All variants in the PDHA1 gene

Information The variants shown are described using the NM_000284.3 transcript reference sequence.

109 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.-88G>A r.(=) p.(=) - benign g.19362068G>A g.19343950G>A - - PDHA1_000010 - - - rs5955751 Germline - frequency up to 10% - 0 - Andreas Laner
?/. - c.-20G>A r.(?) p.(=) - VUS g.19362136G>A g.19344018G>A PDHA1(NM_000284.4):c.-20G>A - PDHA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.57+1663del r.(=) p.(=) - benign g.19363875del g.19345757del PDHA1(NM_000284.4):c.57+1663delC - PDHA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.57+2455T>A r.(=) p.(=) - likely benign g.19364667T>A g.19346549T>A PDHA1(NM_001173454.1):c.97T>A (p.S33T) - MAP3K15_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.57+2482G>A r.(=) p.(=) - likely benign g.19364694G>A g.19346576G>A PDHA1(NM_001173454.1):c.124G>A (p.(Gly42Ser)) - PDHA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.57+2513C>G r.(=) p.(=) - VUS g.19364725C>G g.19346607C>G PDHA1(NM_000284.4):c.57+2513C>G - PDHA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.57+2531T>A r.(=) p.(=) - VUS g.19364743T>A g.19346625T>A - - MAP3K15_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 c.65G>C r.(?) p.(Arg22Thr) ACMG VUS g.19367437G>C g.19349319G>C - - PDHA1_000029 - PubMed: Tumienė 2018 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.69G>A r.(?) p.(Val23=) - likely benign g.19367441G>A g.19349323G>A PDHA1(NM_001173454.2):c.183G>A (p.V61=) - PDHA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.117+6A>C r.(=) p.(=) - likely benign g.19367495A>C g.19349377A>C PDHA1(NM_000284.3):c.117+6A>C (p.(=)) - MAP3K15_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.207G>C r.(?) p.(Gln69His) - VUS g.19368144G>C g.19350026G>C PDHA1(NM_000284.4):c.207G>C (p.Q69H) - MAP3K15_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.214C>T r.(?) p.(Arg72Cys) - pathogenic g.19368151C>T g.19350033C>T 328C>T - PDHA1_000041 - PubMed: Zhu 2015 - - De novo - - - 0 - Johan den Dunnen
?/. - c.215G>A r.(?) p.(Arg72His) - VUS g.19368152G>A g.19350034G>A - - PDHA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.262C>T r.(?) p.(Arg88Cys) - pathogenic (dominant) g.19368199C>T g.19350081C>T - - PDHA1_000033 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
?/. - c.291G>A r.spl? p.(?) - VUS g.19368228G>A g.19350110G>A - - PDHA1_000034 mosaic PubMed: Pronicka 2016 - - De novo - 1/113 cases - 0 - Johan den Dunnen
./. - c.328delinsAGA r.(?) p.(Pro110Argfs*71) - pathogenic g.19369435delinsAGA g.19351317delinsAGA NM_000284.3:c.328delinsAGA (Pro110Argfs*71) - PDHA1_000031 - PubMed: de Ligt 2012 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.364G>C r.(?) p.(Gly122Arg) - likely pathogenic g.19369471G>C g.19351353G>C - - MAP3K15_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 4 c.394C>T r.(?) p.(Arg132*) ACMG likely pathogenic (dominant) g.19369501C>T - - - PDHA1_000045 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - Andreas Laner
-?/. - c.406G>A r.(?) p.(Ala136Thr) - likely benign g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.406G>A r.(?) p.(Ala136Thr) - likely benign g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.406G>A r.(?) p.(Ala136Thr) - VUS g.19369513G>A g.19351395G>A PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.406G>A r.(?) p.(Ala136Thr) - likely benign g.19369513G>A - PDHA1(NM_000284.3):c.406G>A (p.(Ala136Thr)), PDHA1(NM_000284.4):c.406G>A (p.A136T), PDHA1(NM_001173454.1):c.520G>A (p.A174T) - PDHA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 5 c.448G>A r.(?) p.(Gly150Arg) - likely pathogenic g.19371229G>A g.19353111G>A - - PDHA1_000012 - PubMed: Chao 2016, Journal: Chao 2016 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.460C>G r.spl p.(His154Asp) - pathogenic (recessive) g.19371241C>G g.19353123C>G - - PDHA1_000040 - - - - De novo - - - 0 - Yan Cai
+?/. 5 c.483C>T r.(?) p.(Tyr161=) - likely pathogenic g.19371264C>T g.19353146C>T - - PDHA1_000043 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.510+26T>C r.(=) p.(=) - likely benign g.19371317T>C g.19353199T>C PDHA1(NM_000284.4):c.510+26T>C - PDHA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.517C>G r.(?) p.(Leu173Val) - VUS g.19372615C>G g.19354497C>G PDHA1(NM_000284.4):c.517C>G (p.L173V) - MAP3K15_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.604-15C>T r.(=) p.(=) - benign g.19373452C>T g.19355334C>T - - PDHA1_000009 - - - rs13440874 Germline - frequency up to 12% - 0 - Andreas Laner
-/. - c.604-10C>T r.(=) p.(=) - benign g.19373457C>T g.19355339C>T PDHA1(NM_001173454.1):c.718-10C>T - MAP3K15_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.685A>G r.(?) p.(Met229Val) ACMG VUS g.19373548A>G g.19355430A>G - - PDHA1_000038 ACMG grading: PM2,PP3 - - - Germline - - - 0 - Andreas Laner
?/. - c.692C>A r.(?) p.(Thr231Lys) - VUS g.19373555C>A g.19355437C>A - - PDHA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.693G>A r.(?) p.(Thr231=) - likely benign g.19373556G>A g.19355438G>A PDHA1(NM_001173454.1):c.807G>A (p.T269=) - MAP3K15_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.708G>A r.(?) p.(Ala236=) - likely benign g.19373571G>A g.19355453G>A PDHA1(NM_001173454.1):c.822G>A (p.A274=) - MAP3K15_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.759+10C>G r.(=) p.(=) - likely benign g.19373632C>G - PDHA1(NM_001173454.1):c.873+10C>G - MAP3K15_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 7i c.759+40_759+45dup r.(=) p.(=) - likely benign g.19373662_19373667dup g.19355544_19355549dup 759+25_759+26insGGCCAA - PDHA1_000003 - - - - Germline - - - 0 - Yu Sun
-?/. 7i c.759+40_759+45dup r.(=) p.(=) - likely benign g.19373662_19373667dup g.19355544_19355549dup 759+25_759+26insGGCCAA - PDHA1_000003 - - - - Germline - - - 0 - Yu Sun
+?/. - c.784G>C r.(?) p.(Val262Leu) ACMG likely pathogenic g.19373828G>C g.19355710G>C - - PDHA1_000008 analysis of the mother suggests de novo status in the affected patient - - - De novo yes - - 0 - Andreas Laner
?/. - c.788G>C r.(?) p.(Arg263Pro) - VUS g.19373832G>C g.19355714G>C PDHA1(NM_001173454.1):c.902G>C (p.R301P) - PDHA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. 8 c.795A>G r.(?) p.(=) - likely benign g.19373839A>G g.19355721A>G A265A - PDHA1_000030 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - Lucy Raymond
?/. - c.796A>G r.(?) p.(Thr266Ala) ACMG VUS g.19373840A>G g.19355722A>G - - PDHA1_000039 ACMG grading: BP4,PM2 - - - Germline - - - 0 - Andreas Laner
-?/. - c.798A>G r.(?) p.(Thr266=) - likely benign g.19373842A>G - PDHA1(NM_001173454.1):c.912A>G (p.T304=) - MAP3K15_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.825_830del r.(?) p.(Lys277_Gly278del) - VUS g.19373869_19373874del g.19355751_19355756del - - PDHA1_000005 - - - - Germline - - - 0 - Andreas Laner
-/. - c.831+15C>T r.(=) p.(=) - benign g.19373890C>T g.19355772C>T - - PDHA1_000006 - - - rs190157093 Germline - - - 0 - Andreas Laner
-?/. - c.831+15C>T r.(=) p.(=) - likely benign g.19373890C>T g.19355772C>T PDHA1(NM_001173454.2):c.945+15C>T - PDHA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 9 c.832G>A r.(spl?) p.(Gly278Arg) - pathogenic g.19375770G>A g.19357652G>A - - PDHA1_000004 - - - - De novo - - - 0 - Claudio Asencio Salcedo
-?/. - c.844A>C r.(?) p.(Met282Leu) - likely benign g.19375782A>C g.19357664A>C PDHA1(NM_001173454.1):c.958A>C (p.M320L) - PDHA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 9 c.844A>C r.(?) p.(Met282Leu) - VUS g.19375782A>C g.19357664A>C M282L - PDHA1_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.844A>C r.(?) p.(Met282Leu) - benign g.19375782A>C g.19357664A>C - - PDHA1_000022 46 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229137 Germline - 46/2793 individuals - 0 - Mohammed Faruq
-/. - c.844A>C r.(?) p.(Met282Leu) - benign g.19375782A>C g.19357664A>C - - PDHA1_000022 19 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229137 Germline - 19/2793 individuals - 0 - Mohammed Faruq
+/. - c.858_861dup r.(?) p.(Arg288Leufs*10) - pathogenic (dominant) g.19375796_19375799dup g.19357678_19357681dup 856_859dupACTT - PDHA1_000036 - PubMed: Pronicka 2016 - - De novo - 1/113 cases - 0 - Johan den Dunnen
+/. - c.858_861dup r.(?) p.(Arg288LeufsTer10) - pathogenic g.19375796_19375799dup - PDHA1(NM_000284.3):c.858_861dupTTAC (p.R288Lfs*10) - PDHA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.883A>G r.(?) p.(Ser295Gly) - VUS g.19375821A>G - PDHA1(NM_001173454.1):c.997A>G (p.S333G) - MAP3K15_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.905G>A r.(?) p.(Arg302His) - VUS g.19377039G>A g.19358921G>A - - PDHA1_000032 - - - - De novo - - - 0 - Nada Al Tassan
+/. - c.933_935del r.(?) p.(Arg311del) - pathogenic (dominant) g.19377067_19377069del g.19358949_19358951del - - PDHA1_000035 - PubMed: Pronicka 2016 - - De novo - 1/113 cases - 0 - Johan den Dunnen
+/. - c.936_939del r.(?) p.(Ser312ArgfsTer13) - pathogenic g.19377070_19377073del - PDHA1(NM_001173454.1):c.1050_1053delTAAG (p.S350Rfs*13) - MAP3K15_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.999A>C r.(?) p.(Glu333Asp) - benign g.19377133A>C g.19359015A>C PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D) - PDHA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.999A>C r.(?) p.(Glu333Asp) - VUS g.19377133A>C g.19359015A>C PDHA1(NM_000284.3):c.999A>C (p.(Glu333Asp)), PDHA1(NM_001173454.1):c.1113A>C (p.E371D) - PDHA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 11 c.1000_1002del r.(?) p.(Glu334del) ACMG likely pathogenic g.19377134_19377136del g.19359016_19359018del - - PDHA1_000042 - - - - De novo yes - - 0 - Wenjuan Qiu
?/. - c.1006_1008+23dup r.spl? p.? - VUS g.19377140_19377165dup g.19359022_19359047dup PDHA1(NM_000284.3):c.1005_1006insAAGGTACAGTCACTTGTTCATGGTGG (p.?) - MAP3K15_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 10i c.1009-31_1009-8del r.spl p.? - VUS g.19377576_19377599del g.19359458_19359481del - - PDHA1_000044 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1025_1032del r.(?) p.(Val342Glyfs*3) - pathogenic g.19377623_19377630del g.19359505_19359512del - - PDHA1_000037 - - - - Unknown - - - 0 - IMGAG
