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.32339568_32339571del | CA021707 | BRCA2 | c.5213_5216del (p.Thr1738IlefsTer2) c.4844_4847del (p.Thr1615IlefsTer2) n.5213_5216del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339568_32339572delinsCTTAT | CA2082820360 | BRCA2 | c.5213_5217delinsCTTAT (p.Thr1738=) c.4844_4848delinsCTTAT (p.Thr1615=) n.5213_5217delinsCTTAT | |
13 | g.32339570del | CA021718 | BRCA2 | c.5215del (p.Tyr1739IlefsTer2) c.4846del (p.Tyr1616IlefsTer2) n.5215del | 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.32339570T>A | CA387784623 | BRCA2 | c.5215T>A (p.Tyr1739Asn) c.4846T>A (p.Tyr1616Asn) n.5215T>A | dbSNP |
13 | g.32339570T>C | CA387784625 | BRCA2 | c.5215T>C (p.Tyr1739His) c.4846T>C (p.Tyr1616His) n.5215T>C | |
13 | g.32339570T>G | CA387784624 | BRCA2 | c.5215T>G (p.Tyr1739Asp) c.4846T>G (p.Tyr1616Asp) n.5215T>G | |
13 | g.32339570T= | CA2082820406 | BRCA2 | c.5215T= (p.Tyr1739=) c.4846T= (p.Tyr1616=) n.5215T= | |
13 | g.32339571_32339572insAATA | CA658823640 | BRCA2 | c.5216_5217insAATA (p.Tyr1739Ter) c.4847_4848insAATA (p.Tyr1616Ter) n.5216_5217insAATA | ClinVar dbSNP |
13 | g.32339571_32339572del | CA2622600179 | BRCA2 | c.5216_5217del (p.Tyr1739PhefsTer3) c.4847_4848del (p.Tyr1616PhefsTer3) n.5216_5217del | gnomAD v4 |
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.32339571A= | CA2082820431 | BRCA2 | c.5216A= (p.Tyr1739=) c.4847A= (p.Tyr1616=) n.5216A= | |
13 | g.32339571A>C | CA387784626 | BRCA2 | c.5216A>C (p.Tyr1739Ser) c.4847A>C (p.Tyr1616Ser) n.5216A>C | ClinVar |
13 | g.32339571A>G | CA387784627 | BRCA2 | c.5216A>G (p.Tyr1739Cys) c.4847A>G (p.Tyr1616Cys) n.5216A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339571A>T | CA387784628 | BRCA2 | c.5216A>T (p.Tyr1739Phe) c.4847A>T (p.Tyr1616Phe) n.5216A>T | |
13 | g.32339571_32339572insAA | CA2697551797 | BRCA2 | c.5216_5217insAA (p.Tyr1739Ter) c.4847_4848insAA (p.Tyr1616Ter) n.5216_5217insAA | ClinVar |
13 | g.32339571_32339572insAAA | CA915948486 | BRCA2 | c.5216_5217insAAA (p.Tyr1739Ter) c.4847_4848insAAA (p.Tyr1616Ter) n.5216_5217insAAA | ClinVar dbSNP |
13 | g.32339571dup | CA10589298 | BRCA2 | c.5216dup (p.Tyr1739Ter) c.4847dup (p.Tyr1616Ter) n.5216dup | ClinVar dbSNP |
13 | g.32339571_32339572delinsAT | CA2082820442 | BRCA2 | c.5216_5217delinsAT (p.Tyr1739=) c.4847_4848delinsAT (p.Tyr1616=) n.5216_5217delinsAT | |
13 | g.32339571_32339573delinsATT | CA2082820448 | BRCA2 | c.5216_5218delinsATT (p.Tyr1739=) c.4847_4849delinsATT (p.Tyr1616=) n.5216_5218delinsATT | |
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.32339572T>A | CA021745 | BRCA2 | c.5217T>A (p.Tyr1739Ter) c.4848T>A (p.Tyr1616Ter) n.5217T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32339572T>C | CA021752 | BRCA2 | c.5217T>C (p.Tyr1739=) c.4848T>C (p.Tyr1616=) n.5217T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339572T>G | CA387784629 | BRCA2 | c.5217T>G (p.Tyr1739Ter) c.4848T>G (p.Tyr1616Ter) n.5217T>G | ClinVar dbSNP |
13 | g.32339572T= | CA2082820492 | BRCA2 | c.5217T= (p.Tyr1739=) c.4848T= (p.Tyr1616=) n.5217T= | |
13 | g.32339572_32339573delinsA | CA10589299 | BRCA2 | c.5217_5218delinsA (p.Tyr1739Ter) c.4848_4849delinsA (p.Tyr1616Ter) n.5217_5218delinsA | ClinVar dbSNP |
13 | g.32339572_32339573delinsC | CA2573053812 | BRCA2 | c.5217_5218delinsC (p.Leu1740Ter) c.4848_4849delinsC (p.Leu1617Ter) n.5217_5218delinsC | 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.32339572_32339573insA | CA2499222190 | BRCA2 | c.5217_5218insA (p.Leu1740IlefsTer3) c.4848_4849insA (p.Leu1617IlefsTer3) n.5217_5218insA | |
13 | g.32339573T>A | CA387784630 | BRCA2 | c.5218T>A (p.Leu1740Ile) c.4849T>A (p.Leu1617Ile) n.5218T>A | dbSNP |
13 | g.32339573T>C | CA483438409 | BRCA2 | c.5218T>C (p.Leu1740=) c.4849T>C (p.Leu1617=) n.5218T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339573T>G | CA387784631 | BRCA2 | c.5218T>G (p.Leu1740Val) c.4849T>G (p.Leu1617Val) n.5218T>G | |
13 | g.32339573T= | CA2082820552 | BRCA2 | c.5218T= (p.Leu1740=) c.4849T= (p.Leu1617=) n.5218T= | |
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= | |
13 | g.32339578dup | CA658656385 | BRCA2 | c.5223dup (p.Asn1742Ter) c.4854dup (p.Asn1619Ter) n.5223dup | ClinVar dbSNP |
13 | g.32339579A= | CA2082820657 | BRCA2 | c.5224A= (p.Asn1742=) c.4855A= (p.Asn1619=) n.5224A= | |
13 | g.32339579A>C | CA387784644 | BRCA2 | c.5224A>C (p.Asn1742His) c.4855A>C (p.Asn1619His) n.5224A>C | |
13 | g.32339579A>G | CA387784645 | BRCA2 | c.5224A>G (p.Asn1742Asp) c.4855A>G (p.Asn1619Asp) n.5224A>G | dbSNP |
13 | g.32339579A>T | CA387784646 | BRCA2 | c.5224A>T (p.Asn1742Tyr) c.4855A>T (p.Asn1619Tyr) n.5224A>T | dbSNP |
13 | g.32339580del | CA2499222191 | BRCA2 | c.5225del (p.Asn1742ThrfsTer?) c.4856del (p.Asn1619ThrfsTer?) n.5225del | ClinVar dbSNP |
13 | g.32339580A= | CA2082820672 | BRCA2 | c.5225A= (p.Asn1742=) c.4856A= (p.Asn1619=) n.5225A= | |
13 | g.32339580A>C | CA387784647 | BRCA2 | c.5225A>C (p.Asn1742Thr) c.4856A>C (p.Asn1619Thr) n.5225A>C | dbSNP |
13 | g.32339580A>G | CA387784648 | BRCA2 | c.5225A>G (p.Asn1742Ser) c.4856A>G (p.Asn1619Ser) n.5225A>G | |
13 | g.32339580A>T | CA6940856 | BRCA2 | c.5225A>T (p.Asn1742Ile) c.4856A>T (p.Asn1619Ile) n.5225A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339580_32339581delinsAC | CA2082820678 | BRCA2 | c.5225_5226delinsAC (p.Asn1742=) c.4856_4857delinsAC (p.Asn1619=) n.5225_5226delinsAC | |
13 | g.32339581del | CA658823642 | BRCA2 | c.5226del (p.Asn1742LysfsTer?) c.4857del (p.Asn1619LysfsTer?) n.5226del | ClinVar dbSNP gnomAD v4 |
13 | g.32339581C>A | CA387784649 | BRCA2 | c.5226C>A (p.Asn1742Lys) c.4857C>A (p.Asn1619Lys) n.5226C>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339581C= | CA2082820702 | BRCA2 | c.5226C= (p.Asn1742=) c.4857C= (p.Asn1619=) n.5226C= | |
13 | g.32339581C>G | CA387784650 | BRCA2 | c.5226C>G (p.Asn1742Lys) c.4857C>G (p.Asn1619Lys) n.5226C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339581C>T | CA16607466 | BRCA2 | c.5226C>T (p.Asn1742=) c.4857C>T (p.Asn1619=) n.5226C>T | ClinVar dbSNP |
13 | g.32339581_32339584delinsCAGT | CA2082820718 | BRCA2 | c.5226_5229delinsCAGT (p.Asn1742=) c.4857_4860delinsCAGT (p.Asn1619=) n.5226_5229delinsCAGT | |
13 | g.32339583_32339588del | CA658761174 | BRCA2 | c.5228_5233del (p.Ser1743_Ser1744del) c.4859_4864del (p.Ser1620_Ser1621del) n.5228_5233del | |
13 | g.32339582A= | CA2082820735 | BRCA2 | c.5227A= (p.Ser1743=) c.4858A= (p.Ser1620=) n.5227A= | |
13 | g.32339582A>C | CA387784651 | BRCA2 | c.5227A>C (p.Ser1743Arg) c.4858A>C (p.Ser1620Arg) n.5227A>C | COSMIC COSMIC |
13 | g.32339582A>G | CA387784652 | BRCA2 | c.5227A>G (p.Ser1743Gly) c.4858A>G (p.Ser1620Gly) n.5227A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339582A>T | CA021787 | BRCA2 | c.5227A>T (p.Ser1743Cys) c.4858A>T (p.Ser1620Cys) n.5227A>T | ClinVar dbSNP |
13 | g.32339582dup | CA2697551798 | BRCA2 | c.5227dup (p.Ser1743LysfsTer2) c.4858dup (p.Ser1620LysfsTer2) n.5227dup | ClinVar |
