Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125317353A>C | CA358116861 | FAT4 | c.942A>C (p.Glu314Asp) c.-55+1376A>C (n.-55+1376A>C) | |
4 | g.125317353A>G | CA441366177 | FAT4 | c.942A>G (p.Glu314=) c.-55+1376A>G (n.-55+1376A>G) | |
4 | g.125317353A>T | CA358116862 | FAT4 | c.942A>T (p.Glu314Asp) c.-55+1376A>T (n.-55+1376A>T) | |
4 | g.125317354G>A | CA358116863 | FAT4 | c.943G>A (p.Ala315Thr) c.-55+1377G>A (n.-55+1377G>A) | |
4 | g.125317354G>C | CA358116864 | FAT4 | c.943G>C (p.Ala315Pro) c.-55+1377G>C (n.-55+1377G>C) | |
4 | g.125317354G>T | CA358116865 | FAT4 | c.943G>T (p.Ala315Ser) c.-55+1377G>T (n.-55+1377G>T) | |
4 | g.125317355C>A | CA358116866 | FAT4 | c.944C>A (p.Ala315Asp) c.-55+1378C>A (n.-55+1378C>A) | gnomAD v4 |
4 | g.125317355C= | CA1491599592 | FAT4 | c.944C= (p.Ala315=) c.-55+1378C= (n.-55+1378C=) | |
4 | g.125317355C>G | CA358116867 | FAT4 | c.944C>G (p.Ala315Gly) c.-55+1378C>G (n.-55+1378C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317355C>T | CA3071894 | FAT4 | c.944C>T (p.Ala315Val) c.-55+1378C>T (n.-55+1378C>T) | dbSNP ExAC gnomAD v2 |
4 | g.125317355_125317356insCCCTGGACT | CA555019257 | FAT4 | c.944_945insCCCTGGACT (p.Ala315_Arg316insProGlyLeu) c.-55+1378_-55+1379insCCCTGGACT (n.-55+1378_-55+1379insCCCTGGACT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317356T>A | CA441366181 | FAT4 | c.945T>A (p.Ala315=) c.-55+1379T>A (n.-55+1379T>A) | |
4 | g.125317356T>C | CA104861695 | FAT4 | c.945T>C (p.Ala315=) c.-55+1379T>C (n.-55+1379T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317356T>G | CA441366183 | FAT4 | c.945T>G (p.Ala315=) c.-55+1379T>G (n.-55+1379T>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317356T= | CA1491599601 | FAT4 | c.945T= (p.Ala315=) c.-55+1379T= (n.-55+1379T=) | |
4 | g.125317356_125317361delinsTCGGCG | CA1491599607 | FAT4 | c.945_950delinsTCGGCG (p.Ala315=) c.-55+1379_-55+1384delinsTCGGCG (n.-55+1379_-55+1384delinsTCGGCG) | |
4 | g.125317357C>A | CA441366185 | FAT4 | c.946C>A (p.Arg316=) c.-55+1380C>A (n.-55+1380C>A) | gnomAD v4 |
4 | g.125317357C>G | CA358116868 | FAT4 | c.946C>G (p.Arg316Gly) c.-55+1380C>G (n.-55+1380C>G) | |
4 | g.125317357C>T | CA358116869 | FAT4 | c.946C>T (p.Arg316Trp) c.-55+1380C>T (n.-55+1380C>T) | |
4 | g.125317358_125317362del | CA1491599611 | FAT4 | c.947_951del (p.Arg316ProfsTer?) c.-55+1381_-55+1385del (n.-55+1381_-55+1385del) | dbSNP |
4 | g.125317358G>A | CA358116872 | FAT4 | c.947G>A (p.Arg316Gln) c.-55+1381G>A (n.-55+1381G>A) | ClinVar gnomAD v4 COSMIC COSMIC |
4 | g.125317358G>C | CA358116870 | FAT4 | c.947G>C (p.Arg316Pro) c.-55+1381G>C (n.-55+1381G>C) | |
4 | g.125317358G= | CA1491599614 | FAT4 | c.947G= (p.Arg316=) c.-55+1381G= (n.-55+1381G=) | |
4 | g.125317358G>T | CA358116871 | FAT4 | c.947G>T (p.Arg316Leu) c.-55+1381G>T (n.-55+1381G>T) | ClinVar gnomAD v4 |
