UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.125317350C>A | CA358116853 | FAT4 | c.939C>A (p.Phe313Leu) c.-55+1373C>A (n.-55+1373C>A) | gnomAD v4 |
| 4 | g.125317350C= | CA1491599589 | FAT4 | c.939C= (p.Phe313=) c.-55+1373C= (n.-55+1373C=) | |
| 4 | g.125317350C>G | CA358116854 | FAT4 | c.939C>G (p.Phe313Leu) c.-55+1373C>G (n.-55+1373C>G) | gnomAD v4 COSMIC COSMIC |
| 4 | g.125317350C>T | CA441366170 | FAT4 | c.939C>T (p.Phe313=) c.-55+1373C>T (n.-55+1373C>T) | dbSNP gnomAD v4 |
| 4 | g.125317351G>A | CA358116856 | FAT4 | c.940G>A (p.Glu314Lys) c.-55+1374G>A (n.-55+1374G>A) | COSMIC COSMIC |
| 4 | g.125317351G>C | CA358116857 | FAT4 | c.940G>C (p.Glu314Gln) c.-55+1374G>C (n.-55+1374G>C) | |
| 4 | g.125317351G>T | CA358116855 | FAT4 | c.940G>T (p.Glu314Ter) c.-55+1374G>T (n.-55+1374G>T) | |
| 4 | g.125317352A>C | CA358116860 | FAT4 | c.941A>C (p.Glu314Ala) c.-55+1375A>C (n.-55+1375A>C) | |
| 4 | g.125317352A>G | CA358116858 | FAT4 | c.941A>G (p.Glu314Gly) c.-55+1375A>G (n.-55+1375A>G) | |
| 4 | g.125317352A>T | CA358116859 | FAT4 | c.941A>T (p.Glu314Val) c.-55+1375A>T (n.-55+1375A>T) | |
| 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) | |
| 4 | g.125317365A>T | CA358116883 | FAT4 | c.954A>T (p.Gln318His) c.-55+1388A>T (n.-55+1388A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317366T>A | CA358116885 | FAT4 | c.955T>A (p.Tyr319Asn) c.-55+1389T>A (n.-55+1389T>A) | |
| 4 | g.125317366T>C | CA358116887 | FAT4 | c.955T>C (p.Tyr319His) c.-55+1389T>C (n.-55+1389T>C) | |
| 4 | g.125317366T>G | CA358116886 | FAT4 | c.955T>G (p.Tyr319Asp) c.-55+1389T>G (n.-55+1389T>G) | |
| 4 | g.125317367A>C | CA358116888 | FAT4 | c.956A>C (p.Tyr319Ser) c.-55+1390A>C (n.-55+1390A>C) | |
| 4 | g.125317367A>G | CA358116889 | FAT4 | c.956A>G (p.Tyr319Cys) c.-55+1390A>G (n.-55+1390A>G) | |
| 4 | g.125317367A>T | CA358116890 | FAT4 | c.956A>T (p.Tyr319Phe) c.-55+1390A>T (n.-55+1390A>T) | |
| 4 | g.125317368C>A | CA358116891 | FAT4 | c.957C>A (p.Tyr319Ter) c.-55+1391C>A (n.-55+1391C>A) | |
| 4 | g.125317368C= | CA1491599649 | FAT4 | c.957C= (p.Tyr319=) c.-55+1391C= (n.-55+1391C=) | |
| 4 | g.125317368C>G | CA358116892 | FAT4 | c.957C>G (p.Tyr319Ter) c.-55+1391C>G (n.-55+1391C>G) | |
| 4 | g.125317368C>T | CA441366211 | FAT4 | c.957C>T (p.Tyr319=) c.-55+1391C>T (n.-55+1391C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317369T>A | CA358116893 | FAT4 | c.958T>A (p.Ser320Thr) c.-55+1392T>A (n.-55+1392T>A) | |
| 4 | g.125317369T>C | CA358116894 | FAT4 | c.958T>C (p.Ser320Pro) c.-55+1392T>C (n.-55+1392T>C) | |
| 4 | g.125317369T>G | CA358116895 | FAT4 | c.958T>G (p.Ser320Ala) c.-55+1392T>G (n.-55+1392T>G) | |
| 4 | g.125317370C>A | CA358116896 | FAT4 | c.959C>A (p.Ser320Ter) c.-55+1393C>A (n.-55+1393C>A) | |
| 4 | g.125317370C>G | CA358116897 | FAT4 | c.959C>G (p.Ser320Trp) c.-55+1393C>G (n.-55+1393C>G) | |
| 4 | g.125317370C>T | CA358116898 | FAT4 | c.959C>T (p.Ser320Leu) c.-55+1393C>T (n.-55+1393C>T) | gnomAD v4 |
| 4 | g.125317371G>A | CA16604687 | FAT4 | c.960G>A (p.Ser320=) c.-55+1394G>A (n.-55+1394G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317371G>C | CA441366217 | FAT4 | c.960G>C (p.Ser320=) c.-55+1394G>C (n.-55+1394G>C) | |
| 4 | g.125317371G= | CA1491599657 | FAT4 | c.960G= (p.Ser320=) c.-55+1394G= (n.-55+1394G=) | |
| 4 | g.125317371G>T | CA441366216 | FAT4 | c.960G>T (p.Ser320=) c.-55+1394G>T (n.-55+1394G>T) | |
| 4 | g.125317372C>A | CA358116901 | FAT4 | c.961C>A (p.Leu321Ile) c.-55+1395C>A (n.-55+1395C>A) | |
| 4 | g.125317372C>G | CA358116900 | FAT4 | c.961C>G (p.Leu321Val) c.-55+1395C>G (n.-55+1395C>G) | |
| 4 | g.125317372C>T | CA358116899 | FAT4 | c.961C>T (p.Leu321Phe) c.-55+1395C>T (n.-55+1395C>T) | gnomAD v4 |
| 4 | g.125317373T>A | CA358116902 | FAT4 | c.962T>A (p.Leu321His) c.-55+1396T>A (n.-55+1396T>A) | |
| 4 | g.125317373T>C | CA358116903 | FAT4 | c.962T>C (p.Leu321Pro) c.-55+1396T>C (n.-55+1396T>C) | |
| 4 | g.125317373T>G | CA358116904 | FAT4 | c.962T>G (p.Leu321Arg) c.-55+1396T>G (n.-55+1396T>G) | |
| 4 | g.125317374T>A | CA441366220 | FAT4 | c.963T>A (p.Leu321=) c.-55+1397T>A (n.-55+1397T>A) | |
