Unique variants in the PAH gene

Information The variants shown are described using the NM_000277.1 transcript reference sequence.

1616 entries on 17 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     
+/., ?/. 2 _1 - r.(=) p.(=) - pathogenic (recessive), unclassified g.103311386_103311388del, g.103311534G>A g.102917608_102917610del, g.102917756G>A -480_-478del, -626G>A - PAH_000400 - PubMed: Hillert 2020, data copied from the BIOPKU database, 1 more item - - Not applicable - - - - - Johan den Dunnen
+/. 1 _1_3i c.(-473_-405)_(352+33_370){0} r.0? p.0? - pathogenic (recessive) g.(103271311_103288480)_(103311313_103312301)del g.(102877533_102894702)_(102917535_102918523)del c.(1-1393_1-405)_(352+33_370)del - PAH_000521 - PubMed: Shirzadeh 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 11i_13_ c.(1199+1_1200-1)_*849{0} r.? p.? - pathogenic (recessive) g.(?_103232104)_(103234294_103237423)del g.(?_102838326)_(102840516_102843645)del del ex12-13 c.1200-?_1359+?del - PAH_000564 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 2 9i_13_ c.(969+1_970-1)_*849{0} r.? p.? - pathogenic (recessive) g.(?_103232104)_(103238210_103240672)del g.(?_102838326)_(102844432_102846894)del del ex10-13, 970-?_1359+?del, del ex10-13, c.970-?_1359+? - PAH_000403 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Jeannesson-Thivisol 2015 - - Germline, Not applicable - - - - - Johan den Dunnen
+/. 6 _1_1 c.-472_-406{0} r.0, r.0? p.0, p.0? - pathogenic (recessive) g.103311316_103315082del g.102917538_102921304del -4172_-406del (-4317_-407), -4173_-407del3767 - PAH_000398 - PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Liang 2014 - - Germline, Not applicable - 5/142 case chromosomes - - - Johan den Dunnen
+/. 1 _1_2i c.-473_(168+1_169-1){0} r.0? p.0? - pathogenic (recessive) g.(103288697_103306568)_(103311381_?)del g.(102894919_102912790)_(102917603_?)del del ex1-2, c.1-?_168+?del - PAH_001546 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 _1_3i c.-473_(352+1_353-1){0} r.0 p.0 - pathogenic (recessive) g.(103271329_103288512)_(103311381_?)del g.(102877551_102894734)_(102917603_?)del del ex1-3 c.(1-1393_1-405)_(352+33_370)del - PAH_001426 - PubMed: Hillert 2020, data copied from the BIOPKU database, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 4 _1_1i c.-473_(60+1_61-1){0} r.0? p.0? - pathogenic (recessive) g.(103306677_103310848)_(103311381_?)del g.(102912899_102917070)_(102917603_?)del del ex1, 1-?_60+?del, del ex1, c.1-?_60+?del - PAH_000465 - PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Jeannesson-Thivisol 2015 - - Germline, Not applicable - - - - - Johan den Dunnen
+/. 1 _1_13_ c.-473_*849{0} r.0 p.0 - pathogenic (recessive) g.(?_103232104)_(103311381_?)del g.(?_102838326)_(102917603_?)del PAHdel, c.-27778delPAH - PAH_000401 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 3 _1_1i c.-473_-406{0} r.0? p.0? - pathogenic g.103311316_103315073del g.102917538_102921295del -4163_-406del3758 - PAH_000397 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/72 cases mild hyperphenylalaninemia, 11/253 cases classic PKU, 4/150 cases moderate PKU - - - Johan den Dunnen
+/. 1 _1_1 c.-473_-408{0} r.0 p.0 - pathogenic (recessive) g.103311317_103315075del g.102917539_102921297del -4171_-405del, -4173_–407del - PAH_000262 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 - c.1314-1315+4del r.spl p.? - pathogenic (recessive) g.103234177_103234182del g.102840399_102840404del 1314-1315+4del6 (N438fs) - PAH_000470 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 1/294chromosomes PKU - - - Johan den Dunnen
