly)
c.423C>G
c.383C>G (p.Ala128Gly)
c.197C>G (p.Ala66Gly)
n.2497C>G
c.2750C>G (p.Ala917Gly)
c.1713C>G
c.4253C>G (p.Ala1418Gly)
c.2813C>G (p.Ala938Gly)
c.4166C>G (p.Ala1389Gly)
c.2541C>G
c.4262C>G (p.Ala1421Gly)
c.2620C>G
n.749C>G
c.3679C>G
c.2893C>G
c.2928C>G
c.2910C>G
c.2744C>G (p.Ala915Gly)
c.805C>G
c.2167C>G (n.2167C>G)
c.2599C>G
c.2104C>G (n.2104C>G)
c.2556C>G
n.759C>G
c.2510C>G (p.Ala837Gly)
c.4358C>G (p.Ala1453Gly)
n.570C>G
n.2694C>G
n.2229C>G
c.335C>G (p.Ala112Gly)
n.2079C>G
c.4265C>G (p.Ala1422Gly)
n.4646C>G
19g.11041392C>TCA404073291SMARCA4c.4352C>T (p.Ala1451Val)
c.4256C>T (p.Ala1419Val)
c.4157C>T (p.Ala1386Val)
c.423C>T
c.383C>T (p.Ala128Val)
c.197C>T (p.Ala66Val)
n.2497C>T
c.2750C>T (p.Ala917Val)
c.1713C>T
c.4253C>T (p.Ala1418Val)
c.2813C>T (p.Ala938Val)
c.4166C>T (p.Ala1389Val)
c.2541C>T
c.4262C>T (p.Ala1421Val)
c.2620C>T
n.749C>T
c.3679C>T
c.2893C>T
c.2928C>T
c.2910C>T
c.2744C>T (p.Ala915Val)
c.805C>T
c.2167C>T (n.2167C>T)
c.2599C>T
c.2104C>T (n.2104C>T)
c.2556C>T
n.759C>T
c.2510C>T (p.Ala837Val)
c.4358C>T (p.Ala1453Val)
n.570C>T
n.2694C>T
n.2229C>T
c.335C>T (p.Ala112Val)
n.2079C>T
c.4265C>T (p.Ala1422Val)
n.4646C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11041393C>ACA505743827SMARCA4c.4353C>A (p.Ala1451=)
c.4257C>A (p.Ala1419=)
c.4158C>A (p.Ala1386=)
c.424C>A
c.384C>A (p.Ala128=)
c.198C>A (p.Ala66=)
n.2498C>A
c.2751C>A (p.Ala917=)
c.1714C>A
c.4254C>A (p.Ala1418=)
c.2814C>A (p.Ala938=)
c.4167C>A (p.Ala1389=)
c.2542C>A
c.4263C>A (p.Ala1421=)
c.2621C>A
n.750C>A
c.3680C>A
c.2894C>A
c.2929C>A
c.2911C>A
c.2745C>A (p.Ala915=)
c.806C>A
c.2168C>A (n.2168C>A)
c.2600C>A
c.2105C>A (n.2105C>A)
c.2557C>A
n.760C>A
c.2511C>A (p.Ala837=)
c.4359C>A (p.Ala1453=)
n.571C>A
n.2695C>A
n.2230C>A
c.336C>A (p.Ala112=)
n.2080C>A
c.4266C>A (p.Ala1422=)
n.4647C>A
19g.11041393C=CA2322734872SMARCA4c.4353C= (p.Ala1451=)
c.4257C= (p.Ala1419=)
c.4158C= (p.Ala1386=)
c.424C=
c.384C= (p.Ala128=)
c.198C= (p.Ala66=)
n.2498C=
c.2751C= (p.Ala917=)
c.1714C=
c.4254C= (p.Ala1418=)
c.2814C= (p.Ala938=)
c.4167C= (p.Ala1389=)
c.2542C=
c.4263C= (p.Ala1421=)
c.2621C=
n.750C=
c.3680C=
c.2894C=
c.2929C=
c.2911C=
c.2745C= (p.Ala915=)
c.806C=
c.2168C= (n.2168C=)
c.2600C=
c.2105C= (n.2105C=)
c.2557C=
n.760C=
c.2511C= (p.Ala837=)
c.4359C= (p.Ala1453=)
n.571C=
n.2695C=
n.2230C=
c.336C= (p.Ala112=)
n.2080C=
c.4266C= (p.Ala1422=)
n.4647C=
19g.11041393C>GCA505743828SMARCA4c.4353C>G (p.Ala1451=)
c.4257C>G (p.Ala1419=)
c.4158C>G (p.Ala1386=)
c.424C>G
c.384C>G (p.Ala128=)
c.198C>G (p.Ala66=)
n.2498C>G
c.2751C>G (p.Ala917=)
c.1714C>G
c.4254C>G (p.Ala1418=)
c.2814C>G (p.Ala938=)
c.4167C>G (p.Ala1389=)
c.2542C>G
c.4263C>G (p.Ala1421=)
c.2621C>G
n.750C>G
c.3680C>G
c.2894C>G
c.2929C>G
c.2911C>G
c.2745C>G (p.Ala915=)
c.806C>G
c.2168C>G (n.2168C>G)
c.2600C>G
c.2105C>G (n.2105C>G)
c.2557C>G
n.760C>G
c.2511C>G (p.Ala837=)
c.4359C>G (p.Ala1453=)
n.571C>G
n.2695C>G
n.2230C>G
c.336C>G (p.Ala112=)
n.2080C>G
c.4266C>G (p.Ala1422=)
n.4647C>G
 dbSNP
19g.11041393C>TCA9204686SMARCA4c.4353C>T (p.Ala1451=)
c.4257C>T (p.Ala1419=)
c.4158C>T (p.Ala1386=)
c.424C>T
c.384C>T (p.Ala128=)
c.198C>T (p.Ala66=)
n.2498C>T
c.2751C>T (p.Ala917=)
c.1714C>T
c.4254C>T (p.Ala1418=)
c.2814C>T (p.Ala938=)
c.4167C>T (p.Ala1389=)
c.2542C>T
c.4263C>T (p.Ala1421=)
c.2621C>T
n.750C>T
c.3680C>T
c.2894C>T
c.2929C>T
c.2911C>T
c.2745C>T (p.Ala915=)
c.806C>T
c.2168C>T (n.2168C>T)
c.2600C>T
c.2105C>T (n.2105C>T)
c.2557C>T
n.760C>T
c.2511C>T (p.Ala837=)
c.4359C>T (p.Ala1453=)
n.571C>T
n.2695C>T
n.2230C>T
c.336C>T (p.Ala112=)
n.2080C>T
c.4266C>T (p.Ala1422=)
n.4647C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041394G>ACA9204687SMARCA4c.4354G>A (p.Gly1452Ser)
c.4258G>A (p.Gly1420Ser)
c.4159G>A (p.Gly1387Ser)
c.425G>A
c.385G>A (p.Gly129Ser)
c.199G>A (p.Gly67Ser)
n.2499G>A
