Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52807687C>A | CA384985768 | KRT4 | c.1303G>T (p.Glu435Ter) c.*815G>T (n.*815G>T) | |
12 | g.52807687C= | CA2036689008 | KRT4 | c.1303G= (p.Glu435=) c.*815G= (n.*815G=) | |
12 | g.52807687C>G | CA384985770 | KRT4 | c.1303G>C (p.Glu435Gln) c.*815G>C (n.*815G>C) | |
12 | g.52807687C>T | CA126972 | KRT4 | c.1303G>A (p.Glu435Lys) c.*815G>A (n.*815G>A) | ClinVar dbSNP |
12 | g.52807688G>A | CA237272247 | KRT4 | c.1302C>T (p.Ile434=) c.*814C>T (n.*814C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52807688G>C | CA384985773 | KRT4 | c.1302C>G (p.Ile434Met) c.*814C>G (n.*814C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52807688G= | CA2036689009 | KRT4 | c.1302C= (p.Ile434=) c.*814C= (n.*814C=) | |
12 | g.52807688G>T | CA480075628 | KRT4 | c.1302C>A (p.Ile434=) c.*814C>A (n.*814C>A) | |
12 | g.52807689A>C | CA384985776 | KRT4 | c.1301T>G (p.Ile434Ser) c.*813T>G (n.*813T>G) | |
12 | g.52807689A>G | CA384985779 | KRT4 | c.1301T>C (p.Ile434Thr) c.*813T>C (n.*813T>C) | |
12 | g.52807689A>T | CA384985777 | KRT4 | c.1301T>A (p.Ile434Asn) c.*813T>A (n.*813T>A) | |
12 | g.52807690T>A | CA6588448 | KRT4 | c.1300A>T (p.Ile434Phe) c.*812A>T (n.*812A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52807690T>C | CA384985785 | KRT4 | c.1300A>G (p.Ile434Val) c.*812A>G (n.*812A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52807690T>G | CA6588447 | KRT4 | c.1300A>C (p.Ile434Leu) c.*812A>C (n.*812A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52807690T= | CA2036689010 | KRT4 | c.1300A= (p.Ile434=) c.*812A= (n.*812A=) | |
12 | g.52807691G>A | CA480075632 | KRT4 | c.1299C>T (p.Asp433=) c.*811C>T (n.*811C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52807691G>C | CA384985787 | KRT4 | c.1299C>G (p.Asp433Glu) c.*811C>G (n.*811C>G) | |
12 | g.52807691G= | CA2036689011 | KRT4 | c.1299C= (p.Asp433=) c.*811C= (n.*811C=) | |
12 | g.52807691G>T | CA384985789 | KRT4 | c.1299C>A (p.Asp433Glu) c.*811C>A (n.*811C>A) | gnomAD v4 |
12 | g.52807692T>A | CA384985791 | KRT4 | c.1298A>T (p.Asp433Val) c.*810A>T (n.*810A>T) | COSMIC |
12 | g.52807692T>C | CA6588449 | KRT4 | c.1298A>G (p.Asp433Gly) c.*810A>G (n.*810A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52807692T>G | CA384985795 | KRT4 | c.1298A>C (p.Asp433Ala) c.*810A>C (n.*810A>C) | |
12 | g.52807692T= | CA2036689012 | KRT4 | c.1298A= (p.Asp433=) c.*810A= (n.*810A=) | |
12 | g.52807693C>A | CA384985798 | KRT4 | c.1297G>T (p.Asp433Tyr) c.*809G>T (n.*809G>T) | |
12 | g.52807693C= | CA2036689013 | KRT4 | c.1297G= (p.Asp433=) c.*809G= (n.*809G=) | |
12 | g.52807693C>G | CA384985800 | KRT4 | c.1297G>C (p.Asp433His) c.*809G>C (n.*809G>C) | |
12 | g.52807693C>T | CA384985802 | KRT4 | c.1297G>A (p.Asp433Asn) c.*809G>A (n.*809G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.52807694C>A | CA384985803 | KRT4 | c.1296G>T (p.Leu432Phe) c.*808G>T (n.*808G>T) | |
12 | g.52807694C= | CA2036689014 | KRT4 | c.1296G= (p.Leu432=) c.*808G= (n.*808G=) | |
12 | g.52807694C>G | CA384985805 | KRT4 | c.1296G>C (p.Leu432Phe) c.*808G>C (n.*808G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52807694C>T | CA480075634 | KRT4 | c.1296G>A (p.Leu432=) c.*808G>A (n.*808G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52807695A>C | CA384985807 | KRT4 | c.1295T>G (p.Leu432Trp) c.*807T>G (n.*807T>G) | |
12 | g.52807695A>G | CA384985809 | KRT4 | c.1295T>C (p.Leu432Ser) c.*807T>C (n.*807T>C) | |
12 | g.52807695A>T | CA384985811 | KRT4 | c.1295T>A (p.Leu432Ter) c.*807T>A (n.*807T>A) | |
12 | g.52807696A>C | CA384985816 | KRT4 | c.1294T>G (p.Leu432Val) c.*806T>G (n.*806T>G) | |
12 | g.52807696A>G | CA480075637 | KRT4 | c.1294T>C (p.Leu432=) c.*806T>C (n.*806T>C) | gnomAD v3 gnomAD v4 |
12 | g.52807696A>T | CA384985814 | KRT4 | c.1294T>A (p.Leu432Met) c.*806T>A (n.*806T>A) | |
12 | g.52807697G>A | CA6588450 | KRT4 | c.1293C>T (p.Ala431=) c.*805C>T (n.*805C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52807697G>C | CA480075639 | KRT4 | c.1293C>G (p.Ala431=) c.*805C>G (n.*805C>G) | |
12 | g.52807697G= | CA2036689015 | KRT4 | c.1293C= (p.Ala431=) c.*805C= (n.*805C=) | |
12 | g.52807697G>T | CA480075640 | KRT4 | c.1293C>A (p.Ala431=) c.*805C>A (n.*805C>A) | |
12 | g.52807698G>A | CA384985821 | KRT4 | c.1292C>T (p.Ala431Val) c.*804C>T (n.*804C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52807698G>C | CA384985823 | KRT4 | c.1292C>G (p.Ala431Gly) c.*804C>G (n.*804C>G) | |
12 | g.52807698G= | CA2036689016 | KRT4 | c.1292C= (p.Ala431=) c.*804C= (n.*804C=) | |
12 | g.52807698G>T | CA384985825 | KRT4 | c.1292C>A (p.Ala431Asp) c.*804C>A (n.*804C>A) | |
12 | g.52807699C>A | CA384985828 | KRT4 | c.1291G>T (p.Ala431Ser) c.*803G>T (n.*803G>T) | |
12 | g.52807699C>G | CA384985830 | KRT4 | c.1291G>C (p.Ala431Pro) c.*803G>C (n.*803G>C) | |
12 | g.52807699C>T | CA384985832 | KRT4 | c.1291G>A (p.Ala431Thr) c.*803G>A (n.*803G>A) | |
12 | g.52807700C>A | CA480075644 | KRT4 | c.1290G>T (p.Leu430=) c.*802G>T (n.*802G>T) | |
12 | g.52807700C>G | CA480075645 | KRT4 | c.1290G>C (p.Leu430=) c.*802G>C (n.*802G>C) |