Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
11 | g.116832698_116832712dup | CA672201962 | APOC3 | c.180-66_180-52dup (n.180-66_180-52dup) c.234-66_234-52dup (n.234-66_234-52dup) | dbSNP |
11 | g.116832705A= | CA2002760238 | APOC3 | c.180-59A= (n.180-59A=) c.234-59A= (n.234-59A=) | |
11 | g.116832705A>C | CA2616111287 | APOC3 | c.180-59A>C (n.180-59A>C) c.234-59A>C (n.234-59A>C) | gnomAD v4 |
11 | g.116832705A>G | CA2002760239 | APOC3 | c.180-59A>G (n.180-59A>G) c.234-59A>G (n.234-59A>G) | dbSNP |
11 | g.116832706T>A | CA672201984 | APOC3 | c.180-58T>A (n.180-58T>A) c.234-58T>A (n.234-58T>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832706T>C | CA2574986580 | APOC3 | c.180-58T>C (n.180-58T>C) c.234-58T>C (n.234-58T>C) | |
11 | g.116832706T= | CA2002760240 | APOC3 | c.180-58T= (n.180-58T=) c.234-58T= (n.234-58T=) | |
11 | g.116832707G>A | CA229320793 | APOC3 | c.180-57G>A (n.180-57G>A) c.234-57G>A (n.234-57G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832707G= | CA2002760241 | APOC3 | c.180-57G= (n.180-57G=) c.234-57G= (n.234-57G=) | |
11 | g.116832708G>A | CA2002760242 | APOC3 | c.180-56G>A (n.180-56G>A) c.234-56G>A (n.234-56G>A) | dbSNP |
11 | g.116832708G= | CA2002760243 | APOC3 | c.180-56G= (n.180-56G=) c.234-56G= (n.234-56G=) | |
11 | g.116832711G>A | CA942608770 | APOC3 | c.180-53G>A (n.180-53G>A) c.234-53G>A (n.234-53G>A) | dbSNP |
11 | g.116832711G= | CA2002760244 | APOC3 | c.180-53G= (n.180-53G=) c.234-53G= (n.234-53G=) | |
11 | g.116832712C>T | CA2841569730 | APOC3 | c.180-52C>T (n.180-52C>T) c.234-52C>T (n.234-52C>T) | |
11 | g.116832713C= | CA2002760245 | APOC3 | c.180-51C= (n.180-51C=) c.234-51C= (n.234-51C=) | |
11 | g.116832713C>T | CA601825979 | APOC3 | c.180-51C>T (n.180-51C>T) c.234-51C>T (n.234-51C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832714dup | CA2616111288 | APOC3 | c.180-50dup (n.180-50dup) c.234-50dup (n.234-50dup) | gnomAD v4 |
11 | g.116832715A= | CA2002760246 | APOC3 | c.180-49A= (n.180-49A=) c.234-49A= (n.234-49A=) | |
11 | g.116832715A>C | CA229320795 | APOC3 | c.180-49A>C (n.180-49A>C) c.234-49A>C (n.234-49A>C) | dbSNP gnomAD v4 |
11 | g.116832715A>T | CA2616111289 | APOC3 | c.180-49A>T (n.180-49A>T) c.234-49A>T (n.234-49A>T) | gnomAD v4 |
11 | g.116832716C>A | CA2616111290 | APOC3 | c.180-48C>A (n.180-48C>A) c.234-48C>A (n.234-48C>A) | gnomAD v4 |
11 | g.116832716C>G | CA2616111291 | APOC3 | c.180-48C>G (n.180-48C>G) c.234-48C>G (n.234-48C>G) | gnomAD v4 |
11 | g.116832717A>G | CA2567411027 | APOC3 | c.180-47A>G (n.180-47A>G) c.234-47A>G (n.234-47A>G) | |
11 | g.116832717_116832720delinsAGAG | CA2002760247 | APOC3 | c.180-47_180-44delinsAGAG (n.180-47_180-44delinsAGAG) c.234-47_234-44delinsAGAG (n.234-47_234-44delinsAGAG) | |
11 | g.116832718G>A | CA2616111292 | APOC3 | c.180-46G>A (n.180-46G>A) c.234-46G>A (n.234-46G>A) | gnomAD v4 |
