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未分離変異体リクエスト

ここでは、全ゲノムシークエンス(WGS)の結果から存在すると予想されたものの、未だ単離できていないアリルのリクエストが可能です。ただし確実に単離できるとは限りませんので、その点ご了承ください。単離の可否につきましては、ご注文後に中核機関にてチェックした結果をeメールにてご連絡します。
単離できた場合は、同時に支払い請求書をPDFファイルとしてお送りしますので、同ファイル上のリンクよりお支払い手続きをお願いします。入金が確認でき次第、変異体の送付を行います。（※お支払い方法は、クレジットカードによるお支払いにのみ対応しています）		 Last Update 2023-07-07
Variant IDSequence NameGene NameVariant TypeImpact Evaluated by Ensembl VEP program. GenotypeMutation SiteChromosomeMap PositionDepositorRequest
var_00000018 F56C11.3 F56C11.3 Substitution (Missense F56C11.3.1:S15N) MODERATE Homo 36194-T-36196(1 bp substitution) I -19.1359 Dr. S. Mitani
var_00000034 W04C9.4 W04C9.4 Substitution (Missense W04C9.4.1:A103T) MODERATE Homo 668-A-670(1 bp substitution) I -19.0312 Dr. S. Mitani
var_00000060 Y18H1A.6 pif-1 Substitution (Missense Y18H1A.6a.1:S36Y) MODERATE Homo 49693-AT-49696(2 bp substitution) I -18.5478 Dr. S. Mitani
var_00000076 Y95B8A.12 prhg-1 Deletion (FrameShift ) HIGH Homo 68070/68071-68071/68072(1 bp deletion) I -17.7334 Dr. S. Mitani
var_00000079 Y95B8A.1 nas-30 Substitution (Missense Y95B8A.1a.1:Y145F) MODERATE Homo 99168-T-99170(1 bp substitution) I -17.6193 Dr. S. Mitani
var_00000091 Y34D9A.4 spd-1 Substitution (Missense Y34D9A.4.1:P218S) MODERATE Homo 14553-A-14555(1 bp substitution) I -17.3859 Dr. S. Mitani
var_00000093 Y34D9A.10 Y34D9A.2 vps-4 npr-23 Substitution (Missense Y34D9A.2.1:I36T) MODERATE Homo 44428-C-44430(1 bp substitution) I -17.0622 Dr. S. Mitani
var_00000110 Y48G8AL.10 znf-236 Substitution (Missense Y48G8AL.10a.1:I188F) MODERATE Homo 21313-A-21315(1 bp substitution) I -16.9385 Dr. S. Mitani
var_00000137 Y73E7A.9 adpr-1 Substitution (Missense Y73E7A.9a.1:S290L;Y73E7A.9b.1:S82L;Y73E7A.9c.1:S31L) MODERATE Homo 33021-T-33023(1 bp substitution) I -13.8714 Dr. S. Mitani
var_00000144 Y71G12B.11 tln-1 Substitution (Substitution ) LOW Homo 94616-T-94618(1 bp substitution) I -13.1715 Dr. S. Mitani
var_00000155 M01D7.9 M01D7.9 Substitution (Missense M01D7.9.1:V8E) MODERATE Homo 16319-T-16321(1 bp substitution) I -12.4972 Dr. S. Mitani
var_00000173 Y20F4.3 gap-3 Substitution (Missense Y20F4.3a.1:L739F;Y20F4.3b.1:L408F) MODERATE Homo 78697-A-78699(1 bp substitution) I -12.3729 Dr. S. Mitani
var_00000189 W03F11.1 ule-1 Substitution (Missense W03F11.1a.1:Y62D) MODERATE Homo 61081-C-61083(1 bp substitution) I -11.0185 Dr. S. Mitani
var_00000200 Y39G10AR.3 nekl-1 Substitution (Substitution ) LOW Homo 82670-A-82672(1 bp substitution) I -8.9254 Dr. S. Mitani
var_00000202 Y39G10AR.17 sydn-1 Substitution (Missense Y39G10AR.17.1:T49A) MODERATE Homo 99978-C-99980(1 bp substitution) I -8.8506 Dr. S. Mitani
var_00000223 K07A3.3 K07A3.3 Deletion (FrameShift ) HIGH Homo 25330/25331-25331/25332(1 bp deletion) I -8.21981 Dr. S. Mitani
var_00000233 Y71F9B.15 Y71F9B.15 Substitution (Missense Y71F9B.15.1:C17F) MODERATE Homo 82630-A-82632(1 bp substitution) I -6.88382 Dr. S. Mitani
var_00000241 Y71F9AL.17 copa-1 Substitution (Missense Y71F9AL.17.1:V916L) MODERATE Homo 36616-G-36618(1 bp substitution) I -5.3042 Dr. S. Mitani
var_00000260 Y54E10A.4 fog-1 Substitution (Substitution ) LOW Homo 51838-C-51840(1 bp substitution) I -4.473 Dr. S. Mitani
var_00000287 D1037.1 D1037.1 Substitution (Missense D1037.1.1:E110K) MODERATE Homo 24491-A-24493(1 bp substitution) I -2.89977 Dr. S. Mitani
var_00000298 C32E8.6 C32E8.13 C32E8.6 C32E8.13 Substitution (Missense C32E8.13.1:G45D) MODERATE Homo 4418-T-4420(1 bp substitution) I -2.61465 Dr. S. Mitani
var_00000305 F53F10.2 F53F10.2 Substitution (Missense F53F10.2a.2:D275E;F53F10.2a.1:D275E;F53F10.2a.3:D275E;F53F10.2a.4:D275E;F53F10.2a.5:D275E) MODERATE Homo 17806-A-17808(1 bp substitution) I -2.00379 Dr. S. Mitani
var_00000330 F55C7.7 unc-73 Deletion (FrameShift ) HIGH Homo 3704/3705-3742/3743(38 bp deletion) I -1.8788 Dr. S. Mitani
var_00000338 C09D1.1 unc-89 Substitution (Missense C09D1.1a.1:L2746R;C09D1.1e.1:L2106R;C09D1.1l.1:L2724R;C09D1.1o.1:L2746R;C09D1.1f.1:L2106R;C09D1.1k.1:L2724R;C09D1.1n.1:L2746R;C09D1.1b.1:L2746R;C09D1.1g.1:L2273R;C09D1.1i.1:L2251R;C09D1.1j.1:L1633R;C09D1.1p.1:L2273R) MODERATE Homo 36219-G-36221(1 bp substitution) I -1.7326 Dr. S. Mitani
var_00000339 C09D1.1 unc-89 Substitution (Missense C09D1.1a.1:Y5772H;C09D1.1e.1:Y5132H;C09D1.1l.1:Y5750H;C09D1.1o.1:Y5052H;C09D1.1f.1:Y5132H;C09D1.1k.1:Y5750H;C09D1.1m.1:Y5199H;C09D1.1n.1:Y5052H;C09D1.1b.1:Y5772H;C09D1.1g.1:Y5299H;C09D1.1h.1:Y4726H;C09D1.1i.1:Y5277H;C09D1.1j.1:Y4659H;C09D1.1p.1:Y4579H) MODERATE Homo 45772-C-45774(1 bp substitution) I -1.7326 Dr. S. Mitani
var_00000340 C09D1.1 unc-89 Substitution (Missense C09D1.1f.1:T7033I;C09D1.1k.1:T7651I;C09D1.1m.1:T7100I;C09D1.1n.1:T6953I;C09D1.1b.1:T7673I;C09D1.1g.1:T7200I;C09D1.1h.1:T6627I;C09D1.1i.1:T7178I;C09D1.1j.1:T6560I;C09D1.1p.1:T6480I;C09D1.1d.1:T988I;C09D1.1c.1:T985I) MODERATE Homo 63547-T-63549(1 bp substitution) I -1.7326 Dr. S. Mitani
var_00000342 C24G7.2 acd-1 Substitution (Missense C24G7.2.1:A283V) MODERATE Homo 40238-T-40240(1 bp substitution) I -1.7217 Dr. S. Mitani
var_00000345 R12E2.5 inx-16 Substitution (Missense R12E2.5.2:N257S;R12E2.5.1:N257S) MODERATE Homo 15947-G-15949(1 bp substitution) I -1.6705 Dr. S. Mitani
var_00000346 R12E2.3 rpn-8 Substitution (Missense R12E2.3.1:A140G) MODERATE Homo 28771-G-28773(1 bp substitution) I -1.6331 Dr. S. Mitani
var_00000349 C18E3.3 C18E3.3 Substitution (Missense C18E3.3.1:F616Y) MODERATE Homo 21980-A-21982(1 bp substitution) I -1.59991 Dr. S. Mitani
var_00000366 T21E12.4 dhc-1 Substitution (Missense T21E12.4a.1:Y1307N;T21E12.4b.1:Y375N) MODERATE Homo 4490-A-4492(1 bp substitution) I -1.3104 Dr. S. Mitani
var_00000376 Y119C1B.3 Y119C1B.3 Substitution (Missense Y119C1B.3.1:N385K;Y119C1B.3.2:N385K) MODERATE Homo 49416-A-49418(1 bp substitution) I -1.05506 Dr. S. Mitani
var_00000377 Y119C1B.3 Y119C1B.3 Substitution (Missense Y119C1B.3.1:P413T;Y119C1B.3.2:P413T) MODERATE Homo 49497-TA-49500(2 bp substitution) I -1.05506 Dr. S. Mitani
var_00000378 Y119C1B.10 Y119C1B.10 Substitution (Missense Y119C1B.10a.1:F23Y;Y119C1B.10b.1:F23Y) MODERATE Homo 53657-T-53659(1 bp substitution) I -1.05399 Dr. S. Mitani
var_00000383 C44E4.1 ubr-4 Deletion (FrameShift ) HIGH Homo 22564/22565-22596/22597(32 bp deletion) I -1.0374 Dr. S. Mitani
var_00000396 F57C9.4 F57C9.4 Substitution (Missense F57C9.4a.1:L129F;F57C9.4c.1:L129F;F57C9.4b.1:L129F) MODERATE Homo 8753-T-8755(1 bp substitution) I -0.7156 Dr. S. Mitani
var_00000399 C01F4.2 rga-6 Substitution (Missense C01F4.2a.1:R687I) MODERATE Homo 30593-A-30595(1 bp substitution) I -0.6959 Dr. S. Mitani
var_00000401 C01F4.2 rga-6 Substitution (Missense C01F4.2a.1:L117V;C01F4.2b.1:L117V) MODERATE Homo 16290-C-16292(1 bp substitution) I -0.6959 Dr. S. Mitani
var_00000402 C01F4.2 rga-6 Substitution (Missense C01F4.2a.1:K35T;C01F4.2b.1:K35T) MODERATE Homo 16847-G-16849(1 bp substitution) I -0.6959 Dr. S. Mitani
var_00000404 F21F3.2 F21F3.2 Substitution (Missense F21F3.2.1:E44D) MODERATE Homo 7766-T-7768(1 bp substitution) I -0.636199 Dr. S. Mitani
var_00000415 F54C1.5 dyf-1 Substitution (Missense F54C1.5a.1:K252N;F54C1.5b.4:K193N;F54C1.5b.1:K193N;F54C1.5b.2:K193N;F54C1.5b.3:K193N) MODERATE Homo 2982-G-2984(1 bp substitution) I -0.4292 Dr. S. Mitani
var_00000417 C46H11.10 C46H11.10 Substitution (Missense C46H11.10b.1:E206D;C46H11.10a.1:E309D;C46H11.10b.3:E206D;C46H11.10b.2:E206D) MODERATE Homo 33058-A-33060(1 bp substitution) I -0.421908 Dr. S. Mitani
var_00000424 Y110A7A.16 elpc-1 Substitution (Missense Y110A7A.16.1:A443T) MODERATE Homo 16411-T-16413(1 bp substitution) I -0.4019 Dr. S. Mitani
var_00000426 Y110A7A.17 mat-1 Deletion (InFrame ) HIGH Homo 24187/24188-24202/24203(15 bp deletion) I -0.3974 Dr. S. Mitani
var_00000429 Y110A7A.3 unc-63 Substitution (Missense Y110A7A.3.1:V271A) MODERATE Homo 46524-C-46526(1 bp substitution) I -0.3521 Dr. S. Mitani
var_00000435 C32E12.2 pde-5 Substitution (Nonsense C32E12.2.1:C162*) HIGH Homo 26255-A-26257(1 bp substitution) I -0.2838 Dr. S. Mitani
var_00000439 B0261.1 B0261.1 Substitution (Missense B0261.1.1:D398Y) MODERATE Homo 26099-T-26101(1 bp substitution) I -0.232282 Dr. S. Mitani
var_00000440 C01G8.5 erm-1 Substitution (Missense C01G8.5a.1:H289Y;C01G8.5b.1:H290Y) MODERATE Homo 14151-A-14153(1 bp substitution) I -0.159 Dr. S. Mitani
var_00000443 F55A12.3 ppk-1 Substitution (Missense F55A12.3.3:P23A;F55A12.3.2:P23A;F55A12.3.1:P23A) MODERATE Homo 19772-G-19774(1 bp substitution) I -0.0386 Dr. S. Mitani
var_00000448 F27C1.11 F27C1.11 Substitution (Missense F27C1.11b.1:I562K;F27C1.11a.1:I562K) MODERATE Homo 21455-T-21457(1 bp substitution) I 0.00219081 Dr. S. Mitani