c.2752G>A (p.Gly918Ser)
c.1715G>A
c.4255G>A (p.Gly1419Ser)
c.2815G>A (p.Gly939Ser)
c.4168G>A (p.Gly1390Ser)
c.2543G>A
c.4264G>A (p.Gly1422Ser)
c.2622G>A
n.751G>A
c.3681G>A
c.2895G>A
c.2930G>A
c.2912G>A
c.2746G>A (p.Gly916Ser)
c.807G>A
c.2169G>A (n.2169G>A)
c.2601G>A
c.2106G>A (n.2106G>A)
c.2558G>A
n.761G>A
c.2512G>A (p.Gly838Ser)
c.4360G>A (p.Gly1454Ser)
n.572G>A
n.2696G>A
n.2231G>A
c.337G>A (p.Gly113Ser)
n.2081G>A
c.4267G>A (p.Gly1423Ser)
n.4648G>A
 ClinVar dbSNP ExAC gnomAD v4
19g.11041394G>CCA404073302SMARCA4c.4354G>C (p.Gly1452Arg)
c.4258G>C (p.Gly1420Arg)
c.4159G>C (p.Gly1387Arg)
c.425G>C
c.385G>C (p.Gly129Arg)
c.199G>C (p.Gly67Arg)
n.2499G>C
c.2752G>C (p.Gly918Arg)
c.1715G>C
c.4255G>C (p.Gly1419Arg)
c.2815G>C (p.Gly939Arg)
c.4168G>C (p.Gly1390Arg)
c.2543G>C
c.4264G>C (p.Gly1422Arg)
c.2622G>C
n.751G>C
c.3681G>C
c.2895G>C
c.2930G>C
c.2912G>C
c.2746G>C (p.Gly916Arg)
c.807G>C
c.2169G>C (n.2169G>C)
c.2601G>C
c.2106G>C (n.2106G>C)
c.2558G>C
n.761G>C
c.2512G>C (p.Gly838Arg)
c.4360G>C (p.Gly1454Arg)
n.572G>C
n.2696G>C
n.2231G>C
c.337G>C (p.Gly113Arg)
n.2081G>C
c.4267G>C (p.Gly1423Arg)
n.4648G>C
 dbSNP
19g.11041394G=CA2322734880SMARCA4c.4354G= (p.Gly1452=)
c.4258G= (p.Gly1420=)
c.4159G= (p.Gly1387=)
c.425G=
c.385G= (p.Gly129=)
c.199G= (p.Gly67=)
n.2499G=
c.2752G= (p.Gly918=)
c.1715G=
c.4255G= (p.Gly1419=)
c.2815G= (p.Gly939=)
c.4168G= (p.Gly1390=)
c.2543G=
c.4264G= (p.Gly1422=)
c.2622G=
n.751G=
c.3681G=
c.2895G=
c.2930G=
c.2912G=
c.2746G= (p.Gly916=)
c.807G=
c.2169G= (n.2169G=)
c.2601G=
c.2106G= (n.2106G=)
c.2558G=
n.761G=
c.2512G= (p.Gly838=)
c.4360G= (p.Gly1454=)
n.572G=
n.2696G=
n.2231G=
c.337G= (p.Gly113=)
n.2081G=
c.4267G= (p.Gly1423=)
n.4648G=
19g.11041394G>TCA404073305SMARCA4c.4354G>T (p.Gly1452Cys)
c.4258G>T (p.Gly1420Cys)
c.4159G>T (p.Gly1387Cys)
c.425G>T
c.385G>T (p.Gly129Cys)
c.199G>T (p.Gly67Cys)
n.2499G>T
c.2752G>T (p.Gly918Cys)
c.1715G>T
c.4255G>T (p.Gly1419Cys)
c.2815G>T (p.Gly939Cys)
c.4168G>T (p.Gly1390Cys)
c.2543G>T
c.4264G>T (p.Gly1422Cys)
c.2622G>T
n.751G>T
c.3681G>T
c.2895G>T
c.2930G>T
c.2912G>T
c.2746G>T (p.Gly916Cys)
c.807G>T
c.2169G>T (n.2169G>T)
c.2601G>T
c.2106G>T (n.2106G>T)
c.2558G>T
n.761G>T
c.2512G>T (p.Gly838Cys)
c.4360G>T (p.Gly1454Cys)
n.572G>T
n.2696G>T
n.2231G>T
c.337G>T (p.Gly113Cys)
n.2081G>T
c.4267G>T (p.Gly1423Cys)
n.4648G>T
19g.11041395G>ACA404073312SMARCA4c.4355G>A (p.Gly1452Asp)
c.4259G>A (p.Gly1420Asp)
c.4160G>A (p.Gly1387Asp)
c.426G>A
c.386G>A (p.Gly129Asp)
c.200G>A (p.Gly67Asp)
n.2500G>A
c.2753G>A (p.Gly918Asp)
c.1716G>A
c.4256G>A (p.Gly1419Asp)
c.2816G>A (p.Gly939Asp)
c.4169G>A (p.Gly1390Asp)
c.2544G>A
c.4265G>A (p.Gly1422Asp)
c.2623G>A
n.752G>A
c.3682G>A
c.2896G>A
c.2931G>A
c.2913G>A
c.2747G>A (p.Gly916Asp)
c.808G>A
c.2170G>A (n.2170G>A)
c.2602G>A
c.2107G>A (n.2107G>A)
c.2559G>A
n.762G>A
c.2513G>A (p.Gly838Asp)
c.4361G>A (p.Gly1454Asp)
n.573G>A
n.2697G>A
n.2232G>A
c.338G>A (p.Gly113Asp)
n.2082G>A
c.4268G>A (p.Gly1423Asp)
n.4649G>A
 ClinVar dbSNP
19g.11041395G>CCA404073316SMARCA4c.4355G>C (p.Gly1452Ala)
c.4259G>C (p.Gly1420Ala)
c.4160G>C (p.Gly1387Ala)
c.426G>C
c.386G>C (p.Gly129Ala)
c.200G>C (p.Gly67Ala)
n.2500G>C
c.2753G>C (p.Gly918Ala)
c.1716G>C
c.4256G>C (p.Gly1419Ala)
c.2816G>C (p.Gly939Ala)
c.4169G>C (p.Gly1390Ala)
c.2544G>C
c.4265G>C (p.Gly1422Ala)
c.2623G>C
n.752G>C
c.3682G>C
c.2896G>C
c.2931G>C
c.2913G>C
c.2747G>C (p.Gly916Ala)
c.808G>C
c.2170G>C (n.2170G>C)
c.2602G>C
c.2107G>C (n.2107G>C)
c.2559G>C
n.762G>C
c.2513G>C (p.Gly838Ala)
c.4361G>C (p.Gly1454Ala)
n.573G>C
n.2697G>C
n.2232G>C
c.338G>C (p.Gly113Ala)
n.2082G>C
c.4268G>C (p.Gly1423Ala)
n.4649G>C
 ClinVar dbSNP
19g.11041395G=CA2322734884SMARCA4c.4355G= (p.Gly1452=)
c.4259G= (p.Gly1420=)
c.4160G= (p.Gly1387=)
c.426G=
c.386G= (p.Gly129=)
c.200G= (p.Gly67=)
n.2500G=
c.2753G= (p.Gly918=)
c.1716G=
c.4256G= (p.Gly1419=)
c.2816G= (p.Gly939=)
c.4169G= (p.Gly1390=)
c.2544G=
c.4265G= (p.Gly1422=)
c.2623G=
n.752G=
c.3682G=
c.2896G=
c.2931G=
c.2913G=
c.2747G= (p.Gly916=)
c.808G=
c.2170G= (n.2170G=)
c.2602G=
c.2107G= (n.2107G=)
c.2559G=
n.762G=
c.2513G= (p.Gly838=)
c.4361G= (p.Gly1454=)
n.573G=
n.2697G=
n.2232G=
c.338G= (p.Gly113=)
n.2082G=
c.4268G= (p.Gly1423=)
n.4649G=
19g.11041395G>TCA404073318SMARCA4c.4355G>T (p.Gly1452Val)
c.4259G>T (p.Gly1420Val)
c.4160G>T (p.Gly1387Val)
c.426G>T
c.386G>T (p.Gly129Val)
c.200G>T (p.Gly67Val)
n.2500G>T
c.2753G>T (p.Gly918Val)
c.1716G>T
c.4256G>T (p.Gly1419Val)
c.2816G>T (p.Gly939Val)
c.4169G>T (p.Gly1390Val)
c.2544G>T
c.4265G>T (p.Gly1422Val)
c.2623G>T
n.752G>T
c.3682G>T
c.2896G>T
c.2931G>T
c.2913G>T
c.2747G>T (p.Gly916Val)
c.808G>T
c.2170G>T (n.2170G>T)
c.2602G>T
c.2107G>T (n.2107G>T)
c.2559G>T
n.762G>T
c.2513G>T (p.Gly838Val)
c.4361G>T (p.Gly1454Val)
n.573G>T
n.2697G>T
n.2232G>T
c.338G>T (p.Gly113Val)
n.2082G>T
c.4268G>T (p.Gly1423Val)
n.4649G>T
 ClinVar dbSNP
19g.11041396C>ACA505743830SMARCA4c.4356C>A (p.Gly1452=)
c.4260C>A (p.Gly1420=)
c.4161C>A (p.Gly1387=)
c.427C>A
c.387C>A (p.Gly129=)
c.201C>A (p.Gly67=)
n.2501C>A
c.2754C>A (p.Gly918=)
c.1717C>A
c.4257C>A (p.Gly1419=)
c.2817C>A (p.Gly939=)
c.4170C>A (p.Gly1390=)
c.2545C>A
c.4266C>A (p.Gly1422=)
c.2624C>A
n.753C>A
c.3683C>A
c.2897C>A
c.2932C>A
c.2914C>A
c.2748C>A (p.Gly916=)
c.809C>A
c.2171C>A (n.2171C>A)
c.2603C>A
c.2108C>A (n.2108C>A)
c.2560C>A
n.763C>A
c.2514C>A (p.Gly838=)
c.4362C>A (p.Gly1454=)
n.574C>A
n.2698C>A
n.2233C>A
c.339C>A (p.Gly113=)
n.2083C>A
c.4269C>A (p.Gly1423=)
n.4650C>A
 dbSNP
19g.11041396C=CA2322734885SMARCA4c.4356C= (p.Gly1452=)
c.4260C= (p.Gly1420=)
c.4161C= (p.Gly1387=)
c.427C=
c.387C= (p.Gly129=)
c.201C= (p.Gly67=)
n.2501C=
c.2754C= (p.Gly918=)
c.1717C=
c.4257C= (p.Gly1419=)
c.2817C= (p.Gly939=)
c.4170C= (p.Gly1390=)
c.2545C=
c.4266C= (p.Gly1422=)
c.2624C=
n.753C=
c.3683C=
c.2897C=
c.2932C=
c.2914C=
c.2748C= (p.Gly916=)
c.809C=
c.2171C= (n.2171C=)
c.2603C=
c.2108C= (n.2108C=)
c.2560C=
n.763C=
c.2514C= (p.Gly838=)
c.4362C= (p.Gly1454=)
n.574C=
n.2698C=
n.2233C=
c.339C= (p.Gly113=)
n.2083C=
c.4269C= (p.Gly1423=)
n.4650C=
19g.11041396C>GCA505743829SMARCA4c.4356C>G (p.Gly1452=)
c.4260C>G (p.Gly1420=)
c.4161C>G (p.Gly1387=)
c.427C>G
c.387C>G (p.Gly129=)
c.201C>G (p.Gly67=)
n.2501C>G
c.2754C>G (p.Gly918=)
c.1717C>G
c.4257C>G (p.Gly1419=)
c.2817C>G (p.Gly939=)
c.4170C>G (p.Gly1390=)
c.2545C>G
c.4266C>G (p.Gly1422=)
c.2624C>G
n.753C>G
c.3683C>G
c.2897C>G
c.2932C>G
c.2914C>G
c.2748C>G (p.Gly916=)
c.809C>G
c.2171C>G (n.2171C>G)
c.2603C>G
c.2108C>G (n.2108C>G)
c.2560C>G
n.763C>G
c.2514C>G (p.Gly838=)
c.4362C>G (p.Gly1454=)
n.574C>G
n.2698C>G
n.2233C>G
c.339C>G (p.Gly113=)
n.2083C>G
c.4269C>G (p.Gly1423=)
n.4650C>G
 dbSNP
19g.11041396C>TCA305294352SMARCA4c.4356C>T (p.Gly1452=)
c.4260C>T (p.Gly1420=)
c.4161C>T (p.Gly1387=)
c.427C>T
c.387C>T (p.Gly129=)
c.201C>T (p.Gly67=)
n.2501C>T
c.2754C>T (p.Gly918=)
c.1717C>T
c.4257C>T (p.Gly1419=)
c.2817C>T (p.Gly939=)
c.4170C>T (p.Gly1390=)
c.2545C>T
c.4266C>T (p.Gly1422=)
c.2624C>T
n.753C>T
c.3683C>T
c.2897C>T
c.2932C>T
c.2914C>T
c.2748C>T (p.Gly916=)
c.809C>T
c.2171C>T (n.2171C>T)
c.2603C>T
c.2108C>T (n.2108C>T)
c.2560C>T
n.763C>T
c.2514C>T (p.Gly838=)
c.4362C>T (p.Gly1454=)
n.574C>T
n.2698C>T
n.2233C>T
c.339C>T (p.Gly113=)
n.2083C>T
c.4269C>T (p.Gly1423=)
n.4650C>T
 ClinVar dbSNP gnomAD v4
19g.11041397T>ACA404073334SMARCA4c.4357T>A (p.Ser1453Thr)
c.4261T>A (p.Ser1421Thr)
c.4162T>A (p.Ser1388Thr)
c.428T>A
c.388T>A (p.Ser130Thr)
c.202T>A (p.Ser68Thr)
n.2502T>A
c.2755T>A (p.Ser919Thr)
c.1718T>A
c.4258T>A (p.Ser1420Thr)
c.2818T>A (p.Ser940Thr)
c.4171T>A (p.Ser1391Thr)
c.2546T>A
c.4267T>A (p.Ser1423Thr)
c.2625T>A
n.754T>A
c.3684T>A
c.2898T>A
c.2933T>A
c.2915T>A
c.2749T>A (p.Ser917Thr)
c.810T>A
c.2172T>A (n.2172T>A)
c.2604T>A
c.2109T>A (n.2109T>A)
c.2561T>A
n.764T>A
c.2515T>A (p.Ser839Thr)
c.4363T>A (p.Ser1455Thr)
n.575T>A
n.2699T>A
n.2234T>A
c.340T>A (p.Ser114Thr)
n.2084T>A
c.4270T>A (p.Ser1424Thr)
n.4651T>A
 dbSNP
19g.11041397T>CCA404073337SMARCA4c.4357T>C (p.Ser1453Pro)
c.4261T>C (p.Ser1421Pro)
c.4162T>C (p.Ser1388Pro)
c.428T>C
c.388T>C (p.Ser130Pro)
c.202T>C (p.Ser68Pro)
n.2502T>C
c.2755T>C (p.Ser919Pro)
c.1718T>C
c.4258T>C (p.Ser1420Pro)
c.2818T>C (p.Ser940Pro)
c.4171T>C (p.Ser1391Pro)
c.2546T>C
c.4267T>C (p.Ser1423Pro)
c.2625T>C
n.754T>C
c.3684T>C
c.2898T>C
c.2933T>C
c.2915T>C
c.2749T>C (p.Ser917Pro)
c.810T>C
c.2172T>C (n.2172T>C)
c.2604T>C
c.2109T>C (n.2109T>C)
c.2561T>C
n.764T>C
c.2515T>C (p.Ser839Pro)
c.4363T>C (p.Ser1455Pro)
n.575T>C
n.2699T>C
n.2234T>C
c.340T>C (p.Ser114Pro)
n.2084T>C
c.4270T>C (p.Ser1424Pro)
n.4651T>C
 ClinVar dbSNP
19g.11041397T>GCA404073341SMARCA4c.4357T>G (p.Ser1453Ala)
c.4261T>G (p.Ser1421Ala)
c.4162T>G (p.Ser1388Ala)
c.428T>G
c.388T>G (p.Ser130Ala)
c.202T>G (p.Ser68Ala)
n.2502T>G
c.2755T>G (p.Ser919Ala)
c.1718T>G
c.4258T>G (p.Ser1420Ala)
c.2818T>G (p.Ser940Ala)
c.4171T>G (p.Ser1391Ala)
c.2546T>G
c.4267T>G (p.Ser1423Ala)
c.2625T>G
n.754T>G
c.3684T>G
c.2898T>G
c.2933T>G
c.2915T>G
c.2749T>G (p.Ser917Ala)
c.810T>G
c.2172T>G (n.2172T>G)
c.2604T>G
c.2109T>G (n.2109T>G)
c.2561T>G
n.764T>G
c.2515T>G (p.Ser839Ala)
c.4363T>G (p.Ser1455Ala)
n.575T>G
n.2699T>G
n.2234T>G
c.340T>G (p.Ser114Ala)
n.2084T>G
c.4270T>G (p.Ser1424Ala)
n.4651T>G
19g.11041398C>ACA404073345SMARCA4c.4358C>A (p.Ser1453Tyr)
c.4262C>A (p.Ser1421Tyr)
c.4163C>A (p.Ser1388Tyr)
c.429C>A
c.389C>A (p.Ser130Tyr)
c.203C>A (p.Ser68Tyr)
n.2503C>A
c.2756C>A (p.Ser919Tyr)
c.1719C>A
c.4259C>A (p.Ser1420Tyr)
c.2819C>A (p.Ser940Tyr)
c.4172C>A (p.Ser1391Tyr)
c.2547C>A
c.4268C>A (p.Ser1423Tyr)
c.2626C>A
n.755C>A
c.3685C>A
c.2899C>A
c.2934C>A
c.2916C>A
c.2750C>A (p.Ser917Tyr)
c.811C>A
c.2173C>A (n.2173C>A)
c.2605C>A
c.2110C>A (n.2110C>A)
c.2562C>A
n.765C>A
c.2516C>A (p.Ser839Tyr)
c.4364C>A (p.Ser1455Tyr)
n.576C>A
n.2700C>A
n.2235C>A
c.341C>A (p.Ser114Tyr)
n.2085C>A
c.4271C>A (p.Ser1424Tyr)
n.4652C>A
 gnomAD v4
19g.11041398C=CA2322734887SMARCA4c.4358C= (p.Ser1453=)
c.4262C= (p.Ser1421=)
c.4163C= (p.Ser1388=)
c.429C=
c.389C= (p.Ser130=)
c.203C= (p.Ser68=)
n.2503C=
c.2756C= (p.Ser919=)
c.1719C=
c.4259C= (p.Ser1420=)
c.2819C= (p.Ser940=)
c.4172C= (p.Ser1391=)
c.2547C=
c.4268C= (p.Ser1423=)
c.2626C=
n.755C=
c.3685C=
c.2899C=
c.2934C=
c.2916C=
c.2750C= (p.Ser917=)
c.811C=
c.2173C= (n.2173C=)
c.2605C=
c.2110C= (n.2110C=)
c.2562C=
n.765C=
c.2516C= (p.Ser839=)
c.4364C= (p.Ser1455=)
n.576C=
n.2700C=
n.2235C=
c.341C= (p.Ser114=)
n.2085C=
c.4271C= (p.Ser1424=)
n.4652C=
19g.11041398C>GCA404073364SMARCA4c.4358C>G (p.Ser1453Cys)
c.4262C>G (p.Ser1421Cys)
c.4163C>G (p.Ser1388Cys)
c.429C>G
c.389C>G (p.Ser130Cys)
c.203C>G (p.Ser68Cys)
n.2503C>G
c.2756C>G (p.Ser919Cys)
c.1719C>G
c.4259C>G (p.Ser1420Cys)
c.2819C>G (p.Ser940Cys)
c.4172C>G (p.Ser1391Cys)
c.2547C>G
c.4268C>G (p.Ser1423Cys)
c.2626C>G
n.755C>G
c.3685C>G
c.2899C>G
c.2934C>G
c.2916C>G
c.2750C>G (p.Ser917Cys)
c.811C>G
c.2173C>G (n.2173C>G)
c.2605C>G
c.2110C>G (n.2110C>G)
c.2562C>G
n.765C>G
c.2516C>G (p.Ser839Cys)
c.4364C>G (p.Ser1455Cys)
n.576C>G
n.2700C>G
n.2235C>G
c.341C>G (p.Ser114Cys)
n.2085C>G
c.4271C>G (p.Ser1424Cys)
n.4652C>G
 dbSNP
19g.11041398C>TCA9204688SMARCA4c.4358C>T (p.Ser1453Phe)
c.4262C>T (p.Ser1421Phe)
c.4163C>T (p.Ser1388Phe)
c.429C>T
c.389C>T (p.Ser130Phe)
c.203C>T (p.Ser68Phe)
n.2503C>T
c.2756C>T (p.Ser919Phe)
c.1719C>T
c.4259C>T (p.Ser1420Phe)
c.2819C>T (p.Ser940Phe)
c.4172C>T (p.Ser1391Phe)
c.2547C>T
c.4268C>T (p.Ser1423Phe)
c.2626C>T
n.755C>T
c.3685C>T
c.2899C>T
c.2934C>T
c.2916C>T
c.2750C>T (p.Ser917Phe)