11 | g.116832721_116832723del | CA672202001 | APOC3 | c.180-43_180-41del (n.180-43_180-41del) c.234-43_234-41del (n.234-43_234-41del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832720G>A | CA229320797 | APOC3 | c.180-44G>A (n.180-44G>A) c.234-44G>A (n.234-44G>A) | dbSNP |
11 | g.116832720G= | CA2002760248 | APOC3 | c.180-44G= (n.180-44G=) c.234-44G= (n.234-44G=) | |
11 | g.116832721G>A | CA6289675 | APOC3 | c.180-43G>A (n.180-43G>A) c.234-43G>A (n.234-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116832721G= | CA2002760249 | APOC3 | c.180-43G= (n.180-43G=) c.234-43G= (n.234-43G=) | |
11 | g.116832724T>C | CA2616111293 | APOC3 | c.180-40T>C (n.180-40T>C) c.234-40T>C (n.234-40T>C) | gnomAD v4 |
11 | g.116832726C= | CA2002760250 | APOC3 | c.180-38C= (n.180-38C=) c.234-38C= (n.234-38C=) | |
11 | g.116832726C>T | CA2002760251 | APOC3 | c.180-38C>T (n.180-38C>T) c.234-38C>T (n.234-38C>T) | dbSNP |
11 | g.116832729A= | CA2002760252 | APOC3 | c.180-35A= (n.180-35A=) c.234-35A= (n.234-35A=) | |
11 | g.116832729A>C | CA2002760253 | APOC3 | c.180-35A>C (n.180-35A>C) c.234-35A>C (n.234-35A>C) | dbSNP |
11 | g.116832729A>T | CA6289676 | APOC3 | c.180-35A>T (n.180-35A>T) c.234-35A>T (n.234-35A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832730T>C | CA6289677 | APOC3 | c.180-34T>C (n.180-34T>C) c.234-34T>C (n.234-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116832730T= | CA2002760254 | APOC3 | c.180-34T= (n.180-34T=) c.234-34T= (n.234-34T=) | |
11 | g.116832731G>C | CA6289678 | APOC3 | c.180-33G>C (n.180-33G>C) c.234-33G>C (n.234-33G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832731G= | CA2002760255 | APOC3 | c.180-33G= (n.180-33G=) c.234-33G= (n.234-33G=) | |
11 | g.116832732C>T | CA2616111294 | APOC3 | c.180-32C>T (n.180-32C>T) c.234-32C>T (n.234-32C>T) | gnomAD v4 |
11 | g.116832734C>A | CA6289679 | APOC3 | c.180-30C>A (n.180-30C>A) c.234-30C>A (n.234-30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832734C= | CA2002760256 | APOC3 | c.180-30C= (n.180-30C=) c.234-30C= (n.234-30C=) | |
11 | g.116832737C= | CA2002760257 | APOC3 | c.180-27C= (n.180-27C=) c.234-27C= (n.234-27C=) | |
11 | g.116832737C>T | CA672202013 | APOC3 | c.180-27C>T (n.180-27C>T) c.234-27C>T (n.234-27C>T) | dbSNP |
11 | g.116832738T>C | CA654624860 | APOC3 | c.180-26T>C (n.180-26T>C) c.234-26T>C (n.234-26T>C) | COSMIC |
11 | g.116832740T>A | CA2574986581 | APOC3 | c.180-24T>A (n.180-24T>A) c.234-24T>A (n.234-24T>A) | |
11 | g.116832740T>C | CA2519083956 | APOC3 | c.180-24T>C (n.180-24T>C) c.234-24T>C (n.234-24T>C) | gnomAD v4 |
11 | g.116832740T>G | CA6289680 | APOC3 | c.180-24T>G (n.180-24T>G) c.234-24T>G (n.234-24T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116832740T= | CA2002760258 | APOC3 | c.180-24T= (n.180-24T=) c.234-24T= (n.234-24T=) | |
