All transcript variants in gene PIGN

Information The variants shown are described using the NM_176787.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-18161339_*11350425del - r.0? p.0? g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
?/. - c.-1207C>T VUS r.(?) p.(=) g.59855048G>A - KIAA1468(NM_020854.3):c.310G>A (p.D104N) - KIAA1468_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-1092G>T likely benign r.(?) p.(=) g.59854933C>A - KIAA1468(NM_020854.3):c.195C>A (p.(Ser65Arg)) - KIAA1468_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-1045C>T likely benign r.(?) p.(=) g.59854886G>A - KIAA1468(NM_020854.3):c.148G>A (p.(Gly50Ser)) - KIAA1468_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 4 c.94del pathogenic (recessive) r.(?) p.(Met32*) g.59828493del - 94_94delA - PIGN_000066 - PubMed: Martinez 2017, Journal: Martinez 2017 - - Germline - - - 0 - Johan den Dunnen
?/. - c.121C>T VUS r.(?) p.(Pro41Ser) g.59828466G>A - PIGN(NM_012327.5):c.121C>T (p.(Pro41Ser)) - PIGN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.139G>C likely benign r.(?) p.(Val47Leu) g.59828448C>G - PIGN(NM_012327.5):c.139G>C (p.(Val47Leu)) - PIGN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.167C>T likely benign r.(?) p.(Ala56Val) g.59828420G>A - PIGN(NM_176787.4):c.167C>T (p.A56V) - PIGN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.167C>T benign r.(?) p.(Ala56Val) g.59828420G>A - PIGN(NM_176787.4):c.167C>T (p.A56V) - PIGN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 4 c.181G>T - r.(?) p.(Glu61*) g.59828406C>A - - - PIGN_000059 - PubMed: Thiffault et al. 2017 - - Germline - - - 0 - Philippe Campeau
-?/. - c.213G>A likely benign r.(?) p.(=) g.59828374C>T - PIGN(NM_176787.4):c.213G>A (p.P71=) - PIGN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.214_1620del - r.(?) p.(Phe72_Pro540del) g.59774273_59828373del - - - PIGN_000064 Deletion of exons 2-14. Also carried by healthy sibling PubMed: Nakagawa et al. 2015 - - Germline yes - - 0 - Philippe Campeau
-?/. - c.253A>G likely benign r.(?) p.(Ile85Val) g.59825010T>C - PIGN(NM_012327.5):c.253A>G (p.(Ile85Val)) - PIGN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 5_7i c.(221_324)_(549+196_550-1)del - r.? p.? g.(59815572_59821582)_(59824939_59828366)del - chr18:59,821,582-59,824,939 - PIGN_000061 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. 5 c.284G>A - r.(?) p.(Arg95Gln) g.59824979C>T - - - PIGN_000060 - PubMed: Thiffault et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.329_549+1908del - r.? p.? g.59819870_59824934del - - - PIGN_000062 - PubMed: Alessandri et al.2018 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.329_549+1908del - r.? p.? g.59819870_59824934del - - - PIGN_000062 - PubMed: Alessandri et al.2018 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.329_549+1908del - r.? p.? g.59819870_59824934del - - - PIGN_000062 The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7 PubMed: Alessandri et al.2018 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.329_549+1908del - r.? p.? g.59819870_59824934del - - - PIGN_000062 The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7 PubMed: Alessandri et al.2018 - - Germline yes - - 0 - Philippe Campeau
-?/. - c.364G>C likely benign r.(?) p.(Glu122Gln) g.59824440C>G - PIGN(NM_176787.4):c.364G>C (p.E122Q) - PIGN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.364G>C VUS r.(?) p.(Glu122Gln) g.59824440C>G - PIGN(NM_176787.4):c.364G>C (p.E122Q) - PIGN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.364G>C likely benign r.(?) p.(Glu122Gln) g.59824440C>G - PIGN(NM_176787.4):c.364G>C (p.E122Q) - PIGN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.406T>G - r.(?) p.(Trp136Gly) g.59824398A>C - - - PIGN_000052 - PubMed: Couser et al. 2015 - - Germline - - - 0 - Philippe Campeau
