| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43071075_43071076insG | CA003047 | BRCA1 | c.4835_4836insC (p.Pro1613SerfsTer8) c.4838_4839insC (p.Pro1614SerfsTer8) c.4712_4713insC (p.Pro1572SerfsTer8) c.4832_4833insC (p.Pro1612SerfsTer8) c.4760_4761insC (p.Pro1588SerfsTer8) c.1526_1527insC (p.Pro510SerfsTer8) c.1388_1389insC (p.Pro464SerfsTer8) c.3950_3951insC (p.Pro1318SerfsTer8) c.4715_4716insC (p.Pro1573SerfsTer8) c.4904_4905insC (p.Pro1636SerfsTer8) c.4697_4698insC (p.Pro1567SerfsTer8) c.1400_1401insC (p.Pro468SerfsTer8) c.1445_1446insC (p.Pro483SerfsTer8) c.4901_4902insC (p.Pro1635SerfsTer8) c.1225_1226insC c.1412_1413insC (p.Pro472SerfsTer8) c.*4621_*4622insC (n.*4621_*4622insC) c.1151_1152insC (p.Pro385SerfsTer8) c.5-7125_5-7124insC (n.5-7125_5-7124insC) c.311_312insC (p.Pro105SerfsTer8) c.-98-20886_-98-20885insC (n.-98-20886_-98-20885insC) n.4974_4975insC n.5015_5016insC | ClinVar dbSNP |
| 17 | g.43071075_43071076insGG | CA2638062522 | BRCA1 | c.4835_4836insCC (p.Pro1613LeufsTer20) c.4838_4839insCC (p.Pro1614LeufsTer20) c.4712_4713insCC (p.Pro1572LeufsTer20) c.4832_4833insCC (p.Pro1612LeufsTer20) c.4760_4761insCC (p.Pro1588LeufsTer20) c.1526_1527insCC (p.Pro510LeufsTer20) c.1388_1389insCC (p.Pro464LeufsTer20) c.3950_3951insCC (p.Pro1318LeufsTer20) c.4715_4716insCC (p.Pro1573LeufsTer20) c.4904_4905insCC (p.Pro1636LeufsTer20) c.4697_4698insCC (p.Pro1567LeufsTer20) c.1400_1401insCC (p.Pro468LeufsTer20) c.1445_1446insCC (p.Pro483LeufsTer20) c.4901_4902insCC (p.Pro1635LeufsTer20) c.1225_1226insCC c.1412_1413insCC (p.Pro472LeufsTer20) c.*4621_*4622insCC (n.*4621_*4622insCC) c.1151_1152insCC (p.Pro385LeufsTer20) c.5-7125_5-7124insCC (n.5-7125_5-7124insCC) c.311_312insCC (p.Pro105LeufsTer20) c.-98-20886_-98-20885insCC (n.-98-20886_-98-20885insCC) n.4974_4975insCC n.5015_5016insCC | ClinVar dbSNP gnomAD v4 |