Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139101T>A | CA395881871 | SALL1 | c.3121A>T (p.Lys1041Ter) c.2830A>T (p.Lys944Ter) c.77-1549A>T (n.77-1549A>T) | |
16 | g.51139101T>C | CA395881870 | SALL1 | c.3121A>G (p.Lys1041Glu) c.2830A>G (p.Lys944Glu) c.77-1549A>G (n.77-1549A>G) | |
16 | g.51139101T>G | CA395881869 | SALL1 | c.3121A>C (p.Lys1041Gln) c.2830A>C (p.Lys944Gln) c.77-1549A>C (n.77-1549A>C) | |
16 | g.51139102T>A | CA495779931 | SALL1 | c.3120A>T (p.Thr1040=) c.2829A>T (p.Thr943=) c.77-1550A>T (n.77-1550A>T) | |
16 | g.51139102T>C | CA241500 | SALL1 | c.3120A>G (p.Thr1040=) c.2829A>G (p.Thr943=) c.77-1550A>G (n.77-1550A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139102T>G | CA495779934 | SALL1 | c.3120A>C (p.Thr1040=) c.2829A>C (p.Thr943=) c.77-1550A>C (n.77-1550A>C) | |
16 | g.51139102T= | CA2222017418 | SALL1 | c.3120A= (p.Thr1040=) c.2829A= (p.Thr943=) c.77-1550A= (n.77-1550A=) | |
16 | g.51139103G>A | CA395881872 | SALL1 | c.3119C>T (p.Thr1040Ile) c.2828C>T (p.Thr943Ile) c.77-1551C>T (n.77-1551C>T) | |
16 | g.51139103G>C | CA395881873 | SALL1 | c.3119C>G (p.Thr1040Arg) c.2828C>G (p.Thr943Arg) c.77-1551C>G (n.77-1551C>G) | |
16 | g.51139103G>T | CA395881874 | SALL1 | c.3119C>A (p.Thr1040Lys) c.2828C>A (p.Thr943Lys) c.77-1551C>A (n.77-1551C>A) | |
16 | g.51139104T>A | CA395881875 | SALL1 | c.3118A>T (p.Thr1040Ser) c.2827A>T (p.Thr943Ser) c.77-1552A>T (n.77-1552A>T) | |
16 | g.51139104T>C | CA395881876 | SALL1 | c.3118A>G (p.Thr1040Ala) c.2827A>G (p.Thr943Ala) c.77-1552A>G (n.77-1552A>G) | |
16 | g.51139104T>G | CA395881877 | SALL1 | c.3118A>C (p.Thr1040Pro) c.2827A>C (p.Thr943Pro) c.77-1552A>C (n.77-1552A>C) | |
16 | g.51139105G>A | CA495779941 | SALL1 | c.3117C>T (p.Ser1039=) c.2826C>T (p.Ser942=) c.77-1553C>T (n.77-1553C>T) | ClinVar |
16 | g.51139105G>C | CA495779940 | SALL1 | c.3117C>G (p.Ser1039=) c.2826C>G (p.Ser942=) c.77-1553C>G (n.77-1553C>G) | |
16 | g.51139105G>T | CA495779939 | SALL1 | c.3117C>A (p.Ser1039=) c.2826C>A (p.Ser942=) c.77-1553C>A (n.77-1553C>A) | |
16 | g.51139106G>A | CA281300833 | SALL1 | c.3116C>T (p.Ser1039Phe) c.2825C>T (p.Ser942Phe) c.77-1554C>T (n.77-1554C>T) | dbSNP COSMIC |
16 | g.51139106G>C | CA395881878 | SALL1 | c.3116C>G (p.Ser1039Cys) c.2825C>G (p.Ser942Cys) c.77-1554C>G (n.77-1554C>G) | |
16 | g.51139106G= | CA2222017423 | SALL1 | c.3116C= (p.Ser1039=) c.2825C= (p.Ser942=) c.77-1554C= (n.77-1554C=) | |
16 | g.51139106G>T | CA395881879 | SALL1 | c.3116C>A (p.Ser1039Tyr) c.2825C>A (p.Ser942Tyr) c.77-1554C>A (n.77-1554C>A) | |
16 | g.51139107A>C | CA395881883 | SALL1 | c.3115T>G (p.Ser1039Ala) c.2824T>G (p.Ser942Ala) c.77-1555T>G (n.77-1555T>G) | |
16 | g.51139107A>G | CA395881884 | SALL1 | c.3115T>C (p.Ser1039Pro) c.2824T>C (p.Ser942Pro) c.77-1555T>C (n.77-1555T>C) | |
16 | g.51139107A>T | CA395881886 | SALL1 | c.3115T>A (p.Ser1039Thr) c.2824T>A (p.Ser942Thr) c.77-1555T>A (n.77-1555T>A) | |
16 | g.51139108A>C | CA395881897 | SALL1 | c.3114T>G (p.Phe1038Leu) c.2823T>G (p.Phe941Leu) c.77-1556T>G (n.77-1556T>G) | |
16 | g.51139108A>G | CA495779946 | SALL1 | c.3114T>C (p.Phe1038=) c.2823T>C (p.Phe941=) c.77-1556T>C (n.77-1556T>C) | |
16 | g.51139108A>T | CA395881887 | SALL1 | c.3114T>A (p.Phe1038Leu) c.2823T>A (p.Phe941Leu) c.77-1556T>A (n.77-1556T>A) | |
16 | g.51139109A>C | CA395881898 | SALL1 | c.3113T>G (p.Phe1038Cys) c.2822T>G (p.Phe941Cys) c.77-1557T>G (n.77-1557T>G) | |
16 | g.51139109A>G | CA395881899 | SALL1 | c.3113T>C (p.Phe1038Ser) c.2822T>C (p.Phe941Ser) c.77-1557T>C (n.77-1557T>C) | |
16 | g.51139109A>T | CA395881900 | SALL1 | c.3113T>A (p.Phe1038Tyr) c.2822T>A (p.Phe941Tyr) c.77-1557T>A (n.77-1557T>A) | |
16 | g.51139110A>C | CA395881902 | SALL1 | c.3112T>G (p.Phe1038Val) c.2821T>G (p.Phe941Val) c.77-1558T>G (n.77-1558T>G) | |
16 | g.51139110A>G | CA395881903 | SALL1 | c.3112T>C (p.Phe1038Leu) c.2821T>C (p.Phe941Leu) c.77-1558T>C (n.77-1558T>C) | |
16 | g.51139110A>T | CA395881905 | SALL1 | c.3112T>A (p.Phe1038Ile) c.2821T>A (p.Phe941Ile) c.77-1558T>A (n.77-1558T>A) | |
16 | g.51139111G>A | CA495779951 | SALL1 | c.3111C>T (p.Gly1037=) c.2820C>T (p.Gly940=) c.77-1559C>T (n.77-1559C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139111G>C | CA495779953 | SALL1 | c.3111C>G (p.Gly1037=) c.2820C>G (p.Gly940=) c.77-1559C>G (n.77-1559C>G) | |
16 | g.51139111G= | CA2222017425 | SALL1 | c.3111C= (p.Gly1037=) c.2820C= (p.Gly940=) c.77-1559C= (n.77-1559C=) | |
16 | g.51139111G>T | CA495779952 | SALL1 | c.3111C>A (p.Gly1037=) c.2820C>A (p.Gly940=) c.77-1559C>A (n.77-1559C>A) | |
16 | g.51139112C>A | CA395881909 | SALL1 | c.3110G>T (p.Gly1037Val) c.2819G>T (p.Gly940Val) c.77-1560G>T (n.77-1560G>T) | |
16 | g.51139112C>G | CA395881908 | SALL1 | c.3110G>C (p.Gly1037Ala) c.2819G>C (p.Gly940Ala) c.77-1560G>C (n.77-1560G>C) | |
16 | g.51139112C>T | CA395881907 | SALL1 | c.3110G>A (p.Gly1037Asp) c.2819G>A (p.Gly940Asp) c.77-1560G>A (n.77-1560G>A) | |
16 | g.51139113C>A | CA395881910 | SALL1 | c.3109G>T (p.Gly1037Cys) c.2818G>T (p.Gly940Cys) c.77-1561G>T (n.77-1561G>T) | |
16 | g.51139113C>G | CA395881911 | SALL1 | c.3109G>C (p.Gly1037Arg) c.2818G>C (p.Gly940Arg) c.77-1561G>C (n.77-1561G>C) | |
16 | g.51139113C>T | CA395881912 | SALL1 | c.3109G>A (p.Gly1037Ser) c.2818G>A (p.Gly940Ser) c.77-1561G>A (n.77-1561G>A) | |
16 | g.51139114A>C | CA495779957 | SALL1 | c.3108T>G (p.Arg1036=) c.2817T>G (p.Arg939=) c.77-1562T>G (n.77-1562T>G) | |
16 | g.51139114A>G | CA495779959 | SALL1 | c.3108T>C (p.Arg1036=) c.2817T>C (p.Arg939=) c.77-1562T>C (n.77-1562T>C) | |
16 | g.51139114A>T | CA495779960 | SALL1 | c.3108T>A (p.Arg1036=) c.2817T>A (p.Arg939=) c.77-1562T>A (n.77-1562T>A) | |
16 | g.51139115C>A | CA395881913 | SALL1 | c.3107G>T (p.Arg1036Leu) c.2816G>T (p.Arg939Leu) c.77-1563G>T (n.77-1563G>T) | |
16 | g.51139115C= | CA2222017431 | SALL1 | c.3107G= (p.Arg1036=) c.2816G= (p.Arg939=) c.77-1563G= (n.77-1563G=) | |
16 | g.51139115C>G | CA395881914 | SALL1 | c.3107G>C (p.Arg1036Pro) c.2816G>C (p.Arg939Pro) c.77-1563G>C (n.77-1563G>C) | gnomAD v4 |
16 | g.51139115C>T | CA395881915 | SALL1 | c.3107G>A (p.Arg1036His) c.2816G>A (p.Arg939His) c.77-1563G>A (n.77-1563G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139116G>A | CA8052986 | SALL1 | c.3106C>T (p.Arg1036Cys) c.2815C>T (p.Arg939Cys) c.77-1564C>T (n.77-1564C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |