Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
14 | g.24081257G>A | CA257868037 | NRL | c.693C>T (p.Asp231=) c.276C>T (p.Asp92=) c.792C>T (p.Asp264=) c.477C>T (p.Asp159=) c.378C>T (p.Asp126=) c.999C>T (p.Asp333=) c.684C>T (p.Asp228=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081257G>C | CA389276086 | NRL | c.693C>G (p.Asp231Glu) c.276C>G (p.Asp92Glu) c.792C>G (p.Asp264Glu) c.477C>G (p.Asp159Glu) c.378C>G (p.Asp126Glu) c.999C>G (p.Asp333Glu) c.684C>G (p.Asp228Glu) | ClinVar gnomAD v4 |
14 | g.24081257G= | CA2123777187 | NRL | c.693C= (p.Asp231=) c.276C= (p.Asp92=) c.792C= (p.Asp264=) c.477C= (p.Asp159=) c.378C= (p.Asp126=) c.999C= (p.Asp333=) c.684C= (p.Asp228=) | |
14 | g.24081257G>T | CA389276088 | NRL | c.693C>A (p.Asp231Glu) c.276C>A (p.Asp92Glu) c.792C>A (p.Asp264Glu) c.477C>A (p.Asp159Glu) c.378C>A (p.Asp126Glu) c.999C>A (p.Asp333Glu) c.684C>A (p.Asp228Glu) | gnomAD v4 |
14 | g.24081258T>A | CA389276092 | NRL | c.692A>T (p.Asp231Val) c.275A>T (p.Asp92Val) c.791A>T (p.Asp264Val) c.476A>T (p.Asp159Val) c.377A>T (p.Asp126Val) c.998A>T (p.Asp333Val) c.683A>T (p.Asp228Val) | gnomAD v4 |
14 | g.24081258T>C | CA389276095 | NRL | c.692A>G (p.Asp231Gly) c.275A>G (p.Asp92Gly) c.791A>G (p.Asp264Gly) c.476A>G (p.Asp159Gly) c.377A>G (p.Asp126Gly) c.998A>G (p.Asp333Gly) c.683A>G (p.Asp228Gly) | gnomAD v4 |
14 | g.24081258T>G | CA389276098 | NRL | c.692A>C (p.Asp231Ala) c.275A>C (p.Asp92Ala) c.791A>C (p.Asp264Ala) c.476A>C (p.Asp159Ala) c.377A>C (p.Asp126Ala) c.998A>C (p.Asp333Ala) c.683A>C (p.Asp228Ala) | |
14 | g.24081258_24081259delinsTC | CA2123777193 | NRL | c.691_692delinsGA (p.Asp231=) c.274_275delinsGA (p.Asp92=) c.790_791delinsGA (p.Asp264=) c.475_476delinsGA (p.Asp159=) c.376_377delinsGA (p.Asp126=) c.997_998delinsGA (p.Asp333=) c.682_683delinsGA (p.Asp228=) | |
14 | g.24081259C>A | CA389276103 | NRL | c.691G>T (p.Asp231Tyr) c.274G>T (p.Asp92Tyr) c.790G>T (p.Asp264Tyr) c.475G>T (p.Asp159Tyr) c.376G>T (p.Asp126Tyr) c.997G>T (p.Asp333Tyr) c.682G>T (p.Asp228Tyr) | gnomAD v4 |
14 | g.24081259C= | CA2123777199 | NRL | c.691G= (p.Asp231=) c.274G= (p.Asp92=) c.790G= (p.Asp264=) c.475G= (p.Asp159=) c.376G= (p.Asp126=) c.997G= (p.Asp333=) c.682G= (p.Asp228=) | |
14 | g.24081259C>G | CA389276107 | NRL | c.691G>C (p.Asp231His) c.274G>C (p.Asp92His) c.790G>C (p.Asp264His) c.475G>C (p.Asp159His) c.376G>C (p.Asp126His) c.997G>C (p.Asp333His) c.682G>C (p.Asp228His) | gnomAD v4 |
14 | g.24081259C>T | CA7122812 | NRL | c.691G>A (p.Asp231Asn) c.274G>A (p.Asp92Asn) c.790G>A (p.Asp264Asn) c.475G>A (p.Asp159Asn) c.376G>A (p.Asp126Asn) c.997G>A (p.Asp333Asn) c.682G>A (p.Asp228Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081262del | CA613319078 | NRL | c.691del (p.Asp231ThrfsTer?) c.274del (p.Asp92ThrfsTer?) c.790del (p.Asp264ThrfsTer?) c.475del (p.Asp159ThrfsTer?) c.376del (p.Asp126ThrfsTer?) c.997del (p.Asp333ThrfsTer?) c.682del (p.Asp228ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081260C>A | CA485775432 | NRL | c.690G>T (p.Gly230=) c.273G>T (p.Gly91=) c.789G>T (p.Gly263=) c.474G>T (p.Gly158=) c.375G>T (p.Gly125=) c.996G>T (p.Gly332=) c.681G>T (p.Gly227=) | gnomAD v4 |
14 | g.24081260C>G | CA485775433 | NRL | c.690G>C (p.Gly230=) c.273G>C (p.Gly91=) c.789G>C (p.Gly263=) c.474G>C (p.Gly158=) c.375G>C (p.Gly125=) c.996G>C (p.Gly332=) c.681G>C (p.Gly227=) | |
14 | g.24081260C>T | CA485775434 | NRL | c.690G>A (p.Gly230=) c.273G>A (p.Gly91=) c.789G>A (p.Gly263=) c.474G>A (p.Gly158=) c.375G>A (p.Gly125=) c.996G>A (p.Gly332=) c.681G>A (p.Gly227=) | gnomAD v4 |
14 | g.24081261C>A | CA389276109 | NRL | c.689G>T (p.Gly230Val) c.272G>T (p.Gly91Val) c.788G>T (p.Gly263Val) c.473G>T (p.Gly158Val) c.374G>T (p.Gly125Val) c.995G>T (p.Gly332Val) c.680G>T (p.Gly227Val) | gnomAD v4 |
14 | g.24081261C= | CA2123777203 | NRL | c.689G= (p.Gly230=) c.272G= (p.Gly91=) c.788G= (p.Gly263=) c.473G= (p.Gly158=) c.374G= (p.Gly125=) c.995G= (p.Gly332=) c.680G= (p.Gly227=) | |
14 | g.24081261C>G | CA389276113 | NRL | c.689G>C (p.Gly230Ala) c.272G>C (p.Gly91Ala) c.788G>C (p.Gly263Ala) c.473G>C (p.Gly158Ala) c.374G>C (p.Gly125Ala) c.995G>C (p.Gly332Ala) c.680G>C (p.Gly227Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081261C>T | CA389276115 | NRL | c.689G>A (p.Gly230Glu) c.272G>A (p.Gly91Glu) c.788G>A (p.Gly263Glu) c.473G>A (p.Gly158Glu) c.374G>A (p.Gly125Glu) c.995G>A (p.Gly332Glu) c.680G>A (p.Gly227Glu) | gnomAD v4 |
14 | g.24081262C>A | CA389276126 | NRL | c.688G>T (p.Gly230Trp) c.271G>T (p.Gly91Trp) c.787G>T (p.Gly263Trp) c.472G>T (p.Gly158Trp) c.373G>T (p.Gly125Trp) c.994G>T (p.Gly332Trp) c.679G>T (p.Gly227Trp) | gnomAD v4 |
14 | g.24081262C= | CA2123777205 | NRL | c.688G= (p.Gly230=) c.271G= (p.Gly91=) c.787G= (p.Gly263=) c.472G= (p.Gly158=) c.373G= (p.Gly125=) c.994G= (p.Gly332=) c.679G= (p.Gly227=) | |
14 | g.24081262C>G | CA389276129 | NRL | c.688G>C (p.Gly230Arg) c.271G>C (p.Gly91Arg) c.787G>C (p.Gly263Arg) c.472G>C (p.Gly158Arg) c.373G>C (p.Gly125Arg) c.994G>C (p.Gly332Arg) c.679G>C (p.Gly227Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081262C>T | CA389276131 | NRL | c.688G>A (p.Gly230Arg) c.271G>A (p.Gly91Arg) c.787G>A (p.Gly263Arg) c.472G>A (p.Gly158Arg) c.373G>A (p.Gly125Arg) c.994G>A (p.Gly332Arg) c.679G>A (p.Gly227Arg) | gnomAD v4 |
14 | g.24081263G>A | CA7122813 | NRL | c.687C>T (p.Ser229=) c.270C>T (p.Ser90=) c.786C>T (p.Ser262=) c.471C>T (p.Ser157=) c.372C>T (p.Ser124=) c.993C>T (p.Ser331=) c.678C>T (p.Ser226=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24081263G>C | CA485775435 | NRL | c.687C>G (p.Ser229=) c.270C>G (p.Ser90=) c.786C>G (p.Ser262=) c.471C>G (p.Ser157=) c.372C>G (p.Ser124=) c.993C>G (p.Ser331=) c.678C>G (p.Ser226=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081263G= | CA2123777211 | NRL | c.687C= (p.Ser229=) c.270C= (p.Ser90=) c.786C= (p.Ser262=) c.471C= (p.Ser157=) c.372C= (p.Ser124=) c.993C= (p.Ser331=) c.678C= (p.Ser226=) | |
14 | g.24081263G>T | CA485775436 | NRL | c.687C>A (p.Ser229=) c.270C>A (p.Ser90=) c.786C>A (p.Ser262=) c.471C>A (p.Ser157=) c.372C>A (p.Ser124=) c.993C>A (p.Ser331=) c.678C>A (p.Ser226=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081264G>A | CA389276134 | NRL | c.686C>T (p.Ser229Phe) c.269C>T (p.Ser90Phe) c.785C>T (p.Ser262Phe) c.470C>T (p.Ser157Phe) c.371C>T (p.Ser124Phe) c.992C>T (p.Ser331Phe) c.677C>T (p.Ser226Phe) | gnomAD v4 |
14 | g.24081264G>C | CA389276136 | NRL | c.686C>G (p.Ser229Cys) c.269C>G (p.Ser90Cys) c.785C>G (p.Ser262Cys) c.470C>G (p.Ser157Cys) c.371C>G (p.Ser124Cys) c.992C>G (p.Ser331Cys) c.677C>G (p.Ser226Cys) | |
14 | g.24081264G>T | CA389276141 | NRL | c.686C>A (p.Ser229Tyr) c.269C>A (p.Ser90Tyr) c.785C>A (p.Ser262Tyr) c.470C>A (p.Ser157Tyr) c.371C>A (p.Ser124Tyr) c.992C>A (p.Ser331Tyr) c.677C>A (p.Ser226Tyr) | gnomAD v4 |
14 | g.24081265A= | CA2123777216 | NRL | c.685T= (p.Ser229=) c.268T= (p.Ser90=) c.784T= (p.Ser262=) c.469T= (p.Ser157=) c.370T= (p.Ser124=) c.991T= (p.Ser331=) c.676T= (p.Ser226=) | |
14 | g.24081265A>C | CA389276146 | NRL | c.685T>G (p.Ser229Ala) c.268T>G (p.Ser90Ala) c.784T>G (p.Ser262Ala) c.469T>G (p.Ser157Ala) c.370T>G (p.Ser124Ala) c.991T>G (p.Ser331Ala) c.676T>G (p.Ser226Ala) | dbSNP |
14 | g.24081265A>G | CA389276149 | NRL | c.685T>C (p.Ser229Pro) c.268T>C (p.Ser90Pro) c.784T>C (p.Ser262Pro) c.469T>C (p.Ser157Pro) c.370T>C (p.Ser124Pro) c.991T>C (p.Ser331Pro) c.676T>C (p.Ser226Pro) | gnomAD v4 |
14 | g.24081265A>T | CA389276161 | NRL | c.685T>A (p.Ser229Thr) c.268T>A (p.Ser90Thr) c.784T>A (p.Ser262Thr) c.469T>A (p.Ser157Thr) c.370T>A (p.Ser124Thr) c.991T>A (p.Ser331Thr) c.676T>A (p.Ser226Thr) | |
14 | g.24081266C>A | CA485775437 | NRL | c.684G>T (p.Gly228=) c.267G>T (p.Gly89=) c.783G>T (p.Gly261=) c.468G>T (p.Gly156=) c.369G>T (p.Gly123=) c.990G>T (p.Gly330=) c.675G>T (p.Gly225=) | gnomAD v4 |
14 | g.24081266C>G | CA485775439 | NRL | c.684G>C (p.Gly228=) c.267G>C (p.Gly89=) c.783G>C (p.Gly261=) c.468G>C (p.Gly156=) c.369G>C (p.Gly123=) c.990G>C (p.Gly330=) c.675G>C (p.Gly225=) | gnomAD v4 |
