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Tier 1 Molecular Pathology Procedures
| 81105 |
HXXXX PXXXXXXX AXXXXXX 1 XXXXXXXXXX (HPA-1), ITGB3 (XXXXXXXX, XXXX 3 [XXXXXXXX XXXXXXXXXXXX IIIX], XXXXXXX CD61 [GPIIIX]) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX, HPA-1X/X (L33P)
|
| 81106 |
HXXXX PXXXXXXX AXXXXXX 2 XXXXXXXXXX (HPA-2), GP1BA (XXXXXXXXXXXX IX [XXXXXXXX], XXXXX XXXXXXXXXXX [GPIXX]) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX, HPA-2X/X (T145M)
|
| 81107 |
HXXXX PXXXXXXX AXXXXXX 3 XXXXXXXXXX (HPA-3), ITGA2B (XXXXXXXX, XXXXX 2X [XXXXXXXX XXXXXXXXXXXX IIX XX IIX/IIIX XXXXXXX], XXXXXXX CD41 [GPIIX]) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX, HPA-3X/X (I843S)
|
| 81108 |
HXXXX PXXXXXXX AXXXXXX 4 XXXXXXXXXX (HPA-4), ITGB3 (XXXXXXXX, XXXX 3 [XXXXXXXX XXXXXXXXXXXX IIIX], XXXXXXX CD61 [GPIIIX]) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX, HPA-4X/X (R143Q)
|
| 81109 |
HXXXX PXXXXXXX AXXXXXX 5 XXXXXXXXXX (HPA-5), ITGA2 (XXXXXXXX, XXXXX 2 [CD49B, XXXXX 2 XXXXXXX XX VLA-2 XXXXXXXX] [GPIX]) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX (XX, HPA-5X/X [K505E])
|
| 81110 |
HXXXX PXXXXXXX AXXXXXX 6 XXXXXXXXXX (HPA-6X), ITGB3 (XXXXXXXX, XXXX 3 [XXXXXXXX XXXXXXXXXXXX IIIX, XXXXXXX CD61] [GPIIIX]) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX, HPA-6X/X (R489Q)
|
| 81111 |
HXXXX PXXXXXXX AXXXXXX 9 XXXXXXXXXX (HPA-9X), ITGA2B (XXXXXXXX, XXXXX 2X [XXXXXXXX XXXXXXXXXXXX IIX XX IIX/IIIX XXXXXXX, XXXXXXX CD41] [GPIIX]) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX, HPA-9X/X (V837M)
|
| 81112 |
HXXXX PXXXXXXX AXXXXXX 15 XXXXXXXXXX (HPA-15), CD109 (CD109 XXXXXXXX) (XX, XXXXXXXX XXXXXXXXXX XXXXXXXXXXXXXXXX [NAIT], XXXX-XXXXXXXXXXX XXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX, HPA-15X/X (S682Y)
|
| 81120 |
IDH1 (XXXXXXXXXX XXXXXXXXXXXXX 1 [NADP+], XXXXXXX) (XX, XXXXXX), XXXXXX XXXXXXXX (XX, R132H, R132C)
|
| 81121 |
IDH2 (XXXXXXXXXX XXXXXXXXXXXXX 2 [NADP+], XXXXXXXXXXXXX) (XX, XXXXXX), XXXXXX XXXXXXXX (XX, R140W, R172M)
|
| 81161 |
DMD (XXXXXXXXXX) (XX, DXXXXXXX/BXXXXX XXXXXXXX XXXXXXXXX) XXXXXXXX XXXXXXXX, XXX XXXXXXXXXXX XXXXXXXX, XX XXXXXXXXX
|
| 81162 |
BRCA1 (BRCA1, DNA XXXXXX XXXXXXXXXX), BRCA2 (BRCA2, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX XXX XXXX XXXXXXXXXXX/XXXXXXXX XXXXXXXX (XX, XXXXXXXXX XX XXXXX XXXX XXXXXXXXXXXXXX)
|
| 81163 |
BRCA1 (BRCA1, DNA XXXXXX XXXXXXXXXX), BRCA2 (BRCA2, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81164 |
BRCA1 (BRCA1, DNA XXXXXX XXXXXXXXXX), BRCA2 (BRCA2, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXXXXX/XXXXXXXX XXXXXXXX (XX, XXXXXXXXX XX XXXXX XXXX XXXXXXXXXXXXXX)
|
| 81165 |
BRCA1 (BRCA1, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81166 |
BRCA1 (BRCA1, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXXXXX/XXXXXXXX XXXXXXXX (XX, XXXXXXXXX XX XXXXX XXXX XXXXXXXXXXXXXX)
|
| 81167 |
BRCA2 (BRCA2, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXXXXX/XXXXXXXX XXXXXXXX (XX, XXXXXXXXX XX XXXXX XXXX XXXXXXXXXXXXXX)
|
| 81168 |
CCND1/IGH (X(11;14)) (XX, XXXXXX XXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX, XXXXX XXXXXXXXXX, XXXXXXXXXXX XXX XXXXXXXXXXXX, XX XXXXXXXXX
|
| 81170 |
ABL1 (ABL XXXXX-XXXXXXXX 1, XXX-XXXXXXXX XXXXXXXX XXXXXX) (XX, XXXXXXXX XXXXXXXX XXXXXXXX XXXXXX XXXXXXXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXXXX XX XXX XXXXXX XXXXXX
|
| 81171 |
AFF2 (ALF XXXXXXXXXXXXX XXXXXXXXXX XXXXXX 2 [FMR2]) (XX, XXXXXXX X XXXXXXXXXXXX XXXXXXXXXX 2 [FRAXE]) XXXX XXXXXXXX; XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81172 |
AFF2 (ALF XXXXXXXXXXXXX XXXXXXXXXX XXXXXX 2 [FMR2]) (XX, XXXXXXX X XXXXXXXXXXXX XXXXXXXXXX 2 [FRAXE]) XXXX XXXXXXXX; XXXXXXXXXXXXXXXX XX XXXXXXX (XX, XXXXXXXX XXXX XXX XXXXXXXXXXX XXXXXX)
|
| 81173 |
AR (XXXXXXXX XXXXXXXX) (XX, XXXXXX XXX XXXXXX XXXXXXXX XXXXXXX, KXXXXXX XXXXXXX, X XXXXXXXXXX XXXXXXXXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81174 |
AR (XXXXXXXX XXXXXXXX) (XX, XXXXXX XXX XXXXXX XXXXXXXX XXXXXXX, KXXXXXX XXXXXXX, X XXXXXXXXXX XXXXXXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81175 |
ASXL1 (XXXXXXXXXX XXX XXXXX XXXX 1, XXXXXXXXXXXXXXX XXXXXXXXX) (XX, XXXXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXXXXXXXXX XXXXXXXXX, XXXXXXX XXXXXXXXXXXXXX XXXXXXXX), XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81176 |
ASXL1 (XXXXXXXXXX XXX XXXXX XXXX 1, XXXXXXXXXXXXXXX XXXXXXXXX) (XX, XXXXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXXXXXXXXX XXXXXXXXX, XXXXXXX XXXXXXXXXXXXXX XXXXXXXX), XXXX XXXXXXXX; XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXX 12)
|
| 81177 |
ATN1 (XXXXXXXX 1) (XX, XXXXXXXXXXXXX-XXXXXXXXXXXXXX XXXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81178 |
ATXN1 (XXXXXX 1) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81179 |
ATXN2 (XXXXXX 2) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81180 |
ATXN3 (XXXXXX 3) (XX, XXXXXXXXXXXXXXX XXXXXX, MXXXXXX-JXXXXX XXXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81181 |
ATXN7 (XXXXXX 7) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81182 |
ATXN8OS (ATXN8 XXXXXXXX XXXXXX [XXX-XXXXXXX XXXXXX]) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81183 |
ATXN10 (XXXXXX 10) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81184 |
CACNA1A (XXXXXXX XXXXXXX-XXXXX XXXXXXX XXXXXXX XXXXX1 A) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81185 |
CACNA1A (XXXXXXX XXXXXXX-XXXXX XXXXXXX XXXXXXX XXXXX1 A) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81186 |
CACNA1A (XXXXXXX XXXXXXX-XXXXX XXXXXXX XXXXXXX XXXXX1 A) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81187 |
CNBP (CCHC-XXXX XXXX XXXXXX XXXXXXX XXXX XXXXXXX XXXXXXX) (XX, XXXXXXXX XXXXXXXXX XXXX 2) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81188 |
CSTB (XXXXXXXX B) (XX, UXXXXXXXXX-LXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81189 |
CSTB (XXXXXXXX B) (XX, UXXXXXXXXX-LXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81190 |
CSTB (XXXXXXXX B) (XX, UXXXXXXXXX-LXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX(X)
|
| 81191 |
NTRK1 (XXXXXXXXXXXX XXXXXXXX XXXXXXXX XXXXXX 1) (XX, XXXXX XXXXXX) XXXXXXXXXXXXX XXXXXXXX
|
| 81192 |
NTRK2 (XXXXXXXXXXXX XXXXXXXX XXXXXXXX XXXXXX 2) (XX, XXXXX XXXXXX) XXXXXXXXXXXXX XXXXXXXX
|
| 81193 |
NTRK3 (XXXXXXXXXXXX XXXXXXXX XXXXXXXX XXXXXX 3) (XX, XXXXX XXXXXX) XXXXXXXXXXXXX XXXXXXXX
|
| 81194 |
NTRK (XXXXXXXXXXXX XXXXXXXX XXXXXXXX XXXXXX 1, 2, XXX 3) (XX, XXXXX XXXXXX) XXXXXXXXXXXXX XXXXXXXX
|
| 81200 |
ASPA (XXXXXXXXXXXXXX) (XX, CXXXXXX XXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, E285A, Y231X)
|
| 81201 |
APC (XXXXXXXXXXX XXXXXXXXX XXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXX [FAP], XXXXXXXXXX FAP) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81202 |
APC (XXXXXXXXXXX XXXXXXXXX XXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXX [FAP], XXXXXXXXXX FAP) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX
|
| 81203 |
APC (XXXXXXXXXXX XXXXXXXXX XXXX) (XX, XXXXXXXX XXXXXXXXXXXX XXXXXXXXX [FAP], XXXXXXXXXX FAP) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81204 |
AR (XXXXXXXX XXXXXXXX) (XX, XXXXXX XXX XXXXXX XXXXXXXX XXXXXXX, KXXXXXX XXXXXXX, X XXXXXXXXXX XXXXXXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXXXXXXX XX XXXXXXX (XX, XXXXXXXX XXXX XX XXXXXXXXXXX XXXXXX)
|
| 81205 |
BCKDHB (XXXXXXXX-XXXXX XXXX XXXX XXXXXXXXXXXXX E1, XXXX XXXXXXXXXXX) (XX, XXXXX XXXXX XXXXX XXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, R183P, G278S, E422X)
|
| 81206 |
BCR/ABL1 (X(9;22)) (XX, XXXXXXX XXXXXXXXXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX; XXXXX XXXXXXXXXX, XXXXXXXXXXX XX XXXXXXXXXXXX
|
| 81207 |
BCR/ABL1 (X(9;22)) (XX, XXXXXXX XXXXXXXXXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX; XXXXX XXXXXXXXXX, XXXXXXXXXXX XX XXXXXXXXXXXX
|
| 81208 |
BCR/ABL1 (X(9;22)) (XX, XXXXXXX XXXXXXXXXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX; XXXXX XXXXXXXXXX, XXXXXXXXXXX XX XXXXXXXXXXXX
|
| 81209 |
BLM (BXXXX XXXXXXXX, RXXQ XXXXXXXX-XXXX) (XX, BXXXX XXXXXXXX) XXXX XXXXXXXX, 2281XXX6XXX7 XXXXXXX
|
| 81210 |
BRAF (B-RXX XXXXX-XXXXXXXX, XXXXXX/XXXXXXXXX XXXXXX) (XX, XXXXX XXXXXX, XXXXXXXX), XXXX XXXXXXXX, V600 XXXXXXX(X)
|
| 81212 |
BRCA1 (BRCA1, DNA XXXXXX XXXXXXXXXX), BRCA2 (BRCA2, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; 185XXXAG, 5385XXXC, 6174XXXT XXXXXXXX
|
| 81215 |
BRCA1 (BRCA1, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81216 |
BRCA2 (BRCA2, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81217 |
BRCA2 (BRCA2, DNA XXXXXX XXXXXXXXXX) (XX, XXXXXXXXXX XXXXXX XXX XXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81218 |
CEBPA (CCAAT/XXXXXXXX XXXXXXX XXXXXXX [C/EBP], XXXXX) (XX, XXXXX XXXXXXX XXXXXXXX), XXXX XXXXXXXX, XXXX XXXX XXXXXXXX
|
| 81219 |
CALR (XXXXXXXXXXXX) (XX, XXXXXXXXXXXXXXXXXX XXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXXX XX XXXX 9
|
| 81220 |
CFTR (XXXXXX XXXXXXXX XXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX) (XX, XXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXX XXXXXXXX (XX, ACMG/ACOG XXXXXXXXXX)
|
| 81221 |
CFTR (XXXXXX XXXXXXXX XXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX) (XX, XXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX
|
| 81222 |
CFTR (XXXXXX XXXXXXXX XXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX) (XX, XXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81223 |
CFTR (XXXXXX XXXXXXXX XXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX) (XX, XXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81224 |
CFTR (XXXXXX XXXXXXXX XXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX) (XX, XXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXX 8 XXXX-T XXXXXXXX (XX, XXXX XXXXXXXXXXX)
|
| 81225 |
CYP2C19 (XXXXXXXXXX P450, XXXXXX 2, XXXXXXXXX C, XXXXXXXXXXX 19) (XX, XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, *2, *3, *4, *8, *17)
|
| 81226 |
CYP2D6 (XXXXXXXXXX P450, XXXXXX 2, XXXXXXXXX D, XXXXXXXXXXX 6) (XX, XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN)
|
| 81227 |
CYP2C9 (XXXXXXXXXX P450, XXXXXX 2, XXXXXXXXX C, XXXXXXXXXXX 9) (XX, XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, *2, *3, *5, *6)
|
| 81228 |
CXXXXXXXXXX (XXXXXX-XXXX) XXXXXXXX XXX XXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXXXX; XXXXXXXXXXXXX XX XXXXXXX XXXXXXX XXX XXXX XXXXXX XXXXXXXX, XXXXXXXXXXX XXXXXXX XXXXXXXXXXXXX [CGH] XXXXXXXXXX XXXXXXXX
|
| 81229 |
CXXXXXXXXXX (XXXXXX-XXXX) XXXXXXXX XXX XXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXXXX; XXXXXXXXXXXXX XX XXXXXXX XXXXXXX XXX XXXX XXXXXX XXX XXXXXX XXXXXXXXXX XXXXXXXXXXXX (SNP) XXXXXXXX, XXXXXXXXXXX XXXXXXX XXXXXXXXXXXXX (CGH) XXXXXXXXXX XXXXXXXX
|
| 81230 |
CYP3A4 (XXXXXXXXXX P450 XXXXXX 3 XXXXXXXXX A XXXXXX 4) (XX, XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, *2, *22)
|
| 81231 |
CYP3A5 (XXXXXXXXXX P450 XXXXXX 3 XXXXXXXXX A XXXXXX 5) (XX, XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, *2, *3, *4, *5, *6, *7)
|
| 81232 |
DPYD (XXXXXXXXXXXXXXXXX XXXXXXXXXXXXX) (XX, 5-XXXXXXXXXXXX/5-FU XXX XXXXXXXXXXXX XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, *2A, *4, *5, *6)
|
| 81233 |
BTK (BXXXXX'X XXXXXXXX XXXXXX) (XX, XXXXXXX XXXXXXXXXXX XXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, C481S, C481R, C481F)
|
| 81234 |
DMPK (DM1 XXXXXXX XXXXXX) (XX, XXXXXXXX XXXXXXXXX XXXX 1) XXXX XXXXXXXX; XXXXXXXXXX XX XXXXXX XXXXXXXX (XXXXXXXX) XXXXXXX
|
| 81235 |
EGFR (XXXXXXXXX XXXXXX XXXXXX XXXXXXXX) (XX, XXX-XXXXX XXXX XXXX XXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, XXXX 19 LREA XXXXXXXX, L858R, T790M, G719A, G719S, L861Q)
|
| 81236 |
EZH2 (XXXXXXXX XX XXXXX 2 XXXXXXXX XXXXXXXXXX XXXXXXX 2 XXXXXXX) (XX, XXXXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXXXXXXXXXX XXXXXXXXX) XXXX XXXXXXXX, XXXX XXXX XXXXXXXX
|
| 81237 |
EZH2 (XXXXXXXX XX XXXXX 2 XXXXXXXX XXXXXXXXXX XXXXXXX 2 XXXXXXX) (XX, XXXXXXX XXXXX B-XXXX XXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, XXXXX 646)
|
| 81238 |
F9 (XXXXXXXXXXX XXXXXX IX) (XX, XXXXXXXXXX B), XXXX XXXX XXXXXXXX
|
| 81239 |
DMPK (DM1 XXXXXXX XXXXXX) (XX, XXXXXXXX XXXXXXXXX XXXX 1) XXXX XXXXXXXX; XXXXXXXXXXXXXXXX XX XXXXXXX (XX, XXXXXXXX XXXX)
|
| 81240 |
F2 (XXXXXXXXXXX, XXXXXXXXXXX XXXXXX II) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX) XXXX XXXXXXXX, 20210G>A XXXXXXX
|
| 81241 |
F5 (XXXXXXXXXXX XXXXXX V) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX) XXXX XXXXXXXX, LXXXXX XXXXXXX
|
| 81242 |
FANCC (FXXXXXX XXXXXX, XXXXXXXXXXXXXXX XXXXX C) (XX, FXXXXXX XXXXXX, XXXX C) XXXX XXXXXXXX, XXXXXX XXXXXXX (XX, IVS4+4A>T)
|
| 81243 |
FMR1 (XXXXXXX X XXXXXXXXX XXXXXXXXXXXXXXXXX 1) (XX, XXXXXXX X XXXXXXXX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX [XLID]) XXXX XXXXXXXX; XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81244 |
FMR1 (XXXXXXX X XXXXXXXXX XXXXXXXXXXXXXXXXX 1) (XX, XXXXXXX X XXXXXXXX, X-XXXXXX XXXXXXXXXXXX XXXXXXXXXX [XLID]) XXXX XXXXXXXX; XXXXXXXXXXXXXXXX XX XXXXXXX (XX, XXXXXXXX XXXX XXX XXXXXXXX XXXXXXXXXXX XXXXXX)
|
| 81245 |
FLT3 (XXX-XXXXXXX XXXXXXXX XXXXXX 3) (XX, XXXXX XXXXXXX XXXXXXXX), XXXX XXXXXXXX; XXXXXXXX XXXXXX XXXXXXXXXXX (ITD) XXXXXXXX (XX, XXXXX 14, 15)
|
| 81246 |
FLT3 (XXX-XXXXXXX XXXXXXXX XXXXXX 3) (XX, XXXXX XXXXXXX XXXXXXXX), XXXX XXXXXXXX; XXXXXXXX XXXXXX XXXXXX (TKD) XXXXXXXX (XX, D835, I836)
|
| 81247 |
G6PD (XXXXXXX-6-XXXXXXXXX XXXXXXXXXXXXX) (XX, XXXXXXXXX XXXXXX, XXXXXXXX), XXXX XXXXXXXX; XXXXXX XXXXXXX(X) (XX, A, A-)
|
| 81248 |
G6PD (XXXXXXX-6-XXXXXXXXX XXXXXXXXXXXXX) (XX, XXXXXXXXX XXXXXX, XXXXXXXX), XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX(X)
|
| 81249 |
G6PD (XXXXXXX-6-XXXXXXXXX XXXXXXXXXXXXX) (XX, XXXXXXXXX XXXXXX, XXXXXXXX), XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81250 |
G6PC (XXXXXXX-6-XXXXXXXXXXX, XXXXXXXXX XXXXXXX) (XX, GXXXXXXX XXXXXXX XXXXXXX, XXXX 1X, XXX GXXXXX XXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, R83C, Q347X)
|
| 81251 |
GBA (XXXXXXXXXXX, XXXX, XXXX) (XX, GXXXXXX XXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, N370S, 84GG, L444P, IVS2+1G>A)
|
| 81252 |
GJB2 (XXX XXXXXXXX XXXXXXX, XXXX 2, 26XDX, XXXXXXXX 26) (XX, XXXXXXXXXXXX XXXXXXX XXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81253 |
GJB2 (XXX XXXXXXXX XXXXXXX, XXXX 2, 26XDX, XXXXXXXX 26) (XX, XXXXXXXXXXXX XXXXXXX XXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX
|
| 81254 |
GJB6 (XXX XXXXXXXX XXXXXXX, XXXX 6, 30XDX, XXXXXXXX 30) (XX, XXXXXXXXXXXX XXXXXXX XXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, 309XX [XXX(GJB6-D13S1830)] XXX 232XX [XXX(GJB6-D13S1854)])
|
| 81255 |
HEXA (XXXXXXXXXXXXXX A [XXXXX XXXXXXXXXXX]) (XX, TXX-SXXXX XXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, 1278XXXTATC, 1421+1G>C, G269S)
|
| 81256 |
HFE (XXXXXXXXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, C282Y, H63D)
|
| 81257 |
HBA1/HBA2 (XXXXX XXXXXX 1 XXX XXXXX XXXXXX 2) (XX, XXXXX XXXXXXXXXXX, HX BXXX XXXXXXX XXXXXXX XXXXXXXX, HXH XXXXXXX), XXXX XXXXXXXX; XXXXXX XXXXXXXXX XX XXXXXXX (XX, SXXXXXXXX AXXXX, TXXX, FXXXXXXX, MXXXXXXXXXXXX, XXXXX3.7, XXXXX4.2, XXXXX20.5, CXXXXXXX SXXXXX)
|
| 81258 |
HBA1/HBA2 (XXXXX XXXXXX 1 XXX XXXXX XXXXXX 2) (XX, XXXXX XXXXXXXXXXX, HX BXXX XXXXXXX XXXXXXX XXXXXXXX, HXH XXXXXXX), XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81259 |
HBA1/HBA2 (XXXXX XXXXXX 1 XXX XXXXX XXXXXX 2) (XX, XXXXX XXXXXXXXXXX, HX BXXX XXXXXXX XXXXXXX XXXXXXXX, HXH XXXXXXX), XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81260 |
IKBKAP (XXXXXXXXX XX XXXXX XXXXX XXXXXXXXXXX XXXX XXXXXXXX XX B-XXXXX, XXXXXX XXXXXXX-XXXXXXXXXX XXXXXXX) (XX, XXXXXXXX XXXXXXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, 2507+6T>C, R696P)
|
| 81261 |
IGH@ (IXXXXXXXXXXXXX XXXXX XXXXX XXXXX) (XX, XXXXXXXXX XXX XXXXXXXXX, B-XXXX), XXXX XXXXXXXXXXXXX XXXXXXXX XX XXXXXX XXXXXXXX XXXXXX XXXXXXXXXX(X); XXXXXXXXX XXXXXXXXXXX (XX, XXXXXXXXXX XXXXX XXXXXXXX)
|
| 81262 |
IGH@ (IXXXXXXXXXXXXX XXXXX XXXXX XXXXX) (XX, XXXXXXXXX XXX XXXXXXXXX, B-XXXX), XXXX XXXXXXXXXXXXX XXXXXXXX XX XXXXXX XXXXXXXX XXXXXX XXXXXXXXXX(X); XXXXXX XXXXX XXXXXXXXXXX (XX, SXXXXXXX XXXX)
|
| 81263 |
IGH@ (IXXXXXXXXXXXXX XXXXX XXXXX XXXXX) (XX, XXXXXXXX XXX XXXXXXXX, B-XXXX), XXXXXXXX XXXXXX XXXXXXX XXXXXXXX XXXXXXXX
|
| 81264 |
IGK@ (IXXXXXXXXXXXXX XXXXX XXXXX XXXXX XXXXX) (XX, XXXXXXXX XXX XXXXXXXX, B-XXXX), XXXX XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX XXXXXX XXXXXXXXXX(X)
|
| 81265 |
CXXXXXXXXXX XXXXXXXX XXXXX SXXXX TXXXXX RXXXXX (STR) XXXXXXX; XXXXXXX XXX XXXXXXXXXXX XXXXXXXX (XX, XXX-XXXXXXXXXX XXXXXXXXX XXX XXXXX XXXXXXXX XXXXXXX, XXXX-XXXXXXXXXX XXX-XXXXXXXXXXXXX XXXXXXXXX XXXXXXXX [XX, XXXXXX XXXX XX XXXXX XXXXXXXX XXXXXX XXXXXX] XXX XXXXX XXXXXXX, XXXX XXXXXXXX XXXXXXX, XX XXXXXXXX XXXX XXXXXXXXXXXXX XX XXXXX XXXXX)
|
| 81266 |
CXXXXXXXXXX XXXXXXXX XXXXX SXXXX TXXXXX RXXXXX (STR) XXXXXXX; XXXX XXXXXXXXXX XXXXXXXX (XX, XXXXXXXXXX XXXX XXXXX XXXXX, XXXXXXXXXX XXXXX XXXXXXX XXXX XXXXXXXXX XXXXXXXX, XX XXXXXXXXXX XXXXXXXX XX XXXXXXXX XXXXX XXXXXXXXXXX) (LXXX XXXXXXXXXX XX XXXXXXXX XX XXXX XXX XXXXXXX XXXXXXXXX)
|
| 81267 |
CXXXXXXXX (XXXXXXXXXXX) XXXXXXXX, XXXX XXXXXXXXXXXXXXX XXXXXXXX (XX, XXXXXXXXXXXXX XXXX XXXX), XXXXXXXX XXXXXXXXXX XX XXXXXXXXXX XXXXXXXXX XXXXXXXX XXXXXXXX; XXXXXXX XXXX XXXXXXXXX
|
| 81268 |
CXXXXXXXX (XXXXXXXXXXX) XXXXXXXX, XXXX XXXXXXXXXXXXXXX XXXXXXXX (XX, XXXXXXXXXXXXX XXXX XXXX), XXXXXXXX XXXXXXXXXX XX XXXXXXXXXX XXXXXXXXX XXXXXXXX XXXXXXXX; XXXX XXXX XXXXXXXXX (XX, CD3, CD33), XXXX XXXX XXXX
|
| 81269 |
HBA1/HBA2 (XXXXX XXXXXX 1 XXX XXXXX XXXXXX 2) (XX, XXXXX XXXXXXXXXXX, HX BXXX XXXXXXX XXXXXXX XXXXXXXX, HXH XXXXXXX), XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81270 |
JAK2 (JXXXX XXXXXX 2) (XX, XXXXXXXXXXXXXXXXXX XXXXXXXX) XXXX XXXXXXXX, X.VXX617PXX (V617F) XXXXXXX
|
| 81271 |
HTT (XXXXXXXXXX) (XX, HXXXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81272 |
KIT (X-XXX HXXXX-ZXXXXXXXX 4 XXXXXX XXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXXXXXXXXX XXXXXXX XXXXX [GIST], XXXXX XXXXXXX XXXXXXXX, XXXXXXXX), XXXX XXXXXXXX, XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 8, 11, 13, 17, 18)
|
| 81273 |
KIT (X-XXX HXXXX-ZXXXXXXXX 4 XXXXXX XXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXXXXX), XXXX XXXXXXXX, D816 XXXXXXX(X)
|
| 81274 |
HTT (XXXXXXXXXX) (XX, HXXXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXXXXXXX XX XXXXXXX (XX, XXXXXXXX XXXX)
|
| 81275 |
KRAS (KXXXXXX XXX XXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXX) XXXX XXXXXXXX; XXXXXXXX XX XXXX 2 (XX, XXXXXX 12 XXX 13)
|
| 81276 |
KRAS (KXXXXXX XXX XXXXXXX XXXXX XXXXXXXX XXXXXXX) (XX, XXXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXX XXXXXXX(X) (XX, XXXXX 61, XXXXX 146)
|
| 81277 |
CXXXXXXXXXX XXXXXXXXX (XXXXXX-XXXX) XXXXXXXXXX XXXXXXXX, XXXXXXXXXXXXX XX XXXXXXX XXXXXXX XXX XXXX XXXXXX XXX XXXX-XX-XXXXXXXXXXXXXX XXXXXXXX XXX XXXXXXXXXXX XXXXXXXXXXXXX
|
| 81278 |
IGH@/BCL2 (X(14;18)) (XX, XXXXXXXXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX, XXXXX XXXXXXXXXX XXXXXX (MBR) XXX XXXXX XXXXXXX XXXXXX (XXX) XXXXXXXXXXX, XXXXXXXXXXX XX XXXXXXXXXXXX
|
| 81279 |
JAK2 (JXXXX XXXXXX 2) (XX, XXXXXXXXXXXXXXXXXX XXXXXXXX) XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 12 XXX 13)
|
| 81283 |
IFNL3 (XXXXXXXXXX, XXXXXX 3) (XX, XXXX XXXXXXXX), XXXX XXXXXXXX, XX12979860 XXXXXXX
|
| 81284 |
FXN (XXXXXXXX) (XX, FXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXXXXXXX XX XXXXXX XXXXXXXX (XXXXXXXX) XXXXXXX
|
| 81285 |
FXN (XXXXXXXX) (XX, FXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXXXXXXXXXXXXX XX XXXXXXX (XX, XXXXXXXX XXXX)
|
| 81286 |
FXN (XXXXXXXX) (XX, FXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81287 |
MGMT (O-6-XXXXXXXXXXXXX-DNA XXXXXXXXXXXXXXXXX) (XX, XXXXXXXXXXXX XXXXXXXXXX) XXXXXXXX XXXXXXXXXXX XXXXXXXX
|
| 81288 |
MLH1 (XXXL XXXXXXX 1, XXXXX XXXXXX, XXXXXXXXXXXX XXXX 2) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXX XXXXXXXXXXX XXXXXXXX
|
| 81289 |
FXN (XXXXXXXX) (XX, FXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX(X)
|
| 81290 |
MCOLN1 (XXXXXXXXX 1) (XX, MXXXXXXXXXXXX, XXXX IV) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, IVS3-2A>G, XXX6.4XX)
|
| 81291 |
MTHFR (5,10-XXXXXXXXXXXXXXXXXXXXXXXXX XXXXXXXXX) (XX, XXXXXXXXXX XXXXXXXXXXXXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, 677T, 1298C)
|
| 81292 |
MLH1 (XXXL XXXXXXX 1, XXXXX XXXXXX, XXXXXXXXXXXX XXXX 2) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81293 |
