View transcript variants

311 entries on 4 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACPT NM_033068.2 19 Both (homozygous) g.51297008C>T Seymen et al. 2016 ACPT_000001 - Claire Smith +/+ 7 c.713C>T r.(?) p.(Ser238Leu)
ACPT NM_033068.2 19 Both (homozygous) g.51294940C>T Seymen et al. 2016 ACPT_000002 - Claire Smith +/+ 4 c.331C>T r.(?) p.(Arg111Cys)
ACPT NM_033068.2 19 Both (homozygous) g.51294040C>T Seymen et al. 2016 ACPT_000003 - Claire Smith +/+ 3 c.226C>T r.(?) p.(Arg76Cys)
ACPT NM_033068.2 19 Paternal (confirmed) g.51295006G>A Seymen et al. 2016 ACPT_000004 - Claire Smith +/+ 4 c.397G>A r.(?) p.(Glu133Lys)
ACPT NM_033068.2 19 Maternal (confirmed) g.51294991G>C Seymen et al. 2016 ACPT_000005 - Claire Smith +/+ 4 c.382G>C r.(?) p.(Ala128Pro)
ACPT NM_033068.2 19 Both (homozygous) g.51297041C>T Smith et al. 2017 ACPT_000006 - Claire Smith +/+ 7 c.746C>T r.(?) p.(Pro249Leu)
ACPT NM_033068.2 19 Both (homozygous) g.51295037C>T Smith et al. 2017 ACPT_000007 - Claire Smith +/+ 4 c.428C>T r.(?) p.(Thr143Met)
AMBN NM_016519.5 4 Both (homozygous) g.71465502_71467849del Poulter et al. 2014 AMBN_000001 - Claire Smith +/+ 5i_6i c.294+139_531+478del r.(?) p.(Tyr99_Glu177del)
AMBN NM_016519.5 4 Both (homozygous) g.71468340G>C Prasad et al. 2016 AMBN_000002 - Claire Smith +/+ 6i c.532-1G>C r.spl? p.?
AMBN NM_016519.5 4 Paternal (confirmed) g.71472172C>T Lu et al. 2018 AMBN_000003 - Georgios Nikolopoulos +/. 13 c.1069C>T r.(?) p.(Pro357Ser)
AMELX NM_182680.1 X Paternal (confirmed) g.11312910T>C Kim et al. 2004 AMELX_000001 - Claire Smith +/+ 2 c.2T>C r.? p.?
AMELX NM_182680.1 X Maternal (confirmed) g.11312919G>C Kim et al. 2004 AMELX_000002 - Claire Smith +/+ 2 c.11G>C r.(?) p.(Trp4Ser)
AMELX NM_182680.1 X Maternal (confirmed) g.11312921_11312930delATTTTATTTG Lagerström-Fermér et al. 1995 AMELX_000003 - Claire Smith +/+ 2 c.13_22delATTTTATTTG r.(?) p.(Ile5Profs*41)
AMELX NM_182680.1 X Unknown g.11312919G>A Chan et al. 2011 AMELX_000004 - Claire Smith +/+ 2 c.11G>A r.(?) p.(Trp4*)
AMELX NM_182680.1 X Maternal (confirmed) g.11316240T>C Cho et al. 2014 AMELX_000005 - Claire Smith +/+ 4 c.120T>C r.(=) p.(=)
AMELX NM_182680.1 X Unknown g.11316363C>T Lench & Winter 1995 AMELX_000006 - Claire Smith +/+ 5 c.152C>T r.(?) p.(Thr51Ile)
AMELX NM_182680.1 X Unknown g.11316366delC Aldred et al. 1992 AMELX_000007 - Claire Smith +/+ 5 c.155delC r.(?) p.(Pro52Leufs*2)
AMELX NM_182680.1 X Unknown g.11316366delC Lench et al. 1994 AMELX_000007 - Claire Smith +/+ 5 c.155delC r.(?) p.(Pro52Leufs*2)
AMELX NM_182680.1 X Paternal (confirmed) g.11316366C>G Kida et al. 2007 AMELX_000008 - Claire Smith +/+ 5 c.155C>G r.(?) p.(Pro52Arg)
AMELX NM_182680.1 X Maternal (confirmed) g.11316689C>A Collier et al. 1997 AMELX_000009 - Claire Smith +/+ 6 c.208C>A r.(?) p.(Pro70Thr)