| 4 | g.125317374T>C | CA441366221 | FAT4 | c.963T>C (p.Leu321=) c.-55+1397T>C (n.-55+1397T>C) | |
| 4 | g.125317374T>G | CA441366222 | FAT4 | c.963T>G (p.Leu321=) c.-55+1397T>G (n.-55+1397T>G) | |
| 4 | g.125317375A>C | CA358116905 | FAT4 | c.964A>C (p.Thr322Pro) c.-55+1398A>C (n.-55+1398A>C) | |
| 4 | g.125317375A>G | CA358116906 | FAT4 | c.964A>G (p.Thr322Ala) c.-55+1398A>G (n.-55+1398A>G) | |
| 4 | g.125317375A>T | CA358116907 | FAT4 | c.964A>T (p.Thr322Ser) c.-55+1398A>T (n.-55+1398A>T) | |
| 4 | g.125317376C>A | CA358116908 | FAT4 | c.965C>A (p.Thr322Lys) c.-55+1399C>A (n.-55+1399C>A) | dbSNP gnomAD v4 |
| 4 | g.125317376C= | CA1491599671 | FAT4 | c.965C= (p.Thr322=) c.-55+1399C= (n.-55+1399C=) | |
| 4 | g.125317376C>G | CA358116909 | FAT4 | c.965C>G (p.Thr322Arg) c.-55+1399C>G (n.-55+1399C>G) | |
| 4 | g.125317376C>T | CA358116910 | FAT4 | c.965C>T (p.Thr322Met) c.-55+1399C>T (n.-55+1399C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317377G>A | CA3071897 | FAT4 | c.966G>A (p.Thr322=) c.-55+1400G>A (n.-55+1400G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.125317377G>C | CA441366228 | FAT4 | c.966G>C (p.Thr322=) c.-55+1400G>C (n.-55+1400G>C) | gnomAD v4 |
| 4 | g.125317377G= | CA1491599679 | FAT4 | c.966G= (p.Thr322=) c.-55+1400G= (n.-55+1400G=) | |
| 4 | g.125317377G>T | CA441366229 | FAT4 | c.966G>T (p.Thr322=) c.-55+1400G>T (n.-55+1400G>T) | ClinVar gnomAD v4 |
| 4 | g.125317378G>A | CA358116911 | FAT4 | c.967G>A (p.Val323Met) c.-55+1401G>A (n.-55+1401G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317378G>C | CA358116912 | FAT4 | c.967G>C (p.Val323Leu) c.-55+1401G>C (n.-55+1401G>C) | |
| 4 | g.125317378G= | CA1491599685 | FAT4 | c.967G= (p.Val323=) c.-55+1401G= (n.-55+1401G=) | |
| 4 | g.125317378G>T | CA358116913 | FAT4 | c.967G>T (p.Val323Leu) c.-55+1401G>T (n.-55+1401G>T) | |
| 4 | g.125317379T>A | CA358116916 | FAT4 | c.968T>A (p.Val323Glu) c.-55+1402T>A (n.-55+1402T>A) | |
| 4 | g.125317379T>C | CA358116915 | FAT4 | c.968T>C (p.Val323Ala) c.-55+1402T>C (n.-55+1402T>C) | |
| 4 | g.125317379T>G | CA358116914 | FAT4 | c.968T>G (p.Val323Gly) c.-55+1402T>G (n.-55+1402T>G) | |
| 4 | g.125317380G>A | CA441366237 | FAT4 | c.969G>A (p.Val323=) c.-55+1403G>A (n.-55+1403G>A) | |
| 4 | g.125317380G>C | CA441366238 | FAT4 | c.969G>C (p.Val323=) c.-55+1403G>C (n.-55+1403G>C) | |
| 4 | g.125317380G>T | CA441366239 | FAT4 | c.969G>T (p.Val323=) c.-55+1403G>T (n.-55+1403G>T) | |
| 4 | g.125317381C>A | CA358116917 | FAT4 | c.970C>A (p.Gln324Lys) c.-55+1404C>A (n.-55+1404C>A) | |
| 4 | g.125317381C>G | CA358116919 | FAT4 | c.970C>G (p.Gln324Glu) c.-55+1404C>G (n.-55+1404C>G) | |
| 4 | g.125317381C>T | CA358116918 | FAT4 | c.970C>T (p.Gln324Ter) c.-55+1404C>T (n.-55+1404C>T) | |
| 4 | g.125317382A>C | CA358116920 | FAT4 | c.971A>C (p.Gln324Pro) c.-55+1405A>C (n.-55+1405A>C) | |
| 4 | g.125317382A>G | CA358116921 | FAT4 | c.971A>G (p.Gln324Arg) c.-55+1405A>G (n.-55+1405A>G) | |
| 4 | g.125317382A>T | CA358116922 | FAT4 | c.971A>T (p.Gln324Leu) c.-55+1405A>T (n.-55+1405A>T) | |
| 4 | g.125317383G>A | CA441366244 | FAT4 | c.972G>A (p.Gln324=) c.-55+1406G>A (n.-55+1406G>A) | gnomAD v4 |
| 4 | g.125317383G>C | CA358116923 | FAT4 | c.972G>C (p.Gln324His) c.-55+1406G>C (n.-55+1406G>C) | |
| 4 | g.125317383G>T | CA358116924 | FAT4 | c.972G>T (p.Gln324His) c.-55+1406G>T (n.-55+1406G>T) | gnomAD v4 |
| 4 | g.125317384G>A | CA3071898 | FAT4 | c.973G>A (p.Ala325Thr) c.-55+1407G>A (n.-55+1407G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317384G>C | CA358116926 | FAT4 | c.973G>C (p.Ala325Pro) c.-55+1407G>C (n.-55+1407G>C) | |
| 4 | g.125317384G= | CA1491599688 | FAT4 | c.973G= (p.Ala325=) c.-55+1407G= (n.-55+1407G=) | |
| 4 | g.125317384G>T | CA358116925 | FAT4 | c.973G>T (p.Ala325Ser) c.-55+1407G>T (n.-55+1407G>T) | gnomAD v4 |
| 4 | g.125317385C>A | CA358116927 | FAT4 | c.974C>A (p.Ala325Glu) c.-55+1408C>A (n.-55+1408C>A) | |
| 4 | g.125317385C= | CA1491599693 | FAT4 | c.974C= (p.Ala325=) c.-55+1408C= (n.-55+1408C=) | |
| 4 | g.125317385C>G | CA358116928 | FAT4 | c.974C>G (p.Ala325Gly) c.-55+1408C>G (n.-55+1408C>G) | |
