WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.9832230G>A | CA379645465 | SBF2 | c.2350C>T (p.Gln784Ter) c.3646C>T (p.Gln1216Ter) c.3532C>T (p.Gln1178Ter) c.3253C>T (p.Gln1085Ter) c.3508C>T (p.Gln1170Ter) n.817C>T c.2540C>T (n.2540C>T) c.3640C>T (p.Gln1214Ter) c.2445C>T (n.2445C>T) c.3517C>T (p.Gln1173Ter) c.2475C>T (n.2475C>T) c.297C>T c.3505C>T (p.Gln1169Ter) n.3784C>T | gnomAD v4 |
| 11 | g.9832230G>C | CA293147 | SBF2 | c.2350C>G (p.Gln784Glu) c.3646C>G (p.Gln1216Glu) c.3532C>G (p.Gln1178Glu) c.3253C>G (p.Gln1085Glu) c.3508C>G (p.Gln1170Glu) n.817C>G c.2540C>G (n.2540C>G) c.3640C>G (p.Gln1214Glu) c.2445C>G (n.2445C>G) c.3517C>G (p.Gln1173Glu) c.2475C>G (n.2475C>G) c.297C>G c.3505C>G (p.Gln1169Glu) n.3784C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.9832230G= | CA1630848588 | SBF2 | c.2350C= (p.Gln784=) c.3646C= (p.Gln1216=) c.3532C= (p.Gln1178=) c.3253C= (p.Gln1085=) c.3508C= (p.Gln1170=) n.817C= c.2540C= (n.2540C=) c.3640C= (p.Gln1214=) c.2445C= (n.2445C=) c.3517C= (p.Gln1173=) c.2475C= (n.2475C=) c.297C= c.3505C= (p.Gln1169=) n.3784C= | |
| 11 | g.9832230G>T | CA379645466 | SBF2 | c.2350C>A (p.Gln784Lys) c.3646C>A (p.Gln1216Lys) c.3532C>A (p.Gln1178Lys) c.3253C>A (p.Gln1085Lys) c.3508C>A (p.Gln1170Lys) n.817C>A c.2540C>A (n.2540C>A) c.3640C>A (p.Gln1214Lys) c.2445C>A (n.2445C>A) c.3517C>A (p.Gln1173Lys) c.2475C>A (n.2475C>A) c.297C>A c.3505C>A (p.Gln1169Lys) n.3784C>A | |
| 11 | g.9832231A>C | CA473070437 | SBF2 | c.2349T>G (p.Pro783=) c.3645T>G (p.Pro1215=) c.3531T>G (p.Pro1177=) c.3252T>G (p.Pro1084=) c.3507T>G (p.Pro1169=) n.816T>G c.2539T>G (n.2539T>G) c.3639T>G (p.Pro1213=) c.2444T>G (n.2444T>G) c.3516T>G (p.Pro1172=) c.2474T>G (n.2474T>G) c.296T>G c.3504T>G (p.Pro1168=) n.3783T>G | gnomAD v4 |
| 11 | g.9832231A>G | CA473070438 | SBF2 | c.2349T>C (p.Pro783=) c.3645T>C (p.Pro1215=) c.3531T>C (p.Pro1177=) c.3252T>C (p.Pro1084=) c.3507T>C (p.Pro1169=) n.816T>C c.2539T>C (n.2539T>C) c.3639T>C (p.Pro1213=) c.2444T>C (n.2444T>C) c.3516T>C (p.Pro1172=) c.2474T>C (n.2474T>C) c.296T>C c.3504T>C (p.Pro1168=) n.3783T>C | gnomAD v4 |
| 11 | g.9832231A>T | CA473070440 | SBF2 | c.2349T>A (p.Pro783=) c.3645T>A (p.Pro1215=) c.3531T>A (p.Pro1177=) c.3252T>A (p.Pro1084=) c.3507T>A (p.Pro1169=) n.816T>A c.2539T>A (n.2539T>A) c.3639T>A (p.Pro1213=) c.2444T>A (n.2444T>A) c.3516T>A (p.Pro1172=) c.2474T>A (n.2474T>A) c.296T>A c.3504T>A (p.Pro1168=) n.3783T>A | gnomAD v3 gnomAD v4 |
