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)

17: 41276045-41276046 (GRCh37)

185delAG

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)

17: 41258504 (GRCh37)

300T>G

NM_007294.3:c.1961delA

p.Lys654Serfs

rs80357522

17: 43093570 (GRCh38)

17: 41245587 (GRCh37)

2080delA

NM_007294.3:c.1961_1961delA

NM_007294.3:c.3695_3699GTAAA[1]

p.Val1234Glnfs

rs80357609

17: 43091827-43091831 (GRCh38)

17: 41243844-41243848 (GRCh37)

3819delGTAAA

3819del5

3819_3823delGTAAA

NM_007294.3:c.3700_3704delGTAAA

NM_007294.3:c.3752_3755GTCT[1]

p.Ser1253Argfs

rs80357868 

17: 43091772-43091775 (GRCh38)

17: 41243789-41243792 (GRCh37)

3874del4

3875delGTCT

3875_3878delGTCT

NM_007294.3:c.3756_3759delGTCT

NM_007294.3:c.4035delA

p.Glu1346Lysfs

rs80357711

17: 43091496 (GRCh38)

17: 41243513 (GRCh37)

4153delA

4154delA

NM_007294.3:c.5161C>T

p.Gln1721Ter

rs878854957

17: 43063365 (GRCh38)

17: 41215382 (GRCh37)

5280C>T

NM_007294.3:c.5251C>T

p.Arg1751Ter

rs80357123

17: 43057078 (GRCh38)

17: 41209095 (GRCh37)

5370C>T

NM_007294.3:c.5266dupC

p.Gln1756Profs

rs80357906

17: 43057062-43057063 (GRCh38)

17: 41209079-41209080 (GRCh37)

5382insC

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)

13: 32911298-32911301 (GRCh37)

3036delACAA
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)

13: 32914210-32914211 (GRCh37)

5946delCT
5950_5951delCT
5950delCT

NM_000059.3:c.5722_5723delCT

NM_000059.3:c.5946delT 

p.Ser1982Argfs

rs80359550

13: 32340301 (GRCh38)

13: 32914438 (GRCh37)

6174delT

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)

13: 32921023-32921024 (GRCh37)

NM_000059.3:c.6997_6998insT

NM_000059.3:c.7879A>T

p.Ile2627Phe

rs80359014

13: 32362596 (GRCh38)

13: 32936733 (GRCh37)

8107A>T

PALB2 

NM_024675.3:c.172_175delTTGT

p.Gln60Argfs

rs180177143 

16: 23637886-23637889 (GRCh38)

16: 23649207-23649210 (GRCh37)

NM_024675.3:c.168_171TTGT[1]

172_175delTTGT

NM_024675.3:c.509_510delGA

p. Arg170Ilefs

rs515726123

16: 23636036-23636037 (GRCh38)

16: 23647357-23647358 (GRCh37)

509_510delGA

508_509delAG

ATM 

NM_000051.3:c.5932G>T

p.Glu1978Ter

rs587779852

11: 108312424 (GRCh38)

11: 108183151 (GRCh37)