| 4 | g.125317385C>T | CA358116929 | FAT4 | c.974C>T (p.Ala325Val) c.-55+1408C>T (n.-55+1408C>T) | dbSNP gnomAD v2 |
| 4 | g.125317386G>A | CA441366248 | FAT4 | c.975G>A (p.Ala325=) c.-55+1409G>A (n.-55+1409G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317386G>C | CA441366249 | FAT4 | c.975G>C (p.Ala325=) c.-55+1409G>C (n.-55+1409G>C) | |
| 4 | g.125317386G= | CA1491599695 | FAT4 | c.975G= (p.Ala325=) c.-55+1409G= (n.-55+1409G=) | |
| 4 | g.125317386G>T | CA441366250 | FAT4 | c.975G>T (p.Ala325=) c.-55+1409G>T (n.-55+1409G>T) | |
| 4 | g.125317387A>C | CA358116930 | FAT4 | c.976A>C (p.Met326Leu) c.-55+1410A>C (n.-55+1410A>C) | |
| 4 | g.125317387A>G | CA358116931 | FAT4 | c.976A>G (p.Met326Val) c.-55+1410A>G (n.-55+1410A>G) | COSMIC COSMIC |
| 4 | g.125317387A>T | CA358116932 | FAT4 | c.976A>T (p.Met326Leu) c.-55+1410A>T (n.-55+1410A>T) | gnomAD v4 |
| 4 | g.125317388T>A | CA358116933 | FAT4 | c.977T>A (p.Met326Lys) c.-55+1411T>A (n.-55+1411T>A) | |
| 4 | g.125317388T>C | CA358116935 | FAT4 | c.977T>C (p.Met326Thr) c.-55+1411T>C (n.-55+1411T>C) | gnomAD v4 |
| 4 | g.125317388T>G | CA358116934 | FAT4 | c.977T>G (p.Met326Arg) c.-55+1411T>G (n.-55+1411T>G) | gnomAD v4 |
| 4 | g.125317389G>A | CA358116936 | FAT4 | c.978G>A (p.Met326Ile) c.-55+1412G>A (n.-55+1412G>A) | |
| 4 | g.125317389G>C | CA358116937 | FAT4 | c.978G>C (p.Met326Ile) c.-55+1412G>C (n.-55+1412G>C) | |
| 4 | g.125317389G>T | CA358116938 | FAT4 | c.978G>T (p.Met326Ile) c.-55+1412G>T (n.-55+1412G>T) | |
| 4 | g.125317390G>A | CA358116939 | FAT4 | c.979G>A (p.Asp327Asn) c.-55+1413G>A (n.-55+1413G>A) | gnomAD v4 |
| 4 | g.125317390G>C | CA358116940 | FAT4 | c.979G>C (p.Asp327His) c.-55+1413G>C (n.-55+1413G>C) | |
| 4 | g.125317390G>T | CA358116941 | FAT4 | c.979G>T (p.Asp327Tyr) c.-55+1413G>T (n.-55+1413G>T) | |
| 4 | g.125317391del | CA2695198529 | FAT4 | c.980del (p.Asp327AlafsTer14) c.-55+1414del (n.-55+1414del) | ClinVar |
| 4 | g.125317391A>C | CA358116942 | FAT4 | c.980A>C (p.Asp327Ala) c.-55+1414A>C (n.-55+1414A>C) | |
| 4 | g.125317391A>G | CA358116943 | FAT4 | c.980A>G (p.Asp327Gly) c.-55+1414A>G (n.-55+1414A>G) | |
| 4 | g.125317391A>T | CA358116944 | FAT4 | c.980A>T (p.Asp327Val) c.-55+1414A>T (n.-55+1414A>T) | |
| 4 | g.125317392C>A | CA358116945 | FAT4 | c.981C>A (p.Asp327Glu) c.-55+1415C>A (n.-55+1415C>A) | |
| 4 | g.125317392C>G | CA358116946 | FAT4 | c.981C>G (p.Asp327Glu) c.-55+1415C>G (n.-55+1415C>G) | gnomAD v4 |
| 4 | g.125317392C>T | CA441366257 | FAT4 | c.981C>T (p.Asp327=) c.-55+1415C>T (n.-55+1415C>T) | |
| 4 | g.125317393A= | CA1491599698 | FAT4 | c.982A= (p.Arg328=) c.-55+1416A= (n.-55+1416A=) | |
| 4 | g.125317393A>C | CA441366261 | FAT4 | c.982A>C (p.Arg328=) c.-55+1416A>C (n.-55+1416A>C) | |
| 4 | g.125317393A>G | CA358116947 | FAT4 | c.982A>G (p.Arg328Gly) c.-55+1416A>G (n.-55+1416A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317393A>T | CA358116948 | FAT4 | c.982A>T (p.Arg328Ter) c.-55+1416A>T (n.-55+1416A>T) | |
| 4 | g.125317394G>A | CA3071899 | FAT4 | c.983G>A (p.Arg328Lys) c.-55+1417G>A (n.-55+1417G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317394G>C | CA358116949 | FAT4 | c.983G>C (p.Arg328Thr) c.-55+1417G>C (n.-55+1417G>C) | |
| 4 | g.125317394G= | CA1491599711 | FAT4 | c.983G= (p.Arg328=) c.-55+1417G= (n.-55+1417G=) | |
| 4 | g.125317394G>T | CA358116950 | FAT4 | c.983G>T (p.Arg328Ile) c.-55+1417G>T (n.-55+1417G>T) | |
| 4 | g.125317395A>C | CA358116951 | FAT4 | c.984A>C (p.Arg328Ser) c.-55+1418A>C (n.-55+1418A>C) | |
| 4 | g.125317395A>G | CA441366265 | FAT4 | c.984A>G (p.Arg328=) c.-55+1418A>G (n.-55+1418A>G) | |
| 4 | g.125317395A>T | CA358116952 | FAT4 | c.984A>T (p.Arg328Ser) c.-55+1418A>T (n.-55+1418A>T) | |
| 4 | g.125317396G>A | CA358116953 | FAT4 | c.985G>A (p.Gly329Ser) c.-55+1419G>A (n.-55+1419G>A) | |
| 4 | g.125317396G>C | CA358116954 | FAT4 | c.985G>C (p.Gly329Arg) c.-55+1419G>C (n.-55+1419G>C) | |
| 4 | g.125317396G>T | CA358116955 | FAT4 | c.985G>T (p.Gly329Cys) c.-55+1419G>T (n.-55+1419G>T) | |