13 | g.32339584_32339586del | CA021798 | BRCA2 | c.5229_5231del (p.Ser1744del) c.4860_4862del (p.Ser1621del) n.5229_5231del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339583G>A | CA021793 | BRCA2 | c.5228G>A (p.Ser1743Asn) c.4859G>A (p.Ser1620Asn) n.5228G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339583G>C | CA387784653 | BRCA2 | c.5228G>C (p.Ser1743Thr) c.4859G>C (p.Ser1620Thr) n.5228G>C | dbSNP |
13 | g.32339583G= | CA2082820746 | BRCA2 | c.5228G= (p.Ser1743=) c.4859G= (p.Ser1620=) n.5228G= | |
13 | g.32339583G>T | CA387784654 | BRCA2 | c.5228G>T (p.Ser1743Ile) c.4859G>T (p.Ser1620Ile) n.5228G>T | |
13 | g.32339583_32339588delinsGTAGCA | CA2082820756 | BRCA2 | c.5228_5233delinsGTAGCA (p.Ser1743=) c.4859_4864delinsGTAGCA (p.Ser1620=) n.5228_5233delinsGTAGCA | |
13 | g.32339584T>A | CA387784655 | BRCA2 | c.5229T>A (p.Ser1743Arg) c.4860T>A (p.Ser1620Arg) n.5229T>A | dbSNP |
13 | g.32339584T>C | CA483438431 | BRCA2 | c.5229T>C (p.Ser1743=) c.4860T>C (p.Ser1620=) n.5229T>C | ClinVar dbSNP |
13 | g.32339584T>G | CA387784656 | BRCA2 | c.5229T>G (p.Ser1743Arg) c.4860T>G (p.Ser1620Arg) n.5229T>G | dbSNP |
13 | g.32339584T= | CA2082820769 | BRCA2 | c.5229T= (p.Ser1743=) c.4860T= (p.Ser1620=) n.5229T= | |
13 | g.32339585_32339589del | CA1139663218 | BRCA2 | c.5230_5234del (p.Ser1744ValfsTer2) c.4861_4865del (p.Ser1621ValfsTer2) n.5230_5234del | ClinVar dbSNP |
13 | g.32339585A= | CA2082820778 | BRCA2 | c.5230A= (p.Ser1744=) c.4861A= (p.Ser1621=) n.5230A= | |
13 | g.32339585A>C | CA387784657 | BRCA2 | c.5230A>C (p.Ser1744Arg) c.4861A>C (p.Ser1621Arg) n.5230A>C | |
13 | g.32339585A>G | CA021808 | BRCA2 | c.5230A>G (p.Ser1744Gly) c.4861A>G (p.Ser1621Gly) n.5230A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339585A>T | CA387784658 | BRCA2 | c.5230A>T (p.Ser1744Cys) c.4861A>T (p.Ser1621Cys) n.5230A>T | dbSNP |
13 | g.32339586G>A | CA387784659 | BRCA2 | c.5231G>A (p.Ser1744Asn) c.4862G>A (p.Ser1621Asn) n.5231G>A | dbSNP gnomAD v4 |
13 | g.32339586G>C | CA387784660 | BRCA2 | c.5231G>C (p.Ser1744Thr) c.4862G>C (p.Ser1621Thr) n.5231G>C | dbSNP |
13 | g.32339586G= | CA2082820784 | BRCA2 | c.5231G= (p.Ser1744=) c.4862G= (p.Ser1621=) n.5231G= | |
13 | g.32339586G>T | CA021814 | BRCA2 | c.5231G>T (p.Ser1744Ile) c.4862G>T (p.Ser1621Ile) n.5231G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339587C>A | CA387784661 | BRCA2 | c.5232C>A (p.Ser1744Arg) c.4863C>A (p.Ser1621Arg) n.5232C>A | dbSNP |
13 | g.32339587C= | CA2082820793 | BRCA2 | c.5232C= (p.Ser1744=) c.4863C= (p.Ser1621=) n.5232C= | |
13 | g.32339587C>G | CA387784662 | BRCA2 | c.5232C>G (p.Ser1744Arg) c.4863C>G (p.Ser1621Arg) n.5232C>G | dbSNP |
13 | g.32339587C>T | CA501113 | BRCA2 | c.5232C>T (p.Ser1744=) c.4863C>T (p.Ser1621=) n.5232C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32339588del | CA2499222192 | BRCA2 | c.5233del (p.Met1745CysfsTer?) c.4864del (p.Met1622CysfsTer?) n.5233del | |
13 | g.32339588A= | CA2082820800 | BRCA2 | c.5233A= (p.Met1745=) c.4864A= (p.Met1622=) n.5233A= | |
13 | g.32339588A>C | CA387784663 | BRCA2 | c.5233A>C (p.Met1745Leu) c.4864A>C (p.Met1622Leu) n.5233A>C | |
13 | g.32339588A>G | CA021819 | BRCA2 | c.5233A>G (p.Met1745Val) c.4864A>G (p.Met1622Val) n.5233A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339588A>T | CA387784664 | BRCA2 | c.5233A>T (p.Met1745Leu) c.4864A>T (p.Met1622Leu) n.5233A>T | ClinVar dbSNP |
13 | g.32339588dup | CA913188630 | BRCA2 | c.5233dup (p.Met1745AsnfsTer3) c.4864dup (p.Met1622AsnfsTer3) n.5233dup | ClinVar |
13 | g.32339589T>A | CA387784665 | BRCA2 | c.5234T>A (p.Met1745Lys) c.4865T>A (p.Met1622Lys) n.5234T>A | dbSNP gnomAD v4 |
13 | g.32339589T>C | CA387784666 | BRCA2 | c.5234T>C (p.Met1745Thr) c.4865T>C (p.Met1622Thr) n.5234T>C | ClinVar dbSNP |
13 | g.32339589T>G | CA387784667 | BRCA2 | c.5234T>G (p.Met1745Arg) c.4865T>G (p.Met1622Arg) n.5234T>G | dbSNP |
13 | g.32339590G>A | CA387784668 | BRCA2 | c.5235G>A (p.Met1745Ile) c.4866G>A (p.Met1622Ile) n.5235G>A | ClinVar dbSNP |
13 | g.32339590G>C | CA387784669 | BRCA2 | c.5235G>C (p.Met1745Ile) c.4866G>C (p.Met1622Ile) n.5235G>C | dbSNP |
13 | g.32339590G= | CA2082820806 | BRCA2 | c.5235G= (p.Met1745=) c.4866G= (p.Met1622=) n.5235G= | |
13 | g.32339590G>T | CA387784670 | BRCA2 | c.5235G>T (p.Met1745Ile) c.4866G>T (p.Met1622Ile) n.5235G>T | dbSNP |
13 | g.32339590_32339591delinsGT | CA2082820807 | BRCA2 | c.5235_5236delinsGT (p.Met1745=) c.4866_4867delinsGT (p.Met1622=) n.5235_5236delinsGT | |
13 | g.32339591del | CA915948487 | BRCA2 | c.5236del (p.Ser1746LeufsTer?) c.4867del (p.Ser1623LeufsTer?) n.5236del | ClinVar dbSNP |
13 | g.32339591T>A | CA387784671 | BRCA2 | c.5236T>A (p.Ser1746Thr) c.4867T>A (p.Ser1623Thr) n.5236T>A | dbSNP |
13 | g.32339591T>C | CA387784672 | BRCA2 | c.5236T>C (p.Ser1746Pro) c.4867T>C (p.Ser1623Pro) n.5236T>C | dbSNP |
13 | g.32339591T>G | CA387784673 | BRCA2 | c.5236T>G (p.Ser1746Ala) c.4867T>G (p.Ser1623Ala) n.5236T>G | dbSNP |
13 | g.32339592_32339593dup | CA10581588 | BRCA2 | c.5237_5238dup (p.Asn1747LeufsTer?) c.4868_4869dup (p.Asn1624LeufsTer?) n.5237_5238dup | ClinVar dbSNP |
13 | g.32339592C>A | CA387784675 | BRCA2 | c.5237C>A (p.Ser1746Tyr) c.4868C>A (p.Ser1623Tyr) n.5237C>A | ClinVar dbSNP |
13 | g.32339592C= | CA2082820823 | BRCA2 | c.5237C= (p.Ser1746=) c.4868C= (p.Ser1623=) n.5237C= | |
13 | g.32339592C>G | CA387784674 | BRCA2 | c.5237C>G (p.Ser1746Cys) c.4868C>G (p.Ser1623Cys) n.5237C>G | dbSNP |
13 | g.32339592C>T | CA387784676 | BRCA2 | c.5237C>T (p.Ser1746Phe) c.4868C>T (p.Ser1623Phe) n.5237C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339592dup | CA658761175 | BRCA2 | c.5237dup (p.Asn1747Ter) c.4868dup (p.Asn1624Ter) n.5237dup | |
13 | g.32339592_32339594del | CA2838208255 | BRCA2 | c.5237_5239del (p.Ser1746_Asn1747delinsTyr) c.4868_4870del (p.Ser1623_Asn1624delinsTyr) n.5237_5239del | |
13 | g.32339593T>A | CA483438445 | BRCA2 | c.5238T>A (p.Ser1746=) c.4869T>A (p.Ser1623=) n.5238T>A | |
13 | g.32339593T>C | CA483438444 | BRCA2 | c.5238T>C (p.Ser1746=) c.4869T>C (p.Ser1623=) n.5238T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339593T>G | CA483438443 | BRCA2 | c.5238T>G (p.Ser1746=) c.4869T>G (p.Ser1623=) n.5238T>G | |
13 | g.32339593T= | CA2082820830 | BRCA2 | c.5238T= (p.Ser1746=) c.4869T= (p.Ser1623=) n.5238T= | |
13 | g.32339593dup | CA021826 | BRCA2 | c.5238dup (p.Asn1747Ter) c.4869dup (p.Asn1624Ter) n.5238dup | ClinVar dbSNP gnomAD v4 |
13 | g.32339594A= | CA2082820841 | BRCA2 | c.5239A= (p.Asn1747=) c.4870A= (p.Asn1624=) n.5239A= | |
13 | g.32339594A>C | CA387784677 | BRCA2 | c.5239A>C (p.Asn1747His) c.4870A>C (p.Asn1624His) n.5239A>C | dbSNP |
13 | g.32339594A>G | CA021837 | BRCA2 | c.5239A>G (p.Asn1747Asp) c.4870A>G (p.Asn1624Asp) n.5239A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339594A>T | CA387784678 | BRCA2 | c.5239A>T (p.Asn1747Tyr) c.4870A>T (p.Asn1624Tyr) n.5239A>T | dbSNP gnomAD v4 |
13 | g.32339595dup | CA2697551799 | BRCA2 | c.5240dup (p.Asn1747LysfsTer8) c.4871dup (p.Asn1624LysfsTer8) n.5240dup | ClinVar |
13 | g.32339594_32339595insT | CA021833 | BRCA2 | c.5239_5240insT (p.Asn1747IlefsTer8) c.4870_4871insT (p.Asn1624IlefsTer8) n.5239_5240insT | ClinVar dbSNP |
13 | g.32339594_32339595insGG | CA2838212964 | BRCA2 | c.5239_5240insGG (p.Asn1747ArgfsTer31) c.4870_4871insGG (p.Asn1624ArgfsTer31) n.5239_5240insGG | |
13 | g.32339595A= | CA2082820865 | BRCA2 | c.5240A= (p.Asn1747=) c.4871A= (p.Asn1624=) n.5240A= | |
13 | g.32339595A>C | CA387784679 | BRCA2 | c.5240A>C (p.Asn1747Thr) c.4871A>C (p.Asn1624Thr) n.5240A>C | ClinVar dbSNP |
13 | g.32339595A>G | CA387784680 | BRCA2 | c.5240A>G (p.Asn1747Ser) c.4871A>G (p.Asn1624Ser) n.5240A>G | dbSNP COSMIC COSMIC |
13 | g.32339595A>T | CA387784681 | BRCA2 | c.5240A>T (p.Asn1747Ile) c.4871A>T (p.Asn1624Ile) n.5240A>T | ClinVar dbSNP |
13 | g.32339595_32339596insTA | CA658823643 | BRCA2 | c.5240_5241insTA (p.Ser1748ThrfsTer30) c.4871_4872insTA (p.Ser1625ThrfsTer30) n.5240_5241insTA | ClinVar dbSNP |
13 | g.32339595_32339596delinsAC | CA2082820864 | BRCA2 | c.5240_5241delinsAC (p.Asn1747=) c.4871_4872delinsAC (p.Asn1624=) n.5240_5241delinsAC | |
13 | g.32339596del | CA10586072 | BRCA2 | c.5241del (p.Asn1747LysfsTer30) c.4872del (p.Asn1624LysfsTer30) n.5241del | ClinVar dbSNP |
13 | g.32339596C>A | CA387784682 | BRCA2 | c.5241C>A (p.Asn1747Lys) c.4872C>A (p.Asn1624Lys) n.5241C>A | dbSNP |
13 | g.32339596C= | CA2082820879 | BRCA2 | c.5241C= (p.Asn1747=) c.4872C= (p.Asn1624=) n.5241C= | |
13 | g.32339596C>G | CA387784683 | BRCA2 | c.5241C>G (p.Asn1747Lys) c.4872C>G (p.Asn1624Lys) n.5241C>G | dbSNP |
13 | g.32339596C>T | CA6940858 | BRCA2 | c.5241C>T (p.Asn1747=) c.4872C>T (p.Asn1624=) n.5241C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339596_32339597insTA | CA6940857 | BRCA2 | c.5241_5242insTA (p.Ser1748Ter) c.4872_4873insTA (p.Ser1625Ter) n.5241_5242insTA | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339597del | CA2573149334 | BRCA2 | c.5242del (p.Ser1748AlafsTer29) c.4873del (p.Ser1625AlafsTer29) n.5242del | ClinVar dbSNP |
13 | g.32339597A= | CA2082820900 | BRCA2 | c.5242A= (p.Ser1748=) c.4873A= (p.Ser1625=) n.5242A= | |
13 | g.32339597A>C | CA387784684 | BRCA2 | c.5242A>C (p.Ser1748Arg) c.4873A>C (p.Ser1625Arg) n.5242A>C | |
13 | g.32339597A>G | CA387784685 | BRCA2 | c.5242A>G (p.Ser1748Gly) c.4873A>G (p.Ser1625Gly) n.5242A>G | ClinVar dbSNP |
13 | g.32339597A>T | CA387784686 | BRCA2 | c.5242A>T (p.Ser1748Cys) c.4873A>T (p.Ser1625Cys) n.5242A>T | dbSNP |
13 | g.32339598_32339601dup | CA2082820893 | BRCA2 | c.5243_5246dup (p.Tyr1749Ter) c.4874_4877dup (p.Tyr1626Ter) n.5243_5246dup | dbSNP |
13 | g.32339598del | CA2622600344 | BRCA2 | c.5243del (p.Ser1748ThrfsTer29) c.4874del (p.Ser1625ThrfsTer29) n.5243del | gnomAD v4 |
13 | g.32339598G>A | CA387784689 | BRCA2 | c.5243G>A (p.Ser1748Asn) c.4874G>A (p.Ser1625Asn) n.5243G>A | dbSNP |
13 | g.32339598G>C | CA387784688 | BRCA2 | c.5243G>C (p.Ser1748Thr) c.4874G>C (p.Ser1625Thr) n.5243G>C | dbSNP |
13 | g.32339598G>T | CA387784687 | BRCA2 | c.5243G>T (p.Ser1748Ile) c.4874G>T (p.Ser1625Ile) n.5243G>T | dbSNP |
13 | g.32339599del | CA658761176 | BRCA2 | c.5244del (p.Tyr1749IlefsTer28) c.4875del (p.Tyr1626IlefsTer28) n.5244del | |
13 | g.32339599C>A | CA021843 | BRCA2 | c.5244C>A (p.Ser1748Arg) c.4875C>A (p.Ser1625Arg) n.5244C>A | ClinVar dbSNP |
13 | g.32339599C= | CA2082820913 | BRCA2 | c.5244C= (p.Ser1748=) c.4875C= (p.Ser1625=) n.5244C= | |
13 | g.32339599C>G | CA387784690 | BRCA2 | c.5244C>G (p.Ser1748Arg) c.4875C>G (p.Ser1625Arg) n.5244C>G | dbSNP |
13 | g.32339599C>T | CA10579648 | BRCA2 | c.5244C>T (p.Ser1748=) c.4875C>T (p.Ser1625=) n.5244C>T | ClinVar dbSNP |
13 | g.32339599_32339605del | CA2840299321 | BRCA2 | c.5244_5250del (p.Tyr1749ThrfsTer26) c.4875_4881del (p.Tyr1626ThrfsTer26) n.5244_5250del | |
13 | g.32339600T>A | CA387784691 | BRCA2 | c.5245T>A (p.Tyr1749Asn) c.4876T>A (p.Tyr1626Asn) n.5245T>A | dbSNP |
13 | g.32339600T>C | CA10579649 | BRCA2 | c.5245T>C (p.Tyr1749His) c.4876T>C (p.Tyr1626His) n.5245T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339600T>G | CA387784692 | BRCA2 | c.5245T>G (p.Tyr1749Asp) c.4876T>G (p.Tyr1626Asp) n.5245T>G | ClinVar dbSNP |
13 | g.32339600T= | CA2082820927 | BRCA2 | c.5245T= (p.Tyr1749=) c.4876T= (p.Tyr1626=) n.5245T= | |
13 | g.32339601A= | CA2082820939 | BRCA2 | c.5246A= (p.Tyr1749=) c.4877A= (p.Tyr1626=) n.5246A= | |
13 | g.32339601A>C | CA387784693 | BRCA2 | c.5246A>C (p.Tyr1749Ser) c.4877A>C (p.Tyr1626Ser) n.5246A>C | dbSNP gnomAD v4 |
13 | g.32339601A>G | CA6940859 | BRCA2 | c.5246A>G (p.Tyr1749Cys) c.4877A>G (p.Tyr1626Cys) n.5246A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339601A>T | CA387784694 | BRCA2 | c.5246A>T (p.Tyr1749Phe) c.4877A>T (p.Tyr1626Phe) n.5246A>T | dbSNP |
13 | g.32339602T>A | CA387784695 | BRCA2 | c.5247T>A (p.Tyr1749Ter) c.4878T>A (p.Tyr1626Ter) n.5247T>A | ClinVar dbSNP |
13 | g.32339602T>C | CA483438458 | BRCA2 | c.5247T>C (p.Tyr1749=) c.4878T>C (p.Tyr1626=) n.5247T>C | ClinVar dbSNP |
13 | g.32339602T>G | CA387784696 | BRCA2 | c.5247T>G (p.Tyr1749Ter) c.4878T>G (p.Tyr1626Ter) n.5247T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339602T= | CA2082820949 | BRCA2 | c.5247T= (p.Tyr1749=) c.4878T= (p.Tyr1626=) n.5247T= | |
13 | g.32339603T>A | CA387784697 | BRCA2 | c.5248T>A (p.Ser1750Thr) c.4879T>A (p.Ser1627Thr) n.5248T>A | dbSNP |
13 | g.32339603T>C | CA387784698 | BRCA2 | c.5248T>C (p.Ser1750Pro) c.4879T>C (p.Ser1627Pro) n.5248T>C | |
13 | g.32339603T>G | CA387784699 | BRCA2 | c.5248T>G (p.Ser1750Ala) c.4879T>G (p.Ser1627Ala) n.5248T>G | |
13 | g.32339603_32339604delinsTC | CA2082820960 | BRCA2 | c.5248_5249delinsTC (p.Ser1750=) c.4879_4880delinsTC (p.Ser1627=) n.5248_5249delinsTC | |
13 | g.32339604C>A | CA387784700 | BRCA2 | c.5249C>A (p.Ser1750Tyr) c.4880C>A (p.Ser1627Tyr) n.5249C>A | dbSNP |
13 | g.32339604C= | CA2082820976 | BRCA2 | c.5249C= (p.Ser1750=) c.4880C= (p.Ser1627=) n.5249C= | |
13 | g.32339604C>G | CA387784701 | BRCA2 | c.5249C>G (p.Ser1750Cys) c.4880C>G (p.Ser1627Cys) n.5249C>G | dbSNP gnomAD v4 |
13 | g.32339604C>T | CA021849 | BRCA2 | c.5249C>T (p.Ser1750Phe) c.4880C>T (p.Ser1627Phe) n.5249C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32339605del | CA021855 | BRCA2 | c.5250del (p.Tyr1751ThrfsTer26) c.4881del (p.Tyr1628ThrfsTer26) n.5250del | ClinVar dbSNP |
13 | g.32339605C>A | CA483438464 | BRCA2 | c.5250C>A (p.Ser1750=) c.4881C>A (p.Ser1627=) n.5250C>A | dbSNP |
13 | g.32339605C>G | CA483438465 | BRCA2 | c.5250C>G (p.Ser1750=) c.4881C>G (p.Ser1627=) n.5250C>G | ClinVar dbSNP |
13 | g.32339605C>T | CA483438466 | BRCA2 | c.5250C>T (p.Ser1750=) c.4881C>T (p.Ser1627=) n.5250C>T | dbSNP |
13 | g.32339606T>A | CA387784704 | BRCA2 | c.5251T>A (p.Tyr1751Asn) c.4882T>A (p.Tyr1628Asn) n.5251T>A | dbSNP |
13 | g.32339606T>C | CA387784702 | BRCA2 | c.5251T>C (p.Tyr1751His) c.4882T>C (p.Tyr1628His) n.5251T>C | dbSNP |
13 | g.32339606T>G | CA387784703 | BRCA2 | c.5251T>G (p.Tyr1751Asp) c.4882T>G (p.Tyr1628Asp) n.5251T>G | |
13 | g.32339607A= | CA2082820992 | BRCA2 | c.5252A= (p.Tyr1751=) c.4883A= (p.Tyr1628=) n.5252A= | |
13 | g.32339607A>C | CA387784705 | BRCA2 | c.5252A>C (p.Tyr1751Ser) c.4883A>C (p.Tyr1628Ser) n.5252A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339607A>G | CA387784706 | BRCA2 | c.5252A>G (p.Tyr1751Cys) c.4883A>G (p.Tyr1628Cys) n.5252A>G | ClinVar |
13 | g.32339607A>T | CA387784707 | BRCA2 | c.5252A>T (p.Tyr1751Phe) c.4883A>T (p.Tyr1628Phe) n.5252A>T | |
13 | g.32339607_32339608delinsAC | CA2082820991 | BRCA2 | c.5252_5253delinsAC (p.Tyr1751=) c.4883_4884delinsAC (p.Tyr1628=) n.5252_5253delinsAC | |
13 | g.32339607_32339608insAAGG | CA2840299322 | BRCA2 | c.5252_5253insAAGG (p.Tyr1751Ter) c.4883_4884insAAGG (p.Tyr1628Ter) n.5252_5253insAAGG | |
13 | g.32339608C>A | CA387784708 | BRCA2 | c.5253C>A (p.Tyr1751Ter) c.4884C>A (p.Tyr1628Ter) n.5253C>A | ClinVar dbSNP |
13 | g.32339608C= | CA2082821003 | BRCA2 | c.5253C= (p.Tyr1751=) c.4884C= (p.Tyr1628=) n.5253C= | |
13 | g.32339608C>G | CA387784709 | BRCA2 | c.5253C>G (p.Tyr1751Ter) c.4884C>G (p.Tyr1628Ter) n.5253C>G | dbSNP |
13 | g.32339608C>T | CA483438468 | BRCA2 | c.5253C>T (p.Tyr1751=) c.4884C>T (p.Tyr1628=) n.5253C>T | ClinVar dbSNP |
13 | g.32339609del | CA021869 | BRCA2 | c.5254del (p.His1752IlefsTer25) c.4885del (p.His1629IlefsTer25) n.5254del | ClinVar dbSNP |
13 | g.32339609C>A | CA387784710 | BRCA2 | c.5254C>A (p.His1752Asn) c.4885C>A (p.His1629Asn) n.5254C>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32339609C= | CA2082821014 | BRCA2 | c.5254C= (p.His1752=) c.4885C= (p.His1629=) n.5254C= | |
13 | g.32339609C>G | CA387784711 | BRCA2 | c.5254C>G (p.His1752Asp) c.4885C>G (p.His1629Asp) n.5254C>G | dbSNP |
13 | g.32339609C>T | CA021863 | BRCA2 | c.5254C>T (p.His1752Tyr) c.4885C>T (p.His1629Tyr) n.5254C>T | ClinVar dbSNP |
13 | g.32339610A= | CA2082821019 | BRCA2 | c.5255A= (p.His1752=) c.4886A= (p.His1629=) n.5255A= | |
13 | g.32339610A>C | CA387784712 | BRCA2 | c.5255A>C (p.His1752Pro) c.4886A>C (p.His1629Pro) n.5255A>C | |
13 | g.32339610A>G | CA387784713 | BRCA2 | c.5255A>G (p.His1752Arg) c.4886A>G (p.His1629Arg) n.5255A>G | dbSNP gnomAD v2 |
13 | g.32339610A>T | CA387784714 | BRCA2 | c.5255A>T (p.His1752Leu) c.4886A>T (p.His1629Leu) n.5255A>T | |
13 | g.32339611T>A | CA387784715 | BRCA2 | c.5256T>A (p.His1752Gln) c.4887T>A (p.His1629Gln) n.5256T>A | dbSNP |
13 | g.32339611T>C | CA483438473 | BRCA2 | c.5256T>C (p.His1752=) c.4887T>C (p.His1629=) n.5256T>C | dbSNP gnomAD v4 |
13 | g.32339611T>G | CA387784716 | BRCA2 | c.5256T>G (p.His1752Gln) c.4887T>G (p.His1629Gln) n.5256T>G | |
13 | g.32339612T>A | CA387784717 | BRCA2 | c.5257T>A (p.Ser1753Thr) c.4888T>A (p.Ser1630Thr) n.5257T>A | dbSNP |
13 | g.32339612T>C | CA387784718 | BRCA2 | c.5257T>C (p.Ser1753Pro) c.4888T>C (p.Ser1630Pro) n.5257T>C | dbSNP |
13 | g.32339612T>G | CA387784719 | BRCA2 | c.5257T>G (p.Ser1753Ala) c.4888T>G (p.Ser1630Ala) n.5257T>G | ClinVar |
13 | g.32339613C>A | CA387784720 | BRCA2 | c.5258C>A (p.Ser1753Tyr) c.4889C>A (p.Ser1630Tyr) n.5258C>A | dbSNP |
13 | g.32339613C= | CA2082821024 | BRCA2 | c.5258C= (p.Ser1753=) c.4889C= (p.Ser1630=) n.5258C= | |
13 | g.32339613C>G | CA387784721 | BRCA2 | c.5258C>G (p.Ser1753Cys) c.4889C>G (p.Ser1630Cys) n.5258C>G | dbSNP gnomAD v4 |
13 | g.32339613C>T | CA387784722 | BRCA2 | c.5258C>T (p.Ser1753Phe) c.4889C>T (p.Ser1630Phe) n.5258C>T | ClinVar dbSNP |
13 | g.32339614T>A | CA483438478 | BRCA2 | c.5259T>A (p.Ser1753=) c.4890T>A (p.Ser1630=) n.5259T>A | dbSNP |
13 | g.32339614T>C | CA483438479 | BRCA2 | c.5259T>C (p.Ser1753=) c.4890T>C (p.Ser1630=) n.5259T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339614T>G | CA483438480 | BRCA2 | c.5259T>G (p.Ser1753=) c.4890T>G (p.Ser1630=) n.5259T>G | |
13 | g.32339615G>A | CA387784724 | BRCA2 | c.5260G>A (p.Asp1754Asn) c.4891G>A (p.Asp1631Asn) n.5260G>A | ClinVar dbSNP |
13 | g.32339615G>C | CA6940860 | BRCA2 | c.5260G>C (p.Asp1754His) c.4891G>C (p.Asp1631His) n.5260G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339615G= | CA2082821032 | BRCA2 | c.5260G= (p.Asp1754=) c.4891G= (p.Asp1631=) n.5260G= | |
13 | g.32339615G>T | CA387784723 | BRCA2 | c.5260G>T (p.Asp1754Tyr) c.4891G>T (p.Asp1631Tyr) n.5260G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339616A= | CA2082821040 | BRCA2 | c.5261A= (p.Asp1754=) c.4892A= (p.Asp1631=) n.5261A= | |
13 | g.32339616A>C | CA247509846 | BRCA2 | c.5261A>C (p.Asp1754Ala) c.4892A>C (p.Asp1631Ala) n.5261A>C | dbSNP |
13 | g.32339616A>G | CA6940861 | BRCA2 | c.5261A>G (p.Asp1754Gly) c.4892A>G (p.Asp1631Gly) n.5261A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339616A>T | CA387784725 | BRCA2 | c.5261A>T (p.Asp1754Val) c.4892A>T (p.Asp1631Val) n.5261A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339617T>A | CA387784726 | BRCA2 | c.5262T>A (p.Asp1754Glu) c.4893T>A (p.Asp1631Glu) n.5262T>A | dbSNP |
13 | g.32339617T>C | CA483438482 | BRCA2 | c.5262T>C (p.Asp1754=) c.4893T>C (p.Asp1631=) n.5262T>C | dbSNP |
13 | g.32339617T>G | CA387784727 | BRCA2 | c.5262T>G (p.Asp1754Glu) c.4893T>G (p.Asp1631Glu) n.5262T>G | |
13 | g.32339618G>A | CA387784729 | BRCA2 | c.5263G>A (p.Glu1755Lys) c.4894G>A (p.Glu1632Lys) n.5263G>A | ClinVar |
13 | g.32339618G>C | CA387784728 | BRCA2 | c.5263G>C (p.Glu1755Gln) c.4894G>C (p.Glu1632Gln) n.5263G>C | |
13 | g.32339618G= | CA2082821046 | BRCA2 | c.5263G= (p.Glu1755=) c.4894G= (p.Glu1632=) n.5263G= | |
13 | g.32339618G>T | CA10589304 | BRCA2 | c.5263G>T (p.Glu1755Ter) c.4894G>T (p.Glu1632Ter) n.5263G>T | ClinVar dbSNP |
13 | g.32339619A>C | CA387784730 | BRCA2 | c.5264A>C (p.Glu1755Ala) c.4895A>C (p.Glu1632Ala) n.5264A>C | dbSNP |
13 | g.32339619A>G | CA387784731 | BRCA2 | c.5264A>G (p.Glu1755Gly) c.4895A>G (p.Glu1632Gly) n.5264A>G | ClinVar dbSNP |
13 | g.32339619A>T | CA387784732 | BRCA2 | c.5264A>T (p.Glu1755Val) c.4895A>T (p.Glu1632Val) n.5264A>T | dbSNP gnomAD v4 |
13 | g.32339620G>A | CA021875 | BRCA2 | c.5265G>A (p.Glu1755=) c.4896G>A (p.Glu1632=) n.5265G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339620G>C | CA387784733 | BRCA2 | c.5265G>C (p.Glu1755Asp) c.4896G>C (p.Glu1632Asp) n.5265G>C | dbSNP |
13 | g.32339620G= | CA2082821056 | BRCA2 | c.5265G= (p.Glu1755=) c.4896G= (p.Glu1632=) n.5265G= | |
13 | g.32339620G>T | CA387784734 | BRCA2 | c.5265G>T (p.Glu1755Asp) c.4896G>T (p.Glu1632Asp) n.5265G>T | dbSNP |
13 | g.32339621dup | CA2580087328 | BRCA2 | c.5266dup (p.Val1756GlyfsTer3) c.4897dup (p.Val1633GlyfsTer3) n.5266dup | ClinVar |
13 | g.32339620_32339624delinsGGTAT | CA2082821053 | BRCA2 | c.5265_5269delinsGGTAT (p.Glu1755=) c.4896_4900delinsGGTAT (p.Glu1632=) n.5265_5269delinsGGTAT | |
13 | g.32339621G>A | CA387784735 | BRCA2 | c.5266G>A (p.Val1756Ile) c.4897G>A (p.Val1633Ile) n.5266G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339621G>C | CA10579650 | BRCA2 | c.5266G>C (p.Val1756Leu) c.4897G>C (p.Val1633Leu) n.5266G>C | ClinVar dbSNP |
13 | g.32339621G= | CA2082821073 | BRCA2 | c.5266G= (p.Val1756=) c.4897G= (p.Val1633=) n.5266G= | |
13 | g.32339621G>T | CA387784736 | BRCA2 | c.5266G>T (p.Val1756Leu) c.4897G>T (p.Val1633Leu) n.5266G>T | dbSNP |
13 | g.32339621_32339624del | CA021880 | BRCA2 | c.5266_5269del (p.Val1756IlefsTer20) c.4897_4900del (p.Val1633IlefsTer20) n.5266_5269del | ClinVar dbSNP |
13 | g.32339621_32339638delinsGTATATAATGATTCAGGA | CA2082821075 | BRCA2 | c.5266_5283delinsGTATATAATGATTCAGGA (p.Val1756=) c.4897_4914delinsGTATATAATGATTCAGGA (p.Val1633=) n.5266_5283delinsGTATATAATGATTCAGGA | |
13 | g.32339622T>A | CA6940863 | BRCA2 | c.5267T>A (p.Val1756Glu) c.4898T>A (p.Val1633Glu) n.5267T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339622T>C | CA387784737 | BRCA2 | c.5267T>C (p.Val1756Ala) c.4898T>C (p.Val1633Ala) n.5267T>C | dbSNP |
13 | g.32339622T>G | CA387784738 | BRCA2 | c.5267T>G (p.Val1756Gly) c.4898T>G (p.Val1633Gly) n.5267T>G | dbSNP |
13 | g.32339622T= | CA2082821094 | BRCA2 | c.5267T= (p.Val1756=) c.4898T= (p.Val1633=) n.5267T= | |
13 | g.32339622_32339637delinsTATATAATGATTCAGG | CA2082821096 | BRCA2 | c.5267_5282delinsTATATAATGATTCAGG (p.Val1756=) c.4898_4913delinsTATATAATGATTCAGG (p.Val1633=) n.5267_5282delinsTATATAATGATTCAGG | |
13 | g.32339625_32339641del | CA021904 | BRCA2 | c.5270_5286del (p.Tyr1757SerfsTer5) c.4901_4917del (p.Tyr1634SerfsTer5) n.5270_5286del | ClinVar dbSNP |
13 | g.32339623A= | CA2082821103 | BRCA2 | c.5268A= (p.Val1756=) c.4899A= (p.Val1633=) n.5268A= | |
13 | g.32339623A>C | CA483438486 | BRCA2 | c.5268A>C (p.Val1756=) c.4899A>C (p.Val1633=) n.5268A>C | |
13 | g.32339623A>G | CA021893 | BRCA2 | c.5268A>G (p.Val1756=) c.4899A>G (p.Val1633=) n.5268A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339623A>T | CA483438487 | BRCA2 | c.5268A>T (p.Val1756=) c.4899A>T (p.Val1633=) n.5268A>T | dbSNP |
13 | g.32339627_32339641del | CA6940862 | BRCA2 | c.5272_5286del (p.Asn1758_Tyr1762del) c.4903_4917del (p.Asn1635_Tyr1639del) n.5272_5286del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339624T>A | CA387784739 | BRCA2 | c.5269T>A (p.Tyr1757Asn) c.4900T>A (p.Tyr1634Asn) n.5269T>A | dbSNP |
13 | g.32339624T>C | CA387784740 | BRCA2 | c.5269T>C (p.Tyr1757His) c.4900T>C (p.Tyr1634His) n.5269T>C | ClinVar dbSNP |
13 | g.32339624T>G | CA387784741 | BRCA2 | c.5269T>G (p.Tyr1757Asp) c.4900T>G (p.Tyr1634Asp) n.5269T>G | dbSNP |
13 | g.32339624T= | CA2082821121 | BRCA2 | c.5269T= (p.Tyr1757=) c.4900T= (p.Tyr1634=) n.5269T= | |
13 | g.32339624_32339627delinsTATA | CA2082821116 | BRCA2 | c.5269_5272delinsTATA (p.Tyr1757=) c.4900_4903delinsTATA (p.Tyr1634=) n.5269_5272delinsTATA | |
13 | g.32339624_32339628delinsTATAA | CA2082821118 | BRCA2 | c.5269_5273delinsTATAA (p.Tyr1757=) c.4900_4904delinsTATAA (p.Tyr1634=) n.5269_5273delinsTATAA | |
13 | g.32339625A= | CA2082821132 | BRCA2 | c.5270A= (p.Tyr1757=) c.4901A= (p.Tyr1634=) n.5270A= | |
13 | g.32339625A>C | CA387784743 | BRCA2 | c.5270A>C (p.Tyr1757Ser) c.4901A>C (p.Tyr1634Ser) n.5270A>C | |
13 | g.32339625A>G | CA021909 | BRCA2 | c.5270A>G (p.Tyr1757Cys) c.4901A>G (p.Tyr1634Cys) n.5270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339625A>T | CA387784742 | BRCA2 | c.5270A>T (p.Tyr1757Phe) c.4901A>T (p.Tyr1634Phe) n.5270A>T | dbSNP |
13 | g.32339625_32339628del | CA10589305 | BRCA2 | c.5270_5273del (p.Tyr1757LeufsTer19) c.4901_4904del (p.Tyr1634LeufsTer19) n.5270_5273del | ClinVar dbSNP |
13 | g.32339627_32339629del | CA021899 | BRCA2 | c.5272_5274del (p.Asn1758del) c.4903_4905del (p.Asn1635del) n.5272_5274del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339626T>A | CA387784744 | BRCA2 | c.5271T>A (p.Tyr1757Ter) c.4902T>A (p.Tyr1634Ter) n.5271T>A | ClinVar dbSNP |
13 | g.32339626T>C | CA483438490 | BRCA2 | c.5271T>C (p.Tyr1757=) c.4902T>C (p.Tyr1634=) n.5271T>C | ClinVar dbSNP |
13 | g.32339626T>G | CA387784745 | BRCA2 | c.5271T>G (p.Tyr1757Ter) c.4902T>G (p.Tyr1634Ter) n.5271T>G | |
13 | g.32339626T= | CA2082821151 | BRCA2 | c.5271T= (p.Tyr1757=) c.4902T= (p.Tyr1634=) n.5271T= | |
13 | g.32339627A= | CA2082821169 | BRCA2 | c.5272A= (p.Asn1758=) c.4903A= (p.Asn1635=) n.5272A= | |
13 | g.32339627A>C | CA387784746 | BRCA2 | c.5272A>C (p.Asn1758His) c.4903A>C (p.Asn1635His) n.5272A>C | |
13 | g.32339627A>G | CA021918 | BRCA2 | c.5272A>G (p.Asn1758Asp) c.4903A>G (p.Asn1635Asp) n.5272A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32339627A>T | CA387784747 | BRCA2 | c.5272A>T (p.Asn1758Tyr) c.4903A>T (p.Asn1635Tyr) n.5272A>T | dbSNP |
13 | g.32339628A= | CA2082821212 | BRCA2 | c.5273A= (p.Asn1758=) c.4904A= (p.Asn1635=) n.5273A= | |
13 | g.32339628A>C | CA387784750 | BRCA2 | c.5273A>C (p.Asn1758Thr) c.4904A>C (p.Asn1635Thr) n.5273A>C | |
13 | g.32339628A>G | CA387784748 | BRCA2 | c.5273A>G (p.Asn1758Ser) c.4904A>G (p.Asn1635Ser) n.5273A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339628A>T | CA387784749 | BRCA2 | c.5273A>T (p.Asn1758Ile) c.4904A>T (p.Asn1635Ile) n.5273A>T | |
13 | g.32339629T>A | CA387784751 | BRCA2 | c.5274T>A (p.Asn1758Lys) c.4905T>A (p.Asn1635Lys) n.5274T>A | dbSNP |
13 | g.32339629T>C | CA483438491 | BRCA2 | c.5274T>C (p.Asn1758=) c.4905T>C (p.Asn1635=) n.5274T>C | ClinVar dbSNP |
13 | g.32339629T>G | CA387784752 | BRCA2 | c.5274T>G (p.Asn1758Lys) c.4905T>G (p.Asn1635Lys) n.5274T>G | dbSNP |
13 | g.32339629T= | CA2082821213 | BRCA2 | c.5274T= (p.Asn1758=) c.4905T= (p.Asn1635=) n.5274T= | |
13 | g.32339630G>A | CA387784753 | BRCA2 | c.5275G>A (p.Asp1759Asn) c.4906G>A (p.Asp1636Asn) n.5275G>A | dbSNP |
13 | g.32339630G>C | CA16613889 | BRCA2 | c.5275G>C (p.Asp1759His) c.4906G>C (p.Asp1636His) n.5275G>C | ClinVar dbSNP |
13 | g.32339630G= | CA2082821214 | BRCA2 | c.5275G= (p.Asp1759=) c.4906G= (p.Asp1636=) n.5275G= | |
13 | g.32339630G>T | CA387784754 | BRCA2 | c.5275G>T (p.Asp1759Tyr) c.4906G>T (p.Asp1636Tyr) n.5275G>T | dbSNP |
13 | g.32339631A= | CA2082821215 | BRCA2 | c.5276A= (p.Asp1759=) c.4907A= (p.Asp1636=) n.5276A= | |
13 | g.32339631A>C | CA387784755 | BRCA2 | c.5276A>C (p.Asp1759Ala) c.4907A>C (p.Asp1636Ala) n.5276A>C | |
13 | g.32339631A>G | CA387784757 | BRCA2 | c.5276A>G (p.Asp1759Gly) c.4907A>G (p.Asp1636Gly) n.5276A>G | dbSNP |
13 | g.32339631A>T | CA387784756 | BRCA2 | c.5276A>T (p.Asp1759Val) c.4907A>T (p.Asp1636Val) n.5276A>T | dbSNP |
13 | g.32339632T>A | CA387784758 | BRCA2 | c.5277T>A (p.Asp1759Glu) c.4908T>A (p.Asp1636Glu) n.5277T>A | dbSNP |
13 | g.32339632T>C | CA483438494 | BRCA2 | c.5277T>C (p.Asp1759=) c.4908T>C (p.Asp1636=) n.5277T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339632T>G | CA387784759 | BRCA2 | c.5277T>G (p.Asp1759Glu) c.4908T>G (p.Asp1636Glu) n.5277T>G | |
13 | g.32339632T= | CA2082821216 | BRCA2 | c.5277T= (p.Asp1759=) c.4908T= (p.Asp1636=) n.5277T= | |
13 | g.32339633dup | CA915948488 | BRCA2 | c.5278dup (p.Ser1760PhefsTer8) c.4909dup (p.Ser1637PhefsTer8) n.5278dup | ClinVar dbSNP |
13 | g.32339633T>A | CA387784760 | BRCA2 | c.5278T>A (p.Ser1760Thr) c.4909T>A (p.Ser1637Thr) n.5278T>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339633T>C | CA387784761 | BRCA2 | c.5278T>C (p.Ser1760Pro) c.4909T>C (p.Ser1637Pro) n.5278T>C | dbSNP |
13 | g.32339633T>G | CA021926 | BRCA2 | c.5278T>G (p.Ser1760Ala) c.4909T>G (p.Ser1637Ala) n.5278T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339633T= | CA2082821226 | BRCA2 | c.5278T= (p.Ser1760=) c.4909T= (p.Ser1637=) n.5278T= | |
13 | g.32339634del | CA2573149337 | BRCA2 | c.5279del (p.Ser1760Ter) c.4910del (p.Ser1637Ter) n.5279del | ClinVar dbSNP |
13 | g.32339634C>A | CA387784762 | BRCA2 | c.5279C>A (p.Ser1760Ter) c.4910C>A (p.Ser1637Ter) n.5279C>A | ClinVar dbSNP |
13 | g.32339634C= | CA2082821238 | BRCA2 | c.5279C= (p.Ser1760=) c.4910C= (p.Ser1637=) n.5279C= | |
13 | g.32339634C>G | CA021930 | BRCA2 | c.5279C>G (p.Ser1760Ter) c.4910C>G (p.Ser1637Ter) n.5279C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339634C>T | CA387784763 | BRCA2 | c.5279C>T (p.Ser1760Leu) c.4910C>T (p.Ser1637Leu) n.5279C>T | dbSNP |
13 | g.32339634dup | CA2499222193 | BRCA2 | c.5279dup (p.Gly1761ArgfsTer7) c.4910dup (p.Gly1638ArgfsTer7) n.5279dup | ClinVar dbSNP |
13 | g.32339635A>C | CA483438498 | BRCA2 | c.5280A>C (p.Ser1760=) c.4911A>C (p.Ser1637=) n.5280A>C | |
13 | g.32339635A>G | CA483438499 | BRCA2 | c.5280A>G (p.Ser1760=) c.4911A>G (p.Ser1637=) n.5280A>G | dbSNP |
13 | g.32339635A>T | CA483438500 | BRCA2 | c.5280A>T (p.Ser1760=) c.4911A>T (p.Ser1637=) n.5280A>T | dbSNP |
13 | g.32339636G>A | CA387784764 | BRCA2 | c.5281G>A (p.Gly1761Arg) c.4912G>A (p.Gly1638Arg) n.5281G>A | ClinVar dbSNP |
13 | g.32339636G>C | CA387784765 | BRCA2 | c.5281G>C (p.Gly1761Arg) c.4912G>C (p.Gly1638Arg) n.5281G>C | ClinVar dbSNP |
13 | g.32339636G= | CA2082821248 | BRCA2 | c.5281G= (p.Gly1761=) c.4912G= (p.Gly1638=) n.5281G= | |
13 | g.32339636G>T | CA10586539 | BRCA2 | c.5281G>T (p.Gly1761Ter) c.4912G>T (p.Gly1638Ter) n.5281G>T | ClinVar dbSNP |
13 | g.32339637G>A | CA021937 | BRCA2 | c.5282G>A (p.Gly1761Glu) c.4913G>A (p.Gly1638Glu) n.5282G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32339637G>C | CA021942 | BRCA2 | c.5282G>C (p.Gly1761Ala) c.4913G>C (p.Gly1638Ala) n.5282G>C | ClinVar dbSNP |
13 | g.32339637G= | CA2082821271 | BRCA2 | c.5282G= (p.Gly1761=) c.4913G= (p.Gly1638=) n.5282G= | |
13 | g.32339637G>T | CA387784766 | BRCA2 | c.5282G>T (p.Gly1761Val) c.4913G>T (p.Gly1638Val) n.5282G>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32339638A= | CA2082821279 | BRCA2 | c.5283A= (p.Gly1761=) c.4914A= (p.Gly1638=) n.5283A= | |
13 | g.32339638A>C | CA483438501 | BRCA2 | c.5283A>C (p.Gly1761=) c.4914A>C (p.Gly1638=) n.5283A>C | |
13 | g.32339638A>G | CA10579651 | BRCA2 | c.5283A>G (p.Gly1761=) c.4914A>G (p.Gly1638=) n.5283A>G | ClinVar dbSNP |
13 | g.32339638A>T | CA483438502 | BRCA2 | c.5283A>T (p.Gly1761=) c.4914A>T (p.Gly1638=) n.5283A>T | ClinVar dbSNP |
13 | g.32339639T>A | CA387784767 | BRCA2 | c.5284T>A (p.Tyr1762Asn) c.4915T>A (p.Tyr1639Asn) n.5284T>A | ClinVar dbSNP |
13 | g.32339639T>C | CA387784768 | BRCA2 | c.5284T>C (p.Tyr1762His) c.4915T>C (p.Tyr1639His) n.5284T>C | ClinVar dbSNP |
13 | g.32339639T>G | CA387784769 | BRCA2 | c.5284T>G (p.Tyr1762Asp) c.4915T>G (p.Tyr1639Asp) n.5284T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339639T= | CA2082821295 | BRCA2 | c.5284T= (p.Tyr1762=) c.4915T= (p.Tyr1639=) n.5284T= | |
13 | g.32339639_32339640insTC | CA919242496 | BRCA2 | c.5284_5285insTC (p.Tyr1762PhefsTer16) c.4915_4916insTC (p.Tyr1639PhefsTer16) n.5284_5285insTC | dbSNP |
13 | g.32339640A= | CA2082821304 | BRCA2 | c.5285A= (p.Tyr1762=) c.4916A= (p.Tyr1639=) n.5285A= | |
13 | g.32339640A>C | CA021948 | BRCA2 | c.5285A>C (p.Tyr1762Ser) c.4916A>C (p.Tyr1639Ser) n.5285A>C | ClinVar dbSNP |
13 | g.32339640A>G | CA387784770 | BRCA2 | c.5285A>G (p.Tyr1762Cys) c.4916A>G (p.Tyr1639Cys) n.5285A>G | ClinVar dbSNP |
13 | g.32339640A>T | CA387784771 | BRCA2 | c.5285A>T (p.Tyr1762Phe) c.4916A>T (p.Tyr1639Phe) n.5285A>T | dbSNP |
13 | g.32339640_32339642delinsATC | CA2082821319 | BRCA2 | c.5285_5287delinsATC (p.Tyr1762=) c.4916_4918delinsATC (p.Tyr1639=) n.5285_5287delinsATC | |
13 | g.32339641_32339655del | CA2580087334 | BRCA2 | c.5286_5300del (p.Tyr1762Ter) c.4917_4931del (p.Tyr1639Ter) n.5286_5300del | ClinVar |
13 | g.32339641T>A | CA021955 | BRCA2 | c.5286T>A (p.Tyr1762Ter) c.4917T>A (p.Tyr1639Ter) n.5286T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32339641T>C | CA483438504 | BRCA2 | c.5286T>C (p.Tyr1762=) c.4917T>C (p.Tyr1639=) n.5286T>C | |
13 | g.32339641T>G | CA387784772 | BRCA2 | c.5286T>G (p.Tyr1762Ter) c.4917T>G (p.Tyr1639Ter) n.5286T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339641T= | CA2082821336 | BRCA2 | c.5286T= (p.Tyr1762=) c.4917T= (p.Tyr1639=) n.5286T= | |
13 | g.32339645_32339646dup | CA2695217888 | BRCA2 | c.5290_5291dup (p.Lys1765GlnfsTer13) c.4921_4922dup (p.Lys1642GlnfsTer13) n.5290_5291dup | |
13 | g.32339645_32339646del | CA021961 | BRCA2 | c.5290_5291del (p.Ser1764LysfsTer3) c.4921_4922del (p.Ser1641LysfsTer3) n.5290_5291del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339642C>A | CA387784773 | BRCA2 | c.5287C>A (p.Leu1763Ile) c.4918C>A (p.Leu1640Ile) n.5287C>A | dbSNP |
13 | g.32339642C>G | CA387784774 | BRCA2 | c.5287C>G (p.Leu1763Val) c.4918C>G (p.Leu1640Val) n.5287C>G | |
13 | g.32339642C>T | CA387784776 | BRCA2 | c.5287C>T (p.Leu1763Phe) c.4918C>T (p.Leu1640Phe) n.5287C>T | dbSNP |
13 | g.32339643T>A | CA387784780 | BRCA2 | c.5288T>A (p.Leu1763His) c.4919T>A (p.Leu1640His) n.5288T>A | dbSNP |
13 | g.32339643T>C | CA387784777 | BRCA2 | c.5288T>C (p.Leu1763Pro) c.4919T>C (p.Leu1640Pro) n.5288T>C | dbSNP |
13 | g.32339643T>G | CA387784779 | BRCA2 | c.5288T>G (p.Leu1763Arg) c.4919T>G (p.Leu1640Arg) n.5288T>G | |
13 | g.32339644C>A | CA483438506 | BRCA2 | c.5289C>A (p.Leu1763=) c.4920C>A (p.Leu1640=) n.5289C>A | ClinVar dbSNP |
13 | g.32339644C= | CA2082821360 | BRCA2 | c.5289C= (p.Leu1763=) c.4920C= (p.Leu1640=) n.5289C= | |
13 | g.32339644C>G | CA483438507 | BRCA2 | c.5289C>G (p.Leu1763=) c.4920C>G (p.Leu1640=) n.5289C>G | ClinVar dbSNP |
13 | g.32339644C>T | CA6940864 | BRCA2 | c.5289C>T (p.Leu1763=) c.4920C>T (p.Leu1640=) n.5289C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339645T>A | CA387784782 | BRCA2 | c.5290T>A (p.Ser1764Thr) c.4921T>A (p.Ser1641Thr) n.5290T>A | dbSNP |
13 | g.32339645T>C | CA387784783 | BRCA2 | c.5290T>C (p.Ser1764Pro) c.4921T>C (p.Ser1641Pro) n.5290T>C | ClinVar dbSNP |
13 | g.32339645T>G | CA387784785 | BRCA2 | c.5290T>G (p.Ser1764Ala) c.4921T>G (p.Ser1641Ala) n.5290T>G | |
13 | g.32339646C>A | CA387784787 | BRCA2 | c.5291C>A (p.Ser1764Ter) c.4922C>A (p.Ser1641Ter) n.5291C>A | gnomAD v4 |
13 | g.32339646C= | CA2082821370 | BRCA2 | c.5291C= (p.Ser1764=) c.4922C= (p.Ser1641=) n.5291C= | |
13 | g.32339646C>G | CA021968 | BRCA2 | c.5291C>G (p.Ser1764Ter) c.4922C>G (p.Ser1641Ter) n.5291C>G | ClinVar dbSNP |
13 | g.32339646C>T | CA387784789 | BRCA2 | c.5291C>T (p.Ser1764Leu) c.4922C>T (p.Ser1641Leu) n.5291C>T | dbSNP gnomAD v4 |
13 | g.32339646_32339647delinsCA | CA2082821379 | BRCA2 | c.5291_5292delinsCA (p.Ser1764=) c.4922_4923delinsCA (p.Ser1641=) n.5291_5292delinsCA | |
13 | g.32339647A= | CA2082821385 | BRCA2 | c.5292A= (p.Ser1764=) c.4923A= (p.Ser1641=) n.5292A= | |
13 | g.32339647A>C | CA483438508 | BRCA2 | c.5292A>C (p.Ser1764=) c.4923A>C (p.Ser1641=) n.5292A>C | dbSNP |
13 | g.32339647A>G | CA483438509 | BRCA2 | c.5292A>G (p.Ser1764=) c.4923A>G (p.Ser1641=) n.5292A>G | ClinVar dbSNP |
13 | g.32339647A>T | CA483438510 | BRCA2 | c.5292A>T (p.Ser1764=) c.4923A>T (p.Ser1641=) n.5292A>T | dbSNP |
13 | g.32339652dup | CA658656391 | BRCA2 | c.5297dup (p.Asn1766LysfsTer2) c.4928dup (p.Asn1643LysfsTer2) n.5297dup | ClinVar dbSNP gnomAD v4 |
13 | g.32339652del | CA2082821390 | BRCA2 | c.5297del (p.Asn1766IlefsTer11) c.4928del (p.Asn1643IlefsTer11) n.5297del | ClinVar dbSNP |
13 | g.32339648A= | CA2082821397 | BRCA2 | c.5293A= (p.Lys1765=) c.4924A= (p.Lys1642=) n.5293A= | |
13 | g.32339648A>C | CA387784791 | BRCA2 | c.5293A>C (p.Lys1765Gln) c.4924A>C (p.Lys1642Gln) n.5293A>C | |
13 | g.32339648A>G | CA387784792 | BRCA2 | c.5293A>G (p.Lys1765Glu) c.4924A>G (p.Lys1642Glu) n.5293A>G | ClinVar dbSNP |
13 | g.32339648A>T | CA10586073 | BRCA2 | c.5293A>T (p.Lys1765Ter) c.4924A>T (p.Lys1642Ter) n.5293A>T | ClinVar dbSNP |
13 | g.32339649A= | CA2082821413 | BRCA2 | c.5294A= (p.Lys1765=) c.4925A= (p.Lys1642=) n.5294A= | |
13 | g.32339649A>C | CA387784798 | BRCA2 | c.5294A>C (p.Lys1765Thr) c.4925A>C (p.Lys1642Thr) n.5294A>C | |
13 | g.32339649A>G | CA387784796 | BRCA2 | c.5294A>G (p.Lys1765Arg) c.4925A>G (p.Lys1642Arg) n.5294A>G | ClinVar dbSNP |
13 | g.32339649A>T | CA387784795 | BRCA2 | c.5294A>T (p.Lys1765Ile) c.4925A>T (p.Lys1642Ile) n.5294A>T | |
13 | g.32339649_32339653delinsAAAAT | CA2082821410 | BRCA2 | c.5294_5298delinsAAAAT (p.Lys1765=) c.4925_4929delinsAAAAT (p.Lys1642=) n.5294_5298delinsAAAAT | |
13 | g.32339650A>C | CA387784800 | BRCA2 | c.5295A>C (p.Lys1765Asn) c.4926A>C (p.Lys1642Asn) n.5295A>C | |
13 | g.32339650A>G | CA483438512 | BRCA2 | c.5295A>G (p.Lys1765=) c.4926A>G (p.Lys1642=) n.5295A>G | dbSNP |
13 | g.32339650A>T | CA387784801 | BRCA2 | c.5295A>T (p.Lys1765Asn) c.4926A>T (p.Lys1642Asn) n.5295A>T | dbSNP |
13 | g.32339650_32339653delinsAAAT | CA2082821423 | BRCA2 | c.5295_5298delinsAAAT (p.Lys1765=) c.4926_4929delinsAAAT (p.Lys1642=) n.5295_5298delinsAAAT | |
13 | g.32339653_32339656del | CA16619722 | BRCA2 | c.5298_5301del (p.Lys1767LeufsTer9) c.4929_4932del (p.Lys1644LeufsTer9) n.5298_5301del | ClinVar dbSNP |
13 | g.32339651A>C | CA387784802 | BRCA2 | c.5296A>C (p.Asn1766His) c.4927A>C (p.Asn1643His) n.5296A>C | |
13 | g.32339651A>G | CA387784804 | BRCA2 | c.5296A>G (p.Asn1766Asp) c.4927A>G (p.Asn1643Asp) n.5296A>G | |
13 | g.32339651A>T | CA387784805 | BRCA2 | c.5296A>T (p.Asn1766Tyr) c.4927A>T (p.Asn1643Tyr) n.5296A>T | |
13 | g.32339653_32339655del | CA919242502 | BRCA2 | c.5298_5300del (p.Asn1766del) c.4929_4931del (p.Asn1643del) n.5298_5300del | dbSNP |
13 | g.32339651_32339660delinsAATAAACTTG | CA2082821431 | BRCA2 | c.5296_5305delinsAATAAACTTG (p.Asn1766=) c.4927_4936delinsAATAAACTTG (p.Asn1643=) n.5296_5305delinsAATAAACTTG | |
13 | g.32339652A>C | CA387784807 | BRCA2 | c.5297A>C (p.Asn1766Thr) c.4928A>C (p.Asn1643Thr) n.5297A>C | dbSNP |
13 | g.32339652A>G | CA387784809 | BRCA2 | c.5297A>G (p.Asn1766Ser) c.4928A>G (p.Asn1643Ser) n.5297A>G | ClinVar |
13 | g.32339652A>T | CA387784810 | BRCA2 | c.5297A>T (p.Asn1766Ile) c.4928A>T (p.Asn1643Ile) n.5297A>T | dbSNP |
13 | g.32339652_32339653delinsAT | CA2082821676 | BRCA2 | c.5297_5298delinsAT (p.Asn1766=) c.4928_4929delinsAT (p.Asn1643=) n.5297_5298delinsAT | |
13 | g.32339654_32339662del | CA021981 | BRCA2 | c.5299_5307del (p.Lys1767_Asp1769del) c.4930_4938del (p.Lys1644_Asp1646del) n.5299_5307del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339653del | CA10589306 | BRCA2 | c.5298del (p.Asn1766LysfsTer11) c.4929del (p.Asn1643LysfsTer11) n.5298del | ClinVar dbSNP |
13 | g.32339653T>A | CA10590056 | BRCA2 | c.5298T>A (p.Asn1766Lys) c.4929T>A (p.Asn1643Lys) n.5298T>A | ClinVar dbSNP |
13 | g.32339653T>C | CA021975 | BRCA2 | c.5298T>C (p.Asn1766=) c.4929T>C (p.Asn1643=) n.5298T>C | ClinVar dbSNP |
13 | g.32339653T>G | CA387784814 | BRCA2 | c.5298T>G (p.Asn1766Lys) c.4929T>G (p.Asn1643Lys) n.5298T>G | |
13 | g.32339653T= | CA2082821704 | BRCA2 | c.5298T= (p.Asn1766=) c.4929T= (p.Asn1643=) n.5298T= | |
13 | g.32339654A= | CA2082821712 | BRCA2 | c.5299A= (p.Lys1767=) c.4930A= (p.Lys1644=) n.5299A= | |
13 | g.32339654A>C | CA387784816 | BRCA2 | c.5299A>C (p.Lys1767Gln) c.4930A>C (p.Lys1644Gln) n.5299A>C | |
13 | g.32339654A>G | CA387784818 | BRCA2 | c.5299A>G (p.Lys1767Glu) c.4930A>G (p.Lys1644Glu) n.5299A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339654A>T | CA387784820 | BRCA2 | c.5299A>T (p.Lys1767Ter) c.4930A>T (p.Lys1644Ter) n.5299A>T | dbSNP |
13 | g.32339656dup | CA1139770791 | BRCA2 | c.5301dup (p.Leu1768ThrfsTer2) c.4932dup (p.Leu1645ThrfsTer2) n.5301dup | |
13 | g.32339656del | CA2825002155 | BRCA2 | c.5301del (p.Lys1767AsnfsTer10) c.4932del (p.Lys1644AsnfsTer10) n.5301del | ClinVar |
13 | g.32339655A= | CA2082821724 | BRCA2 | c.5300A= (p.Lys1767=) c.4931A= (p.Lys1644=) n.5300A= | |
13 | g.32339655A>C | CA387784821 | BRCA2 | c.5300A>C (p.Lys1767Thr) c.4931A>C (p.Lys1644Thr) n.5300A>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339655A>G | CA387784824 | BRCA2 | c.5300A>G (p.Lys1767Arg) c.4931A>G (p.Lys1644Arg) n.5300A>G | ClinVar dbSNP |
13 | g.32339655A>T | CA387784822 | BRCA2 | c.5300A>T (p.Lys1767Ile) c.4931A>T (p.Lys1644Ile) n.5300A>T | dbSNP |
13 | g.32339656A= | CA2082821729 | BRCA2 | c.5301A= (p.Lys1767=) c.4932A= (p.Lys1644=) n.5301A= | |
13 | g.32339656A>C | CA387784826 | BRCA2 | c.5301A>C (p.Lys1767Asn) c.4932A>C (p.Lys1644Asn) n.5301A>C | dbSNP |
13 | g.32339656A>G | CA483438587 | BRCA2 | c.5301A>G (p.Lys1767=) c.4932A>G (p.Lys1644=) n.5301A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339656A>T | CA387784828 | BRCA2 | c.5301A>T (p.Lys1767Asn) c.4932A>T (p.Lys1644Asn) n.5301A>T | dbSNP |
13 | g.32339657C>A | CA387784829 | BRCA2 | c.5302C>A (p.Leu1768Ile) c.4933C>A (p.Leu1645Ile) n.5302C>A | dbSNP |
13 | g.32339657C>G | CA387784830 | BRCA2 | c.5302C>G (p.Leu1768Val) c.4933C>G (p.Leu1645Val) n.5302C>G | dbSNP |
13 | g.32339657C>T | CA387784832 | BRCA2 | c.5302C>T (p.Leu1768Phe) c.4933C>T (p.Leu1645Phe) n.5302C>T | ClinVar dbSNP |
13 | g.32339657_32339658delinsCT | CA2082821740 | BRCA2 | c.5302_5303delinsCT (p.Leu1768=) c.4933_4934delinsCT (p.Leu1645=) n.5302_5303delinsCT | |
13 | g.32339657_32339659delinsCTT | CA2082821734 | BRCA2 | c.5302_5304delinsCTT (p.Leu1768=) c.4933_4935delinsCTT (p.Leu1645=) n.5302_5304delinsCTT | |
13 | g.32339657_32339666delinsCTTGATTCTG | CA2082821742 | BRCA2 | c.5302_5311delinsCTTGATTCTG (p.Leu1768=) c.4933_4942delinsCTTGATTCTG (p.Leu1645=) n.5302_5311delinsCTTGATTCTG | |
13 | g.32339658T>A | CA387784835 | BRCA2 | c.5303T>A (p.Leu1768His) c.4934T>A (p.Leu1645His) n.5303T>A | ClinVar dbSNP |
13 | g.32339658T>C | CA387784836 | BRCA2 | c.5303T>C (p.Leu1768Pro) c.4934T>C (p.Leu1645Pro) n.5303T>C | |
13 | g.32339658T>G | CA387784838 | BRCA2 | c.5303T>G (p.Leu1768Arg) c.4934T>G (p.Leu1645Arg) n.5303T>G | |
13 | g.32339658_32339659del | CA021993 | BRCA2 | c.5303_5304del (p.Leu1768ArgfsTer5) c.4934_4935del (p.Leu1645ArgfsTer5) n.5303_5304del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339659del | CA10586540 | BRCA2 | c.5304del (p.Asp1769IlefsTer8) c.4935del (p.Asp1646IlefsTer8) n.5304del | ClinVar dbSNP |
13 | g.32339658_32339666delinsA | CA10589307 | BRCA2 | c.5303_5311delinsA (p.Leu1768GlnfsTer3) c.4934_4942delinsA (p.Leu1645GlnfsTer3) n.5303_5311delinsA | ClinVar dbSNP |
13 | g.32339659T>A | CA483438589 | BRCA2 | c.5304T>A (p.Leu1768=) c.4935T>A (p.Leu1645=) n.5304T>A | dbSNP |
13 | g.32339659T>C | CA483438590 | BRCA2 | c.5304T>C (p.Leu1768=) c.4935T>C (p.Leu1645=) n.5304T>C | dbSNP |
13 | g.32339659T>G | CA483438591 | BRCA2 | c.5304T>G (p.Leu1768=) c.4935T>G (p.Leu1645=) n.5304T>G | |
13 | g.32339659T= | CA2082821786 | BRCA2 | c.5304T= (p.Leu1768=) c.4935T= (p.Leu1645=) n.5304T= | |
13 | g.32339660del | CA2499222194 | BRCA2 | c.5305del (p.Asp1769IlefsTer8) c.4936del (p.Asp1646IlefsTer8) n.5305del | ClinVar dbSNP |
13 | g.32339660G>A | CA387784840 | BRCA2 | c.5305G>A (p.Asp1769Asn) c.4936G>A (p.Asp1646Asn) n.5305G>A | dbSNP |
13 | g.32339660G>C | CA387784844 | BRCA2 | c.5305G>C (p.Asp1769His) c.4936G>C (p.Asp1646His) n.5305G>C | dbSNP |
13 | g.32339660G>T | CA387784842 | BRCA2 | c.5305G>T (p.Asp1769Tyr) c.4936G>T (p.Asp1646Tyr) n.5305G>T | gnomAD v4 |
13 | g.32339661A= | CA2082821796 | BRCA2 | c.5306A= (p.Asp1769=) c.4937A= (p.Asp1646=) n.5306A= | |
13 | g.32339661A>C | CA387784845 | BRCA2 | c.5306A>C (p.Asp1769Ala) c.4937A>C (p.Asp1646Ala) n.5306A>C | dbSNP |
13 | g.32339661A>G | CA387784846 | BRCA2 | c.5306A>G (p.Asp1769Gly) c.4937A>G (p.Asp1646Gly) n.5306A>G | dbSNP gnomAD v4 |
13 | g.32339661A>T | CA247509943 | BRCA2 | c.5306A>T (p.Asp1769Val) c.4937A>T (p.Asp1646Val) n.5306A>T | dbSNP gnomAD v4 |
13 | g.32339661_32339662delinsAT | CA2082821792 | BRCA2 | c.5306_5307delinsAT (p.Asp1769=) c.4937_4938delinsAT (p.Asp1646=) n.5306_5307delinsAT | |
13 | g.32339662T>A | CA387784849 | BRCA2 | c.5307T>A (p.Asp1769Glu) c.4938T>A (p.Asp1646Glu) n.5307T>A | ClinVar dbSNP |
13 | g.32339662T>C | CA6940865 | BRCA2 | c.5307T>C (p.Asp1769=) c.4938T>C (p.Asp1646=) n.5307T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339662T>G | CA387784851 | BRCA2 | c.5307T>G (p.Asp1769Glu) c.4938T>G (p.Asp1646Glu) n.5307T>G | dbSNP |
13 | g.32339662T= | CA2082821830 | BRCA2 | c.5307T= (p.Asp1769=) c.4938T= (p.Asp1646=) n.5307T= | |
13 | g.32339663del | CA10579652 | BRCA2 | c.5308del (p.Ser1770LeufsTer7) c.4939del (p.Ser1647LeufsTer7) n.5308del | ClinVar dbSNP |
13 | g.32339663T>A | CA387784853 | BRCA2 | c.5308T>A (p.Ser1770Thr) c.4939T>A (p.Ser1647Thr) n.5308T>A | dbSNP |
13 | g.32339663T>C | CA387784855 | BRCA2 | c.5308T>C (p.Ser1770Pro) c.4939T>C (p.Ser1647Pro) n.5308T>C | dbSNP |
13 | g.32339663T>G | CA387784856 | BRCA2 | c.5308T>G (p.Ser1770Ala) c.4939T>G (p.Ser1647Ala) n.5308T>G | |
13 | g.32339664C>A | CA387784857 | BRCA2 | c.5309C>A (p.Ser1770Tyr) c.4940C>A (p.Ser1647Tyr) n.5309C>A | dbSNP |
13 | g.32339664C= | CA2082821837 | BRCA2 | c.5309C= (p.Ser1770=) c.4940C= (p.Ser1647=) n.5309C= | |
13 | g.32339664C>G | CA387784859 | BRCA2 | c.5309C>G (p.Ser1770Cys) c.4940C>G (p.Ser1647Cys) n.5309C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339664C>T | CA387784861 | BRCA2 | c.5309C>T (p.Ser1770Phe) c.4940C>T (p.Ser1647Phe) n.5309C>T | dbSNP |
13 | g.32339665T>A | CA483438595 | BRCA2 | c.5310T>A (p.Ser1770=) c.4941T>A (p.Ser1647=) n.5310T>A | |
13 | g.32339665T>C | CA483438596 | BRCA2 | c.5310T>C (p.Ser1770=) c.4941T>C (p.Ser1647=) n.5310T>C | |
13 | g.32339665T>G | CA483438597 | BRCA2 | c.5310T>G (p.Ser1770=) c.4941T>G (p.Ser1647=) n.5310T>G | ClinVar dbSNP |
13 | g.32339665T= | CA2082821850 | BRCA2 | c.5310T= (p.Ser1770=) c.4941T= (p.Ser1647=) n.5310T= | |
13 | g.32339666G>A | CA387784863 | BRCA2 | c.5311G>A (p.Gly1771Ser) c.4942G>A (p.Gly1648Ser) n.5311G>A | ClinVar dbSNP |
13 | g.32339666G>C | CA387784865 | BRCA2 | c.5311G>C (p.Gly1771Arg) c.4942G>C (p.Gly1648Arg) n.5311G>C | |
13 | g.32339666G= | CA2082821861 | BRCA2 | c.5311G= (p.Gly1771=) c.4942G= (p.Gly1648=) n.5311G= | |
13 | g.32339666G>T | CA387784864 | BRCA2 | c.5311G>T (p.Gly1771Cys) c.4942G>T (p.Gly1648Cys) n.5311G>T | |
13 | g.32339667G>A | CA022001 | BRCA2 | c.5312G>A (p.Gly1771Asp) c.4943G>A (p.Gly1648Asp) n.5312G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339667G>C | CA387784868 | BRCA2 | c.5312G>C (p.Gly1771Ala) c.4943G>C (p.Gly1648Ala) n.5312G>C | ClinVar dbSNP |
13 | g.32339667G= | CA2082821868 | BRCA2 | c.5312G= (p.Gly1771=) c.4943G= (p.Gly1648=) n.5312G= | |
13 | g.32339667G>T | CA10583113 | BRCA2 | c.5312G>T (p.Gly1771Val) c.4943G>T (p.Gly1648Val) n.5312G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339668_32339674del | CA2695217889 | BRCA2 | c.5313_5319del (p.Ile1772GlnfsTer3) c.4944_4950del (p.Ile1649GlnfsTer3) n.5313_5319del | |
13 | g.32339668T>A | CA483438599 | BRCA2 | c.5313T>A (p.Gly1771=) c.4944T>A (p.Gly1648=) n.5313T>A | dbSNP |
13 | g.32339668T>C | CA483438601 | BRCA2 | c.5313T>C (p.Gly1771=) c.4944T>C (p.Gly1648=) n.5313T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339668T>G | CA483438602 | BRCA2 | c.5313T>G (p.Gly1771=) c.4944T>G (p.Gly1648=) n.5313T>G | dbSNP |
13 | g.32339668T= | CA2082821877 | BRCA2 | c.5313T= (p.Gly1771=) c.4944T= (p.Gly1648=) n.5313T= | |
13 | g.32339669A= | CA2082821881 | BRCA2 | c.5314A= (p.Ile1772=) c.4945A= (p.Ile1649=) n.5314A= | |
13 | g.32339669A>C | CA387784870 | BRCA2 | c.5314A>C (p.Ile1772Leu) c.4945A>C (p.Ile1649Leu) n.5314A>C | dbSNP |
13 | g.32339669A>G | CA387784871 | BRCA2 | c.5314A>G (p.Ile1772Val) c.4945A>G (p.Ile1649Val) n.5314A>G | gnomAD v4 |
13 | g.32339669A>T | CA387784873 | BRCA2 | c.5314A>T (p.Ile1772Phe) c.4945A>T (p.Ile1649Phe) n.5314A>T | ClinVar dbSNP |
13 | g.32339670T>A | CA387784875 | BRCA2 | c.5315T>A (p.Ile1772Asn) c.4946T>A (p.Ile1649Asn) n.5315T>A | dbSNP |
13 | g.32339670T>C | CA387784876 | BRCA2 | c.5315T>C (p.Ile1772Thr) c.4946T>C (p.Ile1649Thr) n.5315T>C | dbSNP |
13 | g.32339670T>G | CA387784877 | BRCA2 | c.5315T>G (p.Ile1772Ser) c.4946T>G (p.Ile1649Ser) n.5315T>G | COSMIC COSMIC |