All variants affecting transcripts

47 entries on 1 page. Showing entries 1 - 47.
Legend  

AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (canFam3)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB1 NM_001003215.1 14 Unknown g.13713845_13713848del - Alves L et al., (2011) OMIA001402-9615 ABCB1_000001 - - Daniëlle Vonk +/. 4 c.296_299del r.(?) p.(Asn100Ilefs*13)
ARSG NM_001048098.1 9 Both (homozygous) g.15071276G>A - Abitbol et al. (2010) OMIA001503-9615 ARSG_000001 - - Daniëlle Vonk +/. 2 c.296G>A r.(?) p.(Arg99His)
CLN6 NM_001011888.1 30 Both (homozygous) g.32247875A>G - OMIA001443-9615 CLN6_000001 - - P. Taschner +/. 7 c.829T>C r.(?) p.(Trp277Arg)
CLN8 NM_001012343.1 37 Both (homozygous) g.30883950G>A - OMIA 001506-9615 CLN8_000001 - - P. Taschner +/. 3 c.585G>A r.(?) p.(Trp195*)
CTSD NM_001025621.1 18 Both (homozygous) g.46013354C>T - Awano et al. (2006) OMIA001505-9615 CTSD_000001 - - Daniëlle Vonk +/. 5 c.597G>A r.(?) p.(Met199Ile)
ENPP1 XM_003638785.2 1 Both (homozygous) g.263821A>T - - ENPP1_000011 - - Tobias Stokkermans ./. - c.1919-143T>A - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.264156C>T - - ENPP1_000010 - - Tobias Stokkermans ./. - c.1919-478G>A - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.269200G>A - - ENPP1_000008 - - Tobias Stokkermans ./. - c.1539-65C>T - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.273487A>G - - ENPP1_000009 - - Tobias Stokkermans ./. - c.1378+78T>C - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.273942C>T - - ENPP1_000004 - - Tobias Stokkermans ./. - c.1247-246G>A - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.275643A>G - - ENPP1_000005 - - Tobias Stokkermans ./. - c.1246+275T>C - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.281185T>A - - ENPP1_000006 - - Tobias Stokkermans ./. - c.769-296A>T - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.286450A>C - - ENPP1_000007 - - Tobias Stokkermans ./. - c.529+392T>G - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.290868G>T - - ENPP1_000002 - - Tobias Stokkermans ./. - c.214-1122C>A - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.302171T>G - - ENPP1_000003 - - Tobias Stokkermans ./. - c.214-12425A>C - -
ENPP1 XM_003638785.2 1 Both (homozygous) g.315714A>G - - ENPP1_000001 - - Tobias Stokkermans ./. - c.213+6137T>C - -
HEXA XM_544758.4 30 Both (homozygous) g.35841247C>T - Sanders et al. (2013) OMIA001461-9615 HEXA_000001 - - Daniëlle Vonk +/. 1 c.967G>A r.(?) p.(Glu323Lys)
KCNG2 XM_005615277.1 1 Both (homozygous) g.817275A>G - - KCNG2_000024 - - Tobias Stokkermans ./. - c.461-10581T>C - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.817683C>T - - KCNG2_000020 - - Tobias Stokkermans ./. - c.461-10989G>A - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.817851G>A - - KCNG2_000021 - - Tobias Stokkermans ./. - c.460+10951C>T - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.818107C>T - - KCNG2_000022 - - Tobias Stokkermans ./. - c.460+10695G>A - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.819107G>T - - KCNG2_000023 - - Tobias Stokkermans ./. - c.460+9695C>A - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.820027T>A - - KCNG2_000016 - - Tobias Stokkermans ./. - c.460+8775A>T - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.820340T>C - - KCNG2_000001 - - Tobias Stokkermans ./. - c.460+8462A>G - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.820737T>C - - KCNG2_000002 - - Tobias Stokkermans ./. - c.460+8065A>G - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.820819C>T - - KCNG2_000003 - - Tobias Stokkermans ./. - c.460+7983G>A - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.822555A>G - - KCNG2_000004 - - Tobias Stokkermans ./. - c.460+6247T>C - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.822556A>G - - KCNG2_000005 - - Tobias Stokkermans ./. - c.460+6246T>C - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.822896A>G - - KCNG2_000006 - - Tobias Stokkermans ./. - c.460+5906T>C - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.823678T>A - - KCNG2_000007 - - Tobias Stokkermans ./. - c.460+5124A>T - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.823808G>A - - KCNG2_000008 - - Tobias Stokkermans ./. - c.460+4994C>T - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.824171T>C - - KCNG2_000009 - - Tobias Stokkermans ./. - c.460+4631A>G - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.824471T>G - - KCNG2_000010 - - Tobias Stokkermans ./. - c.460+4331A>C - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.825788A>G - - KCNG2_000011 - - Tobias Stokkermans ./. - c.460+3014T>C - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.826740T>A - - KCNG2_000012 - - Tobias Stokkermans ./. - c.460+2062A>T - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.827500C>T - - KCNG2_000013 - - Tobias Stokkermans ./. - c.460+1302G>A - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.827501T>G - - KCNG2_000014 - - Tobias Stokkermans ./. - c.460+1301A>C - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.827503G>A - - KCNG2_000015 - - Tobias Stokkermans ./. - c.460+1299C>T - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.827517T>A - - KCNG2_000017 - - Tobias Stokkermans ./. - c.460+1285A>T - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.827534T>C - - KCNG2_000018 - - Tobias Stokkermans ./. - c.460+1268A>G - -
KCNG2 XM_005615277.1 1 Both (homozygous) g.827536C>A - - KCNG2_000019 - - Tobias Stokkermans ./. - c.460+1266G>T - -
LOC102154257 XR_291479.1 1 Unknown g.122617825G>A - dbSNP LOC102154257_000001 - - Stephen ./. - n.42+747G>A - -
LOC102154257 XR_291479.1 1 Unknown g.122617825G>A - dbSNP LOC102154257_000001 - - Stephen ./. - n.42+747G>A - -
LOC102154257 XR_291479.1 1 Unknown g.122617825G>A - dbSNP LOC102154257_000001 - - Stephen ./. - n.42+747G>A - -
SERPINH1 NM_001165888.1 21 Both (homozygous) g.23033735A>G - Drögemüller C, 2009, OMIA001483-9615 SERPINH1_000001 - - Daniëlle Vonk +/. 5 c.977T>C r.(977u>c) p.(Leu326Pro)
TPO NM_001003009.2 17 Unknown g.784624C>T - Fyfe et al. (2003)OMIA00536-9615 TPO_000001 sjpieterman - Daniëlle Vonk +/. - - - -
TPP1 NM_001013847.1 21 Both (homozygous) g.29925074delG - Awona T, et al., (2006)OMIA001472-9615 TPP1_000001 - - Daniëlle Vonk +/. - - - -
Legend