Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55308613G>A | CA2587278087 | BRSK1 | c.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 |
19 | g.55308613G>C | CA2735892458 | BRSK1 | c.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 |
19 | g.55308613G= | CA2343355825 | BRSK1 | c.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= | |
19 | g.55308613G>T | CA310135147 | BRSK1 | c.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 |
19 | g.55308618del | CA2587278089 | BRSK1 | c.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 |
19 | g.55308617T>G | CA310135152 | BRSK1 | c.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 |
19 | g.55308617T= | CA2343355826 | BRSK1 | c.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= | |
19 | g.55308618T>C | CA633862512 | BRSK1 | c.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 |
19 | g.55308618T= | CA2343355827 | BRSK1 | c.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= | |
19 | g.55308619C>A | CA2587278092 | BRSK1 | c.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 |
19 | g.55308619C= | CA2343355828 | BRSK1 | c.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= | |
19 | g.55308619C>G | CA9672675 | BRSK1 | c.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 |
19 | g.55308622C>A | CA2576894929 | BRSK1 | c.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 | |
19 | g.55308622C= | CA2343355829 | BRSK1 | c.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= | |
19 | g.55308622C>T | CA9672676 | BRSK1 | c.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 |
19 | g.55308623C= | CA2343355830 | BRSK1 | c.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= | |
19 | g.55308623C>T | CA9672677 | BRSK1 | c.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 |
19 | g.55308624C>A | CA2576894930 | BRSK1 | c.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 | |
19 | g.55308624C= | CA2343355831 | BRSK1 | c.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= | |
19 | g.55308624C>G | CA2576894931 | BRSK1 | c.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 |
19 | g.55308624C>T | CA9672678 | BRSK1 | c.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 |
19 | g.55308625G>A | CA9672679 | BRSK1 | c.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 |
19 | g.55308625G= | CA2343355832 | BRSK1 | c.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= | |
19 | g.55308627C>T | CA2587278096 | BRSK1 | c.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 |
19 | g.55308629G>A | CA883744420 | BRSK1 | c.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 |
19 | g.55308629G= | CA2343355833 | BRSK1 | c.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= | |
19 | g.55308631G>A | CA9672680 | BRSK1 | c.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 |
19 | g.55308631G= | CA2343355834 | BRSK1 | c.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= | |
19 | g.55308633C>T | CA2587278099 | BRSK1 | c.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 |
19 | g.55308634T>C | CA2587278100 | BRSK1 | c.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 |
19 | g.55308635C= | CA2343355835 | BRSK1 | c.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= | |
19 | g.55308635C>T | CA2343355836 | BRSK1 | c.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 |
19 | g.55308636T>C | CA2587278102 | BRSK1 | c.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 |
19 | g.55308636T= | CA2343355837 | BRSK1 | c.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= | |
19 | g.55308637A>C | CA407461717 | BRSK1 | c.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 | |
19 | g.55308637A>G | CA407461720 | BRSK1 | c.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 | |
19 | g.55308637A>T | CA407461723 | BRSK1 | c.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 | |
19 | g.55308637dup | CA9672681 | BRSK1 | c.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 |
19 | g.55308638G>A | CA407461731 | BRSK1 | c.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 | |
19 | g.55308638G>C | CA407461733 | BRSK1 | c.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 |
19 | g.55308638G= | CA2343355838 | BRSK1 | c.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= | |
19 | g.55308638G>T | CA407461726 | BRSK1 | c.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 | |
19 | g.55308639G>A | CA407461736 | BRSK1 | c.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 | |
19 | g.55308639G>C | CA407461740 | BRSK1 | c.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 | |