| 11 | g.9832232G>A | CA379645467 | SBF2 | c.2348C>T (p.Pro783Leu) c.3644C>T (p.Pro1215Leu) c.3530C>T (p.Pro1177Leu) c.3251C>T (p.Pro1084Leu) c.3506C>T (p.Pro1169Leu) n.815C>T c.2538C>T (n.2538C>T) c.3638C>T (p.Pro1213Leu) c.2443C>T (n.2443C>T) c.3515C>T (p.Pro1172Leu) c.2473C>T (n.2473C>T) c.295C>T c.3503C>T (p.Pro1168Leu) n.3782C>T | |
| 11 | g.9832232G>C | CA379645468 | SBF2 | c.2348C>G (p.Pro783Arg) c.3644C>G (p.Pro1215Arg) c.3530C>G (p.Pro1177Arg) c.3251C>G (p.Pro1084Arg) c.3506C>G (p.Pro1169Arg) n.815C>G c.2538C>G (n.2538C>G) c.3638C>G (p.Pro1213Arg) c.2443C>G (n.2443C>G) c.3515C>G (p.Pro1172Arg) c.2473C>G (n.2473C>G) c.295C>G c.3503C>G (p.Pro1168Arg) n.3782C>G | ClinVar dbSNP |
| 11 | g.9832232G= | CA1951790146 | SBF2 | c.2348C= (p.Pro783=) c.3644C= (p.Pro1215=) c.3530C= (p.Pro1177=) c.3251C= (p.Pro1084=) c.3506C= (p.Pro1169=) n.815C= c.2538C= (n.2538C=) c.3638C= (p.Pro1213=) c.2443C= (n.2443C=) c.3515C= (p.Pro1172=) c.2473C= (n.2473C=) c.295C= c.3503C= (p.Pro1168=) n.3782C= | |
| 11 | g.9832232G>T | CA379645469 | SBF2 | c.2348C>A (p.Pro783His) c.3644C>A (p.Pro1215His) c.3530C>A (p.Pro1177His) c.3251C>A (p.Pro1084His) c.3506C>A (p.Pro1169His) n.815C>A c.2538C>A (n.2538C>A) c.3638C>A (p.Pro1213His) c.2443C>A (n.2443C>A) c.3515C>A (p.Pro1172His) c.2473C>A (n.2473C>A) c.295C>A c.3503C>A (p.Pro1168His) n.3782C>A | |
| 11 | g.9832233G>A | CA379645470 | SBF2 | c.2347C>T (p.Pro783Ser) c.3643C>T (p.Pro1215Ser) c.3529C>T (p.Pro1177Ser) c.3250C>T (p.Pro1084Ser) c.3505C>T (p.Pro1169Ser) n.814C>T c.2537C>T (n.2537C>T) c.3637C>T (p.Pro1213Ser) c.2442C>T (n.2442C>T) c.3514C>T (p.Pro1172Ser) c.2472C>T (n.2472C>T) c.294C>T c.3502C>T (p.Pro1168Ser) n.3781C>T | |
| 11 | g.9832233G>C | CA379645471 | SBF2 | c.2347C>G (p.Pro783Ala) c.3643C>G (p.Pro1215Ala) c.3529C>G (p.Pro1177Ala) c.3250C>G (p.Pro1084Ala) c.3505C>G (p.Pro1169Ala) n.814C>G c.2537C>G (n.2537C>G) c.3637C>G (p.Pro1213Ala) c.2442C>G (n.2442C>G) c.3514C>G (p.Pro1172Ala) c.2472C>G (n.2472C>G) c.294C>G c.3502C>G (p.Pro1168Ala) n.3781C>G | |
| 11 | g.9832233G>T | CA379645472 | SBF2 | c.2347C>A (p.Pro783Thr) c.3643C>A (p.Pro1215Thr) c.3529C>A (p.Pro1177Thr) c.3250C>A (p.Pro1084Thr) c.3505C>A (p.Pro1169Thr) n.814C>A c.2537C>A (n.2537C>A) c.3637C>A (p.Pro1213Thr) c.2442C>A (n.2442C>A) c.3514C>A (p.Pro1172Thr) c.2472C>A (n.2472C>A) c.294C>A c.3502C>A (p.Pro1168Thr) n.3781C>A | gnomAD v4 |
