| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24081156A>C | CA2624297337 | NRL | c.*80T>G (n.*80T>G) | gnomAD v4 |
| 14 | g.24081156A>T | CA2624297338 | NRL | c.*80T>A (n.*80T>A) | gnomAD v4 |
| 14 | g.24081157T>A | CA2123776990 | NRL | c.*79A>T (n.*79A>T) | dbSNP gnomAD v4 |
| 14 | g.24081157T>C | CA257867963 | NRL | c.*79A>G (n.*79A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081157T>G | CA2575490413 | NRL | c.*79A>C (n.*79A>C) | gnomAD v4 |
| 14 | g.24081157T= | CA2123776988 | NRL | c.*79A= (n.*79A=) | |
| 14 | g.24081158G>A | CA2624297339 | NRL | c.*78C>T (n.*78C>T) | gnomAD v4 |
| 14 | g.24081158G= | CA2123776992 | NRL | c.*78C= (n.*78C=) | |
| 14 | g.24081158G>T | CA704330091 | NRL | c.*78C>A (n.*78C>A) | dbSNP gnomAD v4 |
| 14 | g.24081159C>A | CA2624297340 | NRL | c.*77G>T (n.*77G>T) | gnomAD v4 |
| 14 | g.24081159C>T | CA2575490414 | NRL | c.*77G>A (n.*77G>A) | gnomAD v4 |
| 14 | g.24081160A>C | CA2624297341 | NRL | c.*76T>G (n.*76T>G) | gnomAD v4 |
| 14 | g.24081160A>G | CA2624297342 | NRL | c.*76T>C (n.*76T>C) | gnomAD v4 |
| 14 | g.24081160A>T | CA2624297343 | NRL | c.*76T>A (n.*76T>A) | gnomAD v4 |
| 14 | g.24081161G>A | CA2624297344 | NRL | c.*75C>T (n.*75C>T) | gnomAD v4 |
| 14 | g.24081161G>C | CA2624297345 | NRL | c.*75C>G (n.*75C>G) | gnomAD v4 |
| 14 | g.24081161G>T | CA2624297346 | NRL | c.*75C>A (n.*75C>A) | gnomAD v4 |
| 14 | g.24081162A= | CA2123776997 | NRL | c.*74T= (n.*74T=) | |
| 14 | g.24081162A>C | CA257867965 | NRL | c.*74T>G (n.*74T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081162A>G | CA2624297347 | NRL | c.*74T>C (n.*74T>C) | gnomAD v4 |
| 14 | g.24081162A>T | CA2624297349 | NRL | c.*74T>A (n.*74T>A) | gnomAD v4 |
| 14 | g.24081163G>A | CA2123777000 | NRL | c.*73C>T (n.*73C>T) | dbSNP gnomAD v4 |
| 14 | g.24081163G= | CA2123776999 | NRL | c.*73C= (n.*73C=) | |
| 14 | g.24081163G>T | CA2624297350 | NRL | c.*73C>A (n.*73C>A) | gnomAD v4 |
| 14 | g.24081165A= | CA2123777002 | NRL | c.*71T= (n.*71T=) | |
| 14 | g.24081165A>C | CA2123777003 | NRL | c.*71T>G (n.*71T>G) | dbSNP |
| 14 | g.24081165A>G | CA2624297351 | NRL | c.*71T>C (n.*71T>C) | gnomAD v4 |
| 14 | g.24081166C>A | CA2624297353 | NRL | c.*70G>T (n.*70G>T) | gnomAD v4 |
| 14 | g.24081166C= | CA2123777005 | NRL | c.*70G= (n.*70G=) | |
| 14 | g.24081166C>G | CA2575490415 | NRL | c.*70G>C (n.*70G>C) | |
| 14 | g.24081166C>T | CA704330095 | NRL | c.*70G>A (n.*70G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081167del | CA2624297352 | NRL | c.*70del (n.*70del) | gnomAD v4 |
| 14 | g.24081167C>A | CA2624297355 | NRL | c.*69G>T (n.*69G>T) | gnomAD v4 |
| 14 | g.24081167C= | CA2123777007 | NRL | c.*69G= (n.*69G=) | |
| 14 | g.24081167C>T | CA257867966 | NRL | c.*69G>A (n.*69G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081168G>A | CA257867968 | NRL | c.*68C>T (n.*68C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081168G>C | CA257867969 | NRL | c.*68C>G (n.*68C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081168G= | CA2123777011 | NRL | c.*68C= (n.*68C=) | |
| 14 | g.24081168G>T | CA257867967 | NRL | c.*68C>A (n.*68C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081169T>C | CA2624297356 | NRL | c.*67A>G (n.*67A>G) | gnomAD v4 |
| 14 | g.24081170G>A | CA2624297357 | NRL | c.*66C>T (n.*66C>T) | gnomAD v4 |
| 14 | g.24081170G>T | CA2624297358 | NRL | c.*66C>A (n.*66C>A) | gnomAD v4 |
| 14 | g.24081171C>A | CA2624297359 | NRL | c.*65G>T (n.*65G>T) | gnomAD v4 |
| 14 | g.24081171C>G | CA2624297360 | NRL | c.*65G>C (n.*65G>C) | gnomAD v4 |
| 14 | g.24081171C>T | CA2575490416 | NRL | c.*65G>A (n.*65G>A) | gnomAD v4 |
| 14 | g.24081172A>G | CA2624297361 | NRL | c.*64T>C (n.*64T>C) | gnomAD v4 |
| 14 | g.24081173G>A | CA2624297363 | NRL | c.*63C>T (n.*63C>T) | gnomAD v4 |
| 14 | g.24081173G>T | CA2624297362 | NRL | c.*63C>A (n.*63C>A) | gnomAD v4 |
| 14 | g.24081174C>A | CA2624297364 | NRL | c.*62G>T (n.*62G>T) | gnomAD v4 |
| 14 | g.24081174C>T | CA2575490417 | NRL | c.*62G>A (n.*62G>A) | gnomAD v4 |
| 14 | g.24081175C>A | CA2624297365 | NRL | c.*61G>T (n.*61G>T) | gnomAD v4 |
| 14 | g.24081175C= | CA2123777014 | NRL | c.*61G= (n.*61G=) | |
| 14 | g.24081175C>T | CA2123777015 | NRL | c.*61G>A (n.*61G>A) | dbSNP gnomAD v4 |
| 14 | g.24081176G>A | CA704330103 | NRL | c.*60C>T (n.*60C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081176G= | CA2123777017 | NRL | c.*60C= (n.*60C=) | |
| 14 | g.24081176G>T | CA2624297366 | NRL | c.*60C>A (n.*60C>A) | gnomAD v4 |
| 14 | g.24081177C>T | CA2624297367 | NRL | c.*59G>A (n.*59G>A) | gnomAD v4 |
| 14 | g.24081178C>A | CA2624297368 | NRL | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 14 | g.24081178C>T | CA2624297369 | NRL | c.*58G>A (n.*58G>A) | gnomAD v4 |
| 14 | g.24081179del | CA2624297370 | NRL | c.*57del (n.*57del) | gnomAD v4 |