14 | g.24081266C>T | CA485775438 | NRL | c.684G>A (p.Gly228=) c.267G>A (p.Gly89=) c.783G>A (p.Gly261=) c.468G>A (p.Gly156=) c.369G>A (p.Gly123=) c.990G>A (p.Gly330=) c.675G>A (p.Gly225=) | ClinVar dbSNP gnomAD v4 |
14 | g.24081268del | CA2624297730 | NRL | c.684del (p.Ser229ProfsTer?) c.267del (p.Ser90ProfsTer?) c.783del (p.Ser262ProfsTer?) c.468del (p.Ser157ProfsTer?) c.369del (p.Ser124ProfsTer?) c.990del (p.Ser331ProfsTer?) c.675del (p.Ser226ProfsTer?) | gnomAD v4 |
14 | g.24081267C>A | CA389276181 | NRL | c.683G>T (p.Gly228Val) c.266G>T (p.Gly89Val) c.782G>T (p.Gly261Val) c.467G>T (p.Gly156Val) c.368G>T (p.Gly123Val) c.989G>T (p.Gly330Val) c.674G>T (p.Gly225Val) | gnomAD v4 |
14 | g.24081267C= | CA2123777221 | NRL | c.683G= (p.Gly228=) c.266G= (p.Gly89=) c.782G= (p.Gly261=) c.467G= (p.Gly156=) c.368G= (p.Gly123=) c.989G= (p.Gly330=) c.674G= (p.Gly225=) | |
14 | g.24081267C>G | CA389276165 | NRL | c.683G>C (p.Gly228Ala) c.266G>C (p.Gly89Ala) c.782G>C (p.Gly261Ala) c.467G>C (p.Gly156Ala) c.368G>C (p.Gly123Ala) c.989G>C (p.Gly330Ala) c.674G>C (p.Gly225Ala) | |
14 | g.24081267C>T | CA7122814 | NRL | c.683G>A (p.Gly228Glu) c.266G>A (p.Gly89Glu) c.782G>A (p.Gly261Glu) c.467G>A (p.Gly156Glu) c.368G>A (p.Gly123Glu) c.989G>A (p.Gly330Glu) c.674G>A (p.Gly225Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24081268C>A | CA389276187 | NRL | c.682G>T (p.Gly228Trp) c.265G>T (p.Gly89Trp) c.781G>T (p.Gly261Trp) c.466G>T (p.Gly156Trp) c.367G>T (p.Gly123Trp) c.988G>T (p.Gly330Trp) c.673G>T (p.Gly225Trp) | gnomAD v4 |
14 | g.24081268C= | CA2123777226 | NRL | c.682G= (p.Gly228=) c.265G= (p.Gly89=) c.781G= (p.Gly261=) c.466G= (p.Gly156=) c.367G= (p.Gly123=) c.988G= (p.Gly330=) c.673G= (p.Gly225=) | |
14 | g.24081268C>G | CA389276189 | NRL | c.682G>C (p.Gly228Arg) c.265G>C (p.Gly89Arg) c.781G>C (p.Gly261Arg) c.466G>C (p.Gly156Arg) c.367G>C (p.Gly123Arg) c.988G>C (p.Gly330Arg) c.673G>C (p.Gly225Arg) | gnomAD v4 |
14 | g.24081268C>T | CA389276191 | NRL | c.682G>A (p.Gly228Arg) c.265G>A (p.Gly89Arg) c.781G>A (p.Gly261Arg) c.466G>A (p.Gly156Arg) c.367G>A (p.Gly123Arg) c.988G>A (p.Gly330Arg) c.673G>A (p.Gly225Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081269G>A | CA485775440 | NRL | c.681C>T (p.Pro227=) c.264C>T (p.Pro88=) c.780C>T (p.Pro260=) c.465C>T (p.Pro155=) c.366C>T (p.Pro122=) c.987C>T (p.Pro329=) c.672C>T (p.Pro224=) | gnomAD v4 |
14 | g.24081269G>C | CA485775441 | NRL | c.681C>G (p.Pro227=) c.264C>G (p.Pro88=) c.780C>G (p.Pro260=) c.465C>G (p.Pro155=) c.366C>G (p.Pro122=) c.987C>G (p.Pro329=) c.672C>G (p.Pro224=) | gnomAD v4 |
14 | g.24081269G>T | CA485775442 | NRL | c.681C>A (p.Pro227=) c.264C>A (p.Pro88=) c.780C>A (p.Pro260=) c.465C>A (p.Pro155=) c.366C>A (p.Pro122=) c.987C>A (p.Pro329=) c.672C>A (p.Pro224=) | gnomAD v4 |
14 | g.24081272del | CA613319079 | NRL | c.681del (p.Ser229ProfsTer?) c.264del (p.Ser90ProfsTer?) c.780del (p.Ser262ProfsTer?) c.465del (p.Ser157ProfsTer?) c.366del (p.Ser124ProfsTer?) c.987del (p.Ser331ProfsTer?) c.672del (p.Ser226ProfsTer?) | gnomAD v2 gnomAD v4 |
14 | g.24081270G>A | CA389276193 | NRL | c.680C>T (p.Pro227Leu) c.263C>T (p.Pro88Leu) c.779C>T (p.Pro260Leu) c.464C>T (p.Pro155Leu) c.365C>T (p.Pro122Leu) c.986C>T (p.Pro329Leu) c.671C>T (p.Pro224Leu) | gnomAD v4 |
14 | g.24081270G>C | CA389276194 | NRL | c.680C>G (p.Pro227Arg) c.263C>G (p.Pro88Arg) c.779C>G (p.Pro260Arg) c.464C>G (p.Pro155Arg) c.365C>G (p.Pro122Arg) c.986C>G (p.Pro329Arg) c.671C>G (p.Pro224Arg) | |
14 | g.24081270G>T | CA389276196 | NRL | c.680C>A (p.Pro227His) c.263C>A (p.Pro88His) c.779C>A (p.Pro260His) c.464C>A (p.Pro155His) c.365C>A (p.Pro122His) c.986C>A (p.Pro329His) c.671C>A (p.Pro224His) | gnomAD v4 |
14 | g.24081271G>A | CA389276202 | NRL | c.679C>T (p.Pro227Ser) c.262C>T (p.Pro88Ser) c.778C>T (p.Pro260Ser) c.463C>T (p.Pro155Ser) c.364C>T (p.Pro122Ser) c.985C>T (p.Pro329Ser) c.670C>T (p.Pro224Ser) | gnomAD v4 |
14 | g.24081271G>C | CA389276203 | NRL | c.679C>G (p.Pro227Ala) c.262C>G (p.Pro88Ala) c.778C>G (p.Pro260Ala) c.463C>G (p.Pro155Ala) c.364C>G (p.Pro122Ala) c.985C>G (p.Pro329Ala) c.670C>G (p.Pro224Ala) | |
14 | g.24081271G>T | CA389276207 | NRL | c.679C>A (p.Pro227Thr) c.262C>A (p.Pro88Thr) c.778C>A (p.Pro260Thr) c.463C>A (p.Pro155Thr) c.364C>A (p.Pro122Thr) c.985C>A (p.Pro329Thr) c.670C>A (p.Pro224Thr) | gnomAD v4 |
14 | g.24081272G>A | CA485775443 | NRL | c.678C>T (p.Gly226=) c.261C>T (p.Gly87=) c.777C>T (p.Gly259=) c.462C>T (p.Gly154=) c.363C>T (p.Gly121=) c.984C>T (p.Gly328=) c.669C>T (p.Gly223=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081272G>C | CA485775444 | NRL | c.678C>G (p.Gly226=) c.261C>G (p.Gly87=) c.777C>G (p.Gly259=) c.462C>G (p.Gly154=) c.363C>G (p.Gly121=) c.984C>G (p.Gly328=) c.669C>G (p.Gly223=) | gnomAD v4 |
14 | g.24081272G= | CA2123777229 | NRL | c.678C= (p.Gly226=) c.261C= (p.Gly87=) c.777C= (p.Gly259=) c.462C= (p.Gly154=) c.363C= (p.Gly121=) c.984C= (p.Gly328=) c.669C= (p.Gly223=) | |
14 | g.24081272G>T | CA485775445 | NRL | c.678C>A (p.Gly226=) c.261C>A (p.Gly87=) c.777C>A (p.Gly259=) c.462C>A (p.Gly154=) c.363C>A (p.Gly121=) c.984C>A (p.Gly328=) c.669C>A (p.Gly223=) | gnomAD v4 |
14 | g.24081273C>A | CA389276210 | NRL | c.677G>T (p.Gly226Val) c.260G>T (p.Gly87Val) c.776G>T (p.Gly259Val) c.461G>T (p.Gly154Val) c.362G>T (p.Gly121Val) c.983G>T (p.Gly328Val) c.668G>T (p.Gly223Val) | ClinVar dbSNP gnomAD v4 |
14 | g.24081273C= | CA2123777235 | NRL | c.677G= (p.Gly226=) c.260G= (p.Gly87=) c.776G= (p.Gly259=) c.461G= (p.Gly154=) c.362G= (p.Gly121=) c.983G= (p.Gly328=) c.668G= (p.Gly223=) | |