11 | g.116832745C= | CA2002760259 | APOC3 | c.180-19C= (n.180-19C=) c.234-19C= (n.234-19C=) | |
11 | g.116832745C>G | CA601825988 | APOC3 | c.180-19C>G (n.180-19C>G) c.234-19C>G (n.234-19C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832746T>G | CA2793765123 | APOC3 | c.180-18T>G (n.180-18T>G) c.234-18T>G (n.234-18T>G) | |
11 | g.116832748C>A | CA2844614686 | APOC3 | c.180-16C>A (n.180-16C>A) c.234-16C>A (n.234-16C>A) | |
11 | g.116832748C= | CA2002760260 | APOC3 | c.180-16C= (n.180-16C=) c.234-16C= (n.234-16C=) | |
11 | g.116832748C>G | CA2002760261 | APOC3 | c.180-16C>G (n.180-16C>G) c.234-16C>G (n.234-16C>G) | ClinVar dbSNP gnomAD v4 |
11 | g.116832748C>T | CA6289681 | APOC3 | c.180-16C>T (n.180-16C>T) c.234-16C>T (n.234-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832749C= | CA2002760262 | APOC3 | c.180-15C= (n.180-15C=) c.234-15C= (n.234-15C=) | |
11 | g.116832749C>T | CA601825989 | APOC3 | c.180-15C>T (n.180-15C>T) c.234-15C>T (n.234-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832751C= | CA2002760263 | APOC3 | c.180-13C= (n.180-13C=) c.234-13C= (n.234-13C=) | |
11 | g.116832751C>T | CA601825990 | APOC3 | c.180-13C>T (n.180-13C>T) c.234-13C>T (n.234-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832753G>C | CA2616111295 | APOC3 | c.180-11G>C (n.180-11G>C) c.234-11G>C (n.234-11G>C) | gnomAD v4 |
11 | g.116832754A= | CA2002760264 | APOC3 | c.180-10A= (n.180-10A=) c.234-10A= (n.234-10A=) | |
11 | g.116832754A>G | CA2002760265 | APOC3 | c.180-10A>G (n.180-10A>G) c.234-10A>G (n.234-10A>G) | dbSNP |
11 | g.116832755C= | CA2002760266 | APOC3 | c.180-9C= (n.180-9C=) c.234-9C= (n.234-9C=) | |
11 | g.116832755C>T | CA229320824 | APOC3 | c.180-9C>T (n.180-9C>T) c.234-9C>T (n.234-9C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832757G>A | CA6289682 | APOC3 | c.180-7G>A (n.180-7G>A) c.234-7G>A (n.234-7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832757G>C | CA672202029 | APOC3 | c.180-7G>C (n.180-7G>C) c.234-7G>C (n.234-7G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832757G= | CA2002760267 | APOC3 | c.180-7G= (n.180-7G=) c.234-7G= (n.234-7G=) | |
11 | g.116832757G>T | CA2793765124 | APOC3 | c.180-7G>T (n.180-7G>T) c.234-7G>T (n.234-7G>T) | |
11 | g.116832760T>C | CA601825992 | APOC3 | c.180-4T>C (n.180-4T>C) c.234-4T>C (n.234-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832760T= | CA2002760268 | APOC3 | c.180-4T= (n.180-4T=) c.234-4T= (n.234-4T=) | |
11 | g.116832762A>C | CA382711057 | APOC3 | c.180-2A>C (n.180-2A>C) c.234-2A>C (n.234-2A>C) | |
11 | g.116832762A>G | CA382711058 | APOC3 | c.180-2A>G (n.180-2A>G) c.234-2A>G (n.234-2A>G) | |
11 | g.116832762A>T | CA382711060 | APOC3 | c.180-2A>T (n.180-2A>T) c.234-2A>T (n.234-2A>T) | |
