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TP53
基本情報
- 遺伝子名
-
tumor protein p53
- 慣用名
-
BCC7, BMFS5, LFS1, P53, TRP53
- 遺伝子分類
-
がん遺伝子 / がん抑制遺伝子
- 遺伝子ID
- 転写産物ID
- 機能分類
-
ゲノム安定性の維持
- シグナル伝達経路
-
TP53
- 染色体上の位置 (GRCh37/hg19)
-
17p13.1 (chr17:7572927..7579912, complement)
- アミノ酸配列の長さ
-
393
遺伝子マップ
解説
TP53はDNAの損傷をはじめとする細胞ストレスにより活性化される転写制御因子であり、下流の遺伝子の発現を制御することで細胞分裂の停止、DNA修復の活性化、そしてアポトーシスの誘導を行う。ヒトのがんにおいて、最も高頻度にバリアントが検出される遺伝子であり、DNA結合ドメイン内 (102～292番目のアミノ酸)に機能喪失型のミスセンスバリアントが多く認められ、特に175, 245, 248, 273, 282番目のアミノ酸はホットスポットとして知られている。生殖細胞系列バリアントは、若年性そして多発性に多種多様ながん種を発症する常染色体優性遺伝の疾患であるリ・フラウメニ症候群 (Li-Fraumeni Syndrome: LFS) との関連が知られている。
シグナル伝達経路
遺伝子変異総量（Tumor Mutation Burden）の分布TMB
アミノ酸配列上の変異分布
- 低悪性度
神経膠腫 - 多形膠芽腫
- 髄膜腫
- 頭頸部
扁平上皮癌 - 唾液腺癌
- 食道扁平上皮癌
- 胃腺癌
- 小腸癌
- 結腸腺癌
- 直腸腺癌
- 肝細胞癌
- 胆管癌
- 膵腺癌
- 肺腺癌
- 肺扁平上皮癌
- 肺
神経内分泌腫瘍 - 胸膜中皮腫
- 胸腺腫
- 浸潤性乳管癌
- 浸潤性小葉癌
- 化生癌
- 骨肉腫
- 消化管間質腫瘍
- 軟部肉腫
- 子宮頸癌
- 子宮類内膜腺癌
- 上皮性卵巣癌
- 淡明細胞型
腎細胞癌 - 悪性黒色腫
- 有棘細胞癌
ドライバー変異リスト
| 参照配列上の 位置 (GRCh37/hg19) |
参照配列の塩基 | 変異の塩基 | 変異が位置するエクソン番号 | 変異 (アミノ酸 変化) |
変異 (CDS 変化) |
COSMIC登録ID (v92) | がん化との 関連度による 分類 |
変異が検出されたサンプル数 |
|---|---|---|---|---|---|---|---|---|
| chr17:7579707 | TTG | T | 3 / 11 | p.N29fs | c.87_88delCA | COSV53495060 | Tier2 | 1 / 2111 |
| chr17:7578555 | C | T | 4 / 11 | c.376-1G>A | COSV52688618 | Tier2 | 5 / 2111 | |
| chr17:7578555 | C | G | 4 / 11 | c.376-1G>C | COSV52996344 | Tier2 | 1 / 2111 | |
| chr17:7578555 | C | A | 4 / 11 | c.376-1G>T | COSV52749979 | Tier2 | 1 / 2111 | |
| chr17:7578556 | T | C | 4 / 11 | c.376-2A>G | COSV52689235 | Tier2 | 6 / 2111 | |
| chr17:7578556 | T | A | 4 / 11 | c.376-2A>T | COSV52691326 | Tier2 | 1 / 2111 | |
| chr17:7579309 | GACCGTGCAAGTC | G | 4 / 11 | p.C124fs | c.366_375+2delGACTTGCACGGT | Tier2 | 1 / 2111 | |
| chr17:7579310 | A | G | 4 / 11 | c.375+2T>C | COSV52664353 | Tier2 | 3 / 2111 | |
| chr17:7579310 | A | T | 4 / 11 | c.375+2T>A | COSV52663814 | Tier2 | 1 / 2111 | |
| chr17:7579311 | C | T | 4 / 11 | c.375+1G>A | COSV52663569 | Tier2 | 5 / 2111 | |
| chr17:7579311 | C | G | 4 / 11 | c.375+1G>C | COSV52668477 | Tier2 | 2 / 2111 | |
| chr17:7579312 | C | T | 4 / 11 | p.T125T | c.375G>A | COSV52718605 | Tier2 | 8 / 2111 |
| chr17:7579312 | C | A | 4 / 11 | p.T125T | c.375G>T | COSV52665709 | Tier2 | 6 / 2111 |
| chr17:7579312 | C | G | 4 / 11 | p.T125T | c.375G>C | COSV53120615 | Tier2 | 2 / 2111 |
| chr17:7579313 | G | A | 4 / 11 | p.T125M | c.374C>T | COSV52673504 | Tier2 | 6 / 2111 |
| chr17:7579313 | G | C | 4 / 11 | p.T125R | c.374C>G | COSV52688693 | Tier2 | 2 / 2111 |