+/. 6 _1_1 c.-3375_-179del r.0? p.0? ACMG pathogenic (recessive) g.103311087_103314283del g.102917309_102920505del - - PAH_000247 - - - - Germline ?, yes - - - - Xiaomei Luo
?/. 1 1 c.-224G>A r.(?) p.(=) - unclassified g.103311133C>T g.102917355C>T - - PAH_001645 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.-147C>T r.(?) p.(=) - unclassified g.103311055G>A g.102917277G>A - - PAH_001644 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.-104C>T r.(?) p.(=) - unclassified g.103311012G>A g.102917234G>A - - PAH_001643 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
-?/., ?/. 2 1 c.-81C>T r.(?) p.(=) - likely benign, unclassified g.103310989G>A g.102917211G>A - - PAH_000172 VKGL data sharing initiative Nederland PubMed: Hillert 2020, data copied from the BIOPKU database - - CLASSIFICATION record, Not applicable - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 1 c.-73C>G r.(?) p.(=) - unclassified g.103310981G>C g.102917203G>C - - PAH_001642 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
-/., ?/. 2 1 c.-71A>C r.(=), r.(?) p.(=), p.? - benign, unclassified g.103310979T>G g.102917201T>G - - PAH_000536 - PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Shirzadeh 2018 - rs2280615 Germline, Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.-66_-65del r.(?) p.(=) - unclassified g.103310973_103310974del g.102917195_102917196del - - PAH_001641 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/., ?/. 2 1 c.-52G>C r.(?), r.? p.(=), p.? - pathogenic, unclassified g.103310960C>G g.102917182C>G - - PAH_000396 combination of alleles not reported PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Yan 2019 - - Germline, Not applicable - 1/253 cases classic PKU - - - Johan den Dunnen
?/. 1 1 c.-1C>T r.(?) p.(=) - unclassified g.103310909G>A g.102917131G>A - - PAH_001640 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 2 _1 - r.? p.? - pathogenic (recessive) g.103311386_103311388del, g.103311534G>A g.102917608_102917610del, g.102917756G>A -480delACT, -626G>C - PAH_000400 combination of variants not reported PubMed: Yu 2014 - - Germline - 1/122 cases PKU - - - Johan den Dunnen
+/. 1 _1_13_ c.-473_*849{0} r.0 p.0 - pathogenic (recessive) g.(?_103232104)_(103311381_?)del g.(?_102838326)_(102917603_?)del del PAH gene - PAH_000401 del(D12S332_D12S1074)_(D12S806/78/338_D12S353) incl. PAH, IGF1, ASCL1 and TRA1 genes PubMed: Mallolas 2001 - - De novo - - - - - Johan den Dunnen
+/. 1 _1_1 c.-473_-408{0} r.? p.? - pathogenic (recessive) g.103311317_103315075del g.102917539_102921297del -4173_–407del (c.-4166_-408del) - PAH_000262 - PubMed: Chen 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.? r.? p.? - pathogenic (recessive) g.? - S110C - ALX1_000001 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 1/580 chromosomes PKU - - - Johan den Dunnen
+/. 1 _1_1i c.[-473_60+1069{0};60+1070_60+1125inv;60+1126_61-836del] r.0? p.0? - pathogenic g.[103307512_103309723del;103309724_103309779inv;103309780_103312840del] g.[102913734_102915945del;102915946_102916001inv;102916002_102919062del] -1932_60+3402del5269ins65 - PAH_000391 combination of alleles not reported PubMed: Yan 2019 - - Germline - 3/253 cases classic PKU - - - Johan den Dunnen
+/. 3 1 c.1A>G r.(?) p.(Met1?) - pathogenic, pathogenic (recessive) g.103310908T>C g.102917130T>C (Met1Val), Met1Val - PAH_000178 1 heterozygous, no homozygous; Clinindb (India) PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Jeannesson-Thivisol 2015, 1 more item - rs62514891 Germline, Not applicable - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 5 1 c.1A>T r.(?) p.(Met1?), p.? - pathogenic (recessive) g.103310908T>A g.102917130T>A (Met1Leu) - PAH_000217 - PubMed: Hillert 2020, data copied from the BIOPKU database, 1 more item - - Germline, Not applicable - - - - - Johan den Dunnen, Liliana Fernández
+/. 7 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (M1T), (Met1Thr) - PAH_000535 - PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Shirzadeh 2018 - - Germline, Not applicable - - - - - Johan den Dunnen
+/. 3 1 c.2T>G r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>C g.102917129A>C (Met1Arg), M1R - PAH_000562 - PubMed: Hennermann 2000, PubMed: Hillert 2020, data copied from the BIOPKU database - - Germline, Not applicable - 2/580 chromosomes PKU - - - Johan den Dunnen
+/. 4 1 c.3G>A r.(?) p.(Met1?) - pathogenic (recessive) g.103310906C>T g.102917128C>T (Met1Ile), M1I - PAH_000534 combination of alleles not shown PubMed: Bueno 2013, PubMed: Eiken 1996, PubMed: Eiken 1996, 1 more item - - Germline, Not applicable - 3/294chromosomes PKU - - - Johan den Dunnen
+/., +?/. 2 1 c.3G>C r.(?), r.? p.(Met1?), p.? ACMG likely pathogenic (recessive), pathogenic (recessive) g.103310906C>G g.102917128C>G (Met1Ile) - PAH_000249 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Germline, Not applicable yes - - - - Johan den Dunnen, Xiaomei Luo
?/. 1 1 c.12G>A r.(?) p.(Ala4=) - unclassified g.103310897C>T g.102917119C>T - - PAH_001639 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 1 c.13del r.(?) p.(Val5SerfsTer33) - pathogenic (recessive) g.103310897del g.102917119del - - PAH_001638 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.21A>G r.(?) p.(Glu7=) - unclassified g.103310888T>C g.102917110T>C - - PAH_001637 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.23A>C r.(?) p.(Asn8Thr) - unclassified g.103310886T>G g.102917108T>G - - PAH_001636 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 2 1 c.23del r.(?) p.(Asn8Thrfs*30), p.(Asn8ThrfsTer30) ACMG pathogenic (recessive) g.103310889del g.102917111del - - PAH_000192 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable, Unknown - 1/142 patients - - - Johan den Dunnen, Liliana Fernández
+/. 1 1 c.23_24delinsT r.(?) p.(Asn8IlefsTer30) - pathogenic (recessive) g.103310885_103310886delinsA g.102917107_102917108delinsA - - PAH_001635 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.28G>A r.(?) p.(Gly10Ser) - unclassified g.103310881C>T g.102917103C>T - - PAH_001634 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
-?/., ?/. 2 1 c.30C>G r.(?) p.(Gly10=) - likely benign, unclassified g.103310879G>C g.102917101G>C PAH(NM_000277.1):c.30C>G (p.G10=) - PAH_000142 VKGL data sharing initiative Nederland PubMed: Hillert 2020, data copied from the BIOPKU database - - CLASSIFICATION record, Not applicable - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 1 c.30dup r.(?) p.(Arg13GlnfsTer5) - pathogenic (recessive) g.103310879dup g.102917101dup - - PAH_001633 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 1 c.32T>A r.(?) p.(Leu11Ter) - pathogenic (recessive) g.103310877A>T g.102917099A>T - - PAH_001632 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 1 c.36del r.(?) p.(Arg13GlyfsTer25) - pathogenic (recessive) g.103310873del g.102917095del - - PAH_001631 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.42A>G r.(?) p.(Lys14=) - unclassified g.103310867T>C g.102917089T>C - - PAH_001630 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 2 1 c.43_44insAG r.(?) p.(Leu15GlnfsTer24) - pathogenic (recessive) g.103310865_103310866insCT g.102917087_102917088insCT 43_44insAG - PAH_000395 - PubMed: Groselj 2012, PubMed: Hillert 2020, data copied from the BIOPKU database - - Germline, Not applicable - 1/214 case chromosomes - - - Johan den Dunnen
+/. 1 1 c.43_44insCT r.(?) p.(Leu15ProfsTer24) - pathogenic (recessive) g.103310865_103310866insAG g.102917087_102917088insAG - - PAH_001629 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.44T>A r.(?) p.(Leu15His) - unclassified g.103310865A>T g.102917087A>T - - PAH_001627 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.46T>C r.(?) p.(Ser16Pro) - unclassified g.103310863A>G g.102917085A>G - - PAH_001626 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.47C>A r.(?) p.(Ser16Tyr) - unclassified g.103310862G>T g.102917084G>T - - PAH_001625 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 5 1 c.47_48del r.(?) p.(Ser16*), p.(Ser16Ter) ACMG pathogenic, pathogenic (recessive) g.103310865_103310866del g.102917087_102917088del 47_48delCT, c.47-48delCT, PAH(NM_000277.1):c.46_47delCT (p.S16*) - PAH_000141 combination of alleles not reported, VKGL data sharing initiative Nederland PubMed: Dobrowolski 2009, PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Yan 2019 - - CLASSIFICATION record, Germline, Not applicable ? 4/253 cases classic PKU - - - Johan den Dunnen, VKGL-NL_Rotterdam, Xiaomei Luo
+/. 1 1 c.47_48dup r.(?) p.(Asp17LeufsTer22) - pathogenic (recessive) g.103310865_103310866dup g.102917087_102917088dup - - PAH_001628 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 1 c.48dup r.(?) p.(Asp17Ter) - pathogenic (recessive) g.103310861dup g.102917083dup - - PAH_001624 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1 c.54T>C r.(?) p.(Phe18=) - unclassified g.103310855A>G g.102917077A>G - - PAH_001623 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 2 1_1i c.57_60+1del r.spl p.(Gln20LysfsTer17), p.? - pathogenic (recessive) g.103310850_103310854del g.102917072_102917076del 56_59+1delACAGG - PAH_000394 - PubMed: Groselj 2012, PubMed: Hillert 2020, data copied from the BIOPKU database - - Germline, Not applicable - 1/214 case chromosomes - - - Johan den Dunnen
+/. 2 1 c.58C>T r.(?) p.(Gln20Ter) - pathogenic (recessive) g.103310851G>A g.102917073G>A Q20X - PAH_000533 combination of alleles not shown PubMed: Bueno 2013, PubMed: Hillert 2020, data copied from the BIOPKU database - - Germline, Not applicable - 1/294chromosomes PKU - - - Johan den Dunnen
?/. 1 1 c.59A>C r.(?) p.(Gln20Pro) - unclassified g.103310850T>G g.102917072T>G - - PAH_001621 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/., ?/. 2 1 c.59A>T r.(?) p.(Gln20Leu) - pathogenic (recessive), unclassified g.103310850T>A g.102917072T>A Q20L - PAH_000561 - PubMed: Hennermann 2000, PubMed: Hillert 2020, data copied from the BIOPKU database - - Germline, Not applicable - 1/580 chromosomes PKU - - - Johan den Dunnen
+/. 1 1 c.59delinsCC r.(?) p.(Gln20ProfsTer7) - pathogenic (recessive) g.103310850delinsGG g.102917072delinsGG - - PAH_001622 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/., ?/. 3 1 c.59_60delinsCC r.spl? p.(Gln20Pro), p.? - pathogenic, unclassified g.103310849_103310850delinsGG g.102917071_102917072delinsGG 59_60AG>CC - PAH_000393 combination of alleles not reported PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Yan 2019 - - Germline, Not applicable - 1/150 cases moderate PKU, 2/253 cases classic PKU - - - Johan den Dunnen
+/. 2 1 c.60G>C r.(?), r.spl? p.(Gln20His) - pathogenic (recessive) g.103310849C>G g.102917071C>G - - PAH_000466 allelic phenotype value 2.5, variant associated with classic-mild PKU PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Jeannesson-Thivisol 2015 - - Germline, Not applicable - - - - - Johan den Dunnen
+/. 1 1i c.60+1G>C r.spl p.? - pathogenic (recessive) g.103310848C>G g.102917070C>G IVS1+1G>C - PAH_001620 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+4A>T r.spl? p.? - unclassified g.103310845T>A g.102917067T>A IVS1+4A>T - PAH_001619 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/., ?/. 4 1i c.60+5G>A r.spl, r.spl? p.? - pathogenic (recessive), unclassified g.103310844C>T g.102917066C>T IVS1+5G>A - PAH_000392 - PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Jeannesson-Thivisol 2015, 1 more item - rs62514895 Germline, Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+5G>C r.spl? p.? - unclassified g.103310844C>G g.102917066C>G IVS1+5G>C - PAH_001618 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/., ?/. 33 1i c.60+5G>T r.spl, r.spl? p.? - pathogenic, pathogenic (recessive), unclassified g.103310844C>A g.102917066C>A IVS1+5g>t, IVS1nt5g>t, PAH(NM_000277.3):c.60+5G>T - PAH_000139 combination of alleles not shown, VKGL data sharing initiative Nederland PubMed: Bueno 2013, PubMed: Hillert 2020, data copied from the BIOPKU database, 3 more items - - CLASSIFICATION record, Germline, Not applicable - 1/580 chromosomes PKU, 4/294chromosomes PKU - - - Johan den Dunnen, VKGL-NL_Utrecht, Liliana Fernández
?/. 1 1i c.60+5_60+6del r.spl? p.? - unclassified g.103310843_103310844del g.102917065_102917066del IVS1+5_+6del - PAH_001617 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+9C>T r.(?) p.(=) - unclassified g.103310840G>A g.102917062G>A IVS1+9C>T - PAH_001616 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+10G>A r.(?) p.(=) - unclassified g.103310839C>T g.102917061C>T IVS1+10G>A - PAH_001615 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+10G>C r.(?) p.(=) - unclassified g.103310839C>G g.102917061C>G IVS1+10G>C - PAH_001614 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+28del r.(?) p.(=) - unclassified g.103310821del g.102917043del IVS1+28del - PAH_001613 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+40T>G r.(?) p.(=) - unclassified g.103310809A>C g.102917031A>C IVS1+40T>G - PAH_001612 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+62C>G r.(?) p.(=) - unclassified g.103310787G>C g.102917009G>C IVS1+62C>G - PAH_001611 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
-/., ?/. 4 1i c.60+62C>T r.(=), r.(?) p.(=), p.? - benign, unclassified g.103310787G>A g.102917009G>A IVS1+62C>T, PAH(NM_000277.3):c.60+62C>T - PAH_000167 VKGL data sharing initiative Nederland PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Shirzadeh 2018 - rs1522296 CLASSIFICATION record, Germline, Not applicable - - - - - Johan den Dunnen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 1i c.60+134A>G r.(?) p.(=) - unclassified g.103310715T>C g.102916937T>C IVS1+134A>G - PAH_001610 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.60+299C>G r.(?) p.(=) - unclassified g.103310550G>C g.102916772G>C IVS1+299C>G - PAH_001609 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
-/., ?/. 2 1i c.61-907T>C r.(=), r.(?) p.(=) - benign, unclassified g.103307583A>G g.102913805A>G IVS1+907T>C, PAH(NM_000277.3):c.61-907T>C - PAH_000138 VKGL data sharing initiative Nederland PubMed: Hillert 2020, data copied from the BIOPKU database - - CLASSIFICATION record, Not applicable - - - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 1i c.61-345T>C r.(?) p.(=) - unclassified g.103307021A>G g.102913243A>G IVS1-345T>C - PAH_001608 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.61-13del r.(?) p.(=) - unclassified g.103306689del g.102912911del IVS1-13del9 - PAH_001607 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2i c.61-13_61-5del r.(?) p.(=) - unclassified g.103306681_103306689del g.102912903_102912911del IVS1-13_-5del, 61-13_-5del - PAH_001603 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.61-9A>T r.(?) p.(=) - unclassified g.103306685T>A g.102912907T>A IVS1-9A>T - PAH_001606 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.61-7C>T r.(?) p.(=) - unclassified g.103306683G>A g.102912905G>A IVS1-7C>T - PAH_001605 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.61-6C>T r.(?) p.(=) - unclassified g.103306682G>A g.102912904G>A IVS1-6C>T - PAH_001604 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 1i c.61-3T>C r.(?) p.(=) - unclassified g.103306679A>G g.102912901A>G IVS1-3T>C - PAH_001602 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.63A>C r.(?) p.(Glu21Asp) - unclassified g.103306674T>G g.102912896T>G - - PAH_001601 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.65C>A r.(?) p.(Thr22Lys) - unclassified g.103306672G>T g.102912894G>T - - PAH_001600 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.66A>C r.(?) p.(Thr22=) - unclassified g.103306671T>G g.102912893T>G - - PAH_001599 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.71A>G r.(?) p.(Tyr24Cys) - unclassified g.103306666T>C g.102912888T>C - - PAH_001597 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.72T>C r.(?) p.(Tyr24=) - unclassified g.103306665A>G g.102912887A>G - - PAH_001596 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 2 c.73_74dup r.(?) p.(Glu26LeufsTer13) - pathogenic (recessive) g.103306666_103306667dup g.102912888_102912889dup - - PAH_001598 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.74T>C r.(?) p.(Ile25Thr) - unclassified g.103306663A>G g.102912885A>G - - PAH_001595 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 2 c.75del r.(?) p.(Ile25MetfsTer13) - pathogenic (recessive) g.103306663del g.102912885del c.74del - PAH_001594 - PubMed: Hillert 2020, data copied from the BIOPKU database, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.75T>C r.(?) p.(Ile25=) - unclassified g.103306662A>G g.102912884A>G - - PAH_001593 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.81C>T r.(?) p.(Asp27=) - unclassified g.103306656G>A g.102912878G>A - - PAH_001592 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.84C>T r.(?) p.(Asn28=) - unclassified g.103306653G>A g.102912875G>A - - PAH_001591 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.86G>A r.(?) p.(Cys29Tyr) - unclassified g.103306651C>T g.102912873C>T - - PAH_001590 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 2 2, 8 c.87C>A r.(?) p.(Cys29Ter) - pathogenic, pathogenic (recessive) g.103306650G>T g.102912872G>T - - PAH_000390 combination of alleles not reported PubMed: Hillert 2020, data copied from the BIOPKU database, PubMed: Yan 2019 - - Germline, Not applicable - 1/150 cases moderate PKU - - - Johan den Dunnen
?/. 1 2 c.103A>G r.(?) p.(Ile35Val) - unclassified g.103306634T>C g.102912856T>C - - PAH_001589 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 1 2 c.105A>G r.(?) p.(Ile35Met) - unclassified g.103306632T>C g.102912854T>C - - PAH_001588 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 2 c.107C>A r.(?) p.(Ser36Ter) - pathogenic (recessive) g.103306630G>T g.102912852G>T - - PAH_001587 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
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