Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.55308605delCA2814886368BRSK1c.2090-34del (n.2090-34del)
c.1175-34del (n.1175-34del)
c.2138-34del (n.2138-34del)
c.1820-34del (n.1820-34del)
c.1847-34del (n.1847-34del)
n.2073-34del
c.1562-34del (n.1562-34del)
c.1865-34del (n.1865-34del)
n.2371-34del
19g.55308605C>ACA2735884296BRSK1c.2090-34C>A (n.2090-34C>A)
c.1175-34C>A (n.1175-34C>A)
c.2138-34C>A (n.2138-34C>A)
c.1820-34C>A (n.1820-34C>A)
c.1847-34C>A (n.1847-34C>A)
n.2073-34C>A
c.1562-34C>A (n.1562-34C>A)
c.1865-34C>A (n.1865-34C>A)
n.2371-34C>A
 dbSNP
19g.55308605C=CA2343355822BRSK1c.2090-34C= (n.2090-34C=)
c.1175-34C= (n.1175-34C=)
c.2138-34C= (n.2138-34C=)
c.1820-34C= (n.1820-34C=)
c.1847-34C= (n.1847-34C=)
n.2073-34C=
c.1562-34C= (n.1562-34C=)
c.1865-34C= (n.1865-34C=)
n.2371-34C=
19g.55308605C>TCA9672673BRSK1c.2090-34C>T (n.2090-34C>T)
c.1175-34C>T (n.1175-34C>T)
c.2138-34C>T (n.2138-34C>T)
c.1820-34C>T (n.1820-34C>T)
c.1847-34C>T (n.1847-34C>T)
n.2073-34C>T
c.1562-34C>T (n.1562-34C>T)
c.1865-34C>T (n.1865-34C>T)
n.2371-34C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.55308606A=CA2343355823BRSK1c.2090-33A= (n.2090-33A=)
c.1175-33A= (n.1175-33A=)
c.2138-33A= (n.2138-33A=)
c.1820-33A= (n.1820-33A=)
c.1847-33A= (n.1847-33A=)
n.2073-33A=
c.1562-33A= (n.1562-33A=)
c.1865-33A= (n.1865-33A=)
n.2371-33A=
19g.55308606A>CCA310135123BRSK1c.2090-33A>C (n.2090-33A>C)
c.1175-33A>C (n.1175-33A>C)
c.2138-33A>C (n.2138-33A>C)
c.1820-33A>C (n.1820-33A>C)
c.1847-33A>C (n.1847-33A>C)
n.2073-33A>C
c.1562-33A>C (n.1562-33A>C)
c.1865-33A>C (n.1865-33A>C)
n.2371-33A>C
 dbSNP gnomAD v2 gnomAD v4
19g.55308606A>GCA9672674BRSK1c.2090-33A>G (n.2090-33A>G)
c.1175-33A>G (n.1175-33A>G)
c.2138-33A>G (n.2138-33A>G)
c.1820-33A>G (n.1820-33A>G)
c.1847-33A>G (n.1847-33A>G)
n.2073-33A>G
c.1562-33A>G (n.1562-33A>G)
c.1865-33A>G (n.1865-33A>G)
n.2371-33A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308607G>ACA2587278081BRSK1c.2090-32G>A (n.2090-32G>A)
c.1175-32G>A (n.1175-32G>A)
c.2138-32G>A (n.2138-32G>A)
c.1820-32G>A (n.1820-32G>A)
c.1847-32G>A (n.1847-32G>A)
n.2073-32G>A
c.1562-32G>A (n.1562-32G>A)
c.1865-32G>A (n.1865-32G>A)
n.2371-32G>A
 gnomAD v4
19g.55308608T>CCA2587278082BRSK1c.2090-31T>C (n.2090-31T>C)
c.1175-31T>C (n.1175-31T>C)
c.2138-31T>C (n.2138-31T>C)
c.1820-31T>C (n.1820-31T>C)
c.1847-31T>C (n.1847-31T>C)
n.2073-31T>C
c.1562-31T>C (n.1562-31T>C)
c.1865-31T>C (n.1865-31T>C)
n.2371-31T>C
 gnomAD v4
19g.55308609C>ACA2576894927BRSK1c.2090-30C>A (n.2090-30C>A)
c.1175-30C>A (n.1175-30C>A)
c.2138-30C>A (n.2138-30C>A)
c.1820-30C>A (n.1820-30C>A)
c.1847-30C>A (n.1847-30C>A)
n.2073-30C>A
c.1562-30C>A (n.1562-30C>A)
c.1865-30C>A (n.1865-30C>A)
n.2371-30C>A
 gnomAD v4
19g.55308609C=CA2343355824BRSK1c.2090-30C= (n.2090-30C=)
c.1175-30C= (n.1175-30C=)
c.2138-30C= (n.2138-30C=)
c.1820-30C= (n.1820-30C=)
c.1847-30C= (n.1847-30C=)
n.2073-30C=
c.1562-30C= (n.1562-30C=)
c.1865-30C= (n.1865-30C=)
n.2371-30C=
19g.55308609C>TCA310135126BRSK1c.2090-30C>T (n.2090-30C>T)
c.1175-30C>T (n.1175-30C>T)
c.2138-30C>T (n.2138-30C>T)
c.1820-30C>T (n.1820-30C>T)
c.1847-30C>T (n.1847-30C>T)
n.2073-30C>T
c.1562-30C>T (n.1562-30C>T)
c.1865-30C>T (n.1865-30C>T)
n.2371-30C>T
 dbSNP gnomAD v3 gnomAD v4
19g.55308613G>ACA2587278087BRSK1c.2090-26G>A (n.2090-26G>A)
c.1175-26G>A (n.1175-26G>A)
c.2138-26G>A (n.2138-26G>A)
c.1820-26G>A (n.1820-26G>A)
c.1847-26G>A (n.1847-26G>A)
n.2073-26G>A
c.1562-26G>A (n.1562-26G>A)
c.1865-26G>A (n.1865-26G>A)
n.2371-26G>A
 gnomAD v4
19g.55308613G>CCA2735892458BRSK1c.2090-26G>C (n.2090-26G>C)
c.1175-26G>C (n.1175-26G>C)
c.2138-26G>C (n.2138-26G>C)
c.1820-26G>C (n.1820-26G>C)
c.1847-26G>C (n.1847-26G>C)
n.2073-26G>C
c.1562-26G>C (n.1562-26G>C)
c.1865-26G>C (n.1865-26G>C)
n.2371-26G>C
 dbSNP
19g.55308613G=CA2343355825BRSK1c.2090-26G= (n.2090-26G=)
c.1175-26G= (n.1175-26G=)
c.2138-26G= (n.2138-26G=)
c.1820-26G= (n.1820-26G=)
c.1847-26G= (n.1847-26G=)
n.2073-26G=
c.1562-26G= (n.1562-26G=)
c.1865-26G= (n.1865-26G=)
n.2371-26G=
19g.55308613G>TCA310135147BRSK1c.2090-26G>T (n.2090-26G>T)
c.1175-26G>T (n.1175-26G>T)
c.2138-26G>T (n.2138-26G>T)
c.1820-26G>T (n.1820-26G>T)
c.1847-26G>T (n.1847-26G>T)
n.2073-26G>T
c.1562-26G>T (n.1562-26G>T)
c.1865-26G>T (n.1865-26G>T)
n.2371-26G>T
 dbSNP gnomAD v4
19g.55308618delCA2587278089BRSK1c.2090-21del (n.2090-21del)
c.1175-21del (n.1175-21del)
c.2138-21del (n.2138-21del)
c.1820-21del (n.1820-21del)
c.1847-21del (n.1847-21del)
n.2073-21del
c.1562-21del (n.1562-21del)
c.1865-21del (n.1865-21del)
n.2371-21del
 gnomAD v4
19g.55308617T>GCA310135152BRSK1c.2090-22T>G (n.2090-22T>G)
c.1175-22T>G (n.1175-22T>G)
c.2138-22T>G (n.2138-22T>G)
c.1820-22T>G (n.1820-22T>G)
c.1847-22T>G (n.1847-22T>G)
n.2073-22T>G
c.1562-22T>G (n.1562-22T>G)
c.1865-22T>G (n.1865-22T>G)
n.2371-22T>G
 dbSNP gnomAD v2 gnomAD v4
19g.55308617T=CA2343355826BRSK1c.2090-22T= (n.2090-22T=)
c.1175-22T= (n.1175-22T=)
c.2138-22T= (n.2138-22T=)
c.1820-22T= (n.1820-22T=)
c.1847-22T= (n.1847-22T=)
n.2073-22T=
c.1562-22T= (n.1562-22T=)
c.1865-22T= (n.1865-22T=)
n.2371-22T=
19g.55308618T>CCA633862512BRSK1c.2090-21T>C (n.2090-21T>C)
c.1175-21T>C (n.1175-21T>C)
c.2138-21T>C (n.2138-21T>C)
c.1820-21T>C (n.1820-21T>C)
c.1847-21T>C (n.1847-21T>C)
n.2073-21T>C
c.1562-21T>C (n.1562-21T>C)
c.1865-21T>C (n.1865-21T>C)
n.2371-21T>C
 dbSNP gnomAD v2
19g.55308618T=CA2343355827BRSK1c.2090-21T= (n.2090-21T=)
c.1175-21T= (n.1175-21T=)
c.2138-21T= (n.2138-21T=)
c.1820-21T= (n.1820-21T=)
c.1847-21T= (n.1847-21T=)
n.2073-21T=
c.1562-21T= (n.1562-21T=)
c.1865-21T= (n.1865-21T=)
n.2371-21T=
19g.55308619C>ACA2587278092BRSK1c.2090-20C>A (n.2090-20C>A)
c.1175-20C>A (n.1175-20C>A)
c.2138-20C>A (n.2138-20C>A)
c.1820-20C>A (n.1820-20C>A)
c.1847-20C>A (n.1847-20C>A)
n.2073-20C>A
c.1562-20C>A (n.1562-20C>A)
c.1865-20C>A (n.1865-20C>A)
n.2371-20C>A
 gnomAD v4
19g.55308619C=CA2343355828BRSK1c.2090-20C= (n.2090-20C=)
c.1175-20C= (n.1175-20C=)
c.2138-20C= (n.2138-20C=)
c.1820-20C= (n.1820-20C=)
c.1847-20C= (n.1847-20C=)
n.2073-20C=
c.1562-20C= (n.1562-20C=)
c.1865-20C= (n.1865-20C=)
n.2371-20C=
19g.55308619C>GCA9672675BRSK1c.2090-20C>G (n.2090-20C>G)
c.1175-20C>G (n.1175-20C>G)
c.2138-20C>G (n.2138-20C>G)
c.1820-20C>G (n.1820-20C>G)
c.1847-20C>G (n.1847-20C>G)
n.2073-20C>G
c.1562-20C>G (n.1562-20C>G)
c.1865-20C>G (n.1865-20C>G)
n.2371-20C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308622C>ACA2576894929BRSK1c.2090-17C>A (n.2090-17C>A)
c.1175-17C>A (n.1175-17C>A)
c.2138-17C>A (n.2138-17C>A)
c.1820-17C>A (n.1820-17C>A)
c.1847-17C>A (n.1847-17C>A)
n.2073-17C>A
c.1562-17C>A (n.1562-17C>A)
c.1865-17C>A (n.1865-17C>A)
n.2371-17C>A
19g.55308622C=CA2343355829BRSK1c.2090-17C= (n.2090-17C=)
c.1175-17C= (n.1175-17C=)
c.2138-17C= (n.2138-17C=)
c.1820-17C= (n.1820-17C=)
c.1847-17C= (n.1847-17C=)
n.2073-17C=
c.1562-17C= (n.1562-17C=)
c.1865-17C= (n.1865-17C=)
n.2371-17C=
19g.55308622C>TCA9672676BRSK1c.2090-17C>T (n.2090-17C>T)
c.1175-17C>T (n.1175-17C>T)
c.2138-17C>T (n.2138-17C>T)
c.1820-17C>T (n.1820-17C>T)
c.1847-17C>T (n.1847-17C>T)
n.2073-17C>T
c.1562-17C>T (n.1562-17C>T)
c.1865-17C>T (n.1865-17C>T)
n.2371-17C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308623C=CA2343355830BRSK1c.2090-16C= (n.2090-16C=)
c.1175-16C= (n.1175-16C=)
c.2138-16C= (n.2138-16C=)
c.1820-16C= (n.1820-16C=)
c.1847-16C= (n.1847-16C=)
n.2073-16C=
c.1562-16C= (n.1562-16C=)
c.1865-16C= (n.1865-16C=)
n.2371-16C=
19g.55308623C>TCA9672677BRSK1c.2090-16C>T (n.2090-16C>T)
c.1175-16C>T (n.1175-16C>T)
c.2138-16C>T (n.2138-16C>T)
c.1820-16C>T (n.1820-16C>T)
c.1847-16C>T (n.1847-16C>T)
n.2073-16C>T
c.1562-16C>T (n.1562-16C>T)
c.1865-16C>T (n.1865-16C>T)
n.2371-16C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308624C>ACA2576894930BRSK1c.2090-15C>A (n.2090-15C>A)
c.1175-15C>A (n.1175-15C>A)
c.2138-15C>A (n.2138-15C>A)
c.1820-15C>A (n.1820-15C>A)
c.1847-15C>A (n.1847-15C>A)
n.2073-15C>A
c.1562-15C>A (n.1562-15C>A)
c.1865-15C>A (n.1865-15C>A)
n.2371-15C>A
19g.55308624C=CA2343355831BRSK1c.2090-15C= (n.2090-15C=)
c.1175-15C= (n.1175-15C=)