| chr17:7579313 | G | T | 4 / 11 | p.T125K | c.374C>A | COSV52667346 | Tier2 | 1 / 2111 |
| chr17:7579315 | G | T | 4 / 11 | p.C124* | c.372C>A | COSV52944837 | Tier2 | 3 / 2111 |
| chr17:7579320 | TCA | T | 4 / 11 | p.V122fs | c.365_366delTG | COSV52686027 | Tier2 | 4 / 2111 |
| chr17:7579322 | AC | A | 4 / 11 | p.V122fs | c.364delG | Tier2 | 1 / 2111 | |
| chr17:7579329 | T | C | 4 / 11 | p.K120E | c.358A>G | COSV52692352 | Tier1 | 1 / 2111 |
| chr17:7579331 | GCTGTC | G | 4 / 11 | p.T118fs | c.351_355delGACAG | Tier2 | 1 / 2111 | |
| chr17:7579334 | GT | G | 4 / 11 | p.T118fs | c.352delA | COSV53087696 | Tier2 | 1 / 2111 |
| chr17:7579339 | AGAATGCAAGAAGCCCAGAC | A | 4 / 11 | p.R110fs | c.329_347delGTCTGGGCTTCTTGCATTC | Tier2 | 1 / 2111 | |
| chr17:7579344 | G | GC | 4 / 11 | p.H115fs | c.342dupG | COSV52923620 | Tier2 | 1 / 2111 |
| chr17:7579353 | CCA | C | 4 / 11 | p.L111fs | c.332_333delTG | COSV52832180 | Tier2 | 1 / 2111 |
| chr17:7579355 | A | T | 4 / 11 | p.L111Q | c.332T>A | COSV52699193 | Tier2 | 5 / 2111 |
| chr17:7579355 | A | C | 4 / 11 | p.L111R | c.332T>G | COSV52676090 | Tier2 | 2 / 2111 |
| chr17:7579357 | ACGGAAAC | A | 4 / 11 | p.G108fs | c.323_329delGTTTCCG | COSV53245023 | Tier2 | 1 / 2111 |
| chr17:7579358 | C | A | 4 / 11 | p.R110L | c.329G>T | COSV52662399 | Tier2 | 11 / 2111 |
| chr17:7579358 | CG | C | 4 / 11 | p.R110fs | c.328delC | COSV52762007 | Tier2 | 2 / 2111 |
| chr17:7579371 | T | TG | 4 / 11 | p.S106fs | c.315dupC | Tier2 | 1 / 2111 | |
| chr17:7579377 | G | A | 4 / 11 | p.Q104* | c.310C>T | COSV52694629 | Tier2 | 3 / 2111 |
| chr17:7579377 | GGTAGGTTT | G | 4 / 11 | p.K101fs | c.302_309delAAACCTAC | Tier2 | 1 / 2111 | |
| chr17:7579378 | G | C | 4 / 11 | p.Y103* | c.309C>G | COSV52776039 | Tier2 | 1 / 2111 |
| chr17:7579378 | G | T | 4 / 11 | p.Y103* | c.309C>A | COSV52663474 | Tier2 | 1 / 2111 |
| chr17:7579389 | G | A | 4 / 11 | p.Q100* | c.298C>T | COSV52702138 | Tier2 | 2 / 2111 |
| chr17:7579396 | GAC | G | 4 / 11 | p.V97fs | c.289_290delGT | Tier2 | 1 / 2111 | |
| chr17:7579400 | GAA | G | 4 / 11 | p.S96fs | c.285_286delTT | COSV104581948 | Tier2 | 1 / 2111 |
| chr17:7579406 | G | T | 4 / 11 | p.S94* | c.281C>A | COSV52677652 | Tier2 | 1 / 2111 |
| chr17:7579407 | ACAGGGGC | A | 4 / 11 | p.W91fs | c.273_279delGCCCCTG | Tier2 | 1 / 2111 | |
| chr17:7579407 | ACAGGGGCCAGGAGGGGGCTGGTG | A | 4 / 11 | p.A86fs | c.257_279delCACCAGCCCCCTCCTGGCCCCTG | COSV52813733 | Tier2 | 1 / 2111 |
| chr17:7579408 | CAG | C | 4 / 11 | p.L93fs | c.277_278delCT | COSV52989547 | Tier2 | 1 / 2111 |
| chr17:7579411 | G | GGGCCAGGA | 4 / 11 | p.L93fs | c.268_275dupTCCTGGCC | Tier2 | 1 / 2111 | |
| chr17:7579414 | C | T | 4 / 11 | p.W91* | c.273G>A | COSV52673580 | Tier2 | 3 / 2111 |
| chr17:7579415 | C | T | 4 / 11 | p.W91* | c.272G>A | COSV52734595 | Tier2 | 1 / 2111 |
| chr17:7579431 | C | CA | 4 / 11 | p.A86fs | c.255dupT | COSV104581950 | Tier2 | 1 / 2111 |
| chr17:7579439 | GC | G | 4 / 11 | p.A83fs | c.247delG | COSV52972073 | Tier2 | 1 / 2111 |
| chr17:7579445 | G | GT | 4 / 11 | p.T81fs | c.241dupA | COSV52997703 | Tier2 | 1 / 2111 |
| chr17:7579452 | CT | C | 4 / 11 | p.A79fs | c.234delA | Tier2 | 1 / 2111 | |
| chr17:7579465 | G | GT | 4 / 11 | p.A76fs | c.221_222insA | Tier2 | 1 / 2111 | |
| chr17:7579480 | AG | A | 4 / 11 | p.A69fs | c.206delC | COSV53876381 | Tier2 | 1 / 2111 |
| chr17:7579494 | T | A | 4 / 11 | p.R65* | c.193A>T | COSV52689560 | Tier2 | 1 / 2111 |
| chr17:7579503 | C | A | 4 / 11 | p.E62* | c.184G>T | COSV52811974 | Tier2 | 1 / 2111 |
| chr17:7579521 | C | A | 4 / 11 | p.E56* | c.166G>T | COSV52883452 | Tier2 | 1 / 2111 |
| chr17:7579528 | C | T | 4 / 11 | p.W53* | c.159G>A | COSV52751414 | Tier2 | 2 / 2111 |
| chr17:7579529 | C | T | 4 / 11 | p.W53* | c.158G>A | COSV52774899 | Tier2 | 1 / 2111 |
| chr17:7579536 | C | A | 4 / 11 | p.E51* | c.151G>T | COSV52694020 | Tier2 | 2 / 2111 |
| chr17:7579538 | AT | A | 4 / 11 | p.I50fs | c.148delA | Tier2 | 1 / 2111 | |
| chr17:7579544 | TCC | T | 4 / 11 | p.D48fs | c.141_142delGG | Tier2 | 1 / 2111 | |
| chr17:7579544 | TC | T | 4 / 11 | p.D48fs | c.142delG | COSV53225368 | Tier2 | 1 / 2111 |
| chr17:7579546 | CGGGGACAGCATCAAATCATCCATTGCTTG | C | 4 / 11 | p.Q38fs | c.112_140delCAAGCAATGGATGATTTGATGCTGTCCCC | Tier2 | 1 / 2111 | |
| chr17:7579549 | GGACAGCAT | G | 4 / 11 | p.M44fs | c.130_137delATGCTGTC | Tier2 | 1 / 2111 | |
| chr17:7579552 | CA | C | 4 / 11 | p.L45fs | c.134delT | Tier2 | 1 / 2111 | |
| chr17:7579555 | C | CATCAA | 4 / 11 | p.M44fs | c.127_131dupTTGAT | Tier2 | 2 / 2111 | |
| chr17:7579559 | A | T | 4 / 11 | p.L43* | c.128T>A | COSV52992944 | Tier2 | 2 / 2111 |
| chr17:7579563 | C | CTT | 4 / 11 | p.D42fs | c.123_124insAA | Tier2 | 1 / 2111 | |
| chr17:7579563 | CAT | C | 4 / 11 | p.D41fs | c.122_123delAT | Tier2 | 1 / 2111 | |
| chr17:7579575 | G | A | 4 / 11 | p.Q38* | c.112C>T | COSV52689258 | Tier2 | 1 / 2111 |
| chr17:7579582 | CAA | C | 4 / 11 | p.L35fs | c.103_104delTT | Tier2 | 1 / 2111 | |
| chr17:7579583 | A | T | 4 / 11 | p.L35* | c.104T>A | COSV52728232 | Tier2 | 1 / 2111 |
| chr17:7579588 | G | GA | 4 / 11 | p.P36fs | c.98_99insT | COSV52779808 | Tier2 | 1 / 2111 |
| chr17:7578290 | C | T | 5 / 11 | c.560-1G>A | COSV52662318 | Tier2 | 2 / 2111 | |
| chr17:7578290 | C | A | 5 / 11 | c.560-1G>T | COSV52676510 | Tier2 | 3 / 2111 | |
| chr17:7578290 | C | G | 5 / 11 | c.560-1G>C | COSV52690533 | Tier2 | 1 / 2111 | |
| chr17:7578291 | T | G | 5 / 11 | c.560-2A>C | COSV52685228 | Tier2 | 3 / 2111 | |
| chr17:7578363 | CTGCTCACCATCGCTA | C | 5 / 11 | p.D184fs | c.552_559+7delTAGCGATGGTGAGCA | Tier2 | 1 / 2111 | |
| chr17:7578369 | A | C | 5 / 11 | c.559+2T>G | COSV52900265 | Tier2 | 3 / 2111 | |
| chr17:7578369 | A | G | 5 / 11 | c.559+2T>C | COSV53486980 | Tier2 | 2 / 2111 | |
| chr17:7578369 | A | T | 5 / 11 | c.559+2T>A | COSV52709511 | Tier2 | 1 / 2111 | |
| chr17:7578370 | C | T | 5 / 11 | c.559+1G>A | COSV52670017 | Tier2 | 5 / 2111 | |
| chr17:7578370 | C | A | 5 / 11 | c.559+1G>T | COSV52695669 | Tier2 | 1 / 2111 | |
| chr17:7578375 | GCTAT | G | 5 / 11 | p.D184fs | c.551_554delATAG | COSV53347129 | Tier2 | 1 / 2111 |
| chr17:7578377 | TA | T | 5 / 11 | p.D184fs | c.552delT | Tier2 | 1 / 2111 | |
| chr17:7578378 | AT | A | 5 / 11 | p.D184fs | c.551delA | COSV53082292 | Tier2 | 1 / 2111 |
| chr17:7578382 | G | C | 5 / 11 | p.S183* | c.548C>G | COSV52662121 | Tier2 | 1 / 2111 |
| chr17:7578382 | G | T | 5 / 11 | p.S183* | c.548C>A | COSV52858115 | Tier2 | 1 / 2111 |
| chr17:7578388 | C | G | 5 / 11 | p.R181P | c.542G>C | COSV52676870 | Tier2 | 2 / 2111 |
| chr17:7578388 | C | T | 5 / 11 | p.R181H | c.542G>A | COSV52675795 | Tier2 | 2 / 2111 |
| chr17:7578389 | G | A | 5 / 11 | p.R181C | c.541C>T | COSV52689134 | Tier2 | 1 / 2111 |
| chr17:7578392 | C | A | 5 / 11 | p.E180* | c.538G>T | COSV52694461 | Tier2 | 3 / 2111 |
| chr17:7578392 | C | T | 5 / 11 | p.E180K | c.538G>A | COSV52816009 | Tier2 | 1 / 2111 |
| chr17:7578393 | A | T | 5 / 11 | p.H179Q | c.537T>A | COSV52669519 | Tier2 | 2 / 2111 |
| chr17:7578394 | T | C | 5 / 11 | p.H179R | c.536A>G | COSV52661712 | Tier2 | 15 / 2111 |
| chr17:7578394 | T | A | 5 / 11 | p.H179L | c.536A>T | COSV52690692 | Tier1 | 1 / 2111 |
| chr17:7578395 | G | A | 5 / 11 | p.H179Y | c.535C>T | COSV52662617 | Tier2 | 6 / 2111 |
| chr17:7578395 | G | C | 5 / 11 | p.H179D | c.535C>G | COSV52668276 | Tier2 | 2 / 2111 |
| chr17:7578398 | G | C | 5 / 11 | p.H178D | c.532C>G | COSV52693338 | Tier2 | 1 / 2111 |
| chr17:7578402 | G | T | 5 / 11 | p.C176* | c.528C>A | COSV52701599 | Tier2 | 1 / 2111 |
| chr17:7578402 | G | C | 5 / 11 | p.C176W | c.528C>G | COSV52735850 | Tier2 | 1 / 2111 |
| chr17:7578403 | C | A | 5 / 11 | p.C176F | c.527G>T | COSV52661329 | Tier2 | 15 / 2111 |
| chr17:7578403 | C | T | 5 / 11 | p.C176Y | c.527G>A | COSV52660760 | Tier2 | 9 / 2111 |
| chr17:7578404 | A | G | 5 / 11 | p.C176R | c.526T>C | COSV52682539 | Tier2 | 1 / 2111 |
| chr17:7578406 | C | T | 5 / 11 | p.R175H | c.524G>A | COSV52661038 | Tier1 | 135 / 2111 |
| chr17:7578407 | G | C | 5 / 11 | p.R175G | c.523C>G | COSV52717943 | Tier2 | 1 / 2111 |
| chr17:7578411 | CA | C | 5 / 11 | p.V173fs | c.518delT | Tier2 | 1 / 2111 | |
| chr17:7578412 | A | G | 5 / 11 | p.V173A | c.518T>C | COSV52679619 | Tier2 | 2 / 2111 |
| chr17:7578413 | C | T | 5 / 11 | p.V173M | c.517G>A | COSV52677795 | Tier2 | 5 / 2111 |
| chr17:7578413 | C | A | 5 / 11 | p.V173L | c.517G>T | COSV52676535 | Tier2 | 4 / 2111 |
| chr17:7578413 | C | G | 5 / 11 | p.V173L | c.517G>C | COSV52695723 | Tier2 | 1 / 2111 |
| chr17:7578418 | TC | T | 5 / 11 | p.E171fs | c.511delG | COSV52796495 | Tier2 | 1 / 2111 |
| chr17:7578419 | C | A | 5 / 11 | p.E171* | c.511G>T | COSV52671445 | Tier2 | 4 / 2111 |
| chr17:7578427 | T | C | 5 / 11 | p.H168R | c.503A>G | COSV52698349 | Tier2 | 2 / 2111 |
| chr17:7578428 | G | GCT | 5 / 11 | p.H168fs | c.500_501dupAG | Tier2 | 1 / 2111 | |
| chr17:7578431 | G | A | 5 / 11 | p.Q167* | c.499C>T | COSV52735517 | Tier2 | 5 / 2111 |
| chr17:7578432 | T | TGACTG | 5 / 11 | p.Q167fs | c.493_497dupCAGTC | Tier2 | 1 / 2111 | |
| chr17:7578433 | G | T | 5 / 11 | p.S166* | c.497C>A | COSV52661795 | Tier2 | 1 / 2111 |
| chr17:7578437 | G | A | 5 / 11 | p.Q165* | c.493C>T | COSV52677910 | Tier2 | 10 / 2111 |
| chr17:7578440 | TG | T | 5 / 11 | p.Y163fs | c.489delC | COSV52741368 | Tier2 | 1 / 2111 |
| chr17:7578441 | G | C | 5 / 11 | p.Y163* | c.489C>G | COSV53211332 | Tier2 | 1 / 2111 |
| chr17:7578442 | T | C | 5 / 11 | p.Y163C | c.488A>G | COSV52663142 | Tier2 | 9 / 2111 |
| chr17:7578443 | A | G | 5 / 11 | p.Y163H | c.487T>C | COSV52661160 | Tier2 | 3 / 2111 |
| chr17:7578443 | A | C | 5 / 11 | p.Y163D | c.487T>G | COSV52853225 | Tier2 | 1 / 2111 |
| chr17:7578448 | GCCAT | G | 5 / 11 | p.M160fs | c.478_481delATGG | Tier2 | 1 / 2111 | |
| chr17:7578449 | C | T | 5 / 11 | p.A161T | c.481G>A | COSV52660939 | Tier2 | 5 / 2111 |
| chr17:7578452 | TG | T | 5 / 11 | p.M160fs | c.477delC | COSV52693942 | Tier2 | 1 / 2111 |
| chr17:7578453 | G | GGC | 5 / 11 | p.M160fs | c.475_476dupGC | Tier2 | 1 / 2111 | |
| chr17:7578453 | G | GC | 5 / 11 | p.M160fs | c.476_477insG | Tier2 | 1 / 2111 | |
| chr17:7578457 | C | T | 5 / 11 | p.R158H | c.473G>A | COSV52680378 | Tier2 | 11 / 2111 |
| chr17:7578457 | C | A | 5 / 11 | p.R158L | c.473G>T | COSV52676395 | Tier2 | 11 / 2111 |
| chr17:7578457 | CG | C | 5 / 11 | p.R158fs | c.472delC | COSV52921244 | Tier2 | 1 / 2111 |
| chr17:7578458 | G | A | 5 / 11 | p.R158C | c.472C>T | COSV52677865 | Tier2 | 1 / 2111 |
| chr17:7578460 | A | T | 5 / 11 | p.V157D | c.470T>A | COSV52699845 | Tier1 | 4 / 2111 |
| chr17:7578460 | A | AC | 5 / 11 | p.V157fs | c.469dupG | Tier2 | 1 / 2111 | |
| chr17:7578461 | C | A | 5 / 11 | p.V157F | c.469G>T | COSV52667015 | Tier1 | 11 / 2111 |
| chr17:7578463 | CGGGTGCCGGGCGG | C | 5 / 11 | p.P152fs | c.454_466delCCGCCCGGCACCC | COSV52793232 | Tier2 | 1 / 2111 |
| chr17:7578469 | CCGGGCGGGGGT | C | 5 / 11 | p.P151fs | c.450_460delACCCCCGCCCG | Tier2 | 1 / 2111 | |
| chr17:7578469 | CCGGGCGGGGGTGT | C | 5 / 11 | p.T150fs | c.448_460delACACCCCCGCCCG | COSV52702198 | Tier2 | 1 / 2111 |
| chr17:7578470 | CG | C | 5 / 11 | p.G154fs | c.459delC | COSV53030246|COSV53217712 | Tier2 | 1 / 2111 |
| chr17:7578475 | G | A | 5 / 11 | p.P152L | c.455C>T | COSV52666949 | Tier2 | 11 / 2111 |
| chr17:7578479 | G | A | 5 / 11 | p.P151S | c.451C>T | COSV52661698 | Tier1 | 7 / 2111 |
| chr17:7578479 | G | T | 5 / 11 | p.P151T | c.451C>A | COSV52676321 | Tier1 | 1 / 2111 |
| chr17:7578479 | G | C | 5 / 11 | p.P151A | c.451C>G | COSV52701855 | Tier2 | 2 / 2111 |
| chr17:7578492 | C | T | 5 / 11 | p.W146* | c.438G>A | COSV52661500 | Tier2 | 7 / 2111 |
| chr17:7578493 | C | T | 5 / 11 | p.W146* | c.437G>A | COSV52661900 | Tier2 | 3 / 2111 |
| chr17:7578499 | T | G | 5 / 11 | p.Q144P | c.431A>C | COSV52661000 | Tier2 | 2 / 2111 |
| chr17:7578500 | G | A | 5 / 11 | p.Q144* | c.430C>T | COSV52662339 | Tier2 | 4 / 2111 |
| chr17:7578502 | A | G | 5 / 11 | p.V143A | c.428T>C | COSV52760297 | Tier2 | 1 / 2111 |
| chr17:7578502 | AC | A | 5 / 11 | p.V143fs | c.427delG | COSV53135444 | Tier2 | 1 / 2111 |
| chr17:7578506 | G | GT | 5 / 11 | p.P142fs | c.423_424insA | Tier2 | 1 / 2111 | |
| chr17:7578507 | G | C | 5 / 11 | p.C141W | c.423C>G | COSV52706449 | Tier2 | 2 / 2111 |
| chr17:7578508 | C | T | 5 / 11 | p.C141Y | c.422G>A | COSV52664953 | Tier2 | 5 / 2111 |
| chr17:7578509 | A | G | 5 / 11 | p.C141R | c.421T>C | COSV52675559 | Tier2 | 2 / 2111 |
| chr17:7578515 | TG | T | 5 / 11 | p.K139fs | c.414delC | COSV52708439 | Tier2 | 1 / 2111 |
| chr17:7578515 | T | A | 5 / 11 | p.K139* | c.415A>T | COSV52698907 | Tier2 | 1 / 2111 |
| chr17:7578517 | GC | G | 5 / 11 | p.A138fs | c.412delG | COSV52688445 | Tier2 | 1 / 2111 |
| chr17:7578524 | G | A | 5 / 11 | p.Q136* | c.406C>T | COSV52676850 | Tier2 | 6 / 2111 |
| chr17:7578525 | G | T | 5 / 11 | p.C135* | c.405C>A | COSV52665429 | Tier2 | 1 / 2111 |
| chr17:7578525 | G | C | 5 / 11 | p.C135W | c.405C>G | COSV52669330 | Tier2 | 1 / 2111 |
| chr17:7578526 | C | A | 5 / 11 | p.C135F | c.404G>T | COSV52680475 | Tier2 | 9 / 2111 |
| chr17:7578526 | C | T | 5 / 11 | p.C135Y | c.404G>A | COSV52675774 | Tier2 | 8 / 2111 |
| chr17:7578527 | A | C | 5 / 11 | p.C135G | c.403T>G | COSV52827707 | Tier2 | 1 / 2111 |
| chr17:7578530 | ACATCTTGTTGAGGG | A | 5 / 11 | p.A129fs | c.386_399delCCCTCAACAAGATG | Tier2 | 1 / 2111 | |
| chr17:7578530 | AC | A | 5 / 11 | p.M133fs | c.399delG | Tier2 | 1 / 2111 | |
| chr17:7578531 | CATCTTGT | C | 5 / 11 | p.N131fs | c.392_398delACAAGAT | Tier2 | 1 / 2111 | |
| chr17:7578531 | CATCTTGTTGA | C | 5 / 11 | p.L130fs | c.389_398delTCAACAAGAT | Tier2 | 1 / 2111 | |
| chr17:7578532 | ATCTTGTTGAGGGCAGGGGAGTACTGTAG | A | 5 / 11 | p.Y126fs | c.376-6_397delCTACAGTACTCCCCTGCCCTCAACAAGA | Tier2 | 1 / 2111 | |
| chr17:7578534 | C | G | 5 / 11 | p.K132N | c.396G>C | COSV52688381 | Tier2 | 2 / 2111 |
| chr17:7578534 | C | A | 5 / 11 | p.K132N | c.396G>T | COSV52705927 | Tier2 | 2 / 2111 |
| chr17:7578534 | C | CT | 5 / 11 | p.M133fs | c.395dupA | COSV53104865 | Tier2 | 1 / 2111 |
| chr17:7578535 | T | A | 5 / 11 | p.K132M | c.395A>T | COSV52701687 | Tier2 | 1 / 2111 |
| chr17:7578535 | T | C | 5 / 11 | p.K132R | c.395A>G | COSV52666637 | Tier2 | 7 / 2111 |
| chr17:7578536 | T | A | 5 / 11 | p.K132* | c.394A>T | COSV52979406 | Tier2 | 1 / 2111 |
| chr17:7578536 | T | C | 5 / 11 | p.K132E | c.394A>G | COSV52689323 | Tier2 | 1 / 2111 |
| chr17:7578538 | TTGAGGGCAGGG | T | 5 / 11 | p.P128fs | c.381_391delCCCTGCCCTCA | Tier2 | 1 / 2111 | |
| chr17:7578552 | G | T | 5 / 11 | p.Y126* | c.378C>A | COSV52757878 | Tier2 | 1 / 2111 |
| chr17:7578553 | T | TA | 5 / 11 | p.Y126fs | c.376dupT | Tier2 | 1 / 2111 | |
| chr17:7577609 | C | A | 6 / 11 | c.673-1G>T | COSV52705331 | Tier2 | 3 / 2111 | |
| chr17:7577609 | C | T | 6 / 11 | c.673-1G>A | COSV52662773 | Tier2 | 3 / 2111 | |
| chr17:7577610 | T | C | 6 / 11 | c.673-2A>G | COSV52682653 | Tier2 | 5 / 2111 | |
| chr17:7577610 | T | A | 6 / 11 | c.673-2A>T | COSV52669186 | Tier2 | 1 / 2111 | |
| chr17:7577610 | T | G | 6 / 11 | c.673-2A>C | COSV52687702 | Tier2 | 1 / 2111 | |
| chr17:7578175 | A | T | 6 / 11 | c.672+2T>A | COSV52797769 | Tier2 | 1 / 2111 | |
| chr17:7578175 | A | G | 6 / 11 | c.672+2T>C | COSV52677962 | Tier2 | 1 / 2111 | |