| 4 | g.125317397G>A | CA358116956 | FAT4 | c.986G>A (p.Gly329Asp) c.-55+1420G>A (n.-55+1420G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317397G>C | CA358116957 | FAT4 | c.986G>C (p.Gly329Ala) c.-55+1420G>C (n.-55+1420G>C) | |
| 4 | g.125317397G= | CA1491599713 | FAT4 | c.986G= (p.Gly329=) c.-55+1420G= (n.-55+1420G=) | |
| 4 | g.125317397G>T | CA358116958 | FAT4 | c.986G>T (p.Gly329Val) c.-55+1420G>T (n.-55+1420G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317398C>A | CA441366272 | FAT4 | c.987C>A (p.Gly329=) c.-55+1421C>A (n.-55+1421C>A) | |
| 4 | g.125317398C= | CA1491599719 | FAT4 | c.987C= (p.Gly329=) c.-55+1421C= (n.-55+1421C=) | |
| 4 | g.125317398C>G | CA104861721 | FAT4 | c.987C>G (p.Gly329=) c.-55+1421C>G (n.-55+1421C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317398C>T | CA3071900 | FAT4 | c.987C>T (p.Gly329=) c.-55+1421C>T (n.-55+1421C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317399G>A | CA358116960 | FAT4 | c.988G>A (p.Val330Met) c.-55+1422G>A (n.-55+1422G>A) | dbSNP |
| 4 | g.125317399G>C | CA358116961 | FAT4 | c.988G>C (p.Val330Leu) c.-55+1422G>C (n.-55+1422G>C) | |
| 4 | g.125317399G= | CA1491599725 | FAT4 | c.988G= (p.Val330=) c.-55+1422G= (n.-55+1422G=) | |
| 4 | g.125317399G>T | CA358116959 | FAT4 | c.988G>T (p.Val330Leu) c.-55+1422G>T (n.-55+1422G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317400T>A | CA358116962 | FAT4 | c.989T>A (p.Val330Glu) c.-55+1423T>A (n.-55+1423T>A) | |
| 4 | g.125317400T>C | CA358116963 | FAT4 | c.989T>C (p.Val330Ala) c.-55+1423T>C (n.-55+1423T>C) | gnomAD v4 |
| 4 | g.125317400T>G | CA358116964 | FAT4 | c.989T>G (p.Val330Gly) c.-55+1423T>G (n.-55+1423T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317400T= | CA1491599728 | FAT4 | c.989T= (p.Val330=) c.-55+1423T= (n.-55+1423T=) | |
| 4 | g.125317401G>A | CA441366276 | FAT4 | c.990G>A (p.Val330=) c.-55+1424G>A (n.-55+1424G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317401G>C | CA441366277 | FAT4 | c.990G>C (p.Val330=) c.-55+1424G>C (n.-55+1424G>C) | |
| 4 | g.125317401G= | CA1491599733 | FAT4 | c.990G= (p.Val330=) c.-55+1424G= (n.-55+1424G=) | |
| 4 | g.125317401G>T | CA3071901 | FAT4 | c.990G>T (p.Val330=) c.-55+1424G>T (n.-55+1424G>T) | dbSNP ExAC gnomAD v2 |
| 4 | g.125317402C>A | CA358116967 | FAT4 | c.991C>A (p.Pro331Thr) c.-55+1425C>A (n.-55+1425C>A) | gnomAD v4 |
| 4 | g.125317402C>G | CA358116966 | FAT4 | c.991C>G (p.Pro331Ala) c.-55+1425C>G (n.-55+1425C>G) | |
| 4 | g.125317402C>T | CA358116965 | FAT4 | c.991C>T (p.Pro331Ser) c.-55+1425C>T (n.-55+1425C>T) | |
| 4 | g.125317403C>A | CA358116968 | FAT4 | c.992C>A (p.Pro331His) c.-55+1426C>A (n.-55+1426C>A) | |
| 4 | g.125317403C>G | CA358116969 | FAT4 | c.992C>G (p.Pro331Arg) c.-55+1426C>G (n.-55+1426C>G) | |
| 4 | g.125317403C>T | CA358116970 | FAT4 | c.992C>T (p.Pro331Leu) c.-55+1426C>T (n.-55+1426C>T) | ClinVar gnomAD v4 |
| 4 | g.125317404T>A | CA441366279 | FAT4 | c.993T>A (p.Pro331=) c.-55+1427T>A (n.-55+1427T>A) | |
| 4 | g.125317404T>C | CA441366280 | FAT4 | c.993T>C (p.Pro331=) c.-55+1427T>C (n.-55+1427T>C) | dbSNP |
| 4 | g.125317404T>G | CA441366281 | FAT4 | c.993T>G (p.Pro331=) c.-55+1427T>G (n.-55+1427T>G) | |
| 4 | g.125317404T= | CA1491599738 | FAT4 | c.993T= (p.Pro331=) c.-55+1427T= (n.-55+1427T=) | |
| 4 | g.125317405T>A | CA358116971 | FAT4 | c.994T>A (p.Ser332Thr) c.-55+1428T>A (n.-55+1428T>A) | |
| 4 | g.125317405T>C | CA358116972 | FAT4 | c.994T>C (p.Ser332Pro) c.-55+1428T>C (n.-55+1428T>C) | dbSNP |
| 4 | g.125317405T>G | CA358116973 | FAT4 | c.994T>G (p.Ser332Ala) c.-55+1428T>G (n.-55+1428T>G) | |
| 4 | g.125317405T= | CA1491599744 | FAT4 | c.994T= (p.Ser332=) c.-55+1428T= (n.-55+1428T=) | |
| 4 | g.125317406C>A | CA358116974 | FAT4 | c.995C>A (p.Ser332Tyr) c.-55+1429C>A (n.-55+1429C>A) | |
| 4 | g.125317406C= | CA1491599752 | FAT4 | c.995C= (p.Ser332=) c.-55+1429C= (n.-55+1429C=) | |
| 4 | g.125317406C>G | CA358116975 | FAT4 | c.995C>G (p.Ser332Cys) c.-55+1429C>G (n.-55+1429C>G) | |
| 4 | g.125317406C>T | CA3071902 | FAT4 | c.995C>T (p.Ser332Phe) c.-55+1429C>T (n.-55+1429C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317407C>A | CA441366285 | FAT4 | c.996C>A (p.Ser332=) c.-55+1430C>A (n.-55+1430C>A) | ClinVar gnomAD v4 |