19 | g.55308639G>T | CA407461742 | BRSK1 | c.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 | |
19 | g.55308640T>A | CA508995438 | BRSK1 | c.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 | |
19 | g.55308640T>C | CA508995439 | BRSK1 | c.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 | |
19 | g.55308640T>G | CA508995440 | BRSK1 | c.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 | |
19 | g.55308641C>A | CA407461747 | BRSK1 | c.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 | |
19 | g.55308641C= | CA2343355839 | BRSK1 | c.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= | |
19 | g.55308641C>G | CA407461750 | BRSK1 | c.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 | |
19 | g.55308641C>T | CA407461752 | BRSK1 | c.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 |
19 | g.55308643del | CA2576894934 | BRSK1 | c.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 | |
19 | g.55308642C>A | CA407461755 | BRSK1 | c.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 | |
19 | g.55308642C= | CA2343355840 | BRSK1 | c.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= | |
19 | g.55308642C>G | CA407461759 | BRSK1 | c.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 | |
19 | g.55308642C>T | CA9672682 | BRSK1 | c.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 |
19 | g.55308643C>A | CA508995442 | BRSK1 | c.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 | |
19 | g.55308643C>G | CA508995443 | BRSK1 | c.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 | |
19 | g.55308643C>T | CA508995444 | BRSK1 | c.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 | |
19 | g.55308644A>C | CA407461767 | BRSK1 | c.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 | |
19 | g.55308644A>G | CA407461769 | BRSK1 | c.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 | |
19 | g.55308644A>T | CA407461771 | BRSK1 | c.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 | |
19 | g.55308645G>A | CA407461776 | BRSK1 | c.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 |
19 | g.55308645G>C | CA407461779 | BRSK1 | c.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 | |
19 | g.55308645G>T | CA407461775 | BRSK1 | c.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 | |
19 | g.55308646C>A | CA407461781 | BRSK1 | c.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 | |
19 | g.55308646C>G | CA407461784 | BRSK1 | c.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 | |
19 | g.55308646C>T | CA508995448 | BRSK1 | c.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 | |
19 | g.55308647C>A | CA407461789 | BRSK1 | c.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 |
19 | g.55308647C= | CA2343355841 | BRSK1 | c.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= | |
19 | g.55308647C>G | CA407461790 | BRSK1 | c.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 | |
19 | g.55308647C>T | CA407461791 | BRSK1 | c.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 |
19 | g.55308648G>A | CA9672683 | BRSK1 | c.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 |
19 | g.55308648G>C | CA407461793 | BRSK1 | c.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 |
19 | g.55308648G= | CA2343355842 | BRSK1 | c.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= | |
19 | g.55308648G>T | CA407461794 | BRSK1 | c.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 | |
19 | g.55308649T>A | CA508995455 | BRSK1 | c.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 | |
19 | g.55308649T>C | CA508995454 | BRSK1 | c.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 | |
19 | g.55308649T>G | CA508995452 | BRSK1 | c.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 | |
19 | g.55308650C>A | CA508995456 | BRSK1 | c.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 |
19 | g.55308650C= | CA2343355843 | BRSK1 | c.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= | |
19 | g.55308650C>G | CA407461795 | BRSK1 | c.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 | |
19 | g.55308650C>T | CA9672684 | BRSK1 | c.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 |
19 | g.55308651G>A | CA407461797 | BRSK1 | c.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 |
19 | g.55308651G>C | CA407461799 | BRSK1 | c.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 |
19 | g.55308651G= | CA2343355844 | BRSK1 | c.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= | |
19 | g.55308651G>T | CA407461801 | BRSK1 | c.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 |
19 | g.55308652G>A | CA508995457 | BRSK1 | c.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 | |
19 | g.55308652G>C | CA508995458 | BRSK1 | c.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 | |
19 | g.55308652G>T | CA508995459 | BRSK1 | c.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 | |
19 | g.55308653T>A | CA407461806 | BRSK1 | c.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 | |
19 | g.55308653T>C | CA407461804 | BRSK1 | c.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 | |
19 | g.55308653T>G | CA407461802 | BRSK1 | c.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 | |
19 | g.55308654T>A | CA407461811 | BRSK1 | c.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 | |
19 | g.55308654T>C | CA407461813 | BRSK1 | c.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 | |
19 | g.55308654T>G | CA407461814 | BRSK1 | c.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 | |
19 | g.55308655C>A | CA407461817 | BRSK1 | c.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 | |
19 | g.55308655C>G | CA407461820 | BRSK1 | c.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 | |
19 | g.55308655C>T | CA508995461 | BRSK1 | c.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 | |
19 | g.55308656A>C | CA407461823 | BRSK1 | c.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 | |
19 | g.55308656A>G | CA407461826 | BRSK1 | c.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 | |
19 | g.55308656A>T | CA407461828 | BRSK1 | c.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 | |
19 | g.55308657A= | CA2343355845 | BRSK1 | c.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= | |
19 | g.55308657A>C | CA407461830 | BRSK1 | c.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 | |
19 | g.55308657A>G | CA9672685 | BRSK1 | c.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 |
19 | g.55308657A>T | CA407461832 | BRSK1 | c.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 | |
19 | g.55308658G>A | CA508995463 | BRSK1 | c.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 |
19 | g.55308658G>C | CA407461834 | BRSK1 | c.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 | |
19 | g.55308658G= | CA2343355846 | BRSK1 | c.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= | |
19 | g.55308658G>T | CA407461836 | BRSK1 | c.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 | |
19 | g.55308659C>A | CA508995466 | BRSK1 | c.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 |
19 | g.55308659C= | CA2343355847 | BRSK1 | c.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= | |
19 | g.55308659C>G | CA407461839 | BRSK1 | c.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 | |
19 | g.55308659C>T | CA407461842 | BRSK1 | c.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 | |
19 | g.55308660G>A | CA407461845 | BRSK1 | c.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 |
19 | g.55308660G>C | CA407461848 | BRSK1 | c.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 |
19 | g.55308660G= | CA2343355848 | BRSK1 | c.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= | |
19 | g.55308660G>T | CA407461846 | BRSK1 | c.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 | |
19 | g.55308661A>C | CA508995467 | BRSK1 | c.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 | |
19 | g.55308661A>G | CA508995468 | BRSK1 | c.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 | |
19 | g.55308661A>T | CA508995469 | BRSK1 | c.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 | |
19 | g.55308662G>A | CA9672686 | BRSK1 | c.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 |
19 | g.55308662G>C | CA407461852 | BRSK1 | c.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 | |
19 | g.55308662G= | CA2343355849 | BRSK1 | c.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= | |
19 | g.55308662G>T | CA407461859 | BRSK1 | c.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 |
19 | g.55308663T>A | CA407461861 | BRSK1 | c.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 | |
19 | g.55308663T>C | CA407461862 | BRSK1 | c.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 | |
19 | g.55308663T>G | CA407461864 | BRSK1 | c.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 | |
19 | g.55308664G>A | CA508995473 | BRSK1 | c.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 |
19 | g.55308664G>C | CA508995474 | BRSK1 | c.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 | |
19 | g.55308664G= | CA2343355850 | BRSK1 | c.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= | |
19 | g.55308664G>T | CA508995475 | BRSK1 | c.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 | |
19 | g.55308665G>A | CA407461866 | BRSK1 | c.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 |
19 | g.55308665G>C | CA407461869 | BRSK1 | c.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 | |
19 | g.55308665G>T | CA407461870 | BRSK1 | c.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 |
19 | g.55308666T>A | CA407461872 | BRSK1 | c.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 | |
19 | g.55308666T>C | CA407461874 | BRSK1 | c.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 | |
19 | g.55308666T>G | CA407461875 | BRSK1 | c.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 | |
19 | g.55308667G>A | CA508995476 | BRSK1 | c.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 |
19 | g.55308667G>C | CA508995479 | BRSK1 | c.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 | |
19 | g.55308667G>T | CA508995480 | BRSK1 | c.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 | |
19 | g.55308668G>A | CA407461877 | BRSK1 | c.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 |
19 | g.55308668G>C | CA407461881 | BRSK1 | c.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 | |
19 | g.55308668G>T | CA407461878 | BRSK1 | c.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 | |
19 | g.55308669A= | CA2343355851 | BRSK1 | c.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= | |
19 | g.55308669A>C | CA407461883 | BRSK1 | c.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 | |
19 | g.55308669A>G | CA407461886 | BRSK1 | c.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 |
19 | g.55308669A>T | CA407461889 | BRSK1 | c.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 |
19 | g.55308670G>A | CA508995485 | BRSK1 | c.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 | |
19 | g.55308670G>C | CA407461892 | BRSK1 | c.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 | |
19 | g.55308670G>T | CA407461894 | BRSK1 | c.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 | |
19 | g.55308671A>C | CA407461895 | BRSK1 | c.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 | |
19 | g.55308671A>G | CA407461897 | BRSK1 | c.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 | |
19 | g.55308671A>T | CA407461899 | BRSK1 | c.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 | |
19 | g.55308672C>A | CA407461902 | BRSK1 | c.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 | |
19 | g.55308672C>G | CA407461904 | BRSK1 | c.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 | |
19 | g.55308672C>T | CA407461907 | BRSK1 | c.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 | |
19 | g.55308673C>A | CA9672687 | BRSK1 | c.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 |
19 | g.55308673C= | CA2343355852 | BRSK1 | c.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= | |
19 | g.55308673C>G | CA508995490 | BRSK1 | c.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 |
19 | g.55308673C>T | CA508995488 | BRSK1 | c.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 |
19 | g.55308674A>C | CA407461916 | BRSK1 | c.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 | |
19 | g.55308674A>G | CA407461912 | BRSK1 | c.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 | |
19 | g.55308674A>T | CA407461914 | BRSK1 | c.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 | |
19 | g.55308675T>A | CA407461919 | BRSK1 | c.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 | |
19 | g.55308675T>C | CA407461922 | BRSK1 | c.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 | |
19 | g.55308675T>G | CA407461924 | BRSK1 | c.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 | |
19 | g.55308676C>A | CA508995493 | BRSK1 | c.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 | |
19 | g.55308676C>G | CA407461927 | BRSK1 | c.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 | |
19 | g.55308676C>T | CA508995494 | BRSK1 | c.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 |
19 | g.55308677C>A | CA407461930 | BRSK1 | c.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 | |
19 | g.55308677C= | CA2343355853 | BRSK1 | c.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= | |
19 | g.55308677C>G | CA407461933 | BRSK1 | c.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 | |
19 | g.55308677C>T | CA9672688 | BRSK1 | c.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 |
19 | g.55308678A= | CA2343355854 | BRSK1 | c.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= | |
19 | g.55308678A>C | CA407461937 | BRSK1 | c.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 | |
19 | g.55308678A>G | CA407461938 | BRSK1 | c.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 | |
19 | g.55308678A>T | CA407461939 | BRSK1 | c.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 |
19 | g.55308679G>A | CA508995496 | BRSK1 | c.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 | |
19 | g.55308679G>C | CA407461943 | BRSK1 | c.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 | |
19 | g.55308679G>T | CA407461946 | BRSK1 | c.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 | |
19 | g.55308680G>A | CA407461952 | BRSK1 | c.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 |
19 | g.55308680G>C | CA407461955 | BRSK1 | c.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 | |
19 | g.55308680G>T | CA407461950 | BRSK1 | c.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 | |
19 | g.55308681C>A | CA407461961 | BRSK1 | c.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 | |
19 | g.55308681C>G | CA407461958 | BRSK1 | c.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 | |
19 | g.55308681C>T | CA407461963 | BRSK1 | c.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 | |
19 | g.55308682A= | CA2343355855 | BRSK1 | c.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= | |
19 | g.55308682A>C | CA508995500 | BRSK1 | c.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 | |
19 | g.55308682A>G | CA310135234 | BRSK1 | c.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 |
19 | g.55308682A>T | CA508995501 | BRSK1 | c.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 | |
19 | g.55308683C>A | CA407461967 | BRSK1 | c.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 | |
19 | g.55308683C>G | CA407461968 | BRSK1 | c.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 | |
19 | g.55308683C>T | CA407461970 | BRSK1 | c.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 | |
19 | g.55308684A>C | CA407461972 | BRSK1 | c.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 | |
19 | g.55308684A>G | CA407461973 | BRSK1 | c.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 | |
19 | g.55308684A>T | CA407461974 | BRSK1 | c.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 | |
19 | g.55308685G>A | CA508995505 | BRSK1 | c.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 | |
19 | g.55308685G>C | CA407461975 | BRSK1 | c.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 |
19 | g.55308685G>T | CA407461976 | BRSK1 | c.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 | |
19 | g.55308686C>A | CA9672689 | BRSK1 | c.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 |
19 | g.55308686C= | CA2343355856 | BRSK1 | c.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= | |
19 | g.55308686C>G | CA407461979 | BRSK1 | c.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 | |
19 | g.55308686C>T | CA407461981 | BRSK1 | c.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 | |
19 | g.55308687T>A | CA407461983 | BRSK1 | c.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 | |
19 | g.55308687T>C | CA407461985 | BRSK1 | c.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 |
19 | g.55308687T>G | CA407461987 | BRSK1 | c.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 | |
19 | g.55308687T= | CA2343355857 | BRSK1 | c.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= | |
19 | g.55308688C>A | CA508995506 | BRSK1 | c.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 | |
19 | g.55308688C= | CA2343355858 | BRSK1 | c.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= | |
19 | g.55308688C>G | CA508995507 | BRSK1 | c.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 | |
19 | g.55308688C>T | CA508995508 | BRSK1 | c.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 |
19 | g.55308689C>A | CA407461991 | BRSK1 | c.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 | |
19 | g.55308689C= | CA2343355859 | BRSK1 | c.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= | |
19 | g.55308689C>G | CA407461989 | BRSK1 | c.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 | |
19 | g.55308689C>T | CA508995511 | BRSK1 | c.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 |
19 | g.55308690T>A | CA407461995 | BRSK1 | c.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 | |
19 | g.55308690T>C | CA407461996 | BRSK1 | c.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 | |
19 | g.55308690T>G | CA407462000 | BRSK1 | c.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 | |
19 | g.55308691G>A | CA508995513 | BRSK1 | c.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 |
19 | g.55308691G>C | CA508995514 | BRSK1 | c.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 |
19 | g.55308691G>T | CA508995515 | BRSK1 | c.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 | |
19 | g.55308692A>C | CA407462001 | BRSK1 | c.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 | |
19 | g.55308692A>G | CA407462002 | BRSK1 | c.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 | |
19 | g.55308692A>T | CA407462003 | BRSK1 | c.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 | |
19 | g.55308693G>A | CA407462009 | BRSK1 | c.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 | |
19 | g.55308693G>C | CA407462005 | BRSK1 | c.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 | |
19 | g.55308693G>T | CA407462008 | BRSK1 | c.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 | |
19 | g.55308694C>A | CA407462010 | BRSK1 | c.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 | |
19 | g.55308694C= | CA2343355860 | BRSK1 | c.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= | |
19 | g.55308694C>G | CA407462012 | BRSK1 | c.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 | |
19 | g.55308694C>T | CA508995519 | BRSK1 | c.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 |
19 | g.55308695A= | CA2343355861 | BRSK1 | c.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= | |
19 | g.55308695A>C | CA407462016 | BRSK1 | c.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 |
19 | g.55308695A>G | CA407462030 | BRSK1 | c.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 |
19 | g.55308695A>T | CA407462032 | BRSK1 | c.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 | |
19 | g.55308696C>A | CA407462035 | BRSK1 | c.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 | |
19 | g.55308696C>G | CA407462039 | BRSK1 | c.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 | |
19 | g.55308696C>T | CA407462036 | BRSK1 | c.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 |
19 | g.55308697T>A | CA508995520 | BRSK1 | c.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 | |
19 | g.55308697T>C | CA508995521 | BRSK1 | c.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 | |
19 | g.55308697T>G | CA508995522 | BRSK1 | c.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 | |
19 | g.55308698C>A | CA407462041 | BRSK1 | c.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 | |
19 | g.55308698C= | CA2343355862 | BRSK1 | c.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= | |
19 | g.55308698C>G | CA407462043 | BRSK1 | c.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 | |
19 | g.55308698C>T | CA407462045 | BRSK1 | c.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 |
19 | g.55308699A= | CA2343355863 | BRSK1 | c.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= | |
19 | g.55308699A>C | CA407462049 | BRSK1 | c.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 | |
19 | g.55308699A>G | CA407462051 | BRSK1 | c.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 | |
19 | g.55308699A>T | CA407462053 | BRSK1 | c.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 |
19 | g.55308700_55308702del | CA2576894936 | BRSK1 | c.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 | |
19 | g.55308700T>A | CA407462055 | BRSK1 | c.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 | |
19 | g.55308700T>C | CA508995526 | BRSK1 | c.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 |
19 | g.55308700T>G | CA407462056 | BRSK1 | c.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 | |
19 | g.55308701G>A | CA407462057 | BRSK1 | c.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 | |
19 | g.55308701G>C | CA407462058 | BRSK1 | c.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 | |
19 | g.55308701G>T | CA407462060 | BRSK1 | c.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 | |
19 | g.55308702A>C | CA407462062 | BRSK1 | c.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 | |
19 | g.55308702A>G | CA407462064 | BRSK1 | c.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 | |
19 | g.55308702A>T | CA407462067 | BRSK1 | c.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 | |
19 | g.55308703C>A | CA407462070 | BRSK1 | c.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 | |
19 | g.55308703C>G | CA407462072 | BRSK1 | c.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 | |
19 | g.55308703C>T | CA508995528 | BRSK1 | c.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 | |
19 | g.55308704del | CA2576894937 | BRSK1 | c.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 | |
19 | g.55308704C>A | CA407462075 | BRSK1 | c.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 | |
