Unique variants in the PIK3CA gene

This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_006218.2 transcript reference sequence.

293 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-76-19T>C r.(=) p.(=) - likely benign g.178916519T>C g.179198731T>C PIK3CA(NM_006218.2):c.-76-19T>C - KCNMB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1A>G r.(?) p.(Met1?) - VUS g.178916614A>G g.179198826A>G PIK3CA(NM_006218.2):c.1A>G (p.M1?) - KCNMB3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4C>T r.(?) p.(Pro2Ser) - NA g.178916617C>T - chr3_178916617_C_T - PIK3CA_000034 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.11G>C r.(?) p.(Arg4Pro) - VUS g.178916624G>C g.179198836G>C PIK3CA(NM_006218.2):c.11G>C (p.(Arg4Pro)) - PIK3CA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.23G>A r.(?) p.(Gly8Asp) - NA g.178916636G>A - chr3_178916636_G_A - PIK3CA_000035 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.29T>A r.(?) p.(Leu10Gln) - NA g.178916642T>A - chr3_178916642_T_A - PIK3CA_000036 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.53C>T r.(?) p.(Pro18Leu) - NA g.178916666C>T - chr3_178916666_C_T - PIK3CA_000037 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.83A>G r.(?) p.(Asn28Ser) - NA g.178916696A>G - chr3_178916696_A_G - PIK3CA_000038 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.88A>G r.(?) p.(Met30Val) - NA g.178916701A>G - chr3_178916701_A_G - PIK3CA_000039 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.91A>C r.(?) p.(Ile31Leu) - NA g.178916704A>C - chr3_178916704_A_C - PIK3CA_000040 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.93A>G r.(?) p.(Ile31Met) - NA g.178916706A>G - chr3_178916706_A_G - PIK3CA_000041 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.133A>G r.(?) p.(Ile45Val) - NA g.178916746A>G - chr3_178916746_A_G - PIK3CA_000042 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.140A>G r.(?) p.(His47Arg) - NA g.178916753A>G - chr3_178916753_A_G - PIK3CA_000043 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.158C>T r.(?) p.(Ala53Val) - NA g.178916771C>T - chr3_178916771_C_T - PIK3CA_000044 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.176A>C r.(?) p.(His59Pro) - NA g.178916789A>C - chr3_178916789_A_C - PIK3CA_000045 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases, 3/53461 controls - - - BRIDGES consortium
?/. 1 - c.178C>A r.(?) p.(Gln60Lys) - NA g.178916791C>A - chr3_178916791_C_A - PIK3CA_000046 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - BRIDGES consortium
?/. 1 - c.185T>C r.(?) p.(Leu62Pro) - NA g.178916798T>C - chr3_178916798_T_C - PIK3CA_000047 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.189A>C r.(?) p.(Gln63His) - NA g.178916802A>C - chr3_178916802_A_C - PIK3CA_000048 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.211G>A r.(?) p.(Val71Ile) - NA g.178916824G>A - chr3_178916824_G_A - PIK3CA_000049 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.232G>A r.(?) p.(Glu78Lys) - NA g.178916845G>A - chr3_178916845_G_A - PIK3CA_000050 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 - c.241G>A r.(?) p.(Glu81Lys) - pathogenic g.178916854G>A g.179199066G>A PIK3CA(NM_006218.2):c.241G>A (p.E81K) - PIK3CA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.260G>A r.(?) p.(Arg87Lys) - NA g.178916873G>A - chr3_178916873_G_A - PIK3CA_000051 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+?/. 1 - c.263G>A r.(?) p.(Arg88Gln) - likely pathogenic g.178916876G>A g.179199088G>A PIK3CA(NM_006218.2):c.263G>A (p.R88Q) - PIK3CA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.277C>T r.(?) p.(Arg93Trp) - NA g.178916890C>T - chr3_178916890_C_T - PIK3CA_000052 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
-?/. 1 - c.287A>G r.(?) p.(Gln96Arg) - likely benign g.178916900A>G g.179199112A>G PIK3CA(NM_006218.2):c.287A>G (p.(Gln96Arg)) - KCNMB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.318C>A r.(?) p.(Gly106=) - likely benign g.178916931C>A g.179199143C>A PIK3CA(NM_006218.2):c.318C>A (p.G106=) - KCNMB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/. 1 - c.328_330del r.(?) p.(Glu110del) - likely pathogenic g.178916941_178916943del g.179199153_179199155del PIK3CA(NM_006218.2):c.328_330delGAA (p.E110del) - KCNMB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.335T>A r.(?) p.(Ile112Asn) - pathogenic g.178916948T>A g.179199160T>A - - PIK3CA_000007 de novo PIK3CA variant with no evidence for somatic mosaicism PubMed: Di Donato 2016, Journal: Di Donato 2016 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.341A>G r.(?) p.(Asn114Ser) - NA g.178916954A>G - chr3_178916954_A_G - PIK3CA_000053 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 5/53461 controls - - - BRIDGES consortium
-?/. 2 - c.352+11A>G r.(=) p.(=) - likely benign g.178916976A>G g.179199188A>G PIK3CA(NM_006218.2):c.352+11A>G - PIK3CA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
+/+, +?/. 2 3 c.353G>A r.(?) p.(Gly118Asp) - likely pathogenic, pathogenic (dominant) g.178917478G>A g.179199690G>A g.56168G>A, PIK3CA(NM_006218.2):c.353G>A (p.G118D) - PIK3CA_000006 VKGL data sharing initiative Nederland PubMed: Limaye 2015 - - CLASSIFICATION record, Somatic - - - - - Antonella Mendola, VKGL-NL_AMC
?/. 1 - c.361A>G r.(?) p.(Ile121Val) - NA g.178917486A>G - chr3_178917486_A_G - PIK3CA_000054 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - BRIDGES consortium
-/., -?/. 3 - c.363C>T r.(?) p.(Ile121=) - benign, likely benign g.178917488C>T g.179199700C>T PIK3CA(NM_006218.2):c.363C>T (p.I121=) - PIK3CA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.367A>C r.(?) p.(Met123Leu) - NA g.178917492A>C - chr3_178917492_A_C - PIK3CA_000055 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.388A>G r.(?) p.(Met130Val) - NA g.178917513A>G - chr3_178917513_A_G - PIK3CA_000056 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.400C>T r.(?) p.(Pro134Ser) - NA g.178917525C>T - chr3_178917525_C_T - PIK3CA_000057 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.410A>G r.(?) p.(Gln137Arg) - NA g.178917535A>G - chr3_178917535_A_G - PIK3CA_000058 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.419G>A r.(?) p.(Arg140Gln) - NA g.178917544G>A - chr3_178917544_G_A - PIK3CA_000059 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.422G>A r.(?) p.(Arg141Lys) - NA g.178917547G>A - chr3_178917547_G_A - PIK3CA_000060 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.429T>G r.(?) p.(Ile143Met) - NA g.178917554T>G - chr3_178917554_T_G - PIK3CA_000061 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.436G>A r.(?) p.(Val146Ile) - NA g.178917561G>A - chr3_178917561_G_A - PIK3CA_000062 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.442A>G r.(?) p.(Lys148Glu) - NA g.178917567A>G - chr3_178917567_A_G - PIK3CA_000063 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.451G>A r.(?) p.(Val151Met) - NA g.178917576G>A - chr3_178917576_G_A - PIK3CA_000064 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.457C>A r.(?) p.(Leu153Ile) - NA g.178917582C>A - chr3_178917582_C_A - PIK3CA_000065 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.466C>T r.(?) p.(Leu156Phe) - NA g.178917591C>T - chr3_178917591_C_T - PIK3CA_000066 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/., ?/. 3 - c.470A>G r.(?) p.(Asn157Ser) - likely benign, NA g.178917595A>G g.179199807A>G chr3_178917595_A_G, PIK3CA(NM_006218.2):c.470A>G (p.N157S) - KCNMB3_000006 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/53461 controls, 2/60466 cases - - - VKGL-NL_Rotterdam, BRIDGES consortium
