All variants

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

DNA change (genomic) (hg19): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).

g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup

Marker/Name: name/ID of marker

HGVS/Repeat: variant description using HGVS repeat format

Repeat: structure of the repeat unit

Published_as: variant as originally reported; listed only when different from "DNA change"

Haplotype: haplotype on which variant was found

dbSNP ID: dbSNP ID (rs number), e.g. rs12345678

Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Genetic origin: origin of variant
All options:

Germline
De novo
Somatic
Unknown
In vitro (cloned)
SUMMARY record
Not applicable

Frequency: frequency variant found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

1113 entries on 12 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Effect	Chr	DNA change (genomic) (hg19)	Marker/Name	HGVS/Repeat	Repeat	Published_as	Haplotype	dbSNP ID	Reference	DB-ID	Variant remarks	Genetic origin	Frequency	Owner
-/-	1	g.230905352_230905429=	D1S1656	g.230905352CA[5]CCTA[1]TCTC[16]	CA[5]CCTA[1]TCTC[16]	[TAGA]16TAGG[TG]5	D1S1656-17	-	Parson 2016, Parson 2016	chr1_000001	length capillary electrophoresis 17	Germline	-	Johan den Dunnen
-/-	1	g.230905352_230905429=	D1S1656	g.230905352CA[5]CCTA[1]TCTA[16]	CA[5]CCTA[1]TCTA[16]	CE17 (TAGA)16(TAGG)1(TG)5	D1S1656-17[5-1-0-0-16]	-	Lareu 1998	chr1_000011	-	Germline	3/45 chromosomes	Johan den Dunnen
-/-	1	g.230905362_230905381del	D1S1656	g.230905352CA[5]TCTA[12]	CA[5]TCTA[12]	CE12a (TAGA)12(TG)5	D1S1656-12[5-0-0-0-12]	-	Lareu 1998	chr1_000004	-	Germline	2/45 chromosomes	Johan den Dunnen
-/-	1	g.230905362_230905385del	D1S1656	g.230905352CA[5]TCTA[11]	CA[5]TCTA[11]	CE11 (TAGA)11(TG)5	D1S1656-11[5-0-0-0-11]	-	Lareu 1998	chr1_000003	-	Germline	3/45 chromosomes	Johan den Dunnen
-/-	1	g.230905362_230905389del	D1S1656	g.230905352CA[5]TCTA[10]	CA[5]TCTA[10]	CE10 (TAGA)10(TG)5	D1S1656-10[5-0-0-0-10]	-	Lareu 1998	chr1_000002	-	Germline	2/45 chromosomes	Johan den Dunnen
-/-	1	g.230905408_230905412del	D1S1656	g.230905352CA[5]CCTA[1]TCTA[10]TCA[1]TCTA[4]	CA[5]CCTA[1]TCTA[10]TCA[1]TCTA[4]	CE15.3 (TAGA)4(TGA)1(TAGA)10(TAGG)1(TG)5	D1S1656-15.3[5-1-10-1-4]	-	Lareu 1998	chr1_000009	-	Germline	4/45 chromosomes	Johan den Dunnen
-/-	1	g.230905410_230905429del	D1S1656	g.230905352CA[5]CCTA[1]TCTA[11]	CA[5]CCTA[1]TCTA[11]	CE12b (TAGA)11(TAGG)1(TG)5	D1S1656-12[5-1-0-0-11]	-	Lareu 1998	chr1_000005	-	Germline	3/45 chromosomes	Johan den Dunnen
-/-	1	g.230905413_230905415dup	D1S1656	g.230905352CA[5]CCTA[1]TCTA[12]TCA[1]TCTA[4]	CA[5]CCTA[1]TCTA[12]TCA[1]TCTA[4]	CE17.3 (TAGA)4(TGA)1(TAGA)12(TAGG)1(TG)5	D1S1656-17.3[5-1-12-1-4]	-	Lareu 1998	chr1_000012	-	Germline	3/45 chromosomes	Johan den Dunnen
-/-	1	g.230905413_230905419dup	D1S1656	g.230905352CA[5]CCTA[1]TCTA[13]TCA[1]TCTA[4]	CA[5]CCTA[1]TCTA[13]TCA[1]TCTA[4]	CE18.3 (TAGA)4(TGA)1(TAGA)13(TAGG)1(TG)5	D1S1656-18.3[5-1-13-1-4]	-	Lareu 1998	chr1_000013	-	Germline	3/45 chromosomes	Johan den Dunnen
