All transcript variants in gene EFHC1

Information The variants shown are described using the NM_018100.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

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