c.811C>T
c.2173C>T (n.2173C>T)
c.2605C>T
c.2110C>T (n.2110C>T)
c.2562C>T
n.765C>T
c.2516C>T (p.Ser839Phe)
c.4364C>T (p.Ser1455Phe)
n.576C>T
n.2700C>T
n.2235C>T
c.341C>T (p.Ser114Phe)
n.2085C>T
c.4271C>T (p.Ser1424Phe)
n.4652C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11041399C>ACA505743831SMARCA4c.4359C>A (p.Ser1453=)
c.4263C>A (p.Ser1421=)
c.4164C>A (p.Ser1388=)
c.430C>A
c.390C>A (p.Ser130=)
c.204C>A (p.Ser68=)
n.2504C>A
c.2757C>A (p.Ser919=)
c.1720C>A
c.4260C>A (p.Ser1420=)
c.2820C>A (p.Ser940=)
c.4173C>A (p.Ser1391=)
c.2548C>A
c.4269C>A (p.Ser1423=)
c.2627C>A
n.756C>A
c.3686C>A
c.2900C>A
c.2935C>A
c.2917C>A
c.2751C>A (p.Ser917=)
c.812C>A
c.2174C>A (n.2174C>A)
c.2606C>A
c.2111C>A (n.2111C>A)
c.2563C>A
n.766C>A
c.2517C>A (p.Ser839=)
c.4365C>A (p.Ser1455=)
n.577C>A
n.2701C>A
n.2236C>A
c.342C>A (p.Ser114=)
n.2086C>A
c.4272C>A (p.Ser1424=)
n.4653C>A
19g.11041399C>GCA505743832SMARCA4c.4359C>G (p.Ser1453=)
c.4263C>G (p.Ser1421=)
c.4164C>G (p.Ser1388=)
c.430C>G
c.390C>G (p.Ser130=)
c.204C>G (p.Ser68=)
n.2504C>G
c.2757C>G (p.Ser919=)
c.1720C>G
c.4260C>G (p.Ser1420=)
c.2820C>G (p.Ser940=)
c.4173C>G (p.Ser1391=)
c.2548C>G
c.4269C>G (p.Ser1423=)
c.2627C>G
n.756C>G
c.3686C>G
c.2900C>G
c.2935C>G
c.2917C>G
c.2751C>G (p.Ser917=)
c.812C>G
c.2174C>G (n.2174C>G)
c.2606C>G
c.2111C>G (n.2111C>G)
c.2563C>G
n.766C>G
c.2517C>G (p.Ser839=)
c.4365C>G (p.Ser1455=)
n.577C>G
n.2701C>G
n.2236C>G
c.342C>G (p.Ser114=)
n.2086C>G
c.4272C>G (p.Ser1424=)
n.4653C>G
19g.11041399C>TCA505743833SMARCA4c.4359C>T (p.Ser1453=)
c.4263C>T (p.Ser1421=)
c.4164C>T (p.Ser1388=)
c.430C>T
c.390C>T (p.Ser130=)
c.204C>T (p.Ser68=)
n.2504C>T
c.2757C>T (p.Ser919=)
c.1720C>T
c.4260C>T (p.Ser1420=)
c.2820C>T (p.Ser940=)
c.4173C>T (p.Ser1391=)
c.2548C>T
c.4269C>T (p.Ser1423=)
c.2627C>T
n.756C>T
c.3686C>T
c.2900C>T
c.2935C>T
c.2917C>T
c.2751C>T (p.Ser917=)
c.812C>T
c.2174C>T (n.2174C>T)
c.2606C>T
c.2111C>T (n.2111C>T)
c.2563C>T
n.766C>T
c.2517C>T (p.Ser839=)
c.4365C>T (p.Ser1455=)
n.577C>T
n.2701C>T
n.2236C>T
c.342C>T (p.Ser114=)
n.2086C>T
c.4272C>T (p.Ser1424=)
n.4653C>T
 ClinVar dbSNP
19g.11041400T>ACA404073370SMARCA4c.4360T>A (p.Ser1454Thr)
c.4264T>A (p.Ser1422Thr)
c.4165T>A (p.Ser1389Thr)
c.431T>A
c.391T>A (p.Ser131Thr)
c.205T>A (p.Ser69Thr)
n.2505T>A
c.2758T>A (p.Ser920Thr)
c.1721T>A
c.4261T>A (p.Ser1421Thr)
c.2821T>A (p.Ser941Thr)
c.4174T>A (p.Ser1392Thr)
c.2549T>A
c.4270T>A (p.Ser1424Thr)
c.2628T>A
n.757T>A
c.3687T>A
c.2901T>A
c.2936T>A
c.2918T>A
c.2752T>A (p.Ser918Thr)
c.813T>A
c.2175T>A (n.2175T>A)
c.2607T>A
c.2112T>A (n.2112T>A)
c.2564T>A
n.767T>A
c.2518T>A (p.Ser840Thr)
c.4366T>A (p.Ser1456Thr)
n.578T>A
n.2702T>A
n.2237T>A
c.343T>A (p.Ser115Thr)
n.2087T>A
c.4273T>A (p.Ser1425Thr)
n.4654T>A
19g.11041400T>CCA404073374SMARCA4c.4360T>C (p.Ser1454Pro)
c.4264T>C (p.Ser1422Pro)
c.4165T>C (p.Ser1389Pro)
c.431T>C
c.391T>C (p.Ser131Pro)
c.205T>C (p.Ser69Pro)
n.2505T>C
c.2758T>C (p.Ser920Pro)
c.1721T>C
c.4261T>C (p.Ser1421Pro)
c.2821T>C (p.Ser941Pro)
c.4174T>C (p.Ser1392Pro)
c.2549T>C
c.4270T>C (p.Ser1424Pro)
c.2628T>C
n.757T>C
c.3687T>C
c.2901T>C
c.2936T>C
c.2918T>C
c.2752T>C (p.Ser918Pro)
c.813T>C
c.2175T>C (n.2175T>C)
c.2607T>C
c.2112T>C (n.2112T>C)
c.2564T>C
n.767T>C
c.2518T>C (p.Ser840Pro)
c.4366T>C (p.Ser1456Pro)
n.578T>C
n.2702T>C
n.2237T>C
c.343T>C (p.Ser115Pro)
n.2087T>C
c.4273T>C (p.Ser1425Pro)
n.4654T>C
19g.11041400T>GCA404073378SMARCA4c.4360T>G (p.Ser1454Ala)
c.4264T>G (p.Ser1422Ala)
c.4165T>G (p.Ser1389Ala)
c.431T>G
c.391T>G (p.Ser131Ala)
c.205T>G (p.Ser69Ala)
n.2505T>G
c.2758T>G (p.Ser920Ala)
c.1721T>G
c.4261T>G (p.Ser1421Ala)
c.2821T>G (p.Ser941Ala)
c.4174T>G (p.Ser1392Ala)
c.2549T>G
c.4270T>G (p.Ser1424Ala)
c.2628T>G
n.757T>G
c.3687T>G
c.2901T>G
c.2936T>G
c.2918T>G
c.2752T>G (p.Ser918Ala)
c.813T>G
c.2175T>G (n.2175T>G)