11 | g.116832763G>A | CA382711061 | APOC3 | c.180-1G>A (n.180-1G>A) c.234-1G>A (n.234-1G>A) | dbSNP |
11 | g.116832763G>C | CA382711062 | APOC3 | c.180-1G>C (n.180-1G>C) c.234-1G>C (n.234-1G>C) | |
11 | g.116832763G= | CA2002760269 | APOC3 | c.180-1G= (n.180-1G=) c.234-1G= (n.234-1G=) | |
11 | g.116832763G>T | CA382711063 | APOC3 | c.180-1G>T (n.180-1G>T) c.234-1G>T (n.234-1G>T) | |
11 | g.116832766dup | CA2841569731 | APOC3 | c.182dup c.236dup | |
11 | g.116832764G>A | CA6289683 | APOC3 | c.180G>A (p.Arg60=) c.234G>A (p.Arg78=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.116832764G>C | CA382711064 | APOC3 | c.180G>C (p.Arg60Ser) c.234G>C (p.Arg78Ser) | |
11 | g.116832764G= | CA2002760270 | APOC3 | c.180G= (p.Arg60=) c.234G= (p.Arg78=) | |
11 | g.116832764G>T | CA382711066 | APOC3 | c.180G>T (p.Arg60Ser) c.234G>T (p.Arg78Ser) | |
11 | g.116832765G>A | CA382711069 | APOC3 | c.181G>A (p.Gly61Ser) c.235G>A (p.Gly79Ser) | gnomAD v4 |
11 | g.116832765G>C | CA382711071 | APOC3 | c.181G>C (p.Gly61Arg) c.235G>C (p.Gly79Arg) | |
11 | g.116832765G>T | CA382711074 | APOC3 | c.181G>T (p.Gly61Cys) c.235G>T (p.Gly79Cys) | |
11 | g.116832766G>A | CA382711080 | APOC3 | c.182G>A (p.Gly61Asp) c.236G>A (p.Gly79Asp) | |
11 | g.116832766G>C | CA382711077 | APOC3 | c.182G>C (p.Gly61Ala) c.236G>C (p.Gly79Ala) | |
11 | g.116832766G>T | CA382711079 | APOC3 | c.182G>T (p.Gly61Val) c.236G>T (p.Gly79Val) | |
11 | g.116832767C>A | CA476868917 | APOC3 | c.183C>A (p.Gly61=) c.237C>A (p.Gly79=) | |
11 | g.116832767C>G | CA476868918 | APOC3 | c.183C>G (p.Gly61=) c.237C>G (p.Gly79=) | |
11 | g.116832767C>T | CA476868919 | APOC3 | c.183C>T (p.Gly61=) c.237C>T (p.Gly79=) | |
11 | g.116832768T>A | CA382711083 | APOC3 | c.184T>A (p.Trp62Arg) c.238T>A (p.Trp80Arg) | |
11 | g.116832768T>C | CA382711086 | APOC3 | c.184T>C (p.Trp62Arg) c.238T>C (p.Trp80Arg) | |
11 | g.116832768T>G | CA382711088 | APOC3 | c.184T>G (p.Trp62Gly) c.238T>G (p.Trp80Gly) | |
11 | g.116832768_116832769delinsTG | CA2002760271 | APOC3 | c.184_185delinsTG (p.Trp62=) c.238_239delinsTG (p.Trp80=) | |
11 | g.116832769G>A | CA382711090 | APOC3 | c.185G>A (p.Trp62Ter) c.239G>A (p.Trp80Ter) | |
11 | g.116832769G>C | CA382711092 | APOC3 | c.185G>C (p.Trp62Ser) c.239G>C (p.Trp80Ser) | |
11 | g.116832769G>T | CA382711093 | APOC3 | c.185G>T (p.Trp62Leu) c.239G>T (p.Trp80Leu) | COSMIC |
11 | g.116832771del | CA601825996 | APOC3 | c.187del (p.Val63Ter) c.241del (p.Val81Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832770G>A | CA6289684 | APOC3 | c.186G>A (p.Trp62Ter) c.240G>A (p.Trp80Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832770G>C | CA382711096 | APOC3 | c.186G>C (p.Trp62Cys) c.240G>C (p.Trp80Cys) | |
11 | g.116832770G= | CA2002760272 | APOC3 | c.186G= (p.Trp62=) c.240G= (p.Trp80=) | |
11 | g.116832770G>T | CA382711094 | APOC3 | c.186G>T (p.Trp62Cys) c.240G>T (p.Trp80Cys) | gnomAD v4 |
