Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55308272A= | CA2343355648 | BRSK1 | c.2090-367A= (n.2090-367A=) c.1175-367A= (n.1175-367A=) c.2138-367A= (n.2138-367A=) c.1820-367A= (n.1820-367A=) c.1847-367A= (n.1847-367A=) n.2073-367A= c.1562-367A= (n.1562-367A=) c.1865-367A= (n.1865-367A=) n.2371-367A= | |
19 | g.55308272A>C | CA2343355649 | BRSK1 | c.2090-367A>C (n.2090-367A>C) c.1175-367A>C (n.1175-367A>C) c.2138-367A>C (n.2138-367A>C) c.1820-367A>C (n.1820-367A>C) c.1847-367A>C (n.1847-367A>C) n.2073-367A>C c.1562-367A>C (n.1562-367A>C) c.1865-367A>C (n.1865-367A>C) n.2371-367A>C | dbSNP |
19 | g.55308274A= | CA2343355650 | BRSK1 | c.2090-365A= (n.2090-365A=) c.1175-365A= (n.1175-365A=) c.2138-365A= (n.2138-365A=) c.1820-365A= (n.1820-365A=) c.1847-365A= (n.1847-365A=) n.2073-365A= c.1562-365A= (n.1562-365A=) c.1865-365A= (n.1865-365A=) n.2371-365A= | |
19 | g.55308274A>G | CA310134783 | BRSK1 | c.2090-365A>G (n.2090-365A>G) c.1175-365A>G (n.1175-365A>G) c.2138-365A>G (n.2138-365A>G) c.1820-365A>G (n.1820-365A>G) c.1847-365A>G (n.1847-365A>G) n.2073-365A>G c.1562-365A>G (n.1562-365A>G) c.1865-365A>G (n.1865-365A>G) n.2371-365A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308276C= | CA2343355651 | BRSK1 | c.2090-363C= (n.2090-363C=) c.1175-363C= (n.1175-363C=) c.2138-363C= (n.2138-363C=) c.1820-363C= (n.1820-363C=) c.1847-363C= (n.1847-363C=) n.2073-363C= c.1562-363C= (n.1562-363C=) c.1865-363C= (n.1865-363C=) n.2371-363C= | |
19 | g.55308276C>T | CA310134785 | BRSK1 | c.2090-363C>T (n.2090-363C>T) c.1175-363C>T (n.1175-363C>T) c.2138-363C>T (n.2138-363C>T) c.1820-363C>T (n.1820-363C>T) c.1847-363C>T (n.1847-363C>T) n.2073-363C>T c.1562-363C>T (n.1562-363C>T) c.1865-363C>T (n.1865-363C>T) n.2371-363C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308277G>A | CA2528328559 | BRSK1 | c.2090-362G>A (n.2090-362G>A) c.1175-362G>A (n.1175-362G>A) c.2138-362G>A (n.2138-362G>A) c.1820-362G>A (n.1820-362G>A) c.1847-362G>A (n.1847-362G>A) n.2073-362G>A c.1562-362G>A (n.1562-362G>A) c.1865-362G>A (n.1865-362G>A) n.2371-362G>A | |
19 | g.55308278G>A | CA2343355653 | BRSK1 | c.2090-361G>A (n.2090-361G>A) c.1175-361G>A (n.1175-361G>A) c.2138-361G>A (n.2138-361G>A) c.1820-361G>A (n.1820-361G>A) c.1847-361G>A (n.1847-361G>A) n.2073-361G>A c.1562-361G>A (n.1562-361G>A) c.1865-361G>A (n.1865-361G>A) n.2371-361G>A | dbSNP |
19 | g.55308278G= | CA2343355652 | BRSK1 | c.2090-361G= (n.2090-361G=) c.1175-361G= (n.1175-361G=) c.2138-361G= (n.2138-361G=) c.1820-361G= (n.1820-361G=) c.1847-361G= (n.1847-361G=) n.2073-361G= c.1562-361G= (n.1562-361G=) c.1865-361G= (n.1865-361G=) n.2371-361G= | |
19 | g.55308280A= | CA2343355654 | BRSK1 | c.2090-359A= (n.2090-359A=) c.1175-359A= (n.1175-359A=) c.2138-359A= (n.2138-359A=) c.1820-359A= (n.1820-359A=) c.1847-359A= (n.1847-359A=) n.2073-359A= c.1562-359A= (n.1562-359A=) c.1865-359A= (n.1865-359A=) n.2371-359A= | |
19 | g.55308280A>C | CA997262722 | BRSK1 | c.2090-359A>C (n.2090-359A>C) c.1175-359A>C (n.1175-359A>C) c.2138-359A>C (n.2138-359A>C) c.1820-359A>C (n.1820-359A>C) c.1847-359A>C (n.1847-359A>C) n.2073-359A>C c.1562-359A>C (n.1562-359A>C) c.1865-359A>C (n.1865-359A>C) n.2371-359A>C | gnomAD v3 gnomAD v4 |
19 | g.55308280A>G | CA310134788 | BRSK1 | c.2090-359A>G (n.2090-359A>G) c.1175-359A>G (n.1175-359A>G) c.2138-359A>G (n.2138-359A>G) c.1820-359A>G (n.1820-359A>G) c.1847-359A>G (n.1847-359A>G) n.2073-359A>G c.1562-359A>G (n.1562-359A>G) c.1865-359A>G (n.1865-359A>G) n.2371-359A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308282T>C | CA997262723 | BRSK1 | c.2090-357T>C (n.2090-357T>C) c.1175-357T>C (n.1175-357T>C) c.2138-357T>C (n.2138-357T>C) c.1820-357T>C (n.1820-357T>C) c.1847-357T>C (n.1847-357T>C) n.2073-357T>C c.1562-357T>C (n.1562-357T>C) c.1865-357T>C (n.1865-357T>C) n.2371-357T>C | gnomAD v3 gnomAD v4 |
19 | g.55308285A= | CA2343355655 | BRSK1 | c.2090-354A= (n.2090-354A=) c.1175-354A= (n.1175-354A=) c.2138-354A= (n.2138-354A=) c.1820-354A= (n.1820-354A=) c.1847-354A= (n.1847-354A=) n.2073-354A= c.1562-354A= (n.1562-354A=) c.1865-354A= (n.1865-354A=) n.2371-354A= | |
19 | g.55308285A>G | CA997262724 | BRSK1 | c.2090-354A>G (n.2090-354A>G) c.1175-354A>G (n.1175-354A>G) c.2138-354A>G (n.2138-354A>G) c.1820-354A>G (n.1820-354A>G) c.1847-354A>G (n.1847-354A>G) n.2073-354A>G c.1562-354A>G (n.1562-354A>G) c.1865-354A>G (n.1865-354A>G) n.2371-354A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308289T>G | CA310134796 | BRSK1 | c.2090-350T>G (n.2090-350T>G) c.1175-350T>G (n.1175-350T>G) c.2138-350T>G (n.2138-350T>G) c.1820-350T>G (n.1820-350T>G) c.1847-350T>G (n.1847-350T>G) n.2073-350T>G c.1562-350T>G (n.1562-350T>G) c.1865-350T>G (n.1865-350T>G) n.2371-350T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308289T= | CA2343355656 | BRSK1 | c.2090-350T= (n.2090-350T=) c.1175-350T= (n.1175-350T=) c.2138-350T= (n.2138-350T=) c.1820-350T= (n.1820-350T=) c.1847-350T= (n.1847-350T=) n.2073-350T= c.1562-350T= (n.1562-350T=) c.1865-350T= (n.1865-350T=) n.2371-350T= | |
19 | g.55308289_55308290insA | CA2343355657 | BRSK1 | c.2090-350_2090-349insA (n.2090-350_2090-349insA) c.1175-350_1175-349insA (n.1175-350_1175-349insA) c.2138-350_2138-349insA (n.2138-350_2138-349insA) c.1820-350_1820-349insA (n.1820-350_1820-349insA) c.1847-350_1847-349insA (n.1847-350_1847-349insA) n.2073-350_2073-349insA c.1562-350_1562-349insA (n.1562-350_1562-349insA) c.1865-350_1865-349insA (n.1865-350_1865-349insA) n.2371-350_2371-349insA | dbSNP |
19 | g.55308290G>A | CA2343355659 | BRSK1 | c.2090-349G>A (n.2090-349G>A) c.1175-349G>A (n.1175-349G>A) c.2138-349G>A (n.2138-349G>A) c.1820-349G>A (n.1820-349G>A) c.1847-349G>A (n.1847-349G>A) n.2073-349G>A c.1562-349G>A (n.1562-349G>A) c.1865-349G>A (n.1865-349G>A) n.2371-349G>A | dbSNP |
19 | g.55308290G>C | CA633862361 | BRSK1 | c.2090-349G>C (n.2090-349G>C) c.1175-349G>C (n.1175-349G>C) c.2138-349G>C (n.2138-349G>C) c.1820-349G>C (n.1820-349G>C) c.1847-349G>C (n.1847-349G>C) n.2073-349G>C c.1562-349G>C (n.1562-349G>C) c.1865-349G>C (n.1865-349G>C) n.2371-349G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308290G= | CA2343355658 | BRSK1 | c.2090-349G= (n.2090-349G=) c.1175-349G= (n.1175-349G=) c.2138-349G= (n.2138-349G=) c.1820-349G= (n.1820-349G=) c.1847-349G= (n.1847-349G=) n.2073-349G= c.1562-349G= (n.1562-349G=) c.1865-349G= (n.1865-349G=) n.2371-349G= | |
19 | g.55308291T>A | CA310134813 | BRSK1 | c.2090-348T>A (n.2090-348T>A) c.1175-348T>A (n.1175-348T>A) c.2138-348T>A (n.2138-348T>A) c.1820-348T>A (n.1820-348T>A) c.1847-348T>A (n.1847-348T>A) n.2073-348T>A c.1562-348T>A (n.1562-348T>A) c.1865-348T>A (n.1865-348T>A) n.2371-348T>A | dbSNP |
19 | g.55308291T= | CA2343355660 | BRSK1 | c.2090-348T= (n.2090-348T=) c.1175-348T= (n.1175-348T=) c.2138-348T= (n.2138-348T=) c.1820-348T= (n.1820-348T=) c.1847-348T= (n.1847-348T=) n.2073-348T= c.1562-348T= (n.1562-348T=) c.1865-348T= (n.1865-348T=) n.2371-348T= | |
19 | g.55308293G>A | CA2343355662 | BRSK1 | c.2090-346G>A (n.2090-346G>A) c.1175-346G>A (n.1175-346G>A) c.2138-346G>A (n.2138-346G>A) c.1820-346G>A (n.1820-346G>A) c.1847-346G>A (n.1847-346G>A) n.2073-346G>A c.1562-346G>A (n.1562-346G>A) c.1865-346G>A (n.1865-346G>A) n.2371-346G>A | dbSNP |
19 | g.55308293G= | CA2343355661 | BRSK1 | c.2090-346G= (n.2090-346G=) c.1175-346G= (n.1175-346G=) c.2138-346G= (n.2138-346G=) c.1820-346G= (n.1820-346G=) c.1847-346G= (n.1847-346G=) n.2073-346G= c.1562-346G= (n.1562-346G=) c.1865-346G= (n.1865-346G=) n.2371-346G= | |
19 | g.55308294G>A | CA883744253 | BRSK1 | c.2090-345G>A (n.2090-345G>A) c.1175-345G>A (n.1175-345G>A) c.2138-345G>A (n.2138-345G>A) c.1820-345G>A (n.1820-345G>A) c.1847-345G>A (n.1847-345G>A) n.2073-345G>A c.1562-345G>A (n.1562-345G>A) c.1865-345G>A (n.1865-345G>A) n.2371-345G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308294G= | CA2343355663 | BRSK1 | c.2090-345G= (n.2090-345G=) c.1175-345G= (n.1175-345G=) c.2138-345G= (n.2138-345G=) c.1820-345G= (n.1820-345G=) c.1847-345G= (n.1847-345G=) n.2073-345G= c.1562-345G= (n.1562-345G=) c.1865-345G= (n.1865-345G=) n.2371-345G= | |
19 | g.55308295G>A | CA883744259 | BRSK1 | c.2090-344G>A (n.2090-344G>A) c.1175-344G>A (n.1175-344G>A) c.2138-344G>A (n.2138-344G>A) c.1820-344G>A (n.1820-344G>A) c.1847-344G>A (n.1847-344G>A) n.2073-344G>A c.1562-344G>A (n.1562-344G>A) c.1865-344G>A (n.1865-344G>A) n.2371-344G>A | dbSNP |
19 | g.55308295G= | CA2343355664 | BRSK1 | c.2090-344G= (n.2090-344G=) c.1175-344G= (n.1175-344G=) c.2138-344G= (n.2138-344G=) c.1820-344G= (n.1820-344G=) c.1847-344G= (n.1847-344G=) n.2073-344G= c.1562-344G= (n.1562-344G=) c.1865-344G= (n.1865-344G=) n.2371-344G= | |
19 | g.55308296A= | CA2343355665 | BRSK1 | c.2090-343A= (n.2090-343A=) c.1175-343A= (n.1175-343A=) c.2138-343A= (n.2138-343A=) c.1820-343A= (n.1820-343A=) c.1847-343A= (n.1847-343A=) n.2073-343A= c.1562-343A= (n.1562-343A=) c.1865-343A= (n.1865-343A=) n.2371-343A= | |
19 | g.55308296A>T | CA883744263 | BRSK1 | c.2090-343A>T (n.2090-343A>T) c.1175-343A>T (n.1175-343A>T) c.2138-343A>T (n.2138-343A>T) c.1820-343A>T (n.1820-343A>T) c.1847-343A>T (n.1847-343A>T) n.2073-343A>T c.1562-343A>T (n.1562-343A>T) c.1865-343A>T (n.1865-343A>T) n.2371-343A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308298T>G | CA883744264 | BRSK1 | c.2090-341T>G (n.2090-341T>G) c.1175-341T>G (n.1175-341T>G) c.2138-341T>G (n.2138-341T>G) c.1820-341T>G (n.1820-341T>G) c.1847-341T>G (n.1847-341T>G) n.2073-341T>G c.1562-341T>G (n.1562-341T>G) c.1865-341T>G (n.1865-341T>G) n.2371-341T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308298T= | CA2343355666 | BRSK1 | c.2090-341T= (n.2090-341T=) c.1175-341T= (n.1175-341T=) c.2138-341T= (n.2138-341T=) c.1820-341T= (n.1820-341T=) c.1847-341T= (n.1847-341T=) n.2073-341T= c.1562-341T= (n.1562-341T=) c.1865-341T= (n.1865-341T=) n.2371-341T= | |
19 | g.55308300C= | CA2343355667 | BRSK1 | c.2090-339C= (n.2090-339C=) c.1175-339C= (n.1175-339C=) c.2138-339C= (n.2138-339C=) c.1820-339C= (n.1820-339C=) c.1847-339C= (n.1847-339C=) n.2073-339C= c.1562-339C= (n.1562-339C=) c.1865-339C= (n.1865-339C=) n.2371-339C= | |
19 | g.55308300C>T | CA883744265 | BRSK1 | c.2090-339C>T (n.2090-339C>T) c.1175-339C>T (n.1175-339C>T) c.2138-339C>T (n.2138-339C>T) c.1820-339C>T (n.1820-339C>T) c.1847-339C>T (n.1847-339C>T) n.2073-339C>T c.1562-339C>T (n.1562-339C>T) c.1865-339C>T (n.1865-339C>T) n.2371-339C>T | dbSNP |
19 | g.55308301A= | CA2343355668 | BRSK1 | c.2090-338A= (n.2090-338A=) c.1175-338A= (n.1175-338A=) c.2138-338A= (n.2138-338A=) c.1820-338A= (n.1820-338A=) c.1847-338A= (n.1847-338A=) n.2073-338A= c.1562-338A= (n.1562-338A=) c.1865-338A= (n.1865-338A=) n.2371-338A= | |
19 | g.55308301A>G | CA997262725 | BRSK1 | c.2090-338A>G (n.2090-338A>G) c.1175-338A>G (n.1175-338A>G) c.2138-338A>G (n.2138-338A>G) c.1820-338A>G (n.1820-338A>G) c.1847-338A>G (n.1847-338A>G) n.2073-338A>G c.1562-338A>G (n.1562-338A>G) c.1865-338A>G (n.1865-338A>G) n.2371-338A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308301dup | CA310134817 | BRSK1 | c.2090-338dup (n.2090-338dup) c.1175-338dup (n.1175-338dup) c.2138-338dup (n.2138-338dup) c.1820-338dup (n.1820-338dup) c.1847-338dup (n.1847-338dup) n.2073-338dup c.1562-338dup (n.1562-338dup) c.1865-338dup (n.1865-338dup) n.2371-338dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308302G>A | CA310134829 | BRSK1 | c.2090-337G>A (n.2090-337G>A) c.1175-337G>A (n.1175-337G>A) c.2138-337G>A (n.2138-337G>A) c.1820-337G>A (n.1820-337G>A) c.1847-337G>A (n.1847-337G>A) n.2073-337G>A c.1562-337G>A (n.1562-337G>A) c.1865-337G>A (n.1865-337G>A) n.2371-337G>A | dbSNP |
19 | g.55308302G= | CA2343355669 | BRSK1 | c.2090-337G= (n.2090-337G=) c.1175-337G= (n.1175-337G=) c.2138-337G= (n.2138-337G=) c.1820-337G= (n.1820-337G=) c.1847-337G= (n.1847-337G=) n.2073-337G= c.1562-337G= (n.1562-337G=) c.1865-337G= (n.1865-337G=) n.2371-337G= | |
19 | g.55308305A>G | CA997262726 | BRSK1 | c.2090-334A>G (n.2090-334A>G) c.1175-334A>G (n.1175-334A>G) c.2138-334A>G (n.2138-334A>G) c.1820-334A>G (n.1820-334A>G) c.1847-334A>G (n.1847-334A>G) n.2073-334A>G c.1562-334A>G (n.1562-334A>G) c.1865-334A>G (n.1865-334A>G) n.2371-334A>G | gnomAD v3 gnomAD v4 |
19 | g.55308306T>C | CA883744267 | BRSK1 | c.2090-333T>C (n.2090-333T>C) c.1175-333T>C (n.1175-333T>C) c.2138-333T>C (n.2138-333T>C) c.1820-333T>C (n.1820-333T>C) c.1847-333T>C (n.1847-333T>C) n.2073-333T>C c.1562-333T>C (n.1562-333T>C) c.1865-333T>C (n.1865-333T>C) n.2371-333T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308306T= | CA2343355670 | BRSK1 | c.2090-333T= (n.2090-333T=) c.1175-333T= (n.1175-333T=) c.2138-333T= (n.2138-333T=) c.1820-333T= (n.1820-333T=) c.1847-333T= (n.1847-333T=) n.2073-333T= c.1562-333T= (n.1562-333T=) c.1865-333T= (n.1865-333T=) n.2371-333T= | |
19 | g.55308307G>A | CA2343355672 | BRSK1 | c.2090-332G>A (n.2090-332G>A) c.1175-332G>A (n.1175-332G>A) c.2138-332G>A (n.2138-332G>A) c.1820-332G>A (n.1820-332G>A) c.1847-332G>A (n.1847-332G>A) n.2073-332G>A c.1562-332G>A (n.1562-332G>A) c.1865-332G>A (n.1865-332G>A) n.2371-332G>A | dbSNP |
19 | g.55308307G= | CA2343355673 | BRSK1 | c.2090-332G= (n.2090-332G=) c.1175-332G= (n.1175-332G=) c.2138-332G= (n.2138-332G=) c.1820-332G= (n.1820-332G=) c.1847-332G= (n.1847-332G=) n.2073-332G= c.1562-332G= (n.1562-332G=) c.1865-332G= (n.1865-332G=) n.2371-332G= | |
19 | g.55308307_55308308delinsGA | CA2343355671 | BRSK1 | c.2090-332_2090-331delinsGA (n.2090-332_2090-331delinsGA) c.1175-332_1175-331delinsGA (n.1175-332_1175-331delinsGA) c.2138-332_2138-331delinsGA (n.2138-332_2138-331delinsGA) c.1820-332_1820-331delinsGA (n.1820-332_1820-331delinsGA) c.1847-332_1847-331delinsGA (n.1847-332_1847-331delinsGA) n.2073-332_2073-331delinsGA c.1562-332_1562-331delinsGA (n.1562-332_1562-331delinsGA) c.1865-332_1865-331delinsGA (n.1865-332_1865-331delinsGA) n.2371-332_2371-331delinsGA | |
19 | g.55308308del | CA310134853 | BRSK1 | c.2090-331del (n.2090-331del) c.1175-331del (n.1175-331del) c.2138-331del (n.2138-331del) c.1820-331del (n.1820-331del) c.1847-331del (n.1847-331del) n.2073-331del c.1562-331del (n.1562-331del) c.1865-331del (n.1865-331del) n.2371-331del | dbSNP |
19 | g.55308308A= | CA2343355675 | BRSK1 | c.2090-331A= (n.2090-331A=) c.1175-331A= (n.1175-331A=) c.2138-331A= (n.2138-331A=) c.1820-331A= (n.1820-331A=) c.1847-331A= (n.1847-331A=) n.2073-331A= c.1562-331A= (n.1562-331A=) c.1865-331A= (n.1865-331A=) n.2371-331A= | |
19 | g.55308308A>C | CA2343355674 | BRSK1 | c.2090-331A>C (n.2090-331A>C) c.1175-331A>C (n.1175-331A>C) c.2138-331A>C (n.2138-331A>C) c.1820-331A>C (n.1820-331A>C) c.1847-331A>C (n.1847-331A>C) n.2073-331A>C c.1562-331A>C (n.1562-331A>C) c.1865-331A>C (n.1865-331A>C) n.2371-331A>C | dbSNP |
19 | g.55308310C= | CA2343355676 | BRSK1 | c.2090-329C= (n.2090-329C=) c.1175-329C= (n.1175-329C=) c.2138-329C= (n.2138-329C=) c.1820-329C= (n.1820-329C=) c.1847-329C= (n.1847-329C=) n.2073-329C= c.1562-329C= (n.1562-329C=) c.1865-329C= (n.1865-329C=) n.2371-329C= | |
19 | g.55308310C>G | CA310134854 | BRSK1 | c.2090-329C>G (n.2090-329C>G) c.1175-329C>G (n.1175-329C>G) c.2138-329C>G (n.2138-329C>G) c.1820-329C>G (n.1820-329C>G) c.1847-329C>G (n.1847-329C>G) n.2073-329C>G c.1562-329C>G (n.1562-329C>G) c.1865-329C>G (n.1865-329C>G) n.2371-329C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308311C= | CA2343355677 | BRSK1 | c.2090-328C= (n.2090-328C=) c.1175-328C= (n.1175-328C=) c.2138-328C= (n.2138-328C=) c.1820-328C= (n.1820-328C=) c.1847-328C= (n.1847-328C=) n.2073-328C= c.1562-328C= (n.1562-328C=) c.1865-328C= (n.1865-328C=) n.2371-328C= | |
19 | g.55308311C>T | CA310134855 | BRSK1 | c.2090-328C>T (n.2090-328C>T) c.1175-328C>T (n.1175-328C>T) c.2138-328C>T (n.2138-328C>T) c.1820-328C>T (n.1820-328C>T) c.1847-328C>T (n.1847-328C>T) n.2073-328C>T c.1562-328C>T (n.1562-328C>T) c.1865-328C>T (n.1865-328C>T) n.2371-328C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308312C= | CA2343355678 | BRSK1 | c.2090-327C= (n.2090-327C=) c.1175-327C= (n.1175-327C=) c.2138-327C= (n.2138-327C=) c.1820-327C= (n.1820-327C=) c.1847-327C= (n.1847-327C=) n.2073-327C= c.1562-327C= (n.1562-327C=) c.1865-327C= (n.1865-327C=) n.2371-327C= | |
19 | g.55308312C>T | CA310134856 | BRSK1 | c.2090-327C>T (n.2090-327C>T) c.1175-327C>T (n.1175-327C>T) c.2138-327C>T (n.2138-327C>T) c.1820-327C>T (n.1820-327C>T) c.1847-327C>T (n.1847-327C>T) n.2073-327C>T c.1562-327C>T (n.1562-327C>T) c.1865-327C>T (n.1865-327C>T) n.2371-327C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308312_55308313insTTCATGGCCT | CA310134867 | BRSK1 | c.2090-327_2090-326insTTCATGGCCT (n.2090-327_2090-326insTTCATGGCCT) c.1175-327_1175-326insTTCATGGCCT (n.1175-327_1175-326insTTCATGGCCT) c.2138-327_2138-326insTTCATGGCCT (n.2138-327_2138-326insTTCATGGCCT) c.1820-327_1820-326insTTCATGGCCT (n.1820-327_1820-326insTTCATGGCCT) c.1847-327_1847-326insTTCATGGCCT (n.1847-327_1847-326insTTCATGGCCT) n.2073-327_2073-326insTTCATGGCCT c.1562-327_1562-326insTTCATGGCCT (n.1562-327_1562-326insTTCATGGCCT) c.1865-327_1865-326insTTCATGGCCT (n.1865-327_1865-326insTTCATGGCCT) n.2371-327_2371-326insTTCATGGCCT | dbSNP |
19 | g.55308312_55308313insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT | CA997262755 | BRSK1 | c.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.2090-327_2090-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1175-327_1175-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1175-327_1175-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.2138-327_2138-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.2138-327_2138-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1820-327_1820-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1820-327_1820-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1847-327_1847-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1847-327_1847-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) n.2073-327_2073-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT c.1562-327_1562-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1562-327_1562-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1865-327_1865-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1865-327_1865-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) n.2371-327_2371-326insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT | gnomAD v3 gnomAD v4 |
19 | g.55308315_55308316insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG | CA997262756 | BRSK1 | c.2090-324_2090-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG (n.2090-324_2090-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG) c.1175-324_1175-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG (n.1175-324_1175-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG) c.2138-324_2138-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG (n.2138-324_2138-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG) c.1820-324_1820-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG (n.1820-324_1820-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG) c.1847-324_1847-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG (n.1847-324_1847-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG) n.2073-324_2073-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG c.1562-324_1562-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG (n.1562-324_1562-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG) c.1865-324_1865-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG (n.1865-324_1865-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG) n.2371-324_2371-323insGACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTG | gnomAD v3 gnomAD v4 |
19 | g.55308316_55308317insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT | CA997262740 | BRSK1 | c.2090-323_2090-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT (n.2090-323_2090-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT) c.1175-323_1175-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT (n.1175-323_1175-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT) c.2138-323_2138-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT (n.2138-323_2138-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT) c.1820-323_1820-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT (n.1820-323_1820-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT) c.1847-323_1847-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT (n.1847-323_1847-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT) n.2073-323_2073-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT c.1562-323_1562-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT (n.1562-323_1562-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT) c.1865-323_1865-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT (n.1865-323_1865-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT) n.2371-323_2371-322insCCCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGT | gnomAD v3 gnomAD v4 |
19 | g.55308317_55308318insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA | CA997262752 | BRSK1 | c.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA (n.2090-322_2090-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA) c.1175-322_1175-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA (n.1175-322_1175-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA) c.2138-322_2138-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA (n.2138-322_2138-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA) c.1820-322_1820-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA (n.1820-322_1820-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA) c.1847-322_1847-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA (n.1847-322_1847-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA) n.2073-322_2073-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA c.1562-322_1562-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA (n.1562-322_1562-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA) c.1865-322_1865-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA (n.1865-322_1865-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA) n.2371-322_2371-321insTCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTA | gnomAD v3 gnomAD v4 |
19 | g.55308318_55308319insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC | CA997262751 | BRSK1 | c.2090-321_2090-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC (n.2090-321_2090-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC) c.1175-321_1175-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC (n.1175-321_1175-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC) c.2138-321_2138-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC (n.2138-321_2138-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC) c.1820-321_1820-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC (n.1820-321_1820-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC) c.1847-321_1847-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC (n.1847-321_1847-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC) n.2073-321_2073-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC c.1562-321_1562-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC (n.1562-321_1562-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC) c.1865-321_1865-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC (n.1865-321_1865-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC) n.2371-321_2371-320insGTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTAC | gnomAD v3 gnomAD v4 |
19 | g.55308320_55308321insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | CA997262750 | BRSK1 | c.2090-319_2090-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2090-319_2090-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1175-319_1175-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1175-319_1175-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.2138-319_2138-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2138-319_2138-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1820-319_1820-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1820-319_1820-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1847-319_1847-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1847-319_1847-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2073-319_2073-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT c.1562-319_1562-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1562-319_1562-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1865-319_1865-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1865-319_1865-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2371-319_2371-318insTGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | gnomAD v3 gnomAD v4 |
19 | g.55308320_55308321insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | CA997262757 | BRSK1 | c.2090-319_2090-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2090-319_2090-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1175-319_1175-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1175-319_1175-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.2138-319_2138-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2138-319_2138-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1820-319_1820-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1820-319_1820-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1847-319_1847-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1847-319_1847-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2073-319_2073-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT c.1562-319_1562-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1562-319_1562-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1865-319_1865-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1865-319_1865-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2371-319_2371-318insAGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | gnomAD v3 gnomAD v4 |
19 | g.55308320_55308321insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | CA2814886355 | BRSK1 | c.2090-319_2090-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2090-319_2090-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1175-319_1175-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1175-319_1175-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.2138-319_2138-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2138-319_2138-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1820-319_1820-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1820-319_1820-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1847-319_1847-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1847-319_1847-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2073-319_2073-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT c.1562-319_1562-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1562-319_1562-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1865-319_1865-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1865-319_1865-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2371-319_2371-318insTGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | |
19 | g.55308320_55308321insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | CA997262758 | BRSK1 | c.2090-319_2090-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2090-319_2090-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1175-319_1175-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1175-319_1175-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.2138-319_2138-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2138-319_2138-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1820-319_1820-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1820-319_1820-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1847-319_1847-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1847-319_1847-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2073-319_2073-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT c.1562-319_1562-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1562-319_1562-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1865-319_1865-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1865-319_1865-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2371-319_2371-318insCGCCCCACCTTATTCTCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | gnomAD v3 gnomAD v4 |
19 | g.55308320_55308321insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | CA2582275966 | BRSK1 | c.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2090-319_2090-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1175-319_1175-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1175-319_1175-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.2138-319_2138-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.2138-319_2138-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1820-319_1820-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1820-319_1820-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1847-319_1847-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1847-319_1847-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2073-319_2073-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT c.1562-319_1562-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1562-319_1562-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) c.1865-319_1865-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT (n.1865-319_1865-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT) n.2371-319_2371-318insCGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCT | gnomAD v3 gnomAD v4 |
19 | g.55308321_55308322insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG | CA997262759 | BRSK1 | c.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.2090-318_2090-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1175-318_1175-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1175-318_1175-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.2138-318_2138-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.2138-318_2138-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1820-318_1820-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1820-318_1820-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1847-318_1847-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1847-318_1847-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) n.2073-318_2073-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG c.1562-318_1562-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1562-318_1562-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1865-318_1865-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1865-318_1865-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) n.2371-318_2371-317insACTACAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG | gnomAD v3 gnomAD v4 |
19 | g.55308321_55308322insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG | CA2515100557 | BRSK1 | c.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.2090-318_2090-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1175-318_1175-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1175-318_1175-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.2138-318_2138-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.2138-318_2138-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1820-318_1820-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1820-318_1820-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1847-318_1847-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1847-318_1847-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) n.2073-318_2073-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG c.1562-318_1562-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1562-318_1562-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) c.1865-318_1865-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG (n.1865-318_1865-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG) n.2371-318_2371-317insTCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTG | |
19 | g.55308322_55308323insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG | CA997262749 | BRSK1 | c.2090-317_2090-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.2090-317_2090-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1175-317_1175-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1175-317_1175-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.2138-317_2138-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.2138-317_2138-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1820-317_1820-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1820-317_1820-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1847-317_1847-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1847-317_1847-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) n.2073-317_2073-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG c.1562-317_1562-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1562-317_1562-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1865-317_1865-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1865-317_1865-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) n.2371-317_2371-316insGTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308322_55308323insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG | CA997262760 | BRSK1 | c.2090-317_2090-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.2090-317_2090-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1175-317_1175-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1175-317_1175-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.2138-317_2138-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.2138-317_2138-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1820-317_1820-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1820-317_1820-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1847-317_1847-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1847-317_1847-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) n.2073-317_2073-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG c.1562-317_1562-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1562-317_1562-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) c.1865-317_1865-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG (n.1865-317_1865-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG) n.2371-317_2371-316insATCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGG | gnomAD v3 gnomAD v4 |
19 | g.55308323_55308324insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC | CA997262761 | BRSK1 | c.2090-316_2090-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC (n.2090-316_2090-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC) c.1175-316_1175-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC (n.1175-316_1175-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC) c.2138-316_2138-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC (n.2138-316_2138-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC) c.1820-316_1820-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC (n.1820-316_1820-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC) c.1847-316_1847-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC (n.1847-316_1847-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC) n.2073-316_2073-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC c.1562-316_1562-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC (n.1562-316_1562-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC) c.1865-316_1865-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC (n.1865-316_1865-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC) n.2371-316_2371-315insGCCAACTTATTGTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGC | gnomAD v3 gnomAD v4 |
19 | g.55308324_55308325insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT | CA997262748 | BRSK1 | c.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT (n.2090-315_2090-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT) c.1175-315_1175-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT (n.1175-315_1175-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT) c.2138-315_2138-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT (n.2138-315_2138-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT) c.1820-315_1820-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT (n.1820-315_1820-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT) c.1847-315_1847-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT (n.1847-315_1847-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT) n.2073-315_2073-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT c.1562-315_1562-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT (n.1562-315_1562-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT) c.1865-315_1865-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT (n.1865-315_1865-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT) n.2371-315_2371-314insTCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCT | gnomAD v3 gnomAD v4 |
19 | g.55308325_55308326insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC | CA997262747 | BRSK1 | c.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.2090-314_2090-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1175-314_1175-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1175-314_1175-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.2138-314_2138-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.2138-314_2138-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1820-314_1820-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1820-314_1820-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1847-314_1847-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1847-314_1847-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) n.2073-314_2073-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC c.1562-314_1562-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1562-314_1562-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1865-314_1865-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1865-314_1865-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) n.2371-314_2371-313insGAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC | gnomAD v3 gnomAD v4 |
19 | g.55308325_55308326insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC | CA997262762 | BRSK1 | c.2090-314_2090-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.2090-314_2090-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1175-314_1175-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1175-314_1175-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.2138-314_2138-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.2138-314_2138-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1820-314_1820-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1820-314_1820-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1847-314_1847-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1847-314_1847-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) n.2073-314_2073-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC c.1562-314_1562-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1562-314_1562-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) c.1865-314_1865-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC (n.1865-314_1865-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC) n.2371-314_2371-313insAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTC | gnomAD v3 gnomAD v4 |
19 | g.55308326_55308327insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC | CA2582275965 | BRSK1 | c.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.2090-313_2090-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1175-313_1175-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1175-313_1175-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.2138-313_2138-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.2138-313_2138-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1820-313_1820-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1820-313_1820-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1847-313_1847-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1847-313_1847-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) n.2073-313_2073-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC c.1562-313_1562-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1562-313_1562-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1865-313_1865-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1865-313_1865-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) n.2371-313_2371-312insTACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC | gnomAD v3 gnomAD v4 |
19 | g.55308326_55308327insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC | CA997262746 | BRSK1 | c.2090-313_2090-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.2090-313_2090-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1175-313_1175-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1175-313_1175-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.2138-313_2138-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.2138-313_2138-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1820-313_1820-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1820-313_1820-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1847-313_1847-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1847-313_1847-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) n.2073-313_2073-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC c.1562-313_1562-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1562-313_1562-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) c.1865-313_1865-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC (n.1865-313_1865-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC) n.2371-313_2371-312insCACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCC | gnomAD v3 gnomAD v4 |
19 | g.55308327_55308328insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA | CA997262743 | BRSK1 | c.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.2090-312_2090-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1175-312_1175-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1175-312_1175-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.2138-312_2138-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.2138-312_2138-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1820-312_1820-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1820-312_1820-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1847-312_1847-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1847-312_1847-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) n.2073-312_2073-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA c.1562-312_1562-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1562-312_1562-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1865-312_1865-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1865-312_1865-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) n.2371-312_2371-311insCCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA | |
19 | g.55308327_55308328insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA | CA997262744 | BRSK1 | c.2090-312_2090-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.2090-312_2090-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1175-312_1175-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1175-312_1175-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.2138-312_2138-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.2138-312_2138-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1820-312_1820-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1820-312_1820-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1847-312_1847-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1847-312_1847-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) n.2073-312_2073-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA c.1562-312_1562-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1562-312_1562-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1865-312_1865-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1865-312_1865-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) n.2371-312_2371-311insGCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA | gnomAD v3 gnomAD v4 |
19 | g.55308327_55308328insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA | CA997262745 | BRSK1 | c.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.2090-312_2090-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1175-312_1175-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1175-312_1175-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.2138-312_2138-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.2138-312_2138-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1820-312_1820-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1820-312_1820-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1847-312_1847-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1847-312_1847-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) n.2073-312_2073-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA c.1562-312_1562-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1562-312_1562-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) c.1865-312_1865-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA (n.1865-312_1865-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA) n.2371-312_2371-311insTCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCA | gnomAD v3 gnomAD v4 |
19 | g.55308329_55308330insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC | CA997262764 | BRSK1 | c.2090-310_2090-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.2090-310_2090-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1175-310_1175-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1175-310_1175-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.2138-310_2138-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.2138-310_2138-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1820-310_1820-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1820-310_1820-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1847-310_1847-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1847-310_1847-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) n.2073-310_2073-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC c.1562-310_1562-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1562-310_1562-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1865-310_1865-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1865-310_1865-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) n.2371-310_2371-309insATATTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC | |
19 | g.55308329_55308330insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC | CA997262765 | BRSK1 | c.2090-310_2090-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.2090-310_2090-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1175-310_1175-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1175-310_1175-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.2138-310_2138-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.2138-310_2138-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1820-310_1820-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1820-310_1820-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1847-310_1847-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1847-310_1847-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) n.2073-310_2073-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC c.1562-310_1562-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1562-310_1562-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1865-310_1865-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1865-310_1865-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) n.2371-310_2371-309insCTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308329_55308330insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC | CA997262763 | BRSK1 | c.2090-310_2090-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.2090-310_2090-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1175-310_1175-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1175-310_1175-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.2138-310_2138-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.2138-310_2138-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1820-310_1820-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1820-310_1820-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1847-310_1847-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1847-310_1847-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) n.2073-310_2073-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC c.1562-310_1562-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1562-310_1562-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) c.1865-310_1865-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC (n.1865-310_1865-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC) n.2371-310_2371-309insATATTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAC | gnomAD v3 gnomAD v4 |
19 | g.55308331_55308332insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT | CA997262741 | BRSK1 | c.2090-308_2090-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.2090-308_2090-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1175-308_1175-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1175-308_1175-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.2138-308_2138-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.2138-308_2138-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1820-308_1820-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1820-308_1820-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1847-308_1847-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1847-308_1847-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) n.2073-308_2073-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT c.1562-308_1562-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1562-308_1562-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1865-308_1865-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1865-308_1865-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) n.2371-308_2371-307insCTTTTTCTTATATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT | gnomAD v3 gnomAD v4 |
19 | g.55308331_55308332insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT | CA997262742 | BRSK1 | c.2090-308_2090-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.2090-308_2090-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1175-308_1175-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1175-308_1175-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.2138-308_2138-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.2138-308_2138-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1820-308_1820-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1820-308_1820-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1847-308_1847-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1847-308_1847-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) n.2073-308_2073-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT c.1562-308_1562-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1562-308_1562-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1865-308_1865-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1865-308_1865-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) n.2371-308_2371-307insGTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT | dbSNP |
19 | g.55308331_55308332insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT | CA997262727 | BRSK1 | c.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1175-308_1175-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1175-308_1175-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.2138-308_2138-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.2138-308_2138-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1820-308_1820-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1820-308_1820-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1847-308_1847-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1847-308_1847-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) n.2073-308_2073-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT c.1562-308_1562-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1562-308_1562-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) c.1865-308_1865-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT (n.1865-308_1865-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT) n.2371-308_2371-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT | gnomAD v3 gnomAD v4 |
19 | g.55308332_55308333insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA | CA997262766 | BRSK1 | c.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA (n.2090-307_2090-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA) c.1175-307_1175-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA (n.1175-307_1175-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA) c.2138-307_2138-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA (n.2138-307_2138-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA) c.1820-307_1820-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA (n.1820-307_1820-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA) c.1847-307_1847-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA (n.1847-307_1847-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA) n.2073-307_2073-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA c.1562-307_1562-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA (n.1562-307_1562-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA) c.1865-307_1865-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA (n.1865-307_1865-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA) n.2371-307_2371-306insCTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTA | gnomAD v3 gnomAD v4 |
19 | g.55308333_55308334insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT | CA997262767 | BRSK1 | c.2090-306_2090-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.2090-306_2090-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1175-306_1175-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1175-306_1175-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.2138-306_2138-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.2138-306_2138-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1820-306_1820-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1820-306_1820-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1847-306_1847-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1847-306_1847-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) n.2073-306_2073-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT c.1562-306_1562-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1562-306_1562-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1865-306_1865-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1865-306_1865-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) n.2371-306_2371-305insATTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT | gnomAD v3 gnomAD v4 |
19 | g.55308333_55308334insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT | CA997262769 | BRSK1 | c.2090-306_2090-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.2090-306_2090-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1175-306_1175-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1175-306_1175-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.2138-306_2138-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.2138-306_2138-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1820-306_1820-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1820-306_1820-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1847-306_1847-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1847-306_1847-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) n.2073-306_2073-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT c.1562-306_1562-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1562-306_1562-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) c.1865-306_1865-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT (n.1865-306_1865-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT) n.2371-306_2371-305insGTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTAT | gnomAD v3 gnomAD v4 |
19 | g.55308334_55308335insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT | CA997262768 | BRSK1 | c.2090-305_2090-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT (n.2090-305_2090-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT) c.1175-305_1175-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT (n.1175-305_1175-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT) c.2138-305_2138-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT (n.2138-305_2138-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT) c.1820-305_1820-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT (n.1820-305_1820-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT) c.1847-305_1847-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT (n.1847-305_1847-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT) n.2073-305_2073-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT c.1562-305_1562-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT (n.1562-305_1562-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT) c.1865-305_1865-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT (n.1865-305_1865-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT) n.2371-305_2371-304insGTTCTTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATT | gnomAD v3 gnomAD v4 |
19 | g.55308335_55308336insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT | CA997262779 | BRSK1 | c.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT (n.2090-304_2090-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT) c.1175-304_1175-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT (n.1175-304_1175-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT) c.2138-304_2138-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT (n.2138-304_2138-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT) c.1820-304_1820-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT (n.1820-304_1820-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT) c.1847-304_1847-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT (n.1847-304_1847-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT) n.2073-304_2073-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT c.1562-304_1562-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT (n.1562-304_1562-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT) c.1865-304_1865-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT (n.1865-304_1865-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT) n.2371-304_2371-303insGTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308336_55308337insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT | CA997262777 | BRSK1 | c.2090-303_2090-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.2090-303_2090-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1175-303_1175-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1175-303_1175-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.2138-303_2138-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.2138-303_2138-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1820-303_1820-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1820-303_1820-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1847-303_1847-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1847-303_1847-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) n.2073-303_2073-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT c.1562-303_1562-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1562-303_1562-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1865-303_1865-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1865-303_1865-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) n.2371-303_2371-302insGCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT | gnomAD v3 gnomAD v4 |
19 | g.55308336_55308337insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT | CA997262778 | BRSK1 | c.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.2090-303_2090-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1175-303_1175-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1175-303_1175-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.2138-303_2138-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.2138-303_2138-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1820-303_1820-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1820-303_1820-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1847-303_1847-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1847-303_1847-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) n.2073-303_2073-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT c.1562-303_1562-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1562-303_1562-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) c.1865-303_1865-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT (n.1865-303_1865-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT) n.2371-303_2371-302insCCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTT | gnomAD v3 gnomAD v4 |
19 | g.55308337_55308338insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT | CA997262776 | BRSK1 | c.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.2090-302_2090-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1175-302_1175-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1175-302_1175-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.2138-302_2138-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.2138-302_2138-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1820-302_1820-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1820-302_1820-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1847-302_1847-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1847-302_1847-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) n.2073-302_2073-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT c.1562-302_1562-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1562-302_1562-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1865-302_1865-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1865-302_1865-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) n.2371-302_2371-301insATTACAGTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT | gnomAD v3 gnomAD v4 |
19 | g.55308337_55308338insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT | CA997262775 | BRSK1 | c.2090-302_2090-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.2090-302_2090-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1175-302_1175-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1175-302_1175-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.2138-302_2138-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.2138-302_2138-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1820-302_1820-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1820-302_1820-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1847-302_1847-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1847-302_1847-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) n.2073-302_2073-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT c.1562-302_1562-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1562-302_1562-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) c.1865-302_1865-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT (n.1865-302_1865-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT) n.2371-302_2371-301insATTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTT | gnomAD v3 gnomAD v4 |
19 | g.55308338_55308339insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC | CA997262780 | BRSK1 | c.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC (n.2090-301_2090-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC) c.1175-301_1175-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC (n.1175-301_1175-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC) c.2138-301_2138-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC (n.2138-301_2138-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC) c.1820-301_1820-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC (n.1820-301_1820-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC) c.1847-301_1847-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC (n.1847-301_1847-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC) n.2073-301_2073-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC c.1562-301_1562-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC (n.1562-301_1562-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC) c.1865-301_1865-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC (n.1865-301_1865-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC) n.2371-301_2371-300insCTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTC | gnomAD v3 gnomAD v4 |
19 | g.55308339_55308340insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT | CA997262774 | BRSK1 | c.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.2090-300_2090-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1175-300_1175-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1175-300_1175-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.2138-300_2138-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.2138-300_2138-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1820-300_1820-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1820-300_1820-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1847-300_1847-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1847-300_1847-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) n.2073-300_2073-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT c.1562-300_1562-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1562-300_1562-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1865-300_1865-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1865-300_1865-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) n.2371-300_2371-299insCACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308339_55308340insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT | CA997262773 | BRSK1 | c.2090-300_2090-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.2090-300_2090-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1175-300_1175-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1175-300_1175-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.2138-300_2138-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.2138-300_2138-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1820-300_1820-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1820-300_1820-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1847-300_1847-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1847-300_1847-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) n.2073-300_2073-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT c.1562-300_1562-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1562-300_1562-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) c.1865-300_1865-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT (n.1865-300_1865-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT) n.2371-300_2371-299insGACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308340_55308341insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT | CA997262739 | BRSK1 | c.2090-299_2090-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.2090-299_2090-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1175-299_1175-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1175-299_1175-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.2138-299_2138-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.2138-299_2138-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1820-299_1820-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1820-299_1820-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1847-299_1847-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1847-299_1847-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) n.2073-299_2073-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT c.1562-299_1562-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1562-299_1562-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1865-299_1865-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1865-299_1865-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) n.2371-299_2371-298insTCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT | gnomAD v3 gnomAD v4 |
19 | g.55308340_55308341insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT | CA997262738 | BRSK1 | c.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.2090-299_2090-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1175-299_1175-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1175-299_1175-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.2138-299_2138-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.2138-299_2138-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1820-299_1820-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1820-299_1820-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1847-299_1847-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1847-299_1847-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) n.2073-299_2073-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT c.1562-299_1562-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1562-299_1562-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) c.1865-299_1865-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT (n.1865-299_1865-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT) n.2371-299_2371-298insCCATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTT | gnomAD v3 gnomAD v4 |
19 | g.55308342_55308343insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC | CA997262737 | BRSK1 | c.2090-297_2090-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.2090-297_2090-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1175-297_1175-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1175-297_1175-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.2138-297_2138-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.2138-297_2138-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1820-297_1820-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1820-297_1820-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1847-297_1847-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1847-297_1847-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) n.2073-297_2073-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC c.1562-297_1562-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1562-297_1562-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1865-297_1865-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1865-297_1865-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) n.2371-297_2371-296insTTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC | gnomAD v3 gnomAD v4 |
19 | g.55308342_55308343insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC | CA997262736 | BRSK1 | c.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1175-297_1175-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1175-297_1175-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.2138-297_2138-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.2138-297_2138-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1847-297_1847-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1847-297_1847-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) n.2073-297_2073-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC c.1562-297_1562-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1562-297_1562-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) c.1865-297_1865-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC (n.1865-297_1865-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC) n.2371-297_2371-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTAC | gnomAD v3 gnomAD v4 |
19 | g.55308343_55308344insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA | CA997262772 | BRSK1 | c.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA (n.2090-296_2090-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA) c.1175-296_1175-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA (n.1175-296_1175-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA) c.2138-296_2138-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA (n.2138-296_2138-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA) c.1820-296_1820-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA (n.1820-296_1820-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA) c.1847-296_1847-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA (n.1847-296_1847-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA) n.2073-296_2073-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA c.1562-296_1562-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA (n.1562-296_1562-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA) c.1865-296_1865-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA (n.1865-296_1865-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA) n.2371-296_2371-295insCTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACA | gnomAD v3 gnomAD v4 |
19 | g.55308344_55308345insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT | CA997262771 | BRSK1 | c.2090-295_2090-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.2090-295_2090-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1175-295_1175-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1175-295_1175-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.2138-295_2138-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.2138-295_2138-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1820-295_1820-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1820-295_1820-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1847-295_1847-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1847-295_1847-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) n.2073-295_2073-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT c.1562-295_1562-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1562-295_1562-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1865-295_1865-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1865-295_1865-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) n.2371-295_2371-294insATCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT | gnomAD v3 gnomAD v4 |
19 | g.55308344_55308345insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT | CA997262770 | BRSK1 | c.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.2090-295_2090-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1175-295_1175-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1175-295_1175-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.2138-295_2138-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.2138-295_2138-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1820-295_1820-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1820-295_1820-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1847-295_1847-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1847-295_1847-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) n.2073-295_2073-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT c.1562-295_1562-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1562-295_1562-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) c.1865-295_1865-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT (n.1865-295_1865-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT) n.2371-295_2371-294insCTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACAT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308345_55308346insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT | CA997262753 | BRSK1 | c.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT (n.2090-294_2090-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT) c.1175-294_1175-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT (n.1175-294_1175-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT) c.2138-294_2138-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT (n.2138-294_2138-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT) c.1820-294_1820-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT (n.1820-294_1820-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT) c.1847-294_1847-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT (n.1847-294_1847-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT) n.2073-294_2073-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT c.1562-294_1562-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT (n.1562-294_1562-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT) c.1865-294_1865-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT (n.1865-294_1865-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT) n.2371-294_2371-293insCCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATT | gnomAD v3 gnomAD v4 |
19 | g.55308346_55308347insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT | CA997262754 | BRSK1 | c.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.2090-293_2090-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1175-293_1175-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1175-293_1175-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.2138-293_2138-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.2138-293_2138-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1820-293_1820-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1820-293_1820-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1847-293_1847-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1847-293_1847-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT) n.2073-293_2073-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT c.1562-293_1562-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1562-293_1562-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1865-293_1865-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1865-293_1865-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT) n.2371-293_2371-292insATGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTT | gnomAD v3 gnomAD v4 |
19 | g.55308348_55308349insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT | CA997262735 | BRSK1 | c.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT (n.2090-291_2090-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT) c.1175-291_1175-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT (n.1175-291_1175-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT) c.2138-291_2138-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT (n.2138-291_2138-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT) c.1820-291_1820-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT (n.1820-291_1820-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT) c.1847-291_1847-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT (n.1847-291_1847-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT) n.2073-291_2073-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT c.1562-291_1562-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT (n.1562-291_1562-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT) c.1865-291_1865-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT (n.1865-291_1865-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT) n.2371-291_2371-290insTGTCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCT | gnomAD v3 gnomAD v4 |
19 | g.55308349_55308350insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG | CA2565202571 | BRSK1 | c.2090-290_2090-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG (n.2090-290_2090-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG) c.1175-290_1175-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG (n.1175-290_1175-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG) c.2138-290_2138-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG (n.2138-290_2138-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG) c.1820-290_1820-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG (n.1820-290_1820-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG) c.1847-290_1847-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG (n.1847-290_1847-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG) n.2073-290_2073-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG c.1562-290_1562-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG (n.1562-290_1562-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG) c.1865-290_1865-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG (n.1865-290_1865-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG) n.2371-290_2371-289insATCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTG | |
19 | g.55308350_55308351insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG | CA997262728 | BRSK1 | c.2090-289_2090-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG (n.2090-289_2090-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG) c.1175-289_1175-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG (n.1175-289_1175-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG) c.2138-289_2138-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG (n.2138-289_2138-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG) c.1820-289_1820-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG (n.1820-289_1820-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG) c.1847-289_1847-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG (n.1847-289_1847-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG) n.2073-289_2073-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG c.1562-289_1562-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG (n.1562-289_1562-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG) c.1865-289_1865-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG (n.1865-289_1865-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG) n.2371-289_2371-288insGCCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGG | gnomAD v3 gnomAD v4 |
19 | g.55308351_55308352insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT | CA997262733 | BRSK1 | c.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.2090-288_2090-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1175-288_1175-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1175-288_1175-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.2138-288_2138-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.2138-288_2138-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1820-288_1820-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1820-288_1820-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1847-288_1847-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1847-288_1847-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) n.2073-288_2073-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT c.1562-288_1562-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1562-288_1562-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1865-288_1865-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1865-288_1865-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) n.2371-288_2371-287insGCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT | gnomAD v3 gnomAD v4 |
19 | g.55308351_55308352insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT | CA997262734 | BRSK1 | c.2090-288_2090-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.2090-288_2090-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1175-288_1175-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1175-288_1175-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.2138-288_2138-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.2138-288_2138-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1820-288_1820-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1820-288_1820-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1847-288_1847-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1847-288_1847-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) n.2073-288_2073-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT c.1562-288_1562-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1562-288_1562-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1865-288_1865-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1865-288_1865-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) n.2371-288_2371-287insTCTTCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT | gnomAD v3 gnomAD v4 |
19 | g.55308354_55308355insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT | CA2556586335 | BRSK1 | c.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.2090-285_2090-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1175-285_1175-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1175-285_1175-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.2138-285_2138-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.2138-285_2138-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1820-285_1820-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1820-285_1820-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1847-285_1847-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1847-285_1847-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) n.2073-285_2073-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT c.1562-285_1562-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1562-285_1562-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1865-285_1865-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1865-285_1865-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) n.2371-285_2371-284insACATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT | |
19 | g.55308354_55308355insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT | CA997262729 | BRSK1 | c.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.2090-285_2090-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1175-285_1175-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1175-285_1175-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.2138-285_2138-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.2138-285_2138-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1820-285_1820-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1820-285_1820-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1847-285_1847-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1847-285_1847-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) n.2073-285_2073-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT c.1562-285_1562-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1562-285_1562-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) c.1865-285_1865-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT (n.1865-285_1865-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT) n.2371-285_2371-284insCCATGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCT | gnomAD v3 gnomAD v4 |
19 | g.55308356_55308357insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC | CA997262732 | BRSK1 | c.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC (n.2090-283_2090-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC) c.1175-283_1175-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC (n.1175-283_1175-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC) c.2138-283_2138-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC (n.2138-283_2138-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC) c.1820-283_1820-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC (n.1820-283_1820-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC) c.1847-283_1847-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC (n.1847-283_1847-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC) n.2073-283_2073-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC c.1562-283_1562-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC (n.1562-283_1562-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC) c.1865-283_1865-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC (n.1865-283_1865-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC) n.2371-283_2371-282insCTGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTC | gnomAD v3 gnomAD v4 |
19 | g.55308357_55308358insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA | CA997262730 | BRSK1 | c.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA (n.2090-282_2090-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA) c.1175-282_1175-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA (n.1175-282_1175-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA) c.2138-282_2138-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA (n.2138-282_2138-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA) c.1820-282_1820-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA (n.1820-282_1820-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA) c.1847-282_1847-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA (n.1847-282_1847-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA) n.2073-282_2073-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA c.1562-282_1562-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA (n.1562-282_1562-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA) c.1865-282_1865-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA (n.1865-282_1865-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA) n.2371-282_2371-281insGGGCCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCA | gnomAD v3 gnomAD v4 |
19 | g.55308359_55308360insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG | CA997262731 | BRSK1 | c.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG (n.2090-280_2090-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG) c.1175-280_1175-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG (n.1175-280_1175-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG) c.2138-280_2138-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG (n.2138-280_2138-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG) c.1820-280_1820-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG (n.1820-280_1820-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG) c.1847-280_1847-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG (n.1847-280_1847-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG) n.2073-280_2073-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG c.1562-280_1562-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG (n.1562-280_1562-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG) c.1865-280_1865-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG (n.1865-280_1865-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG) n.2371-280_2371-279insACCTCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308314_55308364dup | CA310134883 | BRSK1 | c.2090-325_2090-275dup (n.2090-325_2090-275dup) c.1175-325_1175-275dup (n.1175-325_1175-275dup) c.2138-325_2138-275dup (n.2138-325_2138-275dup) c.1820-325_1820-275dup (n.1820-325_1820-275dup) c.1847-325_1847-275dup (n.1847-325_1847-275dup) n.2073-325_2073-275dup c.1562-325_1562-275dup (n.1562-325_1562-275dup) c.1865-325_1865-275dup (n.1865-325_1865-275dup) n.2371-325_2371-275dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC | CA2544426927 | BRSK1 | c.2090-275_2090-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insAGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC | |
19 | g.55308318C= | CA2343355679 | BRSK1 | c.2090-321C= (n.2090-321C=) c.1175-321C= (n.1175-321C=) c.2138-321C= (n.2138-321C=) c.1820-321C= (n.1820-321C=) c.1847-321C= (n.1847-321C=) n.2073-321C= c.1562-321C= (n.1562-321C=) c.1865-321C= (n.1865-321C=) n.2371-321C= | |
19 | g.55308318C>G | CA2343355680 | BRSK1 | c.2090-321C>G (n.2090-321C>G) c.1175-321C>G (n.1175-321C>G) c.2138-321C>G (n.2138-321C>G) c.1820-321C>G (n.1820-321C>G) c.1847-321C>G (n.1847-321C>G) n.2073-321C>G c.1562-321C>G (n.1562-321C>G) c.1865-321C>G (n.1865-321C>G) n.2371-321C>G | dbSNP |
19 | g.55308325C= | CA2343355681 | BRSK1 | c.2090-314C= (n.2090-314C=) c.1175-314C= (n.1175-314C=) c.2138-314C= (n.2138-314C=) c.1820-314C= (n.1820-314C=) c.1847-314C= (n.1847-314C=) n.2073-314C= c.1562-314C= (n.1562-314C=) c.1865-314C= (n.1865-314C=) n.2371-314C= | |
19 | g.55308325C>T | CA310134888 | BRSK1 | c.2090-314C>T (n.2090-314C>T) c.1175-314C>T (n.1175-314C>T) c.2138-314C>T (n.2138-314C>T) c.1820-314C>T (n.1820-314C>T) c.1847-314C>T (n.1847-314C>T) n.2073-314C>T c.1562-314C>T (n.1562-314C>T) c.1865-314C>T (n.1865-314C>T) n.2371-314C>T | dbSNP |
19 | g.55308364_55308365insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC | CA633862362 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCAAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308328A= | CA2343355682 | BRSK1 | c.2090-311A= (n.2090-311A=) c.1175-311A= (n.1175-311A=) c.2138-311A= (n.2138-311A=) c.1820-311A= (n.1820-311A=) c.1847-311A= (n.1847-311A=) n.2073-311A= c.1562-311A= (n.1562-311A=) c.1865-311A= (n.1865-311A=) n.2371-311A= | |
19 | g.55308328A>G | CA310134891 | BRSK1 | c.2090-311A>G (n.2090-311A>G) c.1175-311A>G (n.1175-311A>G) c.2138-311A>G (n.2138-311A>G) c.1820-311A>G (n.1820-311A>G) c.1847-311A>G (n.1847-311A>G) n.2073-311A>G c.1562-311A>G (n.1562-311A>G) c.1865-311A>G (n.1865-311A>G) n.2371-311A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308329C>G | CA2830646122 | BRSK1 | c.2090-310C>G (n.2090-310C>G) c.1175-310C>G (n.1175-310C>G) c.2138-310C>G (n.2138-310C>G) c.1820-310C>G (n.1820-310C>G) c.1847-310C>G (n.1847-310C>G) n.2073-310C>G c.1562-310C>G (n.1562-310C>G) c.1865-310C>G (n.1865-310C>G) n.2371-310C>G | |
19 | g.55308364_55308365insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC | CA997262781 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCACCTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308342_55308343insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC | CA997262782 | BRSK1 | c.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC (n.2090-297_2090-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC) c.1175-297_1175-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC (n.1175-297_1175-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC) c.2138-297_2138-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC (n.2138-297_2138-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC) c.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC (n.1820-297_1820-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC) c.1847-297_1847-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC (n.1847-297_1847-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC) n.2073-297_2073-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC c.1562-297_1562-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC (n.1562-297_1562-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC) c.1865-297_1865-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC (n.1865-297_1865-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC) n.2371-297_2371-296insCTTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAAATTATTTTTCTTAC | gnomAD v3 gnomAD v4 |
19 | g.55308336T>A | CA2582275967 | BRSK1 | c.2090-303T>A (n.2090-303T>A) c.1175-303T>A (n.1175-303T>A) c.2138-303T>A (n.2138-303T>A) c.1820-303T>A (n.1820-303T>A) c.1847-303T>A (n.1847-303T>A) n.2073-303T>A c.1562-303T>A (n.1562-303T>A) c.1865-303T>A (n.1865-303T>A) n.2371-303T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308337T>G | CA310134892 | BRSK1 | c.2090-302T>G (n.2090-302T>G) c.1175-302T>G (n.1175-302T>G) c.2138-302T>G (n.2138-302T>G) c.1820-302T>G (n.1820-302T>G) c.1847-302T>G (n.1847-302T>G) n.2073-302T>G c.1562-302T>G (n.1562-302T>G) c.1865-302T>G (n.1865-302T>G) n.2371-302T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308337T= | CA2343355683 | BRSK1 | c.2090-302T= (n.2090-302T=) c.1175-302T= (n.1175-302T=) c.2138-302T= (n.2138-302T=) c.1820-302T= (n.1820-302T=) c.1847-302T= (n.1847-302T=) n.2073-302T= c.1562-302T= (n.1562-302T=) c.1865-302T= (n.1865-302T=) n.2371-302T= | |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC | CA997262783 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTATTACATTTCTGGTCCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308341A= | CA2343355684 | BRSK1 | c.2090-298A= (n.2090-298A=) c.1175-298A= (n.1175-298A=) c.2138-298A= (n.2138-298A=) c.1820-298A= (n.1820-298A=) c.1847-298A= (n.1847-298A=) n.2073-298A= c.1562-298A= (n.1562-298A=) c.1865-298A= (n.1865-298A=) n.2371-298A= | |
19 | g.55308341A>T | CA310134907 | BRSK1 | c.2090-298A>T (n.2090-298A>T) c.1175-298A>T (n.1175-298A>T) c.2138-298A>T (n.2138-298A>T) c.1820-298A>T (n.1820-298A>T) c.1847-298A>T (n.1847-298A>T) n.2073-298A>T c.1562-298A>T (n.1562-298A>T) c.1865-298A>T (n.1865-298A>T) n.2371-298A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308342C>A | CA883744287 | BRSK1 | c.2090-297C>A (n.2090-297C>A) c.1175-297C>A (n.1175-297C>A) c.2138-297C>A (n.2138-297C>A) c.1820-297C>A (n.1820-297C>A) c.1847-297C>A (n.1847-297C>A) n.2073-297C>A c.1562-297C>A (n.1562-297C>A) c.1865-297C>A (n.1865-297C>A) n.2371-297C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308342C= | CA2343355685 | BRSK1 | c.2090-297C= (n.2090-297C=) c.1175-297C= (n.1175-297C=) c.2138-297C= (n.2138-297C=) c.1820-297C= (n.1820-297C=) c.1847-297C= (n.1847-297C=) n.2073-297C= c.1562-297C= (n.1562-297C=) c.1865-297C= (n.1865-297C=) n.2371-297C= | |
19 | g.55308342C>T | CA883744288 | BRSK1 | c.2090-297C>T (n.2090-297C>T) c.1175-297C>T (n.1175-297C>T) c.2138-297C>T (n.2138-297C>T) c.1820-297C>T (n.1820-297C>T) c.1847-297C>T (n.1847-297C>T) n.2073-297C>T c.1562-297C>T (n.1562-297C>T) c.1865-297C>T (n.1865-297C>T) n.2371-297C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC | CA997262784 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTGCATTTCTGGTCCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308343_55308344delinsAT | CA2343355686 | BRSK1 | c.2090-296_2090-295delinsAT (n.2090-296_2090-295delinsAT) c.1175-296_1175-295delinsAT (n.1175-296_1175-295delinsAT) c.2138-296_2138-295delinsAT (n.2138-296_2138-295delinsAT) c.1820-296_1820-295delinsAT (n.1820-296_1820-295delinsAT) c.1847-296_1847-295delinsAT (n.1847-296_1847-295delinsAT) n.2073-296_2073-295delinsAT c.1562-296_1562-295delinsAT (n.1562-296_1562-295delinsAT) c.1865-296_1865-295delinsAT (n.1865-296_1865-295delinsAT) n.2371-296_2371-295delinsAT | |
19 | g.55308344T= | CA2343355687 | BRSK1 | c.2090-295T= (n.2090-295T=) c.1175-295T= (n.1175-295T=) c.2138-295T= (n.2138-295T=) c.1820-295T= (n.1820-295T=) c.1847-295T= (n.1847-295T=) n.2073-295T= c.1562-295T= (n.1562-295T=) c.1865-295T= (n.1865-295T=) n.2371-295T= | |
19 | g.55308346del | CA883744290 | BRSK1 | c.2090-293del (n.2090-293del) c.1175-293del (n.1175-293del) c.2138-293del (n.2138-293del) c.1820-293del (n.1820-293del) c.1847-293del (n.1847-293del) n.2073-293del c.1562-293del (n.1562-293del) c.1865-293del (n.1865-293del) n.2371-293del | dbSNP |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC | CA997262785 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACCTTTCTGGTCCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC | CA997262786 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTCTGGTCCTTCATGGCCTC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC | CA997262787 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACAGTTCTGGTCCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308349G>T | CA997262788 | BRSK1 | c.2090-290G>T (n.2090-290G>T) c.1175-290G>T (n.1175-290G>T) c.2138-290G>T (n.2138-290G>T) c.1820-290G>T (n.1820-290G>T) c.1847-290G>T (n.1847-290G>T) n.2073-290G>T c.1562-290G>T (n.1562-290G>T) c.1865-290G>T (n.1865-290G>T) n.2371-290G>T | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC | CA997262789 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTTGTCCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC | CA997262790 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGTTCCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC | CA997262791 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGACCTTCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308363_55308364insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT | CA2849094970 | BRSK1 | c.2090-276_2090-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT (n.2090-276_2090-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT) c.1175-276_1175-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT (n.1175-276_1175-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT) c.2138-276_2138-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT (n.2138-276_2138-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT) c.1820-276_1820-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT (n.1820-276_1820-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT) c.1847-276_1847-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT (n.1847-276_1847-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT) n.2073-276_2073-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT c.1562-276_1562-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT (n.1562-276_1562-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT) c.1865-276_1865-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT (n.1865-276_1865-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT) n.2371-276_2371-275insATGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCTTTCATGGCCT | |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC | CA997262792 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTGCATGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308357A= | CA2343355688 | BRSK1 | c.2090-282A= (n.2090-282A=) c.1175-282A= (n.1175-282A=) c.2138-282A= (n.2138-282A=) c.1820-282A= (n.1820-282A=) c.1847-282A= (n.1847-282A=) n.2073-282A= c.1562-282A= (n.1562-282A=) c.1865-282A= (n.1865-282A=) n.2371-282A= | |
19 | g.55308357A>G | CA883744291 | BRSK1 | c.2090-282A>G (n.2090-282A>G) c.1175-282A>G (n.1175-282A>G) c.2138-282A>G (n.2138-282A>G) c.1820-282A>G (n.1820-282A>G) c.1847-282A>G (n.1847-282A>G) n.2073-282A>G c.1562-282A>G (n.1562-282A>G) c.1865-282A>G (n.1865-282A>G) n.2371-282A>G | dbSNP |
19 | g.55308358T= | CA2343355689 | BRSK1 | c.2090-281T= (n.2090-281T=) c.1175-281T= (n.1175-281T=) c.2138-281T= (n.2138-281T=) c.1820-281T= (n.1820-281T=) c.1847-281T= (n.1847-281T=) n.2073-281T= c.1562-281T= (n.1562-281T=) c.1865-281T= (n.1865-281T=) n.2371-281T= | |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC | CA997262793 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC | CA997262794 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCAGGGCCTC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308360G>C | CA2343355691 | BRSK1 | c.2090-279G>C (n.2090-279G>C) c.1175-279G>C (n.1175-279G>C) c.2138-279G>C (n.2138-279G>C) c.1820-279G>C (n.1820-279G>C) c.1847-279G>C (n.1847-279G>C) n.2073-279G>C c.1562-279G>C (n.1562-279G>C) c.1865-279G>C (n.1865-279G>C) n.2371-279G>C | dbSNP |
19 | g.55308360G= | CA2343355690 | BRSK1 | c.2090-279G= (n.2090-279G=) c.1175-279G= (n.1175-279G=) c.2138-279G= (n.2138-279G=) c.1820-279G= (n.1820-279G=) c.1847-279G= (n.1847-279G=) n.2073-279G= c.1562-279G= (n.1562-279G=) c.1865-279G= (n.1865-279G=) n.2371-279G= | |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC | CA997262795 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC | CA997262796 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTGCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308361C= | CA2343355692 | BRSK1 | c.2090-278C= (n.2090-278C=) c.1175-278C= (n.1175-278C=) c.2138-278C= (n.2138-278C=) c.1820-278C= (n.1820-278C=) c.1847-278C= (n.1847-278C=) n.2073-278C= c.1562-278C= (n.1562-278C=) c.1865-278C= (n.1865-278C=) n.2371-278C= | |
19 | g.55308361C>G | CA310134910 | BRSK1 | c.2090-278C>G (n.2090-278C>G) c.1175-278C>G (n.1175-278C>G) c.2138-278C>G (n.2138-278C>G) c.1820-278C>G (n.1820-278C>G) c.1847-278C>G (n.1847-278C>G) n.2073-278C>G c.1562-278C>G (n.1562-278C>G) c.1865-278C>G (n.1865-278C>G) n.2371-278C>G | dbSNP |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC | CA997262799 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGTCCTC | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC | CA997262800 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATTTCCTC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC | CA997262798 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGACCTC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC | CA2814886356 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGCCCTC | |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC | CA997262797 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATCCCCTC | dbSNP |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC | CA2814886357 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGACTC | |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC | CA633862363 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGGCTC | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308364C= | CA2343355693 | BRSK1 | c.2090-275C= (n.2090-275C=) c.1175-275C= (n.1175-275C=) c.2138-275C= (n.2138-275C=) c.1820-275C= (n.1820-275C=) c.1847-275C= (n.1847-275C=) n.2073-275C= c.1562-275C= (n.1562-275C=) c.1865-275C= (n.1865-275C=) n.2371-275C= | |
19 | g.55308364_55308365insTGTA | CA633862366 | BRSK1 | c.2090-275_2090-274insTGTA (n.2090-275_2090-274insTGTA) c.1175-275_1175-274insTGTA (n.1175-275_1175-274insTGTA) c.2138-275_2138-274insTGTA (n.2138-275_2138-274insTGTA) c.1820-275_1820-274insTGTA (n.1820-275_1820-274insTGTA) c.1847-275_1847-274insTGTA (n.1847-275_1847-274insTGTA) n.2073-275_2073-274insTGTA c.1562-275_1562-274insTGTA (n.1562-275_1562-274insTGTA) c.1865-275_1865-274insTGTA (n.1865-275_1865-274insTGTA) n.2371-275_2371-274insTGTA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCT | CA997262808 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCT (n.2090-275_2090-274insTGTACCTGGCT) c.1175-275_1175-274insTGTACCTGGCT (n.1175-275_1175-274insTGTACCTGGCT) c.2138-275_2138-274insTGTACCTGGCT (n.2138-275_2138-274insTGTACCTGGCT) c.1820-275_1820-274insTGTACCTGGCT (n.1820-275_1820-274insTGTACCTGGCT) c.1847-275_1847-274insTGTACCTGGCT (n.1847-275_1847-274insTGTACCTGGCT) n.2073-275_2073-274insTGTACCTGGCT c.1562-275_1562-274insTGTACCTGGCT (n.1562-275_1562-274insTGTACCTGGCT) c.1865-275_1865-274insTGTACCTGGCT (n.1865-275_1865-274insTGTACCTGGCT) n.2371-275_2371-274insTGTACCTGGCT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAA | CA997262807 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAA (n.2090-275_2090-274insTGTACCTGGCTCCAA) c.1175-275_1175-274insTGTACCTGGCTCCAA (n.1175-275_1175-274insTGTACCTGGCTCCAA) c.2138-275_2138-274insTGTACCTGGCTCCAA (n.2138-275_2138-274insTGTACCTGGCTCCAA) c.1820-275_1820-274insTGTACCTGGCTCCAA (n.1820-275_1820-274insTGTACCTGGCTCCAA) c.1847-275_1847-274insTGTACCTGGCTCCAA (n.1847-275_1847-274insTGTACCTGGCTCCAA) n.2073-275_2073-274insTGTACCTGGCTCCAA c.1562-275_1562-274insTGTACCTGGCTCCAA (n.1562-275_1562-274insTGTACCTGGCTCCAA) c.1865-275_1865-274insTGTACCTGGCTCCAA (n.1865-275_1865-274insTGTACCTGGCTCCAA) n.2371-275_2371-274insTGTACCTGGCTCCAA | gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTT | CA997262805 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTT (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTT) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTT (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTT) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTT (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTT) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTT (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTT) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTT (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTT) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTT c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTT (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTT) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTT (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTT) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTA | CA920140666 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTA (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTA) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTA (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTA) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTA (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTA) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTA (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTA) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTA (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTA) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTA c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTA (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTA) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTA (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTA) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTT | CA997262804 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT | CA997262803 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT | CA997262806 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT c.1562-275_1562-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATCTTTCTTACATTTCTGGT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT | CA997262802 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG | CA633862365 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308364_55308365insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT | CA997262801 | BRSK1 | c.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.2090-275_2090-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1175-275_1175-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.2138-275_2138-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1820-275_1820-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1847-275_1847-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) n.2073-275_2073-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT c.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1562-275_1562-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) c.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT (n.1865-275_1865-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT) n.2371-275_2371-274insTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308365C= | CA2343355694 | BRSK1 | c.2090-274C= (n.2090-274C=) c.1175-274C= (n.1175-274C=) c.2138-274C= (n.2138-274C=) c.1820-274C= (n.1820-274C=) c.1847-274C= (n.1847-274C=) n.2073-274C= c.1562-274C= (n.1562-274C=) c.1865-274C= (n.1865-274C=) n.2371-274C= | |
19 | g.55308365C>T | CA883744302 | BRSK1 | c.2090-274C>T (n.2090-274C>T) c.1175-274C>T (n.1175-274C>T) c.2138-274C>T (n.2138-274C>T) c.1820-274C>T (n.1820-274C>T) c.1847-274C>T (n.1847-274C>T) n.2073-274C>T c.1562-274C>T (n.1562-274C>T) c.1865-274C>T (n.1865-274C>T) n.2371-274C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308365_55308366insCTG | CA633862367 | BRSK1 | c.2090-274_2090-273insCTG (n.2090-274_2090-273insCTG) c.1175-274_1175-273insCTG (n.1175-274_1175-273insCTG) c.2138-274_2138-273insCTG (n.2138-274_2138-273insCTG) c.1820-274_1820-273insCTG (n.1820-274_1820-273insCTG) c.1847-274_1847-273insCTG (n.1847-274_1847-273insCTG) n.2073-274_2073-273insCTG c.1562-274_1562-273insCTG (n.1562-274_1562-273insCTG) c.1865-274_1865-273insCTG (n.1865-274_1865-273insCTG) n.2371-274_2371-273insCTG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308365_55308366insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT | CA997262809 | BRSK1 | c.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT (n.2090-274_2090-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT) c.1175-274_1175-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT (n.1175-274_1175-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT) c.2138-274_2138-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT (n.2138-274_2138-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT) c.1820-274_1820-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT (n.1820-274_1820-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT) c.1847-274_1847-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT (n.1847-274_1847-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT) n.2073-274_2073-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT c.1562-274_1562-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT (n.1562-274_1562-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT) c.1865-274_1865-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT (n.1865-274_1865-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT) n.2371-274_2371-273insCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGCCTCT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308366G>A | CA310134913 | BRSK1 | c.2090-273G>A (n.2090-273G>A) c.1175-273G>A (n.1175-273G>A) c.2138-273G>A (n.2138-273G>A) c.1820-273G>A (n.1820-273G>A) c.1847-273G>A (n.1847-273G>A) n.2073-273G>A c.1562-273G>A (n.1562-273G>A) c.1865-273G>A (n.1865-273G>A) n.2371-273G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308366G= | CA2343355695 | BRSK1 | c.2090-273G= (n.2090-273G=) c.1175-273G= (n.1175-273G=) c.2138-273G= (n.2138-273G=) c.1820-273G= (n.1820-273G=) c.1847-273G= (n.1847-273G=) n.2073-273G= c.1562-273G= (n.1562-273G=) c.1865-273G= (n.1865-273G=) n.2371-273G= | |
19 | g.55308366G>T | CA997262810 | BRSK1 | c.2090-273G>T (n.2090-273G>T) c.1175-273G>T (n.1175-273G>T) c.2138-273G>T (n.2138-273G>T) c.1820-273G>T (n.1820-273G>T) c.1847-273G>T (n.1847-273G>T) n.2073-273G>T c.1562-273G>T (n.1562-273G>T) c.1865-273G>T (n.1865-273G>T) n.2371-273G>T | gnomAD v3 gnomAD v4 |
19 | g.55308366_55308367insTAC | CA997262816 | BRSK1 | c.2090-273_2090-272insTAC (n.2090-273_2090-272insTAC) c.1175-273_1175-272insTAC (n.1175-273_1175-272insTAC) c.2138-273_2138-272insTAC (n.2138-273_2138-272insTAC) c.1820-273_1820-272insTAC (n.1820-273_1820-272insTAC) c.1847-273_1847-272insTAC (n.1847-273_1847-272insTAC) n.2073-273_2073-272insTAC c.1562-273_1562-272insTAC (n.1562-273_1562-272insTAC) c.1865-273_1865-272insTAC (n.1865-273_1865-272insTAC) n.2371-273_2371-272insTAC | gnomAD v3 gnomAD v4 |
19 | g.55308366_55308367insTACCTGGCTCCAA | CA997262817 | BRSK1 | c.2090-273_2090-272insTACCTGGCTCCAA (n.2090-273_2090-272insTACCTGGCTCCAA) c.1175-273_1175-272insTACCTGGCTCCAA (n.1175-273_1175-272insTACCTGGCTCCAA) c.2138-273_2138-272insTACCTGGCTCCAA (n.2138-273_2138-272insTACCTGGCTCCAA) c.1820-273_1820-272insTACCTGGCTCCAA (n.1820-273_1820-272insTACCTGGCTCCAA) c.1847-273_1847-272insTACCTGGCTCCAA (n.1847-273_1847-272insTACCTGGCTCCAA) n.2073-273_2073-272insTACCTGGCTCCAA c.1562-273_1562-272insTACCTGGCTCCAA (n.1562-273_1562-272insTACCTGGCTCCAA) c.1865-273_1865-272insTACCTGGCTCCAA (n.1865-273_1865-272insTACCTGGCTCCAA) n.2371-273_2371-272insTACCTGGCTCCAA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308366_55308367insTACCTGGCTCCAACTTATTTTT | CA997262814 | BRSK1 | c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTT (n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTT) c.1175-273_1175-272insTACCTGGCTCCAACTTATTTTT (n.1175-273_1175-272insTACCTGGCTCCAACTTATTTTT) c.2138-273_2138-272insTACCTGGCTCCAACTTATTTTT (n.2138-273_2138-272insTACCTGGCTCCAACTTATTTTT) c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTT (n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTT) c.1847-273_1847-272insTACCTGGCTCCAACTTATTTTT (n.1847-273_1847-272insTACCTGGCTCCAACTTATTTTT) n.2073-273_2073-272insTACCTGGCTCCAACTTATTTTT c.1562-273_1562-272insTACCTGGCTCCAACTTATTTTT (n.1562-273_1562-272insTACCTGGCTCCAACTTATTTTT) c.1865-273_1865-272insTACCTGGCTCCAACTTATTTTT (n.1865-273_1865-272insTACCTGGCTCCAACTTATTTTT) n.2371-273_2371-272insTACCTGGCTCCAACTTATTTTT | gnomAD v3 gnomAD v4 |
19 | g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTT | CA997262813 | BRSK1 | c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTT (n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTT) c.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTT (n.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTT) n.2073-273_2073-272insTACCTGGCTCCAACTTATTTTTCTTACATTT c.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTT) c.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTT (n.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTT) n.2371-273_2371-272insTACCTGGCTCCAACTTATTTTTCTTACATTT | gnomAD v3 gnomAD v4 |
19 | g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC | CA997262815 | BRSK1 | c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC (n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC) c.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC (n.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC) c.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC (n.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC) c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC (n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC) c.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC (n.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC) n.2073-273_2073-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC c.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC (n.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC) c.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC (n.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC) n.2371-273_2371-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC | CA997262812 | BRSK1 | c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC (n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC) c.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC (n.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC) c.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC (n.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC) c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC (n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC) c.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC (n.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC) n.2073-273_2073-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC c.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC (n.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC) c.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC (n.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC) n.2371-273_2371-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC | gnomAD v3 gnomAD v4 |
19 | g.55308366_55308367insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC | CA997262811 | BRSK1 | c.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC (n.2090-273_2090-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC) c.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC (n.1175-273_1175-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC) c.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC (n.2138-273_2138-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC) c.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC (n.1820-273_1820-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC) c.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC (n.1847-273_1847-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC) n.2073-273_2073-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC c.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC (n.1562-273_1562-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC) c.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC (n.1865-273_1865-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC) n.2371-273_2371-272insTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCCTGGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55308367C= | CA2343355696 | BRSK1 | c.2090-272C= (n.2090-272C=) c.1175-272C= (n.1175-272C=) c.2138-272C= (n.2138-272C=) c.1820-272C= (n.1820-272C=) c.1847-272C= (n.1847-272C=) n.2073-272C= c.1562-272C= (n.1562-272C=) c.1865-272C= (n.1865-272C=) n.2371-272C= | |
19 | g.55308367C>T | CA2343355697 | BRSK1 | c.2090-272C>T (n.2090-272C>T) c.1175-272C>T (n.1175-272C>T) c.2138-272C>T (n.2138-272C>T) c.1820-272C>T (n.1820-272C>T) c.1847-272C>T (n.1847-272C>T) n.2073-272C>T c.1562-272C>T (n.1562-272C>T) c.1865-272C>T (n.1865-272C>T) n.2371-272C>T | dbSNP |
19 | g.55308368_55308369insCCAACTT | CA997262818 | BRSK1 | c.2090-271_2090-270insCCAACTT (n.2090-271_2090-270insCCAACTT) c.1175-271_1175-270insCCAACTT (n.1175-271_1175-270insCCAACTT) c.2138-271_2138-270insCCAACTT (n.2138-271_2138-270insCCAACTT) c.1820-271_1820-270insCCAACTT (n.1820-271_1820-270insCCAACTT) c.1847-271_1847-270insCCAACTT (n.1847-271_1847-270insCCAACTT) n.2073-271_2073-270insCCAACTT c.1562-271_1562-270insCCAACTT (n.1562-271_1562-270insCCAACTT) c.1865-271_1865-270insCCAACTT (n.1865-271_1865-270insCCAACTT) n.2371-271_2371-270insCCAACTT | gnomAD v3 gnomAD v4 |
19 | g.55308368_55308369insCCAACTTATTTTTCTT | CA633862368 | BRSK1 | c.2090-271_2090-270insCCAACTTATTTTTCTT (n.2090-271_2090-270insCCAACTTATTTTTCTT) c.1175-271_1175-270insCCAACTTATTTTTCTT (n.1175-271_1175-270insCCAACTTATTTTTCTT) c.2138-271_2138-270insCCAACTTATTTTTCTT (n.2138-271_2138-270insCCAACTTATTTTTCTT) c.1820-271_1820-270insCCAACTTATTTTTCTT (n.1820-271_1820-270insCCAACTTATTTTTCTT) c.1847-271_1847-270insCCAACTTATTTTTCTT (n.1847-271_1847-270insCCAACTTATTTTTCTT) n.2073-271_2073-270insCCAACTTATTTTTCTT c.1562-271_1562-270insCCAACTTATTTTTCTT (n.1562-271_1562-270insCCAACTTATTTTTCTT) c.1865-271_1865-270insCCAACTTATTTTTCTT (n.1865-271_1865-270insCCAACTTATTTTTCTT) n.2371-271_2371-270insCCAACTTATTTTTCTT | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308369A= | CA2343355698 | BRSK1 | c.2090-270A= (n.2090-270A=) c.1175-270A= (n.1175-270A=) c.2138-270A= (n.2138-270A=) c.1820-270A= (n.1820-270A=) c.1847-270A= (n.1847-270A=) n.2073-270A= c.1562-270A= (n.1562-270A=) c.1865-270A= (n.1865-270A=) n.2371-270A= | |
19 | g.55308369A>C | CA997262819 | BRSK1 | c.2090-270A>C (n.2090-270A>C) c.1175-270A>C (n.1175-270A>C) c.2138-270A>C (n.2138-270A>C) c.1820-270A>C (n.1820-270A>C) c.1847-270A>C (n.1847-270A>C) n.2073-270A>C c.1562-270A>C (n.1562-270A>C) c.1865-270A>C (n.1865-270A>C) n.2371-270A>C | gnomAD v3 gnomAD v4 |
19 | g.55308369A>G | CA633862369 | BRSK1 | c.2090-270A>G (n.2090-270A>G) c.1175-270A>G (n.1175-270A>G) c.2138-270A>G (n.2138-270A>G) c.1820-270A>G (n.1820-270A>G) c.1847-270A>G (n.1847-270A>G) n.2073-270A>G c.1562-270A>G (n.1562-270A>G) c.1865-270A>G (n.1865-270A>G) n.2371-270A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55308369A>T | CA997262820 | BRSK1 | c.2090-270A>T (n.2090-270A>T) c.1175-270A>T (n.1175-270A>T) c.2138-270A>T (n.2138-270A>T) c.1820-270A>T (n.1820-270A>T) c.1847-270A>T (n.1847-270A>T) n.2073-270A>T c.1562-270A>T (n.1562-270A>T) c.1865-270A>T (n.1865-270A>T) n.2371-270A>T | gnomAD v3 gnomAD v4 |
19 | g.55308370G>A | CA997262821 | BRSK1 | c.2090-269G>A (n.2090-269G>A) c.1175-269G>A (n.1175-269G>A) c.2138-269G>A (n.2138-269G>A) c.1820-269G>A (n.1820-269G>A) c.1847-269G>A (n.1847-269G>A) n.2073-269G>A c.1562-269G>A (n.1562-269G>A) c.1865-269G>A (n.1865-269G>A) n.2371-269G>A | gnomAD v3 gnomAD v4 |
19 | g.55308370G>C | CA997262822 | BRSK1 | c.2090-269G>C (n.2090-269G>C) c.1175-269G>C (n.1175-269G>C) c.2138-269G>C (n.2138-269G>C) c.1820-269G>C (n.1820-269G>C) c.1847-269G>C (n.1847-269G>C) n.2073-269G>C c.1562-269G>C (n.1562-269G>C) c.1865-269G>C (n.1865-269G>C) n.2371-269G>C | gnomAD v3 gnomAD v4 |
19 | g.55308371A= | CA2343355699 | BRSK1 | c.2090-268A= (n.2090-268A=) c.1175-268A= (n.1175-268A=) c.2138-268A= (n.2138-268A=) c.1820-268A= (n.1820-268A=) c.1847-268A= (n.1847-268A=) n.2073-268A= c.1562-268A= (n.1562-268A=) c.1865-268A= (n.1865-268A=) n.2371-268A= | |
19 | g.55308371A>C | CA997262823 | BRSK1 | c.2090-268A>C (n.2090-268A>C) c.1175-268A>C (n.1175-268A>C) c.2138-268A>C (n.2138-268A>C) c.1820-268A>C (n.1820-268A>C) c.1847-268A>C (n.1847-268A>C) n.2073-268A>C c.1562-268A>C (n.1562-268A>C) c.1865-268A>C (n.1865-268A>C) n.2371-268A>C | gnomAD v3 gnomAD v4 |
19 | g.55308371A>G | CA310134923 | BRSK1 | c.2090-268A>G (n.2090-268A>G) c.1175-268A>G (n.1175-268A>G) c.2138-268A>G (n.2138-268A>G) c.1820-268A>G (n.1820-268A>G) c.1847-268A>G (n.1847-268A>G) n.2073-268A>G c.1562-268A>G (n.1562-268A>G) c.1865-268A>G (n.1865-268A>G) n.2371-268A>G | dbSNP |
19 | g.55308372A>G | CA997262824 | BRSK1 | c.2090-267A>G (n.2090-267A>G) c.1175-267A>G (n.1175-267A>G) c.2138-267A>G (n.2138-267A>G) c.1820-267A>G (n.1820-267A>G) c.1847-267A>G (n.1847-267A>G) n.2073-267A>G c.1562-267A>G (n.1562-267A>G) c.1865-267A>G (n.1865-267A>G) n.2371-267A>G | gnomAD v3 gnomAD v4 |