c.2607T>G
c.2112T>G (n.2112T>G)
c.2564T>G
n.767T>G
c.2518T>G (p.Ser840Ala)
c.4366T>G (p.Ser1456Ala)
n.578T>G
n.2702T>G
n.2237T>G
c.343T>G (p.Ser115Ala)
n.2087T>G
c.4273T>G (p.Ser1425Ala)
n.4654T>G
19g.11041401C>ACA404073383SMARCA4c.4361C>A (p.Ser1454Tyr)
c.4265C>A (p.Ser1422Tyr)
c.4166C>A (p.Ser1389Tyr)
c.432C>A
c.392C>A (p.Ser131Tyr)
c.206C>A (p.Ser69Tyr)
n.2506C>A
c.2759C>A (p.Ser920Tyr)
c.1722C>A
c.4262C>A (p.Ser1421Tyr)
c.2822C>A (p.Ser941Tyr)
c.4175C>A (p.Ser1392Tyr)
c.2550C>A
c.4271C>A (p.Ser1424Tyr)
c.2629C>A
n.758C>A
c.3688C>A
c.2902C>A
c.2937C>A
c.2919C>A
c.2753C>A (p.Ser918Tyr)
c.814C>A
c.2176C>A (n.2176C>A)
c.2608C>A
c.2113C>A (n.2113C>A)
c.2565C>A
n.768C>A
c.2519C>A (p.Ser840Tyr)
c.4367C>A (p.Ser1456Tyr)
n.579C>A
n.2703C>A
n.2238C>A
c.344C>A (p.Ser115Tyr)
n.2088C>A
c.4274C>A (p.Ser1425Tyr)
n.4655C>A
 dbSNP
19g.11041401C>GCA404073387SMARCA4c.4361C>G (p.Ser1454Cys)
c.4265C>G (p.Ser1422Cys)
c.4166C>G (p.Ser1389Cys)
c.432C>G
c.392C>G (p.Ser131Cys)
c.206C>G (p.Ser69Cys)
n.2506C>G
c.2759C>G (p.Ser920Cys)
c.1722C>G
c.4262C>G (p.Ser1421Cys)
c.2822C>G (p.Ser941Cys)
c.4175C>G (p.Ser1392Cys)
c.2550C>G
c.4271C>G (p.Ser1424Cys)
c.2629C>G
n.758C>G
c.3688C>G
c.2902C>G
c.2937C>G
c.2919C>G
c.2753C>G (p.Ser918Cys)
c.814C>G
c.2176C>G (n.2176C>G)
c.2608C>G
c.2113C>G (n.2113C>G)
c.2565C>G
n.768C>G
c.2519C>G (p.Ser840Cys)
c.4367C>G (p.Ser1456Cys)
n.579C>G
n.2703C>G
n.2238C>G
c.344C>G (p.Ser115Cys)
n.2088C>G
c.4274C>G (p.Ser1425Cys)
n.4655C>G
 dbSNP
19g.11041401C>TCA404073390SMARCA4c.4361C>T (p.Ser1454Phe)
c.4265C>T (p.Ser1422Phe)
c.4166C>T (p.Ser1389Phe)
c.432C>T
c.392C>T (p.Ser131Phe)
c.206C>T (p.Ser69Phe)
n.2506C>T
c.2759C>T (p.Ser920Phe)
c.1722C>T
c.4262C>T (p.Ser1421Phe)
c.2822C>T (p.Ser941Phe)
c.4175C>T (p.Ser1392Phe)
c.2550C>T
c.4271C>T (p.Ser1424Phe)
c.2629C>T
n.758C>T
c.3688C>T
c.2902C>T
c.2937C>T
c.2919C>T
c.2753C>T (p.Ser918Phe)
c.814C>T
c.2176C>T (n.2176C>T)
c.2608C>T
c.2113C>T (n.2113C>T)
c.2565C>T
n.768C>T
c.2519C>T (p.Ser840Phe)
c.4367C>T (p.Ser1456Phe)
n.579C>T
n.2703C>T
n.2238C>T
c.344C>T (p.Ser115Phe)
n.2088C>T
c.4274C>T (p.Ser1425Phe)
n.4655C>T
 ClinVar dbSNP
19g.11041402C>ACA505743834SMARCA4c.4362C>A (p.Ser1454=)
c.4266C>A (p.Ser1422=)
c.4167C>A (p.Ser1389=)
c.433C>A
c.393C>A (p.Ser131=)
c.207C>A (p.Ser69=)
n.2507C>A
c.2760C>A (p.Ser920=)
c.1723C>A
c.4263C>A (p.Ser1421=)
c.2823C>A (p.Ser941=)
c.4176C>A (p.Ser1392=)
c.2551C>A
c.4272C>A (p.Ser1424=)
c.2630C>A
n.759C>A
c.3689C>A
c.2903C>A
c.2938C>A
c.2920C>A
c.2754C>A (p.Ser918=)
c.815C>A
c.2177C>A (n.2177C>A)
c.2609C>A
c.2114C>A (n.2114C>A)
c.2566C>A
n.769C>A
c.2520C>A (p.Ser840=)
c.4368C>A (p.Ser1456=)
n.580C>A
n.2704C>A
n.2239C>A
c.345C>A (p.Ser115=)
n.2089C>A
c.4275C>A (p.Ser1425=)
n.4656C>A
 dbSNP
19g.11041402C>GCA505743836SMARCA4c.4362C>G (p.Ser1454=)
c.4266C>G (p.Ser1422=)
c.4167C>G (p.Ser1389=)
c.433C>G
c.393C>G (p.Ser131=)
c.207C>G (p.Ser69=)
n.2507C>G
c.2760C>G (p.Ser920=)
c.1723C>G
c.4263C>G (p.Ser1421=)
c.2823C>G (p.Ser941=)
c.4176C>G (p.Ser1392=)
c.2551C>G
c.4272C>G (p.Ser1424=)
c.2630C>G
n.759C>G
c.3689C>G
c.2903C>G
c.2938C>G
c.2920C>G
c.2754C>G (p.Ser918=)
c.815C>G
c.2177C>G (n.2177C>G)
c.2609C>G
c.2114C>G (n.2114C>G)
c.2566C>G
n.769C>G
c.2520C>G (p.Ser840=)
c.4368C>G (p.Ser1456=)
n.580C>G
n.2704C>G
n.2239C>G
c.345C>G (p.Ser115=)
n.2089C>G
c.4275C>G (p.Ser1425=)
n.4656C>G
 dbSNP
19g.11041402C>TCA505743835SMARCA4c.4362C>T (p.Ser1454=)
c.4266C>T (p.Ser1422=)
c.4167C>T (p.Ser1389=)
c.433C>T
c.393C>T (p.Ser131=)
c.207C>T (p.Ser69=)
n.2507C>T
c.2760C>T (p.Ser920=)
c.1723C>T
c.4263C>T (p.Ser1421=)
c.2823C>T (p.Ser941=)
c.4176C>T (p.Ser1392=)
c.2551C>T
c.4272C>T (p.Ser1424=)
c.2630C>T
n.759C>T
c.3689C>T
c.2903C>T
c.2938C>T
c.2920C>T
c.2754C>T (p.Ser918=)
c.815C>T
c.2177C>T (n.2177C>T)
c.2609C>T
c.2114C>T (n.2114C>T)
