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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339182_32339192del | CA16621946 | BRCA2 | c.4827_4837del (p.Val1610Ter) c.4458_4468del (p.Val1487Ter) n.4827_4837del | |
| 13 | g.32339188G>A | CA16606790 | BRCA2 | c.4833G>A (p.Val1611=) c.4464G>A (p.Val1488=) n.4833G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339188G>C | CA483438387 | BRCA2 | c.4833G>C (p.Val1611=) c.4464G>C (p.Val1488=) n.4833G>C | |
| 13 | g.32339188G= | CA2082816290 | BRCA2 | c.4833G= (p.Val1611=) c.4464G= (p.Val1488=) n.4833G= | |
| 13 | g.32339188G>T | CA483438388 | BRCA2 | c.4833G>T (p.Val1611=) c.4464G>T (p.Val1488=) n.4833G>T | |
| 13 | g.32339189C>A | CA387783331 | BRCA2 | c.4834C>A (p.Pro1612Thr) c.4465C>A (p.Pro1489Thr) n.4834C>A | dbSNP |
| 13 | g.32339189C= | CA2082816297 | BRCA2 | c.4834C= (p.Pro1612=) c.4465C= (p.Pro1489=) n.4834C= | |
| 13 | g.32339189C>G | CA387783329 | BRCA2 | c.4834C>G (p.Pro1612Ala) c.4465C>G (p.Pro1489Ala) n.4834C>G | dbSNP |
| 13 | g.32339189C>T | CA387783330 | BRCA2 | c.4834C>T (p.Pro1612Ser) c.4465C>T (p.Pro1489Ser) n.4834C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339190C>A | CA387783333 | BRCA2 | c.4835C>A (p.Pro1612Gln) c.4466C>A (p.Pro1489Gln) n.4835C>A | dbSNP |
| 13 | g.32339190C= | CA2082816302 | BRCA2 | c.4835C= (p.Pro1612=) c.4466C= (p.Pro1489=) n.4835C= | |
| 13 | g.32339190C>G | CA387783335 | BRCA2 | c.4835C>G (p.Pro1612Arg) c.4466C>G (p.Pro1489Arg) n.4835C>G | dbSNP |
| 13 | g.32339190C>T | CA6940820 | BRCA2 | c.4835C>T (p.Pro1612Leu) c.4466C>T (p.Pro1489Leu) n.4835C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339191A>C | CA483438391 | BRCA2 | c.4836A>C (p.Pro1612=) c.4467A>C (p.Pro1489=) n.4836A>C | |
| 13 | g.32339191A>G | CA483438392 | BRCA2 | c.4836A>G (p.Pro1612=) c.4467A>G (p.Pro1489=) n.4836A>G | gnomAD v4 |
| 13 | g.32339191A>T | CA483438393 | BRCA2 | c.4836A>T (p.Pro1612=) c.4467A>T (p.Pro1489=) n.4836A>T | |
| 13 | g.32339192C>A | CA387783336 | BRCA2 | c.4837C>A (p.Pro1613Thr) c.4468C>A (p.Pro1490Thr) n.4837C>A | dbSNP |
| 13 | g.32339192C= | CA2082816308 | BRCA2 | c.4837C= (p.Pro1613=) c.4468C= (p.Pro1490=) n.4837C= | |
| 13 | g.32339192C>G | CA387783338 | BRCA2 | c.4837C>G (p.Pro1613Ala) c.4468C>G (p.Pro1490Ala) n.4837C>G | dbSNP |
| 13 | g.32339192C>T | CA387783340 | BRCA2 | c.4837C>T (p.Pro1613Ser) c.4468C>T (p.Pro1490Ser) n.4837C>T | ClinVar dbSNP |
| 13 | g.32339193dup | CA2695217882 | BRCA2 | c.4838dup (p.Lys1614Ter) c.4469dup (p.Lys1491Ter) n.4838dup | |
| 13 | g.32339193C>A | CA387783341 | BRCA2 | c.4838C>A (p.Pro1613His) c.4469C>A (p.Pro1490His) n.4838C>A | dbSNP |
| 13 | g.32339193C= | CA2082816314 | BRCA2 | c.4838C= (p.Pro1613=) c.4469C= (p.Pro1490=) n.4838C= | |
| 13 | g.32339193C>G | CA387783343 | BRCA2 | c.4838C>G (p.Pro1613Arg) c.4469C>G (p.Pro1490Arg) n.4838C>G | ClinVar dbSNP |
| 13 | g.32339193C>T | CA387783344 | BRCA2 | c.4838C>T (p.Pro1613Leu) c.4469C>T (p.Pro1490Leu) n.4838C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339194T>A | CA483438396 | BRCA2 | c.4839T>A (p.Pro1613=) c.4470T>A (p.Pro1490=) n.4839T>A | |
| 13 | g.32339194T>C | CA483438397 | BRCA2 | c.4839T>C (p.Pro1613=) c.4470T>C (p.Pro1490=) n.4839T>C | |
| 13 | g.32339194T>G | CA6940821 | BRCA2 | c.4839T>G (p.Pro1613=) c.4470T>G (p.Pro1490=) n.4839T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339194T= | CA2082816322 | BRCA2 | c.4839T= (p.Pro1613=) c.4470T= (p.Pro1490=) n.4839T= | |
| 13 | g.32339195A= | CA2082816328 | BRCA2 | c.4840A= (p.Lys1614=) c.4471A= (p.Lys1491=) n.4840A= | |
| 13 | g.32339195A>C | CA387783349 | BRCA2 | c.4840A>C (p.Lys1614Gln) c.4471A>C (p.Lys1491Gln) n.4840A>C | |
| 13 | g.32339195A>G | CA020896 | BRCA2 | c.4840A>G (p.Lys1614Glu) c.4471A>G (p.Lys1491Glu) n.4840A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339195A>T | CA387783347 | BRCA2 | c.4840A>T (p.Lys1614Ter) c.4471A>T (p.Lys1491Ter) n.4840A>T | dbSNP gnomAD v4 |
| 13 | g.32339196A>C | CA387783351 | BRCA2 | c.4841A>C (p.Lys1614Thr) c.4472A>C (p.Lys1491Thr) n.4841A>C | |
| 13 | g.32339196A>G | CA387783352 | BRCA2 | c.4841A>G (p.Lys1614Arg) c.4472A>G (p.Lys1491Arg) n.4841A>G | dbSNP |
| 13 | g.32339196A>T | CA387783354 | BRCA2 | c.4841A>T (p.Lys1614Met) c.4472A>T (p.Lys1491Met) n.4841A>T | dbSNP |
| 13 | g.32339197G>A | CA483438402 | BRCA2 | c.4842G>A (p.Lys1614=) c.4473G>A (p.Lys1491=) n.4842G>A | ClinVar dbSNP |
| 13 | g.32339197G>C | CA387783355 | BRCA2 | c.4842G>C (p.Lys1614Asn) c.4473G>C (p.Lys1491Asn) n.4842G>C | dbSNP |
| 13 | g.32339197G>T | CA387783357 | BRCA2 | c.4842G>T (p.Lys1614Asn) c.4473G>T (p.Lys1491Asn) n.4842G>T | dbSNP |
| 13 | g.32339197_32339199delinsGCT | CA2082816332 | BRCA2 | c.4842_4844delinsGCT (p.Lys1614=) c.4473_4475delinsGCT (p.Lys1491=) n.4842_4844delinsGCT | |
| 13 | g.32339198C>A | CA387783359 | BRCA2 | c.4843C>A (p.Leu1615Ile) c.4474C>A (p.Leu1492Ile) n.4843C>A | dbSNP |
| 13 | g.32339198C>G | CA387783361 | BRCA2 | c.4843C>G (p.Leu1615Val) c.4474C>G (p.Leu1492Val) n.4843C>G | dbSNP |
| 13 | g.32339198C>T | CA387783362 | BRCA2 | c.4843C>T (p.Leu1615Phe) c.4474C>T (p.Leu1492Phe) n.4843C>T | dbSNP |
| 13 | g.32339200_32339201del | CA020899 | BRCA2 | c.4845_4846del (p.Leu1616LysfsTer2) c.4476_4477del (p.Leu1493LysfsTer2) n.4845_4846del | ClinVar dbSNP |
| 13 | g.32339199del | CA913188604 | BRCA2 | c.4844del (p.Leu1615ProfsTer2) c.4475del (p.Leu1492ProfsTer2) n.4844del | ClinVar |