c.2138-15C= (n.2138-15C=)
c.1820-15C= (n.1820-15C=)
c.1847-15C= (n.1847-15C=)
n.2073-15C=
c.1562-15C= (n.1562-15C=)
c.1865-15C= (n.1865-15C=)
n.2371-15C=
19g.55308624C>GCA2576894931BRSK1c.2090-15C>G (n.2090-15C>G)
c.1175-15C>G (n.1175-15C>G)
c.2138-15C>G (n.2138-15C>G)
c.1820-15C>G (n.1820-15C>G)
c.1847-15C>G (n.1847-15C>G)
n.2073-15C>G
c.1562-15C>G (n.1562-15C>G)
c.1865-15C>G (n.1865-15C>G)
n.2371-15C>G
 gnomAD v4
19g.55308624C>TCA9672678BRSK1c.2090-15C>T (n.2090-15C>T)
c.1175-15C>T (n.1175-15C>T)
c.2138-15C>T (n.2138-15C>T)
c.1820-15C>T (n.1820-15C>T)
c.1847-15C>T (n.1847-15C>T)
n.2073-15C>T
c.1562-15C>T (n.1562-15C>T)
c.1865-15C>T (n.1865-15C>T)
n.2371-15C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308625G>ACA9672679BRSK1c.2090-14G>A (n.2090-14G>A)
c.1175-14G>A (n.1175-14G>A)
c.2138-14G>A (n.2138-14G>A)
c.1820-14G>A (n.1820-14G>A)
c.1847-14G>A (n.1847-14G>A)
n.2073-14G>A
c.1562-14G>A (n.1562-14G>A)
c.1865-14G>A (n.1865-14G>A)
n.2371-14G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308625G=CA2343355832BRSK1c.2090-14G= (n.2090-14G=)
c.1175-14G= (n.1175-14G=)
c.2138-14G= (n.2138-14G=)
c.1820-14G= (n.1820-14G=)
c.1847-14G= (n.1847-14G=)
n.2073-14G=
c.1562-14G= (n.1562-14G=)
c.1865-14G= (n.1865-14G=)
n.2371-14G=
19g.55308627C>TCA2587278096BRSK1c.2090-12C>T (n.2090-12C>T)
c.1175-12C>T (n.1175-12C>T)
c.2138-12C>T (n.2138-12C>T)
c.1820-12C>T (n.1820-12C>T)
c.1847-12C>T (n.1847-12C>T)
n.2073-12C>T
c.1562-12C>T (n.1562-12C>T)
c.1865-12C>T (n.1865-12C>T)
n.2371-12C>T
 gnomAD v4
19g.55308629G>ACA883744420BRSK1c.2090-10G>A (n.2090-10G>A)
c.1175-10G>A (n.1175-10G>A)
c.2138-10G>A (n.2138-10G>A)
c.1820-10G>A (n.1820-10G>A)
c.1847-10G>A (n.1847-10G>A)
n.2073-10G>A
c.1562-10G>A (n.1562-10G>A)
c.1865-10G>A (n.1865-10G>A)
n.2371-10G>A
 dbSNP gnomAD v3 gnomAD v4
19g.55308629G=CA2343355833BRSK1c.2090-10G= (n.2090-10G=)
c.1175-10G= (n.1175-10G=)
c.2138-10G= (n.2138-10G=)
c.1820-10G= (n.1820-10G=)
c.1847-10G= (n.1847-10G=)
n.2073-10G=
c.1562-10G= (n.1562-10G=)
c.1865-10G= (n.1865-10G=)
n.2371-10G=
19g.55308631G>ACA9672680BRSK1c.2090-8G>A (n.2090-8G>A)
c.1175-8G>A (n.1175-8G>A)
c.2138-8G>A (n.2138-8G>A)
c.1820-8G>A (n.1820-8G>A)
c.1847-8G>A (n.1847-8G>A)
n.2073-8G>A
c.1562-8G>A (n.1562-8G>A)
c.1865-8G>A (n.1865-8G>A)
n.2371-8G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.55308631G=CA2343355834BRSK1c.2090-8G= (n.2090-8G=)
c.1175-8G= (n.1175-8G=)
c.2138-8G= (n.2138-8G=)
c.1820-8G= (n.1820-8G=)
c.1847-8G= (n.1847-8G=)
n.2073-8G=
c.1562-8G= (n.1562-8G=)
c.1865-8G= (n.1865-8G=)
n.2371-8G=
19g.55308633C>TCA2587278099BRSK1c.2090-6C>T (n.2090-6C>T)
c.1175-6C>T (n.1175-6C>T)
c.2138-6C>T (n.2138-6C>T)
c.1820-6C>T (n.1820-6C>T)
c.1847-6C>T (n.1847-6C>T)
n.2073-6C>T
c.1562-6C>T (n.1562-6C>T)
c.1865-6C>T (n.1865-6C>T)
n.2371-6C>T
 gnomAD v4
19g.55308634T>CCA2587278100BRSK1c.2090-5T>C (n.2090-5T>C)
c.1175-5T>C (n.1175-5T>C)
c.2138-5T>C (n.2138-5T>C)
c.1820-5T>C (n.1820-5T>C)
c.1847-5T>C (n.1847-5T>C)
n.2073-5T>C
c.1562-5T>C (n.1562-5T>C)
c.1865-5T>C (n.1865-5T>C)
n.2371-5T>C
 gnomAD v4
19g.55308635C=CA2343355835BRSK1c.2090-4C= (n.2090-4C=)
c.1175-4C= (n.1175-4C=)
c.2138-4C= (n.2138-4C=)
c.1820-4C= (n.1820-4C=)
c.1847-4C= (n.1847-4C=)
n.2073-4C=
c.1562-4C= (n.1562-4C=)
c.1865-4C= (n.1865-4C=)
n.2371-4C=
19g.55308635C>TCA2343355836BRSK1c.2090-4C>T (n.2090-4C>T)
c.1175-4C>T (n.1175-4C>T)
c.2138-4C>T (n.2138-4C>T)
c.1820-4C>T (n.1820-4C>T)
c.1847-4C>T (n.1847-4C>T)
n.2073-4C>T
c.1562-4C>T (n.1562-4C>T)
c.1865-4C>T (n.1865-4C>T)
n.2371-4C>T
 dbSNP gnomAD v4
19g.55308636T>CCA2587278102BRSK1c.2090-3T>C (n.2090-3T>C)
c.1175-3T>C (n.1175-3T>C)
c.2138-3T>C (n.2138-3T>C)
c.1820-3T>C (n.1820-3T>C)
c.1847-3T>C (n.1847-3T>C)
n.2073-3T>C
c.1562-3T>C (n.1562-3T>C)
c.1865-3T>C (n.1865-3T>C)
n.2371-3T>C
 gnomAD v4
19g.55308636T=CA2343355837BRSK1c.2090-3T= (n.2090-3T=)
c.1175-3T= (n.1175-3T=)
c.2138-3T= (n.2138-3T=)
c.1820-3T= (n.1820-3T=)
c.1847-3T= (n.1847-3T=)
n.2073-3T=
c.1562-3T= (n.1562-3T=)
c.1865-3T= (n.1865-3T=)
n.2371-3T=
19g.55308637A>CCA407461717BRSK1c.2090-2A>C (n.2090-2A>C)
c.1175-2A>C (n.1175-2A>C)
c.2138-2A>C (n.2138-2A>C)
c.1820-2A>C (n.1820-2A>C)
c.1847-2A>C (n.1847-2A>C)
n.2073-2A>C
c.1562-2A>C (n.1562-2A>C)
c.1865-2A>C (n.1865-2A>C)
n.2371-2A>C
19g.55308637A>GCA407461720BRSK1c.2090-2A>G (n.2090-2A>G)
c.1175-2A>G (n.1175-2A>G)
c.2138-2A>G (n.2138-2A>G)
c.1820-2A>G (n.1820-2A>G)
c.1847-2A>G (n.1847-2A>G)
n.2073-2A>G
c.1562-2A>G (n.1562-2A>G)
c.1865-2A>G (n.1865-2A>G)
n.2371-2A>G
19g.55308637A>TCA407461723BRSK1c.2090-2A>T (n.2090-2A>T)
c.1175-2A>T (n.1175-2A>T)
c.2138-2A>T (n.2138-2A>T)
c.1820-2A>T (n.1820-2A>T)
c.1847-2A>T (n.1847-2A>T)
n.2073-2A>T
c.1562-2A>T (n.1562-2A>T)
c.1865-2A>T (n.1865-2A>T)
n.2371-2A>T
19g.55308637dupCA9672681BRSK1c.2090-2dup (n.2090-2dup)
c.1175-2dup (n.1175-2dup)
c.2138-2dup (n.2138-2dup)
c.1820-2dup (n.1820-2dup)
c.1847-2dup (n.1847-2dup)
n.2073-2dup
c.1562-2dup (n.1562-2dup)
c.1865-2dup (n.1865-2dup)
n.2371-2dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308638G>ACA407461731BRSK1c.2090-1G>A (n.2090-1G>A)
c.1175-1G>A (n.1175-1G>A)
c.2138-1G>A (n.2138-1G>A)
c.1820-1G>A (n.1820-1G>A)
c.1847-1G>A (n.1847-1G>A)
n.2073-1G>A
c.1562-1G>A (n.1562-1G>A)
c.1865-1G>A (n.1865-1G>A)
n.2371-1G>A
19g.55308638G>CCA407461733BRSK1c.2090-1G>C (n.2090-1G>C)
c.1175-1G>C (n.1175-1G>C)
c.2138-1G>C (n.2138-1G>C)
c.1820-1G>C (n.1820-1G>C)
c.1847-1G>C (n.1847-1G>C)
n.2073-1G>C
c.1562-1G>C (n.1562-1G>C)
c.1865-1G>C (n.1865-1G>C)
n.2371-1G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.55308638G=CA2343355838BRSK1c.2090-1G= (n.2090-1G=)
c.1175-1G= (n.1175-1G=)
c.2138-1G= (n.2138-1G=)
c.1820-1G= (n.1820-1G=)
c.1847-1G= (n.1847-1G=)
n.2073-1G=
c.1562-1G= (n.1562-1G=)
c.1865-1G= (n.1865-1G=)
n.2371-1G=
19g.55308638G>TCA407461726BRSK1c.2090-1G>T (n.2090-1G>T)
c.1175-1G>T (n.1175-1G>T)
c.2138-1G>T (n.2138-1G>T)
c.1820-1G>T (n.1820-1G>T)
c.1847-1G>T (n.1847-1G>T)
n.2073-1G>T
c.1562-1G>T (n.1562-1G>T)
c.1865-1G>T (n.1865-1G>T)
n.2371-1G>T
19g.55308639G>ACA407461736BRSK1c.2090G>A (p.Gly697Asp)
c.1175G>A (p.Gly392Asp)
c.2138G>A (p.Gly713Asp)
c.1820G>A (p.Gly607Asp)
c.1847G>A (p.Gly616Asp)
n.2073G>A
c.1562G>A (p.Gly521Asp)
c.1865G>A (p.Gly622Asp)
n.2371G>A
19g.55308639G>CCA407461740BRSK1c.2090G>C (p.Gly697Ala)
c.1175G>C (p.Gly392Ala)
c.2138G>C (p.Gly713Ala)
c.1820G>C (p.Gly607Ala)
c.1847G>C (p.Gly616Ala)
n.2073G>C
c.1562G>C (p.Gly521Ala)
c.1865G>C (p.Gly622Ala)
n.2371G>C
19g.55308639G>TCA407461742BRSK1c.2090G>T (p.Gly697Val)
c.1175G>T (p.Gly392Val)
c.2138G>T (p.Gly713Val)
c.1820G>T (p.Gly607Val)
c.1847G>T (p.Gly616Val)
n.2073G>T
c.1562G>T (p.Gly521Val)
c.1865G>T (p.Gly622Val)
n.2371G>T
19g.55308640T>ACA508995438BRSK1c.2091T>A (p.Gly697=)
c.1176T>A (p.Gly392=)
c.2139T>A (p.Gly713=)
c.1821T>A (p.Gly607=)
c.1848T>A (p.Gly616=)
n.2074T>A
c.1563T>A (p.Gly521=)
c.1866T>A (p.Gly622=)
n.2372T>A
19g.55308640T>CCA508995439BRSK1c.2091T>C (p.Gly697=)
c.1176T>C (p.Gly392=)
c.2139T>C (p.Gly713=)
c.1821T>C (p.Gly607=)
c.1848T>C (p.Gly616=)
n.2074T>C
c.1563T>C (p.Gly521=)
c.1866T>C (p.Gly622=)
n.2372T>C
19g.55308640T>GCA508995440BRSK1c.2091T>G (p.Gly697=)
c.1176T>G (p.Gly392=)
c.2139T>G (p.Gly713=)
c.1821T>G (p.Gly607=)
c.1848T>G (p.Gly616=)
n.2074T>G
c.1563T>G (p.Gly521=)
c.1866T>G (p.Gly622=)
n.2372T>G
19g.55308641C>ACA407461747BRSK1c.2092C>A (p.Pro698Thr)
c.1177C>A (p.Pro393Thr)
c.2140C>A (p.Pro714Thr)
c.1822C>A (p.Pro608Thr)
c.1849C>A (p.Pro617Thr)
n.2075C>A
c.1564C>A (p.Pro522Thr)
c.1867C>A (p.Pro623Thr)
n.2373C>A
19g.55308641C=CA2343355839BRSK1c.2092C= (p.Pro698=)
c.1177C= (p.Pro393=)
c.2140C= (p.Pro714=)
c.1822C= (p.Pro608=)
c.1849C= (p.Pro617=)
n.2075C=
c.1564C= (p.Pro522=)
c.1867C= (p.Pro623=)
n.2373C=
19g.55308641C>GCA407461750BRSK1c.2092C>G (p.Pro698Ala)
c.1177C>G (p.Pro393Ala)
c.2140C>G (p.Pro714Ala)
c.1822C>G (p.Pro608Ala)
c.1849C>G (p.Pro617Ala)
n.2075C>G
c.1564C>G (p.Pro522Ala)
c.1867C>G (p.Pro623Ala)
n.2373C>G
19g.55308641C>TCA407461752BRSK1c.2092C>T (p.Pro698Ser)
c.1177C>T (p.Pro393Ser)
c.2140C>T (p.Pro714Ser)
c.1822C>T (p.Pro608Ser)
c.1849C>T (p.Pro617Ser)
n.2075C>T
