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.51138716C>A | CA395878576 | SALL1 | c.3506G>T (p.Arg1169Ile) c.3215G>T (p.Arg1072Ile) c.77-1164G>T (n.77-1164G>T) | |
| 16 | g.51138716C= | CA2222016631 | SALL1 | c.3506G= (p.Arg1169=) c.3215G= (p.Arg1072=) c.77-1164G= (n.77-1164G=) | |
| 16 | g.51138716C>G | CA395878577 | SALL1 | c.3506G>C (p.Arg1169Thr) c.3215G>C (p.Arg1072Thr) c.77-1164G>C (n.77-1164G>C) | COSMIC |
| 16 | g.51138716C>T | CA281298980 | SALL1 | c.3506G>A (p.Arg1169Lys) c.3215G>A (p.Arg1072Lys) c.77-1164G>A (n.77-1164G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138717T>A | CA395878578 | SALL1 | c.3505A>T (p.Arg1169Ter) c.3214A>T (p.Arg1072Ter) c.77-1165A>T (n.77-1165A>T) | |
| 16 | g.51138717T>C | CA395878579 | SALL1 | c.3505A>G (p.Arg1169Gly) c.3214A>G (p.Arg1072Gly) c.77-1165A>G (n.77-1165A>G) | |
| 16 | g.51138717T>G | CA495479244 | SALL1 | c.3505A>C (p.Arg1169=) c.3214A>C (p.Arg1072=) c.77-1165A>C (n.77-1165A>C) | |
| 16 | g.51138718T>A | CA495479245 | SALL1 | c.3504A>T (p.Gly1168=) c.3213A>T (p.Gly1071=) c.77-1166A>T (n.77-1166A>T) | |
| 16 | g.51138718T>C | CA495479246 | SALL1 | c.3504A>G (p.Gly1168=) c.3213A>G (p.Gly1071=) c.77-1166A>G (n.77-1166A>G) | |
| 16 | g.51138718T>G | CA495479248 | SALL1 | c.3504A>C (p.Gly1168=) c.3213A>C (p.Gly1071=) c.77-1166A>C (n.77-1166A>C) | |
| 16 | g.51138719C>A | CA395878580 | SALL1 | c.3503G>T (p.Gly1168Val) c.3212G>T (p.Gly1071Val) c.77-1167G>T (n.77-1167G>T) | |
| 16 | g.51138719C>G | CA395878581 | SALL1 | c.3503G>C (p.Gly1168Ala) c.3212G>C (p.Gly1071Ala) c.77-1167G>C (n.77-1167G>C) | |
| 16 | g.51138719C>T | CA395878582 | SALL1 | c.3503G>A (p.Gly1168Glu) c.3212G>A (p.Gly1071Glu) c.77-1167G>A (n.77-1167G>A) | |
| 16 | g.51138720C>A | CA395878583 | SALL1 | c.3502G>T (p.Gly1168Ter) c.3211G>T (p.Gly1071Ter) c.77-1168G>T (n.77-1168G>T) | |
| 16 | g.51138720C>G | CA395878584 | SALL1 | c.3502G>C (p.Gly1168Arg) c.3211G>C (p.Gly1071Arg) c.77-1168G>C (n.77-1168G>C) | |
| 16 | g.51138720C>T | CA395878585 | SALL1 | c.3502G>A (p.Gly1168Arg) c.3211G>A (p.Gly1071Arg) c.77-1168G>A (n.77-1168G>A) | |
| 16 | g.51138721A>C | CA395878586 | SALL1 | c.3501T>G (p.Cys1167Trp) c.3210T>G (p.Cys1070Trp) c.77-1169T>G (n.77-1169T>G) | |
| 16 | g.51138721A>G | CA495479265 | SALL1 | c.3501T>C (p.Cys1167=) c.3210T>C (p.Cys1070=) c.77-1169T>C (n.77-1169T>C) | |
| 16 | g.51138721A>T | CA395878587 | SALL1 | c.3501T>A (p.Cys1167Ter) c.3210T>A (p.Cys1070Ter) c.77-1169T>A (n.77-1169T>A) | |
| 16 | g.51138722C>A | CA395878588 | SALL1 | c.3500G>T (p.Cys1167Phe) c.3209G>T (p.Cys1070Phe) c.77-1170G>T (n.77-1170G>T) | |
| 16 | g.51138722C>G | CA395878589 | SALL1 | c.3500G>C (p.Cys1167Ser) c.3209G>C (p.Cys1070Ser) c.77-1170G>C (n.77-1170G>C) | |
| 16 | g.51138722C>T | CA395878590 | SALL1 | c.3500G>A (p.Cys1167Tyr) c.3209G>A (p.Cys1070Tyr) c.77-1170G>A (n.77-1170G>A) | |
| 16 | g.51138723A>C | CA395878593 | SALL1 | c.3499T>G (p.Cys1167Gly) c.3208T>G (p.Cys1070Gly) c.77-1171T>G (n.77-1171T>G) | gnomAD v4 |
| 16 | g.51138723A>G | CA395878591 | SALL1 | c.3499T>C (p.Cys1167Arg) c.3208T>C (p.Cys1070Arg) c.77-1171T>C (n.77-1171T>C) | |
| 16 | g.51138723A>T | CA395878592 | SALL1 | c.3499T>A (p.Cys1167Ser) c.3208T>A (p.Cys1070Ser) c.77-1171T>A (n.77-1171T>A) | |
| 16 | g.51138724A>C | CA395878594 | SALL1 | c.3498T>G (p.Ile1166Met) c.3207T>G (p.Ile1069Met) c.77-1172T>G (n.77-1172T>G) | |
| 16 | g.51138724A>G | CA495479280 | SALL1 | c.3498T>C (p.Ile1166=) c.3207T>C (p.Ile1069=) c.77-1172T>C (n.77-1172T>C) | |
| 16 | g.51138724A>T | CA495479283 | SALL1 | c.3498T>A (p.Ile1166=) c.3207T>A (p.Ile1069=) c.77-1172T>A (n.77-1172T>A) | |
| 16 | g.51138725A>C | CA395878595 | SALL1 | c.3497T>G (p.Ile1166Ser) c.3206T>G (p.Ile1069Ser) c.77-1173T>G (n.77-1173T>G) | |
| 16 | g.51138725A>G | CA395878596 | SALL1 | c.3497T>C (p.Ile1166Thr) c.3206T>C (p.Ile1069Thr) c.77-1173T>C (n.77-1173T>C) | |
| 16 | g.51138725A>T | CA395878597 | SALL1 | c.3497T>A (p.Ile1166Asn) c.3206T>A (p.Ile1069Asn) c.77-1173T>A (n.77-1173T>A) | |
| 16 | g.51138726T>A | CA395878598 | SALL1 | c.3496A>T (p.Ile1166Phe) c.3205A>T (p.Ile1069Phe) c.77-1174A>T (n.77-1174A>T) | |
| 16 | g.51138726T>C | CA8052919 | SALL1 | c.3496A>G (p.Ile1166Val) c.3205A>G (p.Ile1069Val) c.77-1174A>G (n.77-1174A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138726T>G | CA395878599 | SALL1 | c.3496A>C (p.Ile1166Leu) c.3205A>C (p.Ile1069Leu) c.77-1174A>C (n.77-1174A>C) | |
| 16 | g.51138726T= | CA2222016633 | SALL1 | c.3496A= (p.Ile1166=) c.3205A= (p.Ile1069=) c.77-1174A= (n.77-1174A=) | |
| 16 | g.51138727A>C | CA495479286 | SALL1 | c.3495T>G (p.Thr1165=) c.3204T>G (p.Thr1068=) c.77-1175T>G (n.77-1175T>G) | |
| 16 | g.51138727A>G | CA495479289 | SALL1 | c.3495T>C (p.Thr1165=) c.3204T>C (p.Thr1068=) c.77-1175T>C (n.77-1175T>C) | |
| 16 | g.51138727A>T | CA495479287 | SALL1 | c.3495T>A (p.Thr1165=) c.3204T>A (p.Thr1068=) c.77-1175T>A (n.77-1175T>A) | |
| 16 | g.51138728G>A | CA395878600 | SALL1 | c.3494C>T (p.Thr1165Ile) c.3203C>T (p.Thr1068Ile) c.77-1176C>T (n.77-1176C>T) | |
| 16 | g.51138728G>C | CA395878601 | SALL1 | c.3494C>G (p.Thr1165Ser) c.3203C>G (p.Thr1068Ser) c.77-1176C>G (n.77-1176C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138728G= | CA2222016645 | SALL1 | c.3494C= (p.Thr1165=) c.3203C= (p.Thr1068=) c.77-1176C= (n.77-1176C=) | |
| 16 | g.51138728G>T | CA395878602 | SALL1 | c.3494C>A (p.Thr1165Asn) c.3203C>A (p.Thr1068Asn) c.77-1176C>A (n.77-1176C>A) | COSMIC |
| 16 | g.51138729T>A | CA395878604 | SALL1 | c.3493A>T (p.Thr1165Ser) c.3202A>T (p.Thr1068Ser) c.77-1177A>T (n.77-1177A>T) | |
| 16 | g.51138729T>C | CA395878605 | SALL1 | c.3493A>G (p.Thr1165Ala) c.3202A>G (p.Thr1068Ala) c.77-1177A>G (n.77-1177A>G) | dbSNP gnomAD v4 |
| 16 | g.51138729T>G | CA395878603 | SALL1 | c.3493A>C (p.Thr1165Pro) c.3202A>C (p.Thr1068Pro) c.77-1177A>C (n.77-1177A>C) | |
| 16 | g.51138729T= | CA2222016648 | SALL1 | c.3493A= (p.Thr1165=) c.3202A= (p.Thr1068=) c.77-1177A= (n.77-1177A=) | |
| 16 | g.51138730G>A | CA495479297 | SALL1 | c.3492C>T (p.Cys1164=) c.3201C>T (p.Cys1067=) c.77-1178C>T (n.77-1178C>T) | dbSNP |
| 16 | g.51138730G>C | CA395878606 | SALL1 | c.3492C>G (p.Cys1164Trp) c.3201C>G (p.Cys1067Trp) c.77-1178C>G (n.77-1178C>G) | |
| 16 | g.51138730G= | CA2222016650 | SALL1 | c.3492C= (p.Cys1164=) c.3201C= (p.Cys1067=) c.77-1178C= (n.77-1178C=) | |
| 16 | g.51138730G>T | CA395878607 | SALL1 | c.3492C>A (p.Cys1164Ter) c.3201C>A (p.Cys1067Ter) c.77-1178C>A (n.77-1178C>A) | |
| 16 | g.51138731C>A | CA395878608 | SALL1 | c.3491G>T (p.Cys1164Phe) c.3200G>T (p.Cys1067Phe) c.77-1179G>T (n.77-1179G>T) | |
| 16 | g.51138731C>G | CA395878609 | SALL1 | c.3491G>C (p.Cys1164Ser) c.3200G>C (p.Cys1067Ser) c.77-1179G>C (n.77-1179G>C) | COSMIC |
| 16 | g.51138731C>T | CA395878610 | SALL1 | c.3491G>A (p.Cys1164Tyr) c.3200G>A (p.Cys1067Tyr) c.77-1179G>A (n.77-1179G>A) | |
| 16 | g.51138731dup | CA645592643 | SALL1 | c.3491dup (p.Cys1164TrpfsTer11) c.3200dup (p.Cys1067TrpfsTer11) c.77-1179dup (n.77-1179dup) | COSMIC |
| 16 | g.51138731_51138732insG | CA495479303 | SALL1 | c.3490_3491insC (p.Cys1164SerfsTer11) c.3199_3200insC (p.Cys1067SerfsTer11) c.77-1180_77-1179insC (n.77-1180_77-1179insC) | |
| 16 | g.51138732A>C | CA395878611 | SALL1 | c.3490T>G (p.Cys1164Gly) c.3199T>G (p.Cys1067Gly) c.77-1180T>G (n.77-1180T>G) | |
| 16 | g.51138732A>G | CA395878612 | SALL1 | c.3490T>C (p.Cys1164Arg) c.3199T>C (p.Cys1067Arg) c.77-1180T>C (n.77-1180T>C) | |
| 16 | g.51138732A>T | CA395878613 | SALL1 | c.3490T>A (p.Cys1164Ser) c.3199T>A (p.Cys1067Ser) c.77-1180T>A (n.77-1180T>A) | |
| 16 | g.51138733A>C | CA495479306 | SALL1 | c.3489T>G (p.Ala1163=) c.3198T>G (p.Ala1066=) c.77-1181T>G (n.77-1181T>G) | |
| 16 | g.51138733A>G | CA495479310 | SALL1 | c.3489T>C (p.Ala1163=) c.3198T>C (p.Ala1066=) c.77-1181T>C (n.77-1181T>C) | |
| 16 | g.51138733A>T | CA495479308 | SALL1 | c.3489T>A (p.Ala1163=) c.3198T>A (p.Ala1066=) c.77-1181T>A (n.77-1181T>A) | |
| 16 | g.51138734G>A | CA395878614 | SALL1 | c.3488C>T (p.Ala1163Val) c.3197C>T (p.Ala1066Val) c.77-1182C>T (n.77-1182C>T) | dbSNP gnomAD v4 |
| 16 | g.51138734G>C | CA395878615 | SALL1 | c.3488C>G (p.Ala1163Gly) c.3197C>G (p.Ala1066Gly) c.77-1182C>G (n.77-1182C>G) | |
| 16 | g.51138734G= | CA2222016653 | SALL1 | c.3488C= (p.Ala1163=) c.3197C= (p.Ala1066=) c.77-1182C= (n.77-1182C=) | |
| 16 | g.51138734G>T | CA395878616 | SALL1 | c.3488C>A (p.Ala1163Asp) c.3197C>A (p.Ala1066Asp) c.77-1182C>A (n.77-1182C>A) | |
| 16 | g.51138735C>A | CA395878618 | SALL1 | c.3487G>T (p.Ala1163Ser) c.3196G>T (p.Ala1066Ser) c.77-1183G>T (n.77-1183G>T) | gnomAD v4 |
| 16 | g.51138735C>G | CA395878619 | SALL1 | c.3487G>C (p.Ala1163Pro) c.3196G>C (p.Ala1066Pro) c.77-1183G>C (n.77-1183G>C) | |
| 16 | g.51138735C>T | CA395878617 | SALL1 | c.3487G>A (p.Ala1163Thr) c.3196G>A (p.Ala1066Thr) c.77-1183G>A (n.77-1183G>A) | |
| 16 | g.51138736A= | CA2222016656 | SALL1 | c.3486T= (p.Phe1162=) c.3195T= (p.Phe1065=) c.77-1184T= (n.77-1184T=) | |
| 16 | g.51138736A>C | CA395878620 | SALL1 | c.3486T>G (p.Phe1162Leu) c.3195T>G (p.Phe1065Leu) c.77-1184T>G (n.77-1184T>G) | |
| 16 | g.51138736A>G | CA495479319 | SALL1 | c.3486T>C (p.Phe1162=) c.3195T>C (p.Phe1065=) c.77-1184T>C (n.77-1184T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138736A>T | CA395878621 | SALL1 | c.3486T>A (p.Phe1162Leu) c.3195T>A (p.Phe1065Leu) c.77-1184T>A (n.77-1184T>A) | |
| 16 | g.51138737A>C | CA395878622 | SALL1 | c.3485T>G (p.Phe1162Cys) c.3194T>G (p.Phe1065Cys) c.77-1185T>G (n.77-1185T>G) | |
| 16 | g.51138737A>G | CA395878623 | SALL1 | c.3485T>C (p.Phe1162Ser) c.3194T>C (p.Phe1065Ser) c.77-1185T>C (n.77-1185T>C) | |
| 16 | g.51138737A>T | CA395878624 | SALL1 | c.3485T>A (p.Phe1162Tyr) c.3194T>A (p.Phe1065Tyr) c.77-1185T>A (n.77-1185T>A) | |
| 16 | g.51138738A>C | CA395878627 | SALL1 | c.3484T>G (p.Phe1162Val) c.3193T>G (p.Phe1065Val) c.77-1186T>G (n.77-1186T>G) | |
| 16 | g.51138738A>G | CA395878625 | SALL1 | c.3484T>C (p.Phe1162Leu) c.3193T>C (p.Phe1065Leu) c.77-1186T>C (n.77-1186T>C) | |
| 16 | g.51138738A>T | CA395878626 | SALL1 | c.3484T>A (p.Phe1162Ile) c.3193T>A (p.Phe1065Ile) c.77-1186T>A (n.77-1186T>A) | |
| 16 | g.51138739G>A | CA495479329 | SALL1 | c.3483C>T (p.Pro1161=) c.3192C>T (p.Pro1064=) c.77-1187C>T (n.77-1187C>T) | |
| 16 | g.51138739G>C | CA495479330 | SALL1 | c.3483C>G (p.Pro1161=) c.3192C>G (p.Pro1064=) c.77-1187C>G (n.77-1187C>G) | |
| 16 | g.51138739G>T | CA495479331 | SALL1 | c.3483C>A (p.Pro1161=) c.3192C>A (p.Pro1064=) c.77-1187C>A (n.77-1187C>A) | |
| 16 | g.51138740G>A | CA395878628 | SALL1 | c.3482C>T (p.Pro1161Leu) c.3191C>T (p.Pro1064Leu) c.77-1188C>T (n.77-1188C>T) | |
| 16 | g.51138740G>C | CA395878629 | SALL1 | c.3482C>G (p.Pro1161Arg) c.3191C>G (p.Pro1064Arg) c.77-1188C>G (n.77-1188C>G) | |
| 16 | g.51138740G>T | CA395878630 | SALL1 | c.3482C>A (p.Pro1161His) c.3191C>A (p.Pro1064His) c.77-1188C>A (n.77-1188C>A) | |
| 16 | g.51138741G>A | CA395878631 | SALL1 | c.3481C>T (p.Pro1161Ser) c.3190C>T (p.Pro1064Ser) c.77-1189C>T (n.77-1189C>T) | |
| 16 | g.51138741G>C | CA395878632 | SALL1 | c.3481C>G (p.Pro1161Ala) c.3190C>G (p.Pro1064Ala) c.77-1189C>G (n.77-1189C>G) | |
| 16 | g.51138741G>T | CA395878633 | SALL1 | c.3481C>A (p.Pro1161Thr) c.3190C>A (p.Pro1064Thr) c.77-1189C>A (n.77-1189C>A) | |
| 16 | g.51138742T>A | CA395878635 | SALL1 | c.3480A>T (p.Lys1160Asn) c.3189A>T (p.Lys1063Asn) c.77-1190A>T (n.77-1190A>T) | |
| 16 | g.51138742T>C | CA495479335 | SALL1 | c.3480A>G (p.Lys1160=) c.3189A>G (p.Lys1063=) c.77-1190A>G (n.77-1190A>G) | |
| 16 | g.51138742T>G | CA395878634 | SALL1 | c.3480A>C (p.Lys1160Asn) c.3189A>C (p.Lys1063Asn) c.77-1190A>C (n.77-1190A>C) | |
| 16 | g.51138743T>A | CA395878636 | SALL1 | c.3479A>T (p.Lys1160Ile) c.3188A>T (p.Lys1063Ile) c.77-1191A>T (n.77-1191A>T) | |
| 16 | g.51138743T>C | CA395878638 | SALL1 | c.3479A>G (p.Lys1160Arg) c.3188A>G (p.Lys1063Arg) c.77-1191A>G (n.77-1191A>G) | |
| 16 | g.51138743T>G | CA395878637 | SALL1 | c.3479A>C (p.Lys1160Thr) c.3188A>C (p.Lys1063Thr) c.77-1191A>C (n.77-1191A>C) | |
| 16 | g.51138744T>A | CA395878639 | SALL1 | c.3478A>T (p.Lys1160Ter) c.3187A>T (p.Lys1063Ter) c.77-1192A>T (n.77-1192A>T) | |
| 16 | g.51138744T>C | CA395878640 | SALL1 | c.3478A>G (p.Lys1160Glu) c.3187A>G (p.Lys1063Glu) c.77-1192A>G (n.77-1192A>G) | |
| 16 | g.51138744T>G | CA395878641 | SALL1 | c.3478A>C (p.Lys1160Gln) c.3187A>C (p.Lys1063Gln) c.77-1192A>C (n.77-1192A>C) | |
| 16 | g.51138745C>A | CA395878642 | SALL1 | c.3477G>T (p.Glu1159Asp) c.3186G>T (p.Glu1062Asp) c.77-1193G>T (n.77-1193G>T) | |
| 16 | g.51138745C>G | CA395878643 | SALL1 | c.3477G>C (p.Glu1159Asp) c.3186G>C (p.Glu1062Asp) c.77-1193G>C (n.77-1193G>C) | |
| 16 | g.51138745C>T | CA495479341 | SALL1 | c.3477G>A (p.Glu1159=) c.3186G>A (p.Glu1062=) c.77-1193G>A (n.77-1193G>A) | |
| 16 | g.51138746T>A | CA395878644 | SALL1 | c.3476A>T (p.Glu1159Val) c.3185A>T (p.Glu1062Val) c.77-1194A>T (n.77-1194A>T) | |
| 16 | g.51138746T>C | CA395878645 | SALL1 | c.3476A>G (p.Glu1159Gly) c.3185A>G (p.Glu1062Gly) c.77-1194A>G (n.77-1194A>G) | |
| 16 | g.51138746T>G | CA395878646 | SALL1 | c.3476A>C (p.Glu1159Ala) c.3185A>C (p.Glu1062Ala) c.77-1194A>C (n.77-1194A>C) | |
| 16 | g.51138747C>A | CA395878647 | SALL1 | c.3475G>T (p.Glu1159Ter) c.3184G>T (p.Glu1062Ter) c.77-1195G>T (n.77-1195G>T) | |
| 16 | g.51138747C>G | CA395878648 | SALL1 | c.3475G>C (p.Glu1159Gln) c.3184G>C (p.Glu1062Gln) c.77-1195G>C (n.77-1195G>C) | |
| 16 | g.51138747C>T | CA395878649 | SALL1 | c.3475G>A (p.Glu1159Lys) c.3184G>A (p.Glu1062Lys) c.77-1195G>A (n.77-1195G>A) | |
| 16 | g.51138748T>A | CA495479348 | SALL1 | c.3474A>T (p.Gly1158=) c.3183A>T (p.Gly1061=) c.77-1196A>T (n.77-1196A>T) | |
| 16 | g.51138748T>C | CA495479349 | SALL1 | c.3474A>G (p.Gly1158=) c.3183A>G (p.Gly1061=) c.77-1196A>G (n.77-1196A>G) | |
| 16 | g.51138748T>G | CA495479350 | SALL1 | c.3474A>C (p.Gly1158=) c.3183A>C (p.Gly1061=) c.77-1196A>C (n.77-1196A>C) | |
| 16 | g.51138749C>A | CA395878652 | SALL1 | c.3473G>T (p.Gly1158Val) c.3182G>T (p.Gly1061Val) c.77-1197G>T (n.77-1197G>T) | |
| 16 | g.51138749C>G | CA395878650 | SALL1 | c.3473G>C (p.Gly1158Ala) c.3182G>C (p.Gly1061Ala) c.77-1197G>C (n.77-1197G>C) | |
| 16 | g.51138749C>T | CA395878651 | SALL1 | c.3473G>A (p.Gly1158Glu) c.3182G>A (p.Gly1061Glu) c.77-1197G>A (n.77-1197G>A) | |
| 16 | g.51138750del | CA2695223338 | SALL1 | c.3473del (p.Gly1158GlufsTer?) c.3182del (p.Gly1061GlufsTer?) c.77-1197del (n.77-1197del) | |
| 16 | g.51138750C>A | CA395878653 | SALL1 | c.3472G>T (p.Gly1158Ter) c.3181G>T (p.Gly1061Ter) c.77-1198G>T (n.77-1198G>T) | |
| 16 | g.51138750C>G | CA395878654 | SALL1 | c.3472G>C (p.Gly1158Arg) c.3181G>C (p.Gly1061Arg) c.77-1198G>C (n.77-1198G>C) | |
| 16 | g.51138750C>T | CA395878655 | SALL1 | c.3472G>A (p.Gly1158Arg) c.3181G>A (p.Gly1061Arg) c.77-1198G>A (n.77-1198G>A) | |
| 16 | g.51138751A= | CA2222016659 | SALL1 | c.3471T= (p.Thr1157=) c.3180T= (p.Thr1060=) c.77-1199T= (n.77-1199T=) | |
| 16 | g.51138751A>C | CA495479358 | SALL1 | c.3471T>G (p.Thr1157=) c.3180T>G (p.Thr1060=) c.77-1199T>G (n.77-1199T>G) | |
| 16 | g.51138751A>G | CA495479359 | SALL1 | c.3471T>C (p.Thr1157=) c.3180T>C (p.Thr1060=) c.77-1199T>C (n.77-1199T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51138751A>T | CA495479360 | SALL1 | c.3471T>A (p.Thr1157=) c.3180T>A (p.Thr1060=) c.77-1199T>A (n.77-1199T>A) | |
| 16 | g.51138752G>A | CA395878656 | SALL1 | c.3470C>T (p.Thr1157Ile) c.3179C>T (p.Thr1060Ile) c.77-1200C>T (n.77-1200C>T) | |
| 16 | g.51138752G>C | CA395878657 | SALL1 | c.3470C>G (p.Thr1157Ser) c.3179C>G (p.Thr1060Ser) c.77-1200C>G (n.77-1200C>G) | |
| 16 | g.51138752G>T | CA395878658 | SALL1 | c.3470C>A (p.Thr1157Asn) c.3179C>A (p.Thr1060Asn) c.77-1200C>A (n.77-1200C>A) | |
| 16 | g.51138753T>A | CA395878659 | SALL1 | c.3469A>T (p.Thr1157Ser) c.3178A>T (p.Thr1060Ser) c.77-1201A>T (n.77-1201A>T) | |
| 16 | g.51138753T>C | CA395878660 | SALL1 | c.3469A>G (p.Thr1157Ala) c.3178A>G (p.Thr1060Ala) c.77-1201A>G (n.77-1201A>G) | |
| 16 | g.51138753T>G | CA395878661 | SALL1 | c.3469A>C (p.Thr1157Pro) c.3178A>C (p.Thr1060Pro) c.77-1201A>C (n.77-1201A>C) | |
| 16 | g.51138754G>A | CA495479364 | SALL1 | c.3468C>T (p.His1156=) c.3177C>T (p.His1059=) c.77-1202C>T (n.77-1202C>T) | |
| 16 | g.51138754G>C | CA395878662 | SALL1 | c.3468C>G (p.His1156Gln) c.3177C>G (p.His1059Gln) c.77-1202C>G (n.77-1202C>G) | |
| 16 | g.51138754G>T | CA395878663 | SALL1 | c.3468C>A (p.His1156Gln) c.3177C>A (p.His1059Gln) c.77-1202C>A (n.77-1202C>A) | |
| 16 | g.51138755T>A | CA395878665 | SALL1 | c.3467A>T (p.His1156Leu) c.3176A>T (p.His1059Leu) c.77-1203A>T (n.77-1203A>T) | |
| 16 | g.51138755T>C | CA395878666 | SALL1 | c.3467A>G (p.His1156Arg) c.3176A>G (p.His1059Arg) c.77-1203A>G (n.77-1203A>G) | |
| 16 | g.51138755T>G | CA395878664 | SALL1 | c.3467A>C (p.His1156Pro) c.3176A>C (p.His1059Pro) c.77-1203A>C (n.77-1203A>C) | |
| 16 | g.51138756G>A | CA395878667 | SALL1 | c.3466C>T (p.His1156Tyr) c.3175C>T (p.His1059Tyr) c.77-1204C>T (n.77-1204C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138756G>C | CA395878668 | SALL1 | c.3466C>G (p.His1156Asp) c.3175C>G (p.His1059Asp) c.77-1204C>G (n.77-1204C>G) | |
| 16 | g.51138756G= | CA2222016662 | SALL1 | c.3466C= (p.His1156=) c.3175C= (p.His1059=) c.77-1204C= (n.77-1204C=) | |
| 16 | g.51138756G>T | CA395878669 | SALL1 | c.3466C>A (p.His1156Asn) c.3175C>A (p.His1059Asn) c.77-1204C>A (n.77-1204C>A) | |
| 16 | g.51138757A= | CA2222016667 | SALL1 | c.3465T= (p.Thr1155=) c.3174T= (p.Thr1058=) c.77-1205T= (n.77-1205T=) | |
| 16 | g.51138757A>C | CA495479381 | SALL1 | c.3465T>G (p.Thr1155=) c.3174T>G (p.Thr1058=) c.77-1205T>G (n.77-1205T>G) | |
| 16 | g.51138757A>G | CA495479383 | SALL1 | c.3465T>C (p.Thr1155=) c.3174T>C (p.Thr1058=) c.77-1205T>C (n.77-1205T>C) | dbSNP |
| 16 | g.51138757A>T | CA495479385 | SALL1 | c.3465T>A (p.Thr1155=) c.3174T>A (p.Thr1058=) c.77-1205T>A (n.77-1205T>A) | |
| 16 | g.51138758G>A | CA8052920 | SALL1 | c.3464C>T (p.Thr1155Ile) c.3173C>T (p.Thr1058Ile) c.77-1206C>T (n.77-1206C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.51138758G>C | CA395878670 | SALL1 | c.3464C>G (p.Thr1155Ser) c.3173C>G (p.Thr1058Ser) c.77-1206C>G (n.77-1206C>G) | |
| 16 | g.51138758G= | CA2222016671 | SALL1 | c.3464C= (p.Thr1155=) c.3173C= (p.Thr1058=) c.77-1206C= (n.77-1206C=) | |
| 16 | g.51138758G>T | CA395878671 | SALL1 | c.3464C>A (p.Thr1155Asn) c.3173C>A (p.Thr1058Asn) c.77-1206C>A (n.77-1206C>A) | |
| 16 | g.51138759T>A | CA395878672 | SALL1 | c.3463A>T (p.Thr1155Ser) c.3172A>T (p.Thr1058Ser) c.77-1207A>T (n.77-1207A>T) | |
| 16 | g.51138759T>C | CA395878673 | SALL1 | c.3463A>G (p.Thr1155Ala) c.3172A>G (p.Thr1058Ala) c.77-1207A>G (n.77-1207A>G) | |
| 16 | g.51138759T>G | CA395878674 | SALL1 | c.3463A>C (p.Thr1155Pro) c.3172A>C (p.Thr1058Pro) c.77-1207A>C (n.77-1207A>C) | |
| 16 | g.51138760T>A | CA395878675 | SALL1 | c.3462A>T (p.Arg1154Ser) c.3171A>T (p.Arg1057Ser) c.77-1208A>T (n.77-1208A>T) | |
| 16 | g.51138760T>C | CA495479394 | SALL1 | c.3462A>G (p.Arg1154=) c.3171A>G (p.Arg1057=) c.77-1208A>G (n.77-1208A>G) | |
| 16 | g.51138760T>G | CA395878676 | SALL1 | c.3462A>C (p.Arg1154Ser) c.3171A>C (p.Arg1057Ser) c.77-1208A>C (n.77-1208A>C) | |
| 16 | g.51138761C>A | CA395878677 | SALL1 | c.3461G>T (p.Arg1154Ile) c.3170G>T (p.Arg1057Ile) c.77-1209G>T (n.77-1209G>T) | COSMIC |
| 16 | g.51138761C>G | CA395878678 | SALL1 | c.3461G>C (p.Arg1154Thr) c.3170G>C (p.Arg1057Thr) c.77-1209G>C (n.77-1209G>C) | |
| 16 | g.51138761C>T | CA395878679 | SALL1 | c.3461G>A (p.Arg1154Lys) c.3170G>A (p.Arg1057Lys) c.77-1209G>A (n.77-1209G>A) | |
| 16 | g.51138762T>A | CA395878680 | SALL1 | c.3460A>T (p.Arg1154Ter) c.3169A>T (p.Arg1057Ter) c.77-1210A>T (n.77-1210A>T) | |
| 16 | g.51138762T>C | CA395878681 | SALL1 | c.3460A>G (p.Arg1154Gly) c.3169A>G (p.Arg1057Gly) c.77-1210A>G (n.77-1210A>G) | |
| 16 | g.51138762T>G | CA495479402 | SALL1 | c.3460A>C (p.Arg1154=) c.3169A>C (p.Arg1057=) c.77-1210A>C (n.77-1210A>C) | |
| 16 | g.51138763C>A | CA395878682 | SALL1 | c.3459G>T (p.Glu1153Asp) c.3168G>T (p.Glu1056Asp) c.77-1211G>T (n.77-1211G>T) | |
| 16 | g.51138763C>G | CA395878683 | SALL1 | c.3459G>C (p.Glu1153Asp) c.3168G>C (p.Glu1056Asp) c.77-1211G>C (n.77-1211G>C) | |
| 16 | g.51138763C>T | CA495479407 | SALL1 | c.3459G>A (p.Glu1153=) c.3168G>A (p.Glu1056=) c.77-1211G>A (n.77-1211G>A) | gnomAD v4 |
| 16 | g.51138764T>A | CA395878684 | SALL1 | c.3458A>T (p.Glu1153Val) c.3167A>T (p.Glu1056Val) c.77-1212A>T (n.77-1212A>T) | |
| 16 | g.51138764T>C | CA395878685 | SALL1 | c.3458A>G (p.Glu1153Gly) c.3167A>G (p.Glu1056Gly) c.77-1212A>G (n.77-1212A>G) | gnomAD v4 |
| 16 | g.51138764T>G | CA395878686 | SALL1 | c.3458A>C (p.Glu1153Ala) c.3167A>C (p.Glu1056Ala) c.77-1212A>C (n.77-1212A>C) | |
| 16 | g.51138765C>A | CA395878687 | SALL1 | c.3457G>T (p.Glu1153Ter) c.3166G>T (p.Glu1056Ter) c.77-1213G>T (n.77-1213G>T) | |
| 16 | g.51138765C= | CA2222016678 | SALL1 | c.3457G= (p.Glu1153=) c.3166G= (p.Glu1056=) c.77-1213G= (n.77-1213G=) | |
| 16 | g.51138765C>G | CA395878688 | SALL1 | c.3457G>C (p.Glu1153Gln) c.3166G>C (p.Glu1056Gln) c.77-1213G>C (n.77-1213G>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51138765C>T | CA8052921 | SALL1 | c.3457G>A (p.Glu1153Lys) c.3166G>A (p.Glu1056Lys) c.77-1213G>A (n.77-1213G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.51138766G>A | CA8052922 | SALL1 | c.3456C>T (p.His1152=) c.3165C>T (p.His1055=) c.77-1214C>T (n.77-1214C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138766G>C | CA395878689 | SALL1 | c.3456C>G (p.His1152Gln) c.3165C>G (p.His1055Gln) c.77-1214C>G (n.77-1214C>G) | gnomAD v4 |
| 16 | g.51138766G= | CA2222016686 | SALL1 | c.3456C= (p.His1152=) c.3165C= (p.His1055=) c.77-1214C= (n.77-1214C=) | |
| 16 | g.51138766G>T | CA395878690 | SALL1 | c.3456C>A (p.His1152Gln) c.3165C>A (p.His1055Gln) c.77-1214C>A (n.77-1214C>A) | |
| 16 | g.51138767T>A | CA395878691 | SALL1 | c.3455A>T (p.His1152Leu) c.3164A>T (p.His1055Leu) c.77-1215A>T (n.77-1215A>T) | |
| 16 | g.51138767T>C | CA395878692 | SALL1 | c.3455A>G (p.His1152Arg) c.3164A>G (p.His1055Arg) c.77-1215A>G (n.77-1215A>G) | |
| 16 | g.51138767T>G | CA395878693 | SALL1 | c.3455A>C (p.His1152Pro) c.3164A>C (p.His1055Pro) c.77-1215A>C (n.77-1215A>C) | |
| 16 | g.51138768G>A | CA395878696 | SALL1 | c.3454C>T (p.His1152Tyr) c.3163C>T (p.His1055Tyr) c.77-1216C>T (n.77-1216C>T) | |
| 16 | g.51138768G>C | CA395878695 | SALL1 | c.3454C>G (p.His1152Asp) c.3163C>G (p.His1055Asp) c.77-1216C>G (n.77-1216C>G) | |
| 16 | g.51138768G>T | CA395878694 | SALL1 | c.3454C>A (p.His1152Asn) c.3163C>A (p.His1055Asn) c.77-1216C>A (n.77-1216C>A) | |
| 16 | g.51138768_51138769delinsGA | CA2222016691 | SALL1 | c.3453_3454delinsTC (p.Ile1151=) c.3162_3163delinsTC (p.Ile1054=) c.77-1217_77-1216delinsTC (n.77-1217_77-1216delinsTC) | |
| 16 | g.51138769A>C | CA395878697 | SALL1 | c.3453T>G (p.Ile1151Met) c.3162T>G (p.Ile1054Met) c.77-1217T>G (n.77-1217T>G) | gnomAD v4 |
| 16 | g.51138769A>G | CA495479420 | SALL1 | c.3453T>C (p.Ile1151=) c.3162T>C (p.Ile1054=) c.77-1217T>C (n.77-1217T>C) | gnomAD v4 |
| 16 | g.51138769A>T | CA495479424 | SALL1 | c.3453T>A (p.Ile1151=) c.3162T>A (p.Ile1054=) c.77-1217T>A (n.77-1217T>A) | |
| 16 | g.51138770del | CA721413494 | SALL1 | c.3453del (p.His1152ThrfsTer?) c.3162del (p.His1055ThrfsTer?) c.77-1217del (n.77-1217del) | dbSNP |
| 16 | g.51138770A>C | CA395878698 | SALL1 | c.3452T>G (p.Ile1151Ser) c.3161T>G (p.Ile1054Ser) c.77-1218T>G (n.77-1218T>G) | |
| 16 | g.51138770A>G | CA395878700 | SALL1 | c.3452T>C (p.Ile1151Thr) c.3161T>C (p.Ile1054Thr) c.77-1218T>C (n.77-1218T>C) | |
| 16 | g.51138770A>T | CA395878699 | SALL1 | c.3452T>A (p.Ile1151Asn) c.3161T>A (p.Ile1054Asn) c.77-1218T>A (n.77-1218T>A) | |
| 16 | g.51138771T>A | CA395878701 | SALL1 | c.3451A>T (p.Ile1151Phe) c.3160A>T (p.Ile1054Phe) c.77-1219A>T (n.77-1219A>T) | |
| 16 | g.51138771T>C | CA395878703 | SALL1 | c.3451A>G (p.Ile1151Val) c.3160A>G (p.Ile1054Val) c.77-1219A>G (n.77-1219A>G) | |
| 16 | g.51138771T>G | CA395878702 | SALL1 | c.3451A>C (p.Ile1151Leu) c.3160A>C (p.Ile1054Leu) c.77-1219A>C (n.77-1219A>C) | |
| 16 | g.51138772C>A | CA395878704 | SALL1 | c.3450G>T (p.Gln1150His) c.3159G>T (p.Gln1053His) c.77-1220G>T (n.77-1220G>T) | |
| 16 | g.51138772C= | CA2222016695 | SALL1 | c.3450G= (p.Gln1150=) c.3159G= (p.Gln1053=) c.77-1220G= (n.77-1220G=) | |
| 16 | g.51138772C>G | CA395878705 | SALL1 | c.3450G>C (p.Gln1150His) c.3159G>C (p.Gln1053His) c.77-1220G>C (n.77-1220G>C) | |
| 16 | g.51138772C>T | CA8052923 | SALL1 | c.3450G>A (p.Gln1150=) c.3159G>A (p.Gln1053=) c.77-1220G>A (n.77-1220G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138773T>A | CA395878706 | SALL1 | c.3449A>T (p.Gln1150Leu) c.3158A>T (p.Gln1053Leu) c.77-1221A>T (n.77-1221A>T) | |
| 16 | g.51138773T>C | CA395878707 | SALL1 | c.3449A>G (p.Gln1150Arg) c.3158A>G (p.Gln1053Arg) c.77-1221A>G (n.77-1221A>G) | |
| 16 | g.51138773T>G | CA395878708 | SALL1 | c.3449A>C (p.Gln1150Pro) c.3158A>C (p.Gln1053Pro) c.77-1221A>C (n.77-1221A>C) | |
| 16 | g.51138774G>A | CA395878709 | SALL1 | c.3448C>T (p.Gln1150Ter) c.3157C>T (p.Gln1053Ter) c.77-1222C>T (n.77-1222C>T) | |
| 16 | g.51138774G>C | CA395878710 | SALL1 | c.3448C>G (p.Gln1150Glu) c.3157C>G (p.Gln1053Glu) c.77-1222C>G (n.77-1222C>G) | |
| 16 | g.51138774G>T | CA395878711 | SALL1 | c.3448C>A (p.Gln1150Lys) c.3157C>A (p.Gln1053Lys) c.77-1222C>A (n.77-1222C>A) | |
| 16 | g.51138775C>A | CA495479452 | SALL1 | c.3447G>T (p.Leu1149=) c.3156G>T (p.Leu1052=) c.77-1223G>T (n.77-1223G>T) | |
| 16 | g.51138775C= | CA2222016700 | SALL1 | c.3447G= (p.Leu1149=) c.3156G= (p.Leu1052=) c.77-1223G= (n.77-1223G=) | |
| 16 | g.51138775C>G | CA495479449 | SALL1 | c.3447G>C (p.Leu1149=) c.3156G>C (p.Leu1052=) c.77-1223G>C (n.77-1223G>C) | |
| 16 | g.51138775C>T | CA8052924 | SALL1 | c.3447G>A (p.Leu1149=) c.3156G>A (p.Leu1052=) c.77-1223G>A (n.77-1223G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138776A= | CA2222016706 | SALL1 | c.3446T= (p.Leu1149=) c.3155T= (p.Leu1052=) c.77-1224T= (n.77-1224T=) | |
| 16 | g.51138776A>C | CA395878714 | SALL1 | c.3446T>G (p.Leu1149Arg) c.3155T>G (p.Leu1052Arg) c.77-1224T>G (n.77-1224T>G) | |
| 16 | g.51138776A>G | CA395878713 | SALL1 | c.3446T>C (p.Leu1149Pro) c.3155T>C (p.Leu1052Pro) c.77-1224T>C (n.77-1224T>C) | |
| 16 | g.51138776A>T | CA395878712 | SALL1 | c.3446T>A (p.Leu1149Gln) c.3155T>A (p.Leu1052Gln) c.77-1224T>A (n.77-1224T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138777G>A | CA495479458 | SALL1 | c.3445C>T (p.Leu1149=) c.3154C>T (p.Leu1052=) c.77-1225C>T (n.77-1225C>T) | gnomAD v4 |
| 16 | g.51138777G>C | CA395878715 | SALL1 | c.3445C>G (p.Leu1149Val) c.3154C>G (p.Leu1052Val) c.77-1225C>G (n.77-1225C>G) | gnomAD v4 |
| 16 | g.51138777G>T | CA395878716 | SALL1 | c.3445C>A (p.Leu1149Met) c.3154C>A (p.Leu1052Met) c.77-1225C>A (n.77-1225C>A) | |
| 16 | g.51138778G>A | CA495479461 | SALL1 | c.3444C>T (p.Ala1148=) c.3153C>T (p.Ala1051=) c.77-1226C>T (n.77-1226C>T) | |
| 16 | g.51138778G>C | CA495479463 | SALL1 | c.3444C>G (p.Ala1148=) c.3153C>G (p.Ala1051=) c.77-1226C>G (n.77-1226C>G) | |
| 16 | g.51138778G>T | CA495479465 | SALL1 | c.3444C>A (p.Ala1148=) c.3153C>A (p.Ala1051=) c.77-1226C>A (n.77-1226C>A) | |
| 16 | g.51138779G>A | CA395878717 | SALL1 | c.3443C>T (p.Ala1148Val) c.3152C>T (p.Ala1051Val) c.77-1227C>T (n.77-1227C>T) | |
| 16 | g.51138779G>C | CA395878718 | SALL1 | c.3443C>G (p.Ala1148Gly) c.3152C>G (p.Ala1051Gly) c.77-1227C>G (n.77-1227C>G) | |
| 16 | g.51138779G>T | CA395878719 | SALL1 | c.3443C>A (p.Ala1148Asp) c.3152C>A (p.Ala1051Asp) c.77-1227C>A (n.77-1227C>A) | |
| 16 | g.51138780C>A | CA395878720 | SALL1 | c.3442G>T (p.Ala1148Ser) c.3151G>T (p.Ala1051Ser) c.77-1228G>T (n.77-1228G>T) | |
| 16 | g.51138780C>G | CA395878721 | SALL1 | c.3442G>C (p.Ala1148Pro) c.3151G>C (p.Ala1051Pro) c.77-1228G>C (n.77-1228G>C) | |
| 16 | g.51138780C>T | CA395878722 | SALL1 | c.3442G>A (p.Ala1148Thr) c.3151G>A (p.Ala1051Thr) c.77-1228G>A (n.77-1228G>A) | |
| 16 | g.51138781A= | CA2222016713 | SALL1 | c.3441T= (p.Ser1147=) c.3150T= (p.Ser1050=) c.77-1229T= (n.77-1229T=) | |
| 16 | g.51138781A>C | CA395878723 | SALL1 | c.3441T>G (p.Ser1147Arg) c.3150T>G (p.Ser1050Arg) c.77-1229T>G (n.77-1229T>G) | |
| 16 | g.51138781A>G | CA8052925 | SALL1 | c.3441T>C (p.Ser1147=) c.3150T>C (p.Ser1050=) c.77-1229T>C (n.77-1229T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51138781A>T | CA395878724 | SALL1 | c.3441T>A (p.Ser1147Arg) c.3150T>A (p.Ser1050Arg) c.77-1229T>A (n.77-1229T>A) | |
| 16 | g.51138782C>A | CA395878726 | SALL1 | c.3440G>T (p.Ser1147Ile) c.3149G>T (p.Ser1050Ile) c.77-1230G>T (n.77-1230G>T) | |
| 16 | g.51138782C>G | CA395878727 | SALL1 | c.3440G>C (p.Ser1147Thr) c.3149G>C (p.Ser1050Thr) c.77-1230G>C (n.77-1230G>C) | gnomAD v4 |
| 16 | g.51138782C>T | CA395878725 | SALL1 | c.3440G>A (p.Ser1147Asn) c.3149G>A (p.Ser1050Asn) c.77-1230G>A (n.77-1230G>A) | gnomAD v4 |
| 16 | g.51138783T>A | CA395878728 | SALL1 | c.3439A>T (p.Ser1147Cys) c.3148A>T (p.Ser1050Cys) c.77-1231A>T (n.77-1231A>T) | |
| 16 | g.51138783T>C | CA395878729 | SALL1 | c.3439A>G (p.Ser1147Gly) c.3148A>G (p.Ser1050Gly) c.77-1231A>G (n.77-1231A>G) | |
| 16 | g.51138783T>G | CA395878730 | SALL1 | c.3439A>C (p.Ser1147Arg) c.3148A>C (p.Ser1050Arg) c.77-1231A>C (n.77-1231A>C) | |
| 16 | g.51138784C>A | CA495479484 | SALL1 | c.3438G>T (p.Ser1146=) c.3147G>T (p.Ser1049=) c.77-1232G>T (n.77-1232G>T) | |
| 16 | g.51138784C= | CA2222016716 | SALL1 | c.3438G= (p.Ser1146=) c.3147G= (p.Ser1049=) c.77-1232G= (n.77-1232G=) | |
| 16 | g.51138784C>G | CA495479485 | SALL1 | c.3438G>C (p.Ser1146=) c.3147G>C (p.Ser1049=) c.77-1232G>C (n.77-1232G>C) | |
| 16 | g.51138784C>T | CA8052926 | SALL1 | c.3438G>A (p.Ser1146=) c.3147G>A (p.Ser1049=) c.77-1232G>A (n.77-1232G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138784_51138787delinsCGAT | CA2222016719 | SALL1 | c.3435_3438delinsATCG (p.Ser1145=) c.3144_3147delinsATCG (p.Ser1048=) c.77-1235_77-1232delinsATCG (n.77-1235_77-1232delinsATCG) | |
| 16 | g.51138785G>A | CA8052927 | SALL1 | c.3437C>T (p.Ser1146Leu) c.3146C>T (p.Ser1049Leu) c.77-1233C>T (n.77-1233C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138785G>C | CA395878731 | SALL1 | c.3437C>G (p.Ser1146Trp) c.3146C>G (p.Ser1049Trp) c.77-1233C>G (n.77-1233C>G) | gnomAD v4 |
| 16 | g.51138785G= | CA2222016723 | SALL1 | c.3437C= (p.Ser1146=) c.3146C= (p.Ser1049=) c.77-1233C= (n.77-1233C=) | |
| 16 | g.51138785G>T | CA395878732 | SALL1 | c.3437C>A (p.Ser1146Ter) c.3146C>A (p.Ser1049Ter) c.77-1233C>A (n.77-1233C>A) | |
| 16 | g.51138785_51138786insCCGAACCACTCGTGGACACCGGGTTCGGCAGGGTCGCCGAAGACGGCGCCAACGGCAACTGAACTGACAGCGACAAATCGTGGCTGACCGCGTGCATCGCCGCCACCGG | CA2807012902 | SALL1 | c.3437_3438insCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCAGTTCAGTTGCCGTTGGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGGC (p.Ser1147GlyfsTer64) c.3146_3147insCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCAGTTCAGTTGCCGTTGGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGGC (p.Ser1050GlyfsTer64) c.77-1233_77-1232insCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCAGTTCAGTTGCCGTTGGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGGC (n.77-1233_77-1232insCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCAGTTCAGTTGCCGTTGGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGGC) | |
| 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.51138785_51138786insCCGAACCACTCGTGGACACCGGGTTCGGCAGGGTCGCCGAAGACGGCGCTAGCGGCAGCTGAACCGACAGCGACAAATCGTGGCTGACCGCGTGCATCGCCGCCACCGGATCAGACAGGCGCACACCCGGC | CA2520747208 | SALL1 | c.3436_3437insGCCGGGTGTGCGCCTGTCTGATCCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCGGTTCAGCTGCCGCTAGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGG (p.Ser1146CysfsTer28) c.3145_3146insGCCGGGTGTGCGCCTGTCTGATCCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCGGTTCAGCTGCCGCTAGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGG (p.Ser1049CysfsTer28) c.77-1234_77-1233insGCCGGGTGTGCGCCTGTCTGATCCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCGGTTCAGCTGCCGCTAGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGG (n.77-1234_77-1233insGCCGGGTGTGCGCCTGTCTGATCCGGTGGCGGCGATGCACGCGGTCAGCCACGATTTGTCGCTGTCGGTTCAGCTGCCGCTAGCGCCGTCTTCGGCGACCCTGCCGAACCCGGTGTCCACGAGTGGTTCGG) | |
| 16 | g.51138786A>C | CA395878733 | SALL1 | c.3436T>G (p.Ser1146Ala) c.3145T>G (p.Ser1049Ala) c.77-1234T>G (n.77-1234T>G) | |
| 16 | g.51138786A>G | CA395878735 | SALL1 | c.3436T>C (p.Ser1146Pro) c.3145T>C (p.Ser1049Pro) c.77-1234T>C (n.77-1234T>C) | |
| 16 | g.51138786A>T | CA395878734 | SALL1 | c.3436T>A (p.Ser1146Thr) c.3145T>A (p.Ser1049Thr) c.77-1234T>A (n.77-1234T>A) | gnomAD v4 |
| 16 | g.51138787T>A | CA495479491 | SALL1 | c.3435A>T (p.Ser1145=) c.3144A>T (p.Ser1048=) c.77-1235A>T (n.77-1235A>T) | |
| 16 | g.51138787T>C | CA495479495 | SALL1 | c.3435A>G (p.Ser1145=) c.3144A>G (p.Ser1048=) c.77-1235A>G (n.77-1235A>G) | gnomAD v4 |
| 16 | g.51138787T>G | CA8052928 | SALL1 | c.3435A>C (p.Ser1145=) c.3144A>C (p.Ser1048=) c.77-1235A>C (n.77-1235A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51138787T= | CA2222016730 | SALL1 | c.3435A= (p.Ser1145=) c.3144A= (p.Ser1048=) c.77-1235A= (n.77-1235A=) | |
| 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.51138788G>A | CA395878736 | SALL1 | c.3434C>T (p.Ser1145Leu) c.3143C>T (p.Ser1048Leu) c.77-1236C>T (n.77-1236C>T) | |
| 16 | g.51138788G>C | CA395878737 | SALL1 | c.3434C>G (p.Ser1145Ter) c.3143C>G (p.Ser1048Ter) c.77-1236C>G (n.77-1236C>G) | |
| 16 | g.51138788G>T | CA395878738 | SALL1 | c.3434C>A (p.Ser1145Ter) c.3143C>A (p.Ser1048Ter) c.77-1236C>A (n.77-1236C>A) | |
| 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) |