11 | g.116832771G>A | CA382711098 | APOC3 | c.187G>A (p.Val63Met) c.241G>A (p.Val81Met) | dbSNP |
11 | g.116832771G>C | CA382711101 | APOC3 | c.187G>C (p.Val63Leu) c.241G>C (p.Val81Leu) | |
11 | g.116832771G>T | CA382711102 | APOC3 | c.187G>T (p.Val63Leu) c.241G>T (p.Val81Leu) | gnomAD v4 |
11 | g.116832772T>A | CA382711105 | APOC3 | c.188T>A (p.Val63Glu) c.242T>A (p.Val81Glu) | |
11 | g.116832772T>C | CA382711106 | APOC3 | c.188T>C (p.Val63Ala) c.242T>C (p.Val81Ala) | |
11 | g.116832772T>G | CA382711108 | APOC3 | c.188T>G (p.Val63Gly) c.242T>G (p.Val81Gly) | |
11 | g.116832773G>A | CA476868920 | APOC3 | c.189G>A (p.Val63=) c.243G>A (p.Val81=) | |
11 | g.116832773G>C | CA476868921 | APOC3 | c.189G>C (p.Val63=) c.243G>C (p.Val81=) | |
11 | g.116832773G>T | CA476868922 | APOC3 | c.189G>T (p.Val63=) c.243G>T (p.Val81=) | gnomAD v4 |
11 | g.116832774A>C | CA382711110 | APOC3 | c.190A>C (p.Thr64Pro) c.244A>C (p.Thr82Pro) | |
11 | g.116832774A>G | CA382711115 | APOC3 | c.190A>G (p.Thr64Ala) c.244A>G (p.Thr82Ala) | |
11 | g.116832774A>T | CA382711112 | APOC3 | c.190A>T (p.Thr64Ser) c.244A>T (p.Thr82Ser) | |
11 | g.116832775C>A | CA382711117 | APOC3 | c.191C>A (p.Thr64Asn) c.245C>A (p.Thr82Asn) | |
11 | g.116832775C>G | CA382711119 | APOC3 | c.191C>G (p.Thr64Ser) c.245C>G (p.Thr82Ser) | |
11 | g.116832775C>T | CA382711120 | APOC3 | c.191C>T (p.Thr64Ile) c.245C>T (p.Thr82Ile) | |
11 | g.116832776C>A | CA476868923 | APOC3 | c.192C>A (p.Thr64=) c.246C>A (p.Thr82=) | |
11 | g.116832776C= | CA2002760273 | APOC3 | c.192C= (p.Thr64=) c.246C= (p.Thr82=) | |
11 | g.116832776C>G | CA476868924 | APOC3 | c.192C>G (p.Thr64=) c.246C>G (p.Thr82=) | |
11 | g.116832776C>T | CA476868925 | APOC3 | c.192C>T (p.Thr64=) c.246C>T (p.Thr82=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832777G>A | CA6289685 | APOC3 | c.193G>A (p.Asp65Asn) c.247G>A (p.Asp83Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116832777G>C | CA382711121 | APOC3 | c.193G>C (p.Asp65His) c.247G>C (p.Asp83His) | |
11 | g.116832777G= | CA2002760274 | APOC3 | c.193G= (p.Asp65=) c.247G= (p.Asp83=) | |
11 | g.116832777G>T | CA382711122 | APOC3 | c.193G>T (p.Asp65Tyr) c.247G>T (p.Asp83Tyr) | |
11 | g.116832778A>C | CA382711123 | APOC3 | c.194A>C (p.Asp65Ala) c.248A>C (p.Asp83Ala) | |
11 | g.116832778A>G | CA382711124 | APOC3 | c.194A>G (p.Asp65Gly) c.248A>G (p.Asp83Gly) | |
11 | g.116832778A>T | CA382711126 | APOC3 | c.194A>T (p.Asp65Val) c.248A>T (p.Asp83Val) | |
11 | g.116832779T>A | CA382711129 | APOC3 | c.195T>A (p.Asp65Glu) c.249T>A (p.Asp83Glu) | |
11 | g.116832779T>C | CA229320860 | APOC3 | c.195T>C (p.Asp65=) c.249T>C (p.Asp83=) | dbSNP |
11 | g.116832779T>G | CA382711131 | APOC3 | c.195T>G (p.Asp65Glu) c.249T>G (p.Asp83Glu) | |
11 | g.116832779T= | CA2002760275 | APOC3 | c.195T= (p.Asp65=) c.249T= (p.Asp83=) | |