| 13 | g.32339199T>A | CA387783364 | BRCA2 | c.4844T>A (p.Leu1615His) c.4475T>A (p.Leu1492His) n.4844T>A | dbSNP |
| 13 | g.32339199T>C | CA387783366 | BRCA2 | c.4844T>C (p.Leu1615Pro) c.4475T>C (p.Leu1492Pro) n.4844T>C | ClinVar |
| 13 | g.32339199T>G | CA387783368 | BRCA2 | c.4844T>G (p.Leu1615Arg) c.4475T>G (p.Leu1492Arg) n.4844T>G | |
| 13 | g.32339200C>A | CA483438403 | BRCA2 | c.4845C>A (p.Leu1615=) c.4476C>A (p.Leu1492=) n.4845C>A | dbSNP |
| 13 | g.32339200C= | CA2082816338 | BRCA2 | c.4845C= (p.Leu1615=) c.4476C= (p.Leu1492=) n.4845C= | |
| 13 | g.32339200C>G | CA483438404 | BRCA2 | c.4845C>G (p.Leu1615=) c.4476C>G (p.Leu1492=) n.4845C>G | ClinVar dbSNP |
| 13 | g.32339200C>T | CA10579636 | BRCA2 | c.4845C>T (p.Leu1615=) c.4476C>T (p.Leu1492=) n.4845C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339201T>A | CA387783370 | BRCA2 | c.4846T>A (p.Leu1616Ile) c.4477T>A (p.Leu1493Ile) n.4846T>A | dbSNP |
| 13 | g.32339201T>C | CA483438405 | BRCA2 | c.4846T>C (p.Leu1616=) c.4477T>C (p.Leu1493=) n.4846T>C | dbSNP |
| 13 | g.32339201T>G | CA387783371 | BRCA2 | c.4846T>G (p.Leu1616Val) c.4477T>G (p.Leu1493Val) n.4846T>G | dbSNP |
| 13 | g.32339201_32339205delinsTTAAG | CA2082816342 | BRCA2 | c.4846_4850delinsTTAAG (p.Leu1616=) c.4477_4481delinsTTAAG (p.Leu1493=) n.4846_4850delinsTTAAG | |
| 13 | g.32339202T>A | CA387783372 | BRCA2 | c.4847T>A (p.Leu1616Ter) c.4478T>A (p.Leu1493Ter) n.4847T>A | dbSNP |
| 13 | g.32339202T>C | CA387783374 | BRCA2 | c.4847T>C (p.Leu1616Ser) c.4478T>C (p.Leu1493Ser) n.4847T>C | ClinVar dbSNP |
| 13 | g.32339202T>G | CA020903 | BRCA2 | c.4847T>G (p.Leu1616Ter) c.4478T>G (p.Leu1493Ter) n.4847T>G | ClinVar dbSNP |
| 13 | g.32339202T= | CA2082816350 | BRCA2 | c.4847T= (p.Leu1616=) c.4478T= (p.Leu1493=) n.4847T= | |
| 13 | g.32339202_32339204delinsTAA | CA2082816349 | BRCA2 | c.4847_4849delinsTAA (p.Leu1616=) c.4478_4480delinsTAA (p.Leu1493=) n.4847_4849delinsTAA | |
| 13 | g.32339203_32339206del | CA645372964 | BRCA2 | c.4848_4851del (p.Ser1617IlefsTer18) c.4479_4482del (p.Ser1494IlefsTer18) n.4848_4851del | ClinVar dbSNP |
| 13 | g.32339203A= | CA2082816360 | BRCA2 | c.4848A= (p.Leu1616=) c.4479A= (p.Leu1493=) n.4848A= | |
| 13 | g.32339203A>C | CA247508534 | BRCA2 | c.4848A>C (p.Leu1616Phe) c.4479A>C (p.Leu1493Phe) n.4848A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339203A>G | CA10579637 | BRCA2 | c.4848A>G (p.Leu1616=) c.4479A>G (p.Leu1493=) n.4848A>G | ClinVar dbSNP |
| 13 | g.32339203A>T | CA387783378 | BRCA2 | c.4848A>T (p.Leu1616Phe) c.4479A>T (p.Leu1493Phe) n.4848A>T | dbSNP |
| 13 | g.32339203_32339204del | CA020906 | BRCA2 | c.4848_4849del (p.Ser1617Ter) c.4479_4480del (p.Ser1494Ter) n.4848_4849del | ClinVar dbSNP |
| 13 | g.32339204A= | CA2082816367 | BRCA2 | c.4849A= (p.Ser1617=) c.4480A= (p.Ser1494=) n.4849A= | |
| 13 | g.32339204A>C | CA020909 | BRCA2 | c.4849A>C (p.Ser1617Arg) c.4480A>C (p.Ser1494Arg) n.4849A>C | ClinVar dbSNP |
| 13 | g.32339204A>G | CA387783381 | BRCA2 | c.4849A>G (p.Ser1617Gly) c.4480A>G (p.Ser1494Gly) n.4849A>G | ClinVar dbSNP |
| 13 | g.32339204A>T | CA387783382 | BRCA2 | c.4849A>T (p.Ser1617Cys) c.4480A>T (p.Ser1494Cys) n.4849A>T | dbSNP |
| 13 | g.32339205G>A | CA020915 | BRCA2 | c.4850G>A (p.Ser1617Asn) c.4481G>A (p.Ser1494Asn) n.4850G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339205G>C | CA387783384 | BRCA2 | c.4850G>C (p.Ser1617Thr) c.4481G>C (p.Ser1494Thr) n.4850G>C | |
| 13 | g.32339205G= | CA2082816377 | BRCA2 | c.4850G= (p.Ser1617=) c.4481G= (p.Ser1494=) n.4850G= | |
| 13 | g.32339205G>T | CA387783386 | BRCA2 | c.4850G>T (p.Ser1617Ile) c.4481G>T (p.Ser1494Ile) n.4850G>T | ClinVar dbSNP |
| 13 | g.32339206T>A | CA387783389 | BRCA2 | c.4851T>A (p.Ser1617Arg) c.4482T>A (p.Ser1494Arg) n.4851T>A | dbSNP |
| 13 | g.32339206T>C | CA483438410 | BRCA2 | c.4851T>C (p.Ser1617=) c.4482T>C (p.Ser1494=) n.4851T>C | |
| 13 | g.32339206T>G | CA387783388 | BRCA2 | c.4851T>G (p.Ser1617Arg) c.4482T>G (p.Ser1494Arg) n.4851T>G | |
| 13 | g.32339207G>A | CA387783390 | BRCA2 | c.4852G>A (p.Asp1618Asn) c.4483G>A (p.Asp1495Asn) n.4852G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339207G>C | CA387783393 | BRCA2 | c.4852G>C (p.Asp1618His) c.4483G>C (p.Asp1495His) n.4852G>C | dbSNP |
| 13 | g.32339207G= | CA2082816386 | BRCA2 | c.4852G= (p.Asp1618=) c.4483G= (p.Asp1495=) n.4852G= | |
| 13 | g.32339207G>T | CA387783392 | BRCA2 | c.4852G>T (p.Asp1618Tyr) c.4483G>T (p.Asp1495Tyr) n.4852G>T | dbSNP |
| 13 | g.32339207_32339208delinsGA | CA2082816385 | BRCA2 | c.4852_4853delinsGA (p.Asp1618=) c.4483_4484delinsGA (p.Asp1495=) n.4852_4853delinsGA | |
| 13 | g.32339208A= | CA2082816397 | BRCA2 | c.4853A= (p.Asp1618=) c.4484A= (p.Asp1495=) n.4853A= | |
| 13 | g.32339208A>C | CA387783395 | BRCA2 | c.4853A>C (p.Asp1618Ala) c.4484A>C (p.Asp1495Ala) n.4853A>C | |
| 13 | g.32339208A>G | CA387783397 | BRCA2 | c.4853A>G (p.Asp1618Gly) c.4484A>G (p.Asp1495Gly) n.4853A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339208A>T | CA387783398 | BRCA2 | c.4853A>T (p.Asp1618Val) c.4484A>T (p.Asp1495Val) n.4853A>T | dbSNP |
| 13 | g.32339208delinsGCTCT | CA10589275 | BRCA2 | c.4853delinsGCTCT (p.Asp1618GlyfsTer3) c.4484delinsGCTCT (p.Asp1495GlyfsTer3) n.4853delinsGCTCT | ClinVar dbSNP |
| 13 | g.32339209T>A | CA020918 | BRCA2 | c.4854T>A (p.Asp1618Glu) c.4485T>A (p.Asp1495Glu) n.4854T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339209T>C | CA483438414 | BRCA2 | c.4854T>C (p.Asp1618=) c.4485T>C (p.Asp1495=) n.4854T>C | |