| 4 | g.125317407C>G | CA441366286 | FAT4 | c.996C>G (p.Ser332=) c.-55+1430C>G (n.-55+1430C>G) | |
| 4 | g.125317407C>T | CA441366287 | FAT4 | c.996C>T (p.Ser332=) c.-55+1430C>T (n.-55+1430C>T) | COSMIC COSMIC |
| 4 | g.125317408C>A | CA358116976 | FAT4 | c.997C>A (p.Leu333Ile) c.-55+1431C>A (n.-55+1431C>A) | |
| 4 | g.125317408C>G | CA358116978 | FAT4 | c.997C>G (p.Leu333Val) c.-55+1431C>G (n.-55+1431C>G) | |
| 4 | g.125317408C>T | CA358116977 | FAT4 | c.997C>T (p.Leu333Phe) c.-55+1431C>T (n.-55+1431C>T) | gnomAD v4 |
| 4 | g.125317409T>A | CA358116979 | FAT4 | c.998T>A (p.Leu333His) c.-55+1432T>A (n.-55+1432T>A) | |
| 4 | g.125317409T>C | CA358116980 | FAT4 | c.998T>C (p.Leu333Pro) c.-55+1432T>C (n.-55+1432T>C) | gnomAD v4 |
| 4 | g.125317409T>G | CA358116981 | FAT4 | c.998T>G (p.Leu333Arg) c.-55+1432T>G (n.-55+1432T>G) | |
| 4 | g.125317410C>A | CA441366292 | FAT4 | c.999C>A (p.Leu333=) c.-55+1433C>A (n.-55+1433C>A) | |
| 4 | g.125317410C= | CA1491599757 | FAT4 | c.999C= (p.Leu333=) c.-55+1433C= (n.-55+1433C=) | |
| 4 | g.125317410C>G | CA441366293 | FAT4 | c.999C>G (p.Leu333=) c.-55+1433C>G (n.-55+1433C>G) | |
| 4 | g.125317410C>T | CA3071903 | FAT4 | c.999C>T (p.Leu333=) c.-55+1433C>T (n.-55+1433C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317411A= | CA1491599766 | FAT4 | c.1000A= (p.Thr334=) c.-55+1434A= (n.-55+1434A=) | |
| 4 | g.125317411A>C | CA358116982 | FAT4 | c.1000A>C (p.Thr334Pro) c.-55+1434A>C (n.-55+1434A>C) | |
| 4 | g.125317411A>G | CA358116983 | FAT4 | c.1000A>G (p.Thr334Ala) c.-55+1434A>G (n.-55+1434A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317411A>T | CA358116984 | FAT4 | c.1000A>T (p.Thr334Ser) c.-55+1434A>T (n.-55+1434A>T) | |
| 4 | g.125317412C>A | CA358116985 | FAT4 | c.1001C>A (p.Thr334Asn) c.-55+1435C>A (n.-55+1435C>A) | |
| 4 | g.125317412C>G | CA358116986 | FAT4 | c.1001C>G (p.Thr334Ser) c.-55+1435C>G (n.-55+1435C>G) | |
| 4 | g.125317412C>T | CA358116987 | FAT4 | c.1001C>T (p.Thr334Ile) c.-55+1435C>T (n.-55+1435C>T) | gnomAD v4 |
| 4 | g.125317413T>A | CA441366299 | FAT4 | c.1002T>A (p.Thr334=) c.-55+1436T>A (n.-55+1436T>A) | |
| 4 | g.125317413T>C | CA441366301 | FAT4 | c.1002T>C (p.Thr334=) c.-55+1436T>C (n.-55+1436T>C) | |
| 4 | g.125317413T>G | CA441366300 | FAT4 | c.1002T>G (p.Thr334=) c.-55+1436T>G (n.-55+1436T>G) | |
| 4 | g.125317414G>A | CA358116990 | FAT4 | c.1003G>A (p.Gly335Arg) c.-55+1437G>A (n.-55+1437G>A) | |
| 4 | g.125317414G>C | CA358116989 | FAT4 | c.1003G>C (p.Gly335Arg) c.-55+1437G>C (n.-55+1437G>C) | |
| 4 | g.125317414G>T | CA358116988 | FAT4 | c.1003G>T (p.Gly335Trp) c.-55+1437G>T (n.-55+1437G>T) | |
| 4 | g.125317415G>A | CA358116991 | FAT4 | c.1004G>A (p.Gly335Glu) c.-55+1438G>A (n.-55+1438G>A) | |
| 4 | g.125317415G>C | CA358116992 | FAT4 | c.1004G>C (p.Gly335Ala) c.-55+1438G>C (n.-55+1438G>C) | gnomAD v4 |
| 4 | g.125317415G>T | CA358116993 | FAT4 | c.1004G>T (p.Gly335Val) c.-55+1438G>T (n.-55+1438G>T) | gnomAD v4 |
| 4 | g.125317416G>A | CA441366302 | FAT4 | c.1005G>A (p.Gly335=) c.-55+1439G>A (n.-55+1439G>A) | dbSNP |
| 4 | g.125317416G>C | CA441366303 | FAT4 | c.1005G>C (p.Gly335=) c.-55+1439G>C (n.-55+1439G>C) | |
| 4 | g.125317416G= | CA1491599770 | FAT4 | c.1005G= (p.Gly335=) c.-55+1439G= (n.-55+1439G=) | |
| 4 | g.125317416G>T | CA441366304 | FAT4 | c.1005G>T (p.Gly335=) c.-55+1439G>T (n.-55+1439G>T) | |
| 4 | g.125317417C>A | CA358116994 | FAT4 | c.1006C>A (p.Arg336Ser) c.-55+1440C>A (n.-55+1440C>A) | |
| 4 | g.125317417C>G | CA358116995 | FAT4 | c.1006C>G (p.Arg336Gly) c.-55+1440C>G (n.-55+1440C>G) | |
| 4 | g.125317417C>T | CA358116996 | FAT4 | c.1006C>T (p.Arg336Cys) c.-55+1440C>T (n.-55+1440C>T) | gnomAD v4 COSMIC COSMIC |
| 4 | g.125317418G>A | CA358116997 | FAT4 | c.1007G>A (p.Arg336His) c.-55+1441G>A (n.-55+1441G>A) | |
| 4 | g.125317418G>C | CA358116998 | FAT4 | c.1007G>C (p.Arg336Pro) c.-55+1441G>C (n.-55+1441G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317418G= | CA1491599776 | FAT4 | c.1007G= (p.Arg336=) c.-55+1441G= (n.-55+1441G=) | |
