| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51139068G>A | CA16042991 | SALL1 | c.3154C>T (p.Gln1052Ter) c.2863C>T (p.Gln955Ter) c.77-1516C>T (n.77-1516C>T) | ClinVar dbSNP COSMIC |
| 16 | g.51139068G>C | CA395881681 | SALL1 | c.3154C>G (p.Gln1052Glu) c.2863C>G (p.Gln955Glu) c.77-1516C>G (n.77-1516C>G) | gnomAD v4 |
| 16 | g.51139068G= | CA2222017373 | SALL1 | c.3154C= (p.Gln1052=) c.2863C= (p.Gln955=) c.77-1516C= (n.77-1516C=) | |
| 16 | g.51139068G>T | CA395881683 | SALL1 | c.3154C>A (p.Gln1052Lys) c.2863C>A (p.Gln955Lys) c.77-1516C>A (n.77-1516C>A) | |
| 16 | g.51139069A>C | CA395881685 | SALL1 | c.3153T>G (p.His1051Gln) c.2862T>G (p.His954Gln) c.77-1517T>G (n.77-1517T>G) | |
| 16 | g.51139069A>G | CA495779868 | SALL1 | c.3153T>C (p.His1051=) c.2862T>C (p.His954=) c.77-1517T>C (n.77-1517T>C) | |
| 16 | g.51139069A>T | CA395881687 | SALL1 | c.3153T>A (p.His1051Gln) c.2862T>A (p.His954Gln) c.77-1517T>A (n.77-1517T>A) | gnomAD v4 |
| 16 | g.51139070T>A | CA395881691 | SALL1 | c.3152A>T (p.His1051Leu) c.2861A>T (p.His954Leu) c.77-1518A>T (n.77-1518A>T) | |
| 16 | g.51139070T>C | CA395881694 | SALL1 | c.3152A>G (p.His1051Arg) c.2861A>G (p.His954Arg) c.77-1518A>G (n.77-1518A>G) | |
| 16 | g.51139070T>G | CA395881692 | SALL1 | c.3152A>C (p.His1051Pro) c.2861A>C (p.His954Pro) c.77-1518A>C (n.77-1518A>C) | |
| 16 | g.51139071G>A | CA395881696 | SALL1 | c.3151C>T (p.His1051Tyr) c.2860C>T (p.His954Tyr) c.77-1519C>T (n.77-1519C>T) | |
| 16 | g.51139071G>C | CA395881702 | SALL1 | c.3151C>G (p.His1051Asp) c.2860C>G (p.His954Asp) c.77-1519C>G (n.77-1519C>G) | |
| 16 | g.51139071G>T | CA395881699 | SALL1 | c.3151C>A (p.His1051Asn) c.2860C>A (p.His954Asn) c.77-1519C>A (n.77-1519C>A) | |
| 16 | g.51139072T>A | CA495779873 | SALL1 | c.3150A>T (p.Thr1050=) c.2859A>T (p.Thr953=) c.77-1520A>T (n.77-1520A>T) | |
| 16 | g.51139072T>C | CA495779874 | SALL1 | c.3150A>G (p.Thr1050=) c.2859A>G (p.Thr953=) c.77-1520A>G (n.77-1520A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139072T>G | CA495779875 | SALL1 | c.3150A>C (p.Thr1050=) c.2859A>C (p.Thr953=) c.77-1520A>C (n.77-1520A>C) | gnomAD v4 |
| 16 | g.51139072T= | CA2222017378 | SALL1 | c.3150A= (p.Thr1050=) c.2859A= (p.Thr953=) c.77-1520A= (n.77-1520A=) | |
| 16 | g.51139073G>A | CA395881705 | SALL1 | c.3149C>T (p.Thr1050Ile) c.2858C>T (p.Thr953Ile) c.77-1521C>T (n.77-1521C>T) | COSMIC |
| 16 | g.51139073G>C | CA395881708 | SALL1 | c.3149C>G (p.Thr1050Arg) c.2858C>G (p.Thr953Arg) c.77-1521C>G (n.77-1521C>G) | |
| 16 | g.51139073G>T | CA395881711 | SALL1 | c.3149C>A (p.Thr1050Lys) c.2858C>A (p.Thr953Lys) c.77-1521C>A (n.77-1521C>A) | |
| 16 | g.51139074T>A | CA395881714 | SALL1 | c.3148A>T (p.Thr1050Ser) c.2857A>T (p.Thr953Ser) c.77-1522A>T (n.77-1522A>T) | |
| 16 | g.51139074T>C | CA395881715 | SALL1 | c.3148A>G (p.Thr1050Ala) c.2857A>G (p.Thr953Ala) c.77-1522A>G (n.77-1522A>G) | |
| 16 | g.51139074T>G | CA395881716 | SALL1 | c.3148A>C (p.Thr1050Pro) c.2857A>C (p.Thr953Pro) c.77-1522A>C (n.77-1522A>C) | |
| 16 | g.51139075C>A | CA395881717 | SALL1 | c.3147G>T (p.Leu1049Phe) c.2856G>T (p.Leu952Phe) c.77-1523G>T (n.77-1523G>T) | |
| 16 | g.51139075C>G | CA395881718 | SALL1 | c.3147G>C (p.Leu1049Phe) c.2856G>C (p.Leu952Phe) c.77-1523G>C (n.77-1523G>C) | |
| 16 | g.51139075C>T | CA495779880 | SALL1 | c.3147G>A (p.Leu1049=) c.2856G>A (p.Leu952=) c.77-1523G>A (n.77-1523G>A) | |
| 16 | g.51139076A>C | CA395881721 | SALL1 | c.3146T>G (p.Leu1049Trp) c.2855T>G (p.Leu952Trp) c.77-1524T>G (n.77-1524T>G) | |
| 16 | g.51139076A>G | CA395881726 | SALL1 | c.3146T>C (p.Leu1049Ser) c.2855T>C (p.Leu952Ser) c.77-1524T>C (n.77-1524T>C) | |
| 16 | g.51139076A>T | CA395881729 | SALL1 | c.3146T>A (p.Leu1049Ter) c.2855T>A (p.Leu952Ter) c.77-1524T>A (n.77-1524T>A) | |
| 16 | g.51139077A>C | CA395881733 | SALL1 | c.3145T>G (p.Leu1049Val) c.2854T>G (p.Leu952Val) c.77-1525T>G (n.77-1525T>G) | |
| 16 | g.51139077A>G | CA495779885 | SALL1 | c.3145T>C (p.Leu1049=) c.2854T>C (p.Leu952=) c.77-1525T>C (n.77-1525T>C) | gnomAD v4 |
| 16 | g.51139077A>T | CA395881731 | SALL1 | c.3145T>A (p.Leu1049Met) c.2854T>A (p.Leu952Met) c.77-1525T>A (n.77-1525T>A) | |
| 16 | g.51139078C>A | CA395881735 | SALL1 | c.3144G>T (p.Met1048Ile) c.2853G>T (p.Met951Ile) c.77-1526G>T (n.77-1526G>T) | |
| 16 | g.51139078C>G | CA395881736 | SALL1 | c.3144G>C (p.Met1048Ile) c.2853G>C (p.Met951Ile) c.77-1526G>C (n.77-1526G>C) | |
| 16 | g.51139078C>T | CA395881738 | SALL1 | c.3144G>A (p.Met1048Ile) c.2853G>A (p.Met951Ile) c.77-1526G>A (n.77-1526G>A) | |
| 16 | g.51139079A= | CA2222017383 | SALL1 | c.3143T= (p.Met1048=) c.2852T= (p.Met951=) c.77-1527T= (n.77-1527T=) | |
| 16 | g.51139079A>C | CA8052985 | SALL1 | c.3143T>G (p.Met1048Arg) c.2852T>G (p.Met951Arg) c.77-1527T>G (n.77-1527T>G) | dbSNP ExAC gnomAD v2 |
| 16 | g.51139079A>G | CA395881741 | SALL1 | c.3143T>C (p.Met1048Thr) c.2852T>C (p.Met951Thr) c.77-1527T>C (n.77-1527T>C) | gnomAD v4 |
| 16 | g.51139079A>T | CA395881743 | SALL1 | c.3143T>A (p.Met1048Lys) c.2852T>A (p.Met951Lys) c.77-1527T>A (n.77-1527T>A) | |
| 16 | g.51139080T>A | CA395881747 | SALL1 | c.3142A>T (p.Met1048Leu) c.2851A>T (p.Met951Leu) c.77-1528A>T (n.77-1528A>T) | |
| 16 | g.51139080T>C | CA395881749 | SALL1 | c.3142A>G (p.Met1048Val) c.2851A>G (p.Met951Val) c.77-1528A>G (n.77-1528A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139080T>G | CA395881751 | SALL1 | c.3142A>C (p.Met1048Leu) c.2851A>C (p.Met951Leu) c.77-1528A>C (n.77-1528A>C) | |
| 16 | g.51139080T= | CA2222017388 | SALL1 | c.3142A= (p.Met1048=) c.2851A= (p.Met951=) c.77-1528A= (n.77-1528A=) | |
| 16 | g.51139081G>A | CA495779890 | SALL1 | c.3141C>T (p.His1047=) c.2850C>T (p.His950=) c.77-1529C>T (n.77-1529C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139081G>C | CA395881753 | SALL1 | c.3141C>G (p.His1047Gln) c.2850C>G (p.His950Gln) c.77-1529C>G (n.77-1529C>G) | |
| 16 | g.51139081G= | CA2222017393 | SALL1 | c.3141C= (p.His1047=) c.2850C= (p.His950=) c.77-1529C= (n.77-1529C=) | |
| 16 | g.51139081G>T | CA395881755 | SALL1 | c.3141C>A (p.His1047Gln) c.2850C>A (p.His950Gln) c.77-1529C>A (n.77-1529C>A) | |
| 16 | g.51139082T>A | CA395881758 | SALL1 | c.3140A>T (p.His1047Leu) c.2849A>T (p.His950Leu) c.77-1530A>T (n.77-1530A>T) | |
| 16 | g.51139082T>C | CA395881760 | SALL1 | c.3140A>G (p.His1047Arg) c.2849A>G (p.His950Arg) c.77-1530A>G (n.77-1530A>G) | |
| 16 | g.51139082T>G | CA395881756 | SALL1 | c.3140A>C (p.His1047Pro) c.2849A>C (p.His950Pro) c.77-1530A>C (n.77-1530A>C) |