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.51138787_51138789del | CA2222016726 | SALL1 | c.3435_3437del (p.Ser1146del) c.3144_3146del (p.Ser1049del) c.77-1235_77-1233del (n.77-1235_77-1233del) | dbSNP |
| 16 | g.51138787_51138790delinsTGAG | CA2222016734 | SALL1 | c.3432_3435delinsCTCA (p.Ser1144=) c.3141_3144delinsCTCA (p.Ser1047=) c.77-1238_77-1235delinsCTCA (n.77-1238_77-1235delinsCTCA) | |
| 16 | g.51138791_51138793del | CA721413542 | SALL1 | c.3432_3434del (p.Ser1145del) c.3141_3143del (p.Ser1048del) c.77-1238_77-1236del (n.77-1238_77-1236del) | dbSNP |
| 16 | g.51138789A>C | CA395878739 | SALL1 | c.3433T>G (p.Ser1145Ala) c.3142T>G (p.Ser1048Ala) c.77-1237T>G (n.77-1237T>G) | |
| 16 | g.51138789A>G | CA395878741 | SALL1 | c.3433T>C (p.Ser1145Pro) c.3142T>C (p.Ser1048Pro) c.77-1237T>C (n.77-1237T>C) | |
| 16 | g.51138789A>T | CA395878740 | SALL1 | c.3433T>A (p.Ser1145Thr) c.3142T>A (p.Ser1048Thr) c.77-1237T>A (n.77-1237T>A) | |
| 16 | g.51138790G>A | CA495479500 | SALL1 | c.3432C>T (p.Ser1144=) c.3141C>T (p.Ser1047=) c.77-1238C>T (n.77-1238C>T) | |
| 16 | g.51138790G>C | CA495479501 | SALL1 | c.3432C>G (p.Ser1144=) c.3141C>G (p.Ser1047=) c.77-1238C>G (n.77-1238C>G) | |
| 16 | g.51138790G>T | CA495479502 | SALL1 | c.3432C>A (p.Ser1144=) c.3141C>A (p.Ser1047=) c.77-1238C>A (n.77-1238C>A) | |
| 16 | g.51138791G>A | CA395878742 | SALL1 | c.3431C>T (p.Ser1144Phe) c.3140C>T (p.Ser1047Phe) c.77-1239C>T (n.77-1239C>T) | gnomAD v4 COSMIC |
| 16 | g.51138791G>C | CA395878743 | SALL1 | c.3431C>G (p.Ser1144Cys) c.3140C>G (p.Ser1047Cys) c.77-1239C>G (n.77-1239C>G) | |
| 16 | g.51138791G>T | CA395878744 | SALL1 | c.3431C>A (p.Ser1144Tyr) c.3140C>A (p.Ser1047Tyr) c.77-1239C>A (n.77-1239C>A) | |
| 16 | g.51138792A>C | CA395878745 | SALL1 | c.3430T>G (p.Ser1144Ala) c.3139T>G (p.Ser1047Ala) c.77-1240T>G (n.77-1240T>G) | |
| 16 | g.51138792A>G | CA395878746 | SALL1 | c.3430T>C (p.Ser1144Pro) c.3139T>C (p.Ser1047Pro) c.77-1240T>C (n.77-1240T>C) | |
| 16 | g.51138792A>T | CA395878747 | SALL1 | c.3430T>A (p.Ser1144Thr) c.3139T>A (p.Ser1047Thr) c.77-1240T>A (n.77-1240T>A) | |
| 16 | g.51138794_51138796del | CA2633181089 | SALL1 | c.3428_3430del (p.Phe1143del) c.3137_3139del (p.Phe1046del) c.77-1242_77-1240del (n.77-1242_77-1240del) | gnomAD v4 |
| 16 | g.51138793G>A | CA495479506 | SALL1 | c.3429C>T (p.Phe1143=) c.3138C>T (p.Phe1046=) c.77-1241C>T (n.77-1241C>T) | |
| 16 | g.51138793G>C | CA395878748 | SALL1 | c.3429C>G (p.Phe1143Leu) c.3138C>G (p.Phe1046Leu) c.77-1241C>G (n.77-1241C>G) | |
| 16 | g.51138793G>T | CA395878749 | SALL1 | c.3429C>A (p.Phe1143Leu) c.3138C>A (p.Phe1046Leu) c.77-1241C>A (n.77-1241C>A) | |
| 16 | g.51138794A>C | CA395878750 | SALL1 | c.3428T>G (p.Phe1143Cys) c.3137T>G (p.Phe1046Cys) c.77-1242T>G (n.77-1242T>G) | |
| 16 | g.51138794A>G | CA395878751 | SALL1 | c.3428T>C (p.Phe1143Ser) c.3137T>C (p.Phe1046Ser) c.77-1242T>C (n.77-1242T>C) | gnomAD v4 |
| 16 | g.51138794A>T | CA395878752 | SALL1 | c.3428T>A (p.Phe1143Tyr) c.3137T>A (p.Phe1046Tyr) c.77-1242T>A (n.77-1242T>A) | |
| 16 | g.51138795A>C | CA395878755 | SALL1 | c.3427T>G (p.Phe1143Val) c.3136T>G (p.Phe1046Val) c.77-1243T>G (n.77-1243T>G) | |
| 16 | g.51138795A>G | CA395878754 | SALL1 | c.3427T>C (p.Phe1143Leu) c.3136T>C (p.Phe1046Leu) c.77-1243T>C (n.77-1243T>C) | |
| 16 | g.51138795A>T | CA395878753 | SALL1 | c.3427T>A (p.Phe1143Ile) c.3136T>A (p.Phe1046Ile) c.77-1243T>A (n.77-1243T>A) | gnomAD v4 |
| 16 | g.51138796G>A | CA495479513 | SALL1 | c.3426C>T (p.Thr1142=) c.3135C>T (p.Thr1045=) c.77-1244C>T (n.77-1244C>T) | COSMIC |
| 16 | g.51138796G>C | CA495479515 | SALL1 | c.3426C>G (p.Thr1142=) c.3135C>G (p.Thr1045=) c.77-1244C>G (n.77-1244C>G) | COSMIC |
| 16 | g.51138796G>T | CA495479516 | SALL1 | c.3426C>A (p.Thr1142=) c.3135C>A (p.Thr1045=) c.77-1244C>A (n.77-1244C>A) | COSMIC |
| 16 | g.51138797G>A | CA395878756 | SALL1 | c.3425C>T (p.Thr1142Ile) c.3134C>T (p.Thr1045Ile) c.77-1245C>T (n.77-1245C>T) | gnomAD v4 |
| 16 | g.51138797G>C | CA395878757 | SALL1 | c.3425C>G (p.Thr1142Ser) c.3134C>G (p.Thr1045Ser) c.77-1245C>G (n.77-1245C>G) | |
| 16 | g.51138797G>T | CA395878758 | SALL1 | c.3425C>A (p.Thr1142Asn) c.3134C>A (p.Thr1045Asn) c.77-1245C>A (n.77-1245C>A) | |
| 16 | g.51138798T>A | CA395878759 | SALL1 | c.3424A>T (p.Thr1142Ser) c.3133A>T (p.Thr1045Ser) c.77-1246A>T (n.77-1246A>T) | |
| 16 | g.51138798T>C | CA10637942 | SALL1 | c.3424A>G (p.Thr1142Ala) c.3133A>G (p.Thr1045Ala) c.77-1246A>G (n.77-1246A>G) | dbSNP |
| 16 | g.51138798T>G | CA395878760 | SALL1 | c.3424A>C (p.Thr1142Pro) c.3133A>C (p.Thr1045Pro) c.77-1246A>C (n.77-1246A>C) | |
| 16 | g.51138798T= | CA2222016742 | SALL1 | c.3424A= (p.Thr1142=) c.3133A= (p.Thr1045=) c.77-1246A= (n.77-1246A=) | |
| 16 | g.51138799T>A | CA395878761 | SALL1 | c.3423A>T (p.Lys1141Asn) c.3132A>T (p.Lys1044Asn) c.77-1247A>T (n.77-1247A>T) | |
| 16 | g.51138799T>C | CA495479522 | SALL1 | c.3423A>G (p.Lys1141=) c.3132A>G (p.Lys1044=) c.77-1247A>G (n.77-1247A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138799T>G | CA395878762 | SALL1 | c.3423A>C (p.Lys1141Asn) c.3132A>C (p.Lys1044Asn) c.77-1247A>C (n.77-1247A>C) | |
| 16 | g.51138799T= | CA2222016751 | SALL1 | c.3423A= (p.Lys1141=) c.3132A= (p.Lys1044=) c.77-1247A= (n.77-1247A=) | |
| 16 | g.51138800T>A | CA395878763 | SALL1 | c.3422A>T (p.Lys1141Ile) c.3131A>T (p.Lys1044Ile) c.77-1248A>T (n.77-1248A>T) | |
| 16 | g.51138800T>C | CA395878765 | SALL1 | c.3422A>G (p.Lys1141Arg) c.3131A>G (p.Lys1044Arg) c.77-1248A>G (n.77-1248A>G) | |
| 16 | g.51138800T>G | CA395878764 | SALL1 | c.3422A>C (p.Lys1141Thr) c.3131A>C (p.Lys1044Thr) c.77-1248A>C (n.77-1248A>C) | dbSNP |
| 16 | g.51138800T= | CA2222016755 | SALL1 | c.3422A= (p.Lys1141=) c.3131A= (p.Lys1044=) c.77-1248A= (n.77-1248A=) | |
| 16 | g.51138801T>A | CA395878766 | SALL1 | c.3421A>T (p.Lys1141Ter) c.3130A>T (p.Lys1044Ter) c.77-1249A>T (n.77-1249A>T) | |
| 16 | g.51138801T>C | CA395878767 | SALL1 | c.3421A>G (p.Lys1141Glu) c.3130A>G (p.Lys1044Glu) c.77-1249A>G (n.77-1249A>G) | |
| 16 | g.51138801T>G | CA395878768 | SALL1 | c.3421A>C (p.Lys1141Gln) c.3130A>C (p.Lys1044Gln) c.77-1249A>C (n.77-1249A>C) | |
| 16 | g.51138802G>A | CA495479528 | SALL1 | c.3420C>T (p.Gly1140=) c.3129C>T (p.Gly1043=) c.77-1250C>T (n.77-1250C>T) | gnomAD v4 |
| 16 | g.51138802G>C | CA495479530 | SALL1 | c.3420C>G (p.Gly1140=) c.3129C>G (p.Gly1043=) c.77-1250C>G (n.77-1250C>G) | gnomAD v4 |
| 16 | g.51138802G= | CA2222016761 | SALL1 | c.3420C= (p.Gly1140=) c.3129C= (p.Gly1043=) c.77-1250C= (n.77-1250C=) | |
| 16 | g.51138802G>T | CA8052929 | SALL1 | c.3420C>A (p.Gly1140=) c.3129C>A (p.Gly1043=) c.77-1250C>A (n.77-1250C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138803C>A | CA395878769 | SALL1 | c.3419G>T (p.Gly1140Val) c.3128G>T (p.Gly1043Val) c.77-1251G>T (n.77-1251G>T) | |
| 16 | g.51138803C>G | CA395878771 | SALL1 | c.3419G>C (p.Gly1140Ala) c.3128G>C (p.Gly1043Ala) c.77-1251G>C (n.77-1251G>C) | |
| 16 | g.51138803C>T | CA395878770 | SALL1 | c.3419G>A (p.Gly1140Asp) c.3128G>A (p.Gly1043Asp) c.77-1251G>A (n.77-1251G>A) | |
| 16 | g.51138804C>A | CA395878772 | SALL1 | c.3418G>T (p.Gly1140Cys) c.3127G>T (p.Gly1043Cys) c.77-1252G>T (n.77-1252G>T) | |
| 16 | g.51138804C>G | CA395878773 | SALL1 | c.3418G>C (p.Gly1140Arg) c.3127G>C (p.Gly1043Arg) c.77-1252G>C (n.77-1252G>C) | |
| 16 | g.51138804C>T | CA395878774 | SALL1 | c.3418G>A (p.Gly1140Ser) c.3127G>A (p.Gly1043Ser) c.77-1252G>A (n.77-1252G>A) | |
| 16 | g.51138805A= | CA2222016767 | SALL1 | c.3417T= (p.Cys1139=) c.3126T= (p.Cys1042=) c.77-1253T= (n.77-1253T=) | |
| 16 | g.51138805A>C | CA395878775 | SALL1 | c.3417T>G (p.Cys1139Trp) c.3126T>G (p.Cys1042Trp) c.77-1253T>G (n.77-1253T>G) | |
| 16 | g.51138805A>G | CA8052930 | SALL1 | c.3417T>C (p.Cys1139=) c.3126T>C (p.Cys1042=) c.77-1253T>C (n.77-1253T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138805A>T | CA395878776 | SALL1 | c.3417T>A (p.Cys1139Ter) c.3126T>A (p.Cys1042Ter) c.77-1253T>A (n.77-1253T>A) | |
| 16 | g.51138806del | CA2575992066 | SALL1 | c.3416del (p.Cys1139LeufsTer?) c.3125del (p.Cys1042LeufsTer?) c.77-1254del (n.77-1254del) | |
| 16 | g.51138806C>A | CA395878777 | SALL1 | c.3416G>T (p.Cys1139Phe) c.3125G>T (p.Cys1042Phe) c.77-1254G>T (n.77-1254G>T) | |
| 16 | g.51138806C>G | CA395878778 | SALL1 | c.3416G>C (p.Cys1139Ser) c.3125G>C (p.Cys1042Ser) c.77-1254G>C (n.77-1254G>C) | |
| 16 | g.51138806C>T | CA395878779 | SALL1 | c.3416G>A (p.Cys1139Tyr) c.3125G>A (p.Cys1042Tyr) c.77-1254G>A (n.77-1254G>A) | gnomAD v4 |
| 16 | g.51138806_51138808delinsCAT | CA2222016771 | SALL1 | c.3414_3416delinsATG (p.Thr1138=) c.3123_3125delinsATG (p.Thr1041=) c.77-1256_77-1254delinsATG (n.77-1256_77-1254delinsATG) | |
| 16 | g.51138807A>C | CA395878780 | SALL1 | c.3415T>G (p.Cys1139Gly) c.3124T>G (p.Cys1042Gly) c.77-1255T>G (n.77-1255T>G) | |
| 16 | g.51138807A>G | CA395878781 | SALL1 | c.3415T>C (p.Cys1139Arg) c.3124T>C (p.Cys1042Arg) c.77-1255T>C (n.77-1255T>C) | |
| 16 | g.51138807A>T | CA395878782 | SALL1 | c.3415T>A (p.Cys1139Ser) c.3124T>A (p.Cys1042Ser) c.77-1255T>A (n.77-1255T>A) | |
| 16 | g.51138807_51138808del | CA16620210 | SALL1 | c.3414_3415del (p.Cys1139TrpfsTer?) c.3123_3124del (p.Cys1042TrpfsTer?) c.77-1256_77-1255del (n.77-1256_77-1255del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138808T>A | CA495479544 | SALL1 | c.3414A>T (p.Thr1138=) c.3123A>T (p.Thr1041=) c.77-1256A>T (n.77-1256A>T) | gnomAD v4 |
| 16 | g.51138808T>C | CA495479545 | SALL1 | c.3414A>G (p.Thr1138=) c.3123A>G (p.Thr1041=) c.77-1256A>G (n.77-1256A>G) | |
| 16 | g.51138808T>G | CA495479547 | SALL1 | c.3414A>C (p.Thr1138=) c.3123A>C (p.Thr1041=) c.77-1256A>C (n.77-1256A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138808T= | CA2222016782 | SALL1 | c.3414A= (p.Thr1138=) c.3123A= (p.Thr1041=) c.77-1256A= (n.77-1256A=) | |
| 16 | g.51138809G>A | CA395878783 | SALL1 | c.3413C>T (p.Thr1138Ile) c.3122C>T (p.Thr1041Ile) c.77-1257C>T (n.77-1257C>T) | |
| 16 | g.51138809G>C | CA395878785 | SALL1 | c.3413C>G (p.Thr1138Arg) c.3122C>G (p.Thr1041Arg) c.77-1257C>G (n.77-1257C>G) | |
| 16 | g.51138809G>T | CA395878784 | SALL1 | c.3413C>A (p.Thr1138Lys) c.3122C>A (p.Thr1041Lys) c.77-1257C>A (n.77-1257C>A) | |
| 16 | g.51138810T>A | CA395878786 | SALL1 | c.3412A>T (p.Thr1138Ser) c.3121A>T (p.Thr1041Ser) c.77-1258A>T (n.77-1258A>T) | |
| 16 | g.51138810T>C | CA395878787 | SALL1 | c.3412A>G (p.Thr1138Ala) c.3121A>G (p.Thr1041Ala) c.77-1258A>G (n.77-1258A>G) | gnomAD v4 |
| 16 | g.51138810T>G | CA395878788 | SALL1 | c.3412A>C (p.Thr1138Pro) c.3121A>C (p.Thr1041Pro) c.77-1258A>C (n.77-1258A>C) | |
| 16 | g.51138811G>A | CA495479553 | SALL1 | c.3411C>T (p.Asn1137=) c.3120C>T (p.Asn1040=) c.77-1259C>T (n.77-1259C>T) | |
| 16 | g.51138811G>C | CA395878789 | SALL1 | c.3411C>G (p.Asn1137Lys) c.3120C>G (p.Asn1040Lys) c.77-1259C>G (n.77-1259C>G) | dbSNP |
| 16 | g.51138811G= | CA2222016790 | SALL1 | c.3411C= (p.Asn1137=) c.3120C= (p.Asn1040=) c.77-1259C= (n.77-1259C=) | |
| 16 | g.51138811G>T | CA395878790 | SALL1 | c.3411C>A (p.Asn1137Lys) c.3120C>A (p.Asn1040Lys) c.77-1259C>A (n.77-1259C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138812T>A | CA395880257 | SALL1 | c.3410A>T (p.Asn1137Ile) c.3119A>T (p.Asn1040Ile) c.77-1260A>T (n.77-1260A>T) | |
| 16 | g.51138812T>C | CA395880259 | SALL1 | c.3410A>G (p.Asn1137Ser) c.3119A>G (p.Asn1040Ser) c.77-1260A>G (n.77-1260A>G) | |
| 16 | g.51138812T>G | CA395880262 | SALL1 | c.3410A>C (p.Asn1137Thr) c.3119A>C (p.Asn1040Thr) c.77-1260A>C (n.77-1260A>C) | |
| 16 | g.51138813T>A | CA395880266 | SALL1 | c.3409A>T (p.Asn1137Tyr) c.3118A>T (p.Asn1040Tyr) c.77-1261A>T (n.77-1261A>T) | |