c.2566C>T
n.769C>T
c.2520C>T (p.Ser840=)
c.4368C>T (p.Ser1456=)
n.580C>T
n.2704C>T
n.2239C>T
c.345C>T (p.Ser115=)
n.2089C>T
c.4275C>T (p.Ser1425=)
n.4656C>T
 ClinVar dbSNP gnomAD v4
19g.11041403A=CA2322734893SMARCA4c.4363A= (p.Thr1455=)
c.4267A= (p.Thr1423=)
c.4168A= (p.Thr1390=)
c.434A=
c.394A= (p.Thr132=)
c.208A= (p.Thr70=)
n.2508A=
c.2761A= (p.Thr921=)
c.1724A=
c.4264A= (p.Thr1422=)
c.2824A= (p.Thr942=)
c.4177A= (p.Thr1393=)
c.2552A=
c.4273A= (p.Thr1425=)
c.2631A=
n.760A=
c.3690A=
c.2904A=
c.2939A=
c.2921A=
c.2755A= (p.Thr919=)
c.816A=
c.2178A= (n.2178A=)
c.2610A=
c.2115A= (n.2115A=)
c.2567A=
n.770A=
c.2521A= (p.Thr841=)
c.4369A= (p.Thr1457=)
n.581A=
n.2705A=
n.2240A=
c.346A= (p.Thr116=)
n.2090A=
c.4276A= (p.Thr1426=)
n.4657A=
19g.11041403A>CCA404073404SMARCA4c.4363A>C (p.Thr1455Pro)
c.4267A>C (p.Thr1423Pro)
c.4168A>C (p.Thr1390Pro)
c.434A>C
c.394A>C (p.Thr132Pro)
c.208A>C (p.Thr70Pro)
n.2508A>C
c.2761A>C (p.Thr921Pro)
c.1724A>C
c.4264A>C (p.Thr1422Pro)
c.2824A>C (p.Thr942Pro)
c.4177A>C (p.Thr1393Pro)
c.2552A>C
c.4273A>C (p.Thr1425Pro)
c.2631A>C
n.760A>C
c.3690A>C
c.2904A>C
c.2939A>C
c.2921A>C
c.2755A>C (p.Thr919Pro)
c.816A>C
c.2178A>C (n.2178A>C)
c.2610A>C
c.2115A>C (n.2115A>C)
c.2567A>C
n.770A>C
c.2521A>C (p.Thr841Pro)
c.4369A>C (p.Thr1457Pro)
n.581A>C
n.2705A>C
n.2240A>C
c.346A>C (p.Thr116Pro)
n.2090A>C
c.4276A>C (p.Thr1426Pro)
n.4657A>C
 ClinVar dbSNP
19g.11041403A>GCA404073400SMARCA4c.4363A>G (p.Thr1455Ala)
c.4267A>G (p.Thr1423Ala)
c.4168A>G (p.Thr1390Ala)
c.434A>G
c.394A>G (p.Thr132Ala)
c.208A>G (p.Thr70Ala)
n.2508A>G
c.2761A>G (p.Thr921Ala)
c.1724A>G
c.4264A>G (p.Thr1422Ala)
c.2824A>G (p.Thr942Ala)
c.4177A>G (p.Thr1393Ala)
c.2552A>G
c.4273A>G (p.Thr1425Ala)
c.2631A>G
n.760A>G
c.3690A>G
c.2904A>G
c.2939A>G
c.2921A>G
c.2755A>G (p.Thr919Ala)
c.816A>G
c.2178A>G (n.2178A>G)
c.2610A>G
c.2115A>G (n.2115A>G)
c.2567A>G
n.770A>G
c.2521A>G (p.Thr841Ala)
c.4369A>G (p.Thr1457Ala)
n.581A>G
n.2705A>G
n.2240A>G
c.346A>G (p.Thr116Ala)
n.2090A>G
c.4276A>G (p.Thr1426Ala)
n.4657A>G
 ClinVar dbSNP COSMIC COSMIC
19g.11041403A>TCA404073393SMARCA4c.4363A>T (p.Thr1455Ser)
c.4267A>T (p.Thr1423Ser)
c.4168A>T (p.Thr1390Ser)
c.434A>T
c.394A>T (p.Thr132Ser)
c.208A>T (p.Thr70Ser)
n.2508A>T
c.2761A>T (p.Thr921Ser)
c.1724A>T
c.4264A>T (p.Thr1422Ser)
c.2824A>T (p.Thr942Ser)
c.4177A>T (p.Thr1393Ser)
c.2552A>T
c.4273A>T (p.Thr1425Ser)
c.2631A>T
n.760A>T
c.3690A>T
c.2904A>T
c.2939A>T
c.2921A>T
c.2755A>T (p.Thr919Ser)
c.816A>T
c.2178A>T (n.2178A>T)
c.2610A>T
c.2115A>T (n.2115A>T)
c.2567A>T
n.770A>T
c.2521A>T (p.Thr841Ser)
c.4369A>T (p.Thr1457Ser)
n.581A>T
n.2705A>T
n.2240A>T
c.346A>T (p.Thr116Ser)
n.2090A>T
c.4276A>T (p.Thr1426Ser)
n.4657A>T
 ClinVar dbSNP
19g.11041404C>ACA404073419SMARCA4c.4364C>A (p.Thr1455Asn)
c.4268C>A (p.Thr1423Asn)
c.4169C>A (p.Thr1390Asn)
c.435C>A
c.395C>A (p.Thr132Asn)
c.209C>A (p.Thr70Asn)
n.2509C>A
c.2762C>A (p.Thr921Asn)
c.1725C>A
c.4265C>A (p.Thr1422Asn)
c.2825C>A (p.Thr942Asn)
c.4178C>A (p.Thr1393Asn)
c.2553C>A
c.4274C>A (p.Thr1425Asn)
c.2632C>A
n.761C>A
c.3691C>A
c.2905C>A
c.2940C>A
c.2922C>A
c.2756C>A (p.Thr919Asn)
c.817C>A
c.2179C>A (n.2179C>A)
c.2611C>A
c.2116C>A (n.2116C>A)
c.2568C>A
n.771C>A
c.2522C>A (p.Thr841Asn)
c.4370C>A (p.Thr1457Asn)
n.582C>A
n.2706C>A
n.2241C>A
c.347C>A (p.Thr116Asn)
n.2091C>A
c.4277C>A (p.Thr1426Asn)
n.4658C>A
19g.11041404C=CA2322734897SMARCA4c.4364C= (p.Thr1455=)
c.4268C= (p.Thr1423=)
c.4169C= (p.Thr1390=)
c.435C=
c.395C= (p.Thr132=)
c.209C= (p.Thr70=)
n.2509C=
c.2762C= (p.Thr921=)
c.1725C=
c.4265C= (p.Thr1422=)
c.2825C= (p.Thr942=)
c.4178C= (p.Thr1393=)
c.2553C=
c.4274C= (p.Thr1425=)
c.2632C=
n.761C=
c.3691C=
c.2905C=
c.2940C=
c.2922C=
c.2756C= (p.Thr919=)
c.817C=
c.2179C= (n.2179C=)
c.2611C=
c.2116C= (n.2116C=)
c.2568C=
n.771C=
c.2522C= (p.Thr841=)
c.4370C= (p.Thr1457=)
n.582C=
n.2706C=
n.2241C=
c.347C= (p.Thr116=)
n.2091C=
c.4277C= (p.Thr1426=)
n.4658C=
19g.11041404C>GCA404073412SMARCA4c.4364C>G (p.Thr1455Ser)
c.4268C>G (p.Thr1423Ser)
c.4169C>G (p.Thr1390Ser)
c.435C>G
c.395C>G (p.Thr132Ser)
c.209C>G (p.Thr70Ser)
n.2509C>G
c.2762C>G (p.Thr921Ser)
c.1725C>G
c.4265C>G (p.Thr1422Ser)
c.2825C>G (p.Thr942Ser)
c.4178C>G (p.Thr1393Ser)
c.2553C>G
c.4274C>G (p.Thr1425Ser)
c.2632C>G
n.761C>G
c.3691C>G
c.2905C>G
c.2940C>G
c.2922C>G
c.2756C>G (p.Thr919Ser)
c.817C>G
c.2179C>G (n.2179C>G)
c.2611C>G
c.2116C>G (n.2116C>G)
c.2568C>G
n.771C>G
c.2522C>G (p.Thr841Ser)
c.4370C>G (p.Thr1457Ser)
n.582C>G
n.2706C>G
n.2241C>G
c.347C>G (p.Thr116Ser)
n.2091C>G
c.4277C>G (p.Thr1426Ser)
n.4658C>G
19g.11041404C>TCA404073415SMARCA4c.4364C>T (p.Thr1455Ile)
c.4268C>T (p.Thr1423Ile)
c.4169C>T (p.Thr1390Ile)
c.435C>T
c.395C>T (p.Thr132Ile)
c.209C>T (p.Thr70Ile)
n.2509C>T
c.2762C>T (p.Thr921Ile)
c.1725C>T
c.4265C>T (p.Thr1422Ile)
c.2825C>T (p.Thr942Ile)
c.4178C>T (p.Thr1393Ile)
c.2553C>T
c.4274C>T (p.Thr1425Ile)
c.2632C>T
n.761C>T
c.3691C>T
c.2905C>T
c.2940C>T
c.2922C>T
c.2756C>T (p.Thr919Ile)
c.817C>T
c.2179C>T (n.2179C>T)
c.2611C>T
c.2116C>T (n.2116C>T)
c.2568C>T
n.771C>T
c.2522C>T (p.Thr841Ile)
c.4370C>T (p.Thr1457Ile)
n.582C>T
n.2706C>T
n.2241C>T
c.347C>T (p.Thr116Ile)
n.2091C>T
c.4277C>T (p.Thr1426Ile)
n.4658C>T
 dbSNP gnomAD v4
19g.11041405C>ACA505743837SMARCA4c.4365C>A (p.Thr1455=)
c.4269C>A (p.Thr1423=)
c.4170C>A (p.Thr1390=)
c.436C>A
c.396C>A (p.Thr132=)
c.210C>A (p.Thr70=)
n.2510C>A
c.2763C>A (p.Thr921=)
c.1726C>A
c.4266C>A (p.Thr1422=)
c.2826C>A (p.Thr942=)
c.4179C>A (p.Thr1393=)
c.2554C>A
c.4275C>A (p.Thr1425=)
c.2633C>A
n.762C>A
c.3692C>A
c.2906C>A
c.2941C>A
c.2923C>A
c.2757C>A (p.Thr919=)
c.818C>A
c.2180C>A (n.2180C>A)
c.2612C>A
c.2117C>A (n.2117C>A)
c.2569C>A
n.772C>A
c.2523C>A (p.Thr841=)
c.4371C>A (p.Thr1457=)
n.583C>A
n.2707C>A
n.2242C>A
c.348C>A (p.Thr116=)
n.2092C>A
c.4278C>A (p.Thr1426=)
n.4659C>A
 dbSNP
19g.11041405C=CA2322734899SMARCA4c.4365C= (p.Thr1455=)
c.4269C= (p.Thr1423=)
c.4170C= (p.Thr1390=)
c.436C=
c.396C= (p.Thr132=)
c.210C= (p.Thr70=)
n.2510C=
c.2763C= (p.Thr921=)
c.1726C=
c.4266C= (p.Thr1422=)
c.2826C= (p.Thr942=)
c.4179C= (p.Thr1393=)
c.2554C=
c.4275C= (p.Thr1425=)
c.2633C=
n.762C=
c.3692C=
c.2906C=
c.2941C=
c.2923C=
c.2757C= (p.Thr919=)
c.818C=
c.2180C= (n.2180C=)
c.2612C=
c.2117C= (n.2117C=)
c.2569C=
n.772C=
c.2523C= (p.Thr841=)
c.4371C= (p.Thr1457=)
n.583C=
n.2707C=
n.2242C=
c.348C= (p.Thr116=)
n.2092C=
c.4278C= (p.Thr1426=)
n.4659C=
19g.11041405C>GCA505743838SMARCA4c.4365C>G (p.Thr1455=)
c.4269C>G (p.Thr1423=)
c.4170C>G (p.Thr1390=)
c.436C>G
c.396C>G (p.Thr132=)
c.210C>G (p.Thr70=)
n.2510C>G
c.2763C>G (p.Thr921=)
c.1726C>G
c.4266C>G (p.Thr1422=)
c.2826C>G (p.Thr942=)
c.4179C>G (p.Thr1393=)
c.2554C>G
c.4275C>G (p.Thr1425=)
c.2633C>G
n.762C>G
c.3692C>G
c.2906C>G
c.2941C>G
c.2923C>G
c.2757C>G (p.Thr919=)
c.818C>G
c.2180C>G (n.2180C>G)
c.2612C>G
c.2117C>G (n.2117C>G)
c.2569C>G
n.772C>G
c.2523C>G (p.Thr841=)
c.4371C>G (p.Thr1457=)
n.583C>G
n.2707C>G
n.2242C>G
c.348C>G (p.Thr116=)
n.2092C>G
c.4278C>G (p.Thr1426=)
n.4659C>G
19g.11041405C>TCA505743839SMARCA4c.4365C>T (p.Thr1455=)
c.4269C>T (p.Thr1423=)
c.4170C>T (p.Thr1390=)
c.436C>T
c.396C>T (p.Thr132=)
c.210C>T (p.Thr70=)
n.2510C>T
c.2763C>T (p.Thr921=)
c.1726C>T
c.4266C>T (p.Thr1422=)
c.2826C>T (p.Thr942=)
c.4179C>T (p.Thr1393=)
c.2554C>T
c.4275C>T (p.Thr1425=)
c.2633C>T
n.762C>T
c.3692C>T
c.2906C>T
c.2941C>T
c.2923C>T
c.2757C>T (p.Thr919=)
c.818C>T
c.2180C>T (n.2180C>T)
c.2612C>T
c.2117C>T (n.2117C>T)
c.2569C>T
n.772C>T
c.2523C>T (p.Thr841=)
c.4371C>T (p.Thr1457=)
n.583C>T
n.2707C>T
n.2242C>T
c.348C>T (p.Thr116=)
n.2092C>T
c.4278C>T (p.Thr1426=)
n.4659C>T
 ClinVar dbSNP

Number of alleles fetched