-/-	1	g.230905413_230905423dup	D1S1656	g.230905352CA[5]CCTA[1]TCTA[14]TCA[1]TCTA[4]	CA[5]CCTA[1]TCTA[14]TCA[1]TCTA[4]	CE19.3 (TAGA)4(TGA)1(TAGA)14(TAGG)1(TG)5	D1S1656-19.3[5-1-14-1-4]	-	Lareu 1998	chr1_000014	-	Germline	3/45 chromosomes	Johan den Dunnen
-/-	1	g.230905414_230905429del	D1S1656	g.230905352CA[5]CCTA[1]TCTA[12]	CA[5]CCTA[1]TCTA[12]	CE13 (TAGA)12(TAGG)1(TG)5	D1S1656-13[5-1-0-0-12]	-	Lareu 1998	chr1_000006	-	Germline	4/45 chromosomes	Johan den Dunnen
-/-	1	g.230905418_230905429del	D1S1656	g.230905352CA[5]CCTA[1]TCTA[13]	CA[5]CCTA[1]TCTA[13]	CE14 (TAGA)13(TAGG)1(TG)5	D1S1656-14[5-1-0-0-13]	-	Lareu 1998	chr1_000007	-	Germline	5/45 chromosomes	Johan den Dunnen
-/-	1	g.230905422_230905429del	D1S1656	g.230905352CA[5]CCTA[1]TCTA[14]	CA[5]CCTA[1]TCTA[14]	CE15 (TAGA)14(TAGG)1(TG)5	D1S1656-15[5-1-0-0-14]	-	Lareu 1998	chr1_000008	-	Germline	7/45 chromosomes	Johan den Dunnen
-/-	1	g.230905426_230905429del	D1S1656	g.230905352CA[5]CCTA[1]TCTA[15]	CA[5]CCTA[1]TCTA[15]	CE16 (TAGA)15(TAGG)1(TG)5	D1S1656-16[5-1-0-0-15]	-	Lareu 1998	chr1_000010	-	Germline	3/45 chromosomes	Johan den Dunnen
-/-	2	g.1493316C>A	TPOX	g.1493423AATG[9]	AATG[9]	-	TPOX-9 [A-CG-G-9]	-	van der Gaag 2016	chr2_000065	-	Germline	-	Pieter Klap
-/-	2	g.1493328C>T	TPOX	g.1493423AATG[8]	AATG[8]	CE8-TGAA[8]	TPOX-8 [C-TG-G-8]	-	van der Gaag 2016	chr2_000059	-	Germline	-	Pieter Klap
-/-	2	g.1493328C>T	TPOX	g.1493423AATG[8]	AATG[8]	-	TPOX-8 [C-TG-G-8]	-	van der Gaag 2016	chr2_000059	-	Germline	-	Pieter Klap
-/-	2	g.1493329G>A	TPOX	g.1493423AATG[8]	AATG[8]	CE8-TGAA[8]	TPOX-8 [C-CA-G-8]	-	van der Gaag 2016	chr2_000058	-	Germline	-	Pieter Klap
-/-	2	g.1493329G>A	TPOX	g.1493423AATG[8]	AATG[8]	-	TPOX-8 [C-CA-G-8]	-	van der Gaag 2016	chr2_000058	-	Germline	-	Pieter Klap
-/-	2	g.1493329G>A	TPOX	g.1493423AATG[9]	AATG[9]	-	TPOX-9 [C-CA-G-9]	-	van der Gaag 2016	chr2_000058	-	Germline	-	Pieter Klap
-/-	2	g.1493373G>T	TPOX	g.1493423AATG[8]	AATG[8]	CE8-TGAA[8]	TPOX-8 [C-CG-T-8]	-	van der Gaag 2016	chr2_000057	-	Germline	-	Pieter Klap
-/-	2	g.1493373G>T	TPOX	g.1493423AATG[8]	AATG[8]	-	TPOX-8 [C-CG-T-8]	-	van der Gaag 2016	chr2_000057	-	Germline	-	Pieter Klap
-/-	2	g.1493425_14934456=	TPOX	g.1493425AATG[8]	AATG[8]	TGAA[8]	TPOX-8	-	van der Gaag 2015	chr2_000053	length capillary electrophoresis 8	Germline	-	Johan den Dunnen
-/-	2	g.1493425_1493456=	TPOX	g.1493423AATG[8]	AATG[8]	CE8-TGAA[8]	TPOX-8 [C-CG-G-8]	-	van der Gaag 2016	chr2_000055	-	Germline	-	Pieter Klap
-/-	2	g.1493435_1493454dup	TPOX	g.1493423AATG[13]	AATG[13]	CE13-TGAA[13]	TPOX-13 [C-CG-G-13]	-	van der Gaag 2016	chr2_000064	-	Germline	-	Pieter Klap
-/-	2	g.1493439_1493454dup	TPOX	g.1493423AATG[12]	AATG[12]	CE12-TGAA[12]	TPOX-12 [C-CG-G-12]	-	van der Gaag 2016	chr2_000063	-	Germline	-	Pieter Klap
-/-	2	g.1493443_1493454dup	TPOX	g.1493423AATG[11]	AATG[11]	CE11-TGAA[11]	TPOX-11 [C-CG-G-11]	-	van der Gaag 2016	chr2_000062	-	Germline	-	Pieter Klap
-/-	2	g.1493447_1493454del	TPOX	g.1493423AATG[6]	AATG[6]	CE6-TGAA[6]	TPOX-6 [C-CG-G-6]	-	van der Gaag 2016	chr2_000056	-	Germline	-	Pieter Klap
-/-	2	g.1493447_1493454dup	TPOX	g.1493423AATG[10]	AATG[10]	CE10-TGAA[10]	TPOX-10 [C-CG-G-10]	-	van der Gaag 2016	chr2_000061	-	Germline	-	Pieter Klap
-/-	2	g.1493451_1493454dup	TPOX	g.1493423AATG[9]	AATG[9]	CE9-TGAA[9]	TPOX-9 [C-CG-G-9]	-	van der Gaag 2016	chr2_000060	-	Germline	-	Pieter Klap
-/-	2	g.1493451_1493454dup	TPOX	g.1493423AATG[9]	AATG[9]	CE9-TGAA[9]	TPOX-9 [A-CG-G-9]	-	van der Gaag 2016	chr2_000060	-	Germline	-	Pieter Klap
-/-	2	g.1493451_1493454dup	TPOX	g.1493423AATG[9]	AATG[9]	CE9-TGAA[9]	TPOX-9 [C-CA-G-9]	-	van der Gaag 2016	chr2_000060	-	Germline	-	Pieter Klap
-/-	2	g.218879582_218879673=	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[13]GGCA[7]	GGAA[2]GGAC[1]GGAA[13]GGCA[7]	TGCC[7]TTCC[13]GTCC[1]TTCC[2]	D2S1338-23	-	Parson 2016, Parson 2016	chr2_000001	length capillary electrophoresis 23	Germline	-	Jamie Zeegers
-/-	2	g.218879582_218879673=	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[13]GGCA[7]	GGAA[2]GGAC[1]GGAA[13]GGCA[7]	CE23-GGAA[2]GGAC[1]GGAA[13]GGCA[7]	D2S1338-23[C-2-1-13-7]	-	vd Gaag, in press	chr2_000001	14/202 Netherlands, 36/194 Nepal/Bhuthan, 5/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.68239080_6823917=	D2S441	g.68239080CTAT[12]	CTAT[12]	TCTA[12]	D2S441-12	-	van der Gaag 2015	chr2_000054	length capillary electrophoresis 12	Germline	-	Johan den Dunnen
-/-	2	g.[218879593C>A;218879648_218879656delinsAAGGA]	D2S1338	g.218879582GGAA[18]GGCA[4]	GGAA[18]GGCA[4]	CE22-GGAA[18]GGCA[4]	D2S1338-22[A-0-0-18-4]	-	vd Gaag, in press	chr2_000052	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593C>A;218879648_218879656delinsA]	D2S1338	g.218879582GGAA[17]GGCA[4]	GGAA[17]GGCA[4]	CE21-GGAA[17]GGCA[4]	D2S1338-21[A-0-0-17-4]	-	vd Gaag, in press	chr2_000029	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593C>A;218879648_218879660delinsA]	D2S1338	g.218879582GGAA[17]GGCA[3]	GGAA[17]GGCA[3]	CE20-GGAA[17]GGCA[3]	D2S1338-20[A-0-0-17-3]	-	vd Gaag, in press	chr2_000020	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593C>A;218879662_218879673del]	D2S1338	g.218879582GGAA[16]GGCA[4	GGAA[16]GGCA[4	CE20-GGAA[16]GGCA[4	D2S1338-20[A-0-0-16-4]	-	vd Gaag, in press	chr2_000021	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593C>A;218879666_218879673del]	D2S1338	g.218879582GGAA[16]GGCA[5]	GGAA[16]GGCA[5]	CE21-GGAA[16]GGCA[5]	D2S1338-21[C-0-0-16-5]	-	vd Gaag, in press	chr2_000031	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879596del;218879620_218879671del]	D2S1338	g.218879582GGAA[8]GGCA[6]	GGAA[8]GGCA[6]	CE14-GGAA[8]GGCA[6]	D2S1338-14[A-0-0-8-6]	-	vd Gaag, in press	chr2_000002	-	Germline	1/202 chromosomes	Johan den Dunnen
-/-	2	g.[218879593_218879596del;218879627_218879635delinsA]	D2S1338	g.218879582GGAA[10]GAAA[1]GGAA[2]GGCA[7]	GGAA[10]GAAA[1]GGAA[2]GGCA[7]	CE20-GGAA[10]GAAA[1]GGAA[2]GGCA[7]	D2S1338-20[C-10-1-2-7]	-	vd Gaag, in press	chr2_000026	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879596del;218879644delinsCAGGC]	D2S1338	g.218879582GGAA[14]GGCA[9]	GGAA[14]GGCA[9]	CE23-GGAA[14]GGCA[9]	D2S1338-23[C-0-0-14-9]	-	vd Gaag, in press	chr2_000044	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879596del;218879658_218879673del]	