| 4 | g.125317418G>T | CA104861736 | FAT4 | c.1007G>T (p.Arg336Leu) c.-55+1441G>T (n.-55+1441G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317419C>A | CA441366307 | FAT4 | c.1008C>A (p.Arg336=) c.-55+1442C>A (n.-55+1442C>A) | |
| 4 | g.125317419C= | CA1491599785 | FAT4 | c.1008C= (p.Arg336=) c.-55+1442C= (n.-55+1442C=) | |
| 4 | g.125317419C>G | CA441366309 | FAT4 | c.1008C>G (p.Arg336=) c.-55+1442C>G (n.-55+1442C>G) | |
| 4 | g.125317419C>T | CA441366310 | FAT4 | c.1008C>T (p.Arg336=) c.-55+1442C>T (n.-55+1442C>T) | dbSNP COSMIC COSMIC |
| 4 | g.125317420G>A | CA358116999 | FAT4 | c.1009G>A (p.Ala337Thr) c.-55+1443G>A (n.-55+1443G>A) | gnomAD v4 |
| 4 | g.125317420G>C | CA358117000 | FAT4 | c.1009G>C (p.Ala337Pro) c.-55+1443G>C (n.-55+1443G>C) | |
| 4 | g.125317420G>T | CA358117001 | FAT4 | c.1009G>T (p.Ala337Ser) c.-55+1443G>T (n.-55+1443G>T) | gnomAD v4 |
| 4 | g.125317421C>A | CA358117003 | FAT4 | c.1010C>A (p.Ala337Asp) c.-55+1444C>A (n.-55+1444C>A) | |
| 4 | g.125317421C>G | CA358117004 | FAT4 | c.1010C>G (p.Ala337Gly) c.-55+1444C>G (n.-55+1444C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317421C>T | CA358117002 | FAT4 | c.1010C>T (p.Ala337Val) c.-55+1444C>T (n.-55+1444C>T) | |
| 4 | g.125317422C>A | CA441366311 | FAT4 | c.1011C>A (p.Ala337=) c.-55+1445C>A (n.-55+1445C>A) | |
| 4 | g.125317422C= | CA1491599792 | FAT4 | c.1011C= (p.Ala337=) c.-55+1445C= (n.-55+1445C=) | |
| 4 | g.125317422C>G | CA441366313 | FAT4 | c.1011C>G (p.Ala337=) c.-55+1445C>G (n.-55+1445C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317422C>T | CA441366315 | FAT4 | c.1011C>T (p.Ala337=) c.-55+1445C>T (n.-55+1445C>T) | COSMIC COSMIC |
| 4 | g.125317423G>A | CA358117005 | FAT4 | c.1012G>A (p.Glu338Lys) c.-55+1446G>A (n.-55+1446G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317423G>C | CA358117006 | FAT4 | c.1012G>C (p.Glu338Gln) c.-55+1446G>C (n.-55+1446G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317423G= | CA1491599801 | FAT4 | c.1012G= (p.Glu338=) c.-55+1446G= (n.-55+1446G=) | |
| 4 | g.125317423G>T | CA358117007 | FAT4 | c.1012G>T (p.Glu338Ter) c.-55+1446G>T (n.-55+1446G>T) | |
| 4 | g.125317424A>C | CA358117008 | FAT4 | c.1013A>C (p.Glu338Ala) c.-55+1447A>C (n.-55+1447A>C) | |
| 4 | g.125317424A>G | CA358117009 | FAT4 | c.1013A>G (p.Glu338Gly) c.-55+1447A>G (n.-55+1447A>G) | |
| 4 | g.125317424A>T | CA358117010 | FAT4 | c.1013A>T (p.Glu338Val) c.-55+1447A>T (n.-55+1447A>T) | |
| 4 | g.125317425G>A | CA441366317 | FAT4 | c.1014G>A (p.Glu338=) c.-55+1448G>A (n.-55+1448G>A) | ClinVar gnomAD v4 COSMIC COSMIC |
| 4 | g.125317425G>C | CA358117011 | FAT4 | c.1014G>C (p.Glu338Asp) c.-55+1448G>C (n.-55+1448G>C) | |
| 4 | g.125317425G>T | CA358117012 | FAT4 | c.1014G>T (p.Glu338Asp) c.-55+1448G>T (n.-55+1448G>T) | ClinVar |
| 4 | g.125317426G>A | CA358117013 | FAT4 | c.1015G>A (p.Ala339Thr) c.-55+1449G>A (n.-55+1449G>A) | |
| 4 | g.125317426G>C | CA358117014 | FAT4 | c.1015G>C (p.Ala339Pro) c.-55+1449G>C (n.-55+1449G>C) | |
| 4 | g.125317426G>T | CA358117015 | FAT4 | c.1015G>T (p.Ala339Ser) c.-55+1449G>T (n.-55+1449G>T) | |
| 4 | g.125317427C>A | CA358117016 | FAT4 | c.1016C>A (p.Ala339Glu) c.-55+1450C>A (n.-55+1450C>A) | |
| 4 | g.125317427C= | CA1491599809 | FAT4 | c.1016C= (p.Ala339=) c.-55+1450C= (n.-55+1450C=) | |
| 4 | g.125317427C>G | CA358117017 | FAT4 | c.1016C>G (p.Ala339Gly) c.-55+1450C>G (n.-55+1450C>G) | |
| 4 | g.125317427C>T | CA358117018 | FAT4 | c.1016C>T (p.Ala339Val) c.-55+1450C>T (n.-55+1450C>T) | dbSNP |
| 4 | g.125317428G>A | CA104861741 | FAT4 | c.1017G>A (p.Ala339=) c.-55+1451G>A (n.-55+1451G>A) | dbSNP gnomAD v4 |
| 4 | g.125317428G>C | CA441366319 | FAT4 | c.1017G>C (p.Ala339=) c.-55+1451G>C (n.-55+1451G>C) | |
| 4 | g.125317428G= | CA1491599816 | FAT4 | c.1017G= (p.Ala339=) c.-55+1451G= (n.-55+1451G=) | |
| 4 | g.125317428G>T | CA3071904 | FAT4 | c.1017G>T (p.Ala339=) c.-55+1451G>T (n.-55+1451G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317429C>A | CA358117019 | FAT4 | c.1018C>A (p.Leu340Met) c.-55+1452C>A (n.-55+1452C>A) | |
| 4 | g.125317429C>G | CA358117020 | FAT4 | c.1018C>G (p.Leu340Val) c.-55+1452C>G (n.-55+1452C>G) | |
| 4 | g.125317429C>T | CA441366321 | FAT4 | c.1018C>T (p.Leu340=) c.-55+1452C>T (n.-55+1452C>T) | |
| 4 | g.125317430T>A | CA358117021 | FAT4 | c.1019T>A (p.Leu340Gln) c.-55+1453T>A (n.-55+1453T>A) | gnomAD v4 |
| 4 | g.125317430T>C | CA358117022 | FAT4 | c.1019T>C (p.Leu340Pro) c.-55+1453T>C (n.-55+1453T>C) | COSMIC COSMIC |
| 4 | g.125317430T>G | CA358117023 | FAT4 | c.1019T>G (p.Leu340Arg) c.-55+1453T>G (n.-55+1453T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317430T= | CA1491599840 | FAT4 | c.1019T= (p.Leu340=) c.-55+1453T= (n.-55+1453T=) | |
| 4 | g.125317431G>A | CA441366323 | FAT4 | c.1020G>A (p.Leu340=) c.-55+1454G>A (n.-55+1454G>A) | gnomAD v3 gnomAD v4 |
| 4 | g.125317431G>C | CA441366324 | FAT4 | c.1020G>C (p.Leu340=) c.-55+1454G>C (n.-55+1454G>C) | |
| 4 | g.125317431G>T | CA441366325 | FAT4 | c.1020G>T (p.Leu340=) c.-55+1454G>T (n.-55+1454G>T) | |
| 4 | g.125317432A>C | CA358117024 | FAT4 | c.1021A>C (p.Ile341Leu) c.-55+1455A>C (n.-55+1455A>C) | |
| 4 | g.125317432A>G | CA358117025 | FAT4 | c.1021A>G (p.Ile341Val) c.-55+1455A>G (n.-55+1455A>G) | |
| 4 | g.125317432A>T | CA358117026 | FAT4 | c.1021A>T (p.Ile341Phe) c.-55+1455A>T (n.-55+1455A>T) | COSMIC COSMIC |
| 4 | g.125317433T>A | CA358117027 | FAT4 | c.1022T>A (p.Ile341Asn) c.-55+1456T>A (n.-55+1456T>A) | |
| 4 | g.125317433T>C | CA358117028 | FAT4 | c.1022T>C (p.Ile341Thr) c.-55+1456T>C (n.-55+1456T>C) | |
| 4 | g.125317433T>G | CA358117029 | FAT4 | c.1022T>G (p.Ile341Ser) c.-55+1456T>G (n.-55+1456T>G) | |
| 4 | g.125317434T>A | CA441366327 | FAT4 | c.1023T>A (p.Ile341=) c.-55+1457T>A (n.-55+1457T>A) | |
| 4 | g.125317434T>C | CA441366328 | FAT4 | c.1023T>C (p.Ile341=) c.-55+1457T>C (n.-55+1457T>C) | |
| 4 | g.125317434T>G | CA358117030 | FAT4 | c.1023T>G (p.Ile341Met) c.-55+1457T>G (n.-55+1457T>G) | |
| 4 | g.125317435C>A | CA358117031 | FAT4 | c.1024C>A (p.Gln342Lys) c.-55+1458C>A (n.-55+1458C>A) | |
| 4 | g.125317435C>G | CA358117033 | FAT4 | c.1024C>G (p.Gln342Glu) c.-55+1458C>G (n.-55+1458C>G) | |
| 4 | g.125317435C>T | CA358117032 | FAT4 | c.1024C>T (p.Gln342Ter) c.-55+1458C>T (n.-55+1458C>T) | |
| 4 | g.125317436A= | CA1491599845 | FAT4 | c.1025A= (p.Gln342=) c.-55+1459A= (n.-55+1459A=) | |
| 4 | g.125317436A>C | CA358117034 | FAT4 | c.1025A>C (p.Gln342Pro) c.-55+1459A>C (n.-55+1459A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317436A>G | CA358117036 | FAT4 | c.1025A>G (p.Gln342Arg) c.-55+1459A>G (n.-55+1459A>G) | |
| 4 | g.125317436A>T | CA358117035 | FAT4 | c.1025A>T (p.Gln342Leu) c.-55+1459A>T (n.-55+1459A>T) | |
| 4 | g.125317437G>A | CA441366330 | FAT4 | c.1026G>A (p.Gln342=) c.-55+1460G>A (n.-55+1460G>A) | |
| 4 | g.125317437G>C | CA358117037 | FAT4 | c.1026G>C (p.Gln342His) c.-55+1460G>C (n.-55+1460G>C) | dbSNP gnomAD v4 |
| 4 | g.125317437G= | CA1491599849 | FAT4 | c.1026G= (p.Gln342=) c.-55+1460G= (n.-55+1460G=) | |
| 4 | g.125317437G>T | CA358117038 | FAT4 | c.1026G>T (p.Gln342His) c.-55+1460G>T (n.-55+1460G>T) | |
| 4 | g.125317438C>A | CA358117039 | FAT4 | c.1027C>A (p.Leu343Met) c.-55+1461C>A (n.-55+1461C>A) | |
| 4 | g.125317438C= | CA1491599852 | FAT4 | c.1027C= (p.Leu343=) c.-55+1461C= (n.-55+1461C=) | |
| 4 | g.125317438C>G | CA358117040 | FAT4 | c.1027C>G (p.Leu343Val) c.-55+1461C>G (n.-55+1461C>G) | |
| 4 | g.125317438C>T | CA104861743 | FAT4 | c.1027C>T (p.Leu343=) c.-55+1461C>T (n.-55+1461C>T) | dbSNP |
| 4 | g.125317439T>A | CA358117041 | FAT4 | c.1028T>A (p.Leu343Gln) c.-55+1462T>A (n.-55+1462T>A) | |
| 4 | g.125317439T>C | CA358117043 | FAT4 | c.1028T>C (p.Leu343Pro) c.-55+1462T>C (n.-55+1462T>C) | dbSNP gnomAD v2 |
| 4 | g.125317439T>G | CA358117042 | FAT4 | c.1028T>G (p.Leu343Arg) c.-55+1462T>G (n.-55+1462T>G) | |
| 4 | g.125317439T= | CA1491599856 | FAT4 | c.1028T= (p.Leu343=) c.-55+1462T= (n.-55+1462T=) | |
| 4 | g.125317440G>A | CA441366331 | FAT4 | c.1029G>A (p.Leu343=) c.-55+1463G>A (n.-55+1463G>A) | |
| 4 | g.125317440G>C | CA441366333 | FAT4 | c.1029G>C (p.Leu343=) c.-55+1463G>C (n.-55+1463G>C) | |
| 4 | g.125317440G= | CA1491599858 | FAT4 | c.1029G= (p.Leu343=) c.-55+1463G= (n.-55+1463G=) | |
| 4 | g.125317440G>T | CA441366332 | FAT4 | c.1029G>T (p.Leu343=) c.-55+1463G>T (n.-55+1463G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317441C>A | CA358117044 | FAT4 | c.1030C>A (p.Leu344Met) c.-55+1464C>A (n.-55+1464C>A) | |
| 4 | g.125317441C>G | CA358117045 | FAT4 | c.1030C>G (p.Leu344Val) c.-55+1464C>G (n.-55+1464C>G) | |
| 4 | g.125317441C>T | CA441366334 | FAT4 | c.1030C>T (p.Leu344=) c.-55+1464C>T (n.-55+1464C>T) | |
| 4 | g.125317442T>A | CA358117046 | FAT4 | c.1031T>A (p.Leu344Gln) c.-55+1465T>A (n.-55+1465T>A) | |
| 4 | g.125317442T>C | CA358117048 | FAT4 | c.1031T>C (p.Leu344Pro) c.-55+1465T>C (n.-55+1465T>C) | gnomAD v4 |
| 4 | g.125317442T>G | CA358117047 | FAT4 | c.1031T>G (p.Leu344Arg) c.-55+1465T>G (n.-55+1465T>G) | |
| 4 | g.125317443G>A | CA3071905 | FAT4 | c.1032G>A (p.Leu344=) c.-55+1466G>A (n.-55+1466G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317443G>C | CA441366335 | FAT4 | c.1032G>C (p.Leu344=) c.-55+1466G>C (n.-55+1466G>C) | gnomAD v4 |
| 4 | g.125317443G= | CA1491599861 | FAT4 | c.1032G= (p.Leu344=) c.-55+1466G= (n.-55+1466G=) | |
| 4 | g.125317443G>T | CA441366336 | FAT4 | c.1032G>T (p.Leu344=) c.-55+1466G>T (n.-55+1466G>T) | dbSNP gnomAD v2 |
| 4 | g.125317444G>A | CA358117049 | FAT4 | c.1033G>A (p.Asp345Asn) c.-55+1467G>A (n.-55+1467G>A) | |
| 4 | g.125317444G>C | CA358117050 | FAT4 | c.1033G>C (p.Asp345His) c.-55+1467G>C (n.-55+1467G>C) | |
| 4 | g.125317444G>T | CA358117051 | FAT4 | c.1033G>T (p.Asp345Tyr) c.-55+1467G>T (n.-55+1467G>T) | |
| 4 | g.125317445A= | CA1491599867 | FAT4 | c.1034A= (p.Asp345=) c.-55+1468A= (n.-55+1468A=) | |
| 4 | g.125317445A>C | CA358117052 | FAT4 | c.1034A>C (p.Asp345Ala) c.-55+1468A>C (n.-55+1468A>C) | |
| 4 | g.125317445A>G | CA358117053 | FAT4 | c.1034A>G (p.Asp345Gly) c.-55+1468A>G (n.-55+1468A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317445A>T | CA358117054 | FAT4 | c.1034A>T (p.Asp345Val) c.-55+1468A>T (n.-55+1468A>T) | |
| 4 | g.125317446del | CA2672009307 | FAT4 | c.1035del (p.Asp345GlufsTer2) c.-55+1469del (n.-55+1469del) | gnomAD v4 |
| 4 | g.125317446C>A | CA358117055 | FAT4 | c.1035C>A (p.Asp345Glu) c.-55+1469C>A (n.-55+1469C>A) | |
| 4 | g.125317446C= | CA1491599873 | FAT4 | c.1035C= (p.Asp345=) c.-55+1469C= (n.-55+1469C=) | |
| 4 | g.125317446C>G | CA358117056 | FAT4 | c.1035C>G (p.Asp345Glu) c.-55+1469C>G (n.-55+1469C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317446C>T | CA441366340 | FAT4 | c.1035C>T (p.Asp345=) c.-55+1469C>T (n.-55+1469C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317447G>A | CA358117057 | FAT4 | c.1036G>A (p.Val346Met) c.-55+1470G>A (n.-55+1470G>A) | dbSNP gnomAD v2 COSMIC COSMIC |
| 4 | g.125317447G>C | CA358117058 | FAT4 | c.1036G>C (p.Val346Leu) c.-55+1470G>C (n.-55+1470G>C) | dbSNP gnomAD v4 |
| 4 | g.125317447G= | CA1491599883 | FAT4 | c.1036G= (p.Val346=) c.-55+1470G= (n.-55+1470G=) | |
| 4 | g.125317447G>T | CA358117059 | FAT4 | c.1036G>T (p.Val346Leu) c.-55+1470G>T (n.-55+1470G>T) | |
| 4 | g.125317448T>A | CA358117062 | FAT4 | c.1037T>A (p.Val346Glu) c.-55+1471T>A (n.-55+1471T>A) | dbSNP |
| 4 | g.125317448T>C | CA358117060 | FAT4 | c.1037T>C (p.Val346Ala) c.-55+1471T>C (n.-55+1471T>C) | |
| 4 | g.125317448T>G | CA358117061 | FAT4 | c.1037T>G (p.Val346Gly) c.-55+1471T>G (n.-55+1471T>G) | |
| 4 | g.125317448T= | CA1491599891 | FAT4 | c.1037T= (p.Val346=) c.-55+1471T= (n.-55+1471T=) | |
| 4 | g.125317449G>A | CA441366342 | FAT4 | c.1038G>A (p.Val346=) c.-55+1472G>A (n.-55+1472G>A) | gnomAD v4 |
| 4 | g.125317449G>C | CA441366343 | FAT4 | c.1038G>C (p.Val346=) c.-55+1472G>C (n.-55+1472G>C) | |
| 4 | g.125317449G>T | CA441366344 | FAT4 | c.1038G>T (p.Val346=) c.-55+1472G>T (n.-55+1472G>T) | |
| 4 | g.125317450A>C | CA358117063 | FAT4 | c.1039A>C (p.Asn347His) c.-55+1473A>C (n.-55+1473A>C) | |
| 4 | g.125317450A>G | CA358117064 | FAT4 | c.1039A>G (p.Asn347Asp) c.-55+1473A>G (n.-55+1473A>G) | |
| 4 | g.125317450A>T | CA358117065 | FAT4 | c.1039A>T (p.Asn347Tyr) c.-55+1473A>T (n.-55+1473A>T) |