+?/. - c.421dup - r.(?) p.(Ile141Asnfs*10) g.59824383dup - - - PIGN_000063 - PubMed: Alessandri et al.2018 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.421dup - r.(?) p.(Ile141Asnfs*10) g.59824383dup - - - PIGN_000063 - PubMed: Alessandri et al.2018 - - Germline yes - - 0 - Philippe Campeau
-/. - c.484A>G benign r.(?) p.(Lys162Glu) g.59821843T>C - PIGN(NM_176787.4):c.484A>G (p.K162E) - PIGN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.528G>A likely benign r.(?) p.(=) g.59821799C>T - PIGN(NM_176787.4):c.528G>A (p.T176=) - PIGN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.548_549+6del pathogenic r.(?) p.(Asn181Argfs*15) g.59821772_59821779del - PIGN(NM_012327,NM_176787):c.548_549+6del (p.Ly183*) - PIGN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.548_549+6del - r.? p.? g.59821772_59821779del - - - PIGN_000051 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
?/. - c.614T>C VUS r.(?) p.(Val205Ala) g.59815507A>G - PIGN(NM_176787.4):c.614T>C (p.V205A) - PIGN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.674+1G>A pathogenic r.spl? p.? g.59815446C>T - PIGN(NM_176787.4):c.674+1G>A - PIGN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.685C>G benign r.(?) p.(His229Asp) g.59814324G>C - PIGN(NM_176787.4):c.685C>G (p.H229D) - PIGN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.685C>G benign r.(?) p.(His229Asp) g.59814324G>C - PIGN(NM_176787.4):c.685C>G (p.H229D) - PIGN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. 9 c.694A>T - r.0? p.(Lys232*) g.59814315A>T g.62147082T>A - - PIGN_000005 not in dbSNP, 1000 genomes, ExAC and 2000 internal controls PubMed: McInerney-Leo 2016 - - Germline yes - - 0 - Aideen McInerney-Leo
+?/. - c.694A>T - r.(?) p.(Lys232*) g.59814315T>A - - - PIGN_000005 - PubMed: Pagnamenta et al. 2017 - - Germline yes - - 0 - Philippe Campeau
?/. - c.709G>A - r.(?) p.(Gly237Arg) g.59814300C>T - - - PIGN_000055 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
-/. - c.741C>T benign r.(?) p.(=) g.59814268G>A - PIGN(NM_176787.4):c.741C>T (p.H247=) - PIGN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.741C>T benign r.(?) p.(=) g.59814268G>A - PIGN(NM_176787.4):c.741C>T (p.H247=) - PIGN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.754G>A VUS r.(?) p.(Asp252Asn) g.59814255C>T - PIGN(NM_176787.4):c.754G>A (p.D252N) - PIGN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.755A>T - r.(?) p.(Asp252Val) g.59814254T>A - - - PIGN_000057 - PubMed: Khayat et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.790G>A - r.(?) p.(Gly264Arg) g.59814219C>T - - - PIGN_000058 - PubMed: Jezela-Stanek et al. 2016 - - Germline - - - 0 - Philippe Campeau
-?/. - c.805+119A>G likely benign r.(=) p.(=) g.59814085T>C - PIGN(NM_176787.4):c.805+119A>G - PIGN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 9 c.808T>C - r.(?) p.(Ser270Pro) g.59813256A>G g.62146023A>G - - PIGN_000002 expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity PubMed: Ohba 2014, OMIM:var0002 - rs587777186 Germline yes - - 0 - Philippe Campeau
+?/. - c.808T>C - r.(?) p.(Ser270Pro) g.59813256A>G - - - PIGN_000002 - PubMed: Nakagawa et al. 2015 - - Germline yes - - 0 - Philippe Campeau
+/. - c.824A>C - r.(?) p.(His275Pro) g.59813240T>G - - - PIGN_000068 Homozygous, Autosomal recessive - - - Germline - - - 0 - Philippe Campeau
+/+ - c.824A>C - r.(?) p.(His275Pro) g.59813240T>G - - - PIGN_000068 - - - - Germline - - - 0 - Philippe Campeau
+?/. - c.932T>G likely pathogenic r.(?) p.(Leu311Trp) g.59810570A>C - PIGN(NM_176787.4):c.932T>G (p.Leu311Trp) - PIGN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.932T>G - r.(?) p.(Leu311Trp) g.59810570A>C - - - PIGN_000050 - PubMed: Jezela-Stanek et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.932T>G - r.(?) p.(Leu311Trp) g.59810570A>C - - - PIGN_000050 - PubMed: Pagnamenta et al. 2017 - - Germline yes - - 0 - Philippe Campeau
+/. 10 c.963G>A - r.[923_963del, 963_964ins963+1_963+53] p.[Glu308Glyfs*2,Ala322Valfs*24] g.59810539C>T g.62143306C>T - - PIGN_000003 expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity PubMed: Ohba 2014, OMIM:var0003 - rs587777187 Germline yes - - 0 - Philippe Campeau
?/. - c.963G>A - r.(=) p.(=) g.59810539C>T - - - PIGN_000003 Compound heterozygous variant in PIGN. Known splice site mutation (c.963G>A) was inherited from father. - - - Germline - - - 0 - Philippe Campeau
+/. - c.996T>G - r.(?) p.(Ile332Met) g.59807680A>C - NM_176787: c.T996G; p.I332M - PIGN_000009 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1117-1A>G benign r.spl? p.? g.59805532T>C - PIGN(NM_176787.4):c.1117-1A>G - PIGN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1117-1A>G likely benign r.spl? p.? g.59805532T>C - PIGN(NM_176787.4):c.1117-1A>G - PIGN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1333G>T likely benign r.(?) p.(Val445Phe) g.59780468C>A - PIGN(NM_012327.5):c.1333G>T (p.(Val445Phe)) - PIGN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1377T>C benign r.(?) p.(=) g.59780424A>G - PIGN(NM_176787.4):c.1377T>C (p.S459=) - PIGN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1393T>C likely benign r.(?) p.(Ser465Pro) g.59780408A>G - PIGN(NM_012327.5):c.1393T>C (p.(Ser465Pro)) - PIGN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1408A>T benign r.(?) p.(Ile470Leu) g.59780393T>A - PIGN(NM_176787.4):c.1408A>T (p.I470L) - PIGN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1418T>C likely benign r.(?) p.(Val473Ala) g.59780383A>G - PIGN(NM_012327.5):c.1418T>C (p.(Val473Ala)) - PIGN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1434G>A VUS r.(?) p.(=) g.59780367C>T - PIGN(NM_176787.4):c.1434G>A (p.=) - PIGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.1434G>A likely pathogenic r.(?) p.(=) g.59780367C>T - PIGN(NM_176787.4):c.1434G>A (p.=) - PIGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1434G>A VUS r.(?) p.(=) g.59780367C>T - PIGN(NM_176787.4):c.1434G>A (p.=) - PIGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1434+5G>A - r.spl? p.? g.59780362C>T - - - PIGN_000008 - - - - Unknown - - - 0 - IMGAG
+?/. - c.1434+5G>A - r.spl? p.? g.59780362C>T - - - PIGN_000008 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1434+5G>A - r.spl? p.? g.59780362C>T - - - PIGN_000008 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
+/. 16i c.1574+1G>A - r.1435_1574del p.Lys479Ilefs*31 g.59777066C>T g.62109833C>T - - PIGN_000004 - PubMed: Brady 2014 - - Germline yes - - 0 - Philippe Campeau
+/. 18 c.1674+1G>C - r.spl p.? g.59774218C>G g.62106985C>G - - PIGN_000006 - PubMed: McInerney-Leo 2016 - - Germline yes 0.000083 in ExAC - 0 - Aideen McInerney-Leo
?/. - c.1708G>A VUS r.(?) p.(Ala570Thr) g.59774081C>T - PIGN(NM_176787.4):c.1708G>A (p.A570T) - PIGN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 19 c.1735C>T pathogenic (recessive) r.(?) p.(Pro579Ser) g.59774054G>A - - - PIGN_000065 - PubMed: Martinez 2017, Journal: Martinez 2017 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1752G>A benign r.(?) p.(=) g.59774037C>T - PIGN(NM_176787.4):c.1752G>A (p.L584=) - PIGN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 21 c.1966C>T - r.0? p.(Gln656*) g.59770029G>A g.62102796G>A - - PIGN_000007 not in dbSNP, 1000 genomes, ExAC or 2000 internal controls PubMed: McInerney-Leo 2016 - - Germline yes - - 0 - Aideen McInerney-Leo
?/. - c.1985T>C VUS r.(?) p.(Leu662Pro) g.59768400A>G - PIGN():c.1985T>C (p.Leu662Pro) - PIGN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2022A>G likely benign r.(?) p.(=) g.59768363T>C - PIGN(NM_176787.4):c.2022A>G (p.=) - PIGN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2039T>G VUS r.(?) p.(Leu680Arg) g.59768346A>C - PIGN(NM_012327.5):c.2039T>G (p.(Leu680Arg)) - PIGN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2062A>C VUS r.(?) p.(Ser688Arg) g.59768323T>G - PIGN(NM_012327.5):c.2062A>C (p.(Ser688Arg)) - PIGN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2067G>C VUS r.(?) p.(Trp689Cys) g.59768318C>G - PIGN(NM_012327.5):c.2067G>C (p.(Trp689Cys)) - PIGN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2077+63T>G likely benign r.(=) p.(=) g.59768245A>C - PIGN(NM_176787.4):c.2077+63T>G - PIGN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 22 c.2126G>A - r.(?) p.(Arg709Gln) g.59763135C>T g.62095902C>T - - PIGN_000001 dramatic decrease in CD59 expression on the fibroblast cell surface in affected individuals PubMed: Maydan 2011, OMIM:var0001 - rs397514475 Germline yes - - 0 - Philippe Campeau
+/. - c.2126G>A pathogenic r.(?) p.(Arg709Gln) g.59763135C>T - PIGN(NM_176787.4):c.2126G>A (p.R709Q) - PIGN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2237T>G VUS r.(?) p.(Ile746Arg) g.59757755A>C - PIGN(NM_176787.4):c.2237T>G (p.I746R) - PIGN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2238A>G likely benign r.(?) p.(Ile746Met) g.59757754T>C - PIGN(NM_176787.4):c.2238A>G (p.I746M) - PIGN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2283+13del likely benign r.(=) p.(=) g.59757698del - PIGN(NM_176787.4):c.2283+13delA - PIGN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.2340T>A - r.(?) p.(Tyr780*) g.59756019A>T - - - PIGN_000054 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.2340T>A - r.(?) p.(Tyr780*) g.59756019A>T - - - PIGN_000054 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
?/. - c.2354G>A VUS r.(?) p.(Arg785His) g.59756005C>T - PIGN(NM_176787.4):c.2354G>A (p.R785H) - PIGN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.2354G>A VUS r.(?) p.(Arg785His) g.59756005C>T - PIGN(NM_176787.4):c.2354G>A (p.R785H) - PIGN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2411_2412delinsAG - r.(?) p.(Ile804Lys) g.59752456_59752457delinsCT - - - PIGN_000056 - PubMed: Fleming et al. 2016 - - Germline - - - 0 - Philippe Campeau
?/. - c.2413G>A VUS r.(?) p.(Ala805Thr) g.59752455C>T - PIGN(NM_176787.4):c.2413G>A (p.A805T) - PIGN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2503-14T>C benign r.(=) p.(=) g.59749993A>G - PIGN(NM_176787.4):c.2503-14T>C - PIGN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.2576G>C - r.(?) p.(Ser859Thr) g.59749906C>G - - - PIGN_000053 - PubMed: Couser et al. 2015 - - Germline - - - 0 - Philippe Campeau
-?/. - c.2576+134T>C likely benign r.(=) p.(=) g.59749772A>G - PIGN(NM_176787.4):c.2576+134T>C - PIGN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2619+14G>A benign r.(=) p.(=) g.59741998C>T - PIGN(NM_176787.4):c.2619+14G>A - PIGN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2619+114G>A likely benign r.(=) p.(=) g.59741898C>T - PIGN(NM_176787.4):c.2619+114G>A - PIGN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2620-270T>A likely benign r.(=) p.(=) g.59740228A>T - PIGN(NM_176787.4):c.2620-270T>A - PIGN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2620-6_2620-5dup likely benign r.spl? p.? g.59739974_59739975dup - PIGN(NM_012327.5):c.2620-5_2620-4insTT (p.?), PIGN(NM_176787.4):c.2620-18_2620-17insTT - PIGN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2620-6_2620-5dup likely benign r.spl? p.? g.59739974_59739975dup - PIGN(NM_012327.5):c.2620-5_2620-4insTT (p.?), PIGN(NM_176787.4):c.2620-18_2620-17insTT - PIGN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2620-5del likely benign r.spl? p.? g.59739975del - PIGN(NM_012327.5):c.2620-5del (p.?), PIGN(NM_176787.4):c.2620-5delT - PIGN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2620-5del likely benign r.spl? p.? g.59739975del - PIGN(NM_012327.5):c.2620-5del (p.?), PIGN(NM_176787.4):c.2620-5delT - PIGN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2620-5dup likely benign r.spl? p.? g.59739975dup - PIGN(NM_012327.5):c.2620-5dup (p.?), PIGN(NM_176787.4):c.2620-5dupT - PIGN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2620-5dup likely benign r.spl? p.? g.59739975dup - PIGN(NM_012327.5):c.2620-5dup (p.?), PIGN(NM_176787.4):c.2620-5dupT - PIGN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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