4 | g.125317358_125317359insAA | CA555019258 | FAT4 | c.947_948insAA (p.Arg317SerfsTer25) c.-55+1381_-55+1382insAA (n.-55+1381_-55+1382insAA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317359G>A | CA441366189 | FAT4 | c.948G>A (p.Arg316=) c.-55+1382G>A (n.-55+1382G>A) | |
4 | g.125317359G>C | CA441366191 | FAT4 | c.948G>C (p.Arg316=) c.-55+1382G>C (n.-55+1382G>C) | |
4 | g.125317359G>T | CA441366192 | FAT4 | c.948G>T (p.Arg316=) c.-55+1382G>T (n.-55+1382G>T) | |
4 | g.125317360C>A | CA358116873 | FAT4 | c.949C>A (p.Arg317Ser) c.-55+1383C>A (n.-55+1383C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317360C= | CA1491599622 | FAT4 | c.949C= (p.Arg317=) c.-55+1383C= (n.-55+1383C=) | |
4 | g.125317360C>G | CA358116874 | FAT4 | c.949C>G (p.Arg317Gly) c.-55+1383C>G (n.-55+1383C>G) | |
4 | g.125317360C>T | CA3071895 | FAT4 | c.949C>T (p.Arg317Cys) c.-55+1383C>T (n.-55+1383C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125317361G>A | CA358116875 | FAT4 | c.950G>A (p.Arg317His) c.-55+1384G>A (n.-55+1384G>A) | gnomAD v4 COSMIC COSMIC |
4 | g.125317361G>C | CA358116876 | FAT4 | c.950G>C (p.Arg317Pro) c.-55+1384G>C (n.-55+1384G>C) | |
4 | g.125317361G= | CA1491599627 | FAT4 | c.950G= (p.Arg317=) c.-55+1384G= (n.-55+1384G=) | |
4 | g.125317361G>T | CA358116877 | FAT4 | c.950G>T (p.Arg317Leu) c.-55+1384G>T (n.-55+1384G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317362C>A | CA441366194 | FAT4 | c.951C>A (p.Arg317=) c.-55+1385C>A (n.-55+1385C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317362C= | CA1491599634 | FAT4 | c.951C= (p.Arg317=) c.-55+1385C= (n.-55+1385C=) | |
4 | g.125317362C>G | CA441366195 | FAT4 | c.951C>G (p.Arg317=) c.-55+1385C>G (n.-55+1385C>G) | |
4 | g.125317362C>T | CA441366197 | FAT4 | c.951C>T (p.Arg317=) c.-55+1385C>T (n.-55+1385C>T) | gnomAD v4 |
4 | g.125317363C>A | CA358116878 | FAT4 | c.952C>A (p.Gln318Lys) c.-55+1386C>A (n.-55+1386C>A) | |
4 | g.125317363C= | CA1491599639 | FAT4 | c.952C= (p.Gln318=) c.-55+1386C= (n.-55+1386C=) | |
4 | g.125317363C>G | CA3071896 | FAT4 | c.952C>G (p.Gln318Glu) c.-55+1386C>G (n.-55+1386C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317363C>T | CA358116879 | FAT4 | c.952C>T (p.Gln318Ter) c.-55+1386C>T (n.-55+1386C>T) | ClinVar |
4 | g.125317364A>C | CA358116880 | FAT4 | c.953A>C (p.Gln318Pro) c.-55+1387A>C (n.-55+1387A>C) | |
4 | g.125317364A>G | CA358116881 | FAT4 | c.953A>G (p.Gln318Arg) c.-55+1387A>G (n.-55+1387A>G) | ClinVar |
4 | g.125317364A>T | CA358116882 | FAT4 | c.953A>T (p.Gln318Leu) c.-55+1387A>T (n.-55+1387A>T) | |
4 | g.125317365A= | CA1491599645 | FAT4 | c.954A= (p.Gln318=) c.-55+1388A= (n.-55+1388A=) | |
4 | g.125317365A>C | CA358116884 | FAT4 | c.954A>C (p.Gln318His) c.-55+1388A>C (n.-55+1388A>C) | |
4 | g.125317365A>G | CA441366204 | FAT4 | c.954A>G (p.Gln318=) c.-55+1388A>G (n.-55+1388A>G) |