| 14 | g.24081179T>C | CA2624297371 | NRL | c.*57A>G (n.*57A>G) | gnomAD v4 |
| 14 | g.24081179T>G | CA2624297372 | NRL | c.*57A>C (n.*57A>C) | gnomAD v4 |
| 14 | g.24081180C>A | CA2624297374 | NRL | c.*56G>T (n.*56G>T) | gnomAD v4 |
| 14 | g.24081180C= | CA2123777020 | NRL | c.*56G= (n.*56G=) | |
| 14 | g.24081180C>G | CA2624297373 | NRL | c.*56G>C (n.*56G>C) | gnomAD v4 |
| 14 | g.24081180C>T | CA10644028 | NRL | c.*56G>A (n.*56G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081181C>A | CA2624297375 | NRL | c.*55G>T (n.*55G>T) | gnomAD v4 |
| 14 | g.24081181C= | CA2123777022 | NRL | c.*55G= (n.*55G=) | |
| 14 | g.24081181C>T | CA961115893 | NRL | c.*55G>A (n.*55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081181_24081182dup | CA2575490418 | NRL | c.*54_*55dup (n.*54_*55dup) | |
| 14 | g.24081182T>A | CA2624297376 | NRL | c.*54A>T (n.*54A>T) | gnomAD v4 |
| 14 | g.24081182T>C | CA257867978 | NRL | c.*54A>G (n.*54A>G) | dbSNP gnomAD v4 |
| 14 | g.24081182T>G | CA2575490419 | NRL | c.*54A>C (n.*54A>C) | gnomAD v4 |
| 14 | g.24081182T= | CA2123777025 | NRL | c.*54A= (n.*54A=) | |
| 14 | g.24081182_24081183delinsTG | CA2123777027 | NRL | c.*53_*54delinsCA (n.*53_*54delinsCA) | |
| 14 | g.24081183G>A | CA2624297377 | NRL | c.*53C>T (n.*53C>T) | gnomAD v4 |
| 14 | g.24081183G>C | CA613319067 | NRL | c.*53C>G (n.*53C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081183G= | CA2123777035 | NRL | c.*53C= (n.*53C=) | |
| 14 | g.24081183G>T | CA257867990 | NRL | c.*53C>A (n.*53C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081185del | CA2123777034 | NRL | c.*53del (n.*53del) | dbSNP gnomAD v4 |
| 14 | g.24081183_24081186delinsGGGC | CA2123777032 | NRL | c.*50_*53delinsGCCC (n.*50_*53delinsGCCC) | |
| 14 | g.24081184G>A | CA961115925 | NRL | c.*52C>T (n.*52C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081184G= | CA2123777038 | NRL | c.*52C= (n.*52C=) | |
| 14 | g.24081184G>T | CA2575490420 | NRL | c.*52C>A (n.*52C>A) | gnomAD v4 |
| 14 | g.24081186_24081188del | CA961115905 | NRL | c.*50_*52del (n.*50_*52del) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081185G>A | CA2624297378 | NRL | c.*51C>T (n.*51C>T) | gnomAD v4 |
| 14 | g.24081185G>C | CA2624297379 | NRL | c.*51C>G (n.*51C>G) | gnomAD v4 |
| 14 | g.24081185G>T | CA2624297380 | NRL | c.*51C>A (n.*51C>A) | gnomAD v4 |
| 14 | g.24081186del | CA2624297382 | NRL | c.*50del (n.*50del) | gnomAD v4 |
| 14 | g.24081186C>A | CA7122803 | NRL | c.*50G>T (n.*50G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081186C= | CA2123777039 | NRL | c.*50G= (n.*50G=) | |
| 14 | g.24081186C>T | CA2624297381 | NRL | c.*50G>A (n.*50G>A) | gnomAD v4 |
| 14 | g.24081187G>A | CA613319068 | NRL | c.*49C>T (n.*49C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081187G>C | CA704330111 | NRL | c.*49C>G (n.*49C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081187G= | CA2123777041 | NRL | c.*49C= (n.*49C=) | |
| 14 | g.24081187G>T | CA2624297384 | NRL | c.*49C>A (n.*49C>A) | gnomAD v4 |
| 14 | g.24081188G>A | CA257867995 | NRL | c.*48C>T (n.*48C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081188G>C | CA257867997 | NRL | c.*48C>G (n.*48C>G) | dbSNP |
| 14 | g.24081188G= | CA2123777044 | NRL | c.*48C= (n.*48C=) | |
| 14 | g.24081188G>T | CA2624297385 | NRL | c.*48C>A (n.*48C>A) | gnomAD v4 |
| 14 | g.24081189A>C | CA2624297386 | NRL | c.*47T>G (n.*47T>G) | gnomAD v4 |
| 14 | g.24081189A>G | CA2624297387 | NRL | c.*47T>C (n.*47T>C) | gnomAD v4 |
| 14 | g.24081189A>T | CA2729091190 | NRL | c.*47T>A (n.*47T>A) | dbSNP |
| 14 | g.24081190G>A | CA2624297388 | NRL | c.*46C>T (n.*46C>T) | gnomAD v4 |
| 14 | g.24081190G>T | CA2624297389 | NRL | c.*46C>A (n.*46C>A) | gnomAD v4 |
| 14 | g.24081191C>A | CA2624297390 | NRL | c.*45G>T (n.*45G>T) | gnomAD v4 |
| 14 | g.24081191C>G | CA2624297391 | NRL | c.*45G>C (n.*45G>C) | gnomAD v4 |
| 14 | g.24081191C>T | CA2624297392 | NRL | c.*45G>A (n.*45G>A) | gnomAD v4 |
| 14 | g.24081192C>A | CA2624297393 | NRL | c.*44G>T (n.*44G>T) | gnomAD v4 |
| 14 | g.24081192C>T | CA2624297394 | NRL | c.*44G>A (n.*44G>A) | gnomAD v4 |
| 14 | g.24081192_24081193insGCTAAAATGGGGAGGTT | CA2800892046 | NRL | c.*43_*44insAACCTCCCCATTTTAGC (n.*43_*44insAACCTCCCCATTTTAGC) | |
| 14 | g.24081193A= | CA2123777046 | NRL | c.*43T= (n.*43T=) | |
| 14 | g.24081193A>C | CA2123777045 | NRL | c.*43T>G (n.*43T>G) | dbSNP gnomAD v4 |
| 14 | g.24081193A>G | CA2624297395 | NRL | c.*43T>C (n.*43T>C) | gnomAD v4 |
| 14 | g.24081194C>A | CA613319069 | NRL | c.*42G>T (n.*42G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081194C= | CA2123777047 | NRL | c.*42G= (n.*42G=) | |
| 14 | g.24081194C>T | CA2624297398 | NRL | c.*42G>A (n.*42G>A) | gnomAD v4 |
| 14 | g.24081197dup | CA2624297396 | NRL | c.*42dup (n.*42dup) | gnomAD v4 |
| 14 | g.24081197del | CA2624297397 | NRL | c.*42del (n.*42del) | gnomAD v4 |
| 14 | g.24081196_24081197del | CA2800892047 | NRL | c.*41_*42del (n.*41_*42del) | |
| 14 | g.24081195C>A | CA613319070 | NRL | c.*41G>T (n.*41G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081195C= | CA2123777050 | NRL | c.*41G= (n.*41G=) | |
| 14 | g.24081195C>T | CA961115936 | NRL | c.*41G>A (n.*41G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081196C>A | CA613319071 | NRL | c.*40G>T (n.*40G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081196C= | CA2123777053 | NRL | c.*40G= (n.*40G=) | |
| 14 | g.24081196C>T | CA2624297399 | NRL | c.*40G>A (n.*40G>A) | gnomAD v4 |
| 14 | g.24081197C>A | CA2624297400 | NRL | c.*39G>T (n.*39G>T) | gnomAD v4 |
| 14 | g.24081197C>T | CA2624297401 | NRL | c.*39G>A (n.*39G>A) | gnomAD v4 |
| 14 | g.24081198A= | CA2123777064 | NRL | c.*38T= (n.*38T=) | |
| 14 | g.24081198A>C | CA704330127 | NRL | c.*38T>G (n.*38T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081198A>G | CA2624297402 | NRL | c.*38T>C (n.*38T>C) | gnomAD v4 |
| 14 | g.24081199C>A | CA2624297404 | NRL | c.*37G>T (n.*37G>T) | gnomAD v4 |
| 14 | g.24081199C>G | CA2624297406 | NRL | c.*37G>C (n.*37G>C) | gnomAD v4 |
| 14 | g.24081199C>T | CA2624297405 | NRL | c.*37G>A (n.*37G>A) | gnomAD v4 |
| 14 | g.24081201del | CA2624297407 | NRL | c.*37del (n.*37del) | gnomAD v4 |
| 14 | g.24081200C>A | CA2624297409 | NRL | c.*36G>T (n.*36G>T) | gnomAD v4 |
| 14 | g.24081200C>T | CA2624297408 | NRL | c.*36G>A (n.*36G>A) | gnomAD v4 |
| 14 | g.24081200_24081201insTTCAGAATGAAAATA | CA2800892048 | NRL | c.*35_*36insTATTTTCATTCTGAA (n.*35_*36insTATTTTCATTCTGAA) | |
| 14 | g.24081201C>A | CA613319072 | NRL | c.*35G>T (n.*35G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081201C= | CA2123777070 | NRL | c.*35G= (n.*35G=) | |
| 14 | g.24081201C>G | CA2624297411 | NRL | c.*35G>C (n.*35G>C) | gnomAD v4 |
| 14 | g.24081201C>T | CA2624297412 | NRL | c.*35G>A (n.*35G>A) | gnomAD v4 |
| 14 | g.24081202A>C | CA2624297413 | NRL | c.*34T>G (n.*34T>G) | gnomAD v4 |
| 14 | g.24081202A>G | CA2624297414 | NRL | c.*34T>C (n.*34T>C) | gnomAD v4 |
| 14 | g.24081203G>A | CA2624297415 | NRL | c.*33C>T (n.*33C>T) | gnomAD v4 |
| 14 | g.24081203G>T | CA2624297416 | NRL | c.*33C>A (n.*33C>A) | gnomAD v4 |
| 14 | g.24081204C>A | CA2624297417 | NRL | c.*32G>T (n.*32G>T) | gnomAD v4 |
| 14 | g.24081204C= | CA2123777073 | NRL | c.*32G= (n.*32G=) | |
| 14 | g.24081204C>T | CA613319073 | NRL | c.*32G>A (n.*32G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081208dup | CA2624297419 | NRL | c.*32dup (n.*32dup) | gnomAD v4 |
| 14 | g.24081208del | CA2624297418 | NRL | c.*32del (n.*32del) | gnomAD v4 |
| 14 | g.24081205C>A | CA2624297420 | NRL | c.*31G>T (n.*31G>T) | gnomAD v4 |
| 14 | g.24081205C>T | CA2624297421 | NRL | c.*31G>A (n.*31G>A) | gnomAD v4 |
| 14 | g.24081206C>A | CA2624297422 | NRL | c.*30G>T (n.*30G>T) | gnomAD v4 |
| 14 | g.24081206C>T | CA2624297423 | NRL | c.*30G>A (n.*30G>A) | gnomAD v4 |
| 14 | g.24081207_24081210del | CA2534235522 | NRL | c.*27_*30del (n.*27_*30del) | |
| 14 | g.24081207C>A | CA2123777078 | NRL | c.*29G>T (n.*29G>T) | dbSNP gnomAD v4 |
| 14 | g.24081207C= | CA2123777076 | NRL | c.*29G= (n.*29G=) | |
| 14 | g.24081207C>T | CA2624297424 | NRL | c.*29G>A (n.*29G>A) | gnomAD v4 |
| 14 | g.24081207_24081208insATTG | CA2800892049 | NRL | c.*28_*29insCAAT (n.*28_*29insCAAT) | |
| 14 | g.24081208C>A | CA2624297431 | NRL | c.*28G>T (n.*28G>T) | gnomAD v4 |
| 14 | g.24081208C= | CA2123777081 | NRL | c.*28G= (n.*28G=) | |
| 14 | g.24081208C>G | CA2624297426 | NRL | c.*28G>C (n.*28G>C) | gnomAD v4 |
| 14 | g.24081208C>T | CA7122804 | NRL | c.*28G>A (n.*28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081208_24081209insTA | CA2800892050 | NRL | c.*27_*28insTA (n.*27_*28insTA) | |
| 14 | g.24081209del | CA2624297432 | NRL | c.*27del (n.*27del) | gnomAD v4 |
| 14 | g.24081209A= | CA2123777083 | NRL | c.*27T= (n.*27T=) | |
| 14 | g.24081209A>G | CA7122805 | NRL | c.*27T>C (n.*27T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081210C>A | CA2624297435 | NRL | c.*26G>T (n.*26G>T) | gnomAD v4 |
| 14 | g.24081210C>G | CA2624297436 | NRL | c.*26G>C (n.*26G>C) | gnomAD v4 |
| 14 | g.24081210C>T | CA2624297437 | NRL | c.*26G>A (n.*26G>A) | gnomAD v4 |
| 14 | g.24081211T>C | CA2624297438 | NRL | c.*25A>G (n.*25A>G) | gnomAD v4 |
| 14 | g.24081212A>G | CA2624297440 | NRL | c.*24T>C (n.*24T>C) | gnomAD v4 |
| 14 | g.24081213C>A | CA2624297442 | NRL | c.*23G>T (n.*23G>T) | gnomAD v4 |
| 14 | g.24081213C= | CA2123777087 | NRL | c.*23G= (n.*23G=) | |
| 14 | g.24081213C>G | CA2624297443 | NRL | c.*23G>C (n.*23G>C) | gnomAD v4 |
| 14 | g.24081213C>T | CA704330141 | NRL | c.*23G>A (n.*23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081214A>C | CA2624297445 | NRL | c.*22T>G (n.*22T>G) | gnomAD v4 |
| 14 | g.24081214A>G | CA2624297448 | NRL | c.*22T>C (n.*22T>C) | gnomAD v4 |
| 14 | g.24081215C>A | CA961115944 | NRL | c.*21G>T (n.*21G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081215C= | CA2123777090 | NRL | c.*21G= (n.*21G=) | |
| 14 | g.24081215C>G | CA2624297454 | NRL | c.*21G>C (n.*21G>C) | gnomAD v4 |
| 14 | g.24081215C>T | CA2624297449 | NRL | c.*21G>A (n.*21G>A) | gnomAD v4 |
| 14 | g.24081216C>A | CA2624297460 | NRL | c.*20G>T (n.*20G>T) | gnomAD v4 |
| 14 | g.24081216C>T | CA655933279 | NRL | c.*20G>A (n.*20G>A) | gnomAD v4 COSMIC |
| 14 | g.24081216_24081217insTTTAATGTGTT | CA2800892051 | NRL | c.*19_*20insAACACATTAAA (n.*19_*20insAACACATTAAA) | |
| 14 | g.24081217A>G | CA2624297461 | NRL | c.*19T>C (n.*19T>C) | gnomAD v4 |
| 14 | g.24081217A>T | CA2624297462 | NRL | c.*19T>A (n.*19T>A) | gnomAD v4 |
| 14 | g.24081218C>A | CA2624297463 | NRL | c.*18G>T (n.*18G>T) | dbSNP gnomAD v4 |
| 14 | g.24081218C= | CA2123777094 | NRL | c.*18G= (n.*18G=) | |
| 14 | g.24081218C>G | CA2624297464 | NRL | c.*18G>C (n.*18G>C) | gnomAD v4 |
| 14 | g.24081218C>T | CA613319074 | NRL | c.*18G>A (n.*18G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081219A>G | CA2624297466 | NRL | c.*17T>C (n.*17T>C) | gnomAD v4 |
| 14 | g.24081220del | CA2624297465 | NRL | c.*17del (n.*17del) | gnomAD v4 |
| 14 | g.24081220A= | CA2123777097 | NRL | c.*16T= (n.*16T=) | |
| 14 | g.24081220A>C | CA2624297468 | NRL | c.*16T>G (n.*16T>G) | gnomAD v4 |
| 14 | g.24081220A>G | CA7122806 | NRL | c.*16T>C (n.*16T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081220A>T | CA2624297469 | NRL | c.*16T>A (n.*16T>A) | gnomAD v4 |
| 14 | g.24081220_24081221delinsAG | CA2123777098 | NRL | c.*15_*16delinsCT (n.*15_*16delinsCT) | |
| 14 | g.24081221G>A | CA613319075 | NRL | c.*15C>T (n.*15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081221G>C | CA2575490421 | NRL | c.*15C>G (n.*15C>G) | |
| 14 | g.24081221G= | CA2123777104 | NRL | c.*15C= (n.*15C=) | |
| 14 | g.24081221G>T | CA2624297472 | NRL | c.*15C>A (n.*15C>A) | gnomAD v4 |
| 14 | g.24081222del | CA704330151 | NRL | c.*15del (n.*15del) | dbSNP |
| 14 | g.24081222G>A | CA7122807 | NRL | c.*14C>T (n.*14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081222G>C | CA2624297479 | NRL | c.*14C>G (n.*14C>G) | gnomAD v4 |
| 14 | g.24081222G= | CA2123777107 | NRL | c.*14C= (n.*14C=) | |
| 14 | g.24081222G>T | CA2624297480 | NRL | c.*14C>A (n.*14C>A) | gnomAD v4 |
| 14 | g.24081223T>C | CA2624297483 | NRL | c.*13A>G (n.*13A>G) | gnomAD v4 |
| 14 | g.24081224G>A | CA2624297484 | NRL | c.*12C>T (n.*12C>T) | gnomAD v4 |
| 14 | g.24081224G>C | CA2624297485 | NRL | c.*12C>G (n.*12C>G) | gnomAD v4 |
| 14 | g.24081224G= | CA2123777110 | NRL | c.*12C= (n.*12C=) | |
| 14 | g.24081224G>T | CA613319076 | NRL | c.*12C>A (n.*12C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081224_24081225insAAAA | CA2800892052 | NRL | c.*11_*12insTTTT (n.*11_*12insTTTT) | |
| 14 | g.24081225C>A | CA2624297486 | NRL | c.*11G>T (n.*11G>T) | gnomAD v4 |
| 14 | g.24081225C>G | CA2624297487 | NRL | c.*11G>C (n.*11G>C) | gnomAD v4 |
| 14 | g.24081225C>T | CA2624297488 | NRL | c.*11G>A (n.*11G>A) | gnomAD v4 |
| 14 | g.24081226T>C | CA2624297491 | NRL | c.*10A>G (n.*10A>G) | gnomAD v4 |
| 14 | g.24081227C>A | CA2624297492 | NRL | c.*9G>T (n.*9G>T) | gnomAD v4 |
| 14 | g.24081227C>T | CA2624297493 | NRL | c.*9G>A (n.*9G>A) | dbSNP gnomAD v4 |
| 14 | g.24081228T>C | CA961115954 | NRL | c.*8A>G (n.*8A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081228T>G | CA2624297497 | NRL | c.*8A>C (n.*8A>C) | dbSNP gnomAD v4 |
| 14 | g.24081228T= | CA2123777112 | NRL | c.*8A= (n.*8A=) | |
| 14 | g.24081229G>A | CA2624297501 | NRL | c.*7C>T (n.*7C>T) | gnomAD v4 |
| 14 | g.24081229G>C | CA961115955 | NRL | c.*7C>G (n.*7C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081229G= | CA2123777114 | NRL | c.*7C= (n.*7C=) | |
| 14 | g.24081229G>T | CA2624297503 | NRL | c.*7C>A (n.*7C>A) | gnomAD v4 |
| 14 | g.24081230A>G | CA2624297504 | NRL | c.*6T>C (n.*6T>C) | gnomAD v4 |
| 14 | g.24081231A>C | CA2800892053 | NRL | c.*5T>G (n.*5T>G) | |
| 14 | g.24081231A>G | CA2624297506 | NRL | c.*5T>C (n.*5T>C) | gnomAD v4 |
| 14 | g.24081231A>T | CA2624297508 | NRL | c.*5T>A (n.*5T>A) | gnomAD v4 |
| 14 | g.24081232C>A | CA2624297509 | NRL | c.*4G>T (n.*4G>T) | dbSNP gnomAD v4 |
| 14 | g.24081232C= | CA2123777118 | NRL | c.*4G= (n.*4G=) | |
| 14 | g.24081232C>G | CA2624297510 | NRL | c.*4G>C (n.*4G>C) | gnomAD v4 |
| 14 | g.24081232C>T | CA257868023 | NRL | c.*4G>A (n.*4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081232_24081235del | CA2800892054 | NRL | c.*1_*4del (n.*1_*4del) | |
| 14 | g.24081233G>A | CA7122808 | NRL | c.*3C>T (n.*3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081233G>C | CA613319077 | NRL | c.*3C>G (n.*3C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081233G= | CA2123777122 | NRL | c.*3C= (n.*3C=) | |
| 14 | g.24081233G>T | CA257868025 | NRL | c.*3C>A (n.*3C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.24081234G>A | CA2624297523 | NRL | c.*2C>T (n.*2C>T) | gnomAD v4 |
| 14 | g.24081234G>C | CA2624297524 | NRL | c.*2C>G (n.*2C>G) | gnomAD v4 |
| 14 | g.24081234G>T | CA2624297525 | NRL | c.*2C>A (n.*2C>A) | gnomAD v4 |
| 14 | g.24081235C>A | CA2624297528 | NRL | c.*1G>T (n.*1G>T) | gnomAD v4 |
| 14 | g.24081235C>G | CA2575490422 | NRL | c.*1G>C (n.*1G>C) | |
| 14 | g.24081235C>T | CA2575490423 | NRL | c.*1G>A (n.*1G>A) | gnomAD v4 |
| 14 | g.24081236T>A | CA389275949 | NRL | c.714A>T (p.Ter238Cys) c.297A>T (p.Ter99Cys) c.813A>T (p.Ter271Cys) c.498A>T (p.Ter166Cys) c.399A>T (p.Ter133Cys) c.1020A>T (p.Ter340Cys) c.705A>T (p.Ter235Cys) | |
| 14 | g.24081236T>C | CA389275951 | NRL | c.714A>G (p.Ter238Trp) c.297A>G (p.Ter99Trp) c.813A>G (p.Ter271Trp) c.498A>G (p.Ter166Trp) c.399A>G (p.Ter133Trp) c.1020A>G (p.Ter340Trp) c.705A>G (p.Ter235Trp) | gnomAD v4 |
| 14 | g.24081236T>G | CA389275953 | NRL | c.714A>C (p.Ter238Cys) c.297A>C (p.Ter99Cys) c.813A>C (p.Ter271Cys) c.498A>C (p.Ter166Cys) c.399A>C (p.Ter133Cys) c.1020A>C (p.Ter340Cys) c.705A>C (p.Ter235Cys) | |
| 14 | g.24081237C>A | CA7122809 | NRL | c.713G>T (p.Ter238Leu) c.296G>T (p.Ter99Leu) c.812G>T (p.Ter271Leu) c.497G>T (p.Ter166Leu) c.398G>T (p.Ter133Leu) c.1019G>T (p.Ter340Leu) c.704G>T (p.Ter235Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081237C= | CA2123777124 | NRL | c.713G= (p.Ter238=) c.296G= (p.Ter99=) c.812G= (p.Ter271=) c.497G= (p.Ter166=) c.398G= (p.Ter133=) c.1019G= (p.Ter340=) c.704G= (p.Ter235=) | |
| 14 | g.24081237C>G | CA389275957 | NRL | c.713G>C (p.Ter238Ser) c.296G>C (p.Ter99Ser) c.812G>C (p.Ter271Ser) c.497G>C (p.Ter166Ser) c.398G>C (p.Ter133Ser) c.1019G>C (p.Ter340Ser) c.704G>C (p.Ter235Ser) | gnomAD v4 |
| 14 | g.24081237C>T | CA485775420 | NRL | c.713G>A (p.Ter238=) c.296G>A (p.Ter99=) c.812G>A (p.Ter271=) c.497G>A (p.Ter166=) c.398G>A (p.Ter133=) c.1019G>A (p.Ter340=) c.704G>A (p.Ter235=) | gnomAD v4 |
| 14 | g.24081237_24081238del | CA2624297543 | NRL | c.712_713del (p.Ter238SerextTer9) c.295_296del (p.Ter99SerextTer9) c.811_812del (p.Ter271SerextTer9) c.496_497del (p.Ter166SerextTer9) c.397_398del (p.Ter133SerextTer9) c.1018_1019del (p.Ter340SerextTer9) c.703_704del (p.Ter235SerextTer9) | gnomAD v4 |
| 14 | g.24081238A= | CA2123777130 | NRL | c.712T= (p.Ter238=) c.295T= (p.Ter99=) c.811T= (p.Ter271=) c.496T= (p.Ter166=) c.397T= (p.Ter133=) c.1018T= (p.Ter340=) c.703T= (p.Ter235=) | |
| 14 | g.24081238A>C | CA389275968 | NRL | c.712T>G (p.Ter238Gly) c.295T>G (p.Ter99Gly) c.811T>G (p.Ter271Gly) c.496T>G (p.Ter166Gly) c.397T>G (p.Ter133Gly) c.1018T>G (p.Ter340Gly) c.703T>G (p.Ter235Gly) | |
| 14 | g.24081238A>G | CA389275967 | NRL | c.712T>C (p.Ter238Arg) c.295T>C (p.Ter99Arg) c.811T>C (p.Ter271Arg) c.496T>C (p.Ter166Arg) c.397T>C (p.Ter133Arg) c.1018T>C (p.Ter340Arg) c.703T>C (p.Ter235Arg) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081238A>T | CA389275964 | NRL | c.712T>A (p.Ter238Arg) c.295T>A (p.Ter99Arg) c.811T>A (p.Ter271Arg) c.496T>A (p.Ter166Arg) c.397T>A (p.Ter133Arg) c.1018T>A (p.Ter340Arg) c.703T>A (p.Ter235Arg) | gnomAD v4 |
| 14 | g.24081239G>A | CA485775421 | NRL | c.711C>T (p.Leu237=) c.294C>T (p.Leu98=) c.810C>T (p.Leu270=) c.495C>T (p.Leu165=) c.396C>T (p.Leu132=) c.1017C>T (p.Leu339=) c.702C>T (p.Leu234=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081239G>C | CA180256 | NRL | c.711C>G (p.Leu237=) c.294C>G (p.Leu98=) c.810C>G (p.Leu270=) c.495C>G (p.Leu165=) c.396C>G (p.Leu132=) c.1017C>G (p.Leu339=) c.702C>G (p.Leu234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081239G= | CA2123777137 | NRL | c.711C= (p.Leu237=) c.294C= (p.Leu98=) c.810C= (p.Leu270=) c.495C= (p.Leu165=) c.396C= (p.Leu132=) c.1017C= (p.Leu339=) c.702C= (p.Leu234=) | |
| 14 | g.24081239G>T | CA485775422 | NRL | c.711C>A (p.Leu237=) c.294C>A (p.Leu98=) c.810C>A (p.Leu270=) c.495C>A (p.Leu165=) c.396C>A (p.Leu132=) c.1017C>A (p.Leu339=) c.702C>A (p.Leu234=) | gnomAD v4 |
| 14 | g.24081240A>C | CA389275977 | NRL | c.710T>G (p.Leu237Arg) c.293T>G (p.Leu98Arg) c.809T>G (p.Leu270Arg) c.494T>G (p.Leu165Arg) c.395T>G (p.Leu132Arg) c.1016T>G (p.Leu339Arg) c.701T>G (p.Leu234Arg) | |
| 14 | g.24081240A>G | CA389275980 | NRL | c.710T>C (p.Leu237Pro) c.293T>C (p.Leu98Pro) c.809T>C (p.Leu270Pro) c.494T>C (p.Leu165Pro) c.395T>C (p.Leu132Pro) c.1016T>C (p.Leu339Pro) c.701T>C (p.Leu234Pro) | gnomAD v4 |
| 14 | g.24081240A>T | CA389275983 | NRL | c.710T>A (p.Leu237His) c.293T>A (p.Leu98His) c.809T>A (p.Leu270His) c.494T>A (p.Leu165His) c.395T>A (p.Leu132His) c.1016T>A (p.Leu339His) c.701T>A (p.Leu234His) | gnomAD v4 |
| 14 | g.24081240_24081241delinsAG | CA2123777146 | NRL | c.709_710delinsCT (p.Leu237=) c.292_293delinsCT (p.Leu98=) c.808_809delinsCT (p.Leu270=) c.493_494delinsCT (p.Leu165=) c.394_395delinsCT (p.Leu132=) c.1015_1016delinsCT (p.Leu339=) c.700_701delinsCT (p.Leu234=) | |
| 14 | g.24081241G>A | CA389275987 | NRL | c.709C>T (p.Leu237Phe) c.292C>T (p.Leu98Phe) c.808C>T (p.Leu270Phe) c.493C>T (p.Leu165Phe) c.394C>T (p.Leu132Phe) c.1015C>T (p.Leu339Phe) c.700C>T (p.Leu234Phe) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081241G>C | CA389275989 | NRL | c.709C>G (p.Leu237Val) c.292C>G (p.Leu98Val) c.808C>G (p.Leu270Val) c.493C>G (p.Leu165Val) c.394C>G (p.Leu132Val) c.1015C>G (p.Leu339Val) c.700C>G (p.Leu234Val) | gnomAD v4 |
| 14 | g.24081241G= | CA2123777153 | NRL | c.709C= (p.Leu237=) c.292C= (p.Leu98=) c.808C= (p.Leu270=) c.493C= (p.Leu165=) c.394C= (p.Leu132=) c.1015C= (p.Leu339=) c.700C= (p.Leu234=) | |
| 14 | g.24081241G>T | CA389275992 | NRL | c.709C>A (p.Leu237Ile) c.292C>A (p.Leu98Ile) c.808C>A (p.Leu270Ile) c.493C>A (p.Leu165Ile) c.394C>A (p.Leu132Ile) c.1015C>A (p.Leu339Ile) c.700C>A (p.Leu234Ile) | gnomAD v4 COSMIC |
| 14 | g.24081241_24081242del | CA2800892055 | NRL | c.708_709del (p.Ter238SerextTer9) c.291_292del (p.Ter99SerextTer9) c.807_808del (p.Ter271SerextTer9) c.492_493del (p.Ter166SerextTer9) c.393_394del (p.Ter133SerextTer9) c.1014_1015del (p.Ter340SerextTer9) c.699_700del (p.Ter235SerextTer9) | |
| 14 | g.24081242del | CA2123777151 | NRL | c.709del (p.Leu237SerfsTer?) c.292del (p.Leu98SerfsTer?) c.808del (p.Leu270SerfsTer?) c.493del (p.Leu165SerfsTer?) c.394del (p.Leu132SerfsTer?) c.1015del (p.Leu339SerfsTer?) c.700del (p.Leu234SerfsTer?) | dbSNP |
| 14 | g.24081242G>A | CA7122810 | NRL | c.708C>T (p.Phe236=) c.291C>T (p.Phe97=) c.807C>T (p.Phe269=) c.492C>T (p.Phe164=) c.393C>T (p.Phe131=) c.1014C>T (p.Phe338=) c.699C>T (p.Phe233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081242G>C | CA389275998 | NRL | c.708C>G (p.Phe236Leu) c.291C>G (p.Phe97Leu) c.807C>G (p.Phe269Leu) c.492C>G (p.Phe164Leu) c.393C>G (p.Phe131Leu) c.1014C>G (p.Phe338Leu) c.699C>G (p.Phe233Leu) | |
| 14 | g.24081242G= | CA2123777161 | NRL | c.708C= (p.Phe236=) c.291C= (p.Phe97=) c.807C= (p.Phe269=) c.492C= (p.Phe164=) c.393C= (p.Phe131=) c.1014C= (p.Phe338=) c.699C= (p.Phe233=) | |
| 14 | g.24081242G>T | CA389276001 | NRL | c.708C>A (p.Phe236Leu) c.291C>A (p.Phe97Leu) c.807C>A (p.Phe269Leu) c.492C>A (p.Phe164Leu) c.393C>A (p.Phe131Leu) c.1014C>A (p.Phe338Leu) c.699C>A (p.Phe233Leu) | gnomAD v4 |
| 14 | g.24081243A>C | CA389276005 | NRL | c.707T>G (p.Phe236Cys) c.290T>G (p.Phe97Cys) c.806T>G (p.Phe269Cys) c.491T>G (p.Phe164Cys) c.392T>G (p.Phe131Cys) c.1013T>G (p.Phe338Cys) c.698T>G (p.Phe233Cys) | |
| 14 | g.24081243A>G | CA389276007 | NRL | c.707T>C (p.Phe236Ser) c.290T>C (p.Phe97Ser) c.806T>C (p.Phe269Ser) c.491T>C (p.Phe164Ser) c.392T>C (p.Phe131Ser) c.1013T>C (p.Phe338Ser) c.698T>C (p.Phe233Ser) | gnomAD v4 |
| 14 | g.24081243A>T | CA389276008 | NRL | c.707T>A (p.Phe236Tyr) c.290T>A (p.Phe97Tyr) c.806T>A (p.Phe269Tyr) c.491T>A (p.Phe164Tyr) c.392T>A (p.Phe131Tyr) c.1013T>A (p.Phe338Tyr) c.698T>A (p.Phe233Tyr) | gnomAD v4 |
| 14 | g.24081244A>C | CA389276016 | NRL | c.706T>G (p.Phe236Val) c.289T>G (p.Phe97Val) c.805T>G (p.Phe269Val) c.490T>G (p.Phe164Val) c.391T>G (p.Phe131Val) c.1012T>G (p.Phe338Val) c.697T>G (p.Phe233Val) | |
| 14 | g.24081244A>G | CA389276018 | NRL | c.706T>C (p.Phe236Leu) c.289T>C (p.Phe97Leu) c.805T>C (p.Phe269Leu) c.490T>C (p.Phe164Leu) c.391T>C (p.Phe131Leu) c.1012T>C (p.Phe338Leu) c.697T>C (p.Phe233Leu) | gnomAD v4 |
| 14 | g.24081244A>T | CA389276011 | NRL | c.706T>A (p.Phe236Ile) c.289T>A (p.Phe97Ile) c.805T>A (p.Phe269Ile) c.490T>A (p.Phe164Ile) c.391T>A (p.Phe131Ile) c.1012T>A (p.Phe338Ile) c.697T>A (p.Phe233Ile) | |
| 14 | g.24081245G>A | CA485775423 | NRL | c.705C>T (p.Leu235=) c.288C>T (p.Leu96=) c.804C>T (p.Leu268=) c.489C>T (p.Leu163=) c.390C>T (p.Leu130=) c.1011C>T (p.Leu337=) c.696C>T (p.Leu232=) | |
| 14 | g.24081245G>C | CA485775424 | NRL | c.705C>G (p.Leu235=) c.288C>G (p.Leu96=) c.804C>G (p.Leu268=) c.489C>G (p.Leu163=) c.390C>G (p.Leu130=) c.1011C>G (p.Leu337=) c.696C>G (p.Leu232=) | |
| 14 | g.24081245G= | CA2123777163 | NRL | c.705C= (p.Leu235=) c.288C= (p.Leu96=) c.804C= (p.Leu268=) c.489C= (p.Leu163=) c.390C= (p.Leu130=) c.1011C= (p.Leu337=) c.696C= (p.Leu232=) | |
| 14 | g.24081245G>T | CA257868036 | NRL | c.705C>A (p.Leu235=) c.288C>A (p.Leu96=) c.804C>A (p.Leu268=) c.489C>A (p.Leu163=) c.390C>A (p.Leu130=) c.1011C>A (p.Leu337=) c.696C>A (p.Leu232=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081246A>C | CA389276019 | NRL | c.704T>G (p.Leu235Arg) c.287T>G (p.Leu96Arg) c.803T>G (p.Leu268Arg) c.488T>G (p.Leu163Arg) c.389T>G (p.Leu130Arg) c.1010T>G (p.Leu337Arg) c.695T>G (p.Leu232Arg) | |
| 14 | g.24081246A>G | CA389276020 | NRL | c.704T>C (p.Leu235Pro) c.287T>C (p.Leu96Pro) c.803T>C (p.Leu268Pro) c.488T>C (p.Leu163Pro) c.389T>C (p.Leu130Pro) c.1010T>C (p.Leu337Pro) c.695T>C (p.Leu232Pro) | gnomAD v4 |
| 14 | g.24081246A>T | CA389276021 | NRL | c.704T>A (p.Leu235His) c.287T>A (p.Leu96His) c.803T>A (p.Leu268His) c.488T>A (p.Leu163His) c.389T>A (p.Leu130His) c.1010T>A (p.Leu337His) c.695T>A (p.Leu232His) | gnomAD v4 |
| 14 | g.24081247G>A | CA7122811 | NRL | c.703C>T (p.Leu235Phe) c.286C>T (p.Leu96Phe) c.802C>T (p.Leu268Phe) c.487C>T (p.Leu163Phe) c.388C>T (p.Leu130Phe) c.1009C>T (p.Leu337Phe) c.694C>T (p.Leu232Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081247G>C | CA389276022 | NRL | c.703C>G (p.Leu235Val) c.286C>G (p.Leu96Val) c.802C>G (p.Leu268Val) c.487C>G (p.Leu163Val) c.388C>G (p.Leu130Val) c.1009C>G (p.Leu337Val) c.694C>G (p.Leu232Val) | COSMIC |
| 14 | g.24081247G= | CA2123777165 | NRL | c.703C= (p.Leu235=) c.286C= (p.Leu96=) c.802C= (p.Leu268=) c.487C= (p.Leu163=) c.388C= (p.Leu130=) c.1009C= (p.Leu337=) c.694C= (p.Leu232=) | |
| 14 | g.24081247G>T | CA389276025 | NRL | c.703C>A (p.Leu235Ile) c.286C>A (p.Leu96Ile) c.802C>A (p.Leu268Ile) c.487C>A (p.Leu163Ile) c.388C>A (p.Leu130Ile) c.1009C>A (p.Leu337Ile) c.694C>A (p.Leu232Ile) | gnomAD v4 |
| 14 | g.24081247_24081249delinsGGT | CA2123777167 | NRL | c.701_703delinsACC (p.His234=) c.284_286delinsACC (p.His95=) c.800_802delinsACC (p.His267=) c.485_487delinsACC (p.His162=) c.386_388delinsACC (p.His129=) c.1007_1009delinsACC (p.His336=) c.692_694delinsACC (p.His231=) | |
| 14 | g.24081248G>A | CA485775425 | NRL | c.702C>T (p.His234=) c.285C>T (p.His95=) c.801C>T (p.His267=) c.486C>T (p.His162=) c.387C>T (p.His129=) c.1008C>T (p.His336=) c.693C>T (p.His231=) | gnomAD v4 |
| 14 | g.24081248G>C | CA389276032 | NRL | c.702C>G (p.His234Gln) c.285C>G (p.His95Gln) c.801C>G (p.His267Gln) c.486C>G (p.His162Gln) c.387C>G (p.His129Gln) c.1008C>G (p.His336Gln) c.693C>G (p.His231Gln) | |
| 14 | g.24081248G>T | CA389276030 | NRL | c.702C>A (p.His234Gln) c.285C>A (p.His95Gln) c.801C>A (p.His267Gln) c.486C>A (p.His162Gln) c.387C>A (p.His129Gln) c.1008C>A (p.His336Gln) c.693C>A (p.His231Gln) | gnomAD v4 |
| 14 | g.24081249_24081250del | CA961115974 | NRL | c.701_702del (p.His234ProfsTer13) c.284_285del (p.His95ProfsTer13) c.800_801del (p.His267ProfsTer13) c.485_486del (p.His162ProfsTer13) c.386_387del (p.His129ProfsTer13) c.1007_1008del (p.His336ProfsTer13) c.692_693del (p.His231ProfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081249T>A | CA389276039 | NRL | c.701A>T (p.His234Leu) c.284A>T (p.His95Leu) c.800A>T (p.His267Leu) c.485A>T (p.His162Leu) c.386A>T (p.His129Leu) c.1007A>T (p.His336Leu) c.692A>T (p.His231Leu) | gnomAD v4 |
| 14 | g.24081249T>C | CA389276040 | NRL | c.701A>G (p.His234Arg) c.284A>G (p.His95Arg) c.800A>G (p.His267Arg) c.485A>G (p.His162Arg) c.386A>G (p.His129Arg) c.1007A>G (p.His336Arg) c.692A>G (p.His231Arg) | gnomAD v4 |
| 14 | g.24081249T>G | CA389276043 | NRL | c.701A>C (p.His234Pro) c.284A>C (p.His95Pro) c.800A>C (p.His267Pro) c.485A>C (p.His162Pro) c.386A>C (p.His129Pro) c.1007A>C (p.His336Pro) c.692A>C (p.His231Pro) | gnomAD v4 |
| 14 | g.24081250G>A | CA389276050 | NRL | c.700C>T (p.His234Tyr) c.283C>T (p.His95Tyr) c.799C>T (p.His267Tyr) c.484C>T (p.His162Tyr) c.385C>T (p.His129Tyr) c.1006C>T (p.His336Tyr) c.691C>T (p.His231Tyr) | gnomAD v4 |
| 14 | g.24081250G>C | CA389276054 | NRL | c.700C>G (p.His234Asp) c.283C>G (p.His95Asp) c.799C>G (p.His267Asp) c.484C>G (p.His162Asp) c.385C>G (p.His129Asp) c.1006C>G (p.His336Asp) c.691C>G (p.His231Asp) | |
| 14 | g.24081250G>T | CA389276055 | NRL | c.700C>A (p.His234Asn) c.283C>A (p.His95Asn) c.799C>A (p.His267Asn) c.484C>A (p.His162Asn) c.385C>A (p.His129Asn) c.1006C>A (p.His336Asn) c.691C>A (p.His231Asn) | gnomAD v4 |
| 14 | g.24081252del | CA2624297633 | NRL | c.700del (p.His234ThrfsTer?) c.283del (p.His95ThrfsTer?) c.799del (p.His267ThrfsTer?) c.484del (p.His162ThrfsTer?) c.385del (p.His129ThrfsTer?) c.1006del (p.His336ThrfsTer?) c.691del (p.His231ThrfsTer?) | gnomAD v4 |
| 14 | g.24081252_24081264dup | CA2624297632 | NRL | c.688_700dup (p.His234ArgfsTer18) c.271_283dup (p.His95ArgfsTer18) c.787_799dup (p.His267ArgfsTer18) c.472_484dup (p.His162ArgfsTer18) c.373_385dup (p.His129ArgfsTer18) c.994_1006dup (p.His336ArgfsTer18) c.679_691dup (p.His231ArgfsTer18) | gnomAD v4 |
| 14 | g.24081251G>A | CA485775426 | NRL | c.699C>T (p.Ser233=) c.282C>T (p.Ser94=) c.798C>T (p.Ser266=) c.483C>T (p.Ser161=) c.384C>T (p.Ser128=) c.1005C>T (p.Ser335=) c.690C>T (p.Ser230=) | gnomAD v4 |
| 14 | g.24081251G>C | CA485775427 | NRL | c.699C>G (p.Ser233=) c.282C>G (p.Ser94=) c.798C>G (p.Ser266=) c.483C>G (p.Ser161=) c.384C>G (p.Ser128=) c.1005C>G (p.Ser335=) c.690C>G (p.Ser230=) | |