| 16 | g.51138813T>C | CA395880268 | SALL1 | c.3409A>G (p.Asn1137Asp) c.3118A>G (p.Asn1040Asp) c.77-1261A>G (n.77-1261A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138813T>G | CA395880270 | SALL1 | c.3409A>C (p.Asn1137His) c.3118A>C (p.Asn1040His) c.77-1261A>C (n.77-1261A>C) | |
| 16 | g.51138813T= | CA2222016794 | SALL1 | c.3409A= (p.Asn1137=) c.3118A= (p.Asn1040=) c.77-1261A= (n.77-1261A=) | |
| 16 | g.51138814G>A | CA495779742 | SALL1 | c.3408C>T (p.Cys1136=) c.3117C>T (p.Cys1039=) c.77-1262C>T (n.77-1262C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138814G>C | CA395880273 | SALL1 | c.3408C>G (p.Cys1136Trp) c.3117C>G (p.Cys1039Trp) c.77-1262C>G (n.77-1262C>G) | |
| 16 | g.51138814G= | CA2222016799 | SALL1 | c.3408C= (p.Cys1136=) c.3117C= (p.Cys1039=) c.77-1262C= (n.77-1262C=) | |
| 16 | g.51138814G>T | CA395880276 | SALL1 | c.3408C>A (p.Cys1136Ter) c.3117C>A (p.Cys1039Ter) c.77-1262C>A (n.77-1262C>A) | COSMIC |
| 16 | g.51138815C>A | CA395880280 | SALL1 | c.3407G>T (p.Cys1136Phe) c.3116G>T (p.Cys1039Phe) c.77-1263G>T (n.77-1263G>T) | |
| 16 | g.51138815C>G | CA395880284 | SALL1 | c.3407G>C (p.Cys1136Ser) c.3116G>C (p.Cys1039Ser) c.77-1263G>C (n.77-1263G>C) | |
| 16 | g.51138815C>T | CA395880282 | SALL1 | c.3407G>A (p.Cys1136Tyr) c.3116G>A (p.Cys1039Tyr) c.77-1263G>A (n.77-1263G>A) | |
| 16 | g.51138816A>C | CA395880288 | SALL1 | c.3406T>G (p.Cys1136Gly) c.3115T>G (p.Cys1039Gly) c.77-1264T>G (n.77-1264T>G) | |
| 16 | g.51138816A>G | CA395880290 | SALL1 | c.3406T>C (p.Cys1136Arg) c.3115T>C (p.Cys1039Arg) c.77-1264T>C (n.77-1264T>C) | |
| 16 | g.51138816A>T | CA395880294 | SALL1 | c.3406T>A (p.Cys1136Ser) c.3115T>A (p.Cys1039Ser) c.77-1264T>A (n.77-1264T>A) | |
| 16 | g.51138817G>A | CA495779743 | SALL1 | c.3405C>T (p.Tyr1135=) c.3114C>T (p.Tyr1038=) c.77-1265C>T (n.77-1265C>T) | |
| 16 | g.51138817G>C | CA395880296 | SALL1 | c.3405C>G (p.Tyr1135Ter) c.3114C>G (p.Tyr1038Ter) c.77-1265C>G (n.77-1265C>G) | |
| 16 | g.51138817G>T | CA395880299 | SALL1 | c.3405C>A (p.Tyr1135Ter) c.3114C>A (p.Tyr1038Ter) c.77-1265C>A (n.77-1265C>A) | |
| 16 | g.51138818T>A | CA395880301 | SALL1 | c.3404A>T (p.Tyr1135Phe) c.3113A>T (p.Tyr1038Phe) c.77-1266A>T (n.77-1266A>T) | |
| 16 | g.51138818T>C | CA395880302 | SALL1 | c.3404A>G (p.Tyr1135Cys) c.3113A>G (p.Tyr1038Cys) c.77-1266A>G (n.77-1266A>G) | dbSNP gnomAD v4 |
| 16 | g.51138818T>G | CA395880305 | SALL1 | c.3404A>C (p.Tyr1135Ser) c.3113A>C (p.Tyr1038Ser) c.77-1266A>C (n.77-1266A>C) | |
| 16 | g.51138818T= | CA2222016802 | SALL1 | c.3404A= (p.Tyr1135=) c.3113A= (p.Tyr1038=) c.77-1266A= (n.77-1266A=) | |
| 16 | g.51138819A= | CA2222016808 | SALL1 | c.3403T= (p.Tyr1135=) c.3112T= (p.Tyr1038=) c.77-1267T= (n.77-1267T=) | |
| 16 | g.51138819A>C | CA395880309 | SALL1 | c.3403T>G (p.Tyr1135Asp) c.3112T>G (p.Tyr1038Asp) c.77-1267T>G (n.77-1267T>G) | |
| 16 | g.51138819A>G | CA8052931 | SALL1 | c.3403T>C (p.Tyr1135His) c.3112T>C (p.Tyr1038His) c.77-1267T>C (n.77-1267T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138819A>T | CA395880313 | SALL1 | c.3403T>A (p.Tyr1135Asn) c.3112T>A (p.Tyr1038Asn) c.77-1267T>A (n.77-1267T>A) | |
| 16 | g.51138820G>A | CA8052932 | SALL1 | c.3402C>T (p.His1134=) c.3111C>T (p.His1037=) c.77-1268C>T (n.77-1268C>T) | dbSNP ExAC gnomAD v4 |
| 16 | g.51138820G>C | CA395880321 | SALL1 | c.3402C>G (p.His1134Gln) c.3111C>G (p.His1037Gln) c.77-1268C>G (n.77-1268C>G) | gnomAD v4 |
| 16 | g.51138820G= | CA2222016812 | SALL1 | c.3402C= (p.His1134=) c.3111C= (p.His1037=) c.77-1268C= (n.77-1268C=) | |
| 16 | g.51138820G>T | CA395880317 | SALL1 | c.3402C>A (p.His1134Gln) c.3111C>A (p.His1037Gln) c.77-1268C>A (n.77-1268C>A) | |
| 16 | g.51138821T>A | CA395880324 | SALL1 | c.3401A>T (p.His1134Leu) c.3110A>T (p.His1037Leu) c.77-1269A>T (n.77-1269A>T) | |
| 16 | g.51138821T>C | CA395880329 | SALL1 | c.3401A>G (p.His1134Arg) c.3110A>G (p.His1037Arg) c.77-1269A>G (n.77-1269A>G) | |
| 16 | g.51138821T>G | CA395880326 | SALL1 | c.3401A>C (p.His1134Pro) c.3110A>C (p.His1037Pro) c.77-1269A>C (n.77-1269A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138821T= | CA2222016818 | SALL1 | c.3401A= (p.His1134=) c.3110A= (p.His1037=) c.77-1269A= (n.77-1269A=) | |
| 16 | g.51138822G>A | CA395880331 | SALL1 | c.3400C>T (p.His1134Tyr) c.3109C>T (p.His1037Tyr) c.77-1270C>T (n.77-1270C>T) | |
| 16 | g.51138822G>C | CA395880333 | SALL1 | c.3400C>G (p.His1134Asp) c.3109C>G (p.His1037Asp) c.77-1270C>G (n.77-1270C>G) | |
| 16 | g.51138822G= | CA2222016819 | SALL1 | c.3400C= (p.His1134=) c.3109C= (p.His1037=) c.77-1270C= (n.77-1270C=) | |
| 16 | g.51138822G>T | CA8052933 | SALL1 | c.3400C>A (p.His1134Asn) c.3109C>A (p.His1037Asn) c.77-1270C>A (n.77-1270C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138823C>A | CA395880335 | SALL1 | c.3399G>T (p.Gln1133His) c.3108G>T (p.Gln1036His) c.77-1271G>T (n.77-1271G>T) | |
| 16 | g.51138823C= | CA2222016823 | SALL1 | c.3399G= (p.Gln1133=) c.3108G= (p.Gln1036=) c.77-1271G= (n.77-1271G=) | |
| 16 | g.51138823C>G | CA395880337 | SALL1 | c.3399G>C (p.Gln1133His) c.3108G>C (p.Gln1036His) c.77-1271G>C (n.77-1271G>C) | dbSNP |
| 16 | g.51138823C>T | CA495779750 | SALL1 | c.3399G>A (p.Gln1133=) c.3108G>A (p.Gln1036=) c.77-1271G>A (n.77-1271G>A) | |
| 16 | g.51138824T>A | CA395880340 | SALL1 | c.3398A>T (p.Gln1133Leu) c.3107A>T (p.Gln1036Leu) c.77-1272A>T (n.77-1272A>T) | |
| 16 | g.51138824T>C | CA395880342 | SALL1 | c.3398A>G (p.Gln1133Arg) c.3107A>G (p.Gln1036Arg) c.77-1272A>G (n.77-1272A>G) | |
| 16 | g.51138824T>G | CA395880344 | SALL1 | c.3398A>C (p.Gln1133Pro) c.3107A>C (p.Gln1036Pro) c.77-1272A>C (n.77-1272A>C) | |
| 16 | g.51138825G>A | CA395880347 | SALL1 | c.3397C>T (p.Gln1133Ter) c.3106C>T (p.Gln1036Ter) c.77-1273C>T (n.77-1273C>T) | |
| 16 | g.51138825G>C | CA395880349 | SALL1 | c.3397C>G (p.Gln1133Glu) c.3106C>G (p.Gln1036Glu) c.77-1273C>G (n.77-1273C>G) | |
| 16 | g.51138825G= | CA2222016827 | SALL1 | c.3397C= (p.Gln1133=) c.3106C= (p.Gln1036=) c.77-1273C= (n.77-1273C=) | |
| 16 | g.51138825G>T | CA8052934 | SALL1 | c.3397C>A (p.Gln1133Lys) c.3106C>A (p.Gln1036Lys) c.77-1273C>A (n.77-1273C>A) | dbSNP ExAC |
| 16 | g.51138826C>A | CA395880351 | SALL1 | c.3396G>T (p.Lys1132Asn) c.3105G>T (p.Lys1035Asn) c.77-1274G>T (n.77-1274G>T) | |
| 16 | g.51138826C>G | CA395880352 | SALL1 | c.3396G>C (p.Lys1132Asn) c.3105G>C (p.Lys1035Asn) c.77-1274G>C (n.77-1274G>C) | |
| 16 | g.51138826C>T | CA495779752 | SALL1 | c.3396G>A (p.Lys1132=) c.3105G>A (p.Lys1035=) c.77-1274G>A (n.77-1274G>A) | |
| 16 | g.51138827T>A | CA395880357 | SALL1 | c.3395A>T (p.Lys1132Met) c.3104A>T (p.Lys1035Met) c.77-1275A>T (n.77-1275A>T) | dbSNP |
| 16 | g.51138827T>C | CA8052935 | SALL1 | c.3395A>G (p.Lys1132Arg) c.3104A>G (p.Lys1035Arg) c.77-1275A>G (n.77-1275A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138827T>G | CA395880355 | SALL1 | c.3395A>C (p.Lys1132Thr) c.3104A>C (p.Lys1035Thr) c.77-1275A>C (n.77-1275A>C) | |
| 16 | g.51138827T= | CA2222016832 | SALL1 | c.3395A= (p.Lys1132=) c.3104A= (p.Lys1035=) c.77-1275A= (n.77-1275A=) | |
| 16 | g.51138828T>A | CA395880359 | SALL1 | c.3394A>T (p.Lys1132Ter) c.3103A>T (p.Lys1035Ter) c.77-1276A>T (n.77-1276A>T) | |
| 16 | g.51138828T>C | CA395880361 | SALL1 | c.3394A>G (p.Lys1132Glu) c.3103A>G (p.Lys1035Glu) c.77-1276A>G (n.77-1276A>G) | |
| 16 | g.51138828T>G | CA395880363 | SALL1 | c.3394A>C (p.Lys1132Gln) c.3103A>C (p.Lys1035Gln) c.77-1276A>C (n.77-1276A>C) | |
| 16 | g.51138829G>A | CA495779753 | SALL1 | c.3393C>T (p.Pro1131=) c.3102C>T (p.Pro1034=) c.77-1277C>T (n.77-1277C>T) | |
| 16 | g.51138829G>C | CA495779754 | SALL1 | c.3393C>G (p.Pro1131=) c.3102C>G (p.Pro1034=) c.77-1277C>G (n.77-1277C>G) | |
| 16 | g.51138829G= | CA2222016837 | SALL1 | c.3393C= (p.Pro1131=) c.3102C= (p.Pro1034=) c.77-1277C= (n.77-1277C=) | |
| 16 | g.51138829G>T | CA8052936 | SALL1 | c.3393C>A (p.Pro1131=) c.3102C>A (p.Pro1034=) c.77-1277C>A (n.77-1277C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138830G>A | CA395880367 | SALL1 | c.3392C>T (p.Pro1131Leu) c.3101C>T (p.Pro1034Leu) c.77-1278C>T (n.77-1278C>T) | |
| 16 | g.51138830G>C | CA395880369 | SALL1 | c.3392C>G (p.Pro1131Arg) c.3101C>G (p.Pro1034Arg) c.77-1278C>G (n.77-1278C>G) | |
| 16 | g.51138830G>T | CA395880370 | SALL1 | c.3392C>A (p.Pro1131His) c.3101C>A (p.Pro1034His) c.77-1278C>A (n.77-1278C>A) | |
| 16 | g.51138831G>A | CA395880373 | SALL1 | c.3391C>T (p.Pro1131Ser) c.3100C>T (p.Pro1034Ser) c.77-1279C>T (n.77-1279C>T) | |
| 16 | g.51138831G>C | CA395880375 | SALL1 | c.3391C>G (p.Pro1131Ala) c.3100C>G (p.Pro1034Ala) c.77-1279C>G (n.77-1279C>G) | |
| 16 | g.51138831G>T | CA395880377 | SALL1 | c.3391C>A (p.Pro1131Thr) c.3100C>A (p.Pro1034Thr) c.77-1279C>A (n.77-1279C>A) | |
| 16 | g.51138832A= | CA2222016839 | SALL1 | c.3390T= (p.Thr1130=) c.3099T= (p.Thr1033=) c.77-1280T= (n.77-1280T=) | |
| 16 | g.51138832A>C | CA495779756 | SALL1 | c.3390T>G (p.Thr1130=) c.3099T>G (p.Thr1033=) c.77-1280T>G (n.77-1280T>G) | |
| 16 | g.51138832A>G | CA281300585 | SALL1 | c.3390T>C (p.Thr1130=) c.3099T>C (p.Thr1033=) c.77-1280T>C (n.77-1280T>C) | dbSNP |
| 16 | g.51138832A>T | CA495779757 | SALL1 | c.3390T>A (p.Thr1130=) c.3099T>A (p.Thr1033=) c.77-1280T>A (n.77-1280T>A) | gnomAD v4 |
| 16 | g.51138833G>A | CA395880379 | SALL1 | c.3389C>T (p.Thr1130Ile) c.3098C>T (p.Thr1033Ile) c.77-1281C>T (n.77-1281C>T) | |
| 16 | g.51138833G>C | CA395880381 | SALL1 | c.3389C>G (p.Thr1130Ser) c.3098C>G (p.Thr1033Ser) c.77-1281C>G (n.77-1281C>G) | |
| 16 | g.51138833G>T | CA395880384 | SALL1 | c.3389C>A (p.Thr1130Asn) c.3098C>A (p.Thr1033Asn) c.77-1281C>A (n.77-1281C>A) | |
| 16 | g.51138834T>A | CA395880390 | SALL1 | c.3388A>T (p.Thr1130Ser) c.3097A>T (p.Thr1033Ser) c.77-1282A>T (n.77-1282A>T) | |
| 16 | g.51138834T>C | CA395880388 | SALL1 | c.3388A>G (p.Thr1130Ala) c.3097A>G (p.Thr1033Ala) c.77-1282A>G (n.77-1282A>G) | dbSNP gnomAD v4 |
| 16 | g.51138834T>G | CA395880386 | SALL1 | c.3388A>C (p.Thr1130Pro) c.3097A>C (p.Thr1033Pro) c.77-1282A>C (n.77-1282A>C) | |
| 16 | g.51138834T= | CA2222016853 | SALL1 | c.3388A= (p.Thr1130=) c.3097A= (p.Thr1033=) c.77-1282A= (n.77-1282A=) | |
| 16 | g.51138835T>A | CA395880392 | SALL1 | c.3387A>T (p.Arg1129Ser) c.3096A>T (p.Arg1032Ser) c.77-1283A>T (n.77-1283A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138835T>C | CA495779758 | SALL1 | c.3387A>G (p.Arg1129=) c.3096A>G (p.Arg1032=) c.77-1283A>G (n.77-1283A>G) | |
| 16 | g.51138835T>G | CA395880394 | SALL1 | c.3387A>C (p.Arg1129Ser) c.3096A>C (p.Arg1032Ser) c.77-1283A>C (n.77-1283A>C) | |
| 16 | g.51138835T= | CA2222016856 | SALL1 | c.3387A= (p.Arg1129=) c.3096A= (p.Arg1032=) c.77-1283A= (n.77-1283A=) | |
| 16 | g.51138836C>A | CA395880396 | SALL1 | c.3386G>T (p.Arg1129Ile) c.3095G>T (p.Arg1032Ile) c.77-1284G>T (n.77-1284G>T) | |
| 16 | g.51138836C>G | CA395880399 | SALL1 | c.3386G>C (p.Arg1129Thr) c.3095G>C (p.Arg1032Thr) c.77-1284G>C (n.77-1284G>C) | |
| 16 | g.51138836C>T | CA395880401 | SALL1 | c.3386G>A (p.Arg1129Lys) c.3095G>A (p.Arg1032Lys) c.77-1284G>A (n.77-1284G>A) | |
| 16 | g.51138837T>A | CA395880403 | SALL1 | c.3385A>T (p.Arg1129Ter) c.3094A>T (p.Arg1032Ter) c.77-1285A>T (n.77-1285A>T) | |
| 16 | g.51138837T>C | CA395880405 | SALL1 | c.3385A>G (p.Arg1129Gly) c.3094A>G (p.Arg1032Gly) c.77-1285A>G (n.77-1285A>G) | |
| 16 | g.51138837T>G | CA495779760 | SALL1 | c.3385A>C (p.Arg1129=) c.3094A>C (p.Arg1032=) c.77-1285A>C (n.77-1285A>C) | |
| 16 | g.51138838C>A | CA395880407 | SALL1 | c.3384G>T (p.Arg1128Ser) c.3093G>T (p.Arg1031Ser) c.77-1286G>T (n.77-1286G>T) | |
| 16 | g.51138838C= | CA2222016860 | SALL1 | c.3384G= (p.Arg1128=) c.3093G= (p.Arg1031=) c.77-1286G= (n.77-1286G=) | |
| 16 | g.51138838C>G | CA395880409 | SALL1 | c.3384G>C (p.Arg1128Ser) c.3093G>C (p.Arg1031Ser) c.77-1286G>C (n.77-1286G>C) | |