c.1564C>T (p.Pro522Ser)
c.1867C>T (p.Pro623Ser)
n.2373C>T
 dbSNP gnomAD v4
19g.55308643delCA2576894934BRSK1c.2094del (p.Ser699AlafsTer16)
c.1179del (p.Ser394AlafsTer16)
c.2142del (p.Ser715AlafsTer16)
c.1824del (p.Ser609AlafsTer16)
c.1851del (p.Ser618AlafsTer16)
n.2077del
c.1566del (p.Ser523AlafsTer16)
c.1869del (p.Ser624AlafsTer16)
n.2375del
19g.55308642C>ACA407461755BRSK1c.2093C>A (p.Pro698His)
c.1178C>A (p.Pro393His)
c.2141C>A (p.Pro714His)
c.1823C>A (p.Pro608His)
c.1850C>A (p.Pro617His)
n.2076C>A
c.1565C>A (p.Pro522His)
c.1868C>A (p.Pro623His)
n.2374C>A
19g.55308642C=CA2343355840BRSK1c.2093C= (p.Pro698=)
c.1178C= (p.Pro393=)
c.2141C= (p.Pro714=)
c.1823C= (p.Pro608=)
c.1850C= (p.Pro617=)
n.2076C=
c.1565C= (p.Pro522=)
c.1868C= (p.Pro623=)
n.2374C=
19g.55308642C>GCA407461759BRSK1c.2093C>G (p.Pro698Arg)
c.1178C>G (p.Pro393Arg)
c.2141C>G (p.Pro714Arg)
c.1823C>G (p.Pro608Arg)
c.1850C>G (p.Pro617Arg)
n.2076C>G
c.1565C>G (p.Pro522Arg)
c.1868C>G (p.Pro623Arg)
n.2374C>G
19g.55308642C>TCA9672682BRSK1c.2093C>T (p.Pro698Leu)
c.1178C>T (p.Pro393Leu)
c.2141C>T (p.Pro714Leu)
c.1823C>T (p.Pro608Leu)
c.1850C>T (p.Pro617Leu)
n.2076C>T
c.1565C>T (p.Pro522Leu)
c.1868C>T (p.Pro623Leu)
n.2374C>T
 dbSNP ExAC gnomAD v2
19g.55308643C>ACA508995442BRSK1c.2094C>A (p.Pro698=)
c.1179C>A (p.Pro393=)
c.2142C>A (p.Pro714=)
c.1824C>A (p.Pro608=)
c.1851C>A (p.Pro617=)
n.2077C>A
c.1566C>A (p.Pro522=)
c.1869C>A (p.Pro623=)
n.2375C>A
19g.55308643C>GCA508995443BRSK1c.2094C>G (p.Pro698=)
c.1179C>G (p.Pro393=)
c.2142C>G (p.Pro714=)
c.1824C>G (p.Pro608=)
c.1851C>G (p.Pro617=)
n.2077C>G
c.1566C>G (p.Pro522=)
c.1869C>G (p.Pro623=)
n.2375C>G
19g.55308643C>TCA508995444BRSK1c.2094C>T (p.Pro698=)
c.1179C>T (p.Pro393=)
c.2142C>T (p.Pro714=)
c.1824C>T (p.Pro608=)
c.1851C>T (p.Pro617=)
n.2077C>T
c.1566C>T (p.Pro522=)
c.1869C>T (p.Pro623=)
n.2375C>T
19g.55308644A>CCA407461767BRSK1c.2095A>C (p.Ser699Arg)
c.1180A>C (p.Ser394Arg)
c.2143A>C (p.Ser715Arg)
c.1825A>C (p.Ser609Arg)
c.1852A>C (p.Ser618Arg)
n.2078A>C
c.1567A>C (p.Ser523Arg)
c.1870A>C (p.Ser624Arg)
n.2376A>C
19g.55308644A>GCA407461769BRSK1c.2095A>G (p.Ser699Gly)
c.1180A>G (p.Ser394Gly)
c.2143A>G (p.Ser715Gly)
c.1825A>G (p.Ser609Gly)
c.1852A>G (p.Ser618Gly)
n.2078A>G
c.1567A>G (p.Ser523Gly)
c.1870A>G (p.Ser624Gly)
n.2376A>G
19g.55308644A>TCA407461771BRSK1c.2095A>T (p.Ser699Cys)
c.1180A>T (p.Ser394Cys)
c.2143A>T (p.Ser715Cys)
c.1825A>T (p.Ser609Cys)
c.1852A>T (p.Ser618Cys)
n.2078A>T
c.1567A>T (p.Ser523Cys)
c.1870A>T (p.Ser624Cys)
n.2376A>T
19g.55308645G>ACA407461776BRSK1c.2096G>A (p.Ser699Asn)
c.1181G>A (p.Ser394Asn)
c.2144G>A (p.Ser715Asn)
c.1826G>A (p.Ser609Asn)
c.1853G>A (p.Ser618Asn)
n.2079G>A
c.1568G>A (p.Ser523Asn)
c.1871G>A (p.Ser624Asn)
n.2377G>A
 gnomAD v4
19g.55308645G>CCA407461779BRSK1c.2096G>C (p.Ser699Thr)
c.1181G>C (p.Ser394Thr)
c.2144G>C (p.Ser715Thr)
c.1826G>C (p.Ser609Thr)
c.1853G>C (p.Ser618Thr)
n.2079G>C
c.1568G>C (p.Ser523Thr)
c.1871G>C (p.Ser624Thr)
n.2377G>C
19g.55308645G>TCA407461775BRSK1c.2096G>T (p.Ser699Ile)
c.1181G>T (p.Ser394Ile)
c.2144G>T (p.Ser715Ile)
c.1826G>T (p.Ser609Ile)
c.1853G>T (p.Ser618Ile)
n.2079G>T
c.1568G>T (p.Ser523Ile)
c.1871G>T (p.Ser624Ile)
n.2377G>T
19g.55308646C>ACA407461781BRSK1c.2097C>A (p.Ser699Arg)
c.1182C>A (p.Ser394Arg)
c.2145C>A (p.Ser715Arg)
c.1827C>A (p.Ser609Arg)
c.1854C>A (p.Ser618Arg)
n.2080C>A
c.1569C>A (p.Ser523Arg)
c.1872C>A (p.Ser624Arg)
n.2378C>A
19g.55308646C>GCA407461784BRSK1c.2097C>G (p.Ser699Arg)
c.1182C>G (p.Ser394Arg)
c.2145C>G (p.Ser715Arg)
c.1827C>G (p.Ser609Arg)
c.1854C>G (p.Ser618Arg)
n.2080C>G
c.1569C>G (p.Ser523Arg)
c.1872C>G (p.Ser624Arg)
n.2378C>G
19g.55308646C>TCA508995448BRSK1c.2097C>T (p.Ser699=)
c.1182C>T (p.Ser394=)
c.2145C>T (p.Ser715=)
c.1827C>T (p.Ser609=)
c.1854C>T (p.Ser618=)
n.2080C>T
c.1569C>T (p.Ser523=)
c.1872C>T (p.Ser624=)
n.2378C>T
19g.55308647C>ACA407461789BRSK1c.2098C>A (p.Arg700Ser)
c.1183C>A (p.Arg395Ser)
c.2146C>A (p.Arg716Ser)
c.1828C>A (p.Arg610Ser)
c.1855C>A (p.Arg619Ser)
n.2081C>A
c.1570C>A (p.Arg524Ser)
c.1873C>A (p.Arg625Ser)
n.2379C>A
 gnomAD v4
19g.55308647C=CA2343355841BRSK1c.2098C= (p.Arg700=)
c.1183C= (p.Arg395=)
c.2146C= (p.Arg716=)
c.1828C= (p.Arg610=)
c.1855C= (p.Arg619=)
n.2081C=
c.1570C= (p.Arg524=)
c.1873C= (p.Arg625=)
n.2379C=
19g.55308647C>GCA407461790BRSK1c.2098C>G (p.Arg700Gly)
c.1183C>G (p.Arg395Gly)
c.2146C>G (p.Arg716Gly)
c.1828C>G (p.Arg610Gly)
c.1855C>G (p.Arg619Gly)
n.2081C>G
c.1570C>G (p.Arg524Gly)
c.1873C>G (p.Arg625Gly)
n.2379C>G
19g.55308647C>TCA407461791BRSK1c.2098C>T (p.Arg700Cys)
c.1183C>T (p.Arg395Cys)
c.2146C>T (p.Arg716Cys)
c.1828C>T (p.Arg610Cys)
c.1855C>T (p.Arg619Cys)
n.2081C>T
c.1570C>T (p.Arg524Cys)
c.1873C>T (p.Arg625Cys)
n.2379C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.55308648G>ACA9672683BRSK1c.2099G>A (p.Arg700His)
c.1184G>A (p.Arg395His)
c.2147G>A (p.Arg716His)
c.1829G>A (p.Arg610His)
c.1856G>A (p.Arg619His)
n.2082G>A
c.1571G>A (p.Arg524His)
c.1874G>A (p.Arg625His)
n.2380G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308648G>CCA407461793BRSK1c.2099G>C (p.Arg700Pro)
c.1184G>C (p.Arg395Pro)
c.2147G>C (p.Arg716Pro)
c.1829G>C (p.Arg610Pro)
c.1856G>C (p.Arg619Pro)
n.2082G>C
c.1571G>C (p.Arg524Pro)
c.1874G>C (p.Arg625Pro)
n.2380G>C
 gnomAD v4
19g.55308648G=CA2343355842BRSK1c.2099G= (p.Arg700=)
c.1184G= (p.Arg395=)
c.2147G= (p.Arg716=)
c.1829G= (p.Arg610=)
c.1856G= (p.Arg619=)
n.2082G=
c.1571G= (p.Arg524=)
c.1874G= (p.Arg625=)
n.2380G=
19g.55308648G>TCA407461794BRSK1c.2099G>T (p.Arg700Leu)
c.1184G>T (p.Arg395Leu)
c.2147G>T (p.Arg716Leu)
c.1829G>T (p.Arg610Leu)
c.1856G>T (p.Arg619Leu)
n.2082G>T
c.1571G>T (p.Arg524Leu)
c.1874G>T (p.Arg625Leu)
n.2380G>T
19g.55308649T>ACA508995455BRSK1c.2100T>A (p.Arg700=)
c.1185T>A (p.Arg395=)
c.2148T>A (p.Arg716=)
c.1830T>A (p.Arg610=)
c.1857T>A (p.Arg619=)
n.2083T>A
c.1572T>A (p.Arg524=)
c.1875T>A (p.Arg625=)
n.2381T>A
19g.55308649T>CCA508995454BRSK1c.2100T>C (p.Arg700=)
c.1185T>C (p.Arg395=)
c.2148T>C (p.Arg716=)
c.1830T>C (p.Arg610=)
c.1857T>C (p.Arg619=)
n.2083T>C
c.1572T>C (p.Arg524=)
c.1875T>C (p.Arg625=)
n.2381T>C
19g.55308649T>GCA508995452BRSK1c.2100T>G (p.Arg700=)
c.1185T>G (p.Arg395=)
c.2148T>G (p.Arg716=)
c.1830T>G (p.Arg610=)
c.1857T>G (p.Arg619=)
n.2083T>G
c.1572T>G (p.Arg524=)
c.1875T>G (p.Arg625=)
n.2381T>G
19g.55308650C>ACA508995456BRSK1c.2101C>A (p.Arg701=)
c.1186C>A (p.Arg396=)
c.2149C>A (p.Arg717=)
c.1831C>A (p.Arg611=)
c.1858C>A (p.Arg620=)
n.2084C>A
c.1573C>A (p.Arg525=)
c.1876C>A (p.Arg626=)
n.2382C>A
 gnomAD v4
19g.55308650C=CA2343355843BRSK1c.2101C= (p.Arg701=)
c.1186C= (p.Arg396=)
c.2149C= (p.Arg717=)
c.1831C= (p.Arg611=)
c.1858C= (p.Arg620=)
n.2084C=
c.1573C= (p.Arg525=)
c.1876C= (p.Arg626=)
n.2382C=
19g.55308650C>GCA407461795BRSK1c.2101C>G (p.Arg701Gly)
c.1186C>G (p.Arg396Gly)
c.2149C>G (p.Arg717Gly)
c.1831C>G (p.Arg611Gly)
c.1858C>G (p.Arg620Gly)
n.2084C>G
c.1573C>G (p.Arg525Gly)
c.1876C>G (p.Arg626Gly)
n.2382C>G
19g.55308650C>TCA9672684BRSK1c.2101C>T (p.Arg701Trp)
c.1186C>T (p.Arg396Trp)
c.2149C>T (p.Arg717Trp)
c.1831C>T (p.Arg611Trp)
c.1858C>T (p.Arg620Trp)
n.2084C>T
c.1573C>T (p.Arg525Trp)
c.1876C>T (p.Arg626Trp)
n.2382C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.55308651G>ACA407461797BRSK1c.2102G>A (p.Arg701Gln)
c.1187G>A (p.Arg396Gln)
c.2150G>A (p.Arg717Gln)
c.1832G>A (p.Arg611Gln)
c.1859G>A (p.Arg620Gln)
n.2085G>A
c.1574G>A (p.Arg525Gln)
c.1877G>A (p.Arg626Gln)
n.2383G>A
 gnomAD v4
19g.55308651G>CCA407461799BRSK1c.2102G>C (p.Arg701Pro)
c.1187G>C (p.Arg396Pro)
c.2150G>C (p.Arg717Pro)
c.1832G>C (p.Arg611Pro)
c.1859G>C (p.Arg620Pro)
n.2085G>C
c.1574G>C (p.Arg525Pro)
c.1877G>C (p.Arg626Pro)
n.2383G>C
 dbSNP gnomAD v2 gnomAD v4
19g.55308651G=CA2343355844BRSK1c.2102G= (p.Arg701=)
c.1187G= (p.Arg396=)
c.2150G= (p.Arg717=)
c.1832G= (p.Arg611=)
c.1859G= (p.Arg620=)
n.2085G=
c.1574G= (p.Arg525=)
c.1877G= (p.Arg626=)
n.2383G=
19g.55308651G>TCA407461801BRSK1c.2102G>T (p.Arg701Leu)
c.1187G>T (p.Arg396Leu)
c.2150G>T (p.Arg717Leu)
c.1832G>T (p.Arg611Leu)
c.1859G>T (p.Arg620Leu)
n.2085G>T
c.1574G>T (p.Arg525Leu)
c.1877G>T (p.Arg626Leu)