| 13 | g.32339209T>G | CA387783401 | BRCA2 | c.4854T>G (p.Asp1618Glu) c.4485T>G (p.Asp1495Glu) n.4854T>G | |
| 13 | g.32339209T= | CA2082816404 | BRCA2 | c.4854T= (p.Asp1618=) c.4485T= (p.Asp1495=) n.4854T= | |
| 13 | g.32339210A>C | CA387783402 | BRCA2 | c.4855A>C (p.Asn1619His) c.4486A>C (p.Asn1496His) n.4855A>C | |
| 13 | g.32339210A>G | CA387783404 | BRCA2 | c.4855A>G (p.Asn1619Asp) c.4486A>G (p.Asn1496Asp) n.4855A>G | COSMIC COSMIC |
| 13 | g.32339210A>T | CA387783406 | BRCA2 | c.4855A>T (p.Asn1619Tyr) c.4486A>T (p.Asn1496Tyr) n.4855A>T | dbSNP |
| 13 | g.32339211del | CA2580087314 | BRCA2 | c.4856del (p.Asn1619IlefsTer17) c.4487del (p.Asn1496IlefsTer17) n.4856del | ClinVar |
| 13 | g.32339210_32339214delinsAATTT | CA2082816410 | BRCA2 | c.4855_4859delinsAATTT (p.Asn1619=) c.4486_4490delinsAATTT (p.Asn1496=) n.4855_4859delinsAATTT | |
| 13 | g.32339212_32339225del | CA2580087315 | BRCA2 | c.4857_4870del (p.Leu1620Ter) c.4488_4501del (p.Leu1497Ter) n.4857_4870del | ClinVar |
| 13 | g.32339211A= | CA2082816418 | BRCA2 | c.4856A= (p.Asn1619=) c.4487A= (p.Asn1496=) n.4856A= | |
| 13 | g.32339211A>C | CA387783408 | BRCA2 | c.4856A>C (p.Asn1619Thr) c.4487A>C (p.Asn1496Thr) n.4856A>C | |
| 13 | g.32339211A>G | CA020922 | BRCA2 | c.4856A>G (p.Asn1619Ser) c.4487A>G (p.Asn1496Ser) n.4856A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339211A>T | CA387783409 | BRCA2 | c.4856A>T (p.Asn1619Ile) c.4487A>T (p.Asn1496Ile) n.4856A>T | ClinVar dbSNP |
| 13 | g.32339213_32339216del | CA915948474 | BRCA2 | c.4858_4861del (p.Leu1620ValfsTer15) c.4489_4492del (p.Leu1497ValfsTer15) n.4858_4861del | ClinVar dbSNP |
| 13 | g.32339212T>A | CA387783411 | BRCA2 | c.4857T>A (p.Asn1619Lys) c.4488T>A (p.Asn1496Lys) n.4857T>A | dbSNP |
| 13 | g.32339212T>C | CA483438418 | BRCA2 | c.4857T>C (p.Asn1619=) c.4488T>C (p.Asn1496=) n.4857T>C | dbSNP |
| 13 | g.32339212T>G | CA387783413 | BRCA2 | c.4857T>G (p.Asn1619Lys) c.4488T>G (p.Asn1496Lys) n.4857T>G | dbSNP |
| 13 | g.32339212T= | CA2082816433 | BRCA2 | c.4857T= (p.Asn1619=) c.4488T= (p.Asn1496=) n.4857T= | |
| 13 | g.32339214del | CA1139770828 | BRCA2 | c.4859del (p.Leu1620TyrfsTer16) c.4490del (p.Leu1497TyrfsTer16) n.4859del | |
| 13 | g.32339212_32339232delinsTTTATGTAGACAAACTGAAAA | CA2082816435 | BRCA2 | c.4857_4877delinsTTTATGTAGACAAACTGAAAA (p.Asn1619=) c.4488_4508delinsTTTATGTAGACAAACTGAAAA (p.Asn1496=) n.4857_4877delinsTTTATGTAGACAAACTGAAAA | |
| 13 | g.32339213T>A | CA387783415 | BRCA2 | c.4858T>A (p.Leu1620Ile) c.4489T>A (p.Leu1497Ile) n.4858T>A | dbSNP |
| 13 | g.32339213T>C | CA020926 | BRCA2 | c.4858T>C (p.Leu1620=) c.4489T>C (p.Leu1497=) n.4858T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339213T>G | CA387783416 | BRCA2 | c.4858T>G (p.Leu1620Val) c.4489T>G (p.Leu1497Val) n.4858T>G | ClinVar dbSNP |
| 13 | g.32339213T= | CA2082816444 | BRCA2 | c.4858T= (p.Leu1620=) c.4489T= (p.Leu1497=) n.4858T= | |
| 13 | g.32339214_32339233del | CA913188605 | BRCA2 | c.4859_4878del (p.Leu1620SerfsTer12) c.4490_4509del (p.Leu1497SerfsTer12) n.4859_4878del | ClinVar dbSNP |
| 13 | g.32339214T>A | CA387783418 | BRCA2 | c.4859T>A (p.Leu1620Ter) c.4490T>A (p.Leu1497Ter) n.4859T>A | dbSNP |
| 13 | g.32339214T>C | CA387783420 | BRCA2 | c.4859T>C (p.Leu1620Ser) c.4490T>C (p.Leu1497Ser) n.4859T>C | gnomAD v4 |
| 13 | g.32339214T>G | CA020929 | BRCA2 | c.4859T>G (p.Leu1620Ter) c.4490T>G (p.Leu1497Ter) n.4859T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339214T= | CA2082816448 | BRCA2 | c.4859T= (p.Leu1620=) c.4490T= (p.Leu1497=) n.4859T= | |
| 13 | g.32339215A= | CA2082816455 | BRCA2 | c.4860A= (p.Leu1620=) c.4491A= (p.Leu1497=) n.4860A= | |
| 13 | g.32339215A>C | CA247508576 | BRCA2 | c.4860A>C (p.Leu1620Phe) c.4491A>C (p.Leu1497Phe) n.4860A>C | dbSNP |
| 13 | g.32339215A>G | CA483438420 | BRCA2 | c.4860A>G (p.Leu1620=) c.4491A>G (p.Leu1497=) n.4860A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339215A>T | CA387783422 | BRCA2 | c.4860A>T (p.Leu1620Phe) c.4491A>T (p.Leu1497Phe) n.4860A>T | dbSNP |
| 13 | g.32339216del | CA2622599727 | BRCA2 | c.4861del (p.Cys1621ValfsTer15) c.4492del (p.Cys1498ValfsTer15) n.4861del | gnomAD v4 |
| 13 | g.32339216T>A | CA387783424 | BRCA2 | c.4861T>A (p.Cys1621Ser) c.4492T>A (p.Cys1498Ser) n.4861T>A | dbSNP |
| 13 | g.32339216T>C | CA387783425 | BRCA2 | c.4861T>C (p.Cys1621Arg) c.4492T>C (p.Cys1498Arg) n.4861T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339216T>G | CA16613886 | BRCA2 | c.4861T>G (p.Cys1621Gly) c.4492T>G (p.Cys1498Gly) n.4861T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339216T= | CA2082816462 | BRCA2 | c.4861T= (p.Cys1621=) c.4492T= (p.Cys1498=) n.4861T= | |
| 13 | g.32339217G>A | CA387783428 | BRCA2 | c.4862G>A (p.Cys1621Tyr) c.4493G>A (p.Cys1498Tyr) n.4862G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339217G>C | CA387783430 | BRCA2 | c.4862G>C (p.Cys1621Ser) c.4493G>C (p.Cys1498Ser) n.4862G>C | dbSNP |
| 13 | g.32339217G= | CA2082816469 | BRCA2 | c.4862G= (p.Cys1621=) c.4493G= (p.Cys1498=) n.4862G= | |
| 13 | g.32339217G>T | CA020932 | BRCA2 | c.4862G>T (p.Cys1621Phe) c.4493G>T (p.Cys1498Phe) n.4862G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339218T>A | CA387783431 | BRCA2 | c.4863T>A (p.Cys1621Ter) c.4494T>A (p.Cys1498Ter) n.4863T>A | dbSNP |
| 13 | g.32339218T>C | CA483438422 | BRCA2 | c.4863T>C (p.Cys1621=) c.4494T>C (p.Cys1498=) n.4863T>C | ClinVar dbSNP |
