All variants affecting transcripts

53 entries on 1 page. Showing entries 1 - 53.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>T - EFHC1_000001 - Marina Gonsales -?/. - c.475C>T r.(?) p.(Arg159Trp)
EFHC1 NM_018100.3 6 Unknown g.52438493C>G - EFHC1_000002 - Marina Gonsales -?/. - c.475C>G r.(?) p.(Arg159Gly)
EFHC1 NM_018100.3 6 Unknown g.52438563G>A - EFHC1_000003 - Marina Gonsales -?/. - c.545G>A r.(?) p.(Arg182His)
EFHC1 NM_018100.3 6 Unknown g.52438563G>A - EFHC1_000003 - Marina Gonsales -?/. - c.545G>A r.(?) p.(Arg182His)
EFHC1 NM_018100.3 6 Unknown g.52438563G>A - EFHC1_000003 - Marina Gonsales -?/. - c.545G>A r.(?) p.(Arg182His)
EFHC1 NM_018100.3 6 Unknown g.52454267A>G - EFHC1_000008 - Marina Gonsales ?/. - c.896A>G r.(?) p.(Lys299Arg)
EFHC1 NM_018100.3 6 Unknown g.52438563G>A - EFHC1_000003 - Marina Gonsales -?/. - c.545G>A r.(?) p.(Arg182His)
EFHC1 NM_018100.3 6 Unknown g.52438563G>A - EFHC1_000003 - Marina Gonsales -?/. - c.545G>A r.(?) p.(Arg182His)
EFHC1 NM_018100.3 6 Unknown g.52452776G>A - EFHC1_000004 - Marina Gonsales ?/. - c.662G>A r.(?) p.(Arg221His)
EFHC1 NM_018100.3 6 Unknown g.52452799T>C - EFHC1_000005 - Marina Gonsales +?/. - c.685T>C r.(?) p.(Phe229Leu)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52452799T>C - EFHC1_000005 - Marina Gonsales +?/. - c.685T>C r.(?) p.(Phe229Leu)
EFHC1 NM_018100.3 6 Unknown g.52452799T>C - EFHC1_000005 - Marina Gonsales +?/. - c.685T>C r.(?) p.(Phe229Leu)
EFHC1 NM_018100.3 6 Unknown g.52454258G>A - EFHC1_000007 - Marina Gonsales ?/. - c.887G>A r.(?) p.(Arg296His)
EFHC1 NM_018100.3 6 Unknown g.52454258G>A - EFHC1_000007 - Marina Gonsales ?/. - c.887G>A r.(?) p.(Arg296His)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52479101T>C - EFHC1_000006 - Marina Gonsales -?/. - c.1343T>C r.(?) p.(Met448Thr)
EFHC1 NM_018100.3 6 Unknown g.52490264G>A - EFHC1_000009 - Marina Gonsales ?/. - c.1765G>A r.(?) p.(Glu589Lys)
EFHC1 NM_018100.3 6 Unknown g.52490319A>G - EFHC1_000010 - Marina Gonsales ?/. - c.1820A>G r.(?) p.(Asn607Ser)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
EFHC1 NM_018100.3 6 Unknown g.52492273A>C - EFHC1_000011 - Marina Gonsales -?/. - c.1855A>C r.(?) p.(Ile619Leu)
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