n.2383G>T
 gnomAD v4
19g.55308652G>ACA508995457BRSK1c.2103G>A (p.Arg701=)
c.1188G>A (p.Arg396=)
c.2151G>A (p.Arg717=)
c.1833G>A (p.Arg611=)
c.1860G>A (p.Arg620=)
n.2086G>A
c.1575G>A (p.Arg525=)
c.1878G>A (p.Arg626=)
n.2384G>A
19g.55308652G>CCA508995458BRSK1c.2103G>C (p.Arg701=)
c.1188G>C (p.Arg396=)
c.2151G>C (p.Arg717=)
c.1833G>C (p.Arg611=)
c.1860G>C (p.Arg620=)
n.2086G>C
c.1575G>C (p.Arg525=)
c.1878G>C (p.Arg626=)
n.2384G>C
19g.55308652G>TCA508995459BRSK1c.2103G>T (p.Arg701=)
c.1188G>T (p.Arg396=)
c.2151G>T (p.Arg717=)
c.1833G>T (p.Arg611=)
c.1860G>T (p.Arg620=)
n.2086G>T
c.1575G>T (p.Arg525=)
c.1878G>T (p.Arg626=)
n.2384G>T
19g.55308653T>ACA407461806BRSK1c.2104T>A (p.Phe702Ile)
c.1189T>A (p.Phe397Ile)
c.2152T>A (p.Phe718Ile)
c.1834T>A (p.Phe612Ile)
c.1861T>A (p.Phe621Ile)
n.2087T>A
c.1576T>A (p.Phe526Ile)
c.1879T>A (p.Phe627Ile)
n.2385T>A
19g.55308653T>CCA407461804BRSK1c.2104T>C (p.Phe702Leu)
c.1189T>C (p.Phe397Leu)
c.2152T>C (p.Phe718Leu)
c.1834T>C (p.Phe612Leu)
c.1861T>C (p.Phe621Leu)
n.2087T>C
c.1576T>C (p.Phe526Leu)
c.1879T>C (p.Phe627Leu)
n.2385T>C
19g.55308653T>GCA407461802BRSK1c.2104T>G (p.Phe702Val)
c.1189T>G (p.Phe397Val)
c.2152T>G (p.Phe718Val)
c.1834T>G (p.Phe612Val)
c.1861T>G (p.Phe621Val)
n.2087T>G
c.1576T>G (p.Phe526Val)
c.1879T>G (p.Phe627Val)
n.2385T>G
19g.55308654T>ACA407461811BRSK1c.2105T>A (p.Phe702Tyr)
c.1190T>A (p.Phe397Tyr)
c.2153T>A (p.Phe718Tyr)
c.1835T>A (p.Phe612Tyr)
c.1862T>A (p.Phe621Tyr)
n.2088T>A
c.1577T>A (p.Phe526Tyr)
c.1880T>A (p.Phe627Tyr)
n.2386T>A
19g.55308654T>CCA407461813BRSK1c.2105T>C (p.Phe702Ser)
c.1190T>C (p.Phe397Ser)
c.2153T>C (p.Phe718Ser)
c.1835T>C (p.Phe612Ser)
c.1862T>C (p.Phe621Ser)
n.2088T>C
c.1577T>C (p.Phe526Ser)
c.1880T>C (p.Phe627Ser)
n.2386T>C
19g.55308654T>GCA407461814BRSK1c.2105T>G (p.Phe702Cys)
c.1190T>G (p.Phe397Cys)
c.2153T>G (p.Phe718Cys)
c.1835T>G (p.Phe612Cys)
c.1862T>G (p.Phe621Cys)
n.2088T>G
c.1577T>G (p.Phe526Cys)
c.1880T>G (p.Phe627Cys)
n.2386T>G
19g.55308655C>ACA407461817BRSK1c.2106C>A (p.Phe702Leu)
c.1191C>A (p.Phe397Leu)
c.2154C>A (p.Phe718Leu)
c.1836C>A (p.Phe612Leu)
c.1863C>A (p.Phe621Leu)
n.2089C>A
c.1578C>A (p.Phe526Leu)
c.1881C>A (p.Phe627Leu)
n.2387C>A
19g.55308655C>GCA407461820BRSK1c.2106C>G (p.Phe702Leu)
c.1191C>G (p.Phe397Leu)
c.2154C>G (p.Phe718Leu)
c.1836C>G (p.Phe612Leu)
c.1863C>G (p.Phe621Leu)
n.2089C>G
c.1578C>G (p.Phe526Leu)
c.1881C>G (p.Phe627Leu)
n.2387C>G
19g.55308655C>TCA508995461BRSK1c.2106C>T (p.Phe702=)
c.1191C>T (p.Phe397=)
c.2154C>T (p.Phe718=)
c.1836C>T (p.Phe612=)
c.1863C>T (p.Phe621=)
n.2089C>T
c.1578C>T (p.Phe526=)
c.1881C>T (p.Phe627=)
n.2387C>T
19g.55308656A>CCA407461823BRSK1c.2107A>C (p.Lys703Gln)
c.1192A>C (p.Lys398Gln)
c.2155A>C (p.Lys719Gln)
c.1837A>C (p.Lys613Gln)
c.1864A>C (p.Lys622Gln)
n.2090A>C
c.1579A>C (p.Lys527Gln)
c.1882A>C (p.Lys628Gln)
n.2388A>C
19g.55308656A>GCA407461826BRSK1c.2107A>G (p.Lys703Glu)
c.1192A>G (p.Lys398Glu)
c.2155A>G (p.Lys719Glu)
c.1837A>G (p.Lys613Glu)
c.1864A>G (p.Lys622Glu)
n.2090A>G
c.1579A>G (p.Lys527Glu)
c.1882A>G (p.Lys628Glu)
n.2388A>G
19g.55308656A>TCA407461828BRSK1c.2107A>T (p.Lys703Ter)
c.1192A>T (p.Lys398Ter)
c.2155A>T (p.Lys719Ter)
c.1837A>T (p.Lys613Ter)
c.1864A>T (p.Lys622Ter)
n.2090A>T
c.1579A>T (p.Lys527Ter)
c.1882A>T (p.Lys628Ter)
n.2388A>T
19g.55308657A=CA2343355845BRSK1c.2108A= (p.Lys703=)
c.1193A= (p.Lys398=)
c.2156A= (p.Lys719=)
c.1838A= (p.Lys613=)
c.1865A= (p.Lys622=)
n.2091A=
c.1580A= (p.Lys527=)
c.1883A= (p.Lys628=)
n.2389A=
19g.55308657A>CCA407461830BRSK1c.2108A>C (p.Lys703Thr)
c.1193A>C (p.Lys398Thr)
c.2156A>C (p.Lys719Thr)
c.1838A>C (p.Lys613Thr)
c.1865A>C (p.Lys622Thr)
n.2091A>C
c.1580A>C (p.Lys527Thr)
c.1883A>C (p.Lys628Thr)
n.2389A>C
19g.55308657A>GCA9672685BRSK1c.2108A>G (p.Lys703Arg)
c.1193A>G (p.Lys398Arg)
c.2156A>G (p.Lys719Arg)
c.1838A>G (p.Lys613Arg)
c.1865A>G (p.Lys622Arg)
n.2091A>G
c.1580A>G (p.Lys527Arg)
c.1883A>G (p.Lys628Arg)
n.2389A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.55308657A>TCA407461832BRSK1c.2108A>T (p.Lys703Met)
c.1193A>T (p.Lys398Met)
c.2156A>T (p.Lys719Met)
c.1838A>T (p.Lys613Met)
c.1865A>T (p.Lys622Met)
n.2091A>T
c.1580A>T (p.Lys527Met)
c.1883A>T (p.Lys628Met)
n.2389A>T
19g.55308658G>ACA508995463BRSK1c.2109G>A (p.Lys703=)
c.1194G>A (p.Lys398=)
c.2157G>A (p.Lys719=)
c.1839G>A (p.Lys613=)
c.1866G>A (p.Lys622=)
n.2092G>A
c.1581G>A (p.Lys527=)
c.1884G>A (p.Lys628=)
n.2390G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.55308658G>CCA407461834BRSK1c.2109G>C (p.Lys703Asn)
c.1194G>C (p.Lys398Asn)
c.2157G>C (p.Lys719Asn)
c.1839G>C (p.Lys613Asn)
c.1866G>C (p.Lys622Asn)
n.2092G>C
c.1581G>C (p.Lys527Asn)
c.1884G>C (p.Lys628Asn)
n.2390G>C
19g.55308658G=CA2343355846BRSK1c.2109G= (p.Lys703=)
c.1194G= (p.Lys398=)
c.2157G= (p.Lys719=)
c.1839G= (p.Lys613=)
c.1866G= (p.Lys622=)
n.2092G=
c.1581G= (p.Lys527=)
c.1884G= (p.Lys628=)
n.2390G=
19g.55308658G>TCA407461836BRSK1c.2109G>T (p.Lys703Asn)
c.1194G>T (p.Lys398Asn)
c.2157G>T (p.Lys719Asn)
c.1839G>T (p.Lys613Asn)
c.1866G>T (p.Lys622Asn)
n.2092G>T
c.1581G>T (p.Lys527Asn)
c.1884G>T (p.Lys628Asn)
n.2390G>T
19g.55308659C>ACA508995466BRSK1c.2110C>A (p.Arg704=)
c.1195C>A (p.Arg399=)
c.2158C>A (p.Arg720=)
c.1840C>A (p.Arg614=)
c.1867C>A (p.Arg623=)
n.2093C>A
c.1582C>A (p.Arg528=)
c.1885C>A (p.Arg629=)
n.2391C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.55308659C=CA2343355847BRSK1c.2110C= (p.Arg704=)
c.1195C= (p.Arg399=)
c.2158C= (p.Arg720=)
c.1840C= (p.Arg614=)
c.1867C= (p.Arg623=)
n.2093C=
c.1582C= (p.Arg528=)
c.1885C= (p.Arg629=)
n.2391C=
19g.55308659C>GCA407461839BRSK1c.2110C>G (p.Arg704Gly)
c.1195C>G (p.Arg399Gly)
c.2158C>G (p.Arg720Gly)
c.1840C>G (p.Arg614Gly)
c.1867C>G (p.Arg623Gly)
n.2093C>G
c.1582C>G (p.Arg528Gly)
c.1885C>G (p.Arg629Gly)
n.2391C>G
19g.55308659C>TCA407461842BRSK1c.2110C>T (p.Arg704Ter)
c.1195C>T (p.Arg399Ter)
c.2158C>T (p.Arg720Ter)
c.1840C>T (p.Arg614Ter)
c.1867C>T (p.Arg623Ter)
n.2093C>T
c.1582C>T (p.Arg528Ter)
c.1885C>T (p.Arg629Ter)
n.2391C>T
19g.55308660G>ACA407461845BRSK1c.2111G>A (p.Arg704Gln)
c.1196G>A (p.Arg399Gln)
c.2159G>A (p.Arg720Gln)
c.1841G>A (p.Arg614Gln)
c.1868G>A (p.Arg623Gln)
n.2094G>A
c.1583G>A (p.Arg528Gln)
c.1886G>A (p.Arg629Gln)
n.2392G>A
 dbSNP gnomAD v4
19g.55308660G>CCA407461848BRSK1c.2111G>C (p.Arg704Pro)
c.1196G>C (p.Arg399Pro)
c.2159G>C (p.Arg720Pro)
c.1841G>C (p.Arg614Pro)
c.1868G>C (p.Arg623Pro)
n.2094G>C
c.1583G>C (p.Arg528Pro)
c.1886G>C (p.Arg629Pro)
n.2392G>C
 COSMIC
19g.55308660G=CA2343355848BRSK1c.2111G= (p.Arg704=)
c.1196G= (p.Arg399=)
c.2159G= (p.Arg720=)
c.1841G= (p.Arg614=)
c.1868G= (p.Arg623=)
n.2094G=
c.1583G= (p.Arg528=)
c.1886G= (p.Arg629=)
n.2392G=
19g.55308660G>TCA407461846BRSK1c.2111G>T (p.Arg704Leu)
c.1196G>T (p.Arg399Leu)
c.2159G>T (p.Arg720Leu)
c.1841G>T (p.Arg614Leu)
c.1868G>T (p.Arg623Leu)
n.2094G>T
c.1583G>T (p.Arg528Leu)
c.1886G>T (p.Arg629Leu)
n.2392G>T
19g.55308661A>CCA508995467BRSK1c.2112A>C (p.Arg704=)
c.1197A>C (p.Arg399=)
c.2160A>C (p.Arg720=)
c.1842A>C (p.Arg614=)
c.1869A>C (p.Arg623=)
n.2095A>C
c.1584A>C (p.Arg528=)
c.1887A>C (p.Arg629=)
n.2393A>C
19g.55308661A>GCA508995468BRSK1c.2112A>G (p.Arg704=)
c.1197A>G (p.Arg399=)
c.2160A>G (p.Arg720=)
c.1842A>G (p.Arg614=)
c.1869A>G (p.Arg623=)
n.2095A>G
c.1584A>G (p.Arg528=)
c.1887A>G (p.Arg629=)
n.2393A>G
19g.55308661A>TCA508995469BRSK1c.2112A>T (p.Arg704=)
c.1197A>T (p.Arg399=)
c.2160A>T (p.Arg720=)
c.1842A>T (p.Arg614=)
c.1869A>T (p.Arg623=)
n.2095A>T
c.1584A>T (p.Arg528=)
c.1887A>T (p.Arg629=)
n.2393A>T
19g.55308662G>ACA9672686BRSK1c.2113G>A (p.Val705Met)
c.1198G>A (p.Val400Met)
c.2161G>A (p.Val721Met)
c.1843G>A (p.Val615Met)
c.1870G>A (p.Val624Met)
n.2096G>A
c.1585G>A (p.Val529Met)
c.1888G>A (p.Val630Met)
n.2394G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.55308662G>CCA407461852BRSK1c.2113G>C (p.Val705Leu)
c.1198G>C (p.Val400Leu)
c.2161G>C (p.Val721Leu)
c.1843G>C (p.Val615Leu)
c.1870G>C (p.Val624Leu)
n.2096G>C
c.1585G>C (p.Val529Leu)
c.1888G>C (p.Val630Leu)
n.2394G>C
19g.55308662G=CA2343355849BRSK1c.2113G= (p.Val705=)
c.1198G= (p.Val400=)
c.2161G= (p.Val721=)
c.1843G= (p.Val615=)
c.1870G= (p.Val624=)
n.2096G=
c.1585G= (p.Val529=)
c.1888G= (p.Val630=)
n.2394G=
19g.55308662G>TCA407461859BRSK1c.2113G>T (p.Val705Leu)
c.1198G>T (p.Val400Leu)
c.2161G>T (p.Val721Leu)
c.1843G>T (p.Val615Leu)
c.1870G>T (p.Val624Leu)
n.2096G>T
c.1585G>T (p.Val529Leu)
c.1888G>T (p.Val630Leu)
n.2394G>T
 gnomAD v4
19g.55308663T>ACA407461861BRSK1c.2114T>A (p.Val705Glu)
c.1199T>A (p.Val400Glu)
c.2162T>A (p.Val721Glu)
c.1844T>A (p.Val615Glu)
c.1871T>A (p.Val624Glu)
n.2097T>A
c.1586T>A (p.Val529Glu)
c.1889T>A (p.Val630Glu)
n.2395T>A
19g.55308663T>CCA407461862BRSK1c.2114T>C (p.Val705Ala)
c.1199T>C (p.Val400Ala)
c.2162T>C (p.Val721Ala)
c.1844T>C (p.Val615Ala)
c.1871T>C (p.Val624Ala)
n.2097T>C
c.1586T>C (p.Val529Ala)
c.1889T>C (p.Val630Ala)
n.2395T>C
19g.55308663T>GCA407461864BRSK1c.2114T>G (p.Val705Gly)
c.1199T>G (p.Val400Gly)
c.2162T>G (p.Val721Gly)
c.1844T>G (p.Val615Gly)
c.1871T>G (p.Val624Gly)
n.2097T>G
c.1586T>G (p.Val529Gly)
c.1889T>G (p.Val630Gly)
n.2395T>G
19g.55308664G>ACA508995473BRSK1c.2115G>A (p.Val705=)
c.1200G>A (p.Val400=)
c.2163G>A (p.Val721=)
c.1845G>A (p.Val615=)
c.1872G>A (p.Val624=)
n.2098G>A
c.1587G>A (p.Val529=)
c.1890G>A (p.Val630=)
n.2396G>A
 dbSNP gnomAD v3 gnomAD v4
19g.55308664G>CCA508995474BRSK1c.2115G>C (p.Val705=)
c.1200G>C (p.Val400=)
c.2163G>C (p.Val721=)
c.1845G>C (p.Val615=)
c.1872G>C (p.Val624=)
n.2098G>C
c.1587G>C (p.Val529=)
c.1890G>C (p.Val630=)
n.2396G>C
19g.55308664G=CA2343355850BRSK1c.2115G= (p.Val705=)
c.1200G= (p.Val400=)
c.2163G= (p.Val721=)
c.1845G= (p.Val615=)
c.1872G= (p.Val624=)
n.2098G=
c.1587G= (p.Val529=)
c.1890G= (p.Val630=)
n.2396G=
19g.55308664G>TCA508995475BRSK1c.2115G>T (p.Val705=)
c.1200G>T (p.Val400=)
c.2163G>T (p.Val721=)
c.1845G>T (p.Val615=)
c.1872G>T (p.Val624=)
n.2098G>T
c.1587G>T (p.Val529=)
c.1890G>T (p.Val630=)
n.2396G>T
19g.55308665G>ACA407461866BRSK1c.2116G>A (p.Val706Met)
c.1201G>A (p.Val401Met)
c.2164G>A (p.Val722Met)
c.1846G>A (p.Val616Met)
c.1873G>A (p.Val625Met)
n.2099G>A
c.1588G>A (p.Val530Met)
c.1891G>A (p.Val631Met)
n.2397G>A
 gnomAD v4
19g.55308665G>CCA407461869BRSK1c.2116G>C (p.Val706Leu)
c.1201G>C (p.Val401Leu)
c.2164G>C (p.Val722Leu)
c.1846G>C (p.Val616Leu)
c.1873G>C (p.Val625Leu)
n.2099G>C
c.1588G>C (p.Val530Leu)
c.1891G>C (p.Val631Leu)
n.2397G>C
19g.55308665G>TCA407461870BRSK1c.2116G>T (p.Val706Leu)
c.1201G>T (p.Val401Leu)
c.2164G>T (p.Val722Leu)
c.1846G>T (p.Val616Leu)
c.1873G>T (p.Val625Leu)
n.2099G>T
c.1588G>T (p.Val530Leu)
c.1891G>T (p.Val631Leu)
n.2397G>T
 gnomAD v4
19g.55308666T>ACA407461872BRSK1c.2117T>A (p.Val706Glu)
c.1202T>A (p.Val401Glu)
c.2165T>A (p.Val722Glu)
c.1847T>A (p.Val616Glu)
c.1874T>A (p.Val625Glu)
n.2100T>A
c.1589T>A (p.Val530Glu)
c.1892T>A (p.Val631Glu)
n.2398T>A
19g.55308666T>CCA407461874BRSK1c.2117T>C (p.Val706Ala)
c.1202T>C (p.Val401Ala)
c.2165T>C (p.Val722Ala)
c.1847T>C (p.Val616Ala)
c.1874T>C (p.Val625Ala)
n.2100T>C
c.1589T>C (p.Val530Ala)
c.1892T>C (p.Val631Ala)
n.2398T>C
19g.55308666T>GCA407461875BRSK1c.2117T>G (p.Val706Gly)
c.1202T>G (p.Val401Gly)
c.2165T>G (p.Val722Gly)
c.1847T>G (p.Val616Gly)
c.1874T>G (p.Val625Gly)
n.2100T>G
c.1589T>G (p.Val530Gly)
c.1892T>G (p.Val631Gly)
n.2398T>G
19g.55308667G>ACA508995476BRSK1c.2118G>A (p.Val706=)
c.1203G>A (p.Val401=)
c.2166G>A (p.Val722=)
c.1848G>A (p.Val616=)
c.1875G>A (p.Val625=)
n.2101G>A
c.1590G>A (p.Val530=)
c.1893G>A (p.Val631=)
n.2399G>A
 gnomAD v4
19g.55308667G>CCA508995479BRSK1c.2118G>C (p.Val706=)
c.1203G>C (p.Val401=)
c.2166G>C (p.Val722=)
c.1848G>C (p.Val616=)
c.1875G>C (p.Val625=)
n.2101G>C
c.1590G>C (p.Val530=)
c.1893G>C (p.Val631=)
n.2399G>C
19g.55308667G>TCA508995480BRSK1c.2118G>T (p.Val706=)
c.1203G>T (p.Val401=)
c.2166G>T (p.Val722=)
c.1848G>T (p.Val616=)
c.1875G>T (p.Val625=)
n.2101G>T
c.1590G>T (p.Val530=)
c.1893G>T (p.Val631=)
n.2399G>T
19g.55308668G>ACA407461877BRSK1c.2119G>A (p.Glu707Lys)
c.1204G>A (p.Glu402Lys)
c.2167G>A (p.Glu723Lys)
c.1849G>A (p.Glu617Lys)
c.1876G>A (p.Glu626Lys)
n.2102G>A
c.1591G>A (p.Glu531Lys)
c.1894G>A (p.Glu632Lys)
n.2400G>A
 gnomAD v4
19g.55308668G>CCA407461881BRSK1c.2119G>C (p.Glu707Gln)
c.1204G>C (p.Glu402Gln)
c.2167G>C (p.Glu723Gln)
c.1849G>C (p.Glu617Gln)
c.1876G>C (p.Glu626Gln)
n.2102G>C
c.1591G>C (p.Glu531Gln)
c.1894G>C (p.Glu632Gln)
n.2400G>C
19g.55308668G>TCA407461878BRSK1c.2119G>T (p.Glu707Ter)
c.1204G>T (p.Glu402Ter)
c.2167G>T (p.Glu723Ter)
c.1849G>T (p.Glu617Ter)
c.1876G>T (p.Glu626Ter)
n.2102G>T
c.1591G>T (p.Glu531Ter)
c.1894G>T (p.Glu632Ter)
n.2400G>T
19g.55308669A=CA2343355851BRSK1c.2120A= (p.Glu707=)
c.1205A= (p.Glu402=)
c.2168A= (p.Glu723=)
c.1850A= (p.Glu617=)
c.1877A= (p.Glu626=)
n.2103A=
c.1592A= (p.Glu531=)
c.1895A= (p.Glu632=)
n.2401A=
19g.55308669A>CCA407461883BRSK1c.2120A>C (p.Glu707Ala)
c.1205A>C (p.Glu402Ala)
c.2168A>C (p.Glu723Ala)
c.1850A>C (p.Glu617Ala)
c.1877A>C (p.Glu626Ala)
n.2103A>C
c.1592A>C (p.Glu531Ala)
c.1895A>C (p.Glu632Ala)
n.2401A>C
19g.55308669A>GCA407461886BRSK1c.2120A>G (p.Glu707Gly)
c.1205A>G (p.Glu402Gly)
c.2168A>G (p.Glu723Gly)
c.1850A>G (p.Glu617Gly)
c.1877A>G (p.Glu626Gly)
n.2103A>G
c.1592A>G (p.Glu531Gly)
c.1895A>G (p.Glu632Gly)
n.2401A>G
 dbSNP
19g.55308669A>TCA407461889BRSK1c.2120A>T (p.Glu707Val)
c.1205A>T (p.Glu402Val)
c.2168A>T (p.Glu723Val)
c.1850A>T (p.Glu617Val)
c.1877A>T (p.Glu626Val)
n.2103A>T
c.1592A>T (p.Glu531Val)
c.1895A>T (p.Glu632Val)
n.2401A>T
 dbSNP gnomAD v3 gnomAD v4
19g.55308670G>ACA508995485BRSK1c.2121G>A (p.Glu707=)
c.1206G>A (p.Glu402=)
c.2169G>A (p.Glu723=)
c.1851G>A (p.Glu617=)
c.1878G>A (p.Glu626=)
n.2104G>A
c.1593G>A (p.Glu531=)
c.1896G>A (p.Glu632=)
n.2402G>A
19g.55308670G>CCA407461892BRSK1c.2121G>C (p.Glu707Asp)
c.1206G>C (p.Glu402Asp)
c.2169G>C (p.Glu723Asp)
c.1851G>C (p.Glu617Asp)
c.1878G>C (p.Glu626Asp)
n.2104G>C
c.1593G>C (p.Glu531Asp)
c.1896G>C (p.Glu632Asp)
n.2402G>C
19g.55308670G>TCA407461894BRSK1c.2121G>T (p.Glu707Asp)
c.1206G>T (p.Glu402Asp)
c.2169G>T (p.Glu723Asp)
c.1851G>T (p.Glu617Asp)
c.1878G>T (p.Glu626Asp)
n.2104G>T
c.1593G>T (p.Glu531Asp)
c.1896G>T (p.Glu632Asp)
n.2402G>T
19g.55308671A>CCA407461895BRSK1c.2122A>C (p.Thr708Pro)
c.1207A>C (p.Thr403Pro)
c.2170A>C (p.Thr724Pro)
c.1852A>C (p.Thr618Pro)
c.1879A>C (p.Thr627Pro)
n.2105A>C
c.1594A>C (p.Thr532Pro)
c.1897A>C (p.Thr633Pro)
n.2403A>C
19g.55308671A>GCA407461897BRSK1c.2122A>G (p.Thr708Ala)
c.1207A>G (p.Thr403Ala)
c.2170A>G (p.Thr724Ala)
c.1852A>G (p.Thr618Ala)
c.1879A>G (p.Thr627Ala)
n.2105A>G
c.1594A>G (p.Thr532Ala)
c.1897A>G (p.Thr633Ala)
n.2403A>G
19g.55308671A>TCA407461899BRSK1c.2122A>T (p.Thr708Ser)
c.1207A>T (p.Thr403Ser)
c.2170A>T (p.Thr724Ser)
c.1852A>T (p.Thr618Ser)
c.1879A>T (p.Thr627Ser)
n.2105A>T
c.1594A>T (p.Thr532Ser)
c.1897A>T (p.Thr633Ser)
n.2403A>T
19g.55308672C>ACA407461902BRSK1c.2123C>A (p.Thr708Asn)
c.1208C>A (p.Thr403Asn)
c.2171C>A (p.Thr724Asn)
c.1853C>A (p.Thr618Asn)
c.1880C>A (p.Thr627Asn)
n.2106C>A
c.1595C>A (p.Thr532Asn)
c.1898C>A (p.Thr633Asn)
n.2404C>A
19g.55308672C>GCA407461904BRSK1c.2123C>G (p.Thr708Ser)
c.1208C>G (p.Thr403Ser)
c.2171C>G (p.Thr724Ser)
c.1853C>G (p.Thr618Ser)
c.1880C>G (p.Thr627Ser)
n.2106C>G
c.1595C>G (p.Thr532Ser)
c.1898C>G (p.Thr633Ser)
n.2404C>G
19g.55308672C>TCA407461907BRSK1c.2123C>T (p.Thr708Ile)
c.1208C>T (p.Thr403Ile)
c.2171C>T (p.Thr724Ile)
c.1853C>T (p.Thr618Ile)
c.1880C>T (p.Thr627Ile)
n.2106C>T
c.1595C>T (p.Thr532Ile)
c.1898C>T (p.Thr633Ile)
n.2404C>T
19g.55308673C>ACA9672687BRSK1c.2124C>A (p.Thr708=)
c.1209C>A (p.Thr403=)
c.2172C>A (p.Thr724=)
c.1854C>A (p.Thr618=)
c.1881C>A (p.Thr627=)
n.2107C>A
c.1596C>A (p.Thr532=)
c.1899C>A (p.Thr633=)
n.2405C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.55308673C=CA2343355852BRSK1c.2124C= (p.Thr708=)
c.1209C= (p.Thr403=)
c.2172C= (p.Thr724=)
c.1854C= (p.Thr618=)
c.1881C= (p.Thr627=)
n.2107C=
c.1596C= (p.Thr532=)
c.1899C= (p.Thr633=)
n.2405C=
19g.55308673C>GCA508995490BRSK1c.2124C>G (p.Thr708=)
c.1209C>G (p.Thr403=)
c.2172C>G (p.Thr724=)
c.1854C>G (p.Thr618=)
c.1881C>G (p.Thr627=)
n.2107C>G
c.1596C>G (p.Thr532=)
c.1899C>G (p.Thr633=)
n.2405C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.55308673C>TCA508995488BRSK1c.2124C>T (p.Thr708=)
c.1209C>T (p.Thr403=)
c.2172C>T (p.Thr724=)
c.1854C>T (p.Thr618=)
c.1881C>T (p.Thr627=)
n.2107C>T
c.1596C>T (p.Thr532=)
c.1899C>T (p.Thr633=)
n.2405C>T
 gnomAD v4
19g.55308674A>CCA407461916BRSK1c.2125A>C (p.Ile709Leu)
c.1210A>C (p.Ile404Leu)
c.2173A>C (p.Ile725Leu)
c.1855A>C (p.Ile619Leu)
c.1882A>C (p.Ile628Leu)
n.2108A>C
c.1597A>C (p.Ile533Leu)
c.1900A>C (p.Ile634Leu)
n.2406A>C
19g.55308674A>GCA407461912BRSK1c.2125A>G (p.Ile709Val)
c.1210A>G (p.Ile404Val)
c.2173A>G (p.Ile725Val)
c.1855A>G (p.Ile619Val)
c.1882A>G (p.Ile628Val)
n.2108A>G
c.1597A>G (p.Ile533Val)
c.1900A>G (p.Ile634Val)
n.2406A>G
19g.55308674A>TCA407461914BRSK1c.2125A>T (p.Ile709Phe)
c.1210A>T (p.Ile404Phe)
c.2173A>T (p.Ile725Phe)
c.1855A>T (p.Ile619Phe)
c.1882A>T (p.Ile628Phe)
n.2108A>T
c.1597A>T (p.Ile533Phe)
c.1900A>T (p.Ile634Phe)
n.2406A>T
19g.55308675T>ACA407461919BRSK1c.2126T>A (p.Ile709Asn)
c.1211T>A (p.Ile404Asn)
c.2174T>A (p.Ile725Asn)
c.1856T>A (p.Ile619Asn)
c.1883T>A (p.Ile628Asn)
n.2109T>A
c.1598T>A (p.Ile533Asn)
c.1901T>A (p.Ile634Asn)
n.2407T>A
19g.55308675T>CCA407461922BRSK1c.2126T>C (p.Ile709Thr)
c.1211T>C (p.Ile404Thr)
c.2174T>C (p.Ile725Thr)
c.1856T>C (p.Ile619Thr)
c.1883T>C (p.Ile628Thr)
n.2109T>C
c.1598T>C (p.Ile533Thr)
c.1901T>C (p.Ile634Thr)
n.2407T>C
19g.55308675T>GCA407461924BRSK1c.2126T>G (p.Ile709Ser)
c.1211T>G (p.Ile404Ser)
c.2174T>G (p.Ile725Ser)
c.1856T>G (p.Ile619Ser)
c.1883T>G (p.Ile628Ser)
n.2109T>G
c.1598T>G (p.Ile533Ser)
c.1901T>G (p.Ile634Ser)
n.2407T>G
19g.55308676C>ACA508995493BRSK1c.2127C>A (p.Ile709=)
c.1212C>A (p.Ile404=)
c.2175C>A (p.Ile725=)
c.1857C>A (p.Ile619=)
c.1884C>A (p.Ile628=)
n.2110C>A
c.1599C>A (p.Ile533=)
c.1902C>A (p.Ile634=)
n.2408C>A
19g.55308676C>GCA407461927BRSK1c.2127C>G (p.Ile709Met)
c.1212C>G (p.Ile404Met)
c.2175C>G (p.Ile725Met)
c.1857C>G (p.Ile619Met)
c.1884C>G (p.Ile628Met)
n.2110C>G
c.1599C>G (p.Ile533Met)
c.1902C>G (p.Ile634Met)
n.2408C>G
19g.55308676C>TCA508995494BRSK1c.2127C>T (p.Ile709=)
c.1212C>T (p.Ile404=)
c.2175C>T (p.Ile725=)
c.1857C>T (p.Ile619=)
c.1884C>T (p.Ile628=)
n.2110C>T
c.1599C>T (p.Ile533=)
c.1902C>T (p.Ile634=)
n.2408C>T
 gnomAD v4
19g.55308677C>ACA407461930BRSK1c.2128C>A (p.Gln710Lys)
c.1213C>A (p.Gln405Lys)
c.2176C>A (p.Gln726Lys)
c.1858C>A (p.Gln620Lys)
c.1885C>A (p.Gln629Lys)
n.2111C>A
c.1600C>A (p.Gln534Lys)
c.1903C>A (p.Gln635Lys)
n.2409C>A
19g.55308677C=CA2343355853BRSK1c.2128C= (p.Gln710=)
c.1213C= (p.Gln405=)
c.2176C= (p.Gln726=)
c.1858C= (p.Gln620=)
c.1885C= (p.Gln629=)
n.2111C=
c.1600C= (p.Gln534=)
c.1903C= (p.Gln635=)
n.2409C=
19g.55308677C>GCA407461933BRSK1c.2128C>G (p.Gln710Glu)
c.1213C>G (p.Gln405Glu)
c.2176C>G (p.Gln726Glu)
c.1858C>G (p.Gln620Glu)
c.1885C>G (p.Gln629Glu)
n.2111C>G
c.1600C>G (p.Gln534Glu)
c.1903C>G (p.Gln635Glu)
n.2409C>G
19g.55308677C>TCA9672688BRSK1c.2128C>T (p.Gln710Ter)
c.1213C>T (p.Gln405Ter)
c.2176C>T (p.Gln726Ter)
c.1858C>T (p.Gln620Ter)
c.1885C>T (p.Gln629Ter)
n.2111C>T
c.1600C>T (p.Gln534Ter)
c.1903C>T (p.Gln635Ter)
n.2409C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.55308678A=CA2343355854BRSK1c.2129A= (p.Gln710=)
c.1214A= (p.Gln405=)
c.2177A= (p.Gln726=)
c.1859A= (p.Gln620=)
c.1886A= (p.Gln629=)
n.2112A=
c.1601A= (p.Gln534=)
c.1904A= (p.Gln635=)
n.2410A=
19g.55308678A>CCA407461937BRSK1c.2129A>C (p.Gln710Pro)
c.1214A>C (p.Gln405Pro)
c.2177A>C (p.Gln726Pro)
c.1859A>C (p.Gln620Pro)
c.1886A>C (p.Gln629Pro)
n.2112A>C
c.1601A>C (p.Gln534Pro)
c.1904A>C (p.Gln635Pro)
n.2410A>C
19g.55308678A>GCA407461938BRSK1c.2129A>G (p.Gln710Arg)
c.1214A>G (p.Gln405Arg)
c.2177A>G (p.Gln726Arg)
c.1859A>G (p.Gln620Arg)
c.1886A>G (p.Gln629Arg)
n.2112A>G
c.1601A>G (p.Gln534Arg)
c.1904A>G (p.Gln635Arg)
n.2410A>G
19g.55308678A>TCA407461939BRSK1c.2129A>T (p.Gln710Leu)
c.1214A>T (p.Gln405Leu)
c.2177A>T (p.Gln726Leu)
c.1859A>T (p.Gln620Leu)
c.1886A>T (p.Gln629Leu)
n.2112A>T
c.1601A>T (p.Gln534Leu)
c.1904A>T (p.Gln635Leu)
n.2410A>T
 dbSNP gnomAD v4
19g.55308679G>ACA508995496BRSK1c.2130G>A (p.Gln710=)
c.1215G>A (p.Gln405=)
c.2178G>A (p.Gln726=)
c.1860G>A (p.Gln620=)
c.1887G>A (p.Gln629=)
n.2113G>A
c.1602G>A (p.Gln534=)
c.1905G>A (p.Gln635=)
n.2411G>A
19g.55308679G>CCA407461943BRSK1c.2130G>C (p.Gln710His)
c.1215G>C (p.Gln405His)
c.2178G>C (p.Gln726His)
c.1860G>C (p.Gln620His)
c.1887G>C (p.Gln629His)
n.2113G>C
c.1602G>C (p.Gln534His)
c.1905G>C (p.Gln635His)
n.2411G>C
19g.55308679G>TCA407461946BRSK1c.2130G>T (p.Gln710His)
c.1215G>T (p.Gln405His)
c.2178G>T (p.Gln726His)
c.1860G>T (p.Gln620His)
c.1887G>T (p.Gln629His)
n.2113G>T
c.1602G>T (p.Gln534His)
c.1905G>T (p.Gln635His)
n.2411G>T
19g.55308680G>ACA407461952BRSK1c.2131G>A (p.Ala711Thr)
c.1216G>A (p.Ala406Thr)
c.2179G>A (p.Ala727Thr)
c.1861G>A (p.Ala621Thr)
c.1888G>A (p.Ala630Thr)
n.2114G>A
c.1603G>A (p.Ala535Thr)
c.1906G>A (p.Ala636Thr)
n.2412G>A
 dbSNP
19g.55308680G>CCA407461955BRSK1c.2131G>C (p.Ala711Pro)
c.1216G>C (p.Ala406Pro)
c.2179G>C (p.Ala727Pro)
c.1861G>C (p.Ala621Pro)
c.1888G>C (p.Ala630Pro)
n.2114G>C
c.1603G>C (p.Ala535Pro)
c.1906G>C (p.Ala636Pro)
n.2412G>C
19g.55308680G>TCA407461950BRSK1c.2131G>T (p.Ala711Ser)
c.1216G>T (p.Ala406Ser)
c.2179G>T (p.Ala727Ser)
c.1861G>T (p.Ala621Ser)
c.1888G>T (p.Ala630Ser)
n.2114G>T
c.1603G>T (p.Ala535Ser)
c.1906G>T (p.Ala636Ser)
n.2412G>T
19g.55308681C>ACA407461961BRSK1c.2132C>A (p.Ala711Glu)
c.1217C>A (p.Ala406Glu)
c.2180C>A (p.Ala727Glu)
c.1862C>A (p.Ala621Glu)
c.1889C>A (p.Ala630Glu)
n.2115C>A
c.1604C>A (p.Ala535Glu)
c.1907C>A (p.Ala636Glu)
n.2413C>A
19g.55308681C>GCA407461958BRSK1c.2132C>G (p.Ala711Gly)
c.1217C>G (p.Ala406Gly)
c.2180C>G (p.Ala727Gly)
c.1862C>G (p.Ala621Gly)
c.1889C>G (p.Ala630Gly)
n.2115C>G
c.1604C>G (p.Ala535Gly)
c.1907C>G (p.Ala636Gly)
n.2413C>G
19g.55308681C>TCA407461963BRSK1c.2132C>T (p.Ala711Val)
c.1217C>T (p.Ala406Val)
c.2180C>T (p.Ala727Val)
c.1862C>T (p.Ala621Val)
c.1889C>T (p.Ala630Val)
n.2115C>T
c.1604C>T (p.Ala535Val)
c.1907C>T (p.Ala636Val)
n.2413C>T
19g.55308682A=CA2343355855BRSK1c.2133A= (p.Ala711=)
c.1218A= (p.Ala406=)
c.2181A= (p.Ala727=)
c.1863A= (p.Ala621=)
c.1890A= (p.Ala630=)
n.2116A=
c.1605A= (p.Ala535=)
c.1908A= (p.Ala636=)
n.2414A=
19g.55308682A>CCA508995500BRSK1c.2133A>C (p.Ala711=)
c.1218A>C (p.Ala406=)
c.2181A>C (p.Ala727=)
c.1863A>C (p.Ala621=)
c.1890A>C (p.Ala630=)
n.2116A>C
c.1605A>C (p.Ala535=)
c.1908A>C (p.Ala636=)
n.2414A>C
19g.55308682A>GCA310135234BRSK1c.2133A>G (p.Ala711=)
c.1218A>G (p.Ala406=)
c.2181A>G (p.Ala727=)
c.1863A>G (p.Ala621=)
c.1890A>G (p.Ala630=)
n.2116A>G
c.1605A>G (p.Ala535=)
c.1908A>G (p.Ala636=)
n.2414A>G
 dbSNP gnomAD v4
19g.55308682A>TCA508995501BRSK1c.2133A>T (p.Ala711=)
c.1218A>T (p.Ala406=)
c.2181A>T (p.Ala727=)
c.1863A>T (p.Ala621=)
c.1890A>T (p.Ala630=)
n.2116A>T
c.1605A>T (p.Ala535=)
c.1908A>T (p.Ala636=)
n.2414A>T
19g.55308683C>ACA407461967BRSK1c.2134C>A (p.Gln712Lys)
c.1219C>A (p.Gln407Lys)
c.2182C>A (p.Gln728Lys)
c.1864C>A (p.Gln622Lys)
c.1891C>A (p.Gln631Lys)
n.2117C>A
c.1606C>A (p.Gln536Lys)
c.1909C>A (p.Gln637Lys)
n.2415C>A
19g.55308683C>GCA407461968BRSK1c.2134C>G (p.Gln712Glu)
c.1219C>G (p.Gln407Glu)
c.2182C>G (p.Gln728Glu)
c.1864C>G (p.Gln622Glu)
c.1891C>G (p.Gln631Glu)
n.2117C>G
c.1606C>G (p.Gln536Glu)
c.1909C>G (p.Gln637Glu)
n.2415C>G
19g.55308683C>TCA407461970BRSK1c.2134C>T (p.Gln712Ter)
c.1219C>T (p.Gln407Ter)
c.2182C>T (p.Gln728Ter)
c.1864C>T (p.Gln622Ter)
c.1891C>T (p.Gln631Ter)
n.2117C>T
c.1606C>T (p.Gln536Ter)
c.1909C>T (p.Gln637Ter)
n.2415C>T
19g.55308684A>CCA407461972BRSK1c.2135A>C (p.Gln712Pro)
c.1220A>C (p.Gln407Pro)
c.2183A>C (p.Gln728Pro)
c.1865A>C (p.Gln622Pro)
c.1892A>C (p.Gln631Pro)
n.2118A>C
c.1607A>C (p.Gln536Pro)
c.1910A>C (p.Gln637Pro)
n.2416A>C
19g.55308684A>GCA407461973BRSK1c.2135A>G (p.Gln712Arg)
c.1220A>G (p.Gln407Arg)
c.2183A>G (p.Gln728Arg)
c.1865A>G (p.Gln622Arg)
c.1892A>G (p.Gln631Arg)
n.2118A>G
c.1607A>G (p.Gln536Arg)
c.1910A>G (p.Gln637Arg)
n.2416A>G
19g.55308684A>TCA407461974BRSK1c.2135A>T (p.Gln712Leu)
c.1220A>T (p.Gln407Leu)
c.2183A>T (p.Gln728Leu)
c.1865A>T (p.Gln622Leu)
c.1892A>T (p.Gln631Leu)
n.2118A>T
c.1607A>T (p.Gln536Leu)
c.1910A>T (p.Gln637Leu)
n.2416A>T
19g.55308685G>ACA508995505BRSK1c.2136G>A (p.Gln712=)
c.1221G>A (p.Gln407=)
c.2184G>A (p.Gln728=)
c.1866G>A (p.Gln622=)
c.1893G>A (p.Gln631=)
n.2119G>A
c.1608G>A (p.Gln536=)
c.1911G>A (p.Gln637=)
n.2417G>A
19g.55308685G>CCA407461975BRSK1c.2136G>C (p.Gln712His)
c.1221G>C (p.Gln407His)
c.2184G>C (p.Gln728His)
c.1866G>C (p.Gln622His)
c.1893G>C (p.Gln631His)
n.2119G>C
c.1608G>C (p.Gln536His)
c.1911G>C (p.Gln637His)
n.2417G>C
 gnomAD v4
19g.55308685G>TCA407461976BRSK1c.2136G>T (p.Gln712His)
c.1221G>T (p.Gln407His)
c.2184G>T (p.Gln728His)
c.1866G>T (p.Gln622His)
c.1893G>T (p.Gln631His)
n.2119G>T
c.1608G>T (p.Gln536His)
c.1911G>T (p.Gln637His)
n.2417G>T
19g.55308686C>ACA9672689BRSK1c.2137C>A (p.Leu713Ile)
c.1222C>A (p.Leu408Ile)
c.2185C>A (p.Leu729Ile)
c.1867C>A (p.Leu623Ile)
c.1894C>A (p.Leu632Ile)
n.2120C>A
c.1609C>A (p.Leu537Ile)
c.1912C>A (p.Leu638Ile)
n.2418C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.55308686C=CA2343355856BRSK1c.2137C= (p.Leu713=)
c.1222C= (p.Leu408=)
c.2185C= (p.Leu729=)
c.1867C= (p.Leu623=)
c.1894C= (p.Leu632=)
n.2120C=
c.1609C= (p.Leu537=)
c.1912C= (p.Leu638=)
n.2418C=
19g.55308686C>GCA407461979BRSK1c.2137C>G (p.Leu713Val)
c.1222C>G (p.Leu408Val)
c.2185C>G (p.Leu729Val)
c.1867C>G (p.Leu623Val)
c.1894C>G (p.Leu632Val)
n.2120C>G
c.1609C>G (p.Leu537Val)
c.1912C>G (p.Leu638Val)
n.2418C>G
19g.55308686C>TCA407461981BRSK1c.2137C>T (p.Leu713Phe)
c.1222C>T (p.Leu408Phe)
c.2185C>T (p.Leu729Phe)
c.1867C>T (p.Leu623Phe)
c.1894C>T (p.Leu632Phe)
n.2120C>T
c.1609C>T (p.Leu537Phe)
c.1912C>T (p.Leu638Phe)
n.2418C>T
19g.55308687T>ACA407461983BRSK1c.2138T>A (p.Leu713His)
c.1223T>A (p.Leu408His)
c.2186T>A (p.Leu729His)
c.1868T>A (p.Leu623His)
c.1895T>A (p.Leu632His)
n.2121T>A
c.1610T>A (p.Leu537His)
c.1913T>A (p.Leu638His)
n.2419T>A
19g.55308687T>CCA407461985BRSK1c.2138T>C (p.Leu713Pro)
c.1223T>C (p.Leu408Pro)
c.2186T>C (p.Leu729Pro)
c.1868T>C (p.Leu623Pro)
c.1895T>C (p.Leu632Pro)
n.2121T>C
c.1610T>C (p.Leu537Pro)
c.1913T>C (p.Leu638Pro)
n.2419T>C
 dbSNP
19g.55308687T>GCA407461987BRSK1c.2138T>G (p.Leu713Arg)
c.1223T>G (p.Leu408Arg)
c.2186T>G (p.Leu729Arg)
c.1868T>G (p.Leu623Arg)
c.1895T>G (p.Leu632Arg)
n.2121T>G
c.1610T>G (p.Leu537Arg)
c.1913T>G (p.Leu638Arg)
n.2419T>G
19g.55308687T=CA2343355857BRSK1c.2138T= (p.Leu713=)
c.1223T= (p.Leu408=)
c.2186T= (p.Leu729=)
c.1868T= (p.Leu623=)
c.1895T= (p.Leu632=)
n.2121T=
c.1610T= (p.Leu537=)
c.1913T= (p.Leu638=)
n.2419T=
19g.55308688C>ACA508995506BRSK1c.2139C>A (p.Leu713=)
c.1224C>A (p.Leu408=)
c.2187C>A (p.Leu729=)
c.1869C>A (p.Leu623=)
c.1896C>A (p.Leu632=)
n.2122C>A
c.1611C>A (p.Leu537=)
c.1914C>A (p.Leu638=)
n.2420C>A
19g.55308688C=CA2343355858BRSK1c.2139C= (p.Leu713=)
c.1224C= (p.Leu408=)
c.2187C= (p.Leu729=)
c.1869C= (p.Leu623=)
c.1896C= (p.Leu632=)
n.2122C=
c.1611C= (p.Leu537=)
c.1914C= (p.Leu638=)
n.2420C=
19g.55308688C>GCA508995507BRSK1c.2139C>G (p.Leu713=)
c.1224C>G (p.Leu408=)
c.2187C>G (p.Leu729=)
c.1869C>G (p.Leu623=)
c.1896C>G (p.Leu632=)
n.2122C>G
c.1611C>G (p.Leu537=)
c.1914C>G (p.Leu638=)
n.2420C>G
19g.55308688C>TCA508995508BRSK1c.2139C>T (p.Leu713=)
c.1224C>T (p.Leu408=)
c.2187C>T (p.Leu729=)
c.1869C>T (p.Leu623=)
c.1896C>T (p.Leu632=)
n.2122C>T
c.1611C>T (p.Leu537=)
c.1914C>T (p.Leu638=)
n.2420C>T
 dbSNP gnomAD v2
19g.55308689C>ACA407461991BRSK1c.2140C>A (p.Leu714Met)
c.1225C>A (p.Leu409Met)
c.2188C>A (p.Leu730Met)
c.1870C>A (p.Leu624Met)
c.1897C>A (p.Leu633Met)
n.2123C>A
c.1612C>A (p.Leu538Met)
c.1915C>A (p.Leu639Met)
n.2421C>A
19g.55308689C=CA2343355859BRSK1c.2140C= (p.Leu714=)
c.1225C= (p.Leu409=)
c.2188C= (p.Leu730=)
c.1870C= (p.Leu624=)
c.1897C= (p.Leu633=)
n.2123C=
c.1612C= (p.Leu538=)
c.1915C= (p.Leu639=)
n.2421C=
19g.55308689C>GCA407461989BRSK1c.2140C>G (p.Leu714Val)
c.1225C>G (p.Leu409Val)
c.2188C>G (p.Leu730Val)
c.1870C>G (p.Leu624Val)
c.1897C>G (p.Leu633Val)
n.2123C>G
c.1612C>G (p.Leu538Val)
c.1915C>G (p.Leu639Val)
n.2421C>G
19g.55308689C>TCA508995511BRSK1c.2140C>T (p.Leu714=)
c.1225C>T (p.Leu409=)
c.2188C>T (p.Leu730=)
c.1870C>T (p.Leu624=)
c.1897C>T (p.Leu633=)
n.2123C>T
c.1612C>T (p.Leu538=)
c.1915C>T (p.Leu639=)
n.2421C>T
 dbSNP
19g.55308690T>ACA407461995BRSK1c.2141T>A (p.Leu714Gln)
c.1226T>A (p.Leu409Gln)
c.2189T>A (p.Leu730Gln)
c.1871T>A (p.Leu624Gln)
c.1898T>A (p.Leu633Gln)
n.2124T>A
c.1613T>A (p.Leu538Gln)
c.1916T>A (p.Leu639Gln)
n.2422T>A
19g.55308690T>CCA407461996BRSK1c.2141T>C (p.Leu714Pro)
c.1226T>C (p.Leu409Pro)
c.2189T>C (p.Leu730Pro)
c.1871T>C (p.Leu624Pro)
c.1898T>C (p.Leu633Pro)
n.2124T>C
c.1613T>C (p.Leu538Pro)
c.1916T>C (p.Leu639Pro)
n.2422T>C
19g.55308690T>GCA407462000BRSK1c.2141T>G (p.Leu714Arg)
c.1226T>G (p.Leu409Arg)
c.2189T>G (p.Leu730Arg)
c.1871T>G (p.Leu624Arg)
c.1898T>G (p.Leu633Arg)
n.2124T>G
c.1613T>G (p.Leu538Arg)
c.1916T>G (p.Leu639Arg)
n.2422T>G
19g.55308691G>ACA508995513BRSK1c.2142G>A (p.Leu714=)
c.1227G>A (p.Leu409=)
c.2190G>A (p.Leu730=)
c.1872G>A (p.Leu624=)
c.1899G>A (p.Leu633=)
n.2125G>A
c.1614G>A (p.Leu538=)
c.1917G>A (p.Leu639=)
n.2423G>A
 gnomAD v4
19g.55308691G>CCA508995514BRSK1c.2142G>C (p.Leu714=)
c.1227G>C (p.Leu409=)
c.2190G>C (p.Leu730=)
c.1872G>C (p.Leu624=)
c.1899G>C (p.Leu633=)
n.2125G>C
c.1614G>C (p.Leu538=)
c.1917G>C (p.Leu639=)
n.2423G>C
 gnomAD v4
19g.55308691G>TCA508995515BRSK1c.2142G>T (p.Leu714=)
c.1227G>T (p.Leu409=)
c.2190G>T (p.Leu730=)
c.1872G>T (p.Leu624=)
c.1899G>T (p.Leu633=)
n.2125G>T
c.1614G>T (p.Leu538=)
c.1917G>T (p.Leu639=)
n.2423G>T
19g.55308692A>CCA407462001BRSK1c.2143A>C (p.Ser715Arg)
c.1228A>C (p.Ser410Arg)
c.2191A>C (p.Ser731Arg)
c.1873A>C (p.Ser625Arg)
c.1900A>C (p.Ser634Arg)
n.2126A>C
c.1615A>C (p.Ser539Arg)
c.1918A>C (p.Ser640Arg)
n.2424A>C
19g.55308692A>GCA407462002BRSK1c.2143A>G (p.Ser715Gly)
c.1228A>G (p.Ser410Gly)
c.2191A>G (p.Ser731Gly)
c.1873A>G (p.Ser625Gly)
c.1900A>G (p.Ser634Gly)
n.2126A>G
c.1615A>G (p.Ser539Gly)
c.1918A>G (p.Ser640Gly)
n.2424A>G
19g.55308692A>TCA407462003BRSK1c.2143A>T (p.Ser715Cys)
c.1228A>T (p.Ser410Cys)
c.2191A>T (p.Ser731Cys)
c.1873A>T (p.Ser625Cys)
c.1900A>T (p.Ser634Cys)
n.2126A>T
c.1615A>T (p.Ser539Cys)
c.1918A>T (p.Ser640Cys)
n.2424A>T
19g.55308693G>ACA407462009BRSK1c.2144G>A (p.Ser715Asn)
c.1229G>A (p.Ser410Asn)
c.2192G>A (p.Ser731Asn)
c.1874G>A (p.Ser625Asn)
c.1901G>A (p.Ser634Asn)
n.2127G>A
c.1616G>A (p.Ser539Asn)
c.1919G>A (p.Ser640Asn)
n.2425G>A
19g.55308693G>CCA407462005BRSK1c.2144G>C (p.Ser715Thr)
c.1229G>C (p.Ser410Thr)
c.2192G>C (p.Ser731Thr)
c.1874G>C (p.Ser625Thr)
c.1901G>C (p.Ser634Thr)
n.2127G>C
c.1616G>C (p.Ser539Thr)
c.1919G>C (p.Ser640Thr)
n.2425G>C
19g.55308693G>TCA407462008BRSK1c.2144G>T (p.Ser715Ile)
c.1229G>T (p.Ser410Ile)
c.2192G>T (p.Ser731Ile)
c.1874G>T (p.Ser625Ile)
c.1901G>T (p.Ser634Ile)
n.2127G>T
c.1616G>T (p.Ser539Ile)
c.1919G>T (p.Ser640Ile)
n.2425G>T
19g.55308694C>ACA407462010BRSK1c.2145C>A (p.Ser715Arg)
c.1230C>A (p.Ser410Arg)
c.2193C>A (p.Ser731Arg)
c.1875C>A (p.Ser625Arg)
c.1902C>A (p.Ser634Arg)
n.2128C>A
c.1617C>A (p.Ser539Arg)
c.1920C>A (p.Ser640Arg)
n.2426C>A
19g.55308694C=CA2343355860BRSK1c.2145C= (p.Ser715=)
c.1230C= (p.Ser410=)
c.2193C= (p.Ser731=)
c.1875C= (p.Ser625=)
c.1902C= (p.Ser634=)
n.2128C=
c.1617C= (p.Ser539=)
c.1920C= (p.Ser640=)
n.2426C=
19g.55308694C>GCA407462012BRSK1c.2145C>G (p.Ser715Arg)
c.1230C>G (p.Ser410Arg)
c.2193C>G (p.Ser731Arg)
c.1875C>G (p.Ser625Arg)
c.1902C>G (p.Ser634Arg)
n.2128C>G
c.1617C>G (p.Ser539Arg)
c.1920C>G (p.Ser640Arg)
n.2426C>G
19g.55308694C>TCA508995519BRSK1c.2145C>T (p.Ser715=)
c.1230C>T (p.Ser410=)
c.2193C>T (p.Ser731=)
c.1875C>T (p.Ser625=)
c.1902C>T (p.Ser634=)
n.2128C>T
c.1617C>T (p.Ser539=)
c.1920C>T (p.Ser640=)
n.2426C>T
 dbSNP gnomAD v3 gnomAD v4
19g.55308695A=CA2343355861BRSK1c.2146A= (p.Thr716=)
c.1231A= (p.Thr411=)
c.2194A= (p.Thr732=)
c.1876A= (p.Thr626=)
c.1903A= (p.Thr635=)
n.2129A=
c.1618A= (p.Thr540=)
c.1921A= (p.Thr641=)
n.2427A=
19g.55308695A>CCA407462016BRSK1c.2146A>C (p.Thr716Pro)
c.1231A>C (p.Thr411Pro)
c.2194A>C (p.Thr732Pro)
c.1876A>C (p.Thr626Pro)
c.1903A>C (p.Thr635Pro)
n.2129A>C
c.1618A>C (p.Thr540Pro)
c.1921A>C (p.Thr641Pro)
