- Mar 2021
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.124G>A p.(E42K)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1227_1231delTGTTA p.(Y409X)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1222T>C p.(Y408H)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.110G>A p.(R37H)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.10C>T p.(P4S)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.104T>C p.(L35P)
-
We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.1010T>C p.(L337S)
Tags
- ClinVarID:657328
- CAID:CA288386
- CAID:CA395139401
- ClinVarID:546043
- Variant:6
- ClinVarID:142468
- CAID:CA151222
- CAID:CA279502031
- ClinVarID:126590
- CGType:Variant
- Variant:3
- CAID:CA151212
- Variant:1
- Variant:5
- Variant:7
- CAID:CA16621924
- ClinVarID:126594
- Variant:2
- Variant:4
- CAID:CA294407
- ClinVarID:126582
- CG:BulkAnnotation
Annotators
URL
-
-
www.cell.com www.cell.com
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we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5872C>T p.(Arg1958Ter)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5692C>T p.(Arg1898Cys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5189C>A p.(Pro1730His)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5164A>G p.(Asn1722Asp)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5126C>T p.(Thr1709Met)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5038G>A p.(Ala1680Thr)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5015C>A p.(Ser1672Tyr)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4981G>A p.(Gly1661Arg)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4925G>A p.(Gly1642Glu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4747C>T p.(Arg1583Cys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4720G>A p.(Glu1574Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4382C>G p.(Thr1461Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4346A>G p.(Tyr1449Cys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4283C>T p.(Ala1428Val)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4259G>T p.(Gly1420Val)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4258G>C p.(Gly1420Arg)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4217G>A p.(Gly1406Glu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4213G>A p.(Val1405Met)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4213G>C p.(Val1405Leu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4145G>T p.(Ser1382Ile)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4140C>A p.(Asn1380Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4057G>A p.(Val1353Met)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4037T>C p.(Leu1346Pro)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4035G>T p.(Trp1345Cys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3841G>T p.(Val1281Phe)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3784G>A p.(Gly1262Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3727G>A p.(Asp1243Asn)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3673G>A p.(Glu1225Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3040C>T p.(Pro1014Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2783T>C p.(Leu928Pro)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2780A>G p.(Asn927Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2701G>A p.(Glu901Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2674T>A p.(Phe892Ile)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2635T>C p.(Trp879Arg)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2553C>A p.(Phe851Leu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2516T>C p.(Leu839Pro)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2441G>A p.(Arg814Gln)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2422C>T p.(Arg808Cys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2353G>A p.(Asp785Asn)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2317C>T p.(Pro773Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2314G>A p.(Asp772Asn)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2291T>A p.(Met764Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2236G>A p.(Glu746Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2203G>A p.(Ala735Thr)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2204C>A p.(Ala735Glu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2200A>G p.(Met734Val)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1186G>C p.(Val396Leu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1156G>A p.(Gly386Arg)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1106T>A p.(Met369Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1100G>T p.(Arg367Leu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1099C>T p.(Arg367Cys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1045G>A p.(Asp349Asn)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1038G>T p.(Glu346Asp)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1003T>C p.(Cys335Arg)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.844C>T p.(Arg282Cys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.827T>A p.(Leu276Gln)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.667G>C p.(Val223Leu)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.533C>G p.(Ala178Gly)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.525G>C p.(Lys175Asn)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.407T>C p.(Leu136Pro)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.327C>A p.(Asn109Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.278T>C p.(Phe93Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.250G>A p.(Asp84Asn)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5237C>T p.(Ala1746Val)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4109A>G p.(Asp1370Gly)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3835G>A p.(Val1279Ile)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3751G>A p.(Val1251Met)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2770G>A p.(Val924Ile)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2497G>A p.(Gly833Arg)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2141T>C p.(Val714Ala)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.895T>A p.(Leu299Met)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.856G>T p.(Ala286Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.496G>A p.(Ala166Thr)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5350G>A p.(Glu1784Lys)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4895G>A p.(Arg1632His)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.4294A>G p.(Arg1432Gly)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.3974A>G p.(Asn1325Ser)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.2254G>A p.(Gly752Arg)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1859G>A p.(Arg620His)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.1058C>T p.(Thr353Ile)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.659C>T p.(Thr220Ile)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.361C>T p.(Arg121Trp)
-
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.26G>T p.(Gly9Val)
Tags
- ClinVarID:68055
- Variant:33
- ClinVarID:67721
- CAID:CA016420
- Variant:60
- Variant:20
- ClinVarID:628262
- CAID:CA016059
- Variant:13
- CAID:CA014429
- Variant:24
- Variant:56
- ClinVarID:67957
- ClinVarID:67971
- Variant:47
- ClinVarID:518750
- CAID:CA016482
- Variant:80
- ClinVarID:48295
- ClinVarID:242192
- ClinVarID:67810
- Variant:25
- ClinVarID:67634
- Variant:75
- ClinVarID:201523
- Variant:7
- CAID:CA017871
- CAID:CA017472
- CAID:CA017557
- Variant:8
- CAID:CA016076
- CAID:CA018042
- CAID:CA018087
- CAID:CA019140
- Variant:79
- CAID:CA019516
- CAID:CA352149766
- CAID:CA017494
- ClinVarID:67874
- Variant:67
- Variant:27
- ClinVarID:67720
- CAID:CA016523
- ClinVarID:9377
- CAID:CA352144555
- ClinVarID:67857
- ClinVarID:68049
- Variant:58
- ClinVarID:67737
- Variant:32
- ClinVarID:67635
- CAID:CA015925
- Variant:9
- Variant:73
- ClinVarID:67757
- ClinVarID:67866
- Variant:23
- Variant:31
- Variant:40
- CAID:CA352142022
- Variant:54
- ClinVarID:67829
- Variant:41
- CAID:CA018735
- Variant:53
- CAID:CA352141945
- Variant:17
- CAID:CA019926
- CAID:CA015974
- Variant:76
- CAID:CA352139743
- ClinVarID:67864
- ClinVarID:67751
- CAID:CA064645
- CAID:CA018943
- Variant:3
- ClinVarID:67854
- Variant:36
- Variant:44
- Variant:1
- Variant:46
- CAID:CA016228
- ClinVarID:67852
- Variant:2
- ClinVarID:67807
- CAID:CA352146767
- Variant:26
- ClinVarID:67732
- CAID:CA019148
- CAID:CA018048
- Variant:55
- CAID:CA064275
- CAID:CA015938
- Variant:45
- CAID:CA017513
- ClinVarID:67820
- ClinVarID:229230
- Variant:57
- ClinVarID:9370
- Variant:18
- Variant:82
- ClinVarID:68047
- CAID:CA019844
- ClinVarID:67939
- ClinVarID:67960
- CAID:CA016221
- Variant:83
- ClinVarID:9396
- ClinVarID:67876
- Variant:38
- CAID:CA058963
- ClinVarID:67742
- CAID:CA017837
- Variant:72
- Variant:77
- ClinVarID:67640
- CAID:CA019709
- CAID:CA017547
- ClinVarID:201546
- CAID:CA017679
- Variant:69
- ClinVarID:67723
- CAID:CA017341
- CAID:CA018079
- CAID:CA057036
- Variant:50
- CAID:CA016428
- ClinVarID:67867
- Variant:29
- Variant:64
- CAID:CA017955
- CAID:CA018812
- CAID:CA352145324
- ClinVarID:67727
- CGType:Variant
- CAID:CA014455
- Variant:34
- CAID:CA352149916
- ClinVarID:67920
- CAID:CA064027
- ClinVarID:67869
- ClinVarID:9399
- Variant:39
- ClinVarID:67642
- CAID:CA019856
- ClinVarID:67830
- Variant:68
- CAID:CA019833
- Variant:42
- CAID:CA352143498
- Variant:6
- ClinVarID:67734
- CAID:CA016002
- Variant:35
- Variant:22
- Variant:21
- ClinVarID:67877
- ClinVarID:67758
- ClinVarID:67719
- CAID:CA016274
- CAID:CA016490
- CAID:CA014305
- CAID:CA016384
- Variant:63
- CAID:CA016995
- ClinVarID:67940
- Variant:28
- CAID:CA352143353
- CAID:CA016182
- CAID:CA017946
- CAID:CA019690
- Variant:11
- CAID:CA014324
- CAID:CA018503
- CAID:CA018516
- ClinVarID:67951
- Variant:14
- ClinVarID:67736
- CAID:CA018163
- Variant:19
- CAID:CA016475
- ClinVarID:67884
- CAID:CA017796
- CAID:CA060381
- CAID:CA059817
- Variant:61
- ClinVarID:67752
- Variant:15
- Variant:71
- Variant:81
- Variant:48
- Variant:74
- CAID:CA014257
- Variant:66
- CAID:CA018904
- ClinVarID:67861
- Variant:37
- ClinVarID:48294
- ClinVarID:67918
- Variant:5
- Variant:65
- CAID:CA017969
- Variant:51
- CAID:CA014336
- ClinVarID:68031
- CAID:CA016206
- Variant:43
- ClinVarID:67986
- ClinVarID:68045
- Variant:4
- Variant:52
- CAID:CA017808
- ClinVarID:67631
- Variant:30
- ClinVarID:67756
- CAID:CA017913
- ClinVarID:67787
- Variant:62
- CAID:CA017399
- CAID:CA017888
- ClinVarID:67633
- Variant:10
- ClinVarID:463345
- Variant:70
- Variant:16
- Variant:49
- ClinVarID:201506
- ClinVarID:67952
- CAID:CA018848
- CAID:CA018747
- CAID:CA019045
- Variant:59
- ClinVarID:67824
- CAID:CA018863
- Variant:78
- ClinVarID:67873
- ClinVarID:67747
- Variant:12
- CG:BulkAnnotation
Annotators
URL
-
- Feb 2021
-
jmg.bmj.com jmg.bmj.com
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.844C>T p.(Arg282Trp)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.736A>G p.(Met246Val)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.638G>A p.(Arg213Gln)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.535C>T p.(His179Tyr)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM000546.5:c.(?-202)(29+1-28+1)del p.?
Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.761T>C p.(Ile254Thr)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.572C>G p.(Pro191Arg)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.*1175A>C
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.-117G>T
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.792_794del p.(Leu265del)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.393_395del p.(Asn131del)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.323_325del p.(Gly108_Phe109delinsVal)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.1054G>T p.(Asp352Tyr)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.1043T>C p.(Leu348Ser)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.847C>T p.(Arg283Cys)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.833C>G p.(Pro278Arg)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.329G>A p.(Arg110His)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.472C>T p.(Arg158Cys)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.402T>G p.(Phe134Leu)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.723del p.(Cys242Alafs*5)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.314G>A p.(Gly105Asp)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.215C>A p.(Pro72His)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.704A>G p.(Asn235Ser)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.770del p.(Leu257Argfs*88)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.375G>A p.?
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.542G>A p.(Arg181His)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.1010G>A p.(Arg337His)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.910A>G p.(Thr304Ala)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.904G>A p.(Gly302Arg)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.455del p.(Pro152Argfs*18)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.869G>A p.(Arg290His)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.845G>C p.(Arg282Pro)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.685T>C p.(Cys229Arg)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.646G>A p.(Val216Met)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.578A>C p.(His193Pro)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.577C>G p.(His193Asp)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.523C>G p.(Arg175Gly)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.323G>A p.(Gly108Asp)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.31G>C p.(Glu11Gln)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.820del p.(Val274Phefs*71)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.690del p.(Thr231Profs*16)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.673-2A>G p.?
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.632_641del p.(Thr211Ilefs*33)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.491_494del p.(Lys164Serfs*5)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.742C>T p.(Arg248Trp)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.323_329dup p.(Leu111Phefs*40)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.216dup p.(Val73Argfs*76)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.818G>A p.(Arg273His)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.743G>A p.(Arg248Gln)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.524G>A p.(Arg175His)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM000546.5:c.(?-202)(*1207?)del p.?
Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.
Tags
- Variant:33
- CAID:CA000071
- ClinVarID:177825
- CAID:CA000251
- ClinVarID:481148
- CAID:CA000102
- CAID:CA000123
- ClinVarID:142702
- Variant:50
- Variant:20
- Variant:29
- Variant:13
- Variant:24
- CAID:CA000272
- ClinVarID:185120
- ClinVarID:127824
- CGType:Variant
- Variant:47
- CAID:CA000343
- ClinVarID:41723
- Variant:34
- ClinVarID:376659
- ClinVarID:458555
- ClinVarID:142320
- ClinVarID:135359
- CAID:CA000225
- Variant:25
- ClinVarID:420137
- CAID:CA1139768487
- CAID:CA397839547
- ClinVarID:182957
- Variant:7
- ClinVarID:12379
- ClinVarID:376649
- ClinVarID:12366
- Variant:8
- Variant:39
- CAID:CA1139768485
- CAID:CA397837761
- CAID:CA397832246
- CAID:CA000144
- Variant:42
- CAID:CA10584593
- Variant:27
- Variant:6
- Variant:35
- ClinVarID:127808
- Variant:22
- Variant:21
- CAID:CA645369686
- CAID:CA16603061
- CAID:CA397842793
- CAID:CA000073
- CAID:CA16603074
- Variant:32
- CAID:CA645588993
- Variant:9
- Variant:28
- ClinVarID:12374
- Variant:11
- ClinVarID:182965
- Variant:31
- Variant:23
- Variant:40
- CAID:CA397832401
- ClinVarID:127816
- Variant:14
- CAID:CA16603033
- CAID:CA497717451
- ClinVarID:127812
- Variant:41
- Variant:19
- ClinVarID:246343
- Variant:17
- CAID:CA000382
- CAID:CA16620623
- Variant:15
- ClinVarID:376613
- ClinVarID:141114
- CAID:CA645588668
- CAID:CA497925664
- CAID:CA1139768486
- Variant:48
- CAID:CA497716198
- Variant:3
- Variant:36
- CAID:CA16603034
- Variant:1
- CAID:CA397836336
- Variant:37
- ClinVarID:376612
- CAID:CA000302
- ClinVarID:376644
- Variant:44
- ClinVarID:12364
- ClinVarID:12356
- Variant:46
- Variant:5
- Variant:2
- CAID:CA1139768484
- CAID:CA000457
- ClinVarID:127815
- Variant:51
- CAID:CA16603066
- Variant:4
- Variant:26
- ClinVarID:428860
- Variant:43
- CAID:CA000493
- Variant:30
- CAID:CA000259
- CAID:CA397844631
- Variant:45
- Variant:10
- CAID:CA000468
- CAID:CA000434
- CAID:CA000049
- Variant:16
- Variant:18
- Variant:49
- ClinVarID:12347
- CAID:CA000387
- ClinVarID:634779
- CAID:CA000308
- ClinVarID:127825
- CAID:CA645588451
- CAID:CA000013
- CAID:CA000256
- CAID:CA000374
- Variant:38
- ClinVarID:35555
- CAID:CA000106
- Variant:12
- CAID:CA000454
- ClinVarID:100815
- ClinVarID:127821
Annotators
URL
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