Панель «ГЕРДА-БИОЧИП»

ГенНуклеотидная заменаАК заменаRSГеномные координатыАльтернативное 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)