Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339505_32339581delinsTACTTAATACTTATTAAGTATTA | CA2499222187 | BRCA2 | c.5150_5226delinsTACTTAATACTTATTAAGTATTA (p.Glu1717ValfsTer6) c.4781_4857delinsTACTTAATACTTATTAAGTATTA (p.Glu1594ValfsTer6) n.5150_5226delinsTACTTAATACTTATTAAGTATTA | ClinVar dbSNP |
13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
13 | g.32339564_32339628dup | CA915948485 | BRCA2 | c.5209_5273dup (p.Asn1758LysfsTer5) c.4840_4904dup (p.Asn1635LysfsTer5) n.5209_5273dup | ClinVar dbSNP |
13 | g.32339572_32339575del | CA021722 | BRCA2 | c.5217_5220del (p.Tyr1739Ter) c.4848_4851del (p.Tyr1616Ter) n.5217_5220del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339569_32339577delinsTTATTTAAG | CA2082820384 | BRCA2 | c.5214_5222delinsTTATTTAAG (p.Thr1738=) c.4845_4853delinsTTATTTAAG (p.Thr1615=) n.5214_5222delinsTTATTTAAG | |
13 | g.32339570_32339575delinsTATTTA | CA2082820401 | BRCA2 | c.5215_5220delinsTATTTA (p.Tyr1739=) c.4846_4851delinsTATTTA (p.Tyr1616=) n.5215_5220delinsTATTTA | |
13 | g.32339572_32339579del | CA021739 | BRCA2 | c.5217_5224del (p.Tyr1739Ter) c.4848_4855del (p.Tyr1616Ter) n.5217_5224del | ClinVar dbSNP |
13 | g.32339570_32339587delinsTATTTAAGTAACAGTAGC | CA2082820413 | BRCA2 | c.5215_5232delinsTATTTAAGTAACAGTAGC (p.Tyr1739=) c.4846_4863delinsTATTTAAGTAACAGTAGC (p.Tyr1616=) n.5215_5232delinsTATTTAAGTAACAGTAGC | |
13 | g.32339572_32339576del | CA021726 | BRCA2 | c.5217_5221del (p.Tyr1739Ter) c.4848_4852del (p.Tyr1616Ter) n.5217_5221del | ClinVar dbSNP |
13 | g.32339571_32339577delinsATTTAAG | CA2082820454 | BRCA2 | c.5216_5222delinsATTTAAG (p.Tyr1739=) c.4847_4853delinsATTTAAG (p.Tyr1616=) n.5216_5222delinsATTTAAG | |
13 | g.32339571_32339578delinsATTTAAGT | CA2082820458 | BRCA2 | c.5216_5223delinsATTTAAGT (p.Tyr1739=) c.4847_4854delinsATTTAAGT (p.Tyr1616=) n.5216_5223delinsATTTAAGT | |
13 | g.32339573_32339589del | CA10589301 | BRCA2 | c.5218_5234del (p.Leu1740ValfsTer2) c.4849_4865del (p.Leu1617ValfsTer2) n.5218_5234del | ClinVar dbSNP |
13 | g.32339572_32339574del | CA2580087356 | BRCA2 | c.5217_5219del (p.Tyr1739Ter) c.4848_4850del (p.Tyr1616Ter) n.5217_5219del | ClinVar |
13 | g.32339574dup | CA10589303 | BRCA2 | c.5219dup (p.Leu1740PhefsTer3) c.4850dup (p.Leu1617PhefsTer3) n.5219dup | ClinVar dbSNP |
13 | g.32339574del | CA10589302 | BRCA2 | c.5219del (p.Leu1740Ter) c.4850del (p.Leu1617Ter) n.5219del | ClinVar dbSNP |
13 | g.32339572_32339578del | CA021736 | BRCA2 | c.5217_5223del (p.Tyr1739Ter) c.4848_4854del (p.Tyr1616Ter) n.5217_5223del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339573_32339578del | CA021754 | BRCA2 | c.5218_5223del (p.Leu1740_Ser1741del) c.4849_4854del (p.Leu1617_Ser1618del) n.5218_5223del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339572_32339579delinsTTTAAGTA | CA2082820510 | BRCA2 | c.5217_5224delinsTTTAAGTA (p.Tyr1739=) c.4848_4855delinsTTTAAGTA (p.Tyr1616=) n.5217_5224delinsTTTAAGTA | |
13 | g.32339573_32339577delinsTTAAG | CA2082820538 | BRCA2 | c.5218_5222delinsTTAAG (p.Leu1740=) c.4849_4853delinsTTAAG (p.Leu1617=) n.5218_5222delinsTTAAG | |
13 | g.32339573_32339579del | CA10589300 | BRCA2 | c.5218_5224del (p.Leu1740ThrfsTer?) c.4849_4855del (p.Leu1617ThrfsTer?) n.5218_5224del | ClinVar dbSNP |
13 | g.32339574T>A | CA387784632 | BRCA2 | c.5219T>A (p.Leu1740Ter) c.4850T>A (p.Leu1617Ter) n.5219T>A | |
13 | g.32339574T>C | CA387784633 | BRCA2 | c.5219T>C (p.Leu1740Ser) c.4850T>C (p.Leu1617Ser) n.5219T>C | |
13 | g.32339574T>G | CA387784634 | BRCA2 | c.5219T>G (p.Leu1740Ter) c.4850T>G (p.Leu1617Ter) n.5219T>G | ClinVar dbSNP |
13 | g.32339574T= | CA2082820567 | BRCA2 | c.5219T= (p.Leu1740=) c.4850T= (p.Leu1617=) n.5219T= | |
13 | g.32339574_32339575dup | CA658823641 | BRCA2 | c.5219_5220dup (p.Ser1741Ter) c.4850_4851dup (p.Ser1618Ter) n.5219_5220dup | ClinVar dbSNP |
13 | g.32339577_32339580del | CA021774 | BRCA2 | c.5222_5225del (p.Ser1741ThrfsTer?) c.4853_4856del (p.Ser1618ThrfsTer?) n.5222_5225del | ClinVar dbSNP gnomAD v4 |
13 | g.32339574_32339575insTA | CA645372967 | BRCA2 | c.5219_5220insTA (p.Leu1740PhefsTer?) c.4850_4851insTA (p.Leu1617PhefsTer?) n.5219_5220insTA | ClinVar dbSNP |
13 | g.32339575A= | CA2082820584 | BRCA2 | c.5220A= (p.Leu1740=) c.4851A= (p.Leu1617=) n.5220A= | |
13 | g.32339575A>C | CA021766 | BRCA2 | c.5220A>C (p.Leu1740Phe) c.4851A>C (p.Leu1617Phe) n.5220A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339575A>G | CA483438415 | BRCA2 | c.5220A>G (p.Leu1740=) c.4851A>G (p.Leu1617=) n.5220A>G | dbSNP |
13 | g.32339575A>T | CA387784635 | BRCA2 | c.5220A>T (p.Leu1740Phe) c.4851A>T (p.Leu1617Phe) n.5220A>T | dbSNP |
13 | g.32339575_32339578delinsAAGT | CA2082820612 | BRCA2 | c.5220_5223delinsAAGT (p.Leu1740=) c.4851_4854delinsAAGT (p.Leu1617=) n.5220_5223delinsAAGT | |
13 | g.32339575_32339580delinsAAGTAA | CA2082820592 | BRCA2 | c.5220_5225delinsAAGTAA (p.Leu1740=) c.4851_4856delinsAAGTAA (p.Leu1617=) n.5220_5225delinsAAGTAA | |
13 | g.32339575_32339581delinsAAGTAAC | CA2082820578 | BRCA2 | c.5220_5226delinsAAGTAAC (p.Leu1740=) c.4851_4857delinsAAGTAAC (p.Leu1617=) n.5220_5226delinsAAGTAAC | |
13 | g.32339576A= | CA2082820627 | BRCA2 | c.5221A= (p.Ser1741=) c.4852A= (p.Ser1618=) n.5221A= | |
13 | g.32339576A>C | CA387784638 | BRCA2 | c.5221A>C (p.Ser1741Arg) c.4852A>C (p.Ser1618Arg) n.5221A>C | |
13 | g.32339576A>G | CA387784637 | BRCA2 | c.5221A>G (p.Ser1741Gly) c.4852A>G (p.Ser1618Gly) n.5221A>G | ClinVar dbSNP |
13 | g.32339576A>T | CA387784636 | BRCA2 | c.5221A>T (p.Ser1741Cys) c.4852A>T (p.Ser1618Cys) n.5221A>T | dbSNP |
13 | g.32339577_32339579del | CA2082820625 | BRCA2 | c.5222_5224del (p.Ser1741del) c.4853_4855del (p.Ser1618del) n.5222_5224del | ClinVar dbSNP |
13 | g.32339576_32339580delinsC | CA021771 | BRCA2 | c.5221_5225delinsC (p.Ser1741ProfsTer?) c.4852_4856delinsC (p.Ser1618ProfsTer?) n.5221_5225delinsC | ClinVar dbSNP |
13 | g.32339580_32339585del | CA021779 | BRCA2 | c.5225_5230del (p.Asn1742_Ser1743del) c.4856_4861del (p.Asn1619_Ser1620del) n.5225_5230del | ClinVar dbSNP gnomAD v4 |
13 | g.32339577del | CA2573149330 | BRCA2 | c.5222del (p.Ser1741IlefsTer?) c.4853del (p.Ser1618IlefsTer?) n.5222del | ClinVar dbSNP |
13 | g.32339577G>A | CA387784639 | BRCA2 | c.5222G>A (p.Ser1741Asn) c.4853G>A (p.Ser1618Asn) n.5222G>A | dbSNP |
13 | g.32339577G>C | CA387784640 | BRCA2 | c.5222G>C (p.Ser1741Thr) c.4853G>C (p.Ser1618Thr) n.5222G>C | ClinVar dbSNP |
13 | g.32339577G= | CA2082820636 | BRCA2 | c.5222G= (p.Ser1741=) c.4853G= (p.Ser1618=) n.5222G= | |
13 | g.32339577G>T | CA387784641 | BRCA2 | c.5222G>T (p.Ser1741Ile) c.4853G>T (p.Ser1618Ile) n.5222G>T | ClinVar |
13 | g.32339578T>A | CA387784642 | BRCA2 | c.5223T>A (p.Ser1741Arg) c.4854T>A (p.Ser1618Arg) n.5223T>A | |
13 | g.32339578T>C | CA483438419 | BRCA2 | c.5223T>C (p.Ser1741=) c.4854T>C (p.Ser1618=) n.5223T>C | ClinVar dbSNP |
13 | g.32339578T>G | CA387784643 | BRCA2 | c.5223T>G (p.Ser1741Arg) c.4854T>G (p.Ser1618Arg) n.5223T>G | |
13 | g.32339578T= | CA2082820651 | BRCA2 | c.5223T= (p.Ser1741=) c.4854T= (p.Ser1618=) n.5223T= |