Full data view for gene XK

Information The variants shown are described using the NM_021083.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_3_ c.(?_-82)_(*3668_?)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_37545133)_(37591383_?)del g.(?_37685880)_(37732130_?)del del XK gene 50kb - XK_000021 - PubMed: Danek 1990, PubMed: Witt 1992, PubMed: Danek 2001, PubMed: Danek 1994, PubMed: Oechsner 2001, PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - MCLDS Pat1;Pat1;Pat1;Pat1;Pat1;Pat17 PubMed: Danek 1990, PubMed: Witt 1992, PubMed: Danek 2001, PubMed: Danek 1994, PubMed: Oechsner 2001, PubMed: Danek 2001 - M - Germany - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-6407870)_(*3668_?)del r.0? p.0? Maternal (confirmed) - pathogenic g.(?_31137345)_(37591383_?)del g.(?_31119228)_(37732130_?)del - - DMD_069069 6.8 Mb deletion incl. DMD and XK PubMed: Blackstone 2025 - - Germline yes - - - - DNA arrayMET - - MD family PubMed: Blackstone 2025 3-generation family, 6 affected (6M), 2 unaffected carrier females M - United States - 12y - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-200)_(245+1_246-1)del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_37545015)_(37545460_37553538)del g.(?_37685762)_(37686207_37694285)del del Prom-ex1 - XK_000019 - PubMed: Bertelson 1988, PubMed: Danek 2001 - - Germline yes - - - - DNA PCR, SEQ - - MCLDS Pat2;FamPat5 PubMed: Bertelson 1988, PubMed: Danek 2001 family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
+/. _1_1i c.(?_-200)_(245+1_246-1)del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_37545015)_(37545460_37553538)del g.(?_37685762)_(37686207_37694285)del del Prom-ex1 - XK_000019 - PubMed: Bertelson 1988, PubMed: Danek 2001 - - Germline yes - - - - DNA PCR, SEQ - - MCLDS Pat1;FamPat6 PubMed: Bertelson 1988, PubMed: Danek 2001 brother M - - - - - - - 1 Johan den Dunnen
+/. _1_ c.(?_-82)_(-82_246-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_37545133)_(37545133_37553538)del g.(?_37685880)_(37685880_37694285)del del ex1 - XK_000020 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - MCLDS Pat13 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-82)_(*84999_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del CYBB, XK - XK_000018 210kb deletion PubMed: Martel 2012 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - CGD Pat20 PubMed: Martel 2012 2-generation family, non-carrier mother M - France - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-82)_(*84999_?)del r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del CYBB, XK - XK_000018 1.3Mb deletion PubMed: Martel 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Pat21 PubMed: Martel 2012 2-generation family, heterozygous carrier mother M - France - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(37372045_37372104)_(37965797_37965856)del - - - CYBB_000007 593.8 kb deletion PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH - - CGD 22383943-Pat3 PubMed: Arai 2012 carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Unknown - pathogenic g.(35839374_35839433)_(37787250_37787309)del - - - CYBB_000007 1944.5 kb deletion PubMed: Arai 2012 - - De novo - - - - - DNA arrayCGH - - CGD 22383943-Pat4 PubMed: Arai 2012 mother not a carrier M - Japan - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 DMD_042217 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH - - CGD 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - - - - 1 Johan den Dunnen
?/. _1_3_ c.-82_*3668{2} r.? p.? Maternal (confirmed) - VUS g.(36868901_37519019)_(37704713_38023983)dup - hg18 g.(36778822_37403938)_(37589657_37908927)dup - CYBB_000004 - PubMed: Oshima 2009 - - Germline - - - - - DNA arrayCGH, MLPA, Southern - - - 19449031-PatCo3 PubMed: Oshima 2009 familial case, carrier mother M - United States - - - - - 1 Johan den Dunnen
+/. _1_3_ -2135979_*1311340del r.0 p.0 Unknown - pathogenic (recessive) g.35409236_38899055del - hg17 35168893-38655271del - CYBB_000481 deletion incl. XK, CYBB, RPGR, OTC, TSPAN7 PubMed: Yamada 2010 - - De novo - - - - - DNA arrayCGH, PCR, SEQ - - ? Pat1 PubMed: Yamada 2010 - M no Japan - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(30300000_30577566)_(38080045_38200000)del - hg19 30577566-38080045del - CYBB_000005 7.5Mb deletion incl. GK, DMD, CFAP47, CYBB, XK, RPGR PubMed: Bi 2023 - - Germline - - - - - DNA SEQ-NG - CNVseq ? patient PubMed: Bi 2023 2-generation family, 1 affected, unaffected carrier mother/sister M - China - 00y03m - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.31683517_37789444del - - - CYBB_000005 - PubMed: Peng 2007 - - Germline - - - - - DNA PCR, SEQ - - CGD Pat2 PubMed: Peng 2007 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(37372045_37372104)_(37965797_37965856)del - hg17 g.