Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119402243_119402276dup | CA2667109879 | ARHGAP31 | c.1491_1524dup (p.Cys509ArgfsTer?) c.1398_1431dup (p.Cys478ArgfsTer?) c.1431_1464dup (p.Cys489ArgfsTer?) c.999_1032dup (p.Cys345ArgfsTer?) | gnomAD v4 |
3 | g.119402270C>A | CA354039841 | ARHGAP31 | c.1518C>A (p.Ser506Arg) c.1425C>A (p.Ser475Arg) c.1458C>A (p.Ser486Arg) c.1026C>A (p.Ser342Arg) | |
3 | g.119402270C= | CA1396543742 | ARHGAP31 | c.1518C= (p.Ser506=) c.1425C= (p.Ser475=) c.1458C= (p.Ser486=) c.1026C= (p.Ser342=) | |
3 | g.119402270C>G | CA354039843 | ARHGAP31 | c.1518C>G (p.Ser506Arg) c.1425C>G (p.Ser475Arg) c.1458C>G (p.Ser486Arg) c.1026C>G (p.Ser342Arg) | |
3 | g.119402270C>T | CA435411316 | ARHGAP31 | c.1518C>T (p.Ser506=) c.1425C>T (p.Ser475=) c.1458C>T (p.Ser486=) c.1026C>T (p.Ser342=) | gnomAD v4 |
3 | g.119402270_119402271insGTGGGCGGCGTGCCGGTGCGGCTGGAAA | CA1396543743 | ARHGAP31 | c.1518_1519insGTGGGCGGCGTGCCGGTGCGGCTGGAAA (p.Thr507ValfsTer?) c.1425_1426insGTGGGCGGCGTGCCGGTGCGGCTGGAAA (p.Thr476ValfsTer?) c.1458_1459insGTGGGCGGCGTGCCGGTGCGGCTGGAAA (p.Thr487ValfsTer?) c.1026_1027insGTGGGCGGCGTGCCGGTGCGGCTGGAAA (p.Thr343ValfsTer?) | dbSNP |
3 | g.119402271A>C | CA354039845 | ARHGAP31 | c.1519A>C (p.Thr507Pro) c.1426A>C (p.Thr476Pro) c.1459A>C (p.Thr487Pro) c.1027A>C (p.Thr343Pro) | |
3 | g.119402271A>G | CA354039846 | ARHGAP31 | c.1519A>G (p.Thr507Ala) c.1426A>G (p.Thr476Ala) c.1459A>G (p.Thr487Ala) c.1027A>G (p.Thr343Ala) | gnomAD v4 |
3 | g.119402271A>T | CA354039848 | ARHGAP31 | c.1519A>T (p.Thr507Ser) c.1426A>T (p.Thr476Ser) c.1459A>T (p.Thr487Ser) c.1027A>T (p.Thr343Ser) | |
3 | g.119402272C>A | CA354039850 | ARHGAP31 | c.1520C>A (p.Thr507Lys) c.1427C>A (p.Thr476Lys) c.1460C>A (p.Thr487Lys) c.1028C>A (p.Thr343Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119402272C= | CA1396543744 | ARHGAP31 | c.1520C= (p.Thr507=) c.1427C= (p.Thr476=) c.1460C= (p.Thr487=) c.1028C= (p.Thr343=) | |
3 | g.119402272C>G | CA354039852 | ARHGAP31 | c.1520C>G (p.Thr507Arg) c.1427C>G (p.Thr476Arg) c.1460C>G (p.Thr487Arg) c.1028C>G (p.Thr343Arg) | |
3 | g.119402272C>T | CA354039854 | ARHGAP31 | c.1520C>T (p.Thr507Met) c.1427C>T (p.Thr476Met) c.1460C>T (p.Thr487Met) c.1028C>T (p.Thr343Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.119402272_119402273insCGGCTGATCGGCGTGACCGATGATCGCG | CA1396543746 | ARHGAP31 | c.1520_1521insCGGCTGATCGGCGTGACCGATGATCGCG (p.Pro508GlyfsTer2) c.1427_1428insCGGCTGATCGGCGTGACCGATGATCGCG (p.Pro477GlyfsTer2) c.1460_1461insCGGCTGATCGGCGTGACCGATGATCGCG (p.Pro488GlyfsTer2) c.1028_1029insCGGCTGATCGGCGTGACCGATGATCGCG (p.Pro344GlyfsTer2) | dbSNP |
3 | g.119402273G>A | CA435411317 | ARHGAP31 | c.1521G>A (p.Thr507=) c.1428G>A (p.Thr476=) c.1461G>A (p.Thr487=) c.1029G>A (p.Thr343=) | dbSNP gnomAD v4 COSMIC |
3 | g.119402273G>C | CA435411318 | ARHGAP31 | c.1521G>C (p.Thr507=) c.1428G>C (p.Thr476=) c.1461G>C (p.Thr487=) c.1029G>C (p.Thr343=) | |
3 | g.119402273G= | CA1396543745 | ARHGAP31 | c.1521G= (p.Thr507=) c.1428G= (p.Thr476=) c.1461G= (p.Thr487=) c.1029G= (p.Thr343=) | |
3 | g.119402273G>T | CA435411319 | ARHGAP31 | c.1521G>T (p.Thr507=) c.1428G>T (p.Thr476=) c.1461G>T (p.Thr487=) c.1029G>T (p.Thr343=) | |
3 | g.119402274C>A | CA354039856 | ARHGAP31 | c.1522C>A (p.Pro508Thr) c.1429C>A (p.Pro477Thr) c.1462C>A (p.Pro488Thr) c.1030C>A (p.Pro344Thr) | |
3 | g.119402274C>G | CA354039858 | ARHGAP31 | c.1522C>G (p.Pro508Ala) c.1429C>G (p.Pro477Ala) c.1462C>G (p.Pro488Ala) c.1030C>G (p.Pro344Ala) | |
3 | g.119402274C>T | CA354039860 | ARHGAP31 | c.1522C>T (p.Pro508Ser) c.1429C>T (p.Pro477Ser) c.1462C>T (p.Pro488Ser) c.1030C>T (p.Pro344Ser) | |
3 | g.119402275C>A | CA2553832 | ARHGAP31 | c.1523C>A (p.Pro508Gln) c.1430C>A (p.Pro477Gln) c.1463C>A (p.Pro488Gln) c.1031C>A (p.Pro344Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119402275C= | CA1396543747 | ARHGAP31 | c.1523C= (p.Pro508=) c.1430C= (p.Pro477=) c.1463C= (p.Pro488=) c.1031C= (p.Pro344=) | |
3 | g.119402275C>G | CA354039862 | ARHGAP31 | c.1523C>G (p.Pro508Arg) c.1430C>G (p.Pro477Arg) c.1463C>G (p.Pro488Arg) c.1031C>G (p.Pro344Arg) | dbSNP |
3 | g.119402275C>T | CA354039865 | ARHGAP31 | c.1523C>T (p.Pro508Leu) c.1430C>T (p.Pro477Leu) c.1463C>T (p.Pro488Leu) c.1031C>T (p.Pro344Leu) | gnomAD v4 |
3 | g.119402276G>A | CA2553833 | ARHGAP31 | c.1524G>A (p.Pro508=) c.1431G>A (p.Pro477=) c.1464G>A (p.Pro488=) c.1032G>A (p.Pro344=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119402276G>C | CA435411321 | ARHGAP31 | c.1524G>C (p.Pro508=) c.1431G>C (p.Pro477=) c.1464G>C (p.Pro488=) c.1032G>C (p.Pro344=) | |
3 | g.119402276G= | CA1396543748 | ARHGAP31 | c.1524G= (p.Pro508=) c.1431G= (p.Pro477=) c.1464G= (p.Pro488=) c.1032G= (p.Pro344=) | |
3 | g.119402276G>T | CA435411322 | ARHGAP31 | c.1524G>T (p.Pro508=) c.1431G>T (p.Pro477=) c.1464G>T (p.Pro488=) c.1032G>T (p.Pro344=) | |
3 | g.119402277T>A | CA354039868 | ARHGAP31 | c.1525T>A (p.Cys509Ser) c.1432T>A (p.Cys478Ser) c.1465T>A (p.Cys489Ser) c.1033T>A (p.Cys345Ser) | |
3 | g.119402277T>C | CA81689787 | ARHGAP31 | c.1525T>C (p.Cys509Arg) c.1432T>C (p.Cys478Arg) c.1465T>C (p.Cys489Arg) c.1033T>C (p.Cys345Arg) | dbSNP |
3 | g.119402277T>G | CA354039866 | ARHGAP31 | c.1525T>G (p.Cys509Gly) c.1432T>G (p.Cys478Gly) c.1465T>G (p.Cys489Gly) c.1033T>G (p.Cys345Gly) | |
3 | g.119402277T= | CA1396543749 | ARHGAP31 | c.1525T= (p.Cys509=) c.1432T= (p.Cys478=) c.1465T= (p.Cys489=) c.1033T= (p.Cys345=) | |
3 | g.119402278G>A | CA354039871 | ARHGAP31 | c.1526G>A (p.Cys509Tyr) c.1433G>A (p.Cys478Tyr) c.1466G>A (p.Cys489Tyr) c.1034G>A (p.Cys345Tyr) | |
3 | g.119402278G>C | CA354039873 | ARHGAP31 | c.1526G>C (p.Cys509Ser) c.1433G>C (p.Cys478Ser) c.1466G>C (p.Cys489Ser) c.1034G>C (p.Cys345Ser) | |
3 | g.119402278G>T | CA354039875 | ARHGAP31 | c.1526G>T (p.Cys509Phe) c.1433G>T (p.Cys478Phe) c.1466G>T (p.Cys489Phe) c.1034G>T (p.Cys345Phe) | |
3 | g.119402279C>A | CA354039877 | ARHGAP31 | c.1527C>A (p.Cys509Ter) c.1434C>A (p.Cys478Ter) c.1467C>A (p.Cys489Ter) c.1035C>A (p.Cys345Ter) | gnomAD v4 |
3 | g.119402279C= | CA1396543750 | ARHGAP31 | c.1527C= (p.Cys509=) c.1434C= (p.Cys478=) c.1467C= (p.Cys489=) c.1035C= (p.Cys345=) | |
3 | g.119402279C>G | CA354039878 | ARHGAP31 | c.1527C>G (p.Cys509Trp) c.1434C>G (p.Cys478Trp) c.1467C>G (p.Cys489Trp) c.1035C>G (p.Cys345Trp) | |
3 | g.119402279C>T | CA435411324 | ARHGAP31 | c.1527C>T (p.Cys509=) c.1434C>T (p.Cys478=) c.1467C>T (p.Cys489=) c.1035C>T (p.Cys345=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119402280A= | CA1396543751 | ARHGAP31 | c.1528A= (p.Arg510=) c.1435A= (p.Arg479=) c.1468A= (p.Arg490=) c.1036A= (p.Arg346=) | |
3 | g.119402280A>C | CA2553834 | ARHGAP31 | c.1528A>C (p.Arg510=) c.1435A>C (p.Arg479=) c.1468A>C (p.Arg490=) c.1036A>C (p.Arg346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119402280A>G | CA354039880 | ARHGAP31 | c.1528A>G (p.Arg510Gly) c.1435A>G (p.Arg479Gly) c.1468A>G (p.Arg490Gly) c.1036A>G (p.Arg346Gly) | dbSNP gnomAD v4 |
3 | g.119402280A>T | CA354039882 | ARHGAP31 | c.1528A>T (p.Arg510Ter) c.1435A>T (p.Arg479Ter) c.1468A>T (p.Arg490Ter) c.1036A>T (p.Arg346Ter) | |
3 | g.119402281G>A | CA354039884 | ARHGAP31 | c.1529G>A (p.Arg510Lys) c.1436G>A (p.Arg479Lys) c.1469G>A (p.Arg490Lys) c.1037G>A (p.Arg346Lys) | |
3 | g.119402281G>C | CA354039886 | ARHGAP31 | c.1529G>C (p.Arg510Thr) c.1436G>C (p.Arg479Thr) c.1469G>C (p.Arg490Thr) c.1037G>C (p.Arg346Thr) | |
3 | g.119402281G>T | CA354039888 | ARHGAP31 | c.1529G>T (p.Arg510Ile) c.1436G>T (p.Arg479Ile) c.1469G>T (p.Arg490Ile) c.1037G>T (p.Arg346Ile) | |
3 | g.119402282A= | CA1396543752 | ARHGAP31 | c.1530A= (p.Arg510=) c.1437A= (p.Arg479=) c.1470A= (p.Arg490=) c.1038A= (p.Arg346=) | |
3 | g.119402282A>C | CA354039890 | ARHGAP31 | c.1530A>C (p.Arg510Ser) c.1437A>C (p.Arg479Ser) c.1470A>C (p.Arg490Ser) c.1038A>C (p.Arg346Ser) | |
3 | g.119402282A>G | CA435411325 | ARHGAP31 | c.1530A>G (p.Arg510=) c.1437A>G (p.Arg479=) c.1470A>G (p.Arg490=) c.1038A>G (p.Arg346=) | dbSNP |