| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.39067256A= | CA2130612155 | SEC23A | c.1144T= (p.Phe382=) c.538T= (p.Phe180=) c.1057T= (p.Phe353=) | |
| 14 | g.39067256A>C | CA389535258 | SEC23A | c.1144T>G (p.Phe382Val) c.538T>G (p.Phe180Val) c.1057T>G (p.Phe353Val) | |
| 14 | g.39067256A>G | CA114858 | SEC23A | c.1144T>C (p.Phe382Leu) c.538T>C (p.Phe180Leu) c.1057T>C (p.Phe353Leu) | ClinVar dbSNP |
| 14 | g.39067256A>T | CA389535259 | SEC23A | c.1144T>A (p.Phe382Ile) c.538T>A (p.Phe180Ile) c.1057T>A (p.Phe353Ile) | |
| 14 | g.39067257T>A | CA389535260 | SEC23A | c.1143A>T (p.Leu381Phe) c.537A>T (p.Leu179Phe) c.1056A>T (p.Leu352Phe) | |
| 14 | g.39067257T>C | CA486103594 | SEC23A | c.1143A>G (p.Leu381=) c.537A>G (p.Leu179=) c.1056A>G (p.Leu352=) | |
| 14 | g.39067257T>G | CA389535261 | SEC23A | c.1143A>C (p.Leu381Phe) c.537A>C (p.Leu179Phe) c.1056A>C (p.Leu352Phe) | |
| 14 | g.39067258A>C | CA389535262 | SEC23A | c.1142T>G (p.Leu381Ter) c.536T>G (p.Leu179Ter) c.1055T>G (p.Leu352Ter) | |
| 14 | g.39067258A>G | CA389535263 | SEC23A | c.1142T>C (p.Leu381Ser) c.536T>C (p.Leu179Ser) c.1055T>C (p.Leu352Ser) | |
| 14 | g.39067258A>T | CA389535264 | SEC23A | c.1142T>A (p.Leu381Ter) c.536T>A (p.Leu179Ter) c.1055T>A (p.Leu352Ter) | gnomAD v4 |
| 14 | g.39067259A>C | CA389535265 | SEC23A | c.1141T>G (p.Leu381Val) c.535T>G (p.Leu179Val) c.1054T>G (p.Leu352Val) | gnomAD v4 |
| 14 | g.39067259A>G | CA486103595 | SEC23A | c.1141T>C (p.Leu381=) c.535T>C (p.Leu179=) c.1054T>C (p.Leu352=) | |
| 14 | g.39067259A>T | CA389535266 | SEC23A | c.1141T>A (p.Leu381Ile) c.535T>A (p.Leu179Ile) c.1054T>A (p.Leu352Ile) | |
| 14 | g.39067259_39067260delinsAG | CA2130612159 | SEC23A | c.1140_1141delinsCT (p.Ser380=) c.534_535delinsCT (p.Ser178=) c.1053_1054delinsCT (p.Ser351=) | |
| 14 | g.39067260G>A | CA7161934 | SEC23A | c.1140C>T (p.Ser380=) c.534C>T (p.Ser178=) c.1053C>T (p.Ser351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.39067260G>C | CA486103596 | SEC23A | c.1140C>G (p.Ser380=) c.534C>G (p.Ser178=) c.1053C>G (p.Ser351=) | |
| 14 | g.39067260G= | CA2130612163 | SEC23A | c.1140C= (p.Ser380=) c.534C= (p.Ser178=) c.1053C= (p.Ser351=) | |
| 14 | g.39067260G>T | CA486103597 | SEC23A | c.1140C>A (p.Ser380=) c.534C>A (p.Ser178=) c.1053C>A (p.Ser351=) | |
| 14 | g.39067261del | CA613543163 | SEC23A | c.1140del (p.Leu381TyrfsTer26) c.534del (p.Leu179TyrfsTer26) c.1053del (p.Leu352TyrfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.39067261G>A | CA389535267 | SEC23A | c.1139C>T (p.Ser380Phe) c.533C>T (p.Ser178Phe) c.1052C>T (p.Ser351Phe) | COSMIC COSMIC |
| 14 | g.39067261G>C | CA389535268 | SEC23A | c.1139C>G (p.Ser380Cys) c.533C>G (p.Ser178Cys) c.1052C>G (p.Ser351Cys) | |
| 14 | g.39067261G>T | CA389535269 | SEC23A | c.1139C>A (p.Ser380Tyr) c.533C>A (p.Ser178Tyr) c.1052C>A (p.Ser351Tyr) | gnomAD v4 |
| 14 | g.39067262A= | CA2130612175 | SEC23A | c.1138T= (p.Ser380=) c.532T= (p.Ser178=) c.1051T= (p.Ser351=) | |
| 14 | g.39067262A>C | CA389535270 | SEC23A | c.1138T>G (p.Ser380Ala) c.532T>G (p.Ser178Ala) c.1051T>G (p.Ser351Ala) | |
| 14 | g.39067262A>G | CA389535271 | SEC23A | c.1138T>C (p.Ser380Pro) c.532T>C (p.Ser178Pro) c.1051T>C (p.Ser351Pro) | |
| 14 | g.39067262A>T | CA7161935 | SEC23A | c.1138T>A (p.Ser380Thr) c.532T>A (p.Ser178Thr) c.1051T>A (p.Ser351Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.39067263A>C | CA486103598 | SEC23A | c.1137T>G (p.Thr379=) c.531T>G (p.Thr177=) c.1050T>G (p.Thr350=) | |
| 14 | g.39067263A>G | CA486103599 | SEC23A | c.1137T>C (p.Thr379=) c.531T>C (p.Thr177=) c.1050T>C (p.Thr350=) | |
| 14 | g.39067263A>T | CA486103600 | SEC23A | c.1137T>A (p.Thr379=) c.531T>A (p.Thr177=) c.1050T>A (p.Thr350=) | |
| 14 | g.39067264G>A | CA389535272 | SEC23A | c.1136C>T (p.Thr379Ile) c.530C>T (p.Thr177Ile) c.1049C>T (p.Thr350Ile) | gnomAD v4 |
| 14 | g.39067264G>C | CA389535273 | SEC23A | c.1136C>G (p.Thr379Ser) c.530C>G (p.Thr177Ser) c.1049C>G (p.Thr350Ser) | |
| 14 | g.39067264G= | CA2130612180 | SEC23A | c.1136C= (p.Thr379=) c.530C= (p.Thr177=) c.1049C= (p.Thr350=) | |
| 14 | g.39067264G>T | CA259543470 | SEC23A | c.1136C>A (p.Thr379Asn) c.530C>A (p.Thr177Asn) c.1049C>A (p.Thr350Asn) | dbSNP gnomAD v4 |
| 14 | g.39067265T>A | CA389535276 | SEC23A | c.1135A>T (p.Thr379Ser) c.529A>T (p.Thr177Ser) c.1048A>T (p.Thr350Ser) | |
| 14 | g.39067265T>C | CA389535274 | SEC23A | c.1135A>G (p.Thr379Ala) c.529A>G (p.Thr177Ala) c.1048A>G (p.Thr350Ala) | COSMIC |
| 14 | g.39067265T>G | CA389535275 | SEC23A | c.1135A>C (p.Thr379Pro) c.529A>C (p.Thr177Pro) c.1048A>C (p.Thr350Pro) | |
| 14 | g.39067266A>C | CA389535277 | SEC23A | c.1134T>G (p.Asn378Lys) c.528T>G (p.Asn176Lys) c.1047T>G (p.Asn349Lys) | |
| 14 | g.39067266A>G | CA486103601 | SEC23A | c.1134T>C (p.Asn378=) c.528T>C (p.Asn176=) c.1047T>C (p.Asn349=) | |
| 14 | g.39067266A>T | CA389535278 | SEC23A | c.1134T>A (p.Asn378Lys) c.528T>A (p.Asn176Lys) c.1047T>A (p.Asn349Lys) | |
| 14 | g.39067267T>A | CA389535279 | SEC23A | c.1133A>T (p.Asn378Ile) c.527A>T (p.Asn176Ile) c.1046A>T (p.Asn349Ile) | |
| 14 | g.39067267T>C | CA7161937 | SEC23A | c.1133A>G (p.Asn378Ser) c.527A>G (p.Asn176Ser) c.1046A>G (p.Asn349Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.39067267T>G | CA7161936 | SEC23A | c.1133A>C (p.Asn378Thr) c.527A>C (p.Asn176Thr) c.1046A>C (p.Asn349Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.39067267T= | CA2130612184 | SEC23A | c.1133A= (p.Asn378=) c.527A= (p.Asn176=) c.1046A= (p.Asn349=) | |
| 14 | g.39067268T>A | CA389535280 | SEC23A | c.1132A>T (p.Asn378Tyr) c.526A>T (p.Asn176Tyr) c.1045A>T (p.Asn349Tyr) | |
| 14 | g.39067268T>C | CA259543502 | SEC23A | c.1132A>G (p.Asn378Asp) c.526A>G (p.Asn176Asp) c.1045A>G (p.Asn349Asp) | dbSNP |
| 14 | g.39067268T>G | CA7161938 | SEC23A | c.1132A>C (p.Asn378His) c.526A>C (p.Asn176His) c.1045A>C (p.Asn349His) | dbSNP ExAC gnomAD v2 |
| 14 | g.39067268T= | CA2130612188 | SEC23A | c.1132A= (p.Asn378=) c.526A= (p.Asn176=) c.1045A= (p.Asn349=) | |
| 14 | g.39067269G>A | CA486103602 | SEC23A | c.1131C>T (p.Phe377=) c.525C>T (p.Phe175=) c.1044C>T (p.Phe348=) | |
| 14 | g.39067269G>C | CA389535281 | SEC23A | c.1131C>G (p.Phe377Leu) c.525C>G (p.Phe175Leu) c.1044C>G (p.Phe348Leu) | |
| 14 | g.39067269G>T | CA389535282 | SEC23A | c.1131C>A (p.Phe377Leu) c.525C>A (p.Phe175Leu) c.1044C>A (p.Phe348Leu) |