11 | g.116832780G>A | CA382711133 | APOC3 | c.196G>A (p.Gly66Ser) c.250G>A (p.Gly84Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832780G>C | CA382711135 | APOC3 | c.196G>C (p.Gly66Arg) c.250G>C (p.Gly84Arg) | |
11 | g.116832780G= | CA2002760276 | APOC3 | c.196G= (p.Gly66=) c.250G= (p.Gly84=) | |
11 | g.116832780G>T | CA382711134 | APOC3 | c.196G>T (p.Gly66Cys) c.250G>T (p.Gly84Cys) | |
11 | g.116832781G>A | CA382711137 | APOC3 | c.197G>A (p.Gly66Asp) c.251G>A (p.Gly84Asp) | |
11 | g.116832781G>C | CA382711140 | APOC3 | c.197G>C (p.Gly66Ala) c.251G>C (p.Gly84Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832781G= | CA2002760277 | APOC3 | c.197G= (p.Gly66=) c.251G= (p.Gly84=) | |
11 | g.116832781G>T | CA382711143 | APOC3 | c.197G>T (p.Gly66Val) c.251G>T (p.Gly84Val) | |
11 | g.116832782C>A | CA476868926 | APOC3 | c.198C>A (p.Gly66=) c.252C>A (p.Gly84=) | |
11 | g.116832782C>G | CA476868927 | APOC3 | c.198C>G (p.Gly66=) c.252C>G (p.Gly84=) | |
11 | g.116832782C>T | CA476868928 | APOC3 | c.198C>T (p.Gly66=) c.252C>T (p.Gly84=) | |
11 | g.116832783T>A | CA382711146 | APOC3 | c.199T>A (p.Phe67Ile) c.253T>A (p.Phe85Ile) | |
11 | g.116832783T>C | CA382711155 | APOC3 | c.199T>C (p.Phe67Leu) c.253T>C (p.Phe85Leu) | |
11 | g.116832783T>G | CA382711156 | APOC3 | c.199T>G (p.Phe67Val) c.253T>G (p.Phe85Val) | |
11 | g.116832784T>A | CA382711163 | APOC3 | c.200T>A (p.Phe67Tyr) c.254T>A (p.Phe85Tyr) | |
11 | g.116832784T>C | CA382711158 | APOC3 | c.200T>C (p.Phe67Ser) c.254T>C (p.Phe85Ser) | |
11 | g.116832784T>G | CA382711160 | APOC3 | c.200T>G (p.Phe67Cys) c.254T>G (p.Phe85Cys) | |
11 | g.116832785C>A | CA382711164 | APOC3 | c.201C>A (p.Phe67Leu) c.255C>A (p.Phe85Leu) | |
11 | g.116832785C>G | CA382711165 | APOC3 | c.201C>G (p.Phe67Leu) c.255C>G (p.Phe85Leu) | |
11 | g.116832785C>T | CA476868929 | APOC3 | c.201C>T (p.Phe67=) c.255C>T (p.Phe85=) | |
11 | g.116832786A>C | CA382711167 | APOC3 | c.202A>C (p.Ser68Arg) c.256A>C (p.Ser86Arg) | gnomAD v4 |
11 | g.116832786A>G | CA382711174 | APOC3 | c.202A>G (p.Ser68Gly) c.256A>G (p.Ser86Gly) | |
11 | g.116832786A>T | CA382711175 | APOC3 | c.202A>T (p.Ser68Cys) c.256A>T (p.Ser86Cys) | |
11 | g.116832787G>A | CA382711176 | APOC3 | c.203G>A (p.Ser68Asn) c.257G>A (p.Ser86Asn) | gnomAD v4 |
11 | g.116832787G>C | CA382711178 | APOC3 | c.203G>C (p.Ser68Thr) c.257G>C (p.Ser86Thr) | |
11 | g.116832787G>T | CA382711177 | APOC3 | c.203G>T (p.Ser68Ile) c.257G>T (p.Ser86Ile) | |
11 | g.116832788T>A | CA382711181 | APOC3 | c.204T>A (p.Ser68Arg) c.258T>A (p.Ser86Arg) | |
11 | g.116832788T>C | CA476868930 | APOC3 | c.204T>C (p.Ser68=) c.258T>C (p.Ser86=) | |
11 | g.116832788T>G | CA382711183 | APOC3 | c.204T>G (p.Ser68Arg) c.258T>G (p.Ser86Arg) | |
11 | g.116832789T>A | CA382711185 | APOC3 | c.205T>A (p.Ser69Thr) c.259T>A (p.Ser87Thr) | |
11 | g.116832789T>C | CA382711190 | APOC3 | c.205T>C (p.Ser69Pro) c.259T>C (p.Ser87Pro) | |
11 | g.116832789T>G | CA382711192 | APOC3 | c.205T>G (p.Ser69Ala) c.259T>G (p.Ser87Ala) | |
11 | g.116832790C>A | CA382711194 | APOC3 | c.206C>A (p.Ser69Tyr) c.260C>A (p.Ser87Tyr) | |
11 | g.116832790C= | CA2002760278 | APOC3 | c.206C= (p.Ser69=) c.260C= (p.Ser87=) | |
11 | g.116832790C>G | CA382711196 | APOC3 | c.206C>G (p.Ser69Cys) c.260C>G (p.Ser87Cys) | gnomAD v4 |
11 | g.116832790C>T | CA6289686 | APOC3 | c.206C>T (p.Ser69Phe) c.260C>T (p.Ser87Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116832791C>A | CA476868933 | APOC3 | c.207C>A (p.Ser69=) c.261C>A (p.Ser87=) | |
11 | g.116832791C>G | CA476868931 | APOC3 | c.207C>G (p.Ser69=) c.261C>G (p.Ser87=) | |
11 | g.116832791C>T | CA476868932 | APOC3 | c.207C>T (p.Ser69=) c.261C>T (p.Ser87=) | |
11 | g.116832792C>A | CA382711198 | APOC3 | c.208C>A (p.Leu70Met) c.262C>A (p.Leu88Met) | |
11 | g.116832792C>G | CA382711199 | APOC3 | c.208C>G (p.Leu70Val) c.262C>G (p.Leu88Val) | |
11 | g.116832792C>T | CA476868934 | APOC3 | c.208C>T (p.Leu70=) c.262C>T (p.Leu88=) | |
11 | g.116832793T>A | CA382711200 | APOC3 | c.209T>A (p.Leu70Gln) c.263T>A (p.Leu88Gln) | |
11 | g.116832793T>C | CA382711203 | APOC3 | c.209T>C (p.Leu70Pro) c.263T>C (p.Leu88Pro) | dbSNP gnomAD v4 |
11 | g.116832793T>G | CA382711202 | APOC3 | c.209T>G (p.Leu70Arg) c.263T>G (p.Leu88Arg) | |
11 | g.116832793T= | CA2002760279 | APOC3 | c.209T= (p.Leu70=) c.263T= (p.Leu88=) | |
11 | g.116832794G>A | CA476868935 | APOC3 | c.210G>A (p.Leu70=) c.264G>A (p.Leu88=) | COSMIC |
11 | g.116832794G>C | CA476868936 | APOC3 | c.210G>C (p.Leu70=) c.264G>C (p.Leu88=) | |
11 | g.116832794G>T | CA476868937 | APOC3 | c.210G>T (p.Leu70=) c.264G>T (p.Leu88=) | |
11 | g.116832795A= | CA2002760280 | APOC3 | c.211A= (p.Lys71=) c.265A= (p.Lys89=) | |
11 | g.116832795A>C | CA382711204 | APOC3 | c.211A>C (p.Lys71Gln) c.265A>C (p.Lys89Gln) | |
11 | g.116832795A>G | CA382711206 | APOC3 | c.211A>G (p.Lys71Glu) c.265A>G (p.Lys89Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832795A>T | CA382711205 | APOC3 | c.211A>T (p.Lys71Ter) c.265A>T (p.Lys89Ter) | |
11 | g.116832796A= | CA2002760281 | APOC3 | c.212A= (p.Lys71=) c.266A= (p.Lys89=) | |
11 | g.116832796A>C | CA382711207 | APOC3 | c.212A>C (p.Lys71Thr) c.266A>C (p.Lys89Thr) | |
11 | g.116832796A>G | CA382711213 | APOC3 | c.212A>G (p.Lys71Arg) c.266A>G (p.Lys89Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116832796A>T | CA382711208 | APOC3 | c.212A>T (p.Lys71Ile) c.266A>T (p.Lys89Ile) | |
11 | g.116832797A>C | CA382711215 | APOC3 | c.213A>C (p.Lys71Asn) c.267A>C (p.Lys89Asn) | COSMIC |
11 | g.116832797A>G | CA476868938 | APOC3 | c.213A>G (p.Lys71=) c.267A>G (p.Lys89=) | |
11 | g.116832797A>T | CA382711216 | APOC3 | c.213A>T (p.Lys71Asn) c.267A>T (p.Lys89Asn) | |
11 | g.116832798G>A | CA382711217 | APOC3 | c.214G>A (p.Asp72Asn) c.268G>A (p.Asp90Asn) | |
11 | g.116832798G>C | CA382711218 | APOC3 | c.214G>C (p.Asp72His) c.268G>C (p.Asp90His) | |
11 | g.116832798G>T | CA382711219 | APOC3 | c.214G>T (p.Asp72Tyr) c.268G>T (p.Asp90Tyr) | |
11 | g.116832799A>C | CA382711222 | APOC3 | c.215A>C (p.Asp72Ala) c.269A>C (p.Asp90Ala) | gnomAD v4 |
11 | g.116832799A>G | CA382711224 | APOC3 | c.215A>G (p.Asp72Gly) c.269A>G (p.Asp90Gly) | gnomAD v4 |
11 | g.116832799A>T | CA382711225 | APOC3 | c.215A>T (p.Asp72Val) c.269A>T (p.Asp90Val) | |
11 | g.116832799_116832800delinsAC | CA2002760282 | APOC3 | c.215_216delinsAC (p.Asp72=) c.269_270delinsAC (p.Asp90=) | |
11 | g.116832800del | CA6289687 | APOC3 | c.216del (p.Tyr73ThrfsTer?) c.270del (p.Tyr91ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116832800C>A | CA382711227 | APOC3 | c.216C>A (p.Asp72Glu) c.270C>A (p.Asp90Glu) | |
11 | g.116832800C>G | CA382711228 | APOC3 | c.216C>G (p.Asp72Glu) c.270C>G (p.Asp90Glu) | gnomAD v4 |
11 | g.116832800C>T | CA476868939 | APOC3 | c.216C>T (p.Asp72=) c.270C>T (p.Asp90=) | gnomAD v4 |
11 | g.116832801T>A | CA382711233 | APOC3 | c.217T>A (p.Tyr73Asn) c.271T>A (p.Tyr91Asn) | |
11 | g.116832801T>C | CA382711231 | APOC3 | c.217T>C (p.Tyr73His) c.271T>C (p.Tyr91His) | |
11 | g.116832801T>G | CA6289688 | APOC3 | c.217T>G (p.Tyr73Asp) c.271T>G (p.Tyr91Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116832801T= | CA2002760283 | APOC3 | c.217T= (p.Tyr73=) c.271T= (p.Tyr91=) | |
11 | g.116832802A>C | CA382711236 | APOC3 | c.218A>C (p.Tyr73Ser) c.272A>C (p.Tyr91Ser) | |
11 | g.116832802A>G | CA382711237 | APOC3 | c.218A>G (p.Tyr73Cys) c.272A>G (p.Tyr91Cys) | |
11 | g.116832802A>T | CA382711238 | APOC3 | c.218A>T (p.Tyr73Phe) c.272A>T (p.Tyr91Phe) | |
11 | g.116832803C>A | CA382711241 | APOC3 | c.219C>A (p.Tyr73Ter) c.273C>A (p.Tyr91Ter) | |
11 | g.116832803C>G | CA382711242 | APOC3 | c.219C>G (p.Tyr73Ter) c.273C>G (p.Tyr91Ter) | |
11 | g.116832803C>T | CA476868940 | APOC3 | c.219C>T (p.Tyr73=) c.273C>T (p.Tyr91=) | |
11 | g.116832804T>A | CA382711244 | APOC3 | c.220T>A (p.Trp74Arg) c.274T>A (p.Trp92Arg) | |
11 | g.116832804T>C | CA382711247 | APOC3 | c.220T>C (p.Trp74Arg) c.274T>C (p.Trp92Arg) | |
11 | g.116832804T>G | CA382711248 | APOC3 | c.220T>G (p.Trp74Gly) c.274T>G (p.Trp92Gly) | |
11 | g.116832805G>A | CA382711249 | APOC3 | c.221G>A (p.Trp74Ter) c.275G>A (p.Trp92Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116832805G>C | CA382711250 | APOC3 | c.221G>C (p.Trp74Ser) c.275G>C (p.Trp92Ser) | |
11 | g.116832805G= | CA2002760284 | APOC3 | c.221G= (p.Trp74=) c.275G= (p.Trp92=) | |
11 | g.116832805G>T | CA382711252 | APOC3 | c.221G>T (p.Trp74Leu) c.275G>T (p.Trp92Leu) |