UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51138894A= | CA2222016957 | SALL1 | c.3328T= (p.Ser1110=) c.3037T= (p.Ser1013=) c.77-1342T= (n.77-1342T=) | |
| 16 | g.51138894A>C | CA395880688 | SALL1 | c.3328T>G (p.Ser1110Ala) c.3037T>G (p.Ser1013Ala) c.77-1342T>G (n.77-1342T>G) | |
| 16 | g.51138894A>G | CA281300611 | SALL1 | c.3328T>C (p.Ser1110Pro) c.3037T>C (p.Ser1013Pro) c.77-1342T>C (n.77-1342T>C) | dbSNP |
| 16 | g.51138894A>T | CA395880685 | SALL1 | c.3328T>A (p.Ser1110Thr) c.3037T>A (p.Ser1013Thr) c.77-1342T>A (n.77-1342T>A) | |
| 16 | g.51138895C>A | CA495779846 | SALL1 | c.3327G>T (p.Pro1109=) c.3036G>T (p.Pro1012=) c.77-1343G>T (n.77-1343G>T) | gnomAD v4 |
| 16 | g.51138895C= | CA2222016962 | SALL1 | c.3327G= (p.Pro1109=) c.3036G= (p.Pro1012=) c.77-1343G= (n.77-1343G=) | |
| 16 | g.51138895C>G | CA495779847 | SALL1 | c.3327G>C (p.Pro1109=) c.3036G>C (p.Pro1012=) c.77-1343G>C (n.77-1343G>C) | |
| 16 | g.51138895C>T | CA8052949 | SALL1 | c.3327G>A (p.Pro1109=) c.3036G>A (p.Pro1012=) c.77-1343G>A (n.77-1343G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138896G>A | CA8052950 | SALL1 | c.3326C>T (p.Pro1109Leu) c.3035C>T (p.Pro1012Leu) c.77-1344C>T (n.77-1344C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138896G>C | CA395880696 | SALL1 | c.3326C>G (p.Pro1109Arg) c.3035C>G (p.Pro1012Arg) c.77-1344C>G (n.77-1344C>G) | |
| 16 | g.51138896G= | CA2222016969 | SALL1 | c.3326C= (p.Pro1109=) c.3035C= (p.Pro1012=) c.77-1344C= (n.77-1344C=) | |
| 16 | g.51138896G>T | CA395880698 | SALL1 | c.3326C>A (p.Pro1109Gln) c.3035C>A (p.Pro1012Gln) c.77-1344C>A (n.77-1344C>A) | |
| 16 | g.51138897G>A | CA395880706 | SALL1 | c.3325C>T (p.Pro1109Ser) c.3034C>T (p.Pro1012Ser) c.77-1345C>T (n.77-1345C>T) | gnomAD v4 COSMIC |
| 16 | g.51138897G>C | CA395880703 | SALL1 | c.3325C>G (p.Pro1109Ala) c.3034C>G (p.Pro1012Ala) c.77-1345C>G (n.77-1345C>G) | |
| 16 | g.51138897G>T | CA395880700 | SALL1 | c.3325C>A (p.Pro1109Thr) c.3034C>A (p.Pro1012Thr) c.77-1345C>A (n.77-1345C>A) | |
| 16 | g.51138898G>A | CA495779849 | SALL1 | c.3324C>T (p.Val1108=) c.3033C>T (p.Val1011=) c.77-1346C>T (n.77-1346C>T) | |
| 16 | g.51138898G>C | CA495779851 | SALL1 | c.3324C>G (p.Val1108=) c.3033C>G (p.Val1011=) c.77-1346C>G (n.77-1346C>G) | dbSNP |
| 16 | g.51138898G>T | CA495779852 | SALL1 | c.3324C>A (p.Val1108=) c.3033C>A (p.Val1011=) c.77-1346C>A (n.77-1346C>A) | |
| 16 | g.51138899A>C | CA395880709 | SALL1 | c.3323T>G (p.Val1108Gly) c.3032T>G (p.Val1011Gly) c.77-1347T>G (n.77-1347T>G) | |
| 16 | g.51138899A>G | CA395880711 | SALL1 | c.3323T>C (p.Val1108Ala) c.3032T>C (p.Val1011Ala) c.77-1347T>C (n.77-1347T>C) | |
| 16 | g.51138899A>T | CA395880712 | SALL1 | c.3323T>A (p.Val1108Asp) c.3032T>A (p.Val1011Asp) c.77-1347T>A (n.77-1347T>A) | |
| 16 | g.51138900C>A | CA8052953 | SALL1 | c.3322G>T (p.Val1108Phe) c.3031G>T (p.Val1011Phe) c.77-1348G>T (n.77-1348G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138900C= | CA2222016976 | SALL1 | c.3322G= (p.Val1108=) c.3031G= (p.Val1011=) c.77-1348G= (n.77-1348G=) | |
| 16 | g.51138900C>G | CA8052951 | SALL1 | c.3322G>C (p.Val1108Leu) c.3031G>C (p.Val1011Leu) c.77-1348G>C (n.77-1348G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138900C>T | CA8052952 | SALL1 | c.3322G>A (p.Val1108Ile) c.3031G>A (p.Val1011Ile) c.77-1348G>A (n.77-1348G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138901G>A | CA8052954 | SALL1 | c.3321C>T (p.His1107=) c.3030C>T (p.His1010=) c.77-1349C>T (n.77-1349C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138901G>C | CA395880722 | SALL1 | c.3321C>G (p.His1107Gln) c.3030C>G (p.His1010Gln) c.77-1349C>G (n.77-1349C>G) | COSMIC |
| 16 | g.51138901G= | CA2222016988 | SALL1 | c.3321C= (p.His1107=) c.3030C= (p.His1010=) c.77-1349C= (n.77-1349C=) | |
| 16 | g.51138901G>T | CA281300662 | SALL1 | c.3321C>A (p.His1107Gln) c.3030C>A (p.His1010Gln) c.77-1349C>A (n.77-1349C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138902T>A | CA395880726 | SALL1 | c.3320A>T (p.His1107Leu) c.3029A>T (p.His1010Leu) c.77-1350A>T (n.77-1350A>T) | |
| 16 | g.51138902T>C | CA395880729 | SALL1 | c.3320A>G (p.His1107Arg) c.3029A>G (p.His1010Arg) c.77-1350A>G (n.77-1350A>G) | |
| 16 | g.51138902T>G | CA395880731 | SALL1 | c.3320A>C (p.His1107Pro) c.3029A>C (p.His1010Pro) c.77-1350A>C (n.77-1350A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138902T= | CA2222016995 | SALL1 | c.3320A= (p.His1107=) c.3029A= (p.His1010=) c.77-1350A= (n.77-1350A=) | |
| 16 | g.51138903G>A | CA395880734 | SALL1 | c.3319C>T (p.His1107Tyr) c.3028C>T (p.His1010Tyr) c.77-1351C>T (n.77-1351C>T) | |
| 16 | g.51138903G>C | CA395880744 | SALL1 | c.3319C>G (p.His1107Asp) c.3028C>G (p.His1010Asp) c.77-1351C>G (n.77-1351C>G) | |
| 16 | g.51138903G>T | CA395880747 | SALL1 | c.3319C>A (p.His1107Asn) c.3028C>A (p.His1010Asn) c.77-1351C>A (n.77-1351C>A) | |
| 16 | g.51138904A>C | CA395880748 | SALL1 | c.3318T>G (p.Ser1106Arg) c.3027T>G (p.Ser1009Arg) c.77-1352T>G (n.77-1352T>G) | |
| 16 | g.51138904A>G | CA495779856 | SALL1 | c.3318T>C (p.Ser1106=) c.3027T>C (p.Ser1009=) c.77-1352T>C (n.77-1352T>C) | |
| 16 | g.51138904A>T | CA395880750 | SALL1 | c.3318T>A (p.Ser1106Arg) c.3027T>A (p.Ser1009Arg) c.77-1352T>A (n.77-1352T>A) | |
| 16 | g.51138905C>A | CA395880752 | SALL1 | c.3317G>T (p.Ser1106Ile) c.3026G>T (p.Ser1009Ile) c.77-1353G>T (n.77-1353G>T) | |
| 16 | g.51138905C= | CA2222016999 | SALL1 | c.3317G= (p.Ser1106=) c.3026G= (p.Ser1009=) c.77-1353G= (n.77-1353G=) | |
| 16 | g.51138905C>G | CA395880753 | SALL1 | c.3317G>C (p.Ser1106Thr) c.3026G>C (p.Ser1009Thr) c.77-1353G>C (n.77-1353G>C) | |
| 16 | g.51138905C>T | CA395880754 | SALL1 | c.3317G>A (p.Ser1106Asn) c.3026G>A (p.Ser1009Asn) c.77-1353G>A (n.77-1353G>A) | dbSNP |
| 16 | g.51138906T>A | CA395880756 | SALL1 | c.3316A>T (p.Ser1106Cys) c.3025A>T (p.Ser1009Cys) c.77-1354A>T (n.77-1354A>T) | |
| 16 | g.51138906T>C | CA395880758 | SALL1 | c.3316A>G (p.Ser1106Gly) c.3025A>G (p.Ser1009Gly) c.77-1354A>G (n.77-1354A>G) | |
| 16 | g.51138906T>G | CA395880755 | SALL1 | c.3316A>C (p.Ser1106Arg) c.3025A>C (p.Ser1009Arg) c.77-1354A>C (n.77-1354A>C) | |
| 16 | g.51138907G>A | CA495779858 | SALL1 | c.3315C>T (p.Thr1105=) c.3024C>T (p.Thr1008=) c.77-1355C>T (n.77-1355C>T) | gnomAD v4 |
| 16 | g.51138907G>C | CA495779860 | SALL1 | c.3315C>G (p.Thr1105=) c.3024C>G (p.Thr1008=) c.77-1355C>G (n.77-1355C>G) | |
| 16 | g.51138907G>T | CA495779859 | SALL1 | c.3315C>A (p.Thr1105=) c.3024C>A (p.Thr1008=) c.77-1355C>A (n.77-1355C>A) | |
| 16 | g.51138908G>A | CA395880759 | SALL1 | c.3314C>T (p.Thr1105Ile) c.3023C>T (p.Thr1008Ile) c.77-1356C>T (n.77-1356C>T) | gnomAD v4 |
| 16 | g.51138908G>C | CA395880761 | SALL1 | c.3314C>G (p.Thr1105Ser) c.3023C>G (p.Thr1008Ser) c.77-1356C>G (n.77-1356C>G) | |
| 16 | g.51138908G>T | CA395880763 | SALL1 | c.3314C>A (p.Thr1105Asn) c.3023C>A (p.Thr1008Asn) c.77-1356C>A (n.77-1356C>A) | |
| 16 | g.51138909T>A | CA395880765 | SALL1 | c.3313A>T (p.Thr1105Ser) c.3022A>T (p.Thr1008Ser) c.77-1357A>T (n.77-1357A>T) | |
| 16 | g.51138909T>C | CA395880767 | SALL1 | c.3313A>G (p.Thr1105Ala) c.3022A>G (p.Thr1008Ala) c.77-1357A>G (n.77-1357A>G) | |
| 16 | g.51138909T>G | CA395880770 | SALL1 | c.3313A>C (p.Thr1105Pro) c.3022A>C (p.Thr1008Pro) c.77-1357A>C (n.77-1357A>C) | dbSNP |
| 16 | g.51138909T= | CA2222017008 | SALL1 | c.3313A= (p.Thr1105=) c.3022A= (p.Thr1008=) c.77-1357A= (n.77-1357A=) | |
| 16 | g.51138910G>A | CA495779861 | SALL1 | c.3312C>T (p.Pro1104=) c.3021C>T (p.Pro1007=) c.77-1358C>T (n.77-1358C>T) | |
| 16 | g.51138910G>C | CA495779862 | SALL1 | c.3312C>G (p.Pro1104=) c.3021C>G (p.Pro1007=) c.77-1358C>G (n.77-1358C>G) | |
| 16 | g.51138910G= | CA2222017013 | SALL1 | c.3312C= (p.Pro1104=) c.3021C= (p.Pro1007=) c.77-1358C= (n.77-1358C=) | |
| 16 | g.51138910G>T | CA8052955 | SALL1 | c.3312C>A (p.Pro1104=) c.3021C>A (p.Pro1007=) c.77-1358C>A (n.77-1358C>A) | dbSNP ExAC gnomAD v4 |
| 16 | g.51138911G>A | CA395880775 | SALL1 | c.3311C>T (p.Pro1104Leu) c.3020C>T (p.Pro1007Leu) c.77-1359C>T (n.77-1359C>T) | |
| 16 | g.51138911G>C | CA395880779 | SALL1 | c.3311C>G (p.Pro1104Arg) c.3020C>G (p.Pro1007Arg) c.77-1359C>G (n.77-1359C>G) | |
| 16 | g.51138911G>T | CA395880777 | SALL1 | c.3311C>A (p.Pro1104His) c.3020C>A (p.Pro1007His) c.77-1359C>A (n.77-1359C>A) | |
| 16 | g.51138912G>A | CA395880783 | SALL1 | c.3310C>T (p.Pro1104Ser) c.3019C>T (p.Pro1007Ser) c.77-1360C>T (n.77-1360C>T) | gnomAD v4 |
| 16 | g.51138912G>C | CA8052956 | SALL1 | c.3310C>G (p.Pro1104Ala) c.3019C>G (p.Pro1007Ala) c.77-1360C>G (n.77-1360C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138912G= | CA2222017019 | SALL1 | c.3310C= (p.Pro1104=) c.3019C= (p.Pro1007=) c.77-1360C= (n.77-1360C=) | |
| 16 | g.51138912G>T | CA395880787 | SALL1 | c.3310C>A (p.Pro1104Thr) c.3019C>A (p.Pro1007Thr) c.77-1360C>A (n.77-1360C>A) | |
| 16 | g.51138913G>A | CA495779866 | SALL1 | c.3309C>T (p.Thr1103=) c.3018C>T (p.Thr1006=) c.77-1361C>T (n.77-1361C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138913G>C | CA495779867 | SALL1 | c.3309C>G (p.Thr1103=) c.3018C>G (p.Thr1006=) c.77-1361C>G (n.77-1361C>G) | |
| 16 | g.51138913G= | CA2222017026 | SALL1 | c.3309C= (p.Thr1103=) c.3018C= (p.Thr1006=) c.77-1361C= (n.77-1361C=) | |
| 16 | g.51138913G>T | CA8052957 | SALL1 | c.3309C>A (p.Thr1103=) c.3018C>A (p.Thr1006=) c.77-1361C>A (n.77-1361C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138914G>A | CA395880795 | SALL1 | c.3308C>T (p.Thr1103Ile) c.3017C>T (p.Thr1006Ile) c.77-1362C>T (n.77-1362C>T) | |
| 16 | g.51138914G>C | CA395880791 | SALL1 | c.3308C>G (p.Thr1103Ser) c.3017C>G (p.Thr1006Ser) c.77-1362C>G (n.77-1362C>G) | |
| 16 | g.51138914G>T | CA395880794 | SALL1 | c.3308C>A (p.Thr1103Asn) c.3017C>A (p.Thr1006Asn) c.77-1362C>A (n.77-1362C>A) | gnomAD v4 |
| 16 | g.51138915T>A | CA395880798 | SALL1 | c.3307A>T (p.Thr1103Ser) c.3016A>T (p.Thr1006Ser) c.77-1363A>T (n.77-1363A>T) | |
| 16 | g.51138915T>C | CA395880801 | SALL1 | c.3307A>G (p.Thr1103Ala) c.3016A>G (p.Thr1006Ala) c.77-1363A>G (n.77-1363A>G) | |
| 16 | g.51138915T>G | CA395880804 | SALL1 | c.3307A>C (p.Thr1103Pro) c.3016A>C (p.Thr1006Pro) c.77-1363A>C (n.77-1363A>C) | dbSNP |
| 16 | g.51138915T= | CA2222017035 | SALL1 | c.3307A= (p.Thr1103=) c.3016A= (p.Thr1006=) c.77-1363A= (n.77-1363A=) | |
| 16 | g.51138916G>A | CA495779870 | SALL1 | c.3306C>T (p.Asp1102=) c.3015C>T (p.Asp1005=) c.77-1364C>T (n.77-1364C>T) | |
| 16 | g.51138916G>C | CA395880807 | SALL1 | c.3306C>G (p.Asp1102Glu) c.3015C>G (p.Asp1005Glu) c.77-1364C>G (n.77-1364C>G) | |
| 16 | g.51138916G>T | CA395880810 | SALL1 | c.3306C>A (p.Asp1102Glu) c.3015C>A (p.Asp1005Glu) c.77-1364C>A (n.77-1364C>A) | gnomAD v4 |
| 16 | g.51138917T>A | CA395880813 | SALL1 | c.3305A>T (p.Asp1102Val) c.3014A>T (p.Asp1005Val) c.77-1365A>T (n.77-1365A>T) | |
| 16 | g.51138917T>C | CA10605926 | SALL1 | c.3305A>G (p.Asp1102Gly) c.3014A>G (p.Asp1005Gly) c.77-1365A>G (n.77-1365A>G) | ClinVar dbSNP |
| 16 | g.51138917T>G | CA395880817 | SALL1 | c.3305A>C (p.Asp1102Ala) c.3014A>C (p.Asp1005Ala) c.77-1365A>C (n.77-1365A>C) | |
| 16 | g.51138917T= | CA2222017040 | SALL1 | c.3305A= (p.Asp1102=) c.3014A= (p.Asp1005=) c.77-1365A= (n.77-1365A=) | |
| 16 | g.51138918C>A | CA395880820 | SALL1 | c.3304G>T (p.Asp1102Tyr) c.3013G>T (p.Asp1005Tyr) c.77-1366G>T (n.77-1366G>T) | |
| 16 | g.51138918C>G | CA395880823 | SALL1 | c.3304G>C (p.Asp1102His) c.3013G>C (p.Asp1005His) c.77-1366G>C (n.77-1366G>C) | |
| 16 | g.51138918C>T | CA395880825 | SALL1 | c.3304G>A (p.Asp1102Asn) c.3013G>A (p.Asp1005Asn) c.77-1366G>A (n.77-1366G>A) | |
| 16 | g.51138919C>A | CA395880828 | SALL1 | c.3303G>T (p.Lys1101Asn) c.3012G>T (p.Lys1004Asn) c.77-1367G>T (n.77-1367G>T) | |
