Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.40843692_40843755del | CA2585203760 | CYP2A6 | c.*48_*111del (n.*48_*111del) n.452_515del c.119+42277_119+42340del | gnomAD v4 |
19 | g.40843697_40843748delinsCCTGCCCCCAGTCTTAGCTGCGCCCCTCTCCCAAGCCCGGTCTTGGCCCTGC | CA2336176314 | CYP2A6 | c.*48_*99delinsGCAGGGCCAAGACCGGGCTTGGGAGAGGGGCGCAGCTAAGACTGGGGGCAGG (n.*48_*99delinsGCAGGGCCAAGACCGGGCTTGGGAGAGGGGCGCAGCTAAGACTGGGGGCAGG) n.452_503delinsGCAGGGCCAAGACCGGGCTTGGGAGAGGGGCGCAGCTAAGACTGGGGGCAGG c.119+42282_119+42333delinsCCTGCCCCCAGTCTTAGCTGCGCCCCTCTCCCAAGCCCGGTCTTGGCCCTGC | |
19 | g.40843698_40843748delinsTTCCCCCCATTCTTATACCCGCCTCTTCCGCGAACCCCGCCCTGACCCCG | CA308452523 | CYP2A6 | c.*48_*98delinsCGGGGTCAGGGCGGGGTTCGCGGAAGAGGCGGGTATAAGAATGGGGGGAA (n.*48_*98delinsCGGGGTCAGGGCGGGGTTCGCGGAAGAGGCGGGTATAAGAATGGGGGGAA) n.452_502delinsCGGGGTCAGGGCGGGGTTCGCGGAAGAGGCGGGTATAAGAATGGGGGGAA c.119+42283_119+42333delinsTTCCCCCCATTCTTATACCCGCCTCTTCCGCGAACCCCGCCCTGACCCCG | dbSNP |
19 | g.40843708_40843748del | CA2585203796 | CYP2A6 | c.*48_*88del (n.*48_*88del) n.452_492del c.119+42293_119+42333del | gnomAD v4 |
19 | g.40843737_40843748del | CA2585203826 | CYP2A6 | c.*48_*59del (n.*48_*59del) n.452_463del c.119+42322_119+42333del | gnomAD v4 |
19 | g.40843745C>A | CA2576790112 | CYP2A6 | c.*51G>T (n.*51G>T) n.455G>T c.119+42330C>A | |
19 | g.40843746T>A | CA2585203830 | CYP2A6 | c.*50A>T (n.*50A>T) n.454A>T c.119+42331T>A | gnomAD v4 |
19 | g.40843746T>C | CA308452632 | CYP2A6 | c.*50A>G (n.*50A>G) n.454A>G c.119+42331T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40843746T= | CA2336176362 | CYP2A6 | c.*50A= (n.*50A=) n.454A= c.119+42331T= | |
19 | g.40843747G>A | CA2585203832 | CYP2A6 | c.*49C>T (n.*49C>T) n.453C>T c.119+42332G>A | gnomAD v4 |
19 | g.40843747G= | CA2336176364 | CYP2A6 | c.*49C= (n.*49C=) n.453C= c.119+42332G= | |
19 | g.40843747G>T | CA308452648 | CYP2A6 | c.*49C>A (n.*49C>A) n.453C>A c.119+42332G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40843747_40843748delinsGC | CA2336176363 | CYP2A6 | c.*48_*49delinsGC (n.*48_*49delinsGC) n.452_453delinsGC c.119+42332_119+42333delinsGC | |
19 | g.40843751_40843767dup | CA2585203831 | CYP2A6 | c.*33_*49dup (n.*33_*49dup) n.437_453dup c.119+42336_119+42352dup | gnomAD v4 |
19 | g.40843747_40843748insA | CA920110343 | CYP2A6 | c.*48_*49insT (n.*48_*49insT) n.452_453insT c.119+42332_119+42333insA | dbSNP gnomAD v4 |
19 | g.40843748C= | CA2336176365 | CYP2A6 | c.*48G= (n.*48G=) n.452G= c.119+42333C= | |
19 | g.40843748C>G | CA308452678 | CYP2A6 | c.*48G>C (n.*48G>C) n.452G>C c.119+42333C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.40843748C>T | CA633468515 | CYP2A6 | c.*48G>A (n.*48G>A) n.452G>A c.119+42333C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40843750del | CA308452670 | CYP2A6 | c.*48del (n.*48del) n.452del c.119+42335del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843748_40843749insG | CA657304917 | CYP2A6 | c.*47_*48insC (n.*47_*48insC) n.451_452insC c.119+42333_119+42334insG | COSMIC |
19 | g.40843749C>T | CA2585203833 | CYP2A6 | c.*47G>A (n.*47G>A) n.451G>A c.119+42334C>T | gnomAD v4 |
19 | g.40843750_40843751insCGCC | CA920110344 | CYP2A6 | c.*47_*48insCGGG (n.*47_*48insCGGG) n.451_452insCGGG c.119+42335_119+42336insCGCC | dbSNP gnomAD v4 |
19 | g.40843750C>G | CA2576790113 | CYP2A6 | c.*46G>C (n.*46G>C) n.450G>C c.119+42335C>G | gnomAD v4 |
19 | g.40843751T>A | CA2585203834 | CYP2A6 | c.*45A>T (n.*45A>T) n.449A>T c.119+42336T>A | gnomAD v4 |
19 | g.40843752T>G | CA2585203835 | CYP2A6 | c.*44A>C (n.*44A>C) n.448A>C c.119+42337T>G | gnomAD v4 |
19 | g.40843754C= | CA2336176366 | CYP2A6 | c.*42G= (n.*42G=) n.446G= c.119+42339C= | |
19 | g.40843754C>T | CA633468516 | CYP2A6 | c.*42G>A (n.*42G>A) n.446G>A c.119+42339C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40843756del | CA2585203836 | CYP2A6 | c.*42del (n.*42del) n.446del c.119+42341del | gnomAD v4 |
19 | g.40843756C>A | CA882275982 | CYP2A6 | c.*40G>T (n.*40G>T) n.444G>T c.119+42341C>A | dbSNP gnomAD v4 |
19 | g.40843756C= | CA2336176367 | CYP2A6 | c.*40G= (n.*40G=) n.444G= c.119+42341C= | |
19 | g.40843756C>T | CA9452540 | CYP2A6 | c.*40G>A (n.*40G>A) n.444G>A c.119+42341C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40843757T>A | CA2585203837 | CYP2A6 | c.*39A>T (n.*39A>T) n.443A>T c.119+42342T>A | gnomAD v4 |
19 | g.40843757T>C | CA2336176369 | CYP2A6 | c.*39A>G (n.*39A>G) n.443A>G c.119+42342T>C | dbSNP gnomAD v4 |
19 | g.40843757T>G | CA995923376 | CYP2A6 | c.*39A>C (n.*39A>C) n.443A>C c.119+42342T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843757T= | CA2336176368 | CYP2A6 | c.*39A= (n.*39A=) n.443A= c.119+42342T= | |
19 | g.40843758G>A | CA2585203838 | CYP2A6 | c.*38C>T (n.*38C>T) n.442C>T c.119+42343G>A | gnomAD v4 |
19 | g.40843758G>T | CA2576790114 | CYP2A6 | c.*38C>A (n.*38C>A) n.442C>A c.119+42343G>T | |
19 | g.40843759G>A | CA2336176370 | CYP2A6 | c.*37C>T (n.*37C>T) n.441C>T c.119+42344G>A | dbSNP gnomAD v4 |
19 | g.40843759G= | CA2336176371 | CYP2A6 | c.*37C= (n.*37C=) n.441C= c.119+42344G= | |
19 | g.40843759G>T | CA2576790115 | CYP2A6 | c.*37C>A (n.*37C>A) n.441C>A c.119+42344G>T | gnomAD v4 |
19 | g.40843760C>A | CA2585203839 | CYP2A6 | c.*36G>T (n.*36G>T) n.440G>T c.119+42345C>A | gnomAD v4 |
19 | g.40843760C= | CA2336176372 | CYP2A6 | c.*36G= (n.*36G=) n.440G= c.119+42345C= | |
19 | g.40843760C>T | CA2336176373 | CYP2A6 | c.*36G>A (n.*36G>A) n.440G>A c.119+42345C>T | dbSNP gnomAD v4 |
19 | g.40843763del | CA2585203840 | CYP2A6 | c.*36del (n.*36del) n.440del c.119+42348del | gnomAD v4 |
19 | g.40843761C>A | CA2336176375 | CYP2A6 | c.*35G>T (n.*35G>T) n.439G>T c.119+42346C>A | dbSNP gnomAD v4 |
19 | g.40843761C= | CA2336176374 | CYP2A6 | c.*35G= (n.*35G=) n.439G= c.119+42346C= | |
19 | g.40843761C>T | CA633468517 | CYP2A6 | c.*35G>A (n.*35G>A) n.439G>A c.119+42346C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40843762C>A | CA633468518 | CYP2A6 | c.*34G>T (n.*34G>T) n.438G>T c.119+42347C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40843762C= | CA2336176376 | CYP2A6 | c.*34G= (n.*34G=) n.438G= c.119+42347C= | |
19 | g.40843762C>T | CA2336176377 | CYP2A6 | c.*34G>A (n.*34G>A) n.438G>A c.119+42347C>T | dbSNP gnomAD v4 |