| 14 | g.24081251G>T | CA485775428 | NRL | c.699C>A (p.Ser233=) c.282C>A (p.Ser94=) c.798C>A (p.Ser266=) c.483C>A (p.Ser161=) c.384C>A (p.Ser128=) c.1005C>A (p.Ser335=) c.690C>A (p.Ser230=) | gnomAD v4 |
| 14 | g.24081252G>A | CA389276066 | NRL | c.698C>T (p.Ser233Phe) c.281C>T (p.Ser94Phe) c.797C>T (p.Ser266Phe) c.482C>T (p.Ser161Phe) c.383C>T (p.Ser128Phe) c.1004C>T (p.Ser335Phe) c.689C>T (p.Ser230Phe) | |
| 14 | g.24081252G>C | CA389276061 | NRL | c.698C>G (p.Ser233Cys) c.281C>G (p.Ser94Cys) c.797C>G (p.Ser266Cys) c.482C>G (p.Ser161Cys) c.383C>G (p.Ser128Cys) c.1004C>G (p.Ser335Cys) c.689C>G (p.Ser230Cys) | |
| 14 | g.24081252G>T | CA389276062 | NRL | c.698C>A (p.Ser233Tyr) c.281C>A (p.Ser94Tyr) c.797C>A (p.Ser266Tyr) c.482C>A (p.Ser161Tyr) c.383C>A (p.Ser128Tyr) c.1004C>A (p.Ser335Tyr) c.689C>A (p.Ser230Tyr) | gnomAD v4 |
| 14 | g.24081253del | CA2624297648 | NRL | c.697del (p.Ser233ProfsTer?) c.280del (p.Ser94ProfsTer?) c.796del (p.Ser266ProfsTer?) c.481del (p.Ser161ProfsTer?) c.382del (p.Ser128ProfsTer?) c.1003del (p.Ser335ProfsTer?) c.688del (p.Ser230ProfsTer?) | gnomAD v4 |
| 14 | g.24081253A>C | CA389276068 | NRL | c.697T>G (p.Ser233Ala) c.280T>G (p.Ser94Ala) c.796T>G (p.Ser266Ala) c.481T>G (p.Ser161Ala) c.382T>G (p.Ser128Ala) c.1003T>G (p.Ser335Ala) c.688T>G (p.Ser230Ala) | |
| 14 | g.24081253A>G | CA389276070 | NRL | c.697T>C (p.Ser233Pro) c.280T>C (p.Ser94Pro) c.796T>C (p.Ser266Pro) c.481T>C (p.Ser161Pro) c.382T>C (p.Ser128Pro) c.1003T>C (p.Ser335Pro) c.688T>C (p.Ser230Pro) | gnomAD v4 |
| 14 | g.24081253A>T | CA389276071 | NRL | c.697T>A (p.Ser233Thr) c.280T>A (p.Ser94Thr) c.796T>A (p.Ser266Thr) c.481T>A (p.Ser161Thr) c.382T>A (p.Ser128Thr) c.1003T>A (p.Ser335Thr) c.688T>A (p.Ser230Thr) | gnomAD v4 |
| 14 | g.24081253_24081254insCA | CA2624297646 | NRL | c.697_698insGT (p.Ser233CysfsTer?) c.280_281insGT (p.Ser94CysfsTer?) c.796_797insGT (p.Ser266CysfsTer?) c.481_482insGT (p.Ser161CysfsTer?) c.382_383insGT (p.Ser128CysfsTer?) c.1003_1004insGT (p.Ser335CysfsTer?) c.688_689insGT (p.Ser230CysfsTer?) | gnomAD v4 |
| 14 | g.24081254G>A | CA485775429 | NRL | c.696C>T (p.Pro232=) c.279C>T (p.Pro93=) c.795C>T (p.Pro265=) c.480C>T (p.Pro160=) c.381C>T (p.Pro127=) c.1002C>T (p.Pro334=) c.687C>T (p.Pro229=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081254G>C | CA485775430 | NRL | c.696C>G (p.Pro232=) c.279C>G (p.Pro93=) c.795C>G (p.Pro265=) c.480C>G (p.Pro160=) c.381C>G (p.Pro127=) c.1002C>G (p.Pro334=) c.687C>G (p.Pro229=) | |
| 14 | g.24081254G= | CA2123777174 | NRL | c.696C= (p.Pro232=) c.279C= (p.Pro93=) c.795C= (p.Pro265=) c.480C= (p.Pro160=) c.381C= (p.Pro127=) c.1002C= (p.Pro334=) c.687C= (p.Pro229=) | |
| 14 | g.24081254G>T | CA485775431 | NRL | c.696C>A (p.Pro232=) c.279C>A (p.Pro93=) c.795C>A (p.Pro265=) c.480C>A (p.Pro160=) c.381C>A (p.Pro127=) c.1002C>A (p.Pro334=) c.687C>A (p.Pro229=) | gnomAD v4 |
| 14 | g.24081255G>A | CA389276073 | NRL | c.695C>T (p.Pro232Leu) c.278C>T (p.Pro93Leu) c.794C>T (p.Pro265Leu) c.479C>T (p.Pro160Leu) c.380C>T (p.Pro127Leu) c.1001C>T (p.Pro334Leu) c.686C>T (p.Pro229Leu) | gnomAD v4 |
| 14 | g.24081255G>C | CA389276074 | NRL | c.695C>G (p.Pro232Arg) c.278C>G (p.Pro93Arg) c.794C>G (p.Pro265Arg) c.479C>G (p.Pro160Arg) c.380C>G (p.Pro127Arg) c.1001C>G (p.Pro334Arg) c.686C>G (p.Pro229Arg) | |
| 14 | g.24081255G>T | CA389276078 | NRL | c.695C>A (p.Pro232His) c.278C>A (p.Pro93His) c.794C>A (p.Pro265His) c.479C>A (p.Pro160His) c.380C>A (p.Pro127His) c.1001C>A (p.Pro334His) c.686C>A (p.Pro229His) | gnomAD v4 |
| 14 | g.24081255_24081268delinsGGGTCCCCGGACCC | CA2123777181 | NRL | c.682_695delinsGGGTCCGGGGACCC (p.Gly228=) c.265_278delinsGGGTCCGGGGACCC (p.Gly89=) c.781_794delinsGGGTCCGGGGACCC (p.Gly261=) c.466_479delinsGGGTCCGGGGACCC (p.Gly156=) c.367_380delinsGGGTCCGGGGACCC (p.Gly123=) c.988_1001delinsGGGTCCGGGGACCC (p.Gly330=) c.673_686delinsGGGTCCGGGGACCC (p.Gly225=) | |
| 14 | g.24081256G>A | CA389276085 | NRL | c.694C>T (p.Pro232Ser) c.277C>T (p.Pro93Ser) c.793C>T (p.Pro265Ser) c.478C>T (p.Pro160Ser) c.379C>T (p.Pro127Ser) c.1000C>T (p.Pro334Ser) c.685C>T (p.Pro229Ser) | gnomAD v4 |
| 14 | g.24081256G>C | CA389276083 | NRL | c.694C>G (p.Pro232Ala) c.277C>G (p.Pro93Ala) c.793C>G (p.Pro265Ala) c.478C>G (p.Pro160Ala) c.379C>G (p.Pro127Ala) c.1000C>G (p.Pro334Ala) c.685C>G (p.Pro229Ala) | gnomAD v4 |
| 14 | g.24081256G>T | CA389276084 | NRL | c.694C>A (p.Pro232Thr) c.277C>A (p.Pro93Thr) c.793C>A (p.Pro265Thr) c.478C>A (p.Pro160Thr) c.379C>A (p.Pro127Thr) c.1000C>A (p.Pro334Thr) c.685C>A (p.Pro229Thr) | gnomAD v4 |
| 14 | g.24081258_24081270del | CA961115980 | NRL | c.682_694del (p.Gly228ProfsTer?) c.265_277del (p.Gly89ProfsTer?) c.781_793del (p.Gly261ProfsTer?) c.466_478del (p.Gly156ProfsTer?) c.367_379del (p.Gly123ProfsTer?) c.988_1000del (p.Gly330ProfsTer?) c.673_685del (p.Gly225ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |