変異リスト

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肺がん – RYR2 (ARVC2, ARVD2, RyR, RYR-2, VTSIP)

RYR2

がん種染色体変異開始
位置
変異終了
位置
塩基
変化
mRNAProteinアミノ酸
変化
アミノ酸
変化
変異の種類変異数
肺がん chr1 237540697 237540697 G>C NM_001035 NP_001026 p.D180H 180 nonsynonymous SNV 1
肺がん chr1 237620031 237620031 G>C NM_001035 NP_001026 p.L536F 536 nonsynonymous SNV 1
肺がん chr1 237711847 237711847 C>T NM_001035 NP_001026 p.A1008V 1008 nonsynonymous SNV 1
肺がん chr1 237713982 237713982 C>T NM_001035 NP_001026 p.Q1069X 1069 stopgain 1
肺がん chr1 237754077 237754077 ->A NM_001035 NP_001026 p.S1315fs 1315 frameshift insertion 1
肺がん chr1 237774094 237774094 G>C NM_001035 NP_001026 p.K1572N 1572 nonsynonymous SNV 1
肺がん chr1 237774119 237774119 C>A NM_001035 NP_001026 p.Q1581K 1581 nonsynonymous SNV 1
肺がん chr1 237774229 237774229 G>T NM_001035 NP_001026 p.W1617C 1617 nonsynonymous SNV 1
肺がん chr1 237777755 237777755 A>T NM_001035 NP_001026 p.Y1776F 1776 nonsynonymous SNV 1
肺がん chr1 237777872 237777872 A>C NM_001035 NP_001026 p.E1815A 1815 nonsynonymous SNV 1
肺がん chr1 237797008 237797008 T>A NM_001035 NP_001026 p.L2229H 2229 nonsynonymous SNV 1
肺がん chr1 237811823 237811823 G>T NM_001035 NP_001026 p.R2474S 2474 nonsynonymous SNV 1
肺がん chr1 237813199 237813199 T>- NM_001035 NP_001026 p.M2512fs 2512 frameshift deletion 1
肺がん chr1 237819155 237819155 C>A NM_001035 NP_001026 p.P2667H 2667 nonsynonymous SNV 1
肺がん chr1 237863668 237863668 G>T NM_001035 NP_001026 p.V3090F 3090 nonsynonymous SNV 1
肺がん chr1 237865283 237865283 G>C NM_001035 NP_001026 p.D3125H 3125 nonsynonymous SNV 1
肺がん chr1 237947786 237947786 G>T NM_001035 NP_001026 p.M4258I 4258 nonsynonymous SNV 1
肺がん chr1 237954786 237954786 G>C NM_001035 NP_001026 p.A4512P 4512 nonsynonymous SNV 1
肺がん chr1 237957225 237957225 G>T NM_001035 NP_001026 p.G4614V 4614 nonsynonymous SNV 1
肺がん chr1 237993907 237993907 G>T NM_001035 NP_001026 p.Q4911H 4911 nonsynonymous SNV 1
SNV: Single nucleotide variation