All variants in the PAH gene

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

5826 entries on 59 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     
+/. _1 - r.(=) p.(=) - pathogenic (recessive) g.103311534G>A g.102917756G>A -626G>A - PAH_000400 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. _1 - r.(=) p.(=) - unclassified g.103311386_103311388del g.102917608_102917610del -480_-478del - PAH_000400 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. _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
+/. 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
+/. - 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 - PAH_000403 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - Johan den Dunnen
+/. 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, c.970-?_1359+? - PAH_000403 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. - c.-472_-406{0} r.0? p.0? - pathogenic (recessive) g.103311316_103315082del g.102917538_102921304del -4173_-407del3767 - PAH_000398 - PubMed: Liang 2014 - - Germline - 5/142 case chromosomes - - - Johan den Dunnen
+/. - c.-472_-406{0} r.0? p.0? - pathogenic (recessive) g.103311316_103315082del g.102917538_102921304del -4173_-407del3767 - PAH_000398 - PubMed: Liang 2014 - - Germline - 5/142 case chromosomes - - - Johan den Dunnen
+/. - c.-472_-406{0} r.0? p.0? - pathogenic (recessive) g.103311316_103315082del g.102917538_102921304del -4173_-407del3767 - PAH_000398 - PubMed: Liang 2014 - - Germline - 5/142 case chromosomes - - - Johan den Dunnen
+/. - c.-472_-406{0} r.0? p.0? - pathogenic (recessive) g.103311316_103315082del g.102917538_102921304del -4173_-407del3767 - PAH_000398 - PubMed: Liang 2014 - - Germline - 5/142 case chromosomes - - - Johan den Dunnen
+/. - c.-472_-406{0} r.0? p.0? - pathogenic (recessive) g.103311316_103315082del g.102917538_102921304del -4173_-407del3767 - PAH_000398 - PubMed: Liang 2014 - - Germline - 5/142 case chromosomes - - - Johan den Dunnen
+/. _1_1 c.-472_-406{0} r.0 p.0 - pathogenic (recessive) g.103311316_103315082del g.102917538_102921304del -4172_-406del (-4317_-407) - PAH_000398 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. _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_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
+/. - 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 - PAH_000465 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - Johan den Dunnen
+/. - 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 - PAH_000465 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - Johan den Dunnen
+/. - 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 - PAH_000465 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - Johan den Dunnen
+/. _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, c.1-?_60+?del - PAH_000465 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. _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
+/. _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 - 11/253 cases classic PKU - - - Johan den Dunnen
+/. _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 - 4/150 cases moderate PKU - - - Johan den Dunnen
+/. _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 - - - Johan den Dunnen
+/. _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
+/. - 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
+/. _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.-3375_-179del r.0? p.0? ACMG pathogenic (recessive) g.103311087_103314283del g.102917309_102920505del - - PAH_000247 - - - - Germline yes - - - - Xiaomei Luo
+/. _1_1 c.-3375_-179del r.0? p.0? ACMG pathogenic (recessive) g.103311087_103314283del g.102917309_102920505del - - PAH_000247 - - - - Germline ? - - - - Xiaomei Luo
+/. _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.-3375_-179del r.0? p.0? ACMG pathogenic (recessive) g.103311087_103314283del g.102917309_102920505del - - PAH_000247 - - - - Germline yes - - - - Xiaomei Luo
+/. _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 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 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 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
-?/. - c.-81C>T r.(?) p.(=) - likely benign g.103310989G>A g.102917211G>A - - PAH_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.-81C>T r.(?) p.(=) - unclassified g.103310989G>A g.102917211G>A - - PAH_000172 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 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
-/. 1 c.-71A>C r.(=) p.? - benign g.103310979T>G g.102917201T>G - - PAH_000536 - PubMed: Shirzadeh 2018 - rs2280615 Germline - - - - - Johan den Dunnen
?/. 1 c.-71A>C r.(?) p.(=) - unclassified g.103310979T>G g.102917201T>G - - PAH_000536 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 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
+/. 1 c.-52G>C r.? p.? - pathogenic g.103310960C>G g.102917182C>G - - PAH_000396 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/253 cases classic PKU - - - Johan den Dunnen
?/. 1 c.-52G>C r.(?) p.(=) - unclassified g.103310960C>G g.102917182C>G - - PAH_000396 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 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
+/. _1 - r.? p.? - pathogenic (recessive) g.103311386_103311388del g.102917608_102917610del -480delACT - PAH_000400 combination of variants not reported PubMed: Yu 2014 - - Germline - 1/122 cases PKU - - - Johan den Dunnen
+/. _1 - r.? p.? - pathogenic (recessive) g.103311534G>A g.102917756G>A -626G>C - PAH_000400 combination of variants not reported PubMed: Yu 2014 - - Germline - 1/122 cases PKU - - - Johan den Dunnen
+/. _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 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
+/. - 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_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
+/. - c.1A>G r.(?) p.(Met1?) - pathogenic g.103310908T>C g.102917130T>C - - PAH_000178 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62514891 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. - c.1A>G r.(?) p.(Met1?) - pathogenic (recessive) g.103310908T>C g.102917130T>C Met1Val - PAH_000178 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) - pathogenic (recessive) g.103310908T>C g.102917130T>C (Met1Val) - PAH_000178 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. - c.1A>T r.(?) p.? - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - Liliana Fernández
+/. - c.1A>T r.(?) p.? - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - Liliana Fernández
+/. - c.1A>T r.(?) p.? - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - Liliana Fernández
+/. - c.1A>T r.(?) p.? - pathogenic (recessive) g.103310908T>A g.102917130T>A - - PAH_000217 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - Liliana Fernández
+/. 1 c.1A>T r.(?) p.(Met1?) - pathogenic (recessive) g.103310908T>A g.102917130T>A (Met1Leu) - PAH_000217 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (M1T) - PAH_000535 - PubMed: Shirzadeh 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (M1T) - PAH_000535 - PubMed: Shirzadeh 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (M1T) - PAH_000535 - PubMed: Shirzadeh 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (M1T) - PAH_000535 - PubMed: Shirzadeh 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (M1T) - PAH_000535 - PubMed: Shirzadeh 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (M1T) - PAH_000535 - PubMed: Shirzadeh 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>G g.102917129A>G (Met1Thr) - PAH_000535 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>C g.102917129A>C M1R - PAH_000562 - PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>C g.102917129A>C M1R - PAH_000562 - PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - Johan den Dunnen
+/. 1 c.2T>G r.(?) p.(Met1?) - pathogenic (recessive) g.103310907A>C g.102917129A>C (Met1Arg) - PAH_000562 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. - c.3G>A r.(?) p.(Met1?) - pathogenic (recessive) g.103310906C>T g.102917128C>T M1I - PAH_000534 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - Johan den Dunnen
+/. - c.3G>A r.(?) p.(Met1?) - pathogenic (recessive) g.103310906C>T g.102917128C>T M1I - PAH_000534 - PubMed: Bueno 2013 - - Germline - 3/294chromosomes PKU - - - Johan den Dunnen
+/. - c.3G>A r.(?) p.(Met1?) - pathogenic (recessive) g.103310906C>T g.102917128C>T M1I - PAH_000534 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 3/294chromosomes PKU - - - Johan den Dunnen
+/. 1 c.3G>A r.(?) p.(Met1?) - pathogenic (recessive) g.103310906C>T g.102917128C>T (Met1Ile) - PAH_000534 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+?/. 1 c.3G>C r.? p.? ACMG likely pathogenic (recessive) g.103310906C>G - - - PAH_000249 - - - - Germline yes - - - - Xiaomei Luo
+/. 1 c.3G>C r.(?) p.(Met1?) - pathogenic (recessive) g.103310906C>G g.102917128C>G (Met1Ile) - PAH_000249 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
?/. 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 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 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 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
+/. 1 c.23del r.(?) p.(Asn8Thrfs*30) ACMG pathogenic (recessive) g.103310889del g.102917111del - - PAH_000192 - - - - Unknown - 1/142 patients - - - Liliana Fernández
+/. 1 c.23del r.(?) p.(Asn8ThrfsTer30) - pathogenic (recessive) g.103310889del g.102917111del - - PAH_000192 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 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 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
-?/. - c.30C>G r.(?) p.(Gly10=) - likely benign g.103310879G>C g.102917101G>C PAH(NM_001354304.1):c.30C>G (p.G10=) - PAH_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.30C>G r.(?) p.(Gly10=) - unclassified g.103310879G>C g.102917101G>C - - PAH_000142 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 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 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 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 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
+/. 1 c.43_44insAG r.(?) p.(Leu15GlnfsTer24) - pathogenic (recessive) g.103310865_103310866insCT g.102917087_102917088insCT 43_44insAG - PAH_000395 - PubMed: Groselj 2012 - - Germline - 1/214 case chromosomes - - - Johan den Dunnen
+/. 1 c.43_44insAG r.(?) p.(Leu15GlnfsTer24) - pathogenic (recessive) g.103310865_103310866insCT g.102917087_102917088insCT - - PAH_000395 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 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 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 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 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
+/. - c.47_48del r.(?) p.(Ser16Ter) - pathogenic g.103310865_103310866del g.102917087_102917088del PAH(NM_000277.1):c.46_47delCT (p.S16*) - PAH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.47_48del r.(?) p.(Ser16*) ACMG pathogenic (recessive) g.103310865_103310866del g.102917087_102917088del - - PAH_000141 - - - - Germline ? - - - - Xiaomei Luo
+/. 1 c.47_48del r.(?) p.(Ser16Ter) - pathogenic g.103310865_103310866del g.102917087_102917088del 47_48delCT - PAH_000141 combination of alleles not reported PubMed: Yan 2019 - - Germline - 4/253 cases classic PKU - - - Johan den Dunnen
+/. - c.47_48del r.(?) p.(Ser16Ter) - pathogenic (recessive) g.103310865_103310866del g.102917087_102917088del c.47-48delCT - PAH_000141 - PubMed: Dobrowolski 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 c.47_48del r.(?) p.(Ser16Ter) - pathogenic (recessive) g.103310865_103310866del g.102917087_102917088del - - PAH_000141 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Not applicable - - - - - Johan den Dunnen
+/. 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 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 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
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