| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160425122T>A | CA343287784 | VANGL2 | c.1454T>A (p.Phe485Tyr) c.1310T>A (p.Phe437Tyr) | |
| 1 | g.160425122T>C | CA120084 | VANGL2 | c.1454T>C (p.Phe485Ser) c.1310T>C (p.Phe437Ser) | ClinVar dbSNP |
| 1 | g.160425122T>G | CA343287785 | VANGL2 | c.1454T>G (p.Phe485Cys) c.1310T>G (p.Phe437Cys) | |
| 1 | g.160425122T= | CA1143538416 | VANGL2 | c.1454T= (p.Phe485=) c.1310T= (p.Phe437=) | |
| 1 | g.160425123C>A | CA343287786 | VANGL2 | c.1455C>A (p.Phe485Leu) c.1311C>A (p.Phe437Leu) | |
| 1 | g.160425123C>G | CA343287787 | VANGL2 | c.1455C>G (p.Phe485Leu) c.1311C>G (p.Phe437Leu) | |
| 1 | g.160425123C>T | CA421602460 | VANGL2 | c.1455C>T (p.Phe485=) c.1311C>T (p.Phe437=) | gnomAD v4 |
| 1 | g.160425124T>A | CA343287788 | VANGL2 | c.1456T>A (p.Leu486Met) c.1312T>A (p.Leu438Met) | |
| 1 | g.160425124T>C | CA421602461 | VANGL2 | c.1456T>C (p.Leu486=) c.1312T>C (p.Leu438=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160425124T>G | CA343287789 | VANGL2 | c.1456T>G (p.Leu486Val) c.1312T>G (p.Leu438Val) | |
| 1 | g.160425124T= | CA1202313738 | VANGL2 | c.1456T= (p.Leu486=) c.1312T= (p.Leu438=) | |
| 1 | g.160425125T>A | CA343287790 | VANGL2 | c.1457T>A (p.Leu486Ter) c.1313T>A (p.Leu438Ter) | |
| 1 | g.160425125T>C | CA343287791 | VANGL2 | c.1457T>C (p.Leu486Ser) c.1313T>C (p.Leu438Ser) | |
| 1 | g.160425125T>G | CA343287792 | VANGL2 | c.1457T>G (p.Leu486Trp) c.1313T>G (p.Leu438Trp) | |
| 1 | g.160425126G>A | CA421602465 | VANGL2 | c.1458G>A (p.Leu486=) c.1314G>A (p.Leu438=) | gnomAD v4 |
| 1 | g.160425126G>C | CA343287793 | VANGL2 | c.1458G>C (p.Leu486Phe) c.1314G>C (p.Leu438Phe) | |
| 1 | g.160425126G>T | CA343287794 | VANGL2 | c.1458G>T (p.Leu486Phe) c.1314G>T (p.Leu438Phe) | |
| 1 | g.160425127G>A | CA343287795 | VANGL2 | c.1459G>A (p.Glu487Lys) c.1315G>A (p.Glu439Lys) | |
| 1 | g.160425127G>C | CA343287797 | VANGL2 | c.1459G>C (p.Glu487Gln) c.1315G>C (p.Glu439Gln) | |
| 1 | g.160425127G>T | CA343287796 | VANGL2 | c.1459G>T (p.Glu487Ter) c.1315G>T (p.Glu439Ter) | |
| 1 | g.160425128A>C | CA343287798 | VANGL2 | c.1460A>C (p.Glu487Ala) c.1316A>C (p.Glu439Ala) | |
| 1 | g.160425128A>G | CA343287799 | VANGL2 | c.1460A>G (p.Glu487Gly) c.1316A>G (p.Glu439Gly) | |
| 1 | g.160425128A>T | CA343287800 | VANGL2 | c.1460A>T (p.Glu487Val) c.1316A>T (p.Glu439Val) | |
| 1 | g.160425129G>A | CA421602470 | VANGL2 | c.1461G>A (p.Glu487=) c.1317G>A (p.Glu439=) | |
| 1 | g.160425129G>C | CA343287801 | VANGL2 | c.1461G>C (p.Glu487Asp) c.1317G>C (p.Glu439Asp) | |
| 1 | g.160425129G>T | CA343287802 | VANGL2 | c.1461G>T (p.Glu487Asp) c.1317G>T (p.Glu439Asp) | |
| 1 | g.160425130C>A | CA421602473 | VANGL2 | c.1462C>A (p.Arg488=) c.1318C>A (p.Arg440=) | |
| 1 | g.160425130C= | CA1202313743 | VANGL2 | c.1462C= (p.Arg488=) c.1318C= (p.Arg440=) | |
| 1 | g.160425130C>G | CA343287803 | VANGL2 | c.1462C>G (p.Arg488Gly) c.1318C>G (p.Arg440Gly) | |
| 1 | g.160425130C>T | CA1199669 | VANGL2 | c.1462C>T (p.Arg488Ter) c.1318C>T (p.Arg440Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160425131G>A | CA343287804 | VANGL2 | c.1463G>A (p.Arg488Gln) c.1319G>A (p.Arg440Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160425131G>C | CA343287805 | VANGL2 | c.1463G>C (p.Arg488Pro) c.1319G>C (p.Arg440Pro) | |
| 1 | g.160425131G= | CA1202313745 | VANGL2 | c.1463G= (p.Arg488=) c.1319G= (p.Arg440=) | |
| 1 | g.160425131G>T | CA343287806 | VANGL2 | c.1463G>T (p.Arg488Leu) c.1319G>T (p.Arg440Leu) | dbSNP |
| 1 | g.160425132A>C | CA421602474 | VANGL2 | c.1464A>C (p.Arg488=) c.1320A>C (p.Arg440=) | |
| 1 | g.160425132A>G | CA421602475 | VANGL2 | c.1464A>G (p.Arg488=) c.1320A>G (p.Arg440=) | gnomAD v4 |
| 1 | g.160425132A>T | CA421602477 | VANGL2 | c.1464A>T (p.Arg488=) c.1320A>T (p.Arg440=) | |
| 1 | g.160425133T>A | CA343287807 | VANGL2 | c.1465T>A (p.Tyr489Asn) c.1321T>A (p.Tyr441Asn) | |
| 1 | g.160425133T>C | CA343287808 | VANGL2 | c.1465T>C (p.Tyr489His) c.1321T>C (p.Tyr441His) | |
| 1 | g.160425133T>G | CA343287809 | VANGL2 | c.1465T>G (p.Tyr489Asp) c.1321T>G (p.Tyr441Asp) | gnomAD v4 |
| 1 | g.160425134A= | CA1202313749 | VANGL2 | c.1466A= (p.Tyr489=) c.1322A= (p.Tyr441=) | |
| 1 | g.160425134A>C | CA343287810 | VANGL2 | c.1466A>C (p.Tyr489Ser) c.1322A>C (p.Tyr441Ser) | dbSNP |
| 1 | g.160425134A>G | CA343287812 | VANGL2 | c.1466A>G (p.Tyr489Cys) c.1322A>G (p.Tyr441Cys) | |
| 1 | g.160425134A>T | CA343287811 | VANGL2 | c.1466A>T (p.Tyr489Phe) c.1322A>T (p.Tyr441Phe) | |
| 1 | g.160425135C>A | CA343287813 | VANGL2 | c.1467C>A (p.Tyr489Ter) c.1323C>A (p.Tyr441Ter) | |
| 1 | g.160425135C= | CA1202313752 | VANGL2 | c.1467C= (p.Tyr489=) c.1323C= (p.Tyr441=) | |
| 1 | g.160425135C>G | CA343287814 | VANGL2 | c.1467C>G (p.Tyr489Ter) c.1323C>G (p.Tyr441Ter) | |
| 1 | g.160425135C>T | CA1199670 | VANGL2 | c.1467C>T (p.Tyr489=) c.1323C>T (p.Tyr441=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160425136T>A | CA343287815 | VANGL2 | c.1468T>A (p.Leu490Met) c.1324T>A (p.Leu442Met) | |
| 1 | g.160425136T>C | CA421602481 | VANGL2 | c.1468T>C (p.Leu490=) c.1324T>C (p.Leu442=) |