| 16 | g.51138919C>G | CA395880830 | SALL1 | c.3303G>C (p.Lys1101Asn) c.3012G>C (p.Lys1004Asn) c.77-1367G>C (n.77-1367G>C) | |
| 16 | g.51138919C>T | CA495779876 | SALL1 | c.3303G>A (p.Lys1101=) c.3012G>A (p.Lys1004=) c.77-1367G>A (n.77-1367G>A) | |
| 16 | g.51138920T>A | CA395880834 | SALL1 | c.3302A>T (p.Lys1101Met) c.3011A>T (p.Lys1004Met) c.77-1368A>T (n.77-1368A>T) | |
| 16 | g.51138920T>C | CA281300686 | SALL1 | c.3302A>G (p.Lys1101Arg) c.3011A>G (p.Lys1004Arg) c.77-1368A>G (n.77-1368A>G) | dbSNP |
| 16 | g.51138920T>G | CA395880839 | SALL1 | c.3302A>C (p.Lys1101Thr) c.3011A>C (p.Lys1004Thr) c.77-1368A>C (n.77-1368A>C) | |
| 16 | g.51138920T= | CA2222017048 | SALL1 | c.3302A= (p.Lys1101=) c.3011A= (p.Lys1004=) c.77-1368A= (n.77-1368A=) | |
| 16 | g.51138921T>A | CA395880842 | SALL1 | c.3301A>T (p.Lys1101Ter) c.3010A>T (p.Lys1004Ter) c.77-1369A>T (n.77-1369A>T) | |
| 16 | g.51138921T>C | CA395880844 | SALL1 | c.3301A>G (p.Lys1101Glu) c.3010A>G (p.Lys1004Glu) c.77-1369A>G (n.77-1369A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138921T>G | CA395880846 | SALL1 | c.3301A>C (p.Lys1101Gln) c.3010A>C (p.Lys1004Gln) c.77-1369A>C (n.77-1369A>C) | |
| 16 | g.51138921T= | CA2222017051 | SALL1 | c.3301A= (p.Lys1101=) c.3010A= (p.Lys1004=) c.77-1369A= (n.77-1369A=) | |
| 16 | g.51138922A>C | CA395880849 | SALL1 | c.3300T>G (p.Ser1100Arg) c.3009T>G (p.Ser1003Arg) c.77-1370T>G (n.77-1370T>G) | |
| 16 | g.51138922A>G | CA495779879 | SALL1 | c.3300T>C (p.Ser1100=) c.3009T>C (p.Ser1003=) c.77-1370T>C (n.77-1370T>C) | |
| 16 | g.51138922A>T | CA395880851 | SALL1 | c.3300T>A (p.Ser1100Arg) c.3009T>A (p.Ser1003Arg) c.77-1370T>A (n.77-1370T>A) | |
| 16 | g.51138923C>A | CA395880855 | SALL1 | c.3299G>T (p.Ser1100Ile) c.3008G>T (p.Ser1003Ile) c.77-1371G>T (n.77-1371G>T) | COSMIC |
| 16 | g.51138923C>G | CA395880857 | SALL1 | c.3299G>C (p.Ser1100Thr) c.3008G>C (p.Ser1003Thr) c.77-1371G>C (n.77-1371G>C) | |
| 16 | g.51138923C>T | CA395880860 | SALL1 | c.3299G>A (p.Ser1100Asn) c.3008G>A (p.Ser1003Asn) c.77-1371G>A (n.77-1371G>A) | dbSNP |
| 16 | g.51138924T>A | CA395880863 | SALL1 | c.3298A>T (p.Ser1100Cys) c.3007A>T (p.Ser1003Cys) c.77-1372A>T (n.77-1372A>T) | dbSNP |
| 16 | g.51138924T>C | CA395880866 | SALL1 | c.3298A>G (p.Ser1100Gly) c.3007A>G (p.Ser1003Gly) c.77-1372A>G (n.77-1372A>G) | |
| 16 | g.51138924T>G | CA395880868 | SALL1 | c.3298A>C (p.Ser1100Arg) c.3007A>C (p.Ser1003Arg) c.77-1372A>C (n.77-1372A>C) | |
| 16 | g.51138924T= | CA2222017055 | SALL1 | c.3298A= (p.Ser1100=) c.3007A= (p.Ser1003=) c.77-1372A= (n.77-1372A=) | |
| 16 | g.51138925G>A | CA495779883 | SALL1 | c.3297C>T (p.Asp1099=) c.3006C>T (p.Asp1002=) c.77-1373C>T (n.77-1373C>T) | dbSNP gnomAD v4 |
| 16 | g.51138925G>C | CA8052958 | SALL1 | c.3297C>G (p.Asp1099Glu) c.3006C>G (p.Asp1002Glu) c.77-1373C>G (n.77-1373C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138925G= | CA2222017056 | SALL1 | c.3297C= (p.Asp1099=) c.3006C= (p.Asp1002=) c.77-1373C= (n.77-1373C=) | |
| 16 | g.51138925G>T | CA395880874 | SALL1 | c.3297C>A (p.Asp1099Glu) c.3006C>A (p.Asp1002Glu) c.77-1373C>A (n.77-1373C>A) | |
| 16 | g.51138926T>A | CA395880880 | SALL1 | c.3296A>T (p.Asp1099Val) c.3005A>T (p.Asp1002Val) c.77-1374A>T (n.77-1374A>T) | |
| 16 | g.51138926T>C | CA395880875 | SALL1 | c.3296A>G (p.Asp1099Gly) c.3005A>G (p.Asp1002Gly) c.77-1374A>G (n.77-1374A>G) | |
| 16 | g.51138926T>G | CA395880878 | SALL1 | c.3296A>C (p.Asp1099Ala) c.3005A>C (p.Asp1002Ala) c.77-1374A>C (n.77-1374A>C) | |
| 16 | g.51138927C>A | CA395880882 | SALL1 | c.3295G>T (p.Asp1099Tyr) c.3004G>T (p.Asp1002Tyr) c.77-1375G>T (n.77-1375G>T) | gnomAD v4 |
| 16 | g.51138927C>G | CA395880884 | SALL1 | c.3295G>C (p.Asp1099His) c.3004G>C (p.Asp1002His) c.77-1375G>C (n.77-1375G>C) | |
| 16 | g.51138927C>T | CA395880887 | SALL1 | c.3295G>A (p.Asp1099Asn) c.3004G>A (p.Asp1002Asn) c.77-1375G>A (n.77-1375G>A) | gnomAD v4 |
| 16 | g.51138928C>A | CA395880889 | SALL1 | c.3294G>T (p.Gln1098His) c.3003G>T (p.Gln1001His) c.77-1376G>T (n.77-1376G>T) | |
| 16 | g.51138928C>G | CA395880892 | SALL1 | c.3294G>C (p.Gln1098His) c.3003G>C (p.Gln1001His) c.77-1376G>C (n.77-1376G>C) | |
| 16 | g.51138928C>T | CA495779886 | SALL1 | c.3294G>A (p.Gln1098=) c.3003G>A (p.Gln1001=) c.77-1376G>A (n.77-1376G>A) | COSMIC |
| 16 | g.51138929T>A | CA395880895 | SALL1 | c.3293A>T (p.Gln1098Leu) c.3002A>T (p.Gln1001Leu) c.77-1377A>T (n.77-1377A>T) | |
| 16 | g.51138929T>C | CA395880898 | SALL1 | c.3293A>G (p.Gln1098Arg) c.3002A>G (p.Gln1001Arg) c.77-1377A>G (n.77-1377A>G) | |
| 16 | g.51138929T>G | CA395880901 | SALL1 | c.3293A>C (p.Gln1098Pro) c.3002A>C (p.Gln1001Pro) c.77-1377A>C (n.77-1377A>C) | |
| 16 | g.51138929_51138932delinsTGAG | CA2222017057 | SALL1 | c.3290_3293delinsCTCA (p.Pro1097=) c.2999_3002delinsCTCA (p.Pro1000=) c.77-1380_77-1377delinsCTCA (n.77-1380_77-1377delinsCTCA) | |
| 16 | g.51138930G>A | CA395880903 | SALL1 | c.3292C>T (p.Gln1098Ter) c.3001C>T (p.Gln1001Ter) c.77-1378C>T (n.77-1378C>T) | |
| 16 | g.51138930G>C | CA395880906 | SALL1 | c.3292C>G (p.Gln1098Glu) c.3001C>G (p.Gln1001Glu) c.77-1378C>G (n.77-1378C>G) | |
| 16 | g.51138930G>T | CA395880908 | SALL1 | c.3292C>A (p.Gln1098Lys) c.3001C>A (p.Gln1001Lys) c.77-1378C>A (n.77-1378C>A) | |
| 16 | g.51138933_51138935del | CA622654490 | SALL1 | c.3290_3292del (p.Pro1097del) c.2999_3001del (p.Pro1000del) c.77-1380_77-1378del (n.77-1380_77-1378del) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138931A= | CA2222017058 | SALL1 | c.3291T= (p.Pro1097=) c.3000T= (p.Pro1000=) c.77-1379T= (n.77-1379T=) | |
| 16 | g.51138931A>C | CA495779892 | SALL1 | c.3291T>G (p.Pro1097=) c.3000T>G (p.Pro1000=) c.77-1379T>G (n.77-1379T>G) | |
| 16 | g.51138931A>G | CA495779891 | SALL1 | c.3291T>C (p.Pro1097=) c.3000T>C (p.Pro1000=) c.77-1379T>C (n.77-1379T>C) | dbSNP |
| 16 | g.51138931A>T | CA495779889 | SALL1 | c.3291T>A (p.Pro1097=) c.3000T>A (p.Pro1000=) c.77-1379T>A (n.77-1379T>A) | |
| 16 | g.51138932G>A | CA395880916 | SALL1 | c.3290C>T (p.Pro1097Leu) c.2999C>T (p.Pro1000Leu) c.77-1380C>T (n.77-1380C>T) | |
| 16 | g.51138932G>C | CA395880913 | SALL1 | c.3290C>G (p.Pro1097Arg) c.2999C>G (p.Pro1000Arg) c.77-1380C>G (n.77-1380C>G) | |
| 16 | g.51138932G>T | CA395880911 | SALL1 | c.3290C>A (p.Pro1097His) c.2999C>A (p.Pro1000His) c.77-1380C>A (n.77-1380C>A) | |
| 16 | g.51138933G>A | CA8052959 | SALL1 | c.3289C>T (p.Pro1097Ser) c.2998C>T (p.Pro1000Ser) c.77-1381C>T (n.77-1381C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51138933G>C | CA395880921 | SALL1 | c.3289C>G (p.Pro1097Ala) c.2998C>G (p.Pro1000Ala) c.77-1381C>G (n.77-1381C>G) | |
| 16 | g.51138933G= | CA2222017059 | SALL1 | c.3289C= (p.Pro1097=) c.2998C= (p.Pro1000=) c.77-1381C= (n.77-1381C=) | |
| 16 | g.51138933G>T | CA395880919 | SALL1 | c.3289C>A (p.Pro1097Thr) c.2998C>A (p.Pro1000Thr) c.77-1381C>A (n.77-1381C>A) | |
| 16 | g.51138934A= | CA2222017061 | SALL1 | c.3288T= (p.Ser1096=) c.2997T= (p.Ser999=) c.77-1382T= (n.77-1382T=) | |
| 16 | g.51138934A>C | CA495779893 | SALL1 | c.3288T>G (p.Ser1096=) c.2997T>G (p.Ser999=) c.77-1382T>G (n.77-1382T>G) | |
| 16 | g.51138934A>G | CA281300704 | SALL1 | c.3288T>C (p.Ser1096=) c.2997T>C (p.Ser999=) c.77-1382T>C (n.77-1382T>C) | dbSNP |
| 16 | g.51138934A>T | CA495779894 | SALL1 | c.3288T>A (p.Ser1096=) c.2997T>A (p.Ser999=) c.77-1382T>A (n.77-1382T>A) | |
| 16 | g.51138935G>A | CA395880924 | SALL1 | c.3287C>T (p.Ser1096Phe) c.2996C>T (p.Ser999Phe) c.77-1383C>T (n.77-1383C>T) | gnomAD v4 |
| 16 | g.51138935G>C | CA395880928 | SALL1 | c.3287C>G (p.Ser1096Cys) c.2996C>G (p.Ser999Cys) c.77-1383C>G (n.77-1383C>G) | |
| 16 | g.51138935G>T | CA395880926 | SALL1 | c.3287C>A (p.Ser1096Tyr) c.2996C>A (p.Ser999Tyr) c.77-1383C>A (n.77-1383C>A) | |
| 16 | g.51138936A>C | CA395880930 | SALL1 | c.3286T>G (p.Ser1096Ala) c.2995T>G (p.Ser999Ala) c.77-1384T>G (n.77-1384T>G) | |
| 16 | g.51138936A>G | CA395880932 | SALL1 | c.3286T>C (p.Ser1096Pro) c.2995T>C (p.Ser999Pro) c.77-1384T>C (n.77-1384T>C) | |
| 16 | g.51138936A>T | CA395880934 | SALL1 | c.3286T>A (p.Ser1096Thr) c.2995T>A (p.Ser999Thr) c.77-1384T>A (n.77-1384T>A) | |
| 16 | g.51138936_51138938del | CA2548182918 | SALL1 | c.3284_3286del (p.Val1095_Ser1096delinsAla) c.2993_2995del (p.Val998_Ser999delinsAla) c.77-1386_77-1384del (n.77-1386_77-1384del) | |
| 16 | g.51138937A>C | CA495779897 | SALL1 | c.3285T>G (p.Val1095=) c.2994T>G (p.Val998=) c.77-1385T>G (n.77-1385T>G) | |
| 16 | g.51138937A>G | CA495779898 | SALL1 | c.3285T>C (p.Val1095=) c.2994T>C (p.Val998=) c.77-1385T>C (n.77-1385T>C) | |
| 16 | g.51138937A>T | CA495779899 | SALL1 | c.3285T>A (p.Val1095=) c.2994T>A (p.Val998=) c.77-1385T>A (n.77-1385T>A) | |
| 16 | g.51138938A>C | CA395880936 | SALL1 | c.3284T>G (p.Val1095Gly) c.2993T>G (p.Val998Gly) c.77-1386T>G (n.77-1386T>G) | |
| 16 | g.51138938A>G | CA395880938 | SALL1 | c.3284T>C (p.Val1095Ala) c.2993T>C (p.Val998Ala) c.77-1386T>C (n.77-1386T>C) | |
| 16 | g.51138938A>T | CA395880940 | SALL1 | c.3284T>A (p.Val1095Asp) c.2993T>A (p.Val998Asp) c.77-1386T>A (n.77-1386T>A) | |
| 16 | g.51138939C>A | CA395880945 | SALL1 | c.3283G>T (p.Val1095Phe) c.2992G>T (p.Val998Phe) c.77-1387G>T (n.77-1387G>T) | |
| 16 | g.51138939C>G | CA395880942 | SALL1 | c.3283G>C (p.Val1095Leu) c.2992G>C (p.Val998Leu) c.77-1387G>C (n.77-1387G>C) | |
| 16 | g.51138939C>T | CA395880944 | SALL1 | c.3283G>A (p.Val1095Ile) c.2992G>A (p.Val998Ile) c.77-1387G>A (n.77-1387G>A) | |
| 16 | g.51138939_51138940insT | CA2509021118 | SALL1 | c.3282_3283insA (p.Val1095SerfsTer7) c.2991_2992insA (p.Val998SerfsTer7) c.77-1388_77-1387insA (n.77-1388_77-1387insA) | |
| 16 | g.51138940A>C | CA395880947 | SALL1 | c.3282T>G (p.His1094Gln) c.2991T>G (p.His997Gln) c.77-1388T>G (n.77-1388T>G) | |
| 16 | g.51138940A>G | CA495779901 | SALL1 | c.3282T>C (p.His1094=) c.2991T>C (p.His997=) c.77-1388T>C (n.77-1388T>C) | gnomAD v4 COSMIC |
| 16 | g.51138940A>T | CA395880949 | SALL1 | c.3282T>A (p.His1094Gln) c.2991T>A (p.His997Gln) c.77-1388T>A (n.77-1388T>A) | |
| 16 | g.51138941T>A | CA395880952 | SALL1 | c.3281A>T (p.His1094Leu) c.2990A>T (p.His997Leu) c.77-1389A>T (n.77-1389A>T) | |
| 16 | g.51138941T>C | CA395880954 | SALL1 | c.3281A>G (p.His1094Arg) c.2990A>G (p.His997Arg) c.77-1389A>G (n.77-1389A>G) | dbSNP |
| 16 | g.51138941T>G | CA395880956 | SALL1 | c.3281A>C (p.His1094Pro) c.2990A>C (p.His997Pro) c.77-1389A>C (n.77-1389A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138941T= | CA2222017065 | SALL1 | c.3281A= (p.His1094=) c.2990A= (p.His997=) c.77-1389A= (n.77-1389A=) | |
| 16 | g.51138942G>A | CA395880962 | SALL1 | c.3280C>T (p.His1094Tyr) c.2989C>T (p.His997Tyr) c.77-1390C>T (n.77-1390C>T) | |
| 16 | g.51138942G>C | CA395880958 | SALL1 | c.3280C>G (p.His1094Asp) c.2989C>G (p.His997Asp) c.77-1390C>G (n.77-1390C>G) | |
| 16 | g.51138942G>T | CA395880960 | SALL1 | c.3280C>A (p.His1094Asn) c.2989C>A (p.His997Asn) c.77-1390C>A (n.77-1390C>A) | |
| 16 | g.51138943C>A | CA495779903 | SALL1 | c.3279G>T (p.Val1093=) c.2988G>T (p.Val996=) c.77-1391G>T (n.77-1391G>T) | |
| 16 | g.51138943C>G | CA495779904 | SALL1 | c.3279G>C (p.Val1093=) c.2988G>C (p.Val996=) c.77-1391G>C (n.77-1391G>C) | |
| 16 | g.51138943C>T | CA495779905 | SALL1 | c.3279G>A (p.Val1093=) c.2988G>A (p.Val996=) c.77-1391G>A (n.77-1391G>A) | |
| 16 | g.51138944A= | CA2222017067 | SALL1 | c.3278T= (p.Val1093=) c.2987T= (p.Val996=) c.77-1392T= (n.77-1392T=) | |
| 16 | g.51138944A>C | CA281300707 | SALL1 | c.3278T>G (p.Val1093Gly) c.2987T>G (p.Val996Gly) c.77-1392T>G (n.77-1392T>G) | dbSNP gnomAD v4 |
| 16 | g.51138944A>G | CA395880965 | SALL1 | c.3278T>C (p.Val1093Ala) c.2987T>C (p.Val996Ala) c.77-1392T>C (n.77-1392T>C) | dbSNP |
| 16 | g.51138944A>T | CA395880967 | SALL1 | c.3278T>A (p.Val1093Glu) c.2987T>A (p.Val996Glu) c.77-1392T>A (n.77-1392T>A) | |
| 16 | g.51138945C>A | CA395880969 | SALL1 | c.3277G>T (p.Val1093Leu) c.2986G>T (p.Val996Leu) c.77-1393G>T (n.77-1393G>T) | gnomAD v4 |
| 16 | g.51138945C= | CA2222017072 | SALL1 | c.3277G= (p.Val1093=) c.2986G= (p.Val996=) c.77-1393G= (n.77-1393G=) | |
| 16 | g.51138945C>G | CA395880970 | SALL1 | c.3277G>C (p.Val1093Leu) c.2986G>C (p.Val996Leu) c.77-1393G>C (n.77-1393G>C) | dbSNP COSMIC |
| 16 | g.51138945C>T | CA8052960 | SALL1 | c.3277G>A (p.Val1093Met) c.2986G>A (p.Val996Met) c.77-1393G>A (n.77-1393G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138946G>A | CA8052961 | SALL1 | c.3276C>T (p.Phe1092=) c.2985C>T (p.Phe995=) c.77-1394C>T (n.77-1394C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51138946G>C | CA395880974 | SALL1 | c.3276C>G (p.Phe1092Leu) c.2985C>G (p.Phe995Leu) c.77-1394C>G (n.77-1394C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138946G= | CA2222017079 | SALL1 | c.3276C= (p.Phe1092=) c.2985C= (p.Phe995=) c.77-1394C= (n.77-1394C=) | |
| 16 | g.51138946G>T | CA8052962 | SALL1 | c.3276C>A (p.Phe1092Leu) c.2985C>A (p.Phe995Leu) c.77-1394C>A (n.77-1394C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138947A>C | CA395880979 | SALL1 | c.3275T>G (p.Phe1092Cys) c.2984T>G (p.Phe995Cys) c.77-1395T>G (n.77-1395T>G) | COSMIC |
| 16 | g.51138947A>G | CA395880981 | SALL1 | c.3275T>C (p.Phe1092Ser) c.2984T>C (p.Phe995Ser) c.77-1395T>C (n.77-1395T>C) | |
| 16 | g.51138947A>T | CA395880984 | SALL1 | c.3275T>A (p.Phe1092Tyr) c.2984T>A (p.Phe995Tyr) c.77-1395T>A (n.77-1395T>A) | |
| 16 | g.51138948A>C | CA395880989 | SALL1 | c.3274T>G (p.Phe1092Val) c.2983T>G (p.Phe995Val) c.77-1396T>G (n.77-1396T>G) | |
| 16 | g.51138948A>G | CA395880993 | SALL1 | c.3274T>C (p.Phe1092Leu) c.2983T>C (p.Phe995Leu) c.77-1396T>C (n.77-1396T>C) | |
| 16 | g.51138948A>T | CA395880991 | SALL1 | c.3274T>A (p.Phe1092Ile) c.2983T>A (p.Phe995Ile) c.77-1396T>A (n.77-1396T>A) | |
| 16 | g.51138949G>A | CA495779912 | SALL1 | c.3273C>T (p.Gly1091=) c.2982C>T (p.Gly994=) c.77-1397C>T (n.77-1397C>T) | gnomAD v4 |
| 16 | g.51138949G>C | CA495779915 | SALL1 | c.3273C>G (p.Gly1091=) c.2982C>G (p.Gly994=) c.77-1397C>G (n.77-1397C>G) | |
| 16 | g.51138949G>T | CA495779917 | SALL1 | c.3273C>A (p.Gly1091=) c.2982C>A (p.Gly994=) c.77-1397C>A (n.77-1397C>A) | |
| 16 | g.51138950C>A | CA395880995 | SALL1 | c.3272G>T (p.Gly1091Val) c.2981G>T (p.Gly994Val) c.77-1398G>T (n.77-1398G>T) | |
| 16 | g.51138950C>G | CA395881005 | SALL1 | c.3272G>C (p.Gly1091Ala) c.2981G>C (p.Gly994Ala) c.77-1398G>C (n.77-1398G>C) | |
| 16 | g.51138950C>T | CA395881007 | SALL1 | c.3272G>A (p.Gly1091Asp) c.2981G>A (p.Gly994Asp) c.77-1398G>A (n.77-1398G>A) | |
| 16 | g.51138951C>A | CA395881009 | SALL1 | c.3271G>T (p.Gly1091Cys) c.2980G>T (p.Gly994Cys) c.77-1399G>T (n.77-1399G>T) | |
| 16 | g.51138951C= | CA2222017087 | SALL1 | c.3271G= (p.Gly1091=) c.2980G= (p.Gly994=) c.77-1399G= (n.77-1399G=) | |
| 16 | g.51138951C>G | CA395881011 | SALL1 | c.3271G>C (p.Gly1091Arg) c.2980G>C (p.Gly994Arg) c.77-1399G>C (n.77-1399G>C) | |
| 16 | g.51138951C>T | CA8052963 | SALL1 | c.3271G>A (p.Gly1091Ser) c.2980G>A (p.Gly994Ser) c.77-1399G>A (n.77-1399G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138952G>A | CA8052964 | SALL1 | c.3270C>T (p.Asn1090=) c.2979C>T (p.Asn993=) c.77-1400C>T (n.77-1400C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138952G>C | CA395881019 | SALL1 | c.3270C>G (p.Asn1090Lys) c.2979C>G (p.Asn993Lys) c.77-1400C>G (n.77-1400C>G) | |
| 16 | g.51138952G= | CA2222017091 | SALL1 | c.3270C= (p.Asn1090=) c.2979C= (p.Asn993=) c.77-1400C= (n.77-1400C=) | |
| 16 | g.51138952G>T | CA395881021 | SALL1 | c.3270C>A (p.Asn1090Lys) c.2979C>A (p.Asn993Lys) c.77-1400C>A (n.77-1400C>A) | |
| 16 | g.51138953T>A | CA395881022 | SALL1 | c.3269A>T (p.Asn1090Ile) c.2978A>T (p.Asn993Ile) c.77-1401A>T (n.77-1401A>T) | |
| 16 | g.51138953T>C | CA8052965 | SALL1 | c.3269A>G (p.Asn1090Ser) c.2978A>G (p.Asn993Ser) c.77-1401A>G (n.77-1401A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138953T>G | CA395881023 | SALL1 | c.3269A>C (p.Asn1090Thr) c.2978A>C (p.Asn993Thr) c.77-1401A>C (n.77-1401A>C) | |
| 16 | g.51138953T= | CA2222017096 | SALL1 | c.3269A= (p.Asn1090=) c.2978A= (p.Asn993=) c.77-1401A= (n.77-1401A=) | |
| 16 | g.51138954T>A | CA395881026 | SALL1 | c.3268A>T (p.Asn1090Tyr) c.2977A>T (p.Asn993Tyr) c.77-1402A>T (n.77-1402A>T) | |
| 16 | g.51138954T>C | CA395881024 | SALL1 | c.3268A>G (p.Asn1090Asp) c.2977A>G (p.Asn993Asp) c.77-1402A>G (n.77-1402A>G) | gnomAD v4 |
| 16 | g.51138954T>G | CA8052966 | SALL1 | c.3268A>C (p.Asn1090His) c.2977A>C (p.Asn993His) c.77-1402A>C (n.77-1402A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138954T= | CA2222017099 | SALL1 | c.3268A= (p.Asn1090=) c.2977A= (p.Asn993=) c.77-1402A= (n.77-1402A=) | |
| 16 | g.51138955G>A | CA495779922 | SALL1 | c.3267C>T (p.Val1089=) c.2976C>T (p.Val992=) c.77-1403C>T (n.77-1403C>T) | dbSNP |
| 16 | g.51138955G>C | CA495779924 | SALL1 | c.3267C>G (p.Val1089=) c.2976C>G (p.Val992=) c.77-1403C>G (n.77-1403C>G) | |
| 16 | g.51138955G= | CA2222017103 | SALL1 | c.3267C= (p.Val1089=) c.2976C= (p.Val992=) c.77-1403C= (n.77-1403C=) | |
| 16 | g.51138955G>T | CA495779925 | SALL1 | c.3267C>A (p.Val1089=) c.2976C>A (p.Val992=) c.77-1403C>A (n.77-1403C>A) | |
| 16 | g.51138956A= | CA2222017111 | SALL1 | c.3266T= (p.Val1089=) c.2975T= (p.Val992=) c.77-1404T= (n.77-1404T=) | |
| 16 | g.51138956A>C | CA395881029 | SALL1 | c.3266T>G (p.Val1089Gly) c.2975T>G (p.Val992Gly) c.77-1404T>G (n.77-1404T>G) | |
| 16 | g.51138956A>G | CA395881032 | SALL1 | c.3266T>C (p.Val1089Ala) c.2975T>C (p.Val992Ala) c.77-1404T>C (n.77-1404T>C) | dbSNP |
| 16 | g.51138956A>T | CA395881034 | SALL1 | c.3266T>A (p.Val1089Asp) c.2975T>A (p.Val992Asp) c.77-1404T>A (n.77-1404T>A) | |
| 16 | g.51138957C>A | CA395881037 | SALL1 | c.3265G>T (p.Val1089Phe) c.2974G>T (p.Val992Phe) c.77-1405G>T (n.77-1405G>T) | gnomAD v4 |
| 16 | g.51138957C>G | CA395881038 | SALL1 | c.3265G>C (p.Val1089Leu) c.2974G>C (p.Val992Leu) c.77-1405G>C (n.77-1405G>C) | |
| 16 | g.51138957C>T | CA395881039 | SALL1 | c.3265G>A (p.Val1089Ile) c.2974G>A (p.Val992Ile) c.77-1405G>A (n.77-1405G>A) | |
| 16 | g.51138958C>A | CA395881040 | SALL1 | c.3264G>T (p.Glu1088Asp) c.2973G>T (p.Glu991Asp) c.77-1406G>T (n.77-1406G>T) | gnomAD v4 |
| 16 | g.51138958C>G | CA395881041 | SALL1 | c.3264G>C (p.Glu1088Asp) c.2973G>C (p.Glu991Asp) c.77-1406G>C (n.77-1406G>C) | |
| 16 | g.51138958C>T | CA495779928 | SALL1 | c.3264G>A (p.Glu1088=) c.2973G>A (p.Glu991=) c.77-1406G>A (n.77-1406G>A) | gnomAD v4 |
| 16 | g.51138959T>A | CA395881043 | SALL1 | c.3263A>T (p.Glu1088Val) c.2972A>T (p.Glu991Val) c.77-1407A>T (n.77-1407A>T) | |
| 16 | g.51138959T>C | CA395881046 | SALL1 | c.3263A>G (p.Glu1088Gly) c.2972A>G (p.Glu991Gly) c.77-1407A>G (n.77-1407A>G) | |
| 16 | g.51138959T>G | CA395881048 | SALL1 | c.3263A>C (p.Glu1088Ala) c.2972A>C (p.Glu991Ala) c.77-1407A>C (n.77-1407A>C) | |
| 16 | g.51138960C>A | CA395881059 | SALL1 | c.3262G>T (p.Glu1088Ter) c.2971G>T (p.Glu991Ter) c.77-1408G>T (n.77-1408G>T) | |
| 16 | g.51138960C>G | CA395881057 | SALL1 | c.3262G>C (p.Glu1088Gln) c.2971G>C (p.Glu991Gln) c.77-1408G>C (n.77-1408G>C) | |
| 16 | g.51138960C>T | CA395881056 | SALL1 | c.3262G>A (p.Glu1088Lys) c.2971G>A (p.Glu991Lys) c.77-1408G>A (n.77-1408G>A) | COSMIC |
| 16 | g.51138961T>A | CA495779933 | SALL1 | c.3261A>T (p.Thr1087=) c.2970A>T (p.Thr990=) c.77-1409A>T (n.77-1409A>T) | |
| 16 | g.51138961T>C | CA495779932 | SALL1 | c.3261A>G (p.Thr1087=) c.2970A>G (p.Thr990=) c.77-1409A>G (n.77-1409A>G) | gnomAD v4 |
| 16 | g.51138961T>G | CA495779930 | SALL1 | c.3261A>C (p.Thr1087=) c.2970A>C (p.Thr990=) c.77-1409A>C (n.77-1409A>C) | |
| 16 | g.51138962G>A | CA395881063 | SALL1 | c.3260C>T (p.Thr1087Ile) c.2969C>T (p.Thr990Ile) c.77-1410C>T (n.77-1410C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138962G>C | CA395881061 | SALL1 | c.3260C>G (p.Thr1087Arg) c.2969C>G (p.Thr990Arg) c.77-1410C>G (n.77-1410C>G) | |
| 16 | g.51138962G= | CA2222017114 | SALL1 | c.3260C= (p.Thr1087=) c.2969C= (p.Thr990=) c.77-1410C= (n.77-1410C=) | |
| 16 | g.51138962G>T | CA395881065 | SALL1 | c.3260C>A (p.Thr1087Lys) c.2969C>A (p.Thr990Lys) c.77-1410C>A (n.77-1410C>A) | |
| 16 | g.51138963T>A | CA395881067 | SALL1 | c.3259A>T (p.Thr1087Ser) c.2968A>T (p.Thr990Ser) c.77-1411A>T (n.77-1411A>T) | |
| 16 | g.51138963T>C | CA395881072 | SALL1 | c.3259A>G (p.Thr1087Ala) c.2968A>G (p.Thr990Ala) c.77-1411A>G (n.77-1411A>G) | gnomAD v4 COSMIC |
| 16 | g.51138963T>G | CA395881073 | SALL1 | c.3259A>C (p.Thr1087Pro) c.2968A>C (p.Thr990Pro) c.77-1411A>C (n.77-1411A>C) | |
| 16 | g.51138964C>A | CA395881077 | SALL1 | c.3258G>T (p.Lys1086Asn) c.2967G>T (p.Lys989Asn) c.77-1412G>T (n.77-1412G>T) | COSMIC |
| 16 | g.51138964C>G | CA395881079 | SALL1 | c.3258G>C (p.Lys1086Asn) c.2967G>C (p.Lys989Asn) c.77-1412G>C (n.77-1412G>C) | gnomAD v4 |
| 16 | g.51138964C>T | CA495779938 | SALL1 | c.3258G>A (p.Lys1086=) c.2967G>A (p.Lys989=) c.77-1412G>A (n.77-1412G>A) | gnomAD v4 |
| 16 | g.51138965T>A | CA395881081 | SALL1 | c.3257A>T (p.Lys1086Met) c.2966A>T (p.Lys989Met) c.77-1413A>T (n.77-1413A>T) | |
| 16 | g.51138965T>C | CA395881083 | SALL1 | c.3257A>G (p.Lys1086Arg) c.2966A>G (p.Lys989Arg) c.77-1413A>G (n.77-1413A>G) | |
| 16 | g.51138965T>G | CA395881085 | SALL1 | c.3257A>C (p.Lys1086Thr) c.2966A>C (p.Lys989Thr) c.77-1413A>C (n.77-1413A>C) | |
| 16 | g.51138966T>A | CA395881087 | SALL1 | c.3256A>T (p.Lys1086Ter) c.2965A>T (p.Lys989Ter) c.77-1414A>T (n.77-1414A>T) | |
| 16 | g.51138966T>C | CA395881092 | SALL1 | c.3256A>G (p.Lys1086Glu) c.2965A>G (p.Lys989Glu) c.77-1414A>G (n.77-1414A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138966T>G | CA395881094 | SALL1 | c.3256A>C (p.Lys1086Gln) c.2965A>C (p.Lys989Gln) c.77-1414A>C (n.77-1414A>C) | |
| 16 | g.51138966T= | CA2222017121 | SALL1 | c.3256A= (p.Lys1086=) c.2965A= (p.Lys989=) c.77-1414A= (n.77-1414A=) | |
| 16 | g.51138969_51138971del | CA2633181090 | SALL1 | c.3254_3256del (p.Ile1085del) c.2963_2965del (p.Ile988del) c.77-1416_77-1414del (n.77-1416_77-1414del) | gnomAD v4 |
| 16 | g.51138967G>A | CA495779942 | SALL1 | c.3255C>T (p.Ile1085=) c.2964C>T (p.Ile988=) c.77-1415C>T (n.77-1415C>T) | gnomAD v4 |
| 16 | g.51138967G>C | CA395881098 | SALL1 | c.3255C>G (p.Ile1085Met) c.2964C>G (p.Ile988Met) c.77-1415C>G (n.77-1415C>G) | gnomAD v4 |
| 16 | g.51138967G>T | CA495779943 | SALL1 | c.3255C>A (p.Ile1085=) c.2964C>A (p.Ile988=) c.77-1415C>A (n.77-1415C>A) | |
| 16 | g.51138972_51138978del | CA2695223340 | SALL1 | c.3249_3255del (p.Leu1084ArgfsTer?) c.2958_2964del (p.Leu987ArgfsTer?) c.77-1421_77-1415del (n.77-1421_77-1415del) | |
| 16 | g.51138968A>C | CA395881109 | SALL1 | c.3254T>G (p.Ile1085Ser) c.2963T>G (p.Ile988Ser) c.77-1416T>G (n.77-1416T>G) | |
| 16 | g.51138968A>G | CA395881107 | SALL1 | c.3254T>C (p.Ile1085Thr) c.2963T>C (p.Ile988Thr) c.77-1416T>C (n.77-1416T>C) | |
| 16 | g.51138968A>T | CA395881102 | SALL1 | c.3254T>A (p.Ile1085Asn) c.2963T>A (p.Ile988Asn) c.77-1416T>A (n.77-1416T>A) | |
| 16 | g.51138969T>A | CA395881111 | SALL1 | c.3253A>T (p.Ile1085Phe) c.2962A>T (p.Ile988Phe) c.77-1417A>T (n.77-1417A>T) | gnomAD v4 |
| 16 | g.51138969T>C | CA395881121 | SALL1 | c.3253A>G (p.Ile1085Val) c.2962A>G (p.Ile988Val) c.77-1417A>G (n.77-1417A>G) | gnomAD v4 |
| 16 | g.51138969T>G | CA395881125 | SALL1 | c.3253A>C (p.Ile1085Leu) c.2962A>C (p.Ile988Leu) c.77-1417A>C (n.77-1417A>C) | |
| 16 | g.51138970G>A | CA495779944 | SALL1 | c.3252C>T (p.Leu1084=) c.2961C>T (p.Leu987=) c.77-1418C>T (n.77-1418C>T) | |
| 16 | g.51138970G>C | CA495779945 | SALL1 | c.3252C>G (p.Leu1084=) c.2961C>G (p.Leu987=) c.77-1418C>G (n.77-1418C>G) | |
| 16 | g.51138970G>T | CA495779947 | SALL1 | c.3252C>A (p.Leu1084=) c.2961C>A (p.Leu987=) c.77-1418C>A (n.77-1418C>A) | |
| 16 | g.51138971A>C | CA395881127 | SALL1 | c.3251T>G (p.Leu1084Arg) c.2960T>G (p.Leu987Arg) c.77-1419T>G (n.77-1419T>G) | |
| 16 | g.51138971A>G | CA395881130 | SALL1 | c.3251T>C (p.Leu1084Pro) c.2960T>C (p.Leu987Pro) c.77-1419T>C (n.77-1419T>C) | |
| 16 | g.51138971A>T | CA395881132 | SALL1 | c.3251T>A (p.Leu1084His) c.2960T>A (p.Leu987His) c.77-1419T>A (n.77-1419T>A) | |
| 16 | g.51138972G>A | CA395881135 | SALL1 | c.3250C>T (p.Leu1084Phe) c.2959C>T (p.Leu987Phe) c.77-1420C>T (n.77-1420C>T) | gnomAD v4 |
| 16 | g.51138972G>C | CA395881138 | SALL1 | c.3250C>G (p.Leu1084Val) c.2959C>G (p.Leu987Val) c.77-1420C>G (n.77-1420C>G) | gnomAD v4 |
| 16 | g.51138972G>T | CA395881141 | SALL1 | c.3250C>A (p.Leu1084Ile) c.2959C>A (p.Leu987Ile) c.77-1420C>A (n.77-1420C>A) | |
| 16 | g.51138973A>C | CA495779948 | SALL1 | c.3249T>G (p.Ser1083=) c.2958T>G (p.Ser986=) c.77-1421T>G (n.77-1421T>G) | |
| 16 | g.51138973A>G | CA495779949 | SALL1 | c.3249T>C (p.Ser1083=) c.2958T>C (p.Ser986=) c.77-1421T>C (n.77-1421T>C) | |
| 16 | g.51138973A>T | CA495779950 | SALL1 | c.3249T>A (p.Ser1083=) c.2958T>A (p.Ser986=) c.77-1421T>A (n.77-1421T>A) | |
| 16 | g.51138974G>A | CA395881143 | SALL1 | c.3248C>T (p.Ser1083Phe) c.2957C>T (p.Ser986Phe) c.77-1422C>T (n.77-1422C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138974G>C | CA395881146 | SALL1 | c.3248C>G (p.Ser1083Cys) c.2957C>G (p.Ser986Cys) c.77-1422C>G (n.77-1422C>G) | |
| 16 | g.51138974G= | CA2222017125 | SALL1 | c.3248C= (p.Ser1083=) c.2957C= (p.Ser986=) c.77-1422C= (n.77-1422C=) | |
| 16 | g.51138974G>T | CA395881148 | SALL1 | c.3248C>A (p.Ser1083Tyr) c.2957C>A (p.Ser986Tyr) c.77-1422C>A (n.77-1422C>A) | |
| 16 | g.51138975A= | CA2222017130 | SALL1 | c.3247T= (p.Ser1083=) c.2956T= (p.Ser986=) c.77-1423T= (n.77-1423T=) | |
| 16 | g.51138975A>C | CA395881158 | SALL1 | c.3247T>G (p.Ser1083Ala) c.2956T>G (p.Ser986Ala) c.77-1423T>G (n.77-1423T>G) | |
| 16 | g.51138975A>G | CA395881152 | SALL1 | c.3247T>C (p.Ser1083Pro) c.2956T>C (p.Ser986Pro) c.77-1423T>C (n.77-1423T>C) | |
| 16 | g.51138975A>T | CA395881150 | SALL1 | c.3247T>A (p.Ser1083Thr) c.2956T>A (p.Ser986Thr) c.77-1423T>A (n.77-1423T>A) | dbSNP |
| 16 | g.51138976T>A | CA495779954 | SALL1 | c.3246A>T (p.Ser1082=) c.2955A>T (p.Ser985=) c.77-1424A>T (n.77-1424A>T) | |
| 16 | g.51138976T>C | CA495779955 | SALL1 | c.3246A>G (p.Ser1082=) c.2955A>G (p.Ser985=) c.77-1424A>G (n.77-1424A>G) | |
| 16 | g.51138976T>G | CA495779956 | SALL1 | c.3246A>C (p.Ser1082=) c.2955A>C (p.Ser985=) c.77-1424A>C (n.77-1424A>C) | |
| 16 | g.51138977G>A | CA8052967 | SALL1 | c.3245C>T (p.Ser1082Leu) c.2954C>T (p.Ser985Leu) c.77-1425C>T (n.77-1425C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138977G>C | CA395881162 | SALL1 | c.3245C>G (p.Ser1082Ter) c.2954C>G (p.Ser985Ter) c.77-1425C>G (n.77-1425C>G) | |
| 16 | g.51138977G= | CA2222017133 | SALL1 | c.3245C= (p.Ser1082=) c.2954C= (p.Ser985=) c.77-1425C= (n.77-1425C=) | |
| 16 | g.51138977G>T | CA395881165 | SALL1 | c.3245C>A (p.Ser1082Ter) c.2954C>A (p.Ser985Ter) c.77-1425C>A (n.77-1425C>A) | |
| 16 | g.51138977_51138980delinsGACA | CA2222017136 | SALL1 | c.3242_3245delinsTGTC (p.Leu1081=) c.2951_2954delinsTGTC (p.Leu984=) c.77-1428_77-1425delinsTGTC (n.77-1428_77-1425delinsTGTC) | |
| 16 | g.51138978A>C | CA395881167 | SALL1 | c.3244T>G (p.Ser1082Ala) c.2953T>G (p.Ser985Ala) c.77-1426T>G (n.77-1426T>G) | |
| 16 | g.51138978A>G | CA395881168 | SALL1 | c.3244T>C (p.Ser1082Pro) c.2953T>C (p.Ser985Pro) c.77-1426T>C (n.77-1426T>C) | |
| 16 | g.51138978A>T | CA395881170 | SALL1 | c.3244T>A (p.Ser1082Thr) c.2953T>A (p.Ser985Thr) c.77-1426T>A (n.77-1426T>A) | |
| 16 | g.51138980_51138982del | CA622654493 | SALL1 | c.3242_3244del (p.Leu1081del) c.2951_2953del (p.Leu984del) c.77-1428_77-1426del (n.77-1428_77-1426del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138979C>A | CA395881180 | SALL1 | c.3243G>T (p.Leu1081Phe) c.2952G>T (p.Leu984Phe) c.77-1427G>T (n.77-1427G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138979C= | CA2222017144 | SALL1 | c.3243G= (p.Leu1081=) c.2952G= (p.Leu984=) c.77-1427G= (n.77-1427G=) | |
| 16 | g.51138979C>G | CA395881179 | SALL1 | c.3243G>C (p.Leu1081Phe) c.2952G>C (p.Leu984Phe) c.77-1427G>C (n.77-1427G>C) | |
| 16 | g.51138979C>T | CA495779958 | SALL1 | c.3243G>A (p.Leu1081=) c.2952G>A (p.Leu984=) c.77-1427G>A (n.77-1427G>A) | |
| 16 | g.51138980A= | CA2222017150 | SALL1 | c.3242T= (p.Leu1081=) c.2951T= (p.Leu984=) c.77-1428T= (n.77-1428T=) | |
| 16 | g.51138980A>C | CA395881182 | SALL1 | c.3242T>G (p.Leu1081Trp) c.2951T>G (p.Leu984Trp) c.77-1428T>G (n.77-1428T>G) | |
| 16 | g.51138980A>G | CA395881184 | SALL1 | c.3242T>C (p.Leu1081Ser) c.2951T>C (p.Leu984Ser) c.77-1428T>C (n.77-1428T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138980A>T | CA395881186 | SALL1 | c.3242T>A (p.Leu1081Ter) c.2951T>A (p.Leu984Ter) c.77-1428T>A (n.77-1428T>A) | |
| 16 | g.51138981A>C | CA395881188 | SALL1 | c.3241T>G (p.Leu1081Val) c.2950T>G (p.Leu984Val) c.77-1429T>G (n.77-1429T>G) | |
| 16 | g.51138981A>G | CA495779961 | SALL1 | c.3241T>C (p.Leu1081=) c.2950T>C (p.Leu984=) c.77-1429T>C (n.77-1429T>C) | |
| 16 | g.51138981A>T | CA395881191 | SALL1 | c.3241T>A (p.Leu1081Met) c.2950T>A (p.Leu984Met) c.77-1429T>A (n.77-1429T>A) | |
| 16 | g.51138982C>A | CA495779963 | SALL1 | c.3240G>T (p.Ser1080=) c.2949G>T (p.Ser983=) c.77-1430G>T (n.77-1430G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138982C= | CA2222017155 | SALL1 | c.3240G= (p.Ser1080=) c.2949G= (p.Ser983=) c.77-1430G= (n.77-1430G=) | |
| 16 | g.51138982C>G | CA495779962 | SALL1 | c.3240G>C (p.Ser1080=) c.2949G>C (p.Ser983=) c.77-1430G>C (n.77-1430G>C) | |
| 16 | g.51138982C>T | CA8052968 | SALL1 | c.3240G>A (p.Ser1080=) c.2949G>A (p.Ser983=) c.77-1430G>A (n.77-1430G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138983G>A | CA8052969 | SALL1 | c.3239C>T (p.Ser1080Leu) c.2948C>T (p.Ser983Leu) c.77-1431C>T (n.77-1431C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138983G>C | CA395881200 | SALL1 | c.3239C>G (p.Ser1080Trp) c.2948C>G (p.Ser983Trp) c.77-1431C>G (n.77-1431C>G) | |
| 16 | g.51138983G= | CA2222017163 | SALL1 | c.3239C= (p.Ser1080=) c.2948C= (p.Ser983=) c.77-1431C= (n.77-1431C=) | |
| 16 | g.51138983G>T | CA395881197 | SALL1 | c.3239C>A (p.Ser1080Ter) c.2948C>A (p.Ser983Ter) c.77-1431C>A (n.77-1431C>A) | |
| 16 | g.51138984A= | CA2222017169 | SALL1 | c.3238T= (p.Ser1080=) c.2947T= (p.Ser983=) c.77-1432T= (n.77-1432T=) | |
| 16 | g.51138984A>C | CA395881202 | SALL1 | c.3238T>G (p.Ser1080Ala) c.2947T>G (p.Ser983Ala) c.77-1432T>G (n.77-1432T>G) | |
| 16 | g.51138984A>G | CA8052970 | SALL1 | c.3238T>C (p.Ser1080Pro) c.2947T>C (p.Ser983Pro) c.77-1432T>C (n.77-1432T>C) | dbSNP ExAC gnomAD v2 |
| 16 | g.51138984A>T | CA395881205 | SALL1 | c.3238T>A (p.Ser1080Thr) c.2947T>A (p.Ser983Thr) c.77-1432T>A (n.77-1432T>A) | |
| 16 | g.51138985G>A | CA495779965 | SALL1 | c.3237C>T (p.Asn1079=) c.2946C>T (p.Asn982=) c.77-1433C>T (n.77-1433C>T) | dbSNP |
| 16 | g.51138985G>C | CA395881208 | SALL1 | c.3237C>G (p.Asn1079Lys) c.2946C>G (p.Asn982Lys) c.77-1433C>G (n.77-1433C>G) | |
| 16 | g.51138985G= | CA2222017176 | SALL1 | c.3237C= (p.Asn1079=) c.2946C= (p.Asn982=) c.77-1433C= (n.77-1433C=) | |
| 16 | g.51138985G>T | CA395881209 | SALL1 | c.3237C>A (p.Asn1079Lys) c.2946C>A (p.Asn982Lys) c.77-1433C>A (n.77-1433C>A) | |
| 16 | g.51138986T>A | CA395881214 | SALL1 | c.3236A>T (p.Asn1079Ile) c.2945A>T (p.Asn982Ile) c.77-1434A>T (n.77-1434A>T) | |
| 16 | g.51138986T>C | CA395881215 | SALL1 | c.3236A>G (p.Asn1079Ser) c.2945A>G (p.Asn982Ser) c.77-1434A>G (n.77-1434A>G) | |
| 16 | g.51138986T>G | CA395881216 | SALL1 | c.3236A>C (p.Asn1079Thr) c.2945A>C (p.Asn982Thr) c.77-1434A>C (n.77-1434A>C) | gnomAD v4 |
| 16 | g.51138987T>A | CA395881220 | SALL1 | c.3235A>T (p.Asn1079Tyr) c.2944A>T (p.Asn982Tyr) c.77-1435A>T (n.77-1435A>T) | |
| 16 | g.51138987T>C | CA395881221 | SALL1 | c.3235A>G (p.Asn1079Asp) c.2944A>G (p.Asn982Asp) c.77-1435A>G (n.77-1435A>G) | |
| 16 | g.51138987T>G | CA395881224 | SALL1 | c.3235A>C (p.Asn1079His) c.2944A>C (p.Asn982His) c.77-1435A>C (n.77-1435A>C) | |
| 16 | g.51138988G>A | CA495779968 | SALL1 | c.3234C>T (p.Ala1078=) c.2943C>T (p.Ala981=) c.77-1436C>T (n.77-1436C>T) | |
| 16 | g.51138988G>C | CA495779966 | SALL1 | c.3234C>G (p.Ala1078=) c.2943C>G (p.Ala981=) c.77-1436C>G (n.77-1436C>G) | |
| 16 | g.51138988G>T | CA495779967 | SALL1 | c.3234C>A (p.Ala1078=) c.2943C>A (p.Ala981=) c.77-1436C>A (n.77-1436C>A) | |
| 16 | g.51138989G>A | CA395881229 | SALL1 | c.3233C>T (p.Ala1078Val) c.2942C>T (p.Ala981Val) c.77-1437C>T (n.77-1437C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138989G>C | CA395881232 | SALL1 | c.3233C>G (p.Ala1078Gly) c.2942C>G (p.Ala981Gly) c.77-1437C>G (n.77-1437C>G) | |
| 16 | g.51138989G= | CA2222017180 | SALL1 | c.3233C= (p.Ala1078=) c.2942C= (p.Ala981=) c.77-1437C= (n.77-1437C=) | |
| 16 | g.51138989G>T | CA395881226 | SALL1 | c.3233C>A (p.Ala1078Asp) c.2942C>A (p.Ala981Asp) c.77-1437C>A (n.77-1437C>A) | |
| 16 | g.51138990C>A | CA395881234 | SALL1 | c.3232G>T (p.Ala1078Ser) c.2941G>T (p.Ala981Ser) c.77-1438G>T (n.77-1438G>T) | |
| 16 | g.51138990C= | CA2222017187 | SALL1 | c.3232G= (p.Ala1078=) c.2941G= (p.Ala981=) c.77-1438G= (n.77-1438G=) | |
| 16 | g.51138990C>G | CA395881237 | SALL1 | c.3232G>C (p.Ala1078Pro) c.2941G>C (p.Ala981Pro) c.77-1438G>C (n.77-1438G>C) | |
| 16 | g.51138990C>T | CA8052971 | SALL1 | c.3232G>A (p.Ala1078Thr) c.2941G>A (p.Ala981Thr) c.77-1438G>A (n.77-1438G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138991G>A | CA8052972 | SALL1 | c.3231C>T (p.Pro1077=) c.2940C>T (p.Pro980=) c.77-1439C>T (n.77-1439C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138991G>C | CA495779970 | SALL1 | c.3231C>G (p.Pro1077=) c.2940C>G (p.Pro980=) c.77-1439C>G (n.77-1439C>G) | |
| 16 | g.51138991G= | CA2222017191 | SALL1 | c.3231C= (p.Pro1077=) c.2940C= (p.Pro980=) c.77-1439C= (n.77-1439C=) | |
| 16 | g.51138991G>T | CA495779971 | SALL1 | c.3231C>A (p.Pro1077=) c.2940C>A (p.Pro980=) c.77-1439C>A (n.77-1439C>A) | |
| 16 | g.51138992G>A | CA395881241 | SALL1 | c.3230C>T (p.Pro1077Leu) c.2939C>T (p.Pro980Leu) c.77-1440C>T (n.77-1440C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138992G>C | CA395881243 | SALL1 | c.3230C>G (p.Pro1077Arg) c.2939C>G (p.Pro980Arg) c.77-1440C>G (n.77-1440C>G) | |
| 16 | g.51138992G= | CA2222017199 | SALL1 | c.3230C= (p.Pro1077=) c.2939C= (p.Pro980=) c.77-1440C= (n.77-1440C=) | |
| 16 | g.51138992G>T | CA395881244 | SALL1 | c.3230C>A (p.Pro1077His) c.2939C>A (p.Pro980His) c.77-1440C>A (n.77-1440C>A) | gnomAD v4 |
| 16 | g.51138992_51138993delinsAT | CA645592646 | SALL1 | c.3229_3230delinsAT (p.Pro1077Ile) c.2938_2939delinsAT (p.Pro980Ile) c.77-1441_77-1440delinsAT (n.77-1441_77-1440delinsAT) | COSMIC |
| 16 | g.51138993G>A | CA395881248 | SALL1 | c.3229C>T (p.Pro1077Ser) c.2938C>T (p.Pro980Ser) c.77-1441C>T (n.77-1441C>T) | COSMIC |
| 16 | g.51138993G>C | CA395881252 | SALL1 | c.3229C>G (p.Pro1077Ala) c.2938C>G (p.Pro980Ala) c.77-1441C>G (n.77-1441C>G) | |
| 16 | g.51138993G>T | CA395881253 | SALL1 | c.3229C>A (p.Pro1077Thr) c.2938C>A (p.Pro980Thr) c.77-1441C>A (n.77-1441C>A) | |
| 16 | g.51138994A>C | CA395881256 | SALL1 | c.3228T>G (p.Ile1076Met) c.2937T>G (p.Ile979Met) c.77-1442T>G (n.77-1442T>G) | |
| 16 | g.51138994A>G | CA495779973 | SALL1 | c.3228T>C (p.Ile1076=) c.2937T>C (p.Ile979=) c.77-1442T>C (n.77-1442T>C) | |
| 16 | g.51138994A>T | CA495779975 | SALL1 | c.3228T>A (p.Ile1076=) c.2937T>A (p.Ile979=) c.77-1442T>A (n.77-1442T>A) |