| 11 | g.9832234G>A | CA473070445 | SBF2 | c.2346C>T (p.Ser782=) c.3642C>T (p.Ser1214=) c.3528C>T (p.Ser1176=) c.3249C>T (p.Ser1083=) c.3504C>T (p.Ser1168=) n.813C>T c.2536C>T (n.2536C>T) c.3636C>T (p.Ser1212=) c.2441C>T (n.2441C>T) c.3513C>T (p.Ser1171=) c.2471C>T (n.2471C>T) c.293C>T c.3501C>T (p.Ser1167=) n.3780C>T | ClinVar dbSNP COSMIC |
| 11 | g.9832234G>C | CA473070446 | SBF2 | c.2346C>G (p.Ser782=) c.3642C>G (p.Ser1214=) c.3528C>G (p.Ser1176=) c.3249C>G (p.Ser1083=) c.3504C>G (p.Ser1168=) n.813C>G c.2536C>G (n.2536C>G) c.3636C>G (p.Ser1212=) c.2441C>G (n.2441C>G) c.3513C>G (p.Ser1171=) c.2471C>G (n.2471C>G) c.293C>G c.3501C>G (p.Ser1167=) n.3780C>G | |
| 11 | g.9832234G>T | CA473070448 | SBF2 | c.2346C>A (p.Ser782=) c.3642C>A (p.Ser1214=) c.3528C>A (p.Ser1176=) c.3249C>A (p.Ser1083=) c.3504C>A (p.Ser1168=) n.813C>A c.2536C>A (n.2536C>A) c.3636C>A (p.Ser1212=) c.2441C>A (n.2441C>A) c.3513C>A (p.Ser1171=) c.2471C>A (n.2471C>A) c.293C>A c.3501C>A (p.Ser1167=) n.3780C>A | |
| 11 | g.9832235G>A | CA379645474 | SBF2 | c.2345C>T (p.Ser782Phe) c.3641C>T (p.Ser1214Phe) c.3527C>T (p.Ser1176Phe) c.3248C>T (p.Ser1083Phe) c.3503C>T (p.Ser1168Phe) n.812C>T c.2535C>T (n.2535C>T) c.3635C>T (p.Ser1212Phe) c.2440C>T (n.2440C>T) c.3512C>T (p.Ser1171Phe) c.2470C>T (n.2470C>T) c.292C>T c.3500C>T (p.Ser1167Phe) n.3779C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.9832235G>C | CA379645473 | SBF2 | c.2345C>G (p.Ser782Cys) c.3641C>G (p.Ser1214Cys) c.3527C>G (p.Ser1176Cys) c.3248C>G (p.Ser1083Cys) c.3503C>G (p.Ser1168Cys) n.812C>G c.2535C>G (n.2535C>G) c.3635C>G (p.Ser1212Cys) c.2440C>G (n.2440C>G) c.3512C>G (p.Ser1171Cys) c.2470C>G (n.2470C>G) c.292C>G c.3500C>G (p.Ser1167Cys) n.3779C>G | |
| 11 | g.9832235G= | CA1951790149 | SBF2 | c.2345C= (p.Ser782=) c.3641C= (p.Ser1214=) c.3527C= (p.Ser1176=) c.3248C= (p.Ser1083=) c.3503C= (p.Ser1168=) n.812C= c.2535C= (n.2535C=) c.3635C= (p.Ser1212=) c.2440C= (n.2440C=) c.3512C= (p.Ser1171=) c.2470C= (n.2470C=) c.292C= c.3500C= (p.Ser1167=) n.3779C= | |
| 11 | g.9832235G>T | CA217634059 | SBF2 | c.2345C>A (p.Ser782Tyr) c.3641C>A (p.Ser1214Tyr) c.3527C>A (p.Ser1176Tyr) c.3248C>A (p.Ser1083Tyr) c.3503C>A (p.Ser1168Tyr) n.812C>A c.2535C>A (n.2535C>A) c.3635C>A (p.Ser1212Tyr) c.2440C>A (n.2440C>A) c.3512C>A (p.Ser1171Tyr) c.2470C>A (n.2470C>A) c.292C>A c.3500C>A (p.Ser1167Tyr) n.3779C>A | dbSNP gnomAD v4 |
| 11 | g.9832236A>C | CA379645475 | SBF2 | c.2344T>G (p.Ser782Ala) c.3640T>G (p.Ser1214Ala) c.3526T>G (p.Ser1176Ala) c.3247T>G (p.Ser1083Ala) c.3502T>G (p.Ser1168Ala) n.811T>G c.2534T>G (n.2534T>G) c.3634T>G (p.Ser1212Ala) c.2439T>G (n.2439T>G) c.3511T>G (p.Ser1171Ala) c.2469T>G (n.2469T>G) c.291T>G c.3499T>G (p.Ser1167Ala) n.3778T>G | |
| 11 | g.9832236A>G | CA379645477 | SBF2 | c.2344T>C (p.Ser782Pro) c.3640T>C (p.Ser1214Pro) c.3526T>C (p.Ser1176Pro) c.3247T>C (p.Ser1083Pro) c.3502T>C (p.Ser1168Pro) n.811T>C c.2534T>C (n.2534T>C) c.3634T>C (p.Ser1212Pro) c.2439T>C (n.2439T>C) c.3511T>C (p.Ser1171Pro) c.2469T>C (n.2469T>C) c.291T>C c.3499T>C (p.Ser1167Pro) n.3778T>C | |
| 11 | g.9832236A>T | CA379645476 | SBF2 | c.2344T>A (p.Ser782Thr) c.3640T>A (p.Ser1214Thr) c.3526T>A (p.Ser1176Thr) c.3247T>A (p.Ser1083Thr) c.3502T>A (p.Ser1168Thr) n.811T>A c.2534T>A (n.2534T>A) c.3634T>A (p.Ser1212Thr) c.2439T>A (n.2439T>A) c.3511T>A (p.Ser1171Thr) c.2469T>A (n.2469T>A) c.291T>A c.3499T>A (p.Ser1167Thr) n.3778T>A | gnomAD v4 |
| 11 | g.9832237G>A | CA5881217 | SBF2 | c.2343C>T (p.Asn781=) c.3639C>T (p.Asn1213=) c.3525C>T (p.Asn1175=) c.3246C>T (p.Asn1082=) c.3501C>T (p.Asn1167=) n.810C>T c.2533C>T (n.2533C>T) c.3633C>T (p.Asn1211=) c.2438C>T (n.2438C>T) c.3510C>T (p.Asn1170=) c.2468C>T (n.2468C>T) c.290C>T c.3498C>T (p.Asn1166=) n.3777C>T | dbSNP ExAC gnomAD v4 |
| 11 | g.9832237G>C | CA379645479 | SBF2 | c.2343C>G (p.Asn781Lys) c.3639C>G (p.Asn1213Lys) c.3525C>G (p.Asn1175Lys) c.3246C>G (p.Asn1082Lys) c.3501C>G (p.Asn1167Lys) n.810C>G c.2533C>G (n.2533C>G) c.3633C>G (p.Asn1211Lys) c.2438C>G (n.2438C>G) c.3510C>G (p.Asn1170Lys) c.2468C>G (n.2468C>G) c.290C>G c.3498C>G (p.Asn1166Lys) n.3777C>G | |
| 11 | g.9832237G= | CA1951790153 | SBF2 | c.2343C= (p.Asn781=) c.3639C= (p.Asn1213=) c.3525C= (p.Asn1175=) c.3246C= (p.Asn1082=) c.3501C= (p.Asn1167=) n.810C= c.2533C= (n.2533C=) c.3633C= (p.Asn1211=) c.2438C= (n.2438C=) c.3510C= (p.Asn1170=) c.2468C= (n.2468C=) c.290C= c.3498C= (p.Asn1166=) n.3777C= | |
| 11 | g.9832237G>T | CA379645478 | SBF2 | c.2343C>A (p.Asn781Lys) c.3639C>A (p.Asn1213Lys) c.3525C>A (p.Asn1175Lys) c.3246C>A (p.Asn1082Lys) c.3501C>A (p.Asn1167Lys) n.810C>A c.2533C>A (n.2533C>A) c.3633C>A (p.Asn1211Lys) c.2438C>A (n.2438C>A) c.3510C>A (p.Asn1170Lys) c.2468C>A (n.2468C>A) c.290C>A c.3498C>A (p.Asn1166Lys) n.3777C>A | gnomAD v4 |
| 11 | g.9832238T>A | CA379645480 | SBF2 | c.2342A>T (p.Asn781Ile) c.3638A>T (p.Asn1213Ile) c.3524A>T (p.Asn1175Ile) c.3245A>T (p.Asn1082Ile) c.3500A>T (p.Asn1167Ile) n.809A>T c.2532A>T (n.2532A>T) c.3632A>T (p.Asn1211Ile) c.2437A>T (n.2437A>T) c.3509A>T (p.Asn1170Ile) c.2467A>T (n.2467A>T) c.289A>T c.3497A>T (p.Asn1166Ile) n.3776A>T | |
| 11 | g.9832238T>C | CA379645481 | SBF2 | c.2342A>G (p.Asn781Ser) c.3638A>G (p.Asn1213Ser) c.3524A>G (p.Asn1175Ser) c.3245A>G (p.Asn1082Ser) c.3500A>G (p.Asn1167Ser) n.809A>G c.2532A>G (n.2532A>G) c.3632A>G (p.Asn1211Ser) c.2437A>G (n.2437A>G) c.3509A>G (p.Asn1170Ser) c.2467A>G (n.2467A>G) c.289A>G c.3497A>G (p.Asn1166Ser) n.3776A>G | |
| 11 | g.9832238T>G | CA379645482 | SBF2 | c.2342A>C (p.Asn781Thr) c.3638A>C (p.Asn1213Thr) c.3524A>C (p.Asn1175Thr) c.3245A>C (p.Asn1082Thr) c.3500A>C (p.Asn1167Thr) n.809A>C c.2532A>C (n.2532A>C) c.3632A>C (p.Asn1211Thr) c.2437A>C (n.2437A>C) c.3509A>C (p.Asn1170Thr) c.2467A>C (n.2467A>C) c.289A>C c.3497A>C (p.Asn1166Thr) n.3776A>C | |
| 11 | g.9832239T>A | CA379645483 | SBF2 | c.2341A>T (p.Asn781Tyr) c.3637A>T (p.Asn1213Tyr) c.3523A>T (p.Asn1175Tyr) c.3244A>T (p.Asn1082Tyr) c.3499A>T (p.Asn1167Tyr) n.808A>T c.2531A>T (n.2531A>T) c.3631A>T (p.Asn1211Tyr) c.2436A>T (n.2436A>T) c.3508A>T (p.Asn1170Tyr) c.2466A>T (n.2466A>T) c.288A>T c.3496A>T (p.Asn1166Tyr) n.3775A>T | |
| 11 | g.9832239T>C | CA379645484 | SBF2 | c.2341A>G (p.Asn781Asp) c.3637A>G (p.Asn1213Asp) c.3523A>G (p.Asn1175Asp) c.3244A>G (p.Asn1082Asp) c.3499A>G (p.Asn1167Asp) n.808A>G c.2531A>G (n.2531A>G) c.3631A>G (p.Asn1211Asp) c.2436A>G (n.2436A>G) c.3508A>G (p.Asn1170Asp) c.2466A>G (n.2466A>G) c.288A>G c.3496A>G (p.Asn1166Asp) n.3775A>G | |
| 11 | g.9832239T>G | CA379645485 | SBF2 | c.2341A>C (p.Asn781His) c.3637A>C (p.Asn1213His) c.3523A>C (p.Asn1175His) c.3244A>C (p.Asn1082His) c.3499A>C (p.Asn1167His) n.808A>C c.2531A>C (n.2531A>C) c.3631A>C (p.Asn1211His) c.2436A>C (n.2436A>C) c.3508A>C (p.Asn1170His) c.2466A>C (n.2466A>C) c.288A>C c.3496A>C (p.Asn1166His) n.3775A>C | |
| 11 | g.9832240C>A | CA379645487 | SBF2 | c.2340G>T (p.Gln780His) c.3636G>T (p.Gln1212His) c.3522G>T (p.Gln1174His) c.3243G>T (p.Gln1081His) c.3498G>T (p.Gln1166His) n.807G>T c.2530G>T (n.2530G>T) c.3630G>T (p.Gln1210His) c.2435G>T (n.2435G>T) c.3507G>T (p.Gln1169His) c.2465G>T (n.2465G>T) c.287G>T c.3495G>T (p.Gln1165His) n.3774G>T | |
| 11 | g.9832240C= | CA1951790156 | SBF2 | c.2340G= (p.Gln780=) c.3636G= (p.Gln1212=) c.3522G= (p.Gln1174=) c.3243G= (p.Gln1081=) c.3498G= (p.Gln1166=) n.807G= c.2530G= (n.2530G=) c.3630G= (p.Gln1210=) c.2435G= (n.2435G=) c.3507G= (p.Gln1169=) c.2465G= (n.2465G=) c.287G= c.3495G= (p.Gln1165=) n.3774G= | |
| 11 | g.9832240C>G | CA379645486 | SBF2 | c.2340G>C (p.Gln780His) c.3636G>C (p.Gln1212His) c.3522G>C (p.Gln1174His) c.3243G>C (p.Gln1081His) c.3498G>C (p.Gln1166His) n.807G>C c.2530G>C (n.2530G>C) c.3630G>C (p.Gln1210His) c.2435G>C (n.2435G>C) c.3507G>C (p.Gln1169His) c.2465G>C (n.2465G>C) c.287G>C c.3495G>C (p.Gln1165His) n.3774G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.9832240C>T | CA473070470 | SBF2 | c.2340G>A (p.Gln780=) c.3636G>A (p.Gln1212=) c.3522G>A (p.Gln1174=) c.3243G>A (p.Gln1081=) c.3498G>A (p.Gln1166=) n.807G>A c.2530G>A (n.2530G>A) c.3630G>A (p.Gln1210=) c.2435G>A (n.2435G>A) c.3507G>A (p.Gln1169=) c.2465G>A (n.2465G>A) c.287G>A c.3495G>A (p.Gln1165=) n.3774G>A | |
| 11 | g.9832241T>A | CA379645488 | SBF2 | c.2339A>T (p.Gln780Leu) c.3635A>T (p.Gln1212Leu) c.3521A>T (p.Gln1174Leu) c.3242A>T (p.Gln1081Leu) c.3497A>T (p.Gln1166Leu) n.806A>T c.2529A>T (n.2529A>T) c.3629A>T (p.Gln1210Leu) c.2434A>T (n.2434A>T) c.3506A>T (p.Gln1169Leu) c.2464A>T (n.2464A>T) c.286A>T c.3494A>T (p.Gln1165Leu) n.3773A>T | |
| 11 | g.9832241T>C | CA379645489 | SBF2 | c.2339A>G (p.Gln780Arg) c.3635A>G (p.Gln1212Arg) c.3521A>G (p.Gln1174Arg) c.3242A>G (p.Gln1081Arg) c.3497A>G (p.Gln1166Arg) n.806A>G c.2529A>G (n.2529A>G) c.3629A>G (p.Gln1210Arg) c.2434A>G (n.2434A>G) c.3506A>G (p.Gln1169Arg) c.2464A>G (n.2464A>G) c.286A>G c.3494A>G (p.Gln1165Arg) n.3773A>G | gnomAD v4 |
| 11 | g.9832241T>G | CA379645490 | SBF2 | c.2339A>C (p.Gln780Pro) c.3635A>C (p.Gln1212Pro) c.3521A>C (p.Gln1174Pro) c.3242A>C (p.Gln1081Pro) c.3497A>C (p.Gln1166Pro) n.806A>C c.2529A>C (n.2529A>C) c.3629A>C (p.Gln1210Pro) c.2434A>C (n.2434A>C) c.3506A>C (p.Gln1169Pro) c.2464A>C (n.2464A>C) c.286A>C c.3494A>C (p.Gln1165Pro) n.3773A>C | gnomAD v4 |
| 11 | g.9832242G>A | CA379645491 | SBF2 | c.2338C>T (p.Gln780Ter) c.3634C>T (p.Gln1212Ter) c.3520C>T (p.Gln1174Ter) c.3241C>T (p.Gln1081Ter) c.3496C>T (p.Gln1166Ter) n.805C>T c.2528C>T (n.2528C>T) c.3628C>T (p.Gln1210Ter) c.2433C>T (n.2433C>T) c.3505C>T (p.Gln1169Ter) c.2463C>T (n.2463C>T) c.285C>T c.3493C>T (p.Gln1165Ter) n.3772C>T | |
| 11 | g.9832242G>C | CA379645492 | SBF2 | c.2338C>G (p.Gln780Glu) c.3634C>G (p.Gln1212Glu) c.3520C>G (p.Gln1174Glu) c.3241C>G (p.Gln1081Glu) c.3496C>G (p.Gln1166Glu) n.805C>G c.2528C>G (n.2528C>G) c.3628C>G (p.Gln1210Glu) c.2433C>G (n.2433C>G) c.3505C>G (p.Gln1169Glu) c.2463C>G (n.2463C>G) c.285C>G c.3493C>G (p.Gln1165Glu) n.3772C>G | |
| 11 | g.9832242G>T | CA379645493 | SBF2 | c.2338C>A (p.Gln780Lys) c.3634C>A (p.Gln1212Lys) c.3520C>A (p.Gln1174Lys) c.3241C>A (p.Gln1081Lys) c.3496C>A (p.Gln1166Lys) n.805C>A c.2528C>A (n.2528C>A) c.3628C>A (p.Gln1210Lys) c.2433C>A (n.2433C>A) c.3505C>A (p.Gln1169Lys) c.2463C>A (n.2463C>A) c.285C>A c.3493C>A (p.Gln1165Lys) n.3772C>A | |
| 11 | g.9832243A>C | CA473070476 | SBF2 | c.2337T>G (p.Ser779=) c.3633T>G (p.Ser1211=) c.3519T>G (p.Ser1173=) c.3240T>G (p.Ser1080=) c.3495T>G (p.Ser1165=) n.804T>G c.2527T>G (n.2527T>G) c.3627T>G (p.Ser1209=) c.2432T>G (n.2432T>G) c.3504T>G (p.Ser1168=) c.2462T>G (n.2462T>G) c.284T>G c.3492T>G (p.Ser1164=) n.3771T>G | |
| 11 | g.9832243A>G | CA473070479 | SBF2 | c.2337T>C (p.Ser779=) c.3633T>C (p.Ser1211=) c.3519T>C (p.Ser1173=) c.3240T>C (p.Ser1080=) c.3495T>C (p.Ser1165=) n.804T>C c.2527T>C (n.2527T>C) c.3627T>C (p.Ser1209=) c.2432T>C (n.2432T>C) c.3504T>C (p.Ser1168=) c.2462T>C (n.2462T>C) c.284T>C c.3492T>C (p.Ser1164=) n.3771T>C | |
| 11 | g.9832243A>T | CA473070480 | SBF2 | c.2337T>A (p.Ser779=) c.3633T>A (p.Ser1211=) c.3519T>A (p.Ser1173=) c.3240T>A (p.Ser1080=) c.3495T>A (p.Ser1165=) n.804T>A c.2527T>A (n.2527T>A) c.3627T>A (p.Ser1209=) c.2432T>A (n.2432T>A) c.3504T>A (p.Ser1168=) c.2462T>A (n.2462T>A) c.284T>A c.3492T>A (p.Ser1164=) n.3771T>A | |
| 11 | g.9832244G>A | CA379645494 | SBF2 | c.2336C>T (p.Ser779Phe) c.3632C>T (p.Ser1211Phe) c.3518C>T (p.Ser1173Phe) c.3239C>T (p.Ser1080Phe) c.3494C>T (p.Ser1165Phe) n.803C>T c.2526C>T (n.2526C>T) c.3626C>T (p.Ser1209Phe) c.2431C>T (n.2431C>T) c.3503C>T (p.Ser1168Phe) c.2461C>T (n.2461C>T) c.283C>T c.3491C>T (p.Ser1164Phe) n.3770C>T | |
| 11 | g.9832244G>C | CA379645496 | SBF2 | c.2336C>G (p.Ser779Cys) c.3632C>G (p.Ser1211Cys) c.3518C>G (p.Ser1173Cys) c.3239C>G (p.Ser1080Cys) c.3494C>G (p.Ser1165Cys) n.803C>G c.2526C>G (n.2526C>G) c.3626C>G (p.Ser1209Cys) c.2431C>G (n.2431C>G) c.3503C>G (p.Ser1168Cys) c.2461C>G (n.2461C>G) c.283C>G c.3491C>G (p.Ser1164Cys) n.3770C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.9832244G= | CA1951790161 | SBF2 | c.2336C= (p.Ser779=) c.3632C= (p.Ser1211=) c.3518C= (p.Ser1173=) c.3239C= (p.Ser1080=) c.3494C= (p.Ser1165=) n.803C= c.2526C= (n.2526C=) c.3626C= (p.Ser1209=) c.2431C= (n.2431C=) c.3503C= (p.Ser1168=) c.2461C= (n.2461C=) c.283C= c.3491C= (p.Ser1164=) n.3770C= |