19 | g.55308704C>G | CA407462077 | BRSK1 | c.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 | |
19 | g.55308704C>T | CA407462078 | BRSK1 | c.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 | |
19 | g.55308705A>C | CA407462079 | BRSK1 | c.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 | |
19 | g.55308705A>G | CA407462080 | BRSK1 | c.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 |
19 | g.55308705A>T | CA407462081 | BRSK1 | c.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 | |
19 | g.55308706G>A | CA508995531 | BRSK1 | c.2157G>A (p.Gln719=) c.1242G>A (p.Gln414=) c.2205G>A (p.Gln735=) c.1887G>A (p.Gln629=) c.1914G>A (p.Gln638=) n.2140G>A c.1629G>A (p.Gln543=) c.1932G>A (p.Gln644=) n.2438G>A | |
19 | g.55308706G>C | CA407462082 | BRSK1 | c.2157G>C (p.Gln719His) c.1242G>C (p.Gln414His) c.2205G>C (p.Gln735His) c.1887G>C (p.Gln629His) c.1914G>C (p.Gln638His) n.2140G>C c.1629G>C (p.Gln543His) c.1932G>C (p.Gln644His) n.2438G>C | |
19 | g.55308706G= | CA2343355864 | BRSK1 | c.2157G= (p.Gln719=) c.1242G= (p.Gln414=) c.2205G= (p.Gln735=) c.1887G= (p.Gln629=) c.1914G= (p.Gln638=) n.2140G= c.1629G= (p.Gln543=) c.1932G= (p.Gln644=) n.2438G= | |
19 | g.55308706G>T | CA407462083 | BRSK1 | c.2157G>T (p.Gln719His) c.1242G>T (p.Gln414His) c.2205G>T (p.Gln735His) c.1887G>T (p.Gln629His) c.1914G>T (p.Gln638His) n.2140G>T c.1629G>T (p.Gln543His) c.1932G>T (p.Gln644His) n.2438G>T | |
19 | g.55308707C>A | CA407462085 | BRSK1 | c.2158C>A (p.Pro720Thr) c.1243C>A (p.Pro415Thr) c.2206C>A (p.Pro736Thr) c.1888C>A (p.Pro630Thr) c.1915C>A (p.Pro639Thr) n.2141C>A c.1630C>A (p.Pro544Thr) c.1933C>A (p.Pro645Thr) n.2439C>A | |
19 | g.55308707C>G | CA407462089 | BRSK1 | c.2158C>G (p.Pro720Ala) c.1243C>G (p.Pro415Ala) c.2206C>G (p.Pro736Ala) c.1888C>G (p.Pro630Ala) c.1915C>G (p.Pro639Ala) n.2141C>G c.1630C>G (p.Pro544Ala) c.1933C>G (p.Pro645Ala) n.2439C>G | |
19 | g.55308707C>T | CA407462094 | BRSK1 | c.2158C>T (p.Pro720Ser) c.1243C>T (p.Pro415Ser) c.2206C>T (p.Pro736Ser) c.1888C>T (p.Pro630Ser) c.1915C>T (p.Pro639Ser) n.2141C>T c.1630C>T (p.Pro544Ser) c.1933C>T (p.Pro645Ser) n.2439C>T | |
19 | g.55308709dup | CA633862525 | BRSK1 | c.2160dup (p.Ser721LeufsTer?) c.1245dup (p.Ser416LeufsTer?) c.2208dup (p.Ser737LeufsTer?) c.1890dup (p.Ser631LeufsTer?) c.1917dup (p.Ser640LeufsTer?) n.2143dup c.1632dup (p.Ser545LeufsTer?) c.1935dup (p.Ser646LeufsTer?) n.2441dup | dbSNP gnomAD v2 gnomAD v4 |
19 | g.55308708C>A | CA407462098 | BRSK1 | c.2159C>A (p.Pro720His) c.1244C>A (p.Pro415His) c.2207C>A (p.Pro736His) c.1889C>A (p.Pro630His) c.1916C>A (p.Pro639His) n.2142C>A c.1631C>A (p.Pro544His) c.1934C>A (p.Pro645His) n.2440C>A | |
19 | g.55308708C>G | CA407462101 | BRSK1 | c.2159C>G (p.Pro720Arg) c.1244C>G (p.Pro415Arg) c.2207C>G (p.Pro736Arg) c.1889C>G (p.Pro630Arg) c.1916C>G (p.Pro639Arg) n.2142C>G c.1631C>G (p.Pro544Arg) c.1934C>G (p.Pro645Arg) n.2440C>G | |
19 | g.55308708C>T | CA407462099 | BRSK1 | c.2159C>T (p.Pro720Leu) c.1244C>T (p.Pro415Leu) c.2207C>T (p.Pro736Leu) c.1889C>T (p.Pro630Leu) c.1916C>T (p.Pro639Leu) n.2142C>T c.1631C>T (p.Pro544Leu) c.1934C>T (p.Pro645Leu) n.2440C>T | gnomAD v4 |
19 | g.55308709C>A | CA508995536 | BRSK1 | c.2160C>A (p.Pro720=) c.1245C>A (p.Pro415=) c.2208C>A (p.Pro736=) c.1890C>A (p.Pro630=) c.1917C>A (p.Pro639=) n.2143C>A c.1632C>A (p.Pro544=) c.1935C>A (p.Pro645=) n.2441C>A | |
19 | g.55308709C>G | CA508995534 | BRSK1 | c.2160C>G (p.Pro720=) c.1245C>G (p.Pro415=) c.2208C>G (p.Pro736=) c.1890C>G (p.Pro630=) c.1917C>G (p.Pro639=) n.2143C>G c.1632C>G (p.Pro544=) c.1935C>G (p.Pro645=) n.2441C>G | |
19 | g.55308709C>T | CA508995533 | BRSK1 | c.2160C>T (p.Pro720=) c.1245C>T (p.Pro415=) c.2208C>T (p.Pro736=) c.1890C>T (p.Pro630=) c.1917C>T (p.Pro639=) n.2143C>T c.1632C>T (p.Pro544=) c.1935C>T (p.Pro645=) n.2441C>T | |
19 | g.55308710T>A | CA407462105 | BRSK1 | c.2161T>A (p.Ser721Thr) c.1246T>A (p.Ser416Thr) c.2209T>A (p.Ser737Thr) c.1891T>A (p.Ser631Thr) c.1918T>A (p.Ser640Thr) n.2144T>A c.1633T>A (p.Ser545Thr) c.1936T>A (p.Ser646Thr) n.2442T>A | gnomAD v4 |
19 | g.55308710T>C | CA407462114 | BRSK1 | c.2161T>C (p.Ser721Pro) c.1246T>C (p.Ser416Pro) c.2209T>C (p.Ser737Pro) c.1891T>C (p.Ser631Pro) c.1918T>C (p.Ser640Pro) n.2144T>C c.1633T>C (p.Ser545Pro) c.1936T>C (p.Ser646Pro) n.2442T>C | |
19 | g.55308710T>G | CA407462116 | BRSK1 | c.2161T>G (p.Ser721Ala) c.1246T>G (p.Ser416Ala) c.2209T>G (p.Ser737Ala) c.1891T>G (p.Ser631Ala) c.1918T>G (p.Ser640Ala) n.2144T>G c.1633T>G (p.Ser545Ala) c.1936T>G (p.Ser646Ala) n.2442T>G |