| 13 | g.32339218T>G | CA387783432 | BRCA2 | c.4863T>G (p.Cys1621Trp) c.4494T>G (p.Cys1498Trp) n.4863T>G | |
| 13 | g.32339219A>C | CA483438423 | BRCA2 | c.4864A>C (p.Arg1622=) c.4495A>C (p.Arg1499=) n.4864A>C | |
| 13 | g.32339219A>G | CA387783434 | BRCA2 | c.4864A>G (p.Arg1622Gly) c.4495A>G (p.Arg1499Gly) n.4864A>G | dbSNP |
| 13 | g.32339219A>T | CA387783436 | BRCA2 | c.4864A>T (p.Arg1622Ter) c.4495A>T (p.Arg1499Ter) n.4864A>T | dbSNP |
| 13 | g.32339220G>A | CA387783438 | BRCA2 | c.4865G>A (p.Arg1622Lys) c.4496G>A (p.Arg1499Lys) n.4865G>A | dbSNP |
| 13 | g.32339220G>C | CA350255 | BRCA2 | c.4865G>C (p.Arg1622Thr) c.4496G>C (p.Arg1499Thr) n.4865G>C | ClinVar dbSNP |
| 13 | g.32339220G= | CA2082816477 | BRCA2 | c.4865G= (p.Arg1622=) c.4496G= (p.Arg1499=) n.4865G= | |
| 13 | g.32339220G>T | CA387783439 | BRCA2 | c.4865G>T (p.Arg1622Ile) c.4496G>T (p.Arg1499Ile) n.4865G>T | ClinVar dbSNP |
| 13 | g.32339221A>C | CA387783441 | BRCA2 | c.4866A>C (p.Arg1622Ser) c.4497A>C (p.Arg1499Ser) n.4866A>C | |
| 13 | g.32339221A>G | CA483438427 | BRCA2 | c.4866A>G (p.Arg1622=) c.4497A>G (p.Arg1499=) n.4866A>G | ClinVar |
| 13 | g.32339221A>T | CA387783442 | BRCA2 | c.4866A>T (p.Arg1622Ser) c.4497A>T (p.Arg1499Ser) n.4866A>T | dbSNP |
| 13 | g.32339222C>A | CA387783444 | BRCA2 | c.4867C>A (p.Gln1623Lys) c.4498C>A (p.Gln1500Lys) n.4867C>A | dbSNP |
| 13 | g.32339222C>G | CA387783446 | BRCA2 | c.4867C>G (p.Gln1623Glu) c.4498C>G (p.Gln1500Glu) n.4867C>G | ClinVar dbSNP |
| 13 | g.32339222C>T | CA387783447 | BRCA2 | c.4867C>T (p.Gln1623Ter) c.4498C>T (p.Gln1500Ter) n.4867C>T | ClinVar dbSNP |
| 13 | g.32339222_32339228delinsCAAACTG | CA2082816485 | BRCA2 | c.4867_4873delinsCAAACTG (p.Gln1623=) c.4498_4504delinsCAAACTG (p.Gln1500=) n.4867_4873delinsCAAACTG | |
| 13 | g.32339223A= | CA2082816493 | BRCA2 | c.4868A= (p.Gln1623=) c.4499A= (p.Gln1500=) n.4868A= | |
| 13 | g.32339223A>C | CA387783450 | BRCA2 | c.4868A>C (p.Gln1623Pro) c.4499A>C (p.Gln1500Pro) n.4868A>C | ClinVar dbSNP |
| 13 | g.32339223A>G | CA247508586 | BRCA2 | c.4868A>G (p.Gln1623Arg) c.4499A>G (p.Gln1500Arg) n.4868A>G | dbSNP |
| 13 | g.32339223A>T | CA387783449 | BRCA2 | c.4868A>T (p.Gln1623Leu) c.4499A>T (p.Gln1500Leu) n.4868A>T | dbSNP |
| 13 | g.32339226_32339231del | CA658656363 | BRCA2 | c.4871_4876del (p.Thr1624_Glu1625del) c.4502_4507del (p.Thr1501_Glu1502del) n.4871_4876del | ClinVar dbSNP |
| 13 | g.32339224A= | CA2082816513 | BRCA2 | c.4869A= (p.Gln1623=) c.4500A= (p.Gln1500=) n.4869A= | |
| 13 | g.32339224A>C | CA387783452 | BRCA2 | c.4869A>C (p.Gln1623His) c.4500A>C (p.Gln1500His) n.4869A>C | |
| 13 | g.32339224A>G | CA483438429 | BRCA2 | c.4869A>G (p.Gln1623=) c.4500A>G (p.Gln1500=) n.4869A>G | ClinVar dbSNP |
| 13 | g.32339224A>T | CA387783454 | BRCA2 | c.4869A>T (p.Gln1623His) c.4500A>T (p.Gln1500His) n.4869A>T | dbSNP |
| 13 | g.32339225A>C | CA387783456 | BRCA2 | c.4870A>C (p.Thr1624Pro) c.4501A>C (p.Thr1501Pro) n.4870A>C | |
| 13 | g.32339225A>G | CA387783457 | BRCA2 | c.4870A>G (p.Thr1624Ala) c.4501A>G (p.Thr1501Ala) n.4870A>G | dbSNP |
| 13 | g.32339225A>T | CA387783459 | BRCA2 | c.4870A>T (p.Thr1624Ser) c.4501A>T (p.Thr1501Ser) n.4870A>T | dbSNP |
| 13 | g.32339226C>A | CA387783463 | BRCA2 | c.4871C>A (p.Thr1624Asn) c.4502C>A (p.Thr1501Asn) n.4871C>A | dbSNP |
| 13 | g.32339226C= | CA2082816519 | BRCA2 | c.4871C= (p.Thr1624=) c.4502C= (p.Thr1501=) n.4871C= | |
| 13 | g.32339226C>G | CA6940822 | BRCA2 | c.4871C>G (p.Thr1624Ser) c.4502C>G (p.Thr1501Ser) n.4871C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339226C>T | CA387783461 | BRCA2 | c.4871C>T (p.Thr1624Ile) c.4502C>T (p.Thr1501Ile) n.4871C>T | dbSNP |
| 13 | g.32339227T>A | CA483438432 | BRCA2 | c.4872T>A (p.Thr1624=) c.4503T>A (p.Thr1501=) n.4872T>A | dbSNP |
| 13 | g.32339227T>C | CA483438433 | BRCA2 | c.4872T>C (p.Thr1624=) c.4503T>C (p.Thr1501=) n.4872T>C | dbSNP |
| 13 | g.32339227T>G | CA483438434 | BRCA2 | c.4872T>G (p.Thr1624=) c.4503T>G (p.Thr1501=) n.4872T>G | |
| 13 | g.32339227_32339228del | CA2499222181 | BRCA2 | c.4872_4873del (p.Glu1625LysfsTer13) c.4503_4504del (p.Glu1502LysfsTer13) n.4872_4873del | ClinVar |
| 13 | g.32339228G>A | CA020938 | BRCA2 | c.4873G>A (p.Glu1625Lys) c.4504G>A (p.Glu1502Lys) n.4873G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339228G>C | CA387783464 | BRCA2 | c.4873G>C (p.Glu1625Gln) c.4504G>C (p.Glu1502Gln) n.4873G>C | |
| 13 | g.32339228G= | CA2082816530 | BRCA2 | c.4873G= (p.Glu1625=) c.4504G= (p.Glu1502=) n.4873G= | |
| 13 | g.32339228G>T | CA387783466 | BRCA2 | c.4873G>T (p.Glu1625Ter) c.4504G>T (p.Glu1502Ter) n.4873G>T | |
| 13 | g.32339228_32339230delinsGAA | CA2082816527 | BRCA2 | c.4873_4875delinsGAA (p.Glu1625=) c.4504_4506delinsGAA (p.Glu1502=) n.4873_4875delinsGAA | |
| 13 | g.32339229A= | CA2082816546 | BRCA2 | c.4874A= (p.Glu1625=) c.4505A= (p.Glu1502=) n.4874A= | |
| 13 | g.32339229A>C | CA387783468 | BRCA2 | c.4874A>C (p.Glu1625Ala) c.4505A>C (p.Glu1502Ala) n.4874A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339229A>G | CA387783469 | BRCA2 | c.4874A>G (p.Glu1625Gly) c.4505A>G (p.Glu1502Gly) n.4874A>G | |
| 13 | g.32339229A>T | CA387783470 | BRCA2 | c.4874A>T (p.Glu1625Val) c.4505A>T (p.Glu1502Val) n.4874A>T | dbSNP |
| 13 | g.32339232dup | CA16614152 | BRCA2 | c.4877dup (p.Asn1626LysfsTer13) c.4508dup (p.Asn1503LysfsTer13) n.4877dup | ClinVar dbSNP |
| 13 | g.32339231_32339232del | CA020941 | BRCA2 | c.4876_4877del (p.Asn1626SerfsTer12) c.4507_4508del (p.Asn1503SerfsTer12) n.4876_4877del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339229_32339230insC | CA919242651 | BRCA2 | c.4874_4875insC (p.Glu1625AspfsTer14) c.4505_4506insC (p.Glu1502AspfsTer14) n.4874_4875insC | dbSNP |
| 13 | g.32339230A>C | CA387783474 | BRCA2 | c.4875A>C (p.Glu1625Asp) c.4506A>C (p.Glu1502Asp) n.4875A>C | |
| 13 | g.32339230A>G | CA483438437 | BRCA2 | c.4875A>G (p.Glu1625=) c.4506A>G (p.Glu1502=) n.4875A>G | |
| 13 | g.32339230A>T | CA387783473 | BRCA2 | c.4875A>T (p.Glu1625Asp) c.4506A>T (p.Glu1502Asp) n.4875A>T | dbSNP |
| 13 | g.32339231A= | CA2082816558 | BRCA2 | c.4876A= (p.Asn1626=) c.4507A= (p.Asn1503=) n.4876A= | |
| 13 | g.32339231A>C | CA387783477 | BRCA2 | c.4876A>C (p.Asn1626His) c.4507A>C (p.Asn1503His) n.4876A>C | ClinVar dbSNP |
| 13 | g.32339231A>G | CA387783476 | BRCA2 | c.4876A>G (p.Asn1626Asp) c.4507A>G (p.Asn1503Asp) n.4876A>G | |
| 13 | g.32339231A>T | CA387783479 | BRCA2 | c.4876A>T (p.Asn1626Tyr) c.4507A>T (p.Asn1503Tyr) n.4876A>T | dbSNP |
| 13 | g.32339232A>C | CA387783480 | BRCA2 | c.4877A>C (p.Asn1626Thr) c.4508A>C (p.Asn1503Thr) n.4877A>C | |
| 13 | g.32339232A>G | CA387783482 | BRCA2 | c.4877A>G (p.Asn1626Ser) c.4508A>G (p.Asn1503Ser) n.4877A>G | dbSNP gnomAD v4 |
| 13 | g.32339232A>T | CA387783481 | BRCA2 | c.4877A>T (p.Asn1626Ile) c.4508A>T (p.Asn1503Ile) n.4877A>T | dbSNP |
| 13 | g.32339233T>A | CA387783484 | BRCA2 | c.4878T>A (p.Asn1626Lys) c.4509T>A (p.Asn1503Lys) n.4878T>A | dbSNP gnomAD v4 |
| 13 | g.32339233T>C | CA483438438 | BRCA2 | c.4878T>C (p.Asn1626=) c.4509T>C (p.Asn1503=) n.4878T>C | ClinVar dbSNP |
| 13 | g.32339233T>G | CA387783485 | BRCA2 | c.4878T>G (p.Asn1626Lys) c.4509T>G (p.Asn1503Lys) n.4878T>G | dbSNP |
| 13 | g.32339233T= | CA2082816568 | BRCA2 | c.4878T= (p.Asn1626=) c.4509T= (p.Asn1503=) n.4878T= | |
| 13 | g.32339234C>A | CA387783487 | BRCA2 | c.4879C>A (p.Leu1627Ile) c.4510C>A (p.Leu1504Ile) n.4879C>A | ClinVar dbSNP |
| 13 | g.32339234C>G | CA387783488 | BRCA2 | c.4879C>G (p.Leu1627Val) c.4510C>G (p.Leu1504Val) n.4879C>G | dbSNP gnomAD v4 |
| 13 | g.32339234C>T | CA387783489 | BRCA2 | c.4879C>T (p.Leu1627Phe) c.4510C>T (p.Leu1504Phe) n.4879C>T | dbSNP |
| 13 | g.32339235T>A | CA387783490 | BRCA2 | c.4880T>A (p.Leu1627His) c.4511T>A (p.Leu1504His) n.4880T>A | dbSNP |
| 13 | g.32339235T>C | CA387783491 | BRCA2 | c.4880T>C (p.Leu1627Pro) c.4511T>C (p.Leu1504Pro) n.4880T>C | ClinVar dbSNP |
| 13 | g.32339235T>G | CA387783492 | BRCA2 | c.4880T>G (p.Leu1627Arg) c.4511T>G (p.Leu1504Arg) n.4880T>G | |
| 13 | g.32339236C>A | CA483438439 | BRCA2 | c.4881C>A (p.Leu1627=) c.4512C>A (p.Leu1504=) n.4881C>A | dbSNP |
| 13 | g.32339236C= | CA2082816576 | BRCA2 | c.4881C= (p.Leu1627=) c.4512C= (p.Leu1504=) n.4881C= | |
| 13 | g.32339236C>G | CA020944 | BRCA2 | c.4881C>G (p.Leu1627=) c.4512C>G (p.Leu1504=) n.4881C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339236C>T | CA483438440 | BRCA2 | c.4881C>T (p.Leu1627=) c.4512C>T (p.Leu1504=) n.4881C>T | dbSNP |
| 13 | g.32339236_32339238delinsCAA | CA2082816579 | BRCA2 | c.4881_4883delinsCAA (p.Leu1627=) c.4512_4514delinsCAA (p.Leu1504=) n.4881_4883delinsCAA | |
| 13 | g.32339236_32339248delinsCAAAACATCAAAA | CA2082816578 | BRCA2 | c.4881_4893delinsCAAAACATCAAAA (p.Leu1627=) c.4512_4524delinsCAAAACATCAAAA (p.Leu1504=) n.4881_4893delinsCAAAACATCAAAA | |
| 13 | g.32339237A= | CA2082816595 | BRCA2 | c.4882A= (p.Lys1628=) c.4513A= (p.Lys1505=) n.4882A= | |
| 13 | g.32339237A>C | CA387783493 | BRCA2 | c.4882A>C (p.Lys1628Gln) c.4513A>C (p.Lys1505Gln) n.4882A>C | |
| 13 | g.32339237A>G | CA387783494 | BRCA2 | c.4882A>G (p.Lys1628Glu) c.4513A>G (p.Lys1505Glu) n.4882A>G | ClinVar dbSNP |
| 13 | g.32339237A>T | CA387783496 | BRCA2 | c.4882A>T (p.Lys1628Ter) c.4513A>T (p.Lys1505Ter) n.4882A>T | dbSNP |
| 13 | g.32339239_32339240del | CA658656364 | BRCA2 | c.4884_4885del (p.Lys1628AsnfsTer10) c.4515_4516del (p.Lys1505AsnfsTer10) n.4884_4885del | ClinVar dbSNP |
| 13 | g.32339238_32339249del | CA658656365 | BRCA2 | c.4883_4894del (p.Lys1628_Lys1631del) c.4514_4525del (p.Lys1505_Lys1508del) n.4883_4894del | ClinVar dbSNP |
| 13 | g.32339238A= | CA2082816597 | BRCA2 | c.4883A= (p.Lys1628=) c.4514A= (p.Lys1505=) n.4883A= | |
| 13 | g.32339238A>C | CA387783500 | BRCA2 | c.4883A>C (p.Lys1628Thr) c.4514A>C (p.Lys1505Thr) n.4883A>C | |
| 13 | g.32339238A>G | CA387783499 | BRCA2 | c.4883A>G (p.Lys1628Arg) c.4514A>G (p.Lys1505Arg) n.4883A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339238A>T | CA387783498 | BRCA2 | c.4883A>T (p.Lys1628Ile) c.4514A>T (p.Lys1505Ile) n.4883A>T | dbSNP |
| 13 | g.32339243_32339296del | CA2697551768 | BRCA2 | c.4888_4941del (p.Ser1630_Thr1647del) c.4519_4572del (p.Ser1507_Thr1524del) n.4888_4941del | ClinVar |
| 13 | g.32339239A= | CA2082816753 | BRCA2 | c.4884A= (p.Lys1628=) c.4515A= (p.Lys1505=) n.4884A= | |
| 13 | g.32339239A>C | CA387783502 | BRCA2 | c.4884A>C (p.Lys1628Asn) c.4515A>C (p.Lys1505Asn) n.4884A>C | |
| 13 | g.32339239A>G | CA483438442 | BRCA2 | c.4884A>G (p.Lys1628=) c.4515A>G (p.Lys1505=) n.4884A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339239A>T | CA387783504 | BRCA2 | c.4884A>T (p.Lys1628Asn) c.4515A>T (p.Lys1505Asn) n.4884A>T | ClinVar dbSNP |
| 13 | g.32339240A= | CA2082816765 | BRCA2 | c.4885A= (p.Thr1629=) c.4516A= (p.Thr1506=) n.4885A= | |
| 13 | g.32339240A>C | CA387783505 | BRCA2 | c.4885A>C (p.Thr1629Pro) c.4516A>C (p.Thr1506Pro) n.4885A>C | ClinVar dbSNP |
| 13 | g.32339240A>G | CA10586071 | BRCA2 | c.4885A>G (p.Thr1629Ala) c.4516A>G (p.Thr1506Ala) n.4885A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32339240A>T | CA387783507 | BRCA2 | c.4885A>T (p.Thr1629Ser) c.4516A>T (p.Thr1506Ser) n.4885A>T | ClinVar dbSNP |
| 13 | g.32339241C>A | CA387783510 | BRCA2 | c.4886C>A (p.Thr1629Lys) c.4517C>A (p.Thr1506Lys) n.4886C>A | dbSNP |
| 13 | g.32339241C= | CA2082816774 | BRCA2 | c.4886C= (p.Thr1629=) c.4517C= (p.Thr1506=) n.4886C= | |
| 13 | g.32339241C>G | CA387783511 | BRCA2 | c.4886C>G (p.Thr1629Arg) c.4517C>G (p.Thr1506Arg) n.4886C>G | dbSNP |
| 13 | g.32339241C>T | CA020949 | BRCA2 | c.4886C>T (p.Thr1629Ile) c.4517C>T (p.Thr1506Ile) n.4886C>T | ClinVar dbSNP |
| 13 | g.32339242A>C | CA483438446 | BRCA2 | c.4887A>C (p.Thr1629=) c.4518A>C (p.Thr1506=) n.4887A>C | ClinVar dbSNP |
| 13 | g.32339242A>G | CA483438447 | BRCA2 | c.4887A>G (p.Thr1629=) c.4518A>G (p.Thr1506=) n.4887A>G | |
| 13 | g.32339242A>T | CA483438448 | BRCA2 | c.4887A>T (p.Thr1629=) c.4518A>T (p.Thr1506=) n.4887A>T | dbSNP |
| 13 | g.32339243del | CA2580087316 | BRCA2 | c.4888del (p.Ser1630GlnfsTer6) c.4519del (p.Ser1507GlnfsTer6) n.4888del | ClinVar |
| 13 | g.32339243T>A | CA387783513 | BRCA2 | c.4888T>A (p.Ser1630Thr) c.4519T>A (p.Ser1507Thr) n.4888T>A | dbSNP |
| 13 | g.32339243T>C | CA387783515 | BRCA2 | c.4888T>C (p.Ser1630Pro) c.4519T>C (p.Ser1507Pro) n.4888T>C | ClinVar dbSNP |
| 13 | g.32339243T>G | CA387783517 | BRCA2 | c.4888T>G (p.Ser1630Ala) c.4519T>G (p.Ser1507Ala) n.4888T>G | dbSNP |
| 13 | g.32339243T= | CA2082816785 | BRCA2 | c.4888T= (p.Ser1630=) c.4519T= (p.Ser1507=) n.4888T= | |
| 13 | g.32339244C>A | CA020952 | BRCA2 | c.4889C>A (p.Ser1630Ter) c.4520C>A (p.Ser1507Ter) n.4889C>A | ClinVar dbSNP |
| 13 | g.32339244C= | CA2082816794 | BRCA2 | c.4889C= (p.Ser1630=) c.4520C= (p.Ser1507=) n.4889C= | |
| 13 | g.32339244C>G | CA020955 | BRCA2 | c.4889C>G (p.Ser1630Ter) c.4520C>G (p.Ser1507Ter) n.4889C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339244C>T | CA387783518 | BRCA2 | c.4889C>T (p.Ser1630Leu) c.4520C>T (p.Ser1507Leu) n.4889C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339244_32339245delinsCA | CA2082816804 | BRCA2 | c.4889_4890delinsCA (p.Ser1630=) c.4520_4521delinsCA (p.Ser1507=) n.4889_4890delinsCA | |
| 13 | g.32339245A>C | CA483438450 | BRCA2 | c.4890A>C (p.Ser1630=) c.4521A>C (p.Ser1507=) n.4890A>C | |
| 13 | g.32339245A>G | CA483438451 | BRCA2 | c.4890A>G (p.Ser1630=) c.4521A>G (p.Ser1507=) n.4890A>G | ClinVar dbSNP |
| 13 | g.32339245A>T | CA483438452 | BRCA2 | c.4890A>T (p.Ser1630=) c.4521A>T (p.Ser1507=) n.4890A>T | |
| 13 | g.32339248_32339249dup | CA2622599779 | BRCA2 | c.4893_4894dup (p.Ser1632LysfsTer5) c.4524_4525dup (p.Ser1509LysfsTer5) n.4893_4894dup | gnomAD v4 |
| 13 | g.32339249del | CA658653673 | BRCA2 | c.4894del (p.Ser1632ValfsTer4) c.4525del (p.Ser1509ValfsTer4) n.4894del | ClinVar dbSNP |
| 13 | g.32339248_32339249del | CA2573149291 | BRCA2 | c.4893_4894del (p.Ser1632TyrfsTer6) c.4524_4525del (p.Ser1509TyrfsTer6) n.4893_4894del | ClinVar dbSNP |
| 13 | g.32339246A= | CA2082816813 | BRCA2 | c.4891A= (p.Lys1631=) c.4522A= (p.Lys1508=) n.4891A= | |
| 13 | g.32339246A>C | CA387783521 | BRCA2 | c.4891A>C (p.Lys1631Gln) c.4522A>C (p.Lys1508Gln) n.4891A>C | ClinVar dbSNP |
| 13 | g.32339246A>G | CA6940823 | BRCA2 | c.4891A>G (p.Lys1631Glu) c.4522A>G (p.Lys1508Glu) n.4891A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339246A>T | CA387783523 | BRCA2 | c.4891A>T (p.Lys1631Ter) c.4522A>T (p.Lys1508Ter) n.4891A>T | dbSNP |
| 13 | g.32339247A= | CA2082816824 | BRCA2 | c.4892A= (p.Lys1631=) c.4523A= (p.Lys1508=) n.4892A= | |
| 13 | g.32339247A>C | CA387783524 | BRCA2 | c.4892A>C (p.Lys1631Thr) c.4523A>C (p.Lys1508Thr) n.4892A>C | |
| 13 | g.32339247A>G | CA387783526 | BRCA2 | c.4892A>G (p.Lys1631Arg) c.4523A>G (p.Lys1508Arg) n.4892A>G | ClinVar |
| 13 | g.32339247A>T | CA020958 | BRCA2 | c.4892A>T (p.Lys1631Ile) c.4523A>T (p.Lys1508Ile) n.4892A>T | ClinVar dbSNP |
| 13 | g.32339247_32339291delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG | CA2082816821 | BRCA2 | c.4892_4936delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG (p.Lys1631=) c.4523_4567delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG (p.Lys1508=) n.4892_4936delinsAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG | |
| 13 | g.32339248A>C | CA387783528 | BRCA2 | c.4893A>C (p.Lys1631Asn) c.4524A>C (p.Lys1508Asn) n.4893A>C | |
| 13 | g.32339248A>G | CA483438453 | BRCA2 | c.4893A>G (p.Lys1631=) c.4524A>G (p.Lys1508=) n.4893A>G | |
| 13 | g.32339248A>T | CA387783529 | BRCA2 | c.4893A>T (p.Lys1631Asn) c.4524A>T (p.Lys1508Asn) n.4893A>T | dbSNP |
| 13 | g.32339248_32339250delinsAAG | CA2082816831 | BRCA2 | c.4893_4895delinsAAG (p.Lys1631=) c.4524_4526delinsAAG (p.Lys1508=) n.4893_4895delinsAAG | |
| 13 | g.32339250_32339293del | CA913190948 | BRCA2 | c.4895_4938del (p.Ser1632AsnfsTer19) c.4526_4569del (p.Ser1509AsnfsTer19) n.4895_4938del | ClinVar dbSNP |
| 13 | g.32339249A= | CA2082816838 | BRCA2 | c.4894A= (p.Ser1632=) c.4525A= (p.Ser1509=) n.4894A= | |
| 13 | g.32339249A>C | CA020968 | BRCA2 | c.4894A>C (p.Ser1632Arg) c.4525A>C (p.Ser1509Arg) n.4894A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339249A>G | CA387783532 | BRCA2 | c.4894A>G (p.Ser1632Gly) c.4525A>G (p.Ser1509Gly) n.4894A>G | dbSNP gnomAD v4 |
| 13 | g.32339249A>T | CA387783534 | BRCA2 | c.4894A>T (p.Ser1632Cys) c.4525A>T (p.Ser1509Cys) n.4894A>T | dbSNP |
