Genename |
Variants |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247013733T>C,c.5602A>G,p.K1868E |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247013543T>C,c.5792A>G,p.D1931G |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247013516C>T,c.5819G>A,p.R1940H |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247013492C>T,c.5843G>A,p.R1948K |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247013258C>A,c.6077G>T,p.S2026I |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247013024C>T,c.6311G>A,p.R2104H |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247012943G>A,c.6392C>T,p.A2131V |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247007232T>A,c.6419-2A>T,p.2140Acceptor |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247007113T>C,c.6536A>G,p.K2179R |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247006051G>C,c.6580C>G,p.L2194V |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247004295G>T,c.6641C>A,p.T2214K |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241817516A>G,c.1020A>G,p.I340M |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241816990G>A,c.883G>A,p.A295T |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241816972C>T,c.865C>T,p.R289C |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241815414C>T,c.839C>T,p.A280V |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241815411T>C,c.836T>C,p.I279T |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241815371G>A,c.796G>A,p.V266I |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241814588C>T,c.743C>T,p.A248V |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241814546A>G,c.701A>G,p.K234R |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241813413C>T,c.614C>T,p.S205L |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241812461G>A,c.590G>A,p.R197Q |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241812442_241812443insC,c.571_572insC,p.191fs |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241812439G>A,c.568G>A,p.G190R |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241812428C>T,c.557C>T,p.A186V |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241810087G>C,c.385G>C,p.D129H |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241810066C>T,c.364C>T,p.R122X |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241808774G>A,c.353G>A,p.R118H |
AGXT(NM_000030,alanine-glyoxylate aminotransferase,392aa) |
g.2:241808767G>A,c.346G>A,p.G116R |