14 | g.24081273C>G | CA389276213 | NRL | c.677G>C (p.Gly226Ala) c.260G>C (p.Gly87Ala) c.776G>C (p.Gly259Ala) c.461G>C (p.Gly154Ala) c.362G>C (p.Gly121Ala) c.983G>C (p.Gly328Ala) c.668G>C (p.Gly223Ala) | |
14 | g.24081273C>T | CA389276214 | NRL | c.677G>A (p.Gly226Asp) c.260G>A (p.Gly87Asp) c.776G>A (p.Gly259Asp) c.461G>A (p.Gly154Asp) c.362G>A (p.Gly121Asp) c.983G>A (p.Gly328Asp) c.668G>A (p.Gly223Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081274C>A | CA389276216 | NRL | c.676G>T (p.Gly226Cys) c.259G>T (p.Gly87Cys) c.775G>T (p.Gly259Cys) c.460G>T (p.Gly154Cys) c.361G>T (p.Gly121Cys) c.982G>T (p.Gly328Cys) c.667G>T (p.Gly223Cys) | gnomAD v4 |
14 | g.24081274C= | CA2123777236 | NRL | c.676G= (p.Gly226=) c.259G= (p.Gly87=) c.775G= (p.Gly259=) c.460G= (p.Gly154=) c.361G= (p.Gly121=) c.982G= (p.Gly328=) c.667G= (p.Gly223=) | |
14 | g.24081274C>G | CA389276219 | NRL | c.676G>C (p.Gly226Arg) c.259G>C (p.Gly87Arg) c.775G>C (p.Gly259Arg) c.460G>C (p.Gly154Arg) c.361G>C (p.Gly121Arg) c.982G>C (p.Gly328Arg) c.667G>C (p.Gly223Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081274C>T | CA389276217 | NRL | c.676G>A (p.Gly226Ser) c.259G>A (p.Gly87Ser) c.775G>A (p.Gly259Ser) c.460G>A (p.Gly154Ser) c.361G>A (p.Gly121Ser) c.982G>A (p.Gly328Ser) c.667G>A (p.Gly223Ser) | dbSNP gnomAD v4 |
14 | g.24081275G>A | CA7122815 | NRL | c.675C>T (p.Ser225=) c.258C>T (p.Ser86=) c.774C>T (p.Ser258=) c.459C>T (p.Ser153=) c.360C>T (p.Ser120=) c.981C>T (p.Ser327=) c.666C>T (p.Ser222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081275G>C | CA389276225 | NRL | c.675C>G (p.Ser225Arg) c.258C>G (p.Ser86Arg) c.774C>G (p.Ser258Arg) c.459C>G (p.Ser153Arg) c.360C>G (p.Ser120Arg) c.981C>G (p.Ser327Arg) c.666C>G (p.Ser222Arg) | |
14 | g.24081275G= | CA2123777240 | NRL | c.675C= (p.Ser225=) c.258C= (p.Ser86=) c.774C= (p.Ser258=) c.459C= (p.Ser153=) c.360C= (p.Ser120=) c.981C= (p.Ser327=) c.666C= (p.Ser222=) | |
14 | g.24081275G>T | CA389276224 | NRL | c.675C>A (p.Ser225Arg) c.258C>A (p.Ser86Arg) c.774C>A (p.Ser258Arg) c.459C>A (p.Ser153Arg) c.360C>A (p.Ser120Arg) c.981C>A (p.Ser327Arg) c.666C>A (p.Ser222Arg) | gnomAD v4 |
14 | g.24081276C>A | CA389276226 | NRL | c.674G>T (p.Ser225Ile) c.257G>T (p.Ser86Ile) c.773G>T (p.Ser258Ile) c.458G>T (p.Ser153Ile) c.359G>T (p.Ser120Ile) c.980G>T (p.Ser327Ile) c.665G>T (p.Ser222Ile) | gnomAD v4 |
14 | g.24081276C= | CA2123777248 | NRL | c.674G= (p.Ser225=) c.257G= (p.Ser86=) c.773G= (p.Ser258=) c.458G= (p.Ser153=) c.359G= (p.Ser120=) c.980G= (p.Ser327=) c.665G= (p.Ser222=) | |