| 16 | g.51138838C>T | CA495779761 | SALL1 | c.3384G>A (p.Arg1128=) c.3093G>A (p.Arg1031=) c.77-1286G>A (n.77-1286G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138839C>A | CA395880411 | SALL1 | c.3383G>T (p.Arg1128Met) c.3092G>T (p.Arg1031Met) c.77-1287G>T (n.77-1287G>T) | |
| 16 | g.51138839C= | CA2222016864 | SALL1 | c.3383G= (p.Arg1128=) c.3092G= (p.Arg1031=) c.77-1287G= (n.77-1287G=) | |
| 16 | g.51138839C>G | CA395880413 | SALL1 | c.3383G>C (p.Arg1128Thr) c.3092G>C (p.Arg1031Thr) c.77-1287G>C (n.77-1287G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138839C>T | CA395880414 | SALL1 | c.3383G>A (p.Arg1128Lys) c.3092G>A (p.Arg1031Lys) c.77-1287G>A (n.77-1287G>A) | |
| 16 | g.51138840T>A | CA395880416 | SALL1 | c.3382A>T (p.Arg1128Trp) c.3091A>T (p.Arg1031Trp) c.77-1288A>T (n.77-1288A>T) | gnomAD v4 |
| 16 | g.51138840T>C | CA395880418 | SALL1 | c.3382A>G (p.Arg1128Gly) c.3091A>G (p.Arg1031Gly) c.77-1288A>G (n.77-1288A>G) | |
| 16 | g.51138840T>G | CA495779763 | SALL1 | c.3382A>C (p.Arg1128=) c.3091A>C (p.Arg1031=) c.77-1288A>C (n.77-1288A>C) | |
| 16 | g.51138841G>A | CA495779764 | SALL1 | c.3381C>T (p.Pro1127=) c.3090C>T (p.Pro1030=) c.77-1289C>T (n.77-1289C>T) | |
| 16 | g.51138841G>C | CA495779765 | SALL1 | c.3381C>G (p.Pro1127=) c.3090C>G (p.Pro1030=) c.77-1289C>G (n.77-1289C>G) | |
| 16 | g.51138841G>T | CA495779766 | SALL1 | c.3381C>A (p.Pro1127=) c.3090C>A (p.Pro1030=) c.77-1289C>A (n.77-1289C>A) | |
| 16 | g.51138843del | CA2573054235 | SALL1 | c.3381del (p.Arg1128GlyfsTer?) c.3090del (p.Arg1031GlyfsTer?) c.77-1289del (n.77-1289del) | ClinVar dbSNP |
| 16 | g.51138842G>A | CA8052937 | SALL1 | c.3380C>T (p.Pro1127Leu) c.3089C>T (p.Pro1030Leu) c.77-1290C>T (n.77-1290C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138842G>C | CA395880422 | SALL1 | c.3380C>G (p.Pro1127Arg) c.3089C>G (p.Pro1030Arg) c.77-1290C>G (n.77-1290C>G) | |
| 16 | g.51138842G= | CA2222016869 | SALL1 | c.3380C= (p.Pro1127=) c.3089C= (p.Pro1030=) c.77-1290C= (n.77-1290C=) | |
| 16 | g.51138842G>T | CA395880420 | SALL1 | c.3380C>A (p.Pro1127His) c.3089C>A (p.Pro1030His) c.77-1290C>A (n.77-1290C>A) | |
| 16 | g.51138843G>A | CA395880424 | SALL1 | c.3379C>T (p.Pro1127Ser) c.3088C>T (p.Pro1030Ser) c.77-1291C>T (n.77-1291C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138843G>C | CA395880426 | SALL1 | c.3379C>G (p.Pro1127Ala) c.3088C>G (p.Pro1030Ala) c.77-1291C>G (n.77-1291C>G) | |
| 16 | g.51138843G= | CA2222016870 | SALL1 | c.3379C= (p.Pro1127=) c.3088C= (p.Pro1030=) c.77-1291C= (n.77-1291C=) | |
| 16 | g.51138843G>T | CA395880428 | SALL1 | c.3379C>A (p.Pro1127Thr) c.3088C>A (p.Pro1030Thr) c.77-1291C>A (n.77-1291C>A) | |
| 16 | g.51138844C>A | CA495779767 | SALL1 | c.3378G>T (p.Leu1126=) c.3087G>T (p.Leu1029=) c.77-1292G>T (n.77-1292G>T) | gnomAD v4 |
| 16 | g.51138844C>G | CA495779769 | SALL1 | c.3378G>C (p.Leu1126=) c.3087G>C (p.Leu1029=) c.77-1292G>C (n.77-1292G>C) | |
| 16 | g.51138844C>T | CA495779768 | SALL1 | c.3378G>A (p.Leu1126=) c.3087G>A (p.Leu1029=) c.77-1292G>A (n.77-1292G>A) | |
| 16 | g.51138845A= | CA2222016872 | SALL1 | c.3377T= (p.Leu1126=) c.3086T= (p.Leu1029=) c.77-1293T= (n.77-1293T=) | |
| 16 | g.51138845A>C | CA395880430 | SALL1 | c.3377T>G (p.Leu1126Arg) c.3086T>G (p.Leu1029Arg) c.77-1293T>G (n.77-1293T>G) | |
| 16 | g.51138845A>G | CA395880432 | SALL1 | c.3377T>C (p.Leu1126Pro) c.3086T>C (p.Leu1029Pro) c.77-1293T>C (n.77-1293T>C) | |
| 16 | g.51138845A>T | CA8052938 | SALL1 | c.3377T>A (p.Leu1126Gln) c.3086T>A (p.Leu1029Gln) c.77-1293T>A (n.77-1293T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138846G>A | CA495779773 | SALL1 | c.3376C>T (p.Leu1126=) c.3085C>T (p.Leu1029=) c.77-1294C>T (n.77-1294C>T) | dbSNP |
| 16 | g.51138846G>C | CA395880435 | SALL1 | c.3376C>G (p.Leu1126Val) c.3085C>G (p.Leu1029Val) c.77-1294C>G (n.77-1294C>G) | |
| 16 | g.51138846G= | CA2222016876 | SALL1 | c.3376C= (p.Leu1126=) c.3085C= (p.Leu1029=) c.77-1294C= (n.77-1294C=) | |
| 16 | g.51138846G>T | CA395880438 | SALL1 | c.3376C>A (p.Leu1126Met) c.3085C>A (p.Leu1029Met) c.77-1294C>A (n.77-1294C>A) | |
| 16 | g.51138847A>C | CA495779774 | SALL1 | c.3375T>G (p.Ala1125=) c.3084T>G (p.Ala1028=) c.77-1295T>G (n.77-1295T>G) | |
| 16 | g.51138847A>G | CA495779775 | SALL1 | c.3375T>C (p.Ala1125=) c.3084T>C (p.Ala1028=) c.77-1295T>C (n.77-1295T>C) | |
| 16 | g.51138847A>T | CA495779776 | SALL1 | c.3375T>A (p.Ala1125=) c.3084T>A (p.Ala1028=) c.77-1295T>A (n.77-1295T>A) | |
| 16 | g.51138848G>A | CA395880440 | SALL1 | c.3374C>T (p.Ala1125Val) c.3083C>T (p.Ala1028Val) c.77-1296C>T (n.77-1296C>T) | dbSNP |
| 16 | g.51138848G>C | CA395880442 | SALL1 | c.3374C>G (p.Ala1125Gly) c.3083C>G (p.Ala1028Gly) c.77-1296C>G (n.77-1296C>G) | |
| 16 | g.51138848G= | CA2222016879 | SALL1 | c.3374C= (p.Ala1125=) c.3083C= (p.Ala1028=) c.77-1296C= (n.77-1296C=) | |
| 16 | g.51138848G>T | CA395880443 | SALL1 | c.3374C>A (p.Ala1125Asp) c.3083C>A (p.Ala1028Asp) c.77-1296C>A (n.77-1296C>A) | |
| 16 | g.51138849C>A | CA8052939 | SALL1 | c.3373G>T (p.Ala1125Ser) c.3082G>T (p.Ala1028Ser) c.77-1297G>T (n.77-1297G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138849C= | CA2222016883 | SALL1 | c.3373G= (p.Ala1125=) c.3082G= (p.Ala1028=) c.77-1297G= (n.77-1297G=) | |
| 16 | g.51138849C>G | CA395880449 | SALL1 | c.3373G>C (p.Ala1125Pro) c.3082G>C (p.Ala1028Pro) c.77-1297G>C (n.77-1297G>C) | |
| 16 | g.51138849C>T | CA395880447 | SALL1 | c.3373G>A (p.Ala1125Thr) c.3082G>A (p.Ala1028Thr) c.77-1297G>A (n.77-1297G>A) | |
| 16 | g.51138850A= | CA2222016888 | SALL1 | c.3372T= (p.Pro1124=) c.3081T= (p.Pro1027=) c.77-1298T= (n.77-1298T=) | |
| 16 | g.51138850A>C | CA495779780 | SALL1 | c.3372T>G (p.Pro1124=) c.3081T>G (p.Pro1027=) c.77-1298T>G (n.77-1298T>G) | |
| 16 | g.51138850A>G | CA495779781 | SALL1 | c.3372T>C (p.Pro1124=) c.3081T>C (p.Pro1027=) c.77-1298T>C (n.77-1298T>C) | |
| 16 | g.51138850A>T | CA495779782 | SALL1 | c.3372T>A (p.Pro1124=) c.3081T>A (p.Pro1027=) c.77-1298T>A (n.77-1298T>A) | dbSNP |
| 16 | g.51138851G>A | CA395880452 | SALL1 | c.3371C>T (p.Pro1124Leu) c.3080C>T (p.Pro1027Leu) c.77-1299C>T (n.77-1299C>T) | |
| 16 | g.51138851G>C | CA395880457 | SALL1 | c.3371C>G (p.Pro1124Arg) c.3080C>G (p.Pro1027Arg) c.77-1299C>G (n.77-1299C>G) | dbSNP |
| 16 | g.51138851G>T | CA395880454 | SALL1 | c.3371C>A (p.Pro1124His) c.3080C>A (p.Pro1027His) c.77-1299C>A (n.77-1299C>A) | |
| 16 | g.51138852G>A | CA395880459 | SALL1 | c.3370C>T (p.Pro1124Ser) c.3079C>T (p.Pro1027Ser) c.77-1300C>T (n.77-1300C>T) | |
| 16 | g.51138852G>C | CA395880461 | SALL1 | c.3370C>G (p.Pro1124Ala) c.3079C>G (p.Pro1027Ala) c.77-1300C>G (n.77-1300C>G) | |
| 16 | g.51138852G>T | CA395880463 | SALL1 | c.3370C>A (p.Pro1124Thr) c.3079C>A (p.Pro1027Thr) c.77-1300C>A (n.77-1300C>A) | |
| 16 | g.51138853G>A | CA8052940 | SALL1 | c.3369C>T (p.Leu1123=) c.3078C>T (p.Leu1026=) c.77-1301C>T (n.77-1301C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138853G>C | CA495779783 | SALL1 | c.3369C>G (p.Leu1123=) c.3078C>G (p.Leu1026=) c.77-1301C>G (n.77-1301C>G) | gnomAD v4 |
| 16 | g.51138853G= | CA2222016891 | SALL1 | c.3369C= (p.Leu1123=) c.3078C= (p.Leu1026=) c.77-1301C= (n.77-1301C=) | |
| 16 | g.51138853G>T | CA495779784 | SALL1 | c.3369C>A (p.Leu1123=) c.3078C>A (p.Leu1026=) c.77-1301C>A (n.77-1301C>A) | |
| 16 | g.51138854A>C | CA395880465 | SALL1 | c.3368T>G (p.Leu1123Arg) c.3077T>G (p.Leu1026Arg) c.77-1302T>G (n.77-1302T>G) | |
| 16 | g.51138854A>G | CA395880467 | SALL1 | c.3368T>C (p.Leu1123Pro) c.3077T>C (p.Leu1026Pro) c.77-1302T>C (n.77-1302T>C) | |
| 16 | g.51138854A>T | CA395880468 | SALL1 | c.3368T>A (p.Leu1123His) c.3077T>A (p.Leu1026His) c.77-1302T>A (n.77-1302T>A) | |
| 16 | g.51138855G>A | CA395880470 | SALL1 | c.3367C>T (p.Leu1123Phe) c.3076C>T (p.Leu1026Phe) c.77-1303C>T (n.77-1303C>T) | |
| 16 | g.51138855G>C | CA395880472 | SALL1 | c.3367C>G (p.Leu1123Val) c.3076C>G (p.Leu1026Val) c.77-1303C>G (n.77-1303C>G) | gnomAD v4 |
| 16 | g.51138855G>T | CA395880473 | SALL1 | c.3367C>A (p.Leu1123Ile) c.3076C>A (p.Leu1026Ile) c.77-1303C>A (n.77-1303C>A) | |
| 16 | g.51138856C>A | CA495779788 | SALL1 | c.3366G>T (p.Leu1122=) c.3075G>T (p.Leu1025=) c.77-1304G>T (n.77-1304G>T) | gnomAD v4 |
| 16 | g.51138856C>G | CA495779789 | SALL1 | c.3366G>C (p.Leu1122=) c.3075G>C (p.Leu1025=) c.77-1304G>C (n.77-1304G>C) | |
| 16 | g.51138856C>T | CA495779790 | SALL1 | c.3366G>A (p.Leu1122=) c.3075G>A (p.Leu1025=) c.77-1304G>A (n.77-1304G>A) | |
| 16 | g.51138857A= | CA2222016895 | SALL1 | c.3365T= (p.Leu1122=) c.3074T= (p.Leu1025=) c.77-1305T= (n.77-1305T=) | |
| 16 | g.51138857A>C | CA395880480 | SALL1 | c.3365T>G (p.Leu1122Arg) c.3074T>G (p.Leu1025Arg) c.77-1305T>G (n.77-1305T>G) | |
| 16 | g.51138857A>G | CA8052941 | SALL1 | c.3365T>C (p.Leu1122Pro) c.3074T>C (p.Leu1025Pro) c.77-1305T>C (n.77-1305T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51138857A>T | CA395880476 | SALL1 | c.3365T>A (p.Leu1122Gln) c.3074T>A (p.Leu1025Gln) c.77-1305T>A (n.77-1305T>A) | |
| 16 | g.51138858G>A | CA495779791 | SALL1 | c.3364C>T (p.Leu1122=) c.3073C>T (p.Leu1025=) c.77-1306C>T (n.77-1306C>T) | |
| 16 | g.51138858G>C | CA395880481 | SALL1 | c.3364C>G (p.Leu1122Val) c.3073C>G (p.Leu1025Val) c.77-1306C>G (n.77-1306C>G) | gnomAD v4 |
| 16 | g.51138858G>T | CA395880482 | SALL1 | c.3364C>A (p.Leu1122Met) c.3073C>A (p.Leu1025Met) c.77-1306C>A (n.77-1306C>A) | |
| 16 | g.51138859A= | CA2222016901 | SALL1 | c.3363T= (p.Val1121=) c.3072T= (p.Val1024=) c.77-1307T= (n.77-1307T=) | |
| 16 | g.51138859A>C | CA495779793 | SALL1 | c.3363T>G (p.Val1121=) c.3072T>G (p.Val1024=) c.77-1307T>G (n.77-1307T>G) | |
| 16 | g.51138859A>G | CA495779794 | SALL1 | c.3363T>C (p.Val1121=) c.3072T>C (p.Val1024=) c.77-1307T>C (n.77-1307T>C) | dbSNP |
| 16 | g.51138859A>T | CA495779796 | SALL1 | c.3363T>A (p.Val1121=) c.3072T>A (p.Val1024=) c.77-1307T>A (n.77-1307T>A) | |
| 16 | g.51138860A= | CA2222016904 | SALL1 | c.3362T= (p.Val1121=) c.3071T= (p.Val1024=) c.77-1308T= (n.77-1308T=) | |
| 16 | g.51138860A>C | CA395880486 | SALL1 | c.3362T>G (p.Val1121Gly) c.3071T>G (p.Val1024Gly) c.77-1308T>G (n.77-1308T>G) | |
| 16 | g.51138860A>G | CA8052942 | SALL1 | c.3362T>C (p.Val1121Ala) c.3071T>C (p.Val1024Ala) c.77-1308T>C (n.77-1308T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138860A>T | CA395880489 | SALL1 | c.3362T>A (p.Val1121Asp) c.3071T>A (p.Val1024Asp) c.77-1308T>A (n.77-1308T>A) | |
| 16 | g.51138861C>A | CA395880491 | SALL1 | c.3361G>T (p.Val1121Phe) c.3070G>T (p.Val1024Phe) c.77-1309G>T (n.77-1309G>T) | gnomAD v4 |
| 16 | g.51138861C>G | CA395880492 | SALL1 | c.3361G>C (p.Val1121Leu) c.3070G>C (p.Val1024Leu) c.77-1309G>C (n.77-1309G>C) | |
| 16 | g.51138861C>T | CA395880495 | SALL1 | c.3361G>A (p.Val1121Ile) c.3070G>A (p.Val1024Ile) c.77-1309G>A (n.77-1309G>A) | |
| 16 | g.51138862T>A | CA495779798 | SALL1 | c.3360A>T (p.Pro1120=) c.3069A>T (p.Pro1023=) c.77-1310A>T (n.77-1310A>T) | |
| 16 | g.51138862T>C | CA495779799 | SALL1 | c.3360A>G (p.Pro1120=) c.3069A>G (p.Pro1023=) c.77-1310A>G (n.77-1310A>G) | gnomAD v4 |
| 16 | g.51138862T>G | CA495779800 | SALL1 | c.3360A>C (p.Pro1120=) c.3069A>C (p.Pro1023=) c.77-1310A>C (n.77-1310A>C) | |
| 16 | g.51138863G>A | CA395880497 | SALL1 | c.3359C>T (p.Pro1120Leu) c.3068C>T (p.Pro1023Leu) c.77-1311C>T (n.77-1311C>T) | gnomAD v4 |
| 16 | g.51138863G>C | CA395880499 | SALL1 | c.3359C>G (p.Pro1120Arg) c.3068C>G (p.Pro1023Arg) c.77-1311C>G (n.77-1311C>G) | |
| 16 | g.51138863G>T | CA395880501 | SALL1 | c.3359C>A (p.Pro1120Gln) c.3068C>A (p.Pro1023Gln) c.77-1311C>A (n.77-1311C>A) | |
| 16 | g.51138864G>A | CA395880505 | SALL1 | c.3358C>T (p.Pro1120Ser) c.3067C>T (p.Pro1023Ser) c.77-1312C>T (n.77-1312C>T) | |
| 16 | g.51138864G>C | CA395880507 | SALL1 | c.3358C>G (p.Pro1120Ala) c.3067C>G (p.Pro1023Ala) c.77-1312C>G (n.77-1312C>G) | |
| 16 | g.51138864G>T | CA395880503 | SALL1 | c.3358C>A (p.Pro1120Thr) c.3067C>A (p.Pro1023Thr) c.77-1312C>A (n.77-1312C>A) | |
| 16 | g.51138865G>A | CA495779803 | SALL1 | c.3357C>T (p.Ser1119=) c.3066C>T (p.Ser1022=) c.77-1313C>T (n.77-1313C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138865G>C | CA495779805 | SALL1 | c.3357C>G (p.Ser1119=) c.3066C>G (p.Ser1022=) c.77-1313C>G (n.77-1313C>G) | |
| 16 | g.51138865G= | CA2222016906 | SALL1 | c.3357C= (p.Ser1119=) c.3066C= (p.Ser1022=) c.77-1313C= (n.77-1313C=) | |
| 16 | g.51138865G>T | CA495779806 | SALL1 | c.3357C>A (p.Ser1119=) c.3066C>A (p.Ser1022=) c.77-1313C>A (n.77-1313C>A) | |
| 16 | g.51138866G>A | CA281300599 | SALL1 | c.3356C>T (p.Ser1119Phe) c.3065C>T (p.Ser1022Phe) c.77-1314C>T (n.77-1314C>T) | dbSNP |
| 16 | g.51138866G>C | CA395880513 | SALL1 | c.3356C>G (p.Ser1119Cys) c.3065C>G (p.Ser1022Cys) c.77-1314C>G (n.77-1314C>G) | |
| 16 | g.51138866G= | CA2222016910 | SALL1 | c.3356C= (p.Ser1119=) c.3065C= (p.Ser1022=) c.77-1314C= (n.77-1314C=) | |
| 16 | g.51138866G>T | CA395880516 | SALL1 | c.3356C>A (p.Ser1119Tyr) c.3065C>A (p.Ser1022Tyr) c.77-1314C>A (n.77-1314C>A) | gnomAD v4 |
| 16 | g.51138867A= | CA2222016913 | SALL1 | c.3355T= (p.Ser1119=) c.3064T= (p.Ser1022=) c.77-1315T= (n.77-1315T=) | |
| 16 | g.51138867A>C | CA395880518 | SALL1 | c.3355T>G (p.Ser1119Ala) c.3064T>G (p.Ser1022Ala) c.77-1315T>G (n.77-1315T>G) | gnomAD v4 |
| 16 | g.51138867A>G | CA8052943 | SALL1 | c.3355T>C (p.Ser1119Pro) c.3064T>C (p.Ser1022Pro) c.77-1315T>C (n.77-1315T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138867A>T | CA395880520 | SALL1 | c.3355T>A (p.Ser1119Thr) c.3064T>A (p.Ser1022Thr) c.77-1315T>A (n.77-1315T>A) | |
| 16 | g.51138868T>A | CA495779807 | SALL1 | c.3354A>T (p.Thr1118=) c.3063A>T (p.Thr1021=) c.77-1316A>T (n.77-1316A>T) | gnomAD v4 |
| 16 | g.51138868T>C | CA495779808 | SALL1 | c.3354A>G (p.Thr1118=) c.3063A>G (p.Thr1021=) c.77-1316A>G (n.77-1316A>G) | gnomAD v4 |
| 16 | g.51138868T>G | CA495779809 | SALL1 | c.3354A>C (p.Thr1118=) c.3063A>C (p.Thr1021=) c.77-1316A>C (n.77-1316A>C) | |
| 16 | g.51138869G>A | CA395880537 | SALL1 | c.3353C>T (p.Thr1118Ile) c.3062C>T (p.Thr1021Ile) c.77-1317C>T (n.77-1317C>T) | |
| 16 | g.51138869G>C | CA395880540 | SALL1 | c.3353C>G (p.Thr1118Arg) c.3062C>G (p.Thr1021Arg) c.77-1317C>G (n.77-1317C>G) | |
| 16 | g.51138869G>T | CA395880543 | SALL1 | c.3353C>A (p.Thr1118Lys) c.3062C>A (p.Thr1021Lys) c.77-1317C>A (n.77-1317C>A) | |
| 16 | g.51138870T>A | CA395880546 | SALL1 | c.3352A>T (p.Thr1118Ser) c.3061A>T (p.Thr1021Ser) c.77-1318A>T (n.77-1318A>T) | |
| 16 | g.51138870T>C | CA395880559 | SALL1 | c.3352A>G (p.Thr1118Ala) c.3061A>G (p.Thr1021Ala) c.77-1318A>G (n.77-1318A>G) | dbSNP |
| 16 | g.51138870T>G | CA395880563 | SALL1 | c.3352A>C (p.Thr1118Pro) c.3061A>C (p.Thr1021Pro) c.77-1318A>C (n.77-1318A>C) | |
| 16 | g.51138870T= | CA2222016918 | SALL1 | c.3352A= (p.Thr1118=) c.3061A= (p.Thr1021=) c.77-1318A= (n.77-1318A=) | |
| 16 | g.51138871G>A | CA495779813 | SALL1 | c.3351C>T (p.Ala1117=) c.3060C>T (p.Ala1020=) c.77-1319C>T (n.77-1319C>T) | dbSNP |
| 16 | g.51138871G>C | CA495779812 | SALL1 | c.3351C>G (p.Ala1117=) c.3060C>G (p.Ala1020=) c.77-1319C>G (n.77-1319C>G) | |
| 16 | g.51138871G= | CA2222016925 | SALL1 | c.3351C= (p.Ala1117=) c.3060C= (p.Ala1020=) c.77-1319C= (n.77-1319C=) | |
| 16 | g.51138871G>T | CA495779811 | SALL1 | c.3351C>A (p.Ala1117=) c.3060C>A (p.Ala1020=) c.77-1319C>A (n.77-1319C>A) | |
| 16 | g.51138871_51138873dup | CA2553379064 | SALL1 | c.3349_3351dup (p.Ala1117_Thr1118insAla) c.3058_3060dup (p.Ala1020_Thr1021insAla) c.77-1321_77-1319dup (n.77-1321_77-1319dup) | |
| 16 | g.51138872G>A | CA395880570 | SALL1 | c.3350C>T (p.Ala1117Val) c.3059C>T (p.Ala1020Val) c.77-1320C>T (n.77-1320C>T) | |
| 16 | g.51138872G>C | CA395880566 | SALL1 | c.3350C>G (p.Ala1117Gly) c.3059C>G (p.Ala1020Gly) c.77-1320C>G (n.77-1320C>G) | |
| 16 | g.51138872G>T | CA395880568 | SALL1 | c.3350C>A (p.Ala1117Asp) c.3059C>A (p.Ala1020Asp) c.77-1320C>A (n.77-1320C>A) | |
| 16 | g.51138873C>A | CA395880573 | SALL1 | c.3349G>T (p.Ala1117Ser) c.3058G>T (p.Ala1020Ser) c.77-1321G>T (n.77-1321G>T) | |
| 16 | g.51138873C= | CA2222016927 | SALL1 | c.3349G= (p.Ala1117=) c.3058G= (p.Ala1020=) c.77-1321G= (n.77-1321G=) | |
| 16 | g.51138873C>G | CA395880576 | SALL1 | c.3349G>C (p.Ala1117Pro) c.3058G>C (p.Ala1020Pro) c.77-1321G>C (n.77-1321G>C) | |
| 16 | g.51138873C>T | CA395880580 | SALL1 | c.3349G>A (p.Ala1117Thr) c.3058G>A (p.Ala1020Thr) c.77-1321G>A (n.77-1321G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138874A>C | CA495779815 | SALL1 | c.3348T>G (p.Ser1116=) c.3057T>G (p.Ser1019=) c.77-1322T>G (n.77-1322T>G) | |
| 16 | g.51138874A>G | CA495779816 | SALL1 | c.3348T>C (p.Ser1116=) c.3057T>C (p.Ser1019=) c.77-1322T>C (n.77-1322T>C) | |
| 16 | g.51138874A>T | CA495779817 | SALL1 | c.3348T>A (p.Ser1116=) c.3057T>A (p.Ser1019=) c.77-1322T>A (n.77-1322T>A) | |
| 16 | g.51138875G>A | CA8052944 | SALL1 | c.3347C>T (p.Ser1116Phe) c.3056C>T (p.Ser1019Phe) c.77-1323C>T (n.77-1323C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138875G>C | CA395880583 | SALL1 | c.3347C>G (p.Ser1116Cys) c.3056C>G (p.Ser1019Cys) c.77-1323C>G (n.77-1323C>G) | |
| 16 | g.51138875G= | CA2222016931 | SALL1 | c.3347C= (p.Ser1116=) c.3056C= (p.Ser1019=) c.77-1323C= (n.77-1323C=) | |
| 16 | g.51138875G>T | CA395880585 | SALL1 | c.3347C>A (p.Ser1116Tyr) c.3056C>A (p.Ser1019Tyr) c.77-1323C>A (n.77-1323C>A) | |
| 16 | g.51138876A>C | CA395880588 | SALL1 | c.3346T>G (p.Ser1116Ala) c.3055T>G (p.Ser1019Ala) c.77-1324T>G (n.77-1324T>G) | |
| 16 | g.51138876A>G | CA395880590 | SALL1 | c.3346T>C (p.Ser1116Pro) c.3055T>C (p.Ser1019Pro) c.77-1324T>C (n.77-1324T>C) | |
| 16 | g.51138876A>T | CA395880593 | SALL1 | c.3346T>A (p.Ser1116Thr) c.3055T>A (p.Ser1019Thr) c.77-1324T>A (n.77-1324T>A) | |
| 16 | g.51138877G>A | CA495779819 | SALL1 | c.3345C>T (p.Ser1115=) c.3054C>T (p.Ser1018=) c.77-1325C>T (n.77-1325C>T) | |
| 16 | g.51138877G>C | CA495779821 | SALL1 | c.3345C>G (p.Ser1115=) c.3054C>G (p.Ser1018=) c.77-1325C>G (n.77-1325C>G) | gnomAD v4 |
| 16 | g.51138877G>T | CA495779820 | SALL1 | c.3345C>A (p.Ser1115=) c.3054C>A (p.Ser1018=) c.77-1325C>A (n.77-1325C>A) | |
| 16 | g.51138878G>A | CA395880595 | SALL1 | c.3344C>T (p.Ser1115Phe) c.3053C>T (p.Ser1018Phe) c.77-1326C>T (n.77-1326C>T) | |
| 16 | g.51138878G>C | CA395880597 | SALL1 | c.3344C>G (p.Ser1115Cys) c.3053C>G (p.Ser1018Cys) c.77-1326C>G (n.77-1326C>G) | |
| 16 | g.51138878G>T | CA395880598 | SALL1 | c.3344C>A (p.Ser1115Tyr) c.3053C>A (p.Ser1018Tyr) c.77-1326C>A (n.77-1326C>A) | |
| 16 | g.51138879A>C | CA395880608 | SALL1 | c.3343T>G (p.Ser1115Ala) c.3052T>G (p.Ser1018Ala) c.77-1327T>G (n.77-1327T>G) | |
| 16 | g.51138879A>G | CA395880605 | SALL1 | c.3343T>C (p.Ser1115Pro) c.3052T>C (p.Ser1018Pro) c.77-1327T>C (n.77-1327T>C) | gnomAD v4 |
| 16 | g.51138879A>T | CA395880602 | SALL1 | c.3343T>A (p.Ser1115Thr) c.3052T>A (p.Ser1018Thr) c.77-1327T>A (n.77-1327T>A) | |
| 16 | g.51138880A>C | CA495779824 | SALL1 | c.3342T>G (p.Ser1114=) c.3051T>G (p.Ser1017=) c.77-1328T>G (n.77-1328T>G) | COSMIC |
| 16 | g.51138880A>G | CA495779826 | SALL1 | c.3342T>C (p.Ser1114=) c.3051T>C (p.Ser1017=) c.77-1328T>C (n.77-1328T>C) | |
| 16 | g.51138880A>T | CA495779827 | SALL1 | c.3342T>A (p.Ser1114=) c.3051T>A (p.Ser1017=) c.77-1328T>A (n.77-1328T>A) | |
| 16 | g.51138881G>A | CA395880611 | SALL1 | c.3341C>T (p.Ser1114Phe) c.3050C>T (p.Ser1017Phe) c.77-1329C>T (n.77-1329C>T) | |
| 16 | g.51138881G>C | CA395880616 | SALL1 | c.3341C>G (p.Ser1114Cys) c.3050C>G (p.Ser1017Cys) c.77-1329C>G (n.77-1329C>G) | |
| 16 | g.51138881G>T | CA395880614 | SALL1 | c.3341C>A (p.Ser1114Tyr) c.3050C>A (p.Ser1017Tyr) c.77-1329C>A (n.77-1329C>A) | gnomAD v4 |
| 16 | g.51138882A>C | CA395880618 | SALL1 | c.3340T>G (p.Ser1114Ala) c.3049T>G (p.Ser1017Ala) c.77-1330T>G (n.77-1330T>G) | |
| 16 | g.51138882A>G | CA395880621 | SALL1 | c.3340T>C (p.Ser1114Pro) c.3049T>C (p.Ser1017Pro) c.77-1330T>C (n.77-1330T>C) | |
| 16 | g.51138882A>T | CA395880620 | SALL1 | c.3340T>A (p.Ser1114Thr) c.3049T>A (p.Ser1017Thr) c.77-1330T>A (n.77-1330T>A) | |
| 16 | g.51138883C>A | CA495779828 | SALL1 | c.3339G>T (p.Leu1113=) c.3048G>T (p.Leu1016=) c.77-1331G>T (n.77-1331G>T) | |
| 16 | g.51138883C>G | CA495779829 | SALL1 | c.3339G>C (p.Leu1113=) c.3048G>C (p.Leu1016=) c.77-1331G>C (n.77-1331G>C) | |
| 16 | g.51138883C>T | CA495779830 | SALL1 | c.3339G>A (p.Leu1113=) c.3048G>A (p.Leu1016=) c.77-1331G>A (n.77-1331G>A) | |
| 16 | g.51138884A= | CA2222016934 | SALL1 | c.3338T= (p.Leu1113=) c.3047T= (p.Leu1016=) c.77-1332T= (n.77-1332T=) | |
| 16 | g.51138884A>C | CA395880624 | SALL1 | c.3338T>G (p.Leu1113Arg) c.3047T>G (p.Leu1016Arg) c.77-1332T>G (n.77-1332T>G) | |
| 16 | g.51138884A>G | CA395880626 | SALL1 | c.3338T>C (p.Leu1113Pro) c.3047T>C (p.Leu1016Pro) c.77-1332T>C (n.77-1332T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138884A>T | CA395880628 | SALL1 | c.3338T>A (p.Leu1113Gln) c.3047T>A (p.Leu1016Gln) c.77-1332T>A (n.77-1332T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138885G>A | CA495779834 | SALL1 | c.3337C>T (p.Leu1113=) c.3046C>T (p.Leu1016=) c.77-1333C>T (n.77-1333C>T) | |
| 16 | g.51138885G>C | CA395880630 | SALL1 | c.3337C>G (p.Leu1113Val) c.3046C>G (p.Leu1016Val) c.77-1333C>G (n.77-1333C>G) | gnomAD v4 |
| 16 | g.51138885G>T | CA395880631 | SALL1 | c.3337C>A (p.Leu1113Met) c.3046C>A (p.Leu1016Met) c.77-1333C>A (n.77-1333C>A) | |
| 16 | g.51138886del | CA2695223339 | SALL1 | c.3336del (p.Leu1113CysfsTer?) c.3045del (p.Leu1016CysfsTer?) c.77-1334del (n.77-1334del) | |
| 16 | g.51138886A>C | CA495779836 | SALL1 | c.3336T>G (p.Pro1112=) c.3045T>G (p.Pro1015=) c.77-1334T>G (n.77-1334T>G) | |
| 16 | g.51138886A>G | CA495779837 | SALL1 | c.3336T>C (p.Pro1112=) c.3045T>C (p.Pro1015=) c.77-1334T>C (n.77-1334T>C) | |
| 16 | g.51138886A>T | CA495779835 | SALL1 | c.3336T>A (p.Pro1112=) c.3045T>A (p.Pro1015=) c.77-1334T>A (n.77-1334T>A) | |
| 16 | g.51138887G>A | CA8052945 | SALL1 | c.3335C>T (p.Pro1112Leu) c.3044C>T (p.Pro1015Leu) c.77-1335C>T (n.77-1335C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138887G>C | CA395880637 | SALL1 | c.3335C>G (p.Pro1112Arg) c.3044C>G (p.Pro1015Arg) c.77-1335C>G (n.77-1335C>G) | |
| 16 | g.51138887G= | CA2222016939 | SALL1 | c.3335C= (p.Pro1112=) c.3044C= (p.Pro1015=) c.77-1335C= (n.77-1335C=) | |
| 16 | g.51138887G>T | CA395880639 | SALL1 | c.3335C>A (p.Pro1112His) c.3044C>A (p.Pro1015His) c.77-1335C>A (n.77-1335C>A) | |
| 16 | g.51138888del | CA495779838 | SALL1 | c.3335del (p.Pro1112LeufsTer?) c.3044del (p.Pro1015LeufsTer?) c.77-1335del (n.77-1335del) | COSMIC |
| 16 | g.51138888G>A | CA395880643 | SALL1 | c.3334C>T (p.Pro1112Ser) c.3043C>T (p.Pro1015Ser) c.77-1336C>T (n.77-1336C>T) | |
| 16 | g.51138888G>C | CA395880646 | SALL1 | c.3334C>G (p.Pro1112Ala) c.3043C>G (p.Pro1015Ala) c.77-1336C>G (n.77-1336C>G) | |
| 16 | g.51138888G>T | CA395880649 | SALL1 | c.3334C>A (p.Pro1112Thr) c.3043C>A (p.Pro1015Thr) c.77-1336C>A (n.77-1336C>A) | |
| 16 | g.51138889C>A | CA495779841 | SALL1 | c.3333G>T (p.Gly1111=) c.3042G>T (p.Gly1014=) c.77-1337G>T (n.77-1337G>T) | |
| 16 | g.51138889C= | CA2222016949 | SALL1 | c.3333G= (p.Gly1111=) c.3042G= (p.Gly1014=) c.77-1337G= (n.77-1337G=) | |
| 16 | g.51138889C>G | CA8052946 | SALL1 | c.3333G>C (p.Gly1111=) c.3042G>C (p.Gly1014=) c.77-1337G>C (n.77-1337G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138889C>T | CA8052947 | SALL1 | c.3333G>A (p.Gly1111=) c.3042G>A (p.Gly1014=) c.77-1337G>A (n.77-1337G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |