Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51137264C>A | CA395877884 | SALL1 | c.3823G>T (p.Val1275Phe) c.3532G>T (p.Val1178Phe) c.365G>T (n.365G>T) | |
16 | g.51137264C= | CA2222079784 | SALL1 | c.3823G= (p.Val1275=) c.3532G= (p.Val1178=) c.365G= (n.365G=) | |
16 | g.51137264C>G | CA395877885 | SALL1 | c.3823G>C (p.Val1275Leu) c.3532G>C (p.Val1178Leu) c.365G>C (n.365G>C) | dbSNP |
16 | g.51137264C>T | CA8052821 | SALL1 | c.3823G>A (p.Val1275Ile) c.3532G>A (p.Val1178Ile) c.365G>A (n.365G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51137265A>C | CA495478664 | SALL1 | c.3822T>G (p.Pro1274=) c.3531T>G (p.Pro1177=) c.364T>G (n.364T>G) | |
16 | g.51137265A>G | CA495478665 | SALL1 | c.3822T>C (p.Pro1274=) c.3531T>C (p.Pro1177=) c.364T>C (n.364T>C) | |
16 | g.51137265A>T | CA495478667 | SALL1 | c.3822T>A (p.Pro1274=) c.3531T>A (p.Pro1177=) c.364T>A (n.364T>A) | |
16 | g.51137267_51137271del | CA977270062 | SALL1 | c.3818_3822del (p.Ser1273CysfsTer2) c.3527_3531del (p.Ser1176CysfsTer2) c.360_364del (n.360_364del) | gnomAD v3 gnomAD v4 |
16 | g.51137266G>A | CA395877886 | SALL1 | c.3821C>T (p.Pro1274Leu) c.3530C>T (p.Pro1177Leu) c.363C>T (n.363C>T) | |
16 | g.51137266G>C | CA395877887 | SALL1 | c.3821C>G (p.Pro1274Arg) c.3530C>G (p.Pro1177Arg) c.363C>G (n.363C>G) | |
16 | g.51137266G>T | CA395877888 | SALL1 | c.3821C>A (p.Pro1274His) c.3530C>A (p.Pro1177His) c.363C>A (n.363C>A) | |
16 | g.51137267G>A | CA395877889 | SALL1 | c.3820C>T (p.Pro1274Ser) c.3529C>T (p.Pro1177Ser) c.362C>T (n.362C>T) | dbSNP |
16 | g.51137267G>C | CA395877890 | SALL1 | c.3820C>G (p.Pro1274Ala) c.3529C>G (p.Pro1177Ala) c.362C>G (n.362C>G) | |
16 | g.51137267G= | CA2222079794 | SALL1 | c.3820C= (p.Pro1274=) c.3529C= (p.Pro1177=) c.362C= (n.362C=) | |
16 | g.51137267G>T | CA395877891 | SALL1 | c.3820C>A (p.Pro1274Thr) c.3529C>A (p.Pro1177Thr) c.362C>A (n.362C>A) | |
16 | g.51137268T>A | CA495478678 | SALL1 | c.3819A>T (p.Ser1273=) c.3528A>T (p.Ser1176=) c.361A>T (n.361A>T) | COSMIC |
16 | g.51137268T>C | CA495478679 | SALL1 | c.3819A>G (p.Ser1273=) c.3528A>G (p.Ser1176=) c.361A>G (n.361A>G) | |
16 | g.51137268T>G | CA495478675 | SALL1 | c.3819A>C (p.Ser1273=) c.3528A>C (p.Ser1176=) c.361A>C (n.361A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51137268T= | CA2222079795 | SALL1 | c.3819A= (p.Ser1273=) c.3528A= (p.Ser1176=) c.361A= (n.361A=) | |
16 | g.51137269G>A | CA395877892 | SALL1 | c.3818C>T (p.Ser1273Leu) c.3527C>T (p.Ser1176Leu) c.360C>T (n.360C>T) | dbSNP |
16 | g.51137269G>C | CA395877893 | SALL1 | c.3818C>G (p.Ser1273Ter) c.3527C>G (p.Ser1176Ter) c.360C>G (n.360C>G) | |
16 | g.51137269G>T | CA395877894 | SALL1 | c.3818C>A (p.Ser1273Ter) c.3527C>A (p.Ser1176Ter) c.360C>A (n.360C>A) | |
16 | g.51137270A>C | CA395877895 | SALL1 | c.3817T>G (p.Ser1273Ala) c.3526T>G (p.Ser1176Ala) c.359T>G (n.359T>G) | |
16 | g.51137270A>G | CA395877896 | SALL1 | c.3817T>C (p.Ser1273Pro) c.3526T>C (p.Ser1176Pro) c.359T>C (n.359T>C) | |
16 | g.51137270A>T | CA395877897 | SALL1 | c.3817T>A (p.Ser1273Thr) c.3526T>A (p.Ser1176Thr) c.359T>A (n.359T>A) | |
16 | g.51137271G>A | CA495478685 | SALL1 | c.3816C>T (p.Ser1272=) c.3525C>T (p.Ser1175=) c.358C>T (n.358C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51137271G>C | CA395877899 | SALL1 | c.3816C>G (p.Ser1272Arg) c.3525C>G (p.Ser1175Arg) c.358C>G (n.358C>G) | |
16 | g.51137271G= | CA2222079798 | SALL1 | c.3816C= (p.Ser1272=) c.3525C= (p.Ser1175=) c.358C= (n.358C=) | |
16 | g.51137271G>T | CA395877898 | SALL1 | c.3816C>A (p.Ser1272Arg) c.3525C>A (p.Ser1175Arg) c.358C>A (n.358C>A) | |
16 | g.51137272C>A | CA395877900 | SALL1 | c.3815G>T (p.Ser1272Ile) c.3524G>T (p.Ser1175Ile) c.357G>T (n.357G>T) | |
16 | g.51137272C= | CA2222079805 | SALL1 | c.3815G= (p.Ser1272=) c.3524G= (p.Ser1175=) c.357G= (n.357G=) | |
16 | g.51137272C>G | CA395877901 | SALL1 | c.3815G>C (p.Ser1272Thr) c.3524G>C (p.Ser1175Thr) c.357G>C (n.357G>C) | dbSNP gnomAD v4 |
16 | g.51137272C>T | CA395877902 | SALL1 | c.3815G>A (p.Ser1272Asn) c.3524G>A (p.Ser1175Asn) c.357G>A (n.357G>A) | dbSNP gnomAD v4 |
16 | g.51137273T>A | CA395877903 | SALL1 | c.3814A>T (p.Ser1272Cys) c.3523A>T (p.Ser1175Cys) c.356A>T (n.356A>T) | |
16 | g.51137273T>C | CA395877904 | SALL1 | c.3814A>G (p.Ser1272Gly) c.3523A>G (p.Ser1175Gly) c.356A>G (n.356A>G) | |
16 | g.51137273T>G | CA395877905 | SALL1 | c.3814A>C (p.Ser1272Arg) c.3523A>C (p.Ser1175Arg) c.356A>C (n.356A>C) | |
16 | g.51137274G>A | CA495478692 | SALL1 | c.3813C>T (p.Asn1271=) c.3522C>T (p.Asn1174=) c.355C>T (n.355C>T) | |
16 | g.51137274G>C | CA395877906 | SALL1 | c.3813C>G (p.Asn1271Lys) c.3522C>G (p.Asn1174Lys) c.355C>G (n.355C>G) | gnomAD v4 |
16 | g.51137274G= | CA2222079810 | SALL1 | c.3813C= (p.Asn1271=) c.3522C= (p.Asn1174=) c.355C= (n.355C=) | |
16 | g.51137274G>T | CA395877907 | SALL1 | c.3813C>A (p.Asn1271Lys) c.3522C>A (p.Asn1174Lys) c.355C>A (n.355C>A) | dbSNP gnomAD v2 |
16 | g.51137275T>A | CA395877908 | SALL1 | c.3812A>T (p.Asn1271Ile) c.3521A>T (p.Asn1174Ile) c.354A>T (n.354A>T) | |
16 | g.51137275T>C | CA395877909 | SALL1 | c.3812A>G (p.Asn1271Ser) c.3521A>G (p.Asn1174Ser) c.354A>G (n.354A>G) | gnomAD v3 gnomAD v4 |
16 | g.51137275T>G | CA395877910 | SALL1 | c.3812A>C (p.Asn1271Thr) c.3521A>C (p.Asn1174Thr) c.354A>C (n.354A>C) | |
16 | g.51137275_51137276del | CA2556578168 | SALL1 | c.3811_3812del (p.Asn1271GlnfsTer5) c.3520_3521del (p.Asn1174GlnfsTer5) c.353_354del (n.353_354del) | |
16 | g.51137276T>A | CA395877911 | SALL1 | c.3811A>T (p.Asn1271Tyr) c.3520A>T (p.Asn1174Tyr) c.353A>T (n.353A>T) | |
16 | g.51137276T>C | CA395877912 | SALL1 | c.3811A>G (p.Asn1271Asp) c.3520A>G (p.Asn1174Asp) c.353A>G (n.353A>G) | |
16 | g.51137276T>G | CA395877913 | SALL1 | c.3811A>C (p.Asn1271His) c.3520A>C (p.Asn1174His) c.353A>C (n.353A>C) | |
16 | g.51137277C>A | CA495779332 | SALL1 | c.3810G>T (p.Gly1270=) c.3519G>T (p.Gly1173=) c.352G>T (n.352G>T) | |
16 | g.51137277C= | CA2222079813 | SALL1 | c.3810G= (p.Gly1270=) c.3519G= (p.Gly1173=) c.352G= (n.352G=) | |
16 | g.51137277C>G | CA495779334 | SALL1 | c.3810G>C (p.Gly1270=) c.3519G>C (p.Gly1173=) c.352G>C (n.352G>C) |