Панель «ГЕРДА-БИОЧИП»
| Ген | Нуклеотидная замена | АК замена | RS | Геномные координаты | Альтернативное название |
BRCA1 | NM_007294.3:c.66_67AG[1] | p.Glu23Valfs | rs80357914 | 17: 43124028-43124029 (GRCh38) | 185delAG |
| 17: 41276045-41276046 (GRCh37) | 185_186delAG | ||||
| 187delAG | |||||
| NM_007294.3:c.68_69delAG | |||||
| NM_007294.3:c.66_67delAG | |||||
NM_007294.3:c.181T>G | p.Cys61Gly | rs28897672 | 17: 43106487 (GRCh38) | 300T>G | |
| 17: 41258504 (GRCh37) | |||||
NM_007294.3:c.1961delA | p.Lys654Serfs | rs80357522 | 17: 43093570 (GRCh38) | 2080delA | |
| 17: 41245587 (GRCh37) | NM_007294.3:c.1961_1961delA | ||||
NM_007294.3:c.3695_3699GTAAA[1] | p.Val1234Glnfs | rs80357609 | 17: 43091827-43091831 (GRCh38) | 3819delGTAAA | |
| 17: 41243844-41243848 (GRCh37) | 3819del5 | ||||
| 3819_3823delGTAAA | |||||
| NM_007294.3:c.3700_3704delGTAAA | |||||
NM_007294.3:c.3752_3755GTCT[1] | p.Ser1253Argfs | rs80357868 | 17: 43091772-43091775 (GRCh38) | 3874del4 | |
| 17: 41243789-41243792 (GRCh37) | 3875delGTCT | ||||
| 3875_3878delGTCT | |||||
| NM_007294.3:c.3756_3759delGTCT | |||||
NM_007294.3:c.4035delA | p.Glu1346Lysfs | rs80357711 | 17: 43091496 (GRCh38) | 4153delA | |
| 17: 41243513 (GRCh37) | 4154delA | ||||
NM_007294.3:c.5161C>T | p.Gln1721Ter | rs878854957 | 17: 43063365 (GRCh38) | 5280C>T | |
| 17: 41215382 (GRCh37) | |||||
NM_007294.3:c.5251C>T | p.Arg1751Ter | rs80357123 | 17: 43057078 (GRCh38) | 5370C>T | |
| 17: 41209095 (GRCh37) | |||||
NM_007294.3:c.5266dupC | p.Gln1756Profs | rs80357906 | 17: 43057062-43057063 (GRCh38) | 5382insC | |
| 17: 41209079-41209080 (GRCh37) | c.5266insC | ||||
| 5382_5383insC | |||||
| 5384insC | |||||
| 5385insC | |||||
| 5383insC | |||||
BRCA2 | NM_000059.3:c.752_753insAG | p.Asp252Glufs | отсутствует | 13: 32330989-32330989 (GRCh38) | |
| 13:32905126-32905127 (GRCh37) | |||||
NM_000059.3:c.1010_1011insTG | p.Asp339Leufs | отсутствует | 13: 32332488-32332489 (GRCh38) | ||
| 13: 32906625-32906626 (GRCh37) | |||||
NM_000059.3:c.2808_2811delACAA | p.Ala938Profs | rs80359351 | 13: 32337161-32337164 (GRCh38) | 3036delACAA | |
| 13: 32911298-32911301 (GRCh37) | 3034del4 | ||||
| 3036_3039delACAA | |||||
| NM_000059.3:c.2806_2809delAAAC | |||||
NM_000059.3:c.5286T>G | p.Tyr1762Ter | отсутствует | 13: 32339641(GRCh38) | ||
| 13: 32913778(GRCh37) | |||||
NM_000059.3:c.5586delG | p.Lys1863Asnfs | отсутствует | 13: 32339941 (GRCh38) | ||
| 13: 32914078 (GRCh37) | |||||
NM_000059.3:c.5718_5719CT[2] | p.Leu1908Argfs | rs80359530 | 13: 32340073-32340074 (GRCh38) | 5946delCT | |
| 13: 32914210-32914211 (GRCh37) | 5950_5951delCT | ||||
| 5950delCT | |||||
| NM_000059.3:c.5722_5723delCT | |||||
NM_000059.3:c.5946delT | p.Ser1982Argfs | rs80359550 | 13: 32340301 (GRCh38) | 6174delT | |
| 13: 32914438 (GRCh37) | |||||
NM_000059.3:c.6070C>T | p.Gln2024Ter | rs80358844 | 13: 32340425 (GRCh38) | ||
| 13: 32914562 (GRCh37) | |||||
NM_000059.3:c.6298С>T | p.Gln2100Ter | rs746661607 | 13: 32340653 (GRCh38) | ||
| 13: 32914790 (GRCh37) | |||||
NM_000059.3:c.6998dupT | p.Pro2334Thrfs | rs754611265 | 13: 32346886-32346887 (GRCh38) | NM_000059.3:c.6997_6998insT | |
| 13: 32921023-32921024 (GRCh37) | |||||
NM_000059.3:c.7879A>T | p.Ile2627Phe | rs80359014 | 13: 32362596 (GRCh38) | 8107A>T | |
| 13: 32936733 (GRCh37) | |||||
PALB2 | NM_024675.3:c.172_175delTTGT | p.Gln60Argfs | rs180177143 | 16: 23637886-23637889 (GRCh38) | NM_024675.3:c.168_171TTGT[1] |
| 16: 23649207-23649210 (GRCh37) | 172_175delTTGT | ||||
NM_024675.3:c.509_510delGA | p. Arg170Ilefs | rs515726123 | 16: 23636036-23636037 (GRCh38) | 509_510delGA | |
| 16: 23647357-23647358 (GRCh37) | 508_509delAG | ||||
ATM | NM_000051.3:c.5932G>T | p.Glu1978Ter | rs587779852 | 11: 108312424 (GRCh38) | |
| 11: 108183151 (GRCh37) |