?/. 2 - c.476C>T r.(?) p.(Pro159Leu) - NA g.178917601C>T - chr3_178917601_C_T - PIK3CA_000067 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.485G>C r.(?) p.(Arg162Thr) - NA g.178917610G>C - chr3_178917610_G_C - PIK3CA_000068 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.487G>T r.(?) p.(Ala163Ser) - NA g.178917612G>T - chr3_178917612_G_T - PIK3CA_000069 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.503C>G r.(?) p.(Pro168Arg) - NA g.178917628C>G - chr3_178917628_C_G - PIK3CA_000070 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.524C>T r.(?) p.(Pro175Leu) - NA g.178917649C>T - chr3_178917649_C_T - PIK3CA_000071 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.547A>C r.(?) p.(Asn183His) - NA g.178917672A>C - chr3_178917672_A_C - PIK3CA_000072 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
-?/., ?/. 3 - c.548A>G r.(?) p.(Asn183Ser) - likely benign, NA g.178917673A>G g.179199885A>G chr3_178917673_A_G, PIK3CA(NM_006218.2):c.548A>G (p.N183S) - PIK3CA_000031 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases, 2/53461 controls - - - VKGL-NL_Rotterdam, BRIDGES consortium
?/. 2 - c.586G>A r.(?) p.(Val196Ile) - NA g.178919101G>A - chr3_178919101_G_A - PIK3CA_000073 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.623C>G r.(?) p.(Thr208Ser) - NA g.178919138C>G - chr3_178919138_C_G - PIK3CA_000074 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - - - BRIDGES consortium
?/. 1 - c.631A>G r.(?) p.(Ile211Val) - NA g.178919146A>G - chr3_178919146_A_G - PIK3CA_000075 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.632T>C r.(?) p.(Ile211Thr) - NA g.178919147T>C - chr3_178919147_T_C - PIK3CA_000076 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.635A>G r.(?) p.(Asn212Ser) - NA g.178919150A>G - chr3_178919150_A_G - PIK3CA_000077 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.640G>A r.(?) p.(Asp214Asn) - NA g.178919155G>A - chr3_178919155_G_A - PIK3CA_000078 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.688C>T r.(?) p.(Arg230*) - NA g.178919203C>T - chr3_178919203_C_T - PIK3CA_000079 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.696G>T r.(?) p.(Met232Ile) - NA g.178919211G>T - chr3_178919211_G_T - PIK3CA_000080 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.698T>C r.(?) p.(Leu233Ser) - NA g.178919213T>C - chr3_178919213_T_C - PIK3CA_000081 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.703T>C r.(?) p.(Ser235Pro) - NA g.178919218T>C - chr3_178919218_T_C - PIK3CA_000082 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.704C>T r.(?) p.(Ser235Phe) - NA g.178919219C>T - chr3_178919219_C_T - PIK3CA_000083 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.706T>C r.(?) p.(Ser236Pro) - NA g.178919221T>C - chr3_178919221_T_C - PIK3CA_000084 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.714A>C r.(?) p.(Gln238His) - NA g.178919229A>C - chr3_178919229_A_C - PIK3CA_000085 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.741G>C r.(?) p.(Gln247His) - VUS g.178919256G>C g.179201468G>C - - PIK3CA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.742G>A r.(?) p.(Gly248Ser) - NA g.178919257G>A - chr3_178919257_G_A - PIK3CA_000086 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.773A>G r.(?) p.(Asp258Gly) - NA g.178919288A>G - chr3_178919288_A_G - PIK3CA_000087 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.781T>C r.(?) p.(Phe261Leu) - NA g.178919296T>C - chr3_178919296_T_C - PIK3CA_000088 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.815A>G r.(?) p.(Tyr272Cys) - NA, VUS g.178921333A>G g.179203545A>G chr3_178921333_A_G - KCNMB3_000018 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_Nijmegen, BRIDGES consortium