D2S1338	g.218879582GGAA[15]GGCA[3]	GGAA[15]GGCA[3]	CE18-GGAA[15]GGCA[3]	D2S1338-18[A-0-0-15-3]	-	vd Gaag, in press	chr2_000009	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879596del;218879662_218879673del]	D2S1338	g.218879582GGAA[15]GGCA[4]	GGAA[15]GGCA[4]	CE19-GGAA[15]GGCA[4]	D2S1338-19[C-0-0-15-4]	-	vd Gaag, in press	chr2_000014	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879596del;218879670_218879673del]	D2S1338	g.218879582GGAA[15]GGCA[6]	GGAA[15]GGCA[6]	CE21-GGAA[15]GGCA[6]	D2S1338-21[C-0-0-15-6]	-	vd Gaag, in press	chr2_000033	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879596del]	D2S1338	g.218879582GGAA[15]GGCA[7]	GGAA[15]GGCA[7]	CE22-GGAA[15]GGCA[7]	D2S1338-22[C-2-1-12-7]	-	vd Gaag, in press	chr2_000040	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879636_218879644delinsC]	D2S1338	g.218879582GGAA[11]GGCA[8]	GGAA[11]GGCA[8]	CE19-GGAA[11]GGCA[8]	D2S1338-19[C-0-0-11-8]	-	vd Gaag, in press	chr2_000019	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879640_218879651del]	D2S1338	g.218879582GGAA[12]GGCA[6]	GGAA[12]GGCA[6]	CE18-GGAA[12]GGCA[6]	D2S1338-18[C-0-0-12-6]	-	vd Gaag, in press	chr2_000012	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879640_218879651del]	D2S1338	g.218879582GGAA[12]GGCA[6]	GGAA[12]GGCA[6]	CE18-GGAA[12]GGCA[6]	D2S1338-18[A-0-0-12-6]	-	vd Gaag, in press	chr2_000012	15/202 Netherlands, 1/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879640_218879655del]	D2S1338	g.218879582GGAA[12]GGCA[5]	GGAA[12]GGCA[5]	CE17-GGAA[12]GGCA[5]	D2S1338-17[A-0-0-12-5]	-	vd Gaag, in press	chr2_000007	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879640_218879659del]	D2S1338	g.218879582GGAA[12]GGCA[4]	GGAA[12]GGCA[4]	CE16-GGAA[12]GGCA[4]	D2S1338-16[A-0-0-12-4]	-	vd Gaag, in press	chr2_000004	-	Germline	13/198 chromosomes	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879644A>C]	D2S1338	g.218879582GGAA[13]GGCA[8]	GGAA[13]GGCA[8]	CE21-GGAA[13]GGCA[8]	D2S1338-21[C-0-0-13-8]	-	vd Gaag, in press	chr2_000036	8/194 Bhutan/Nepal, 6/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879644_218879651del]	D2S1338	g.218879582GGAA[13]GGCA[6]	GGAA[13]GGCA[6]	CE19-GGAA[13]GGCA[6]	D2S1338-19[C-0-0-13-6]	-	vd Gaag, in press	chr2_000017	1/194 Bhutan/Nepal, 12/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879644_218879651del]	D2S1338	g.218879582GGAA[13]GGCA[6]	GGAA[13]GGCA[6]	CE19-GGAA[13]GGCA[6]	D2S1338-19[A-0-0-13-6]	-	vd Gaag, in press	chr2_000017	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879644_218879655del]	D2S1338	g.218879582GGAA[13]GGCA[5]	GGAA[13]GGCA[5]	CE18-GGAA[13]GGCA[5]	D2S1338-18[C-0-0-13-5]	-	vd Gaag, in press	chr2_000011	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879662_218879673del]	D2S1338	g.218879582GGAA[14]GGCA[4	GGAA[14]GGCA[4	CE18-GGAA[14]GGCA[4	D2S1338-18[A-0-0-14-4]	-	vd Gaag, in press	chr2_000010	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879666_218879673del]	D2S1338	g.218879582GGAA[14]GGCA[5]	GGAA[14]GGCA[5]	CE19-GGAA[14]GGCA[5]	D2S1338-19[C-0-0-14-5]	-	vd Gaag, in press	chr2_000015	1/202 