Unique variants in the APRT gene

Information The variants shown are described using the NM_000485.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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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.-2622G>A r.(?) p.(=) - likely pathogenic g.88880929C>T g.88814521C>T GALNS(NM_001323544.1):c.1505G>A (p.W502*) - APRT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.(-1_*1)? r.? p.? - pathogenic (recessive) g.(88876105_88878308)? g.(88809697_88811900)? - - APRT_000000 gross alteration detected using Southern blotting PubMed: Kamatani 1992 - - Germline - - - - - Johan den Dunnen
+/. 7 - c.1A>G r.(?) p.0? - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Harambat 2012, PubMed: Ikeda 2012, PubMed: Bollee 2010, PubMed: Sahota 1994 - rs930107496 Germline yes - - - - Johan den Dunnen
+/. 2 - c.3G>A r.(?) p.0? - pathogenic (recessive) g.88878305C>T g.88811897C>T - - APRT_000035 - PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.80+3G>A r.spl? p.? - VUS g.88878225C>T g.88811817C>T APRT(NM_000485.2):c.80+3G>A - APRT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.82G>C r.(?) p.(Asp28His) - pathogenic (recessive) g.88878063C>G g.88811655C>G - - APRT_000064 - PubMed: Rodriguez-Borja 2019 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.84C>A r.(?) p.(Asp28Glu) - pathogenic (recessive) g.88878061G>T g.88811653G>T - - APRT_000055 - PubMed: Harambat 2012, PubMed: Marra 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.98T>C r.(?) p.(Leu33Pro) - pathogenic (recessive) g.88878047A>G g.88811639A>G - - APRT_000053 APRT activity 0.015 PubMed: Nozue 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.119G>C r.(?) p.(Arg40Pro) - pathogenic (recessive) g.88878026C>G g.88811618C>G 282G>C - APRT_000034 - PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.160C>G r.(?) p.(His54Asp) - pathogenic (recessive) g.88877985G>C g.88811577G>C 195G>C (His54Asp) - APRT_000062 variant 2nd chromosome unknown, could not access paper PubMed: Cochran 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 2i_3 c.184_187+22del r.spl, r.spl? p.? - pathogenic (recessive) g.88877940_88877965del g.88811532_88811557del g.347_372del26 - APRT_000056 - PubMed: Harambat 2012, PubMed: Marra 2012 - - Germline, De novo - - - - - Johan den Dunnen
-/. 1 2i c.188-349C>G r.= p.= - benign g.88877313G>C g.88810905G>C - - APRT_000040 - PubMed: Hidaka 1988 - - Germline - - TaqI- - - Johan den Dunnen
+/. 3 2i_3 c.188-145_296delinsTTCCCTGA r.spl? p.? - pathogenic (recessive) g.88876856_88877109delinsTCAGGGAA g.88810448_88810701delinsTCAGGGAA - - APRT_000054 APRT activity 0.0 PubMed: Di Pietro 2007, PubMed: Perruzza 2008, PubMed: Menardi 1997 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.188-3C>G r.0 p.0 - pathogenic (recessive) g.88876967G>C g.88810559G>C IVS2−3c>g - APRT_000058 APRT activity was undetectable PubMed: Micheli 2010 - - Germline - - - - - Johan den Dunnen
+/. 4 - c.188G>A r.(?) p.(Gly63Asp) - pathogenic (recessive) g.88876964C>T g.88810556C>T 1344G>A - APRT_000033 - PubMed: Kaartinen 2014, PubMed: Li 2019, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 33 - c.194A>T r.(?) p.(Asp65Val) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 no APRT enzyme activity PubMed: Edvardsson 2001, PubMed: Harambat 2012, PubMed: Huq 2018, PubMed: Bollee 2010, 1 more item - rs104894506 Germline - - - - - Johan den Dunnen
+/. 1 - c.199C>T r.(?) p.(Arg67*) - pathogenic (recessive) g.88876953G>A g.88810545G>A 1355C>T - APRT_000031 - PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.200G>A r.(?) p.(Arg67Gln) - pathogenic (recessive) g.88876952C>T g.88810544C>T 1359G>A - APRT_000048 - PubMed: Lau 2019, PubMed: Taniguchi 2004 - rs762509151 Germline yes - - - - Johan den Dunnen
+/. 1 - c.250G>A r.(?) p.(Val84Met) - pathogenic (recessive) g.88876902C>T g.88810494C>T 1453G>A - APRT_000050 - PubMed: Taniguchi 2004 - rs200392753 Germline - - - - - Johan den Dunnen
+/. 6 - c.258_261dup r.(?) p.(Lys88Profs*23) - pathogenic (recessive) g.88876891_88876894dup g.88810483_88810486dup 1417-1420dupCCGA, APRT*Q0 - APRT_000045 unknown variant 2nd chromosome PubMed: Kamatani 1992, PubMed: Higashimoto 1995 - - Germline - 2/6 cases unknown variants, 1/6 cases unknown variants - - - Johan den Dunnen
+/. 1 - c.259C>T r.(?) p.(Arg87*) - pathogenic (recessive) g.88876893G>A g.88810485G>A 1415C>T - APRT_000047 - PubMed: Chen 1993 - rs3169258 Germline - - - - - Johan den Dunnen
+/. 1 - c.280_286del r.(?) p.(Gly94Leufs*41) - pathogenic (recessive) g.88876869_88876875del g.88810461_88810467del - - APRT_000043 - PubMed: Sahota 1994 - rs776240467 Germline - - - - - Johan den Dunnen
+/. 2 - c.286_287del r.(?) p.(Thr96Serfs*13) - pathogenic (recessive) g.88876866_88876867del g.88810458_88810459del 1442_1443delAC - APRT_000030 - PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 6 3 c.289_290del r.(?) p.(Leu97Valfs*12) - pathogenic (recessive), pathogenic g.88876864_88876865del g.88810456_88810457del 1443_1444delCT - APRT_000019 - PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline, Germline/De novo (untested) ? - - - - Johan den Dunnen, Daniela Francesca Giachino
+/. 11 - c.294G>A r.(?), r.294g>a p.(Trp98*), p.Trp98* - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0, 1453C>T, 1449/1450G>A, 1409G>A - APRT_000041 - PubMed: Nanmoku 2017, PubMed: Mimori 1991, PubMed: Sahota 1990, PubMed: Kamatani 1992, 1 more item - - Germline - - - - - Johan den Dunnen
-/. 3 - c.297C>T r.297c>u, r.(=) p.=, p.(=) - benign g.88876855G>A g.88810447G>A 1456C>T - APRT_000042 - PubMed: Mimori 1991, PubMed: Sahota 1990 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.311A>G r.(?) p.(Glu104Gly) - pathogenic (recessive) g.88876841T>C g.88810433T>C 1467A>G - APRT_000029 - PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.329T>C r.(?) p.(Leu110Pro) - pathogenic (recessive) g.88876549A>G g.88810141A>G - - APRT_000044 APRT activity <0.01 of normal PubMed: Harambat 2012, PubMed: Sahota 1994 - rs104894508 Germline yes - - - - Johan den Dunnen
+/. 1 4 c.367del r.(?) p.(Val123Trpfs*14) - likely pathogenic g.88876513del g.88810105del - - APRT_000018 - - - - Germline/De novo (untested) ? - - - - Daniela Francesca Giachino
+/. 1 - c.371T>G r.(?) p.(Val124Gly) - pathogenic (recessive) g.88876507A>C g.88810099A>C 1801T>G - APRT_000028 - PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.380A>G r.(?) p.(Asp127Gly) - pathogenic (recessive) g.88876498T>C g.88810090T>C - - APRT_000060 - PubMed: Balasubramaniam 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.398G>A r.(?) p.(Gly133Asp) - pathogenic (recessive) g.88876480C>T g.88810072C>T 1831G>A - APRT_000049 - PubMed: Taniguchi 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 4i c.400+1G>T r.spl p.? - pathogenic (recessive) g.88876477C>A g.88810069C>A IVS4+1G>T - APRT_000046 - PubMed: Chen 1993 - - Germline - - - - - Johan den Dunnen
+/. 37 4i c.400+2dup r.spl, r.spl?, r.(322_400del), r.322_400del p.?, p.(Ala108Glu*3), p.Ala108Glufs*3 - pathogenic (recessive) g.88876476dup g.88810068dup IVS4+2insT, 1832-1833insT, g.1832insT - APRT_000027 unknown variant 2nd chromosome, no variant found in 2nd allele PubMed: Harambat 2012, PubMed: Huq 2018, PubMed: Bollee 2010, PubMed: Hidaka 1987, PubMed: Chen 1993, 4 more items - rs745594160 Germline yes - - - - Johan den Dunnen
-?/. 1 - c.401-51C>T r.(=) p.(=) - likely benign g.88876299G>A g.88809891G>A APRT(NM_000485.2):c.401-51C>T - APRT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 9 - c.407T>C r.(?) p.(Met136Thr) - pathogenic (recessive) g.88876242A>G g.88809834A>G APRT*J - APRT_000039 unknown variant 2nd chromosome PubMed: Ikeda 2012, PubMed: Hidaka 1988, PubMed: Sahota 1990, PubMed: Kamatani 1992, 2 more items - rs28999113 Germline - 1/6 cases unknown variants - - - Johan den Dunnen
+/. 2 - c.428T>C r.(?) p.(Leu143Pro) - pathogenic (recessive) g.88876221A>G g.88809813A>G 2087T>C - APRT_000026 - PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.439C>T r.(?) p.(Gln147*) - pathogenic (recessive) g.88876210G>A g.88809802G>A g.2098C>T - APRT_000061 - PubMed: Valaperta 2014 - rs745872435 Germline - - - - - Johan den Dunnen
+/. 1 - c.448G>T r.(?) p.(Val150Phe) - pathogenic (recessive) g.88876201C>A g.88809793C>A 2107G>T - APRT_000052 - PubMed: Deng 2001 - rs281860266 Germline - - - - - Johan den Dunnen
+/. 1 - c.461_462del r.(?) p.(Val154Glufs*9) - pathogenic (recessive) g.88876188_88876189del g.88809780_88809781del - - APRT_000063 - PubMed: Lau 2019 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.472_474del r.(?) p.(Glu158del) - pathogenic (recessive) g.88876176_88876178del g.88809768_88809770del 2131_2133delGAG - APRT_000025 - PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.491G>A r.(?) p.(Gly164Asp) - pathogenic (recessive) g.88876158C>T g.88809750C>T - - APRT_000065 - PubMed: Harambat 2012 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.521_523del r.(?), r.521_523del p.(Phe174del), p.Phe174del - pathogenic (recessive) g.88876131_88876133del g.88809723_88809725del 2176_2178delTTC, Phe173del - APRT_000024 - PubMed: Bollee 2010, PubMed: Hidaka 1987 - rs121912681 Germline yes - - - - Johan den Dunnen
+/. 2 - c.524C>T r.(?) p.(Ser175Phe) - pathogenic (recessive) g.88876125G>A g.88809717G>A 2183C>T - APRT_000023 - PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.526C>T r.(?) p.(Leu176Phe) - pathogenic (recessive) g.88876123G>A g.88809715G>A 2185C>T - APRT_000022 - PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.526_530del r.(?) p.(Leu176Alafs*3) - pathogenic (recessive) g.88876121_88876125del g.88809713_88809717del - - APRT_000057 - PubMed: Ceballos-Picot 2018 - rs755380873 Germline - - - - - Johan den Dunnen
?/. 1 - c.528C>T r.(?) p.(Leu176=) - VUS g.88876121G>A g.88809713G>A APRT(NM_000485.2):c.528C>T (p.(=)) - APRT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.529C>T r.(?) p.(Leu177=) - likely benign g.88876120G>A g.88809712G>A APRT(NM_000485.2):c.529C>T (p.(=)) - APRT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.532C>T r.(?) p.(Gln178*) - pathogenic (recessive) g.88876117G>A g.88809709G>A - - APRT_000021 unknown variant 2nd chromosome, no variant found in 2nd allele PubMed: Harambat 2012, PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.541T>C r.(?) p.(*181Argext*?) - pathogenic (recessive) g.88876108A>G g.88809700A>G 2200T>C (X181Arg) - APRT_000020 no variant found in 2nd allele PubMed: Bollee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.542G>C r.542g>c p.*181Serext*? - pathogenic (recessive) g.88876107C>G g.88809699C>G - - APRT_000051 total mRNA 0.25 of normal PubMed: Taniguchi 1998 - rs387906584 Germline - - - - - Johan den Dunnen
+/. 1 - c.543A>T r.(?) p.(*181Cysext*?) - pathogenic (recessive) g.88876106T>A g.88809698T>A 543A>T (181X>C) - APRT_000059 - PubMed: Balasubramaniam 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.*1430T>A r.(=) p.(=) - VUS g.88874676A>T g.88808268A>T CDT1(NM_030928.3):c.1631A>T (p.E544V) - APRT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1440G>A r.(=) p.(=) - likely benign g.88874666C>T g.88808258C>T CDT1(NM_030928.3):c.1621C>T (p.(Arg541Cys)) - APRT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*1451G>A r.(=) p.(=) - benign g.88874655C>T g.88808247C>T - - CDT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.*1474G>C r.(=) p.(=) - benign g.88874632C>G g.88808224C>G CDT1(NM_030928.3):c.1587C>G (p.L529=) - CDT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.*1588G>C r.(=) p.(=) - likely benign g.88874518C>G g.88808110C>G CDT1(NM_030928.3):c.1478-5C>G - APRT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*2191_*2212dup r.(=) p.(=) - likely benign g.88873903_88873924dup g.88807495_88807516dup CDT1(NM_030928.3):c.1477+3_1477+4insCGTGCAGGGCGGGGTGAAGGGG (p.?) - APRT_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*2221C>T r.(=) p.(=) - VUS g.88873885G>A g.88807477G>A CDT1(NM_030928.3):c.1472G>A (p.(Ser491Asn)) - CDT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2282G>C r.(=) p.(=) - likely benign g.88873824C>G g.88807416C>G - - CDT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*2291C>T r.(=) p.(=) - VUS g.88873815G>A - CDT1(NM_030928.3):c.1402G>A (p.E468K) - APRT_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*2308C>T r.(=) p.(=) - pathogenic g.88873798G>A g.88807390G>A - - CDT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*2326T>G r.(=) p.(=) - VUS g.88873780A>C g.88807372A>C CDT1(NM_030928.3):c.1367A>C (p.(Glu456Ala)) - CDT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2336G>A r.(=) p.(=) - likely benign g.88873770C>T - CDT1(NM_030928.3):c.1357C>T (p.(Arg453Trp)) - APRT_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*2392T>G r.(=) p.(=) - VUS g.88873714A>C g.88807306A>C CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro)) - CDT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.*2651C>T r.(=) p.(=) - likely benign g.88873455G>A - CDT1(NM_030928.3):c.1123-4G>A (p.?) - APRT_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3179C>A r.(=) p.(=) - likely benign g.88872927G>T g.88806519G>T CDT1(NM_030928.3):c.967G>T (p.(Val323Leu)) - APRT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*3188C>T r.(=) p.(=) - VUS g.88872918G>A - CDT1(NM_030928.3):c.958G>A (p.(Ala320Thr)) - APRT_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*3572C>A r.(=) p.(=) - VUS g.88872534G>T g.88806126G>T CDT1(NM_030928.3):c.933+5G>T (p.?) - CDT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3594C>T r.(=) p.(=) - likely benign g.88872512G>A g.88806104G>A CDT1(NM_030928.3):c.916G>A (p.(Val306Ile)) - APRT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.*3595A>G r.(=) p.(=) - benign g.88872511T>C g.88806103T>C CDT1(NM_030928.3):c.915T>C (p.H305=) - CDT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 2 - c.*3877T>C r.(=) p.(=) - benign g.88872229A>G g.88805821A>G CDT1(NM_030928.3):c.784A>G (p.T262A) - CDT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.*3937C>T r.(=) p.(=) - VUS g.88872169G>A g.88805761G>A CDT1(NM_030928.3):c.724G>A (p.(Val242Met)) - APRT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.*3961A>G r.(=) p.(=) - benign g.88872145T>C g.88805737T>C CDT1(NM_030928.3):c.700T>C (p.C234R) - CDT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.*4108C>T r.(=) p.(=) - likely benign g.88871998G>A g.88805590G>A CDT1(NM_030928.3):c.639G>A (p.T213=) - APRT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*4134C>T r.(=) p.(=) - likely benign g.88871972G>A g.88805564G>A CDT1(NM_030928.3):c.613G>A (p.(Gly205Ser)) - CDT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4155G>A r.(=) p.(=) - likely benign g.88871951C>T g.88805543C>T CDT1(NM_030928.3):c.592C>T (p.(Arg198Cys)) - APRT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*4198T>C r.(=) p.(=) - benign g.88871908A>G g.88805500A>G - - CDT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*4815C>T r.(=) p.(=) - VUS g.88871291G>A g.88804883G>A CDT1(NM_030928.3):c.473G>A (p.(Arg158His)) - CDT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*4853C>T r.(=) p.(=) - benign g.88871253G>A g.88804845G>A - - CDT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*4917G>T r.(=) p.(=) - VUS g.88871189C>A g.88804781C>A CDT1(NM_030928.3):c.371C>A (p.(Ala124Glu)) - CDT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5054G>A r.(=) p.(=) - likely benign g.88871052C>T g.88804644C>T CDT1(NM_030928.3):c.328C>T (p.(His110Tyr)) - APRT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*5090T>C r.(=) p.(=) - VUS g.88871016A>G g.88804608A>G CDT1(NM_030928.3):c.292A>G (p.(Ile98Val)) - CDT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.*5139A>G r.(=) p.(=) - benign g.88870967T>C g.88804559T>C CDT1(NM_030928.3):c.243T>C (p.S81=) - CDT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
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