MLH1 (XXXL XXXXXXX 1, XXXXX XXXXXX, XXXXXXXXXXXX XXXX 2) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX
|
| 81294 |
MLH1 (XXXL XXXXXXX 1, XXXXX XXXXXX, XXXXXXXXXXXX XXXX 2) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81295 |
MSH2 (XXXS XXXXXXX 2, XXXXX XXXXXX, XXXXXXXXXXXX XXXX 1) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81296 |
MSH2 (XXXS XXXXXXX 2, XXXXX XXXXXX, XXXXXXXXXXXX XXXX 1) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX
|
| 81297 |
MSH2 (XXXS XXXXXXX 2, XXXXX XXXXXX, XXXXXXXXXXXX XXXX 1) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81298 |
MSH6 (XXXS XXXXXXX 6 [E. XXXX]) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81299 |
MSH6 (XXXS XXXXXXX 6 [E. XXXX]) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX
|
| 81300 |
MSH6 (XXXS XXXXXXX 6 [E. XXXX]) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81301 |
MXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXX (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XX XXXXXXX XXX XXXXXXXX XXXXXX XXXXXXXXXX (XX, BAT25, BAT26), XXXXXXXX XXXXXXXXXX XX XXXXXXXXXX XXX XXXXXX XXXXXX, XX XXXXXXXXX
|
| 81302 |
MECP2 (XXXXXX CXG XXXXXXX XXXXXXX 2) (XX, RXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81303 |
MECP2 (XXXXXX CXG XXXXXXX XXXXXXX 2) (XX, RXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81304 |
MECP2 (XXXXXX CXG XXXXXXX XXXXXXX 2) (XX, RXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81305 |
MYD88 (XXXXXXX XXXXXXXXXXXXXXX XXXXXXX XXXXXXXX 88) (XX, WXXXXXXXXXX'X XXXXXXXXXXXXXXXXX, XXXXXXXXXXXXXXXXX XXXXXXXX) XXXX XXXXXXXX, X.LXX265PXX (L265P) XXXXXXX
|
| 81306 |
NUDT15 (XXXXX XXXXXXXXX 15) (XX, XXXX XXXXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, *2, *3, *4, *5, *6)
|
| 81307 |
PALB2 (XXXXXXX XXX XXXXXXXXX XX BRCA2) (XX, XXXXXX XXX XXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81308 |
PALB2 (XXXXXXX XXX XXXXXXXXX XX BRCA2) (XX, XXXXXX XXX XXXXXXXXXX XXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81309 |
PIK3CA (XXXXXXXXXXXXXXXXXXXX-4, 5-XXXXXXXXXXX 3-XXXXXX, XXXXXXXXX XXXXXXX XXXXX) (XX, XXXXXXXXXX XXX XXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 7, 9, 20)
|
| 81310 |
NPM1 (XXXXXXXXXXXXX) (XX, XXXXX XXXXXXX XXXXXXXX) XXXX XXXXXXXX, XXXX 12 XXXXXXXX
|
| 81311 |
NRAS (XXXXXXXXXXXXX RAS XXXXX [X-XXX] XXXXXXXX XXXXXXX) (XX, XXXXXXXXXX XXXXXXXXX), XXXX XXXXXXXX, XXXXXXXX XX XXXX 2 (XX, XXXXXX 12 XXX 13) XXX XXXX 3 (XX, XXXXX 61)
|
| 81312 |
PABPN1 (XXXX[A] XXXXXXX XXXXXXX XXXXXXX 1) (XX, XXXXXXXXXXXXXXX XXXXXXXX XXXXXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81313 |
PCA3/KLK3 (XXXXXXXX XXXXXX XXXXXXX 3 [XXX-XXXXXXX XXXXXX]/XXXXXXXXXX-XXXXXXX XXXXXXXXX 3 [XXXXXXXX XXXXXXXX XXXXXXX]) XXXXX (XX, XXXXXXXX XXXXXX)
|
| 81314 |
PDGFRA (XXXXXXXX-XXXXXXX XXXXXX XXXXXX XXXXXXXX, XXXXX XXXXXXXXXXX) (XX, XXXXXXXXXXXXXXXX XXXXXXX XXXXX [GIST]), XXXX XXXXXXXX, XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 12, 18)
|
| 81315 |
PML/RARXXXXX, (X(15;17)), (XXXXXXXXXXXXX XXXXXXXX/XXXXXXXX XXXX XXXXXXXX XXXXX) (XX, XXXXXXXXXXXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX; XXXXXX XXXXXXXXXXX (XX, XXXXXX 3 XXX XXXXXX 6), XXXXXXXXXXX XX XXXXXXXXXXXX
|
| 81316 |
PML/RARXXXXX, (X(15;17)), (XXXXXXXXXXXXX XXXXXXXX/XXXXXXXX XXXX XXXXXXXX XXXXX) (XX, XXXXXXXXXXXXX XXXXXXXX) XXXXXXXXXXXXX XXXXXXXX; XXXXXX XXXXXXXXXX (XX, XXXXXX 3, XXXXXX 6 XX XXXX 6), XXXXXXXXXXX XX XXXXXXXXXXXX
|
| 81317 |
PMS2 (XXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX 2 [S. XXXXXXXXXX]) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81318 |
PMS2 (XXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX 2 [S. XXXXXXXXXX]) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX
|
| 81319 |
PMS2 (XXXXXXXXXXX XXXXXXXXXXX XXXXXXXXX 2 [S. XXXXXXXXXX]) (XX, XXXXXXXXXX XXX-XXXXXXXXX XXXXXXXXXX XXXXXX, LXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81320 |
PLCG2 (XXXXXXXXXXXXX C XXXXX 2) (XX, XXXXXXX XXXXXXXXXXX XXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, R665W, S707F, L845F)
|
| 81321 |
PTEN (XXXXXXXXXXX XXX XXXXXX XXXXXXX) (XX, CXXXXX XXXXXXXX, PTEN XXXXXXXXX XXXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81322 |
PTEN (XXXXXXXXXXX XXX XXXXXX XXXXXXX) (XX, CXXXXX XXXXXXXX, PTEN XXXXXXXXX XXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81323 |
PTEN (XXXXXXXXXXX XXX XXXXXX XXXXXXX) (XX, CXXXXX XXXXXXXX, PTEN XXXXXXXXX XXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXX
|
| 81324 |
PMP22 (XXXXXXXXXX XXXXXX XXXXXXX 22) (XX, CXXXXXX-MXXXX-TXXXX, XXXXXXXXXX XXXXXXXXXX XXXX XXXXXXXXX XX XXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXXXXXXXX/XXXXXXXX XXXXXXXX
|
| 81325 |
PMP22 (XXXXXXXXXX XXXXXX XXXXXXX 22) (XX, CXXXXXX-MXXXX-TXXXX, XXXXXXXXXX XXXXXXXXXX XXXX XXXXXXXXX XX XXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXX XXXXXXXX XXXXXXXX
|
| 81326 |
PMP22 (XXXXXXXXXX XXXXXX XXXXXXX 22) (XX, CXXXXXX-MXXXX-TXXXX, XXXXXXXXXX XXXXXXXXXX XXXX XXXXXXXXX XX XXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81327 |
SEPT9 (SXXXXX9) (XX, XXXXXXXXXX XXXXXX) XXXXXXXX XXXXXXXXXXX XXXXXXXX
|
| 81328 |
SLCO1B1 (XXXXXX XXXXXXX XXXXXXX XXXXX XXXXXXXXXXX XXXXXX, XXXXXX 1B1) (XX, XXXXXXX XXXX XXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, *5)
|
| 81329 |
SMN1 (XXXXXXXX XX XXXXX XXXXXX 1, XXXXXXXXX) (XX, XXXXXX XXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXXX/XXXXXXXX XXXXXXXX (XX, XXXXXXX XXXXXXX), XXXXXXXX SMN2 (XXXXXXXX XX XXXXX XXXXXX 2, XXXXXXXXXXX) XXXXXXXX, XX XXXXXXXXX
|
| 81330 |
SMPD1 (XXXXXXXXXXXXX XXXXXXXXXXXXXXXXX 1, XXXX XXXXXXXXX) (XX, NXXXXXX-PXXX XXXXXXX, TXXX A) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, R496L, L302P, XXP330)
|
| 81331 |
SNRPN/UBE3A (XXXXX XXXXXXX XXXXXXXXXXXXXXXXX XXXXXXXXXXX N XXX XXXXXXXXX XXXXXXX XXXXXX E3A) (XX, PXXXXX-WXXXX XXXXXXXX XXX/XX AXXXXXXX XXXXXXXX), XXXXXXXXXXX XXXXXXXX
|
| 81332 |
SERPINA1 (XXXXXX XXXXXXXXX XXXXXXXXX, XXXXX A, XXXXX-1 XXXXXXXXXXXXXX, XXXXXXXXXXX, XXXXXX 1) (XX, XXXXX-1-XXXXXXXXXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, *S XXX *Z)
|
| 81333 |
TGFBI (XXXXXXXXXXXX XXXXXX XXXXXX XXXX-XXXXXXX) (XX, XXXXXXX XXXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, R124H, R124C, R124L, R555W, R555Q)
|
| 81334 |
RUNX1 (XXXX XXXXXXX XXXXXXXXXXXXX XXXXXX 1) (XX, XXXXX XXXXXXX XXXXXXXX, XXXXXXXX XXXXXXXX XXXXXXXX XXXX XXXXXXXXXX XXXXXXX XXXXXXXXXX) XXXX XXXXXXXX, XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXX 3-8)
|
| 81335 |
TPMT (XXXXXXXXXX S-XXXXXXXXXXXXXXXXX) (XX, XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, *2, *3)
|
| 81336 |
SMN1 (XXXXXXXX XX XXXXX XXXXXX 1, XXXXXXXXX) (XX, XXXXXX XXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81337 |
SMN1 (XXXXXXXX XX XXXXX XXXXXX 1, XXXXXXXXX) (XX, XXXXXX XXXXXXXX XXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXXX XXXXXXX(X)
|
| 81338 |
MPL (MPL XXXXX-XXXXXXXX, XXXXXXXXXXXXXX XXXXXXXX) (XX, XXXXXXXXXXXXXXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXX XXXXXXXX (XX, W515A, W515K, W515L, W515R)
|
| 81339 |
MPL (MPL XXXXX-XXXXXXXX, XXXXXXXXXXXXXX XXXXXXXX) (XX, XXXXXXXXXXXXXXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXX XXXXXXXX, XXXX 10
|
| 81340 |
TRB@ (T XXXX XXXXXXX XXXXXXXX, XXXX) (XX, XXXXXXXX XXX XXXXXXXX), XXXX XXXXXXXXXXXXX XXXXXXXX XX XXXXXX XXXXXXXX XXXXXX XXXXXXXXXX(X); XXXXX XXXXXXXXXXXXX XXXXXXXXXXX (XX, XXXXXXXXXX XXXXX XXXXXXXX)
|
| 81341 |
TRB@ (T XXXX XXXXXXX XXXXXXXX, XXXX) (XX, XXXXXXXX XXX XXXXXXXX), XXXX XXXXXXXXXXXXX XXXXXXXX XX XXXXXX XXXXXXXX XXXXXX XXXXXXXXXX(X); XXXXX XXXXXX XXXXX XXXXXXXXXXX (XX, SXXXXXXX XXXX)
|
| 81342 |
TRG@ (T XXXX XXXXXXX XXXXXXXX, XXXXX) (XX, XXXXXXXX XXX XXXXXXXX), XXXX XXXXXXXXXXXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX XXXXXX XXXXXXXXXX(X)
|
| 81343 |
PPP2R2B (XXXXXXX XXXXXXXXXXX 2 XXXXXXXXXX XXXXXXX BXXXX) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81344 |
TBP (TATA XXX XXXXXXX XXXXXXX) (XX, XXXXXXXXXXXXXXX XXXXXX) XXXX XXXXXXXX, XXXXXXXXXX XX XXXXXX XXXXXXXX (XX, XXXXXXXX) XXXXXXX
|
| 81345 |
TERT (XXXXXXXXXX XXXXXXX XXXXXXXXXXXXX) (XX, XXXXXXX XXXXXXXXX, XXXXXXXXXXXX XXXXXXXXXX) XXXX XXXXXXXX, XXXXXXXX XXXXXXXX XXXXXXXX (XX, XXXXXXXX XXXXXX)
|
| 81346 |
TYMS (XXXXXXXXXXX XXXXXXXXXX) (XX, 5-XXXXXXXXXXXX/5-FU XXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, XXXXXX XXXXXX XXXXXXX)
|
| 81347 |
SF3B1 (XXXXXXXX XXXXXX [3X] XXXXXXX B1) (XX, XXXXXXXXXXXXXXX XXXXXXXX/XXXXX XXXXXXX XXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, A672T, E622D, L833F, R625C, R625L)
|
| 81348 |
SRSF2 (XXXXXX XXX XXXXXXXX-XXXX XXXXXXXX XXXXXX 2) (XX, XXXXXXXXXXXXXXX XXXXXXXX, XXXXX XXXXXXX XXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, P95H, P95L)
|
| 81349 |
CXXXXXXXXXX (XXXXXX-XXXX) XXXXXXXX XXX XXXXXXXXXXXXXX XXXXXXXXXXX XXXXXXXXXXXXX; XXXXXXXXXXXXX XX XXXXXXX XXXXXXX XXX XXXX XXXXXX XXX XXXX-XX-XXXXXXXXXXXXXX XXXXXXXX, XXX-XXXX XXXXXXXXXX XXXXXXXX
|
| 81350 |
UGT1A1 (UDP XXXXXXXXXXXXXXXXXXXXXXX 1 XXXXXX, XXXXXXXXXXX A1) (XX, XXXX XXXXXXXXXX, XXXXXXXXXX XXXXXXXXXXXX XXXXXXXXXXXXXXXXXX [GXXXXXX XXXXXXXX]) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, *28, *36, *37)
|
| 81351 |
TP53 (XXXXX XXXXXXX 53) (XX, LX-FXXXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXX XXXX XXXXXXXX
|
| 81352 |
TP53 (XXXXX XXXXXXX 53) (XX, LX-FXXXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXXXXX XXXXXXXX XXXXXXXX (XX, 4 XXXXXXXX)
|
| 81353 |
TP53 (XXXXX XXXXXXX 53) (XX, LX-FXXXXXXX XXXXXXXX) XXXX XXXXXXXX; XXXXX XXXXXXXX XXXXXXX
|
| 81355 |
VKORC1 (XXXXXXX K XXXXXXX XXXXXXXXX XXXXXXX, XXXXXXX 1) (XX, XXXXXXXX XXXXXXXXXX), XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, -1639G>A, X.173+1000C>T)
|
| 81357 |
U2AF1 (U2 XXXXX XXXXXXX RNA XXXXXXXXX XXXXXX 1) (XX, XXXXXXXXXXXXXXX XXXXXXXX, XXXXX XXXXXXX XXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXXX (XX, S34F, S34Y, Q157R, Q157P)
|
| 81360 |
ZRSR2 (XXXX XXXXXX CCCH-XXXX, RNA XXXXXXX XXXXX XXX XXXXXX/XXXXXXXX-XXXX 2) (XX, XXXXXXXXXXXXXXX XXXXXXXX, XXXXX XXXXXXX XXXXXXXX) XXXX XXXXXXXX, XXXXXX XXXXXXX(X) (XX, E65XX, E122XX, R448XX)
|
| 81361 |
HBB (XXXXXXXXXX, XXXXXXX XXXX) (XX, XXXXXX XXXX XXXXXX, XXXX XXXXXXXXXXX, XXXXXXXXXXXXXXXX); XXXXXX XXXXXXX(X) (XX, HXS, HXC, HXE)
|
| 81362 |
HBB (XXXXXXXXXX, XXXXXXX XXXX) (XX, XXXXXX XXXX XXXXXX, XXXX XXXXXXXXXXX, XXXXXXXXXXXXXXXX); XXXXX XXXXXXXX XXXXXXX(X)
|
| 81363 |
HBB (XXXXXXXXXX, XXXXXXX XXXX) (XX, XXXXXX XXXX XXXXXX, XXXX XXXXXXXXXXX, XXXXXXXXXXXXXXXX); XXXXXXXXXXX/XXXXXXXX XXXXXXX(X)
|
| 81364 |
HBB (XXXXXXXXXX, XXXXXXX XXXX) (XX, XXXXXX XXXX XXXXXX, XXXX XXXXXXXXXXX, XXXXXXXXXXXXXXXX); XXXX XXXX XXXXXXXX
|
| 81370 |
HLA CXXXX I XXX II XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); HLA-A, -B, -C, -DRB1/3/4/5, XXX -DQB1
|
| 81371 |
HLA CXXXX I XXX II XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); HLA-A, -B, XXX -DRB1 (XX, XXXXXXXXXXXX XXXXXX)
|
| 81372 |
HLA CXXXX I XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); XXXXXXXX (XX, HLA-A, -B, XXX -C)
|
| 81373 |
HLA CXXXX I XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); XXX XXXXX (XX, HLA-A, -B, XX -C), XXXX
|
| 81374 |
HLA CXXXX I XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); XXX XXXXXXX XXXXXXXXXX (XX, B*27), XXXX
|
| 81375 |
HLA CXXXX II XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); HLA-DRB1/3/4/5 XXX -DQB1
|
| 81376 |
HLA CXXXX II XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); XXX XXXXX (XX, HLA-DRB1, -DRB3/4/5, -DQB1, -DQA1, -DPB1, XX -DPA1), XXXX
|
| 81377 |
HLA CXXXX II XXXXXX, XXX XXXXXXXXXX (XX, XXXXXXX XXXXXXXXXXX); XXX XXXXXXX XXXXXXXXXX, XXXX
|
| 81378 |
HLA CXXXX I XXX II XXXXXX, XXXX XXXXXXXXXX (XX, XXXXXXX XX XXXXXX XXXXXX), HLA-A, -B, -C, XXX -DRB1
|
| 81379 |
HLA CXXXX I XXXXXX, XXXX XXXXXXXXXX (XX, XXXXXXX XX XXXXXX XXXXXX); XXXXXXXX (XX, HLA-A, -B, XXX -C)
|
| 81380 |
HLA CXXXX I XXXXXX, XXXX XXXXXXXXXX (XX, XXXXXXX XX XXXXXX XXXXXX); XXX XXXXX (XX, HLA-A, -B, XX -C), XXXX
|
| 81381 |
HLA CXXXX I XXXXXX, XXXX XXXXXXXXXX (XX, XXXXXXX XX XXXXXX XXXXXX); XXX XXXXXX XX XXXXXX XXXXX (XX, B*57:01P), XXXX
|
| 81382 |
HLA CXXXX II XXXXXX, XXXX XXXXXXXXXX (XX, XXXXXXX XX XXXXXX XXXXXX); XXX XXXXX (XX, HLA-DRB1, -DRB3/4/5, -DQB1, -DQA1, -DPB1, XX -DPA1), XXXX
|
| 81383 |
HLA CXXXX II XXXXXX, XXXX XXXXXXXXXX (XX, XXXXXXX XX XXXXXX XXXXXX); XXX XXXXXX XX XXXXXX XXXXX (XX, HLA-DQB1*06:02P), XXXX
|
|