Netherlands, 2/194 Nepal/Bhuthan, 8/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879670_218879673del]	D2S1338	g.218879582GGAA[14]GGCA[6]	GGAA[14]GGCA[6]	CE20-GGAA[14]GGCA[6]	D2S1338-20[C-0-0-14-6]	-	vd Gaag, in press	chr2_000022	4/202 Netherlands, 2/194 Nepal/Bhuthan, 14/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del;218879670_218879673del]	D2S1338	g.218879582GGAA[14]GGCA[6]	GGAA[14]GGCA[6]	CE20-GGAA[14]GGCA[6]	D2S1338-20[A-0-0-14-6]	-	vd Gaag, in press	chr2_000022	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879600del]	D2S1338	g.218879582GGAA[14]GGCA[7]	GGAA[14]GGCA[7]	CE21-GGAA[14]GGCA[7]	D2S1338-21[C-0-0-14-7]	-	vd Gaag, in press	chr2_000035	5/202 Netherlands, 9/194 Nepal/Bhuthan, 8/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879602del;218879632_218879651del]	D2S1338	g.218879582GGAA[10]GGCA[6]	GGAA[10]GGCA[6]	CE16-GGAA[10]GGCA[6]	D2S1338-16[A-0-0-10-6]	-	vd Gaag, in press	chr2_000006	-	Germline	15/202 chromosomes	Johan den Dunnen
-/-	2	g.[218879593_218879604del;218879644A>C]	D2S1338	g.218879582GGAA[12]GGCA[8]	GGAA[12]GGCA[8]	CE20-GGAA[12]GGCA[8]	D2S1338-20[C-0-0-12-8]	-	vd Gaag, in press	chr2_000027	1/202 Netherlands, 1/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879604del;218879644A>G]	D2S1338	g.218879582GGAA[12]GGGA[1]GGCA[7]	GGAA[12]GGGA[1]GGCA[7]	CE20-GGAA[12]GGGA[1]GGCA[7]	D2S1338-20[C-12-0-G-7]	-	vd Gaag, in press	chr2_000023	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879604del]	D2S1338	g.218879582GGAA[13]GGCA[7]	GGAA[13]GGCA[7]	CE20-GGAA[13]GGCA[7]	D2S1338-20[C-0-0-13-7]	-	vd Gaag, in press	chr2_000025	18/202 Netherlands, 22/194 Nepal/Bhuthan, 11/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879608del;218879644_218879651del]	D2S1338	g.218879582GGAA[11]GGCA[6]	GGAA[11]GGCA[6]	CE17-GGAA[11]GGCA[6]	D2S1338-17[C-0-0-11-6]	-	vd Gaag, in press	chr2_000008	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879608del;218879644_218879651del]	D2S1338	g.218879582GGAA[11]GGCA[6]	GGAA[11]GGCA[6]	CE17-GGAA[11]GGCA[6]	D2S1338-17[A-0-0-11-6]	-	vd Gaag, in press	chr2_000008	46/202 Netherlands, 8/194 Nepal/Bhuthan, 3/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879608del;218879644_218879655del]	D2S1338	g.218879582GGAA[11]GGCA[5]	GGAA[11]GGCA[5]	CE16–GGAA[11]GGCA[5]	D2S1338-16[C-0-0-11-5]	-	vd Gaag, in press	chr2_000005	-	Germline	3/198 chromosomes	Johan den Dunnen
-/-	2	g.[218879593_218879608del]	D2S1338	g.218879582GGAA[12]GGCA[7]	GGAA[12]GGCA[7]	CE19-GGAA[12]GGCA[7]	D2S1338-19[C-0-0-12-7]	-	vd Gaag, in press	chr2_000018	12/202 Netherlands, 34/194 Nepal/Bhuthan, 21/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879593_218879612del]	D2S1338	g.218879582GGAA[11]GGCA[7]	GGAA[11]GGCA[7]	CE18-GGAA[11]GGCA[7]	D2S1338-18[C-0-0-11-7]	-	vd Gaag, in press	chr2_000013	3/202 Netherlands, 15/194 Nepal/Bhuthan, 8/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879632_218879644delinsC]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[9]GGCA[8]	GGAA[2]GGAC[1]GGAA[9]GGCA[8]	CE20-GGAA[2]GGAC[1]GGAA[9]GGCA[8]	D2S1338-20[C-2-1-9-8]	-	vd Gaag, in press	chr2_000028	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879636_218879647del]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[10]GGCA[7]	GGAA[2]GGAC[1]GGAA[10]GGCA[7]	CE20-GGAA[2]GGAC[1]GGAA[10]GGCA[7]	D2S1338-20[C-2-1-10-7]	-	vd Gaag, in press	chr2_000024	3/202 Netherlands, 1/194 Nepal/Bhuthan	Germline	-	Johan den Dunnen
-/-	2	g.[218879636_218879647dup]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[16]GGCA[7]	GGAA[2]GGAC[1]GGAA[16]GGCA[7]	CE26-GGAA[2]GGAC[1]GGAA[16]GGCA[7]	D2S1338-26[C-2-1-16-7]	-	vd Gaag, in press	chr2_000051	3/202 Netherlands, 1/194 Nepal/Bhuthan, 2/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879636_218879651del]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[10]GGCA[6]	GGAA[2]GGAC[1]GGAA[10]GGCA[6]	CE19-GGAA[2]GGAC[1]GGAA[10]GGCA[6]	D2S1338-19[C-2-1-10-6]	-	vd Gaag, in press	chr2_000016	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879640_218879644delinsC]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[11]GGCA[8]	GGAA[2]GGAC[1]GGAA[11]GGCA[8]	CE22-GGAA[2]GGAC[1]GGAA[11]GGCA[8]	D2S1338-22[C-0-0-15-7]	-	vd Gaag, in press	chr2_000041	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879640_218879647del]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[11]GGCA[7]	GGAA[2]GGAC[1]GGAA[11]GGCA[7]	CE21-GGAA[2]GGAC[1]GGAA[11]GGCA[7]	D2S1338-21[C-2-1-11-7]	-	vd Gaag, in press	chr2_000034	1/202 Netherlands, 2/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879640_218879647dup]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[15]GGCA[7]	GGAA[2]GGAC[1]GGAA[15]GGCA[7]	CE25-GGAA[2]GGAC[1]GGAA[15]GGCA[7]	D2S1338-25[C-2-1-15-7]	-	vd Gaag, in press	chr2_000049	29/202 Netherlands, 9/194 Nepal/Bhuthan, 4/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879644_218879647del]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[12]GGCA[7]	GGAA[2]GGAC[1]GGAA[12]GGCA[7]	CE22-GGAA[2]GGAC[1]GGAA[12]GGCA[7]	D2S1338-22[C-2-1-13-6]	-	vd Gaag, in press	chr2_000039	2/202 Netherlands, 5/194 Nepal/Bhuthan, 9/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879644_218879647dup]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[14]GGCA[7]	GGAA[2]GGAC[1]GGAA[14]GGCA[7]	CE24-GGAA[2]GGAC[1]GGAA[14]GGCA[7]	D2S1338-24[C-2-1-14-7]	-	vd Gaag, in press	chr2_000046	19/202 Netherlands, 31/194 Nepal/Bhuthan, 15/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879644_218879651del]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[12]GGCA[6]	GGAA[2]GGAC[1]GGAA[12]GGCA[6]	CE21-GGAA[2]GGAC[1]GGAA[12]GGCA[6]	D2S1338-21[C-2-1-12-6]	-	vd Gaag, in press	chr2_000032	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879647_218879648delinsAAGGCAGG]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[14]GGCA[8]	GGAA[2]GGAC[1]GGAA[14]GGCA[8]	CE25-GGAA[2]GGAC[1]GGAA[14]GGCA[8]	D2S1338-25[C-2-1-14-8]	-	vd Gaag, in press	chr2_000050	1/202 Netherlands, 1/194 Nepal/Bhuthan	Germline	-	Johan den Dunnen
-/-	2	g.[218879648C>A;218879652C>A]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[15]GGCA[5]	GGAA[2]GGAC[1]GGAA[15]GGCA[5]	CE23-GGAA[2]GGAC[1]GGAA[15]GGCA[5]	D2S1338-23[C-2-1-15-5]	-	vd Gaag, in press	chr2_000042	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879648C>A]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[14]GGCA[6]	GGAA[2]GGAC[1]GGAA[14]GGCA[6]	CE23-GGAA[2]GGAC[1]GGAA[14]GGCA[6]	D2S1338-23[C-2-1-14-6]	-	vd Gaag, in press	chr2_000043	1/202 Netherlands, 1/194 Nepal/Bhuthan	Germline	-	Johan den Dunnen
-/-	2	g.[218879648delinsAAGGAAGGA]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[16]GGCA[6]	GGAA[2]GGAC[1]GGAA[16]GGCA[6]	CE25-GGAA[2]GGAC[1]GGAA[16]GGCA[6]	D2S1338-25[C-2-1-16-6]	-	vd Gaag, in press	chr2_000048	2/202 Netherlands, 1/194 Nepal/Bhuthan	Germline	-	Johan den Dunnen
-/-	2	g.[218879648delinsAAGGA]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[15]GGCA[6]	GGAA[2]GGAC[1]GGAA[15]GGCA[6]	CE24-GGAA[2]GGAC[1]GGAA[15]GGCA[6]	D2S1338-24[C-2-1-15-6]	-	vd Gaag, in press	chr2_000045	1/202 Netherlands, 1/194 Nepal/Bhuthan, 2/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879648_218879652delinsA]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[14]GGCA[5]	GGAA[2]GGAC[1]GGAA[14]GGCA[5]	CE22-GGAA[2]GGAC[1]GGAA[14]GGCA[5]	D2S1338-22[A-0-0-18-4]	-	vd Gaag, in press	chr2_000037	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879666_218879673del]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[13]GGCA[5]	GGAA[2]GGAC[1]GGAA[13]GGCA[5]	CE21-GGAA[2]GGAC[1]GGAA[13]GGCA[5]	D2S1338-21[C-2-1-13-5]	-	vd Gaag, in press	chr2_000030	-	Germline	-	Johan den Dunnen
-/-	2	g.[218879670_218879673del]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[13]GGCA[6]	GGAA[2]GGAC[1]GGAA[13]GGCA[6]	CE22-GGAA[2]GGAC[1]GGAA[13]GGCA[6]	D2S1338-22[C-2-1-14-5]	-	vd Gaag, in press	chr2_000038	2/194 Bhutan/Nepal, 8/198 pygmie chromosomes	Germline	-	Johan den Dunnen
-/-	2	g.[218879670_218879673dup]	D2S1338	g.218879582GGAA[2]GGAC[1]GGAA[13]GGCA[8]	GGAA[2]GGAC[1]GGAA[13]GGCA[8]	CE24-GGAA[2]GGAC[1]GGAA[13]GGCA[8]	D2S1338-24[C-2-1-13-8]	-	vd Gaag, in press	chr2_000047	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-14[A-0-0-8-6]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	1/202 chromosomes	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-16[A-0-0-12-4]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	3/198 chromosomes	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-16[A-0-0-11-6]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	15/202 chromosomes	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-17[A-0-0-12-5]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-17[A-0-0-11-6]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-18[A-0-0-15-3]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-18[A-0-0-14-4]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-18[A-0-0-12-6]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-19[A-0-0-13-6]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-20[A-0-0-17-3]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen
-/-	2	g.218879547C>A	D2S1338	-	-	-	D2S1338-20[A-0-0-16-4]	rs6736691	vd Gaag, in press	chr2_000003	-	Germline	-	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »