PMID: 27316555

Proposed nomenclature for microhaplotypes.

Human genomics
KK Kidd
2016-06-17

46 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-76228571-A-T TMEM235 c.190+277A>T - IntronicSNV - 2/4
17-76228571-A-C TMEM235 c.190+277A>C - IntronicSNV - 2/4
1-230820578-G-A COG2 c.1229-253G>A - IntronicSNV - 11/17
17-43472507-A-G ARHGAP27 c.*315T>C - 3-UTRSNV 17/17 -
17-76228630-C-T TMEM235 c.190+336C>T - IntronicSNV - 2/4
19-4852337-A-C PLIN3 c.349-24T>G - IntronicSNV - 4/7
19-4852137-C-T PLIN3 c.525G>A p.Ser175Ser Synonymous 5/8 -
1-3743391-C-T CEP104 c.2152-83G>A - IntronicSNV - 15/21
12-103260634-T-C PAH c.442-193A>G - IntronicSNV - 4/12
3-46556948-T-G LRRC2 c.*3556A>C - 3-UTRSNV 9/9 -
1-3743319-G-A CEP104 c.2152-11C>T - IntronicSNV - 15/21
11-113111665-G-A NCAM1 c.1796-5425G>A - intron_variant - 14/19
1-230820605-G-T COG2 c.1229-226G>T - IntronicSNV - 11/17
2-109586437-C-T EDAR c.-19+18979G>A - intron_variant - 1/11
6-16399647-G-A ATXN1 c.1-71106C>T - IntronicSNV - 7/8
6-16399647-G-C ATXN1 c.1-71106C>G - IntronicSNV - 7/8
22-19951207-C-G COMT c.408C>G p.Leu136Leu Synonymous 4/6 -
22-19951207-C-T COMT c.408C>T p.Leu136Leu Synonymous 4/6 -
17-43472321-A-G ARHGAP27 c.*501T>C - 3-UTRSNV 17/17 -
1-230820630-G-A COG2 c.1229-201G>A - IntronicSNV - 11/17
2-109586313-G-A EDAR c.-19+19103C>T - intron_variant - 1/11
2-109586313-G-T EDAR c.-19+19103C>A - intron_variant - 1/11
11-113111501-T-C NCAM1 c.1796-5589T>C - intron_variant - 14/19
4-187538133-A-G FAT1 c.9075+26T>C - IntronicSNV - 11/26
8-11595829-C-T GATA4 c.617-10599C>T - IntronicSNV - 2/6
8-11595969-G-A GATA4 c.617-10459G>A - IntronicSNV - 2/6
2-149954097-A-G LYPD6B c.1-33366A>G - IntronicSNV - 1/6
4-187538330-G-A FAT1 c.8904C>T p.Ala2968Ala Synonymous 11/27 -
12-103260819-T-C PAH c.442-378A>G - IntronicSNV - 4/12
1-3743391-C-G CEP104 c.2152-83G>C - IntronicSNV - 15/21
19-4852337-A-G PLIN3 c.349-24T>C - IntronicSNV - 4/7
2-109586371-T-C EDAR c.-19+19045A>G - intron_variant - 1/11
11-113211370-T-A TTC12 c.827-16T>A - IntronicSNV - 10/21
1-3743132-T-C CEP104 c.2189-132A>G - IntronicSNV - 16/21
11-113211370-T-G TTC12 c.827-16T>G - IntronicSNV - 10/21
11-113211329-G-A TTC12 c.827-57G>A - IntronicSNV - 10/21
17-76228630-C-G TMEM235 c.190+336C>G - IntronicSNV - 2/4
2-149954253-G-A LYPD6B c.1-33210G>A - IntronicSNV - 1/6
2-149954253-G-C LYPD6B c.1-33210G>C - IntronicSNV - 1/6
11-113211329-G-T TTC12 c.827-57G>T - IntronicSNV - 10/21
1-230820351-A-G COG2 c.1229-480A>G - IntronicSNV - 11/17
17-45695832-C-T NPEPPS c.2403+9C>T - IntronicSNV - 20/22
6-16399680-C-T ATXN1 c.1-71139G>A - IntronicSNV - 7/8
1-3743350-G-C CEP104 c.2152-42C>G - IntronicSNV - 15/21
6-16399721-A-G ATXN1 c.1-71180T>C - IntronicSNV - 7/8
17-45695914-T-C NPEPPS c.2403+91T>C - IntronicSNV - 20/22