AMELX NM_182680.1 X Maternal (confirmed) g.11316689C>A Hart et al. 2000 AMELX_000009 - Claire Smith +/+ 6 c.208C>A r.(?) p.(Pro70Thr)
AMELX NM_182680.1 X Unknown g.11316689C>A Wright et al. 2011 AMELX_000009 - Claire Smith +/+ 6 c.208C>A r.(?) p.(Pro70Thr)
AMELX NM_182680.1 X Maternal (confirmed) g.11316689C>A Chan et al. 2011 AMELX_000009 - Claire Smith +/+ 6 c.208C>A r.(?) p.(Pro70Thr)
AMELX NM_182680.1 X Unknown g.11316866delC Chan et al. 2011 AMELX_000010 - Claire Smith +/+ 6 c.385delC r.(?) p.(His129Thrfs*60)
AMELX NM_182680.1 X Unknown g.11316711A>T Hart et al. 2002 AMELX_000011 - Claire Smith +/+ 6 c.230A>T r.(?) p.(His77Leu)
AMELX NM_182680.1 X Maternal (confirmed) g.11316901delC Greene et al. 2002 AMELX_000012 - Claire Smith +/+ 6 c.420delC r.(?) p.(Tyr141Thrfs*48)
AMELX NM_182680.1 X Unknown g.11316954delC Lench & Winter 1995 AMELX_000013 - Claire Smith +/+ 6 c.473delC r.(?) p.(Pro158Hisfs*31)
AMELX NM_182680.1 X Unknown g.11316954delC Wright et al. 2011 AMELX_000013 - Claire Smith +/+ 6 c.473delC r.(?) p.(Pro158Hisfs*31)
AMELX NM_182680.1 X Maternal (confirmed) g.11316999delC Lee et al. 2011 AMELX_000014 - Claire Smith +/+ 6 c.518delC r.(?) p.(Pro173Leufs*16)
AMELX NM_182680.1 X Unknown g.11317022delC Kindelan et al. 2000 AMELX_000015 - Claire Smith +/+ 6 c.541delC r.(?) p.(Leu181Cysfs*8)
AMELX NM_182680.1 X Unknown g.11317022delC Hart et al. 2002 AMELX_000015 - Claire Smith +/+ 6 c.541delC r.(?) p.(Leu181Cysfs*8)
AMELX NM_182680.1 X Unknown g.11317052G>T Lench & Winter 1995 AMELX_000016 - Claire Smith +/+ 6 c.571G>T r.(?) p.(Glu191*)
AMELX NM_182680.1 X Unknown g.11316366C>T Prasad et al. 2016 AMELX_000017 - Claire Smith +/+ 5 c.155C>T r.(?) p.(Pro52Leu)
AMELX NM_182680.1 X Unknown g.1_12024000del Hobson et al. 2009 AMELX_000018 - Claire Smith +/+ All c.-11311600_*705268del r.0? p.0?
AMELX NM_182680.1 X Maternal (confirmed) g.11290049_11386288del Hu et al. 2012 AMELX_000019 - Claire Smith +/+ All c.-21552_*67556del r.0? p.0?
AMELX NM_182680.1 X Maternal (confirmed) g.11272245_11324898del Hu et al. 2012 AMELX_000020 - Claire Smith +/+ All c.-39356_*6166del r.0? p.0?
AMELX NM_182680.1 X Unknown g.11681575_11686297del Lagerström et al. 1991 AMELX_000021 - Claire Smith ./. 2i_7 c.*362843_*367565del r.(=) p.(=)
AMELX NM_182680.1 X Maternal (confirmed) g.11316723C>T Kim et al. 2017 AMELX_000022 - Claire Smith +/+ 6 c.242C>T r.(?) p.(Pro81Leu)
AMELX NM_182680.1 X Both (homozygous) g.11316396delC Duan et al. 2019 AMELX_000023 - Georgios Nikolopoulos +/+ 5 c.185delC r.(?) p.Pro62Argfs*47
AMTN NM_212557.3 4 Paternal (confirmed) g.71385896-71394573delinsCTCA Smith et al. 2016 AMTN_000001 - Claire Smith +/+ 2i_6i c.54+1347_330+98delinsCTCA r.? p.?
C4orf26 NM_178497.3 4 Parent #1 g.76481343_76481348delGGTAACinsATGCTGGTTACTGGTA Parry et al. 2012 C4orf26_000001 - Claire Smith +/+ 1 c.51_56delinsATGCTGGTTACTGGTA r.(?) p.(Val18Cysfs*23)
C4orf26 NM_178497.3 4 Parent #2 g.76489574G>A Parry et al. 2012 C4orf26_000002 - Claire Smith +/+ 2 c.318G>A r.(?) p.(Trp106*)
C4orf26 NM_178497.3 4 Parent #1 g.76481343_76481348delGGTAACinsATGCTGGTTACTGGTA Parry et al. 2012 C4orf26_000001 - Claire Smith +/+ 1 c.51_56delinsATGCTGGTTACTGGTA r.(?) p.(Val18Cysfs*23)
C4orf26 NM_178497.3 4 Parent #2 g.76489574G>A Parry et al. 2012 C4orf26_000002 - Claire Smith +/+ 2 c.318G>A r.(?) p.(Trp106*)
C4orf26 NM_178497.3 4 Both (homozygous) g.76489322A>T Parry et al. 2012 C4orf26_000003 - Claire Smith +/+ 1i c.68-2A>T r.spl? p.?
C4orf26 NM_178497.3 4 Both (homozygous) g.76489385C>A Parry et al. 2012 C4orf26_000004 - Claire Smith +/+ 2 c.129C>A r.(?) p.(Cys43*)
C4orf26 NM_178497.3 4 Both (homozygous) g.76489485C>T Parry et al. 2012 C4orf26_000005 - Claire Smith +/+ 2 c.229C>T r.(?) p.(Arg77*)
C4orf26 NM_001206981.1 4 Both (homozygous) g.76481331_76481338delATGCTGGT Prasad et al. 2016 C4orf26_000006 - Claire Smith ./. 1 c.39_46delATGCTGGT r.(?) p.(Cys14Glyfs*18)
C4orf26 NM_178497.3 4 Both (homozygous) g.76481343_76481348delGGTAACinsATGCTGGTTACTGGTA Parry et al. 2012 C4orf26_000001 - Claire Smith +/+ 1 c.51_56delinsATGCTGGTTACTGGTA r.(?) p.(Val18Cysfs*23)
COL17A1 NM_000494.3 10 Maternal (confirmed) g.105819876C>T Prasad et al. 2016 COL17A1_000001 - Claire Smith +/+ 14i c.1141+1G>A r.spl? p.?
COL17A1 NM_000494.3 10 Maternal (confirmed) g.105794469G>A Floeth & Bruckner-Tuderman 1999 COL17A1_000002 - Claire Smith +/+ 51 c.3676C>T r.(?) p.(Arg1226*)
COL17A1 NM_000494.3 10 Maternal (confirmed) g.105812848C>A McGrath et al. 1996 COL17A1_000003 - Claire Smith +/+ 23 c.1880G>T r.(?) p.(Gly627Val)
COL17A1 NM_000494.3 10 Paternal (confirmed) g.105812830C>T Tasanen et al. 2000 COL17A1_000004 - Claire Smith +/+ 23 c.1898G>A r.(?) p.(Gly633Asp)
COL17A1 NM_000494.3 10 Unknown g.105813686C>T Väisänen et al. 2005 COL17A1_000005 - Claire Smith +/+ 22 c.1826G>A r.(?) p.(Gly609Asp)
COL17A1 NM_000494.3 10 Both (homozygous) g.105813678C>T Väisänen et al. 2005 COL17A1_000006 - Claire Smith +/+ 22 c.1834G>A r.(?) p.(Gly612Arg)
COL17A1 NM_000494.3 10 Both (homozygous) g.105806533T>C Väisänen et al. 2005 COL17A1_000007 - Claire Smith +/+ 31i c.2336-2A>G r.spl? p.?
COL17A1 NM_000494.3 10 Maternal (confirmed) g.105803610C>A Prasad et al. 2016 COL17A1_000008 - Claire Smith +/+ 34 c.2407G>T r.(?) p.(Gly803*)
COL17A1 NM_000494.3 10 Maternal (confirmed) g.105815581C>T Prasad et al. 2016 COL17A1_000009 - Claire Smith +/+ 18 c.1646G>A r.(?) p.(Trp549*)
COL17A1 NM_000494.3 10 Unknown g.105812855G>A Prasad et al. 2016 COL17A1_000010 - Claire Smith +/+ 23 c.1873C>T r.(?) p.(Arg625*)
COL17A1 NM_000494.3 10 Unknown g.105812855G>A Prasad et al. 2016 COL17A1_000010 - Claire Smith +/+ 23 c.1873C>T r.(?) p.(Arg625*)
COL17A1 NM_000494.3 10 Unknown g.105824244delT Murrell et al. 2007 COL17A1_000011 - Georgios Nikolopoulos +/. 10 c.718delA r.(?) p.(Thr240Profs*52)
DLX3 NM_005220.2 17 Maternal (confirmed) g.48070882C>G Nieminen et al. 2011 DLX3_000001 - Claire Smith +/+ 2 c.398G>C r.(?) p.(Arg133Pro)
DLX3 NM_005220.2 17 Maternal (confirmed) g.48069200G>A Nieminen et al. 2011 DLX3_000002 - Claire Smith +/+ 3 c.545C>T r.(?) p.(Ser182Phe)
DLX3 NM_005220.2 17 Unknown g.48069221A>G Mayer et al. 2009 DLX3_000003 - Claire Smith +/+ 3 c.524T>C r.(?) p.(Ile175Thr)
DLX3 NM_005220.2 17 Unknown g.48069212T>C Li et al. 2015 DLX3_000004 - Claire Smith +/+ 3 c.533A>G r.(?) p.(Gln178Arg)
DLX3 NM_005220.2 17 Paternal (confirmed) g.48069183_48069184delAG Dong et al. 2005 DLX3_000005 - Claire Smith +/+ 3 c.561_562delCT r.(?) p.(Tyr188Glnfs*13)
DLX3 NM_005220.2 17 Paternal (confirmed) g.48069183_48069184delAG Lee et al. 2008 DLX3_000005 - Claire Smith +/+ 3 c.561_562delCT r.(?) p.(Tyr188Glnfs*13)
DLX3 NM_005220.2 17 Maternal (confirmed) g.48069183_48069184delAG Wright et al. 2008 DLX3_000005 - Claire Smith +/+ 3 c.561_562delCT r.(?) p.(Tyr188Glnfs*13)
DLX3 NM_005220.2 17 Paternal (confirmed) g.48069183_48069184delAG Kim et al. 2016 DLX3_000005 - Claire Smith +/+ 3 c.561_562delCT r.(?) p.(Tyr188Glnfs*13)
DLX3 NM_005220.2 17 Unknown g.48069171_48069174delCCCC Price et al. 1998 DLX3_000006 - Claire Smith +/+ 3 c.571_574delGGGG r.(?) p.(Gly191Argfs*66)
DLX3 NM_005220.2 17 Maternal (confirmed) g.48069171_48069174delCCCC Price et al. 1998 DLX3_000006 - Claire Smith +/+ 3 c.571_574delGGGG r.(?) p.(Gly191Argfs*66)
DLX3 NM_005220.2 17 Paternal (confirmed) g.48069171delC Whitehouse et al. 2018 DLX3_000007 - Claire Smith +/+ 3 c.574delG r.(?) p.(Glu192Argfs*66)
DLX3 NM_005220.2 17 Unknown g.48070804C>A Whitehouse et al. 2018 DLX3_000008 - Claire Smith +/+ 2 c.476G>T r.(?) p.(Arg159Leu)
ENAM NM_031889.2 4 Paternal (confirmed) g.71497439delA Simmer et al. 2013 ENAM_000001 - Claire Smith +/+ 3 c.107delA r.(?) p.(Asn36Ilefs*22)
ENAM NM_031889.2 4 Unknown g.71497599A>T Mårdh et al. 2002 ENAM_000002 - Claire Smith +/+ 4 c.157A>T r.(?) p.(Lys53*)
ENAM NM_031889.2 4 Maternal (confirmed) g.71497599A>T Mårdh et al. 2002 ENAM_000002 - Claire Smith +/+ 4 c.157A>T r.(?) p.(Lys53*)
ENAM NM_031889.2 4 Maternal (confirmed) g.71500023A>C Kim et al. 2005 ENAM_000003 - Claire Smith +/+ 5i c.211-2A>C r.spl? p.?
ENAM NM_031889.2 4 Maternal (confirmed) g.71500172C>T Seymen et al. 2014 ENAM_000004 - Claire Smith +/+ 6 c.358C>T r.(?) p.(Gln120*)
ENAM NM_031889.2 4 Paternal (confirmed) g.71500268G>T Seymen et al. 2014 ENAM_000005 - Claire Smith +/+ 6 c.454G>T r.(?) p.(Glu152*)
ENAM NM_031889.2 4 Unknown g.71501612G>A Rajpar et al. 2001 ENAM_000006 - Claire Smith +/+ 7i c.534+1G>A r.spl? p.?
ENAM NM_031889.2 4 Unknown g.71501612G>A Rajpar et al. 2001 ENAM_000006 - Claire Smith +/+ 7i c.534+1G>A r.spl? p.?
ENAM NM_031889.2 4 Unknown g.71503505A>G Wright et al. 2011 ENAM_000007 - Claire Smith +/+ 7i c.535-2A>G r.spl? p.?
ENAM NM_031889.2 4 Unknown g.71503508G>T Gutierrez et al. 2007 ENAM_000008 - Claire Smith +/+ 8 c.536G>T r.(?) p.(Arg179Met)
ENAM NM_031889.2 4 Paternal (confirmed) g.71503561delG Kida et al. 2002 ENAM_000009 - Claire Smith +/+ 8i c.588+1delG r.spl? p.?
ENAM NM_031889.2 4 Unknown g.71503561delG Kida et al. 2002 ENAM_000009 - Claire Smith +/+ 8i c.588+1delG r.spl? p.?
ENAM NM_031889.2 4 Paternal (inferred) g.71503561delG Kida et al. 2002 ENAM_000009 - Claire Smith +/+ 8i c.588+1delG r.spl? p.?
ENAM NM_031889.2 4 Unknown g.71503561delG Kida et al. 2002 ENAM_000009 - Claire Smith +/+ 8i c.588+1delG r.spl? p.?
ENAM NM_031889.2 4 Unknown g.71503561delG Kida et al. 2002 ENAM_000009 - Claire Smith +/+ 8i c.588+1delG r.spl? p.?
ENAM NM_031889.2 4 Maternal (confirmed) g.71507790C>T Chan et al. 2010 ENAM_000010 - Claire Smith +/+ 9 c.647C>T r.(?) p.(Ser216Leu)
ENAM NM_031889.2 4 Paternal (confirmed) g.71508402_71508403insAG Hart et al. 2003 ENAM_000011 - Claire Smith +/+ 9 c.1259_1260insAG r.(?) p.(Pro422Valfs*27)
ENAM NM_031889.2 4 Paternal (confirmed) g.71507880C>A Ozdemir et al. 2005 ENAM_000012 - Claire Smith +/+ 9 c.737C>A r.(?) p.(Ser246*)
ENAM NM_031889.2 4 Paternal (confirmed) g.71508164_71508165insGTCAGTACCAGTACTGTGTCA Ozdemir et al. 2005 ENAM_000013 - Claire Smith +/+ 9 c.1021_1022insGTCAGTACCAGTACTGTGTCA r.(?) p.(Val340_Met341insSerGlnTyrGlnTyrCysVal)
ENAM NM_031889.2 4 Maternal (confirmed) g.71508402_71508403insAG Hart et al. 2003 ENAM_000011 - Claire Smith +/+ 9 c.1259_1260insAG r.(?) p.(Pro422Valfs*27)
ENAM NM_031889.2 4 Both (homozygous) g.71508402_71508403insAG Hart et al. 2003 ENAM_000011 - Claire Smith +/+ 9 c.1259_1260insAG r.(?) p.(Pro422Valfs*27)
ENAM NM_031889.2 4 Paternal (confirmed) g.71508402_71508403insAG Hart et al. 2003 ENAM_000011 - Claire Smith +/+ 9 c.1259_1260insAG r.(?) p.(Pro422Valfs*27)
ENAM NM_031889.2 4 Both (homozygous) g.71508402_71508403insAG Hart et al. 2003 ENAM_000011 - Claire Smith +/+ 9 c.1259_1260insAG r.(?) p.(Pro422Valfs*27)
ENAM NM_031889.2 4 Both (homozygous) g.71508402_71508403insAG Hart et al. 2003 ENAM_000011 - Claire Smith +/+ 9 c.1259_1260insAG r.(?) p.(Pro422Valfs*27)
ENAM NM_031889.2 4 Maternal (confirmed) g.71510134delT Kang et al. 2009 ENAM_000014 - Claire Smith +/+ 9 c.2991delT r.(?) p.(Leu998Trpfs*65)
ENAM NM_031889.2 4 Paternal (confirmed) g.71500221_71500222insTCAAAAAAGCCGACCACAA Wang et al. 2015 ENAM_000015 - Claire Smith +/+ 6 c.407_408insTCAAAAAAGCCGACCACAA r.(?) p.(Lys136Asnfs*16)
ENAM NM_031889.2 4 Maternal (confirmed) g.71497581delA Wang et al. 2015 ENAM_000016 - Claire Smith +/+ 4 c.139delA r.(?) p.(Met47Cysfs*11)
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