(37128233_37128292)_(37722014_37722073)del - CYBB_000005 593.8kb deletion incl. XK, CYBB, DYNLT3 PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH - - CGDX Pat3 PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Unknown - pathogenic (recessive) g.(35839374_35839433)_(37787250_37787309)del - hg17 chrX:g.(35599031_35599090)_(37543467_37543526)del - CYBB_000005 1944.5kb deletion incl. XK, CYBB, DYNLT3; mother not avaliable PubMed: Arai 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CGDX Pat4 PubMed: Arai 2012 family, 1 affected M - Japan - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(32407730_32407789)_(38122529_38122588)del - hg17 g.(32167387_32167446)_(37878746_37878805)del - CYBB_000005 5711.4kb deletion incl. DMD, XK, CYBB, DYNLT3 PubMed: Arai 2012 - - Germline - - - - markedly skewed X-inactivation (nromal chromosome inactive) DNA arrayCGH - - CGDX Pat5(A1445) PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.37015744_37854516delins37007623_37007658 - hg17 36775400-37610734delins36 - CYBB_000005 deletion incl. XK, CYBB; insertionTGGAGCAAGGTAACTGGAATGTCCTGCTAGCTTCCC PubMed: Yamada 2010 - - Germline yes - - - - DNA arrayCGH, PCR, SEQ - - CGDX Pat2 PubMed: Yamada 2010 2-generation family, 2 affected brothers, unaffected carrier mother M - Japan - - - - - 2 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37706889_?)del g.(?_37685880)_(37847636_?)del del gene - CYBB_000005 deletion incl. XK, CYBB, DYNLT3 PubMed: Xu 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, PCR - - CGD Pat23(A1446) PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat100 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat101 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1_3_ c.-82_*3668{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_31138513)_(37672714_?)del g.(?_31120396)_(37813461_?)del del DMD gene - DMD_010179 5.5Mb Xp21.1-p11.4 deletion incl. DMD, XK, CYBB PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH, MLPA - - BMD/DMD, CGD, MCLDS D687 PubMed: Kekou 2023 contiguous gene syndrome M - Greece - - - - - 1 Johan den Dunnen
+/. _1_2i c.-82_509-1465{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.36808321_37585424del - - - XK_000016 1.12Mb deletion PubMed: Peng 2007 - - Germline yes - - - - DNA PCR, SEQ - - MCLDS Pat1 PubMed: Peng 2007 2-generation family, 2 affected brothers, unaffected carrier mother M - United States - - - - - 2 Johan den Dunnen
-?/. - c.51G>A r.(?) p.(Glu17=) Unknown - likely benign g.37545265G>A g.37686012G>A XK(NM_021083.4):c.51G>A (p.E17=) - XK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57G>C r.(?) p.(Thr19=) Unknown - likely benign g.37545271G>C g.37686018G>C XK(NM_021083.4):c.57G>C (p.T19=) - XK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.107G>A r.(?) p.(Trp36Ter) Maternal (confirmed) - pathogenic (recessive) g.37545321G>A g.37686068G>A 189G>A - XK_000022 - PubMed: Malandrini 1994, PubMed: Danek 2001 - - Germline yes - - - - DNA SEQ - - MCLDS PatiIII8;Pat14 PubMed: Malandrini 1994, PubMed: Danek 2001 family, 3 affected (3M) M - - - - - - - 3 Johan den Dunnen
+/. 2i c.245+1G>A r.spl p.? Unknown - pathogenic (recessive) g.37545460G>A g.37686207G>A IVS2+1G>A - XK_000023 - PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS PatFD9 PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 2i c.246-1G>A r.spl p.? Unknown - pathogenic (recessive) g.37553538G>A g.37694285G>A IVS2-1G>A - XK_000024 - PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS PatED9 PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.268del r.(?) p.(Tyr90ThrfsTer40) Unknown - pathogenic (recessive) g.37553561del g.37694308del 350delT - XK_000025 - PubMed: Hardie 1991, PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS PatLIII4;Pat2 PubMed: Hardie 1991, PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.397C>T r.(?) p.(Arg133Ter) Unknown - pathogenic (recessive) g.37553690C>T g.37694437C>T 479C>T - XK_000026 - PubMed: Dotti 2000, PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS patient;Pat15 PubMed: Dotti 2000, PubMed: Danek 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.397C>T r.(?) p.(Arg133Ter) Unknown - pathogenic (recessive) g.37553690C>T g.37694437C>T 479C>T - XK_000026 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat23 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.397C>T r.(?) p.(Arg133Ter) Unknown - pathogenic (recessive) g.37553690C>T g.37694437C>T 479C>T - XK_000026 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat18 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.397C>T r.(?) p.(Arg133Ter) Unknown - pathogenic (recessive) g.37553690C>T g.37694437C>T 479C>T - XK_000026 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat19 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - VUS g.37553706G>A g.37694453G>A XK(NM_021083.4):c.413G>A (p.(Arg138Gln)) - XK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - VUS g.37553706G>A - XK(NM_021083.4):c.413G>A (p.(Arg138Gln)) - XK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433T>G r.(?) p.(Phe145Val) Unknown - VUS g.37553726T>G g.37694473T>G XK(NM_021083.4):c.433T>G (p.F145V) - XK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.463C>T r.(?) p.(Gln155Ter) Maternal (confirmed) - pathogenic (recessive) g.37553756C>T g.37694503C>T 545C>T - XK_000027 - PubMed: Danek 2001, PubMed: Danek 2001 - - Germline yes - - - - DNA SEQ - - MCLDS Pat4;FamPat9 PubMed: Danek 2001, PubMed: Danek 2001 family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
+/. 2 c.463C>T r.(?) p.(Gln155Ter) Maternal (confirmed) - pathogenic (recessive) g.37553756C>T g.37694503C>T 545C>T - XK_000027 - PubMed: Danek 2001, PubMed: Danek 2001 - - Germline yes - - - - DNA SEQ - - MCLDS Pat5;FamPat10 PubMed: Danek 2001, PubMed: Danek 2001 brother M - - - - - - - 1 Johan den Dunnen
-?/. - c.492C>T r.(?) p.(Asp164=) Unknown - likely benign g.37553785C>T - XK(NM_021083.4):c.492C>T (p.D164=) - XK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508+4C>T r.spl? p.? Unknown - likely benign g.37553805C>T g.37694552C>T XK(NM_021083.4):c.508+4C>T - XK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508+4C>T r.spl? p.? Unknown - likely benign g.37553805C>T - XK(NM_021083.4):c.508+4C>T - XK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.686_687del r.(?) p.(Phe229TyrfsTer36) Unknown - pathogenic (recessive) g.37587066_37587067del g.37727813_37727814del 768-769delTT - XK_000028 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat2;Pat6;Pat1 PubMed: Oechsner 2001, PubMed: Danek 2001, PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c.707G>A r.(?) p.(Trp236Ter) Unknown - pathogenic (recessive) g.37587087G>A g.37727834G>A c.789G>A - XK_000029 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat11 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c.771del r.(?) p.(Trp257CysfsTer11) Unknown - pathogenic (recessive) g.37587151del g.37727898del 853delG - XK_000030 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat20 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c.856_860del r.(?) p.(Leu286TyrfsTer16) Unknown - pathogenic (recessive) g.37587236_37587240del g.37727983_37727987del 938-942delCTCTA - XK_000031 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat22 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
?/. - c.872A>G r.(?) p.(Asn291Ser) Parent #1 - VUS g.37587252A>G g.37727999A>G N291S - XK_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 3 c.880T>C r.(?) p.(Cys294Arg) Unknown - pathogenic (recessive) g.37587260T>C g.37728007T>C c.962T>C - XK_000032 - PubMed: Danek 2001, PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat3;Pat12 PubMed: Danek 2001, PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c.938_951del r.(?) p.(Asn313ThrfsTer24) Unknown - pathogenic (recessive) g.37587318_37587331del g.37728065_37728078del c.1020_1033del - XK_000033 - PubMed: Danek 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - MCLDS Pat21 PubMed: Danek 2001 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1070T>C r.(?) p.(Ile357Thr) Unknown - VUS g.37587450T>C - XK(NM_021083.4):c.1070T>C (p.I357T) - XK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1108T>G r.(?) p.(Tyr370Asp) Unknown - benign g.37587488T>G g.37728235T>G XK(NM_021083.4):c.1108T>G (p.Y370D, p.(Tyr370Asp)) - XK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108T>G r.(?) p.(Tyr370Asp) Unknown - likely benign g.37587488T>G g.37728235T>G XK(NM_021083.4):c.1108T>G (p.Y370D, p.(Tyr370Asp)) - XK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1108T>G r.(?) p.(Tyr370Asp) Unknown - benign g.37587488T>G - XK(NM_021083.4):c.1108T>G (p.Y370D, p.(Tyr370Asp)) - XK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135C>T r.(?) p.(Leu379Phe) Unknown - VUS g.37587515C>T g.37728262C>T XK(NM_021083.2):c.1135C>T (p.(Leu379Phe)) - XK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1176C>G r.(?) p.(=) Unknown - likely benign g.37587556C>G - XK(NM_021083.4):c.1176C>G (p.L392=) - XK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221G>A r.(?) p.(Pro407=) Unknown - likely benign g.37587601G>A - XK(NM_021083.4):c.1221G>A (p.P407=) - XK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229A>C r.(?) p.(Lys410Thr) Unknown - VUS g.37587609A>C - XK(NM_021083.4):c.1229A>C (p.K410T) - XK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1267C>T r.(?) p.(Pro423Ser) Unknown - likely benign g.37587647C>T g.37728394C>T XK(NM_021083.4):c.1267C>T (p.P423S) - XK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1312G>A r.(?) p.(Ala438Thr) Unknown - VUS g.37587692G>A - - - XK_000015 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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