| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.47680415del | CA2586097337 | BICRA | c.1245del (p.Ala416ArgfsTer28) c.519del (p.Ala174ArgfsTer28) c.1089del (p.Ala364ArgfsTer28) c.1107del (p.Ala370ArgfsTer28) | gnomAD v4 |
| 19 | g.47680414C>A | CA406612377 | BICRA | c.1244C>A (p.Pro415His) c.518C>A (p.Pro173His) c.1088C>A (p.Pro363His) c.1106C>A (p.Pro369His) | gnomAD v4 |
| 19 | g.47680414C= | CA2339526607 | BICRA | c.1244C= (p.Pro415=) c.518C= (p.Pro173=) c.1088C= (p.Pro363=) c.1106C= (p.Pro369=) | |
| 19 | g.47680414C>G | CA406612378 | BICRA | c.1244C>G (p.Pro415Arg) c.518C>G (p.Pro173Arg) c.1088C>G (p.Pro363Arg) c.1106C>G (p.Pro369Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.47680414C>T | CA406612379 | BICRA | c.1244C>T (p.Pro415Leu) c.518C>T (p.Pro173Leu) c.1088C>T (p.Pro363Leu) c.1106C>T (p.Pro369Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.47680415C>A | CA508257673 | BICRA | c.1245C>A (p.Pro415=) c.519C>A (p.Pro173=) c.1089C>A (p.Pro363=) c.1107C>A (p.Pro369=) | dbSNP gnomAD v4 |
| 19 | g.47680415C= | CA2339526608 | BICRA | c.1245C= (p.Pro415=) c.519C= (p.Pro173=) c.1089C= (p.Pro363=) c.1107C= (p.Pro369=) | |
| 19 | g.47680415C>G | CA309233536 | BICRA | c.1245C>G (p.Pro415=) c.519C>G (p.Pro173=) c.1089C>G (p.Pro363=) c.1107C>G (p.Pro369=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.47680415C>T | CA508257672 | BICRA | c.1245C>T (p.Pro415=) c.519C>T (p.Pro173=) c.1089C>T (p.Pro363=) c.1107C>T (p.Pro369=) | dbSNP gnomAD v4 |
| 19 | g.47680416G>A | CA406612380 | BICRA | c.1246G>A (p.Ala416Thr) c.520G>A (p.Ala174Thr) c.1090G>A (p.Ala364Thr) c.1108G>A (p.Ala370Thr) | gnomAD v4 |
| 19 | g.47680416G>C | CA406612381 | BICRA | c.1246G>C (p.Ala416Pro) c.520G>C (p.Ala174Pro) c.1090G>C (p.Ala364Pro) c.1108G>C (p.Ala370Pro) | |
| 19 | g.47680416G= | CA2339526609 | BICRA | c.1246G= (p.Ala416=) c.520G= (p.Ala174=) c.1090G= (p.Ala364=) c.1108G= (p.Ala370=) | |
| 19 | g.47680416G>T | CA406612382 | BICRA | c.1246G>T (p.Ala416Ser) c.520G>T (p.Ala174Ser) c.1090G>T (p.Ala364Ser) c.1108G>T (p.Ala370Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.47680417C>A | CA406612384 | BICRA | c.1247C>A (p.Ala416Glu) c.521C>A (p.Ala174Glu) c.1091C>A (p.Ala364Glu) c.1109C>A (p.Ala370Glu) | gnomAD v4 |
| 19 | g.47680417C= | CA2339526610 | BICRA | c.1247C= (p.Ala416=) c.521C= (p.Ala174=) c.1091C= (p.Ala364=) c.1109C= (p.Ala370=) | |
| 19 | g.47680417C>G | CA406612385 | BICRA | c.1247C>G (p.Ala416Gly) c.521C>G (p.Ala174Gly) c.1091C>G (p.Ala364Gly) c.1109C>G (p.Ala370Gly) | |
| 19 | g.47680417C>T | CA406612386 | BICRA | c.1247C>T (p.Ala416Val) c.521C>T (p.Ala174Val) c.1091C>T (p.Ala364Val) c.1109C>T (p.Ala370Val) | dbSNP gnomAD v4 |
| 19 | g.47680418G>A | CA508257674 | BICRA | c.1248G>A (p.Ala416=) c.522G>A (p.Ala174=) c.1092G>A (p.Ala364=) c.1110G>A (p.Ala370=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.47680418G>C | CA508257675 | BICRA | c.1248G>C (p.Ala416=) c.522G>C (p.Ala174=) c.1092G>C (p.Ala364=) c.1110G>C (p.Ala370=) | |
| 19 | g.47680418G= | CA2339526611 | BICRA | c.1248G= (p.Ala416=) c.522G= (p.Ala174=) c.1092G= (p.Ala364=) c.1110G= (p.Ala370=) | |
| 19 | g.47680418G>T | CA508257676 | BICRA | c.1248G>T (p.Ala416=) c.522G>T (p.Ala174=) c.1092G>T (p.Ala364=) c.1110G>T (p.Ala370=) | gnomAD v4 |
| 19 | g.47680419C>A | CA9541689 | BICRA | c.1249C>A (p.Pro417Thr) c.523C>A (p.Pro175Thr) c.1093C>A (p.Pro365Thr) c.1111C>A (p.Pro371Thr) | dbSNP ExAC |
| 19 | g.47680419C= | CA2339526612 | BICRA | c.1249C= (p.Pro417=) c.523C= (p.Pro175=) c.1093C= (p.Pro365=) c.1111C= (p.Pro371=) | |
| 19 | g.47680419C>G | CA406612388 | BICRA | c.1249C>G (p.Pro417Ala) c.523C>G (p.Pro175Ala) c.1093C>G (p.Pro365Ala) c.1111C>G (p.Pro371Ala) | |
| 19 | g.47680419C>T | CA309233554 | BICRA | c.1249C>T (p.Pro417Ser) c.523C>T (p.Pro175Ser) c.1093C>T (p.Pro365Ser) c.1111C>T (p.Pro371Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.47680420C>A | CA406612390 | BICRA | c.1250C>A (p.Pro417His) c.524C>A (p.Pro175His) c.1094C>A (p.Pro365His) c.1112C>A (p.Pro371His) | |
| 19 | g.47680420C>G | CA406612392 | BICRA | c.1250C>G (p.Pro417Arg) c.524C>G (p.Pro175Arg) c.1094C>G (p.Pro365Arg) c.1112C>G (p.Pro371Arg) | gnomAD v4 |
| 19 | g.47680420C>T | CA406612394 | BICRA | c.1250C>T (p.Pro417Leu) c.524C>T (p.Pro175Leu) c.1094C>T (p.Pro365Leu) c.1112C>T (p.Pro371Leu) | |
| 19 | g.47680421T>A | CA508257677 | BICRA | c.1251T>A (p.Pro417=) c.525T>A (p.Pro175=) c.1095T>A (p.Pro365=) c.1113T>A (p.Pro371=) | dbSNP |
| 19 | g.47680421T>C | CA508257678 | BICRA | c.1251T>C (p.Pro417=) c.525T>C (p.Pro175=) c.1095T>C (p.Pro365=) c.1113T>C (p.Pro371=) | gnomAD v4 |
| 19 | g.47680421T>G | CA508257679 | BICRA | c.1251T>G (p.Pro417=) c.525T>G (p.Pro175=) c.1095T>G (p.Pro365=) c.1113T>G (p.Pro371=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.47680421T= | CA2339526613 | BICRA | c.1251T= (p.Pro417=) c.525T= (p.Pro175=) c.1095T= (p.Pro365=) c.1113T= (p.Pro371=) | |
| 19 | g.47680422G>A | CA406612395 | BICRA | c.1252G>A (p.Ala418Thr) c.526G>A (p.Ala176Thr) c.1096G>A (p.Ala366Thr) c.1114G>A (p.Ala372Thr) | gnomAD v4 |
| 19 | g.47680422G>C | CA406612396 | BICRA | c.1252G>C (p.Ala418Pro) c.526G>C (p.Ala176Pro) c.1096G>C (p.Ala366Pro) c.1114G>C (p.Ala372Pro) | |
| 19 | g.47680422G>T | CA406612397 | BICRA | c.1252G>T (p.Ala418Ser) c.526G>T (p.Ala176Ser) c.1096G>T (p.Ala366Ser) c.1114G>T (p.Ala372Ser) | gnomAD v4 |
| 19 | g.47680423C>A | CA406612402 | BICRA | c.1253C>A (p.Ala418Glu) c.527C>A (p.Ala176Glu) c.1097C>A (p.Ala366Glu) c.1115C>A (p.Ala372Glu) | gnomAD v4 |
| 19 | g.47680423C= | CA2339526614 | BICRA | c.1253C= (p.Ala418=) c.527C= (p.Ala176=) c.1097C= (p.Ala366=) c.1115C= (p.Ala372=) | |
| 19 | g.47680423C>G | CA406612399 | BICRA | c.1253C>G (p.Ala418Gly) c.527C>G (p.Ala176Gly) c.1097C>G (p.Ala366Gly) c.1115C>G (p.Ala372Gly) | gnomAD v4 |
| 19 | g.47680423C>T | CA406612400 | BICRA | c.1253C>T (p.Ala418Val) c.527C>T (p.Ala176Val) c.1097C>T (p.Ala366Val) c.1115C>T (p.Ala372Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.47680424G>A | CA508257680 | BICRA | c.1254G>A (p.Ala418=) c.528G>A (p.Ala176=) c.1098G>A (p.Ala366=) c.1116G>A (p.Ala372=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.47680424G>C | CA309233558 | BICRA | c.1254G>C (p.Ala418=) c.528G>C (p.Ala176=) c.1098G>C (p.Ala366=) c.1116G>C (p.Ala372=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.47680424G= | CA2339526615 | BICRA | c.1254G= (p.Ala418=) c.528G= (p.Ala176=) c.1098G= (p.Ala366=) c.1116G= (p.Ala372=) | |
| 19 | g.47680424G>T | CA508257681 | BICRA | c.1254G>T (p.Ala418=) c.528G>T (p.Ala176=) c.1098G>T (p.Ala366=) c.1116G>T (p.Ala372=) | gnomAD v4 |
| 19 | g.47680425C>A | CA406612403 | BICRA | c.1255C>A (p.Leu419Met) c.529C>A (p.Leu177Met) c.1099C>A (p.Leu367Met) c.1117C>A (p.Leu373Met) | |
| 19 | g.47680425C>G | CA406612404 | BICRA | c.1255C>G (p.Leu419Val) c.529C>G (p.Leu177Val) c.1099C>G (p.Leu367Val) c.1117C>G (p.Leu373Val) | |
| 19 | g.47680425C>T | CA508257682 | BICRA | c.1255C>T (p.Leu419=) c.529C>T (p.Leu177=) c.1099C>T (p.Leu367=) c.1117C>T (p.Leu373=) | |
| 19 | g.47680426T>A | CA406612407 | BICRA | c.1256T>A (p.Leu419Gln) c.530T>A (p.Leu177Gln) c.1100T>A (p.Leu367Gln) c.1118T>A (p.Leu373Gln) | |
| 19 | g.47680426T>C | CA406612410 | BICRA | c.1256T>C (p.Leu419Pro) c.530T>C (p.Leu177Pro) c.1100T>C (p.Leu367Pro) c.1118T>C (p.Leu373Pro) | |
| 19 | g.47680426T>G | CA406612412 | BICRA | c.1256T>G (p.Leu419Arg) c.530T>G (p.Leu177Arg) c.1100T>G (p.Leu367Arg) c.1118T>G (p.Leu373Arg) | |
| 19 | g.47680427G>A | CA508257683 | BICRA | c.1257G>A (p.Leu419=) c.531G>A (p.Leu177=) c.1101G>A (p.Leu367=) c.1119G>A (p.Leu373=) | gnomAD v4 |