?/. 2 - c.817A>G r.(?) p.(Ile273Val) - NA g.178921335A>G - chr3_178921335_A_G - PIK3CA_000089 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 1 - c.823A>G r.(?) p.(Ser275Gly) - NA g.178921341A>G - chr3_178921341_A_G - PIK3CA_000090 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.824G>A r.(?) p.(Ser275Asn) - NA g.178921342G>A - chr3_178921342_G_A - PIK3CA_000091 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.832A>G r.(?) p.(Met278Val) - NA g.178921350A>G - chr3_178921350_A_G - PIK3CA_000092 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.839G>C r.(?) p.(Gly280Ala) - NA g.178921357G>C - chr3_178921357_G_C - PIK3CA_000093 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.865G>A r.(?) p.(Ala289Thr) - NA g.178921383G>A - chr3_178921383_G_A - PIK3CA_000094 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.866C>T r.(?) p.(Ala289Val) - NA g.178921384C>T - chr3_178921384_C_T - PIK3CA_000095 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.871G>A r.(?) p.(Glu291Lys) - NA g.178921389G>A - chr3_178921389_G_A - PIK3CA_000096 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.872A>G r.(?) p.(Glu291Gly) - NA g.178921390A>G - chr3_178921390_A_G - PIK3CA_000097 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.884C>G r.(?) p.(Ser295Cys) - NA g.178921402C>G - chr3_178921402_C_G - PIK3CA_000098 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.895A>G r.(?) p.(Met299Val) - NA g.178921413A>G - chr3_178921413_A_G - PIK3CA_000099 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.901T>C r.(?) p.(Cys301Arg) - NA g.178921419T>C - chr3_178921419_T_C - PIK3CA_000100 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.901T>G r.(?) p.(Cys301Gly) - NA g.178921419T>G - chr3_178921419_T_G - PIK3CA_000101 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 3/53461 controls - - - BRIDGES consortium
?/. 1 - c.910A>G r.(?) p.(Met304Val) - NA g.178921428A>G - chr3_178921428_A_G - PIK3CA_000102 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.919T>C r.(?) p.(Tyr307His) - NA g.178921437T>C - chr3_178921437_T_C - PIK3CA_000103 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.923C>G r.(?) p.(Ser308Cys) - NA g.178921441C>G - chr3_178921441_C_G - PIK3CA_000104 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - BRIDGES consortium
?/. 1 - c.929G>A r.(?) p.(Arg310His) - NA g.178921447G>A - chr3_178921447_G_A - PIK3CA_000105 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.931A>G r.(?) p.(Ile311Val) - NA g.178921449A>G - chr3_178921449_A_G - PIK3CA_000106 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 6/60466 cases - - - BRIDGES consortium
?/. 1 - c.953T>C r.(?) p.(Met318Thr) - NA g.178921471T>C - chr3_178921471_T_C - PIK3CA_000107 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.954G>A r.(?) p.(Met318Ile) - NA g.178921472G>A - chr3_178921472_G_A - PIK3CA_000108 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 1 - c.971C>T r.(?) p.(Thr324Ile) - NA g.178921489C>T - chr3_178921489_C_T - PIK3CA_000109 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.973A>G r.(?) p.(Lys325Glu) - NA g.178921491A>G - chr3_178921491_A_G - PIK3CA_000110 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.974A>C r.(?) p.(Lys325Thr) - NA g.178921492A>C - chr3_178921492_A_C - PIK3CA_000111 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.980T>C r.(?) p.(Leu327Pro) - NA g.178921498T>C - chr3_178921498_T_C - PIK3CA_000112 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.992A>G r.(?) p.(Asn331Ser) - NA g.178921510A>G - chr3_178921510_A_G - PIK3CA_000113 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.995G>A r.(?) p.(Ser332Asn) - NA g.178921513G>A - chr3_178921513_G_A - PIK3CA_000114 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.998C>T r.(?) p.(Ala333Val) - NA g.178921516C>T - chr3_178921516_C_T - PIK3CA_000115 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls, 5/60466 cases - - - BRIDGES consortium
?/. 1 - c.1005A>C r.(?) p.(Arg335Ser) - NA g.178921523A>C - chr3_178921523_A_C - PIK3CA_000116 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 - c.1030G>A r.(?) p.(Val344Met) - pathogenic g.178921548G>A g.179203760G>A - - KCNMB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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