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.40843687_40843715del | CA2814417740 | CYP2A6 | c.*81_*109del (n.*81_*109del) n.485_513del c.119+42272_119+42300del | |
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.40843708T>C | CA882275945 | CYP2A6 | c.*88A>G (n.*88A>G) n.492A>G c.119+42293T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843708T>G | CA2814417743 | CYP2A6 | c.*88A>C (n.*88A>C) n.492A>C c.119+42293T>G | |
19 | g.40843708T= | CA2336176324 | CYP2A6 | c.*88A= (n.*88A=) n.492A= c.119+42293T= | |
19 | g.40843708_40843748del | CA2585203796 | CYP2A6 | c.*48_*88del (n.*48_*88del) n.452_492del c.119+42293_119+42333del | gnomAD v4 |
19 | g.40843709C>A | CA2585203797 | CYP2A6 | c.*87G>T (n.*87G>T) n.491G>T c.119+42294C>A | gnomAD v4 |
19 | g.40843709C= | CA2336176325 | CYP2A6 | c.*87G= (n.*87G=) n.491G= c.119+42294C= | |
19 | g.40843709C>G | CA2336176326 | CYP2A6 | c.*87G>C (n.*87G>C) n.491G>C c.119+42294C>G | dbSNP |
19 | g.40843709_40843710insA | CA2814417745 | CYP2A6 | c.*86_*87insT (n.*86_*87insT) n.490_491insT c.119+42294_119+42295insA | |
19 | g.40843710T>C | CA2585203799 | CYP2A6 | c.*86A>G (n.*86A>G) n.490A>G c.119+42295T>C | gnomAD v4 |
19 | g.40843711del | CA2585203798 | CYP2A6 | c.*86del (n.*86del) n.490del c.119+42296del | gnomAD v4 |
19 | g.40843710_40843711insA | CA2814417748 | CYP2A6 | c.*85_*86insT (n.*85_*86insT) n.489_490insT c.119+42295_119+42296insA | |
19 | g.40843711T>A | CA2585203800 | CYP2A6 | c.*85A>T (n.*85A>T) n.489A>T c.119+42296T>A | gnomAD v4 |
19 | g.40843711T>G | CA2814417747 | CYP2A6 | c.*85A>C (n.*85A>C) n.489A>C c.119+42296T>G | |
19 | g.40843712A>C | CA2585203801 | CYP2A6 | c.*84T>G (n.*84T>G) n.488T>G c.119+42297A>C | gnomAD v4 |
19 | g.40843712A>G | CA2585203802 | CYP2A6 | c.*84T>C (n.*84T>C) n.488T>C c.119+42297A>G | gnomAD v4 |
19 | g.40843712_40843713del | CA2814417749 | CYP2A6 | c.*83_*84del (n.*83_*84del) n.487_488del c.119+42297_119+42298del | |
19 | g.40843712_40843714delinsAGC | CA2336176327 | CYP2A6 | c.*82_*84delinsGCT (n.*82_*84delinsGCT) n.486_488delinsGCT c.119+42297_119+42299delinsAGC | |
19 | g.40843712_40843713insTACCC | CA2551741670 | CYP2A6 | c.*83_*84insGGGTA (n.*83_*84insGGGTA) n.487_488insGGGTA c.119+42297_119+42298insTACCC | gnomAD v4 |
19 | g.40843713G>A | CA2814417753 | CYP2A6 | c.*83C>T (n.*83C>T) n.487C>T c.119+42298G>A | |
19 | g.40843713G= | CA2336176328 | CYP2A6 | c.*83C= (n.*83C=) n.487C= c.119+42298G= | |
19 | g.40843713G>T | CA308452543 | CYP2A6 | c.*83C>A (n.*83C>A) n.487C>A c.119+42298G>T | dbSNP gnomAD v4 |
19 | g.40843713_40843714del | CA920110338 | CYP2A6 | c.*82_*83del (n.*82_*83del) n.486_487del c.119+42298_119+42299del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843713_40843719del | CA2814417751 | CYP2A6 | c.*77_*83del (n.*77_*83del) n.481_487del c.119+42298_119+42304del | |
19 | g.40843714C>A | CA308452556 | CYP2A6 | c.*82G>T (n.*82G>T) n.486G>T c.119+42299C>A | dbSNP gnomAD v4 |
19 | g.40843714C= | CA2336176329 | CYP2A6 | c.*82G= (n.*82G=) n.486G= c.119+42299C= | |
19 | g.40843714C>G | CA2585203803 | CYP2A6 | c.*82G>C (n.*82G>C) n.486G>C c.119+42299C>G | gnomAD v4 |
19 | g.40843715T>A | CA2814417754 | CYP2A6 | c.*81A>T (n.*81A>T) n.485A>T c.119+42300T>A | |
19 | g.40843715T>C | CA308452558 | CYP2A6 | c.*81A>G (n.*81A>G) n.485A>G c.119+42300T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843715T>G | CA633468514 | CYP2A6 | c.*81A>C (n.*81A>C) n.485A>C c.119+42300T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40843715T= | CA2336176330 | CYP2A6 | c.*81A= (n.*81A=) n.485A= c.119+42300T= | |
19 | g.40843715_40843716insAC | CA2336176331 | CYP2A6 | c.*80_*81insGT (n.*80_*81insGT) n.484_485insGT c.119+42300_119+42301insAC | dbSNP gnomAD v4 |
19 | g.40843716G>A | CA995923322 | CYP2A6 | c.*80C>T (n.*80C>T) n.484C>T c.119+42301G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843716G>C | CA308452559 | CYP2A6 | c.*80C>G (n.*80C>G) n.484C>G c.119+42301G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843716G= | CA2336176332 | CYP2A6 | c.*80C= (n.*80C=) n.484C= c.119+42301G= | |
19 | g.40843716G>T | CA2585203805 | CYP2A6 | c.*80C>A (n.*80C>A) n.484C>A c.119+42301G>T | gnomAD v4 |
19 | g.40843716dup | CA2585203804 | CYP2A6 | c.*80dup (n.*80dup) n.484dup c.119+42301dup | gnomAD v4 |
19 | g.40843717C>G | CA2585203806 | CYP2A6 | c.*79G>C (n.*79G>C) n.483G>C c.119+42302C>G | gnomAD v4 |
19 | g.40843717C>T | CA2585203807 | CYP2A6 | c.*79G>A (n.*79G>A) n.483G>A c.119+42302C>T | gnomAD v4 |
19 | g.40843718_40843721del | CA2814417756 | CYP2A6 | c.*76_*79del (n.*76_*79del) n.480_483del c.119+42303_119+42306del | |
19 | g.40843718G>A | CA2576790103 | CYP2A6 | c.*78C>T (n.*78C>T) n.482C>T c.119+42303G>A | gnomAD v4 |
19 | g.40843718G>C | CA995923325 | CYP2A6 | c.*78C>G (n.*78C>G) n.482C>G c.119+42303G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40843718G= | CA2336176333 | CYP2A6 | c.*78C= (n.*78C=) n.482C= c.119+42303G= | |
19 | g.40843718G>T | CA2585203808 | CYP2A6 | c.*78C>A (n.*78C>A) n.482C>A c.119+42303G>T | gnomAD v4 |
19 | g.40843718_40843719insAA | CA2585203809 | CYP2A6 | c.*77_*78insTT (n.*77_*78insTT) n.481_482insTT c.119+42303_119+42304insAA | gnomAD v4 |
19 | g.40843719C>A | CA2576790104 | CYP2A6 | c.*77G>T (n.*77G>T) n.481G>T c.119+42304C>A | gnomAD v4 |
19 | g.40843722del | CA2585203810 | CYP2A6 | c.*77del (n.*77del) n.481del c.119+42307del | gnomAD v4 |