n.2427A>C
 gnomAD v4
19g.55308695A>GCA407462030BRSK1c.2146A>G (p.Thr716Ala)
c.1231A>G (p.Thr411Ala)
c.2194A>G (p.Thr732Ala)
c.1876A>G (p.Thr626Ala)
c.1903A>G (p.Thr635Ala)
n.2129A>G
c.1618A>G (p.Thr540Ala)
c.1921A>G (p.Thr641Ala)
n.2427A>G
 dbSNP gnomAD v2
19g.55308695A>TCA407462032BRSK1c.2146A>T (p.Thr716Ser)
c.1231A>T (p.Thr411Ser)
c.2194A>T (p.Thr732Ser)
c.1876A>T (p.Thr626Ser)
c.1903A>T (p.Thr635Ser)
n.2129A>T
c.1618A>T (p.Thr540Ser)
c.1921A>T (p.Thr641Ser)
n.2427A>T
19g.55308696C>ACA407462035BRSK1c.2147C>A (p.Thr716Asn)
c.1232C>A (p.Thr411Asn)
c.2195C>A (p.Thr732Asn)
c.1877C>A (p.Thr626Asn)
c.1904C>A (p.Thr635Asn)
n.2130C>A
c.1619C>A (p.Thr540Asn)
c.1922C>A (p.Thr641Asn)
n.2428C>A
19g.55308696C>GCA407462039BRSK1c.2147C>G (p.Thr716Ser)
c.1232C>G (p.Thr411Ser)
c.2195C>G (p.Thr732Ser)
c.1877C>G (p.Thr626Ser)
c.1904C>G (p.Thr635Ser)
n.2130C>G
c.1619C>G (p.Thr540Ser)
c.1922C>G (p.Thr641Ser)
n.2428C>G
19g.55308696C>TCA407462036BRSK1c.2147C>T (p.Thr716Ile)
c.1232C>T (p.Thr411Ile)
c.2195C>T (p.Thr732Ile)
c.1877C>T (p.Thr626Ile)
c.1904C>T (p.Thr635Ile)
n.2130C>T
c.1619C>T (p.Thr540Ile)
c.1922C>T (p.Thr641Ile)
n.2428C>T
 gnomAD v4
19g.55308697T>ACA508995520BRSK1c.2148T>A (p.Thr716=)
c.1233T>A (p.Thr411=)
c.2196T>A (p.Thr732=)
c.1878T>A (p.Thr626=)
c.1905T>A (p.Thr635=)
n.2131T>A
c.1620T>A (p.Thr540=)
c.1923T>A (p.Thr641=)
n.2429T>A
19g.55308697T>CCA508995521BRSK1c.2148T>C (p.Thr716=)
c.1233T>C (p.Thr411=)
c.2196T>C (p.Thr732=)
c.1878T>C (p.Thr626=)
c.1905T>C (p.Thr635=)
n.2131T>C
c.1620T>C (p.Thr540=)
c.1923T>C (p.Thr641=)
n.2429T>C
19g.55308697T>GCA508995522BRSK1c.2148T>G (p.Thr716=)
c.1233T>G (p.Thr411=)
c.2196T>G (p.Thr732=)
c.1878T>G (p.Thr626=)
c.1905T>G (p.Thr635=)
n.2131T>G
c.1620T>G (p.Thr540=)
c.1923T>G (p.Thr641=)
n.2429T>G
19g.55308698C>ACA407462041BRSK1c.2149C>A (p.His717Asn)
c.1234C>A (p.His412Asn)
c.2197C>A (p.His733Asn)
c.1879C>A (p.His627Asn)
c.1906C>A (p.His636Asn)
n.2132C>A
c.1621C>A (p.His541Asn)
c.1924C>A (p.His642Asn)
n.2430C>A
19g.55308698C=CA2343355862BRSK1c.2149C= (p.His717=)
c.1234C= (p.His412=)
c.2197C= (p.His733=)
c.1879C= (p.His627=)
c.1906C= (p.His636=)
n.2132C=
c.1621C= (p.His541=)
c.1924C= (p.His642=)
n.2430C=
19g.55308698C>GCA407462043BRSK1c.2149C>G (p.His717Asp)
c.1234C>G (p.His412Asp)
c.2197C>G (p.His733Asp)
c.1879C>G (p.His627Asp)
c.1906C>G (p.His636Asp)
n.2132C>G
c.1621C>G (p.His541Asp)
c.1924C>G (p.His642Asp)
n.2430C>G
19g.55308698C>TCA407462045BRSK1c.2149C>T (p.His717Tyr)
c.1234C>T (p.His412Tyr)
c.2197C>T (p.His733Tyr)
c.1879C>T (p.His627Tyr)
c.1906C>T (p.His636Tyr)
n.2132C>T
c.1621C>T (p.His541Tyr)
c.1924C>T (p.His642Tyr)
n.2430C>T
 dbSNP COSMIC
19g.55308699A=CA2343355863BRSK1c.2150A= (p.His717=)
c.1235A= (p.His412=)
c.2198A= (p.His733=)
c.1880A= (p.His627=)
c.1907A= (p.His636=)
n.2133A=
c.1622A= (p.His541=)
c.1925A= (p.His642=)
n.2431A=
19g.55308699A>CCA407462049BRSK1c.2150A>C (p.His717Pro)
c.1235A>C (p.His412Pro)
c.2198A>C (p.His733Pro)
c.1880A>C (p.His627Pro)
c.1907A>C (p.His636Pro)
n.2133A>C
c.1622A>C (p.His541Pro)
c.1925A>C (p.His642Pro)
n.2431A>C
19g.55308699A>GCA407462051BRSK1c.2150A>G (p.His717Arg)
c.1235A>G (p.His412Arg)
c.2198A>G (p.His733Arg)
c.1880A>G (p.His627Arg)
c.1907A>G (p.His636Arg)
n.2133A>G
c.1622A>G (p.His541Arg)
c.1925A>G (p.His642Arg)
n.2431A>G
19g.55308699A>TCA407462053BRSK1c.2150A>T (p.His717Leu)
c.1235A>T (p.His412Leu)
c.2198A>T (p.His733Leu)
c.1880A>T (p.His627Leu)
c.1907A>T (p.His636Leu)
n.2133A>T
c.1622A>T (p.His541Leu)
c.1925A>T (p.His642Leu)
n.2431A>T
 dbSNP gnomAD v2 gnomAD v4
19g.55308700_55308702delCA2576894936BRSK1c.2151_2153del (p.Asp718del)
c.1236_1238del (p.Asp413del)
c.2199_2201del (p.Asp734del)
c.1881_1883del (p.Asp628del)
c.1908_1910del (p.Asp637del)
n.2134_2136del
c.1623_1625del (p.Asp542del)
c.1926_1928del (p.Asp643del)
n.2432_2434del
19g.55308700T>ACA407462055BRSK1c.2151T>A (p.His717Gln)
c.1236T>A (p.His412Gln)
c.2199T>A (p.His733Gln)
c.1881T>A (p.His627Gln)
c.1908T>A (p.His636Gln)
n.2134T>A
c.1623T>A (p.His541Gln)
c.1926T>A (p.His642Gln)
n.2432T>A
19g.55308700T>CCA508995526BRSK1c.2151T>C (p.His717=)
c.1236T>C (p.His412=)
c.2199T>C (p.His733=)
c.1881T>C (p.His627=)
c.1908T>C (p.His636=)
n.2134T>C
c.1623T>C (p.His541=)
c.1926T>C (p.His642=)
n.2432T>C
 gnomAD v4
19g.55308700T>GCA407462056BRSK1c.2151T>G (p.His717Gln)
c.1236T>G (p.His412Gln)
c.2199T>G (p.His733Gln)
c.1881T>G (p.His627Gln)
c.1908T>G (p.His636Gln)
n.2134T>G
c.1623T>G (p.His541Gln)
c.1926T>G (p.His642Gln)
n.2432T>G
19g.55308701G>ACA407462057BRSK1c.2152G>A (p.Asp718Asn)
c.1237G>A (p.Asp413Asn)
c.2200G>A (p.Asp734Asn)
c.1882G>A (p.Asp628Asn)
c.1909G>A (p.Asp637Asn)
n.2135G>A
c.1624G>A (p.Asp542Asn)
c.1927G>A (p.Asp643Asn)
n.2433G>A
19g.55308701G>CCA407462058BRSK1c.2152G>C (p.Asp718His)
c.1237G>C (p.Asp413His)
c.2200G>C (p.Asp734His)
c.1882G>C (p.Asp628His)
c.1909G>C (p.Asp637His)
n.2135G>C
c.1624G>C (p.Asp542His)
c.1927G>C (p.Asp643His)
n.2433G>C
19g.55308701G>TCA407462060BRSK1c.2152G>T (p.Asp718Tyr)
c.1237G>T (p.Asp413Tyr)
c.2200G>T (p.Asp734Tyr)
c.1882G>T (p.Asp628Tyr)
c.1909G>T (p.Asp637Tyr)
n.2135G>T
c.1624G>T (p.Asp542Tyr)
c.1927G>T (p.Asp643Tyr)
n.2433G>T
19g.55308702A>CCA407462062BRSK1c.2153A>C (p.Asp718Ala)
c.1238A>C (p.Asp413Ala)
c.2201A>C (p.Asp734Ala)
c.1883A>C (p.Asp628Ala)
c.1910A>C (p.Asp637Ala)
n.2136A>C
c.1625A>C (p.Asp542Ala)
c.1928A>C (p.Asp643Ala)
n.2434A>C
19g.55308702A>GCA407462064BRSK1c.2153A>G (p.Asp718Gly)
c.1238A>G (p.Asp413Gly)
c.2201A>G (p.Asp734Gly)
c.1883A>G (p.Asp628Gly)
c.1910A>G (p.Asp637Gly)
n.2136A>G
c.1625A>G (p.Asp542Gly)
c.1928A>G (p.Asp643Gly)
n.2434A>G
19g.55308702A>TCA407462067BRSK1c.2153A>T (p.Asp718Val)
c.1238A>T (p.Asp413Val)
c.2201A>T (p.Asp734Val)
c.1883A>T (p.Asp628Val)
c.1910A>T (p.Asp637Val)
n.2136A>T
c.1625A>T (p.Asp542Val)
c.1928A>T (p.Asp643Val)
n.2434A>T
19g.55308703C>ACA407462070BRSK1c.2154C>A (p.Asp718Glu)
c.1239C>A (p.Asp413Glu)
c.2202C>A (p.Asp734Glu)
c.1884C>A (p.Asp628Glu)
c.1911C>A (p.Asp637Glu)
n.2137C>A
c.1626C>A (p.Asp542Glu)
c.1929C>A (p.Asp643Glu)
n.2435C>A
19g.55308703C>GCA407462072BRSK1c.2154C>G (p.Asp718Glu)
c.1239C>G (p.Asp413Glu)
c.2202C>G (p.Asp734Glu)
c.1884C>G (p.Asp628Glu)
c.1911C>G (p.Asp637Glu)
n.2137C>G
c.1626C>G (p.Asp542Glu)
c.1929C>G (p.Asp643Glu)
n.2435C>G
19g.55308703C>TCA508995528BRSK1c.2154C>T (p.Asp718=)
c.1239C>T (p.Asp413=)
c.2202C>T (p.Asp734=)
c.1884C>T (p.Asp628=)
c.1911C>T (p.Asp637=)
n.2137C>T
c.1626C>T (p.Asp542=)
c.1929C>T (p.Asp643=)
n.2435C>T
19g.55308704delCA2576894937BRSK1c.2155del (p.Gln719SerfsTer?)
c.1240del (p.Gln414SerfsTer?)
c.2203del (p.Gln735SerfsTer?)
c.1885del (p.Gln629SerfsTer?)
c.1912del (p.Gln638SerfsTer?)
n.2138del
c.1627del (p.Gln543SerfsTer?)
c.1930del (p.Gln644SerfsTer?)
n.2436del
19g.55308704C>ACA407462075BRSK1c.2155C>A (p.Gln719Lys)
c.1240C>A (p.Gln414Lys)
c.2203C>A (p.Gln735Lys)
c.1885C>A (p.Gln629Lys)
c.1912C>A (p.Gln638Lys)
n.2138C>A
c.1627C>A (p.Gln543Lys)
c.1930C>A (p.Gln644Lys)
n.2436C>A
19g.55308704C>GCA407462077BRSK1c.2155C>G (p.Gln719Glu)
c.1240C>G (p.Gln414Glu)
c.2203C>G (p.Gln735Glu)
c.1885C>G (p.Gln629Glu)
c.1912C>G (p.Gln638Glu)
n.2138C>G
c.1627C>G (p.Gln543Glu)
c.1930C>G (p.Gln644Glu)
n.2436C>G
19g.55308704C>TCA407462078BRSK1c.2155C>T (p.Gln719Ter)
c.1240C>T (p.Gln414Ter)
c.2203C>T (p.Gln735Ter)
c.1885C>T (p.Gln629Ter)
c.1912C>T (p.Gln638Ter)
n.2138C>T
c.1627C>T (p.Gln543Ter)
c.1930C>T (p.Gln644Ter)
n.2436C>T
19g.55308705A>CCA407462079BRSK1c.2156A>C (p.Gln719Pro)
c.1241A>C (p.Gln414Pro)
c.2204A>C (p.Gln735Pro)
c.1886A>C (p.Gln629Pro)
c.1913A>C (p.Gln638Pro)
n.2139A>C
c.1628A>C (p.Gln543Pro)
c.1931A>C (p.Gln644Pro)
n.2437A>C
19g.55308705A>GCA407462080BRSK1c.2156A>G (p.Gln719Arg)
c.1241A>G (p.Gln414Arg)
c.2204A>G (p.Gln735Arg)
c.1886A>G (p.Gln629Arg)
c.1913A>G (p.Gln638Arg)
n.2139A>G
c.1628A>G (p.Gln543Arg)
c.1931A>G (p.Gln644Arg)
n.2437A>G
 ClinVar
19g.55308705A>TCA407462081BRSK1c.2156A>T (p.Gln719Leu)
c.1241A>T (p.Gln414Leu)
c.2204A>T (p.Gln735Leu)
c.1886A>T (p.Gln629Leu)
c.1913A>T (p.Gln638Leu)
n.2139A>T
c.1628A>T (p.Gln543Leu)
c.1931A>T (p.Gln644Leu)
n.2437A>T

Number of alleles fetched