-?/. - c.1062G>T r.(?) p.(Thr354=) - likely benign g.19377660G>T - PDHA1(NM_001173454.1):c.1176G>T (p.T392=) - MAP3K15_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1114G>A r.(?) p.(Asp372Asn) - likely benign g.19377712G>A g.19359594G>A PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N) - MAP3K15_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1114G>A r.(?) p.(Asp372Asn) - likely benign g.19377712G>A - PDHA1(NM_000284.3):c.1114G>A (p.(Asp372Asn)), PDHA1(NM_001173454.1):c.1228G>A (p.D410N) - MAP3K15_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1132C>T r.(?) p.(Arg378Cys) - pathogenic g.19377730C>T g.19359612C>T - - PDHA1_000007 - - - - Germline - - - 0 - Andreas Laner
+/. - c.1133G>A r.(?) p.(Arg378His) - pathogenic g.19377731G>A g.19359613G>A - - MAP3K15_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1142_1145dup r.(?) p.(Trp383Serfs*6) ACMG pathogenic g.19377740_19377743dup g.19359622_19359625dup - - PDHA1_000011 - PubMed: Trujillano 2017 - - De novo - - - 0 - Daniel Trujillano
./. - c.*1132C>G r.(=) p.(=) - VUS g.19378903C>G g.19360785C>G 2331G>C (R777S) - MAP3K15_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.*1682T>C r.(=) p.(=) - likely benign g.19379453T>C g.19361335T>C MAP3K15(NM_001001671.3):c.3857+4A>G (p.?) - MAP3K15_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
./. - c.*1869G>C r.(=) p.(=) - VUS g.19379640G>C g.19361522G>C 2176C>G (Q726E) - MAP3K15_000003 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. - c.*3217_*3221del r.(=) p.(=) - VUS g.19380988_19380992del g.19362870_19362874del MAP3K15(NM_001001671.3):c.3567-12_3567-8del (p.(=)) - MAP3K15_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*3220_*3221del r.(=) p.(=) - VUS g.19380991_19380992del g.19362873_19362874del MAP3K15(NM_001001671.3):c.3567-9_3567-8del (p.(=)) - MAP3K15_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*3221del r.(?) p.(=) - VUS g.19380992del g.19362874del MAP3K15(NM_001001671.3):c.3567-9del (p.(=)) - MAP3K15_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*9423C>T r.(=) p.(=) - likely benign g.19387194C>T - MAP3K15(NM_001001671.3):c.3544G>A (p.E1182K) - MAP3K15_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*9479G>T r.(=) p.(=) - likely benign g.19387250G>T - MAP3K15(NM_001001671.3):c.3488C>A (p.T1163N) - MAP3K15_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*9561G>A r.(=) p.(=) - VUS g.19387332G>A g.19369214G>A MAP3K15(NM_001001671.3):c.3406C>T (p.(Arg1136Ter)) - MAP3K15_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.*11342G>A r.(=) p.(=) - benign g.19389113G>A g.19370995G>A MAP3K15(NM_001001671.3):c.3364C>T (p.R1122*) - MAP3K15_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*11692G>A r.(=) p.(=) - likely benign g.19389463G>A g.19371345G>A MAP3K15(NM_001001671.3):c.3294C>T (p.(=)) - MAP3K15_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*13023T>G r.(=) p.(=) - VUS g.19390794T>G g.19372676T>G MAP3K15(NM_001001671.3):c.3085A>C (p.(Asn1029His)) - MAP3K15_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*13036G>C r.(=) p.(=) - likely benign g.19390807G>C g.19372689G>C MAP3K15(NM_001001671.3):c.3072C>G (p.(Asn1024Lys)) - MAP3K15_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*13142C>T r.(=) p.(=) - likely benign g.19390913C>T - MAP3K15(NM_001001671.3):c.2966G>A (p.R989Q) - MAP3K15_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*14844C>T r.(=) p.(=) - likely benign g.19392615C>T g.19374497C>T MAP3K15(NM_001001671.3):c.2753G>A (p.(Arg918Gln)) - MAP3K15_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*20507G>A r.(=) p.(=) - likely benign g.19398278G>A g.19380160G>A MAP3K15(NM_001001671.3):c.2549C>T (p.P850L) - MAP3K15_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*20539G>A r.(=) p.(=) - likely benign g.19398310G>A g.19380192G>A MAP3K15(NM_001001671.3):c.2517C>T (p.C839=) - MAP3K15_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*20544C>T r.(=) p.(=) - likely benign g.19398315C>T g.19380197C>T MAP3K15(NM_001001671.3):c.2512G>A (p.(Gly838Ser)) - MAP3K15_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*32707C>T r.(=) p.(=) - VUS g.19410478C>T g.19392360C>T MAP3K15(NM_001001671.3):c.2308G>A (p.V770M) - MAP3K15_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*35445A>G r.(=) p.(=) - VUS g.19413216A>G g.19395098A>G MAP3K15(NM_001001671.3):c.2177T>C (p.(Met726Thr)) - MAP3K15_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*35556C>G r.(=) p.(=) - VUS g.19413327C>G g.19395209C>G MAP3K15(NM_001001671.3):c.2067-1G>C - MAP3K15_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*38637C>A r.(=) p.(=) - VUS g.19416408C>A - MAP3K15(NM_001001671.3):c.2002G>T (p.A668S) - MAP3K15_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*47551C>T r.(=) p.(=) - VUS g.19425322C>T g.19407204C>T MAP3K15(NM_001001671.3):c.1828G>A (p.E610K) - MAP3K15_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*47592A>G r.(=) p.(=) - likely benign g.19425363A>G g.19407245A>G MAP3K15(NM_001001671.3):c.1787T>C (p.V596A) - MAP3K15_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*53748C>T r.(=) p.(=) - VUS g.19431519C>T g.19413401C>T MAP3K15(NM_001001671.3):c.1654G>A (p.(Glu552Lys)) - MAP3K15_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*55515T>C r.(=) p.(=) - VUS g.19433286T>C g.19415168T>C MAP3K15(NM_001001671.3):c.1529A>G (p.N510S) - MAP3K15_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*55564G>A r.(=) p.(=) - likely benign g.19433335G>A g.19415217G>A MAP3K15(NM_001001671.3):c.1480C>T (p.(Arg494Cys)) - MAP3K15_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*55567G>A r.(=) p.(=) - VUS g.19433338G>A g.19415220G>A MAP3K15(NM_001001671.3):c.1477C>T (p.R493W) - MAP3K15_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*55605C>A r.(=) p.(=) - likely benign g.19433376C>A - MAP3K15(NM_001001671.3):c.1440-1G>T - MAP3K15_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*65896T>C r.(=) p.(=) - VUS g.19443667T>C g.19425549T>C MAP3K15(NM_001001671.3):c.1421A>G (p.K474R) - MAP3K15_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*65975C>T r.(=) p.(=) - likely benign g.19443746C>T g.19425628C>T MAP3K15(NM_001001671.3):c.1342G>A (p.D448N) - MAP3K15_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*66685C>T r.(=) p.(=) - VUS g.19444456C>T g.19426338C>T MAP3K15(NM_001001671.3):c.1172G>A (p.R391H) - MAP3K15_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*71944G>A r.(=) p.(=) - likely benign g.19449715G>A g.19431597G>A MAP3K15(NM_001001671.3):c.1007C>T (p.T336I) - MAP3K15_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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