14 | g.24081276C>G | CA389276227 | NRL | c.674G>C (p.Ser225Thr) c.257G>C (p.Ser86Thr) c.773G>C (p.Ser258Thr) c.458G>C (p.Ser153Thr) c.359G>C (p.Ser120Thr) c.980G>C (p.Ser327Thr) c.665G>C (p.Ser222Thr) | |
14 | g.24081276C>T | CA389276228 | NRL | c.674G>A (p.Ser225Asn) c.257G>A (p.Ser86Asn) c.773G>A (p.Ser258Asn) c.458G>A (p.Ser153Asn) c.359G>A (p.Ser120Asn) c.980G>A (p.Ser327Asn) c.665G>A (p.Ser222Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081277T>A | CA389276234 | NRL | c.673A>T (p.Ser225Cys) c.256A>T (p.Ser86Cys) c.772A>T (p.Ser258Cys) c.457A>T (p.Ser153Cys) c.358A>T (p.Ser120Cys) c.979A>T (p.Ser327Cys) c.664A>T (p.Ser222Cys) | |
14 | g.24081277T>C | CA389276237 | NRL | c.673A>G (p.Ser225Gly) c.256A>G (p.Ser86Gly) c.772A>G (p.Ser258Gly) c.457A>G (p.Ser153Gly) c.358A>G (p.Ser120Gly) c.979A>G (p.Ser327Gly) c.664A>G (p.Ser222Gly) | gnomAD v4 |
14 | g.24081277T>G | CA389276240 | NRL | c.673A>C (p.Ser225Arg) c.256A>C (p.Ser86Arg) c.772A>C (p.Ser258Arg) c.457A>C (p.Ser153Arg) c.358A>C (p.Ser120Arg) c.979A>C (p.Ser327Arg) c.664A>C (p.Ser222Arg) | |
14 | g.24081277_24081278insA | CA2800892056 | NRL | c.672_673insT (p.Ser225Ter) c.255_256insT (p.Ser86Ter) c.771_772insT (p.Ser258Ter) c.456_457insT (p.Ser153Ter) c.357_358insT (p.Ser120Ter) c.978_979insT (p.Ser327Ter) c.663_664insT (p.Ser222Ter) | |
14 | g.24081278C>A | CA485775446 | NRL | c.672G>T (p.Ser224=) c.255G>T (p.Ser85=) c.771G>T (p.Ser257=) c.456G>T (p.Ser152=) c.357G>T (p.Ser119=) c.978G>T (p.Ser326=) c.663G>T (p.Ser221=) | gnomAD v4 |
14 | g.24081278C= | CA2123777251 | NRL | c.672G= (p.Ser224=) c.255G= (p.Ser85=) c.771G= (p.Ser257=) c.456G= (p.Ser152=) c.357G= (p.Ser119=) c.978G= (p.Ser326=) c.663G= (p.Ser221=) | |
14 | g.24081278C>G | CA485775447 | NRL | c.672G>C (p.Ser224=) c.255G>C (p.Ser85=) c.771G>C (p.Ser257=) c.456G>C (p.Ser152=) c.357G>C (p.Ser119=) c.978G>C (p.Ser326=) c.663G>C (p.Ser221=) | dbSNP |
14 | g.24081278C>T | CA485775448 | NRL | c.672G>A (p.Ser224=) c.255G>A (p.Ser85=) c.771G>A (p.Ser257=) c.456G>A (p.Ser152=) c.357G>A (p.Ser119=) c.978G>A (p.Ser326=) c.663G>A (p.Ser221=) | |
14 | g.24081279G>A | CA389276243 | NRL | c.671C>T (p.Ser224Leu) c.254C>T (p.Ser85Leu) c.770C>T (p.Ser257Leu) c.455C>T (p.Ser152Leu) c.356C>T (p.Ser119Leu) c.977C>T (p.Ser326Leu) c.662C>T (p.Ser221Leu) | gnomAD v4 |
14 | g.24081279G>C | CA389276245 | NRL | c.671C>G (p.Ser224Trp) c.254C>G (p.Ser85Trp) c.770C>G (p.Ser257Trp) c.455C>G (p.Ser152Trp) c.356C>G (p.Ser119Trp) c.977C>G (p.Ser326Trp) c.662C>G (p.Ser221Trp) | ClinVar |
14 | g.24081279G= | CA2123777257 | NRL | c.671C= (p.Ser224=) c.254C= (p.Ser85=) c.770C= (p.Ser257=) c.455C= (p.Ser152=) c.356C= (p.Ser119=) c.977C= (p.Ser326=) c.662C= (p.Ser221=) | |
14 | g.24081279G>T | CA389276253 | NRL | c.671C>A (p.Ser224Ter) c.254C>A (p.Ser85Ter) c.770C>A (p.Ser257Ter) c.455C>A (p.Ser152Ter) c.356C>A (p.Ser119Ter) c.977C>A (p.Ser326Ter) c.662C>A (p.Ser221Ter) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24081280A= | CA2123777258 | NRL | c.670T= (p.Ser224=) c.253T= (p.Ser85=) c.769T= (p.Ser257=) c.454T= (p.Ser152=) c.355T= (p.Ser119=) c.976T= (p.Ser326=) c.661T= (p.Ser221=) | |
14 | g.24081280A>C | CA389276257 | NRL | c.670T>G (p.Ser224Ala) c.253T>G (p.Ser85Ala) c.769T>G (p.Ser257Ala) c.454T>G (p.Ser152Ala) c.355T>G (p.Ser119Ala) c.976T>G (p.Ser326Ala) c.661T>G (p.Ser221Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24081280A>G | CA389276271 | NRL | c.670T>C (p.Ser224Pro) c.253T>C (p.Ser85Pro) c.769T>C (p.Ser257Pro) c.454T>C (p.Ser152Pro) c.355T>C (p.Ser119Pro) c.976T>C (p.Ser326Pro) c.661T>C (p.Ser221Pro) | gnomAD v4 |
14 | g.24081280A>T | CA389276273 | NRL | c.670T>A (p.Ser224Thr) c.253T>A (p.Ser85Thr) c.769T>A (p.Ser257Thr) c.454T>A (p.Ser152Thr) c.355T>A (p.Ser119Thr) c.976T>A (p.Ser326Thr) c.661T>A (p.Ser221Thr) | gnomAD v4 |
14 | g.24081281G>A | CA485775449 | NRL | c.669C>T (p.Thr223=) c.252C>T (p.Thr84=) c.768C>T (p.Thr256=) c.453C>T (p.Thr151=) c.354C>T (p.Thr118=) c.975C>T (p.Thr325=) c.660C>T (p.Thr220=) | dbSNP gnomAD v4 |
14 | g.24081281G>C | CA485775450 | NRL | c.669C>G (p.Thr223=) c.252C>G (p.Thr84=) c.768C>G (p.Thr256=) c.453C>G (p.Thr151=) c.354C>G (p.Thr118=) c.975C>G (p.Thr325=) c.660C>G (p.Thr220=) | |
14 | g.24081281G= | CA2123777261 | NRL | c.669C= (p.Thr223=) c.252C= (p.Thr84=) c.768C= (p.Thr256=) c.453C= (p.Thr151=) c.354C= (p.Thr118=) c.975C= (p.Thr325=) c.660C= (p.Thr220=) | |
14 | g.24081281G>T | CA485775451 | NRL | c.669C>A (p.Thr223=) c.252C>A (p.Thr84=) c.768C>A (p.Thr256=) c.453C>A (p.Thr151=) c.354C>A (p.Thr118=) c.975C>A (p.Thr325=) c.660C>A (p.Thr220=) | gnomAD v4 |
14 | g.24081282G>A | CA7122816 | NRL | c.668C>T (p.Thr223Ile) c.251C>T (p.Thr84Ile) c.767C>T (p.Thr256Ile) c.452C>T (p.Thr151Ile) c.353C>T (p.Thr118Ile) c.974C>T (p.Thr325Ile) c.659C>T (p.Thr220Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24081282G>C | CA389276274 | NRL | c.668C>G (p.Thr223Ser) c.251C>G (p.Thr84Ser) c.767C>G (p.Thr256Ser) c.452C>G (p.Thr151Ser) c.353C>G (p.Thr118Ser) c.974C>G (p.Thr325Ser) c.659C>G (p.Thr220Ser) | gnomAD v4 |
14 | g.24081282G= | CA2123777269 | NRL | c.668C= (p.Thr223=) c.251C= (p.Thr84=) c.767C= (p.Thr256=) c.452C= (p.Thr151=) c.353C= (p.Thr118=) c.974C= (p.Thr325=) c.659C= (p.Thr220=) | |
14 | g.24081282G>T | CA389276275 | NRL | c.668C>A (p.Thr223Asn) c.251C>A (p.Thr84Asn) c.767C>A (p.Thr256Asn) c.452C>A (p.Thr151Asn) c.353C>A (p.Thr118Asn) c.974C>A (p.Thr325Asn) c.659C>A (p.Thr220Asn) | dbSNP gnomAD v3 gnomAD v4 |