| 13 | g.32339249_32339250del | CA020961 | BRCA2 | c.4894_4895del (p.Ser1632TyrfsTer6) c.4525_4526del (p.Ser1509TyrfsTer6) n.4894_4895del | ClinVar dbSNP |
| 13 | g.32339250G>A | CA387783539 | BRCA2 | c.4895G>A (p.Ser1632Asn) c.4526G>A (p.Ser1509Asn) n.4895G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339250G>C | CA387783536 | BRCA2 | c.4895G>C (p.Ser1632Thr) c.4526G>C (p.Ser1509Thr) n.4895G>C | ClinVar dbSNP |
| 13 | g.32339250G= | CA2082816851 | BRCA2 | c.4895G= (p.Ser1632=) c.4526G= (p.Ser1509=) n.4895G= | |
| 13 | g.32339250G>T | CA387783538 | BRCA2 | c.4895G>T (p.Ser1632Ile) c.4526G>T (p.Ser1509Ile) n.4895G>T | dbSNP |
| 13 | g.32339251T>A | CA387783540 | BRCA2 | c.4896T>A (p.Ser1632Arg) c.4527T>A (p.Ser1509Arg) n.4896T>A | dbSNP |
| 13 | g.32339251T>C | CA483438455 | BRCA2 | c.4896T>C (p.Ser1632=) c.4527T>C (p.Ser1509=) n.4896T>C | ClinVar dbSNP |
| 13 | g.32339251T>G | CA387783542 | BRCA2 | c.4896T>G (p.Ser1632Arg) c.4527T>G (p.Ser1509Arg) n.4896T>G | dbSNP |
| 13 | g.32339251_32339253del | CA2528816457 | BRCA2 | c.4896_4898del (p.Ile1633del) c.4527_4529del (p.Ile1510del) n.4896_4898del | |
| 13 | g.32339252A= | CA2082816865 | BRCA2 | c.4897A= (p.Ile1633=) c.4528A= (p.Ile1510=) n.4897A= | |
| 13 | g.32339252A>C | CA387783543 | BRCA2 | c.4897A>C (p.Ile1633Leu) c.4528A>C (p.Ile1510Leu) n.4897A>C | |
| 13 | g.32339252A>G | CA020971 | BRCA2 | c.4897A>G (p.Ile1633Val) c.4528A>G (p.Ile1510Val) n.4897A>G | ClinVar dbSNP |
| 13 | g.32339252A>T | CA387783545 | BRCA2 | c.4897A>T (p.Ile1633Phe) c.4528A>T (p.Ile1510Phe) n.4897A>T | dbSNP gnomAD v4 |
| 13 | g.32339252_32339254delinsATC | CA2082816869 | BRCA2 | c.4897_4899delinsATC (p.Ile1633=) c.4528_4530delinsATC (p.Ile1510=) n.4897_4899delinsATC | |
| 13 | g.32339253T>A | CA020974 | BRCA2 | c.4898T>A (p.Ile1633Asn) c.4529T>A (p.Ile1510Asn) n.4898T>A | ClinVar dbSNP |
| 13 | g.32339253T>C | CA020977 | BRCA2 | c.4898T>C (p.Ile1633Thr) c.4529T>C (p.Ile1510Thr) n.4898T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339253T>G | CA387783548 | BRCA2 | c.4898T>G (p.Ile1633Ser) c.4529T>G (p.Ile1510Ser) n.4898T>G | |
| 13 | g.32339253T= | CA2082816883 | BRCA2 | c.4898T= (p.Ile1633=) c.4529T= (p.Ile1510=) n.4898T= | |
| 13 | g.32339254_32339255del | CA915948475 | BRCA2 | c.4899_4900del (p.Leu1635GlufsTer3) c.4530_4531del (p.Leu1512GlufsTer3) n.4899_4900del | ClinVar dbSNP |
| 13 | g.32339254_32339257del | CA2695217883 | BRCA2 | c.4899_4902del (p.Phe1634Ter) c.4530_4533del (p.Phe1511Ter) n.4899_4902del | |
| 13 | g.32339254C>A | CA483438457 | BRCA2 | c.4899C>A (p.Ile1633=) c.4530C>A (p.Ile1510=) n.4899C>A | ClinVar gnomAD v4 |
| 13 | g.32339254C= | CA2082816908 | BRCA2 | c.4899C= (p.Ile1633=) c.4530C= (p.Ile1510=) n.4899C= | |
| 13 | g.32339254C>G | CA247508612 | BRCA2 | c.4899C>G (p.Ile1633Met) c.4530C>G (p.Ile1510Met) n.4899C>G | ClinVar dbSNP |
| 13 | g.32339254C>T | CA483438456 | BRCA2 | c.4899C>T (p.Ile1633=) c.4530C>T (p.Ile1510=) n.4899C>T | ClinVar dbSNP |
| 13 | g.32339254_32339256delinsCTT | CA2082816906 | BRCA2 | c.4899_4901delinsCTT (p.Ile1633=) c.4530_4532delinsCTT (p.Ile1510=) n.4899_4901delinsCTT | |
| 13 | g.32339255T>A | CA387783551 | BRCA2 | c.4900T>A (p.Phe1634Ile) c.4531T>A (p.Phe1511Ile) n.4900T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339255T>C | CA387783553 | BRCA2 | c.4900T>C (p.Phe1634Leu) c.4531T>C (p.Phe1511Leu) n.4900T>C | ClinVar dbSNP |
| 13 | g.32339255T>G | CA387783554 | BRCA2 | c.4900T>G (p.Phe1634Val) c.4531T>G (p.Phe1511Val) n.4900T>G | ClinVar |
| 13 | g.32339255T= | CA2082816925 | BRCA2 | c.4900T= (p.Phe1634=) c.4531T= (p.Phe1511=) n.4900T= | |
| 13 | g.32339259dup | CA020987 | BRCA2 | c.4904dup (p.Leu1635PhefsTer4) c.4535dup (p.Leu1512PhefsTer4) n.4904dup | ClinVar dbSNP |
| 13 | g.32339259del | CA2580087317 | BRCA2 | c.4904del (p.Leu1635Ter) c.4535del (p.Leu1512Ter) n.4904del | ClinVar dbSNP |
| 13 | g.32339258_32339259del | CA1139663217 | BRCA2 | c.4903_4904del (p.Leu1635GlufsTer3) c.4534_4535del (p.Leu1512GlufsTer3) n.4903_4904del | ClinVar dbSNP |
| 13 | g.32339256T>A | CA387783557 | BRCA2 | c.4901T>A (p.Phe1634Tyr) c.4532T>A (p.Phe1511Tyr) n.4901T>A | dbSNP |
| 13 | g.32339256T>C | CA020983 | BRCA2 | c.4901T>C (p.Phe1634Ser) c.4532T>C (p.Phe1511Ser) n.4901T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339256T>G | CA387783556 | BRCA2 | c.4901T>G (p.Phe1634Cys) c.4532T>G (p.Phe1511Cys) n.4901T>G | |
| 13 | g.32339256T= | CA2082816948 | BRCA2 | c.4901T= (p.Phe1634=) c.4532T= (p.Phe1511=) n.4901T= | |
| 13 | g.32339257T>A | CA387783559 | BRCA2 | c.4902T>A (p.Phe1634Leu) c.4533T>A (p.Phe1511Leu) n.4902T>A | dbSNP |
| 13 | g.32339257T>C | CA483438460 | BRCA2 | c.4902T>C (p.Phe1634=) c.4533T>C (p.Phe1511=) n.4902T>C | |
| 13 | g.32339257T>G | CA387783561 | BRCA2 | c.4902T>G (p.Phe1634Leu) c.4533T>G (p.Phe1511Leu) n.4902T>G | |
| 13 | g.32339258T>A | CA387783562 | BRCA2 | c.4903T>A (p.Leu1635Met) c.4534T>A (p.Leu1512Met) n.4903T>A | dbSNP |
| 13 | g.32339258T>C | CA483438462 | BRCA2 | c.4903T>C (p.Leu1635=) c.4534T>C (p.Leu1512=) n.4903T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339258T>G | CA387783564 | BRCA2 | c.4903T>G (p.Leu1635Val) c.4534T>G (p.Leu1512Val) n.4903T>G | |
| 13 | g.32339258T= | CA2082816955 | BRCA2 | c.4903T= (p.Leu1635=) c.4534T= (p.Leu1512=) n.4903T= | |
| 13 | g.32339258_32339259insC | CA2622599805 | BRCA2 | c.4903_4904insC (p.Leu1635SerfsTer4) c.4534_4535insC (p.Leu1512SerfsTer4) n.4903_4904insC | gnomAD v4 |
| 13 | g.32339259T>A | CA10586528 | BRCA2 | c.4904T>A (p.Leu1635Ter) c.4535T>A (p.Leu1512Ter) n.4904T>A | ClinVar dbSNP |
| 13 | g.32339259T>C | CA387783567 | BRCA2 | c.4904T>C (p.Leu1635Ser) c.4535T>C (p.Leu1512Ser) n.4904T>C | ClinVar dbSNP |
| 13 | g.32339259T>G | CA387783568 | BRCA2 | c.4904T>G (p.Leu1635Trp) c.4535T>G (p.Leu1512Trp) n.4904T>G | |
| 13 | g.32339259T= | CA2082816959 | BRCA2 | c.4904T= (p.Leu1635=) c.4535T= (p.Leu1512=) n.4904T= | |
| 13 | g.32339260G>A | CA483438467 | BRCA2 | c.4905G>A (p.Leu1635=) c.4536G>A (p.Leu1512=) n.4905G>A | ClinVar dbSNP |
| 13 | g.32339260G>C | CA387783569 | BRCA2 | c.4905G>C (p.Leu1635Phe) c.4536G>C (p.Leu1512Phe) n.4905G>C | dbSNP |
| 13 | g.32339260G= | CA2082816970 | BRCA2 | c.4905G= (p.Leu1635=) c.4536G= (p.Leu1512=) n.4905G= | |
| 13 | g.32339260G>T | CA020991 | BRCA2 | c.4905G>T (p.Leu1635Phe) c.4536G>T (p.Leu1512Phe) n.4905G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339261A= | CA2082816992 | BRCA2 | c.4906A= (p.Lys1636=) c.4537A= (p.Lys1513=) n.4906A= | |
| 13 | g.32339261A>C | CA387783572 | BRCA2 | c.4906A>C (p.Lys1636Gln) c.4537A>C (p.Lys1513Gln) n.4906A>C | ClinVar dbSNP |
| 13 | g.32339261A>G | CA020993 | BRCA2 | c.4906A>G (p.Lys1636Glu) c.4537A>G (p.Lys1513Glu) n.4906A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339261A>T | CA387783574 | BRCA2 | c.4906A>T (p.Lys1636Ter) c.4537A>T (p.Lys1513Ter) n.4906A>T | dbSNP |
| 13 | g.32339262A= | CA2082817010 | BRCA2 | c.4907A= (p.Lys1636=) c.4538A= (p.Lys1513=) n.4907A= | |
| 13 | g.32339262A>C | CA387783579 | BRCA2 | c.4907A>C (p.Lys1636Thr) c.4538A>C (p.Lys1513Thr) n.4907A>C | |
| 13 | g.32339262A>G | CA387783577 | BRCA2 | c.4907A>G (p.Lys1636Arg) c.4538A>G (p.Lys1513Arg) n.4907A>G | ClinVar dbSNP |
| 13 | g.32339262A>T | CA387783576 | BRCA2 | c.4907A>T (p.Lys1636Ile) c.4538A>T (p.Lys1513Ile) n.4907A>T | |
| 13 | g.32339263A= | CA2082817017 | BRCA2 | c.4908A= (p.Lys1636=) c.4539A= (p.Lys1513=) n.4908A= | |
| 13 | g.32339263A>C | CA387783581 | BRCA2 | c.4908A>C (p.Lys1636Asn) c.4539A>C (p.Lys1513Asn) n.4908A>C | |
| 13 | g.32339263A>G | CA483438472 | BRCA2 | c.4908A>G (p.Lys1636=) c.4539A>G (p.Lys1513=) n.4908A>G | ClinVar dbSNP |
| 13 | g.32339263A>T | CA387783582 | BRCA2 | c.4908A>T (p.Lys1636Asn) c.4539A>T (p.Lys1513Asn) n.4908A>T | dbSNP |
| 13 | g.32339263_32339264delinsAG | CA2082817014 | BRCA2 | c.4908_4909delinsAG (p.Lys1636=) c.4539_4540delinsAG (p.Lys1513=) n.4908_4909delinsAG | |
| 13 | g.32339264del | CA16619716 | BRCA2 | c.4909del (p.Val1637LeufsTer7) c.4540del (p.Val1514LeufsTer7) n.4909del | ClinVar dbSNP |
| 13 | g.32339264G>A | CA387783584 | BRCA2 | c.4909G>A (p.Val1637Ile) c.4540G>A (p.Val1514Ile) n.4909G>A | dbSNP |
| 13 | g.32339264G>C | CA387783586 | BRCA2 | c.4909G>C (p.Val1637Leu) c.4540G>C (p.Val1514Leu) n.4909G>C | ClinVar |
| 13 | g.32339264G>T | CA387783587 | BRCA2 | c.4909G>T (p.Val1637Phe) c.4540G>T (p.Val1514Phe) n.4909G>T | |
| 13 | g.32339265T>A | CA387783588 | BRCA2 | c.4910T>A (p.Val1637Asp) c.4541T>A (p.Val1514Asp) n.4910T>A | dbSNP |
| 13 | g.32339265T>C | CA387783590 | BRCA2 | c.4910T>C (p.Val1637Ala) c.4541T>C (p.Val1514Ala) n.4910T>C | |
| 13 | g.32339265T>G | CA020995 | BRCA2 | c.4910T>G (p.Val1637Gly) c.4541T>G (p.Val1514Gly) n.4910T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339265T= | CA2082817026 | BRCA2 | c.4910T= (p.Val1637=) c.4541T= (p.Val1514=) n.4910T= | |
| 13 | g.32339266del | CA2580087318 | BRCA2 | c.4911del (p.Val1639TyrfsTer5) c.4542del (p.Val1516TyrfsTer5) n.4911del | ClinVar |
| 13 | g.32339265_32339266insA | CA919242662 | BRCA2 | c.4910_4911insA (p.Lys1638Ter) c.4541_4542insA (p.Lys1515Ter) n.4910_4911insA | dbSNP |
| 13 | g.32339266T>A | CA483438474 | BRCA2 | c.4911T>A (p.Val1637=) c.4542T>A (p.Val1514=) n.4911T>A | |
| 13 | g.32339266T>C | CA483438475 | BRCA2 | c.4911T>C (p.Val1637=) c.4542T>C (p.Val1514=) n.4911T>C | gnomAD v4 |
| 13 | g.32339266T>G | CA483438476 | BRCA2 | c.4911T>G (p.Val1637=) c.4542T>G (p.Val1514=) n.4911T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339266T= | CA2082817036 | BRCA2 | c.4911T= (p.Val1637=) c.4542T= (p.Val1514=) n.4911T= | |
| 13 | g.32339267A= | CA2082817051 | BRCA2 | c.4912A= (p.Lys1638=) c.4543A= (p.Lys1515=) n.4912A= | |
| 13 | g.32339267A>C | CA387783593 | BRCA2 | c.4912A>C (p.Lys1638Gln) c.4543A>C (p.Lys1515Gln) n.4912A>C | |
| 13 | g.32339267A>G | CA387783594 | BRCA2 | c.4912A>G (p.Lys1638Glu) c.4543A>G (p.Lys1515Glu) n.4912A>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.32339267A>T | CA10589276 | BRCA2 | c.4912A>T (p.Lys1638Ter) c.4543A>T (p.Lys1515Ter) n.4912A>T | ClinVar dbSNP |
| 13 | g.32339269dup | CA196801 | BRCA2 | c.4914dup (p.Val1639SerfsTer3) c.4545dup (p.Val1516SerfsTer3) n.4914dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339268A= | CA2082817065 | BRCA2 | c.4913A= (p.Lys1638=) c.4544A= (p.Lys1515=) n.4913A= | |
| 13 | g.32339268A>C | CA6940824 | BRCA2 | c.4913A>C (p.Lys1638Thr) c.4544A>C (p.Lys1515Thr) n.4913A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339268A>G | CA387783596 | BRCA2 | c.4913A>G (p.Lys1638Arg) c.4544A>G (p.Lys1515Arg) n.4913A>G | ClinVar dbSNP |
| 13 | g.32339268A>T | CA387783597 | BRCA2 | c.4913A>T (p.Lys1638Ile) c.4544A>T (p.Lys1515Ile) n.4913A>T | dbSNP |
| 13 | g.32339269A= | CA2082817077 | BRCA2 | c.4914A= (p.Lys1638=) c.4545A= (p.Lys1515=) n.4914A= | |
| 13 | g.32339269A>C | CA387783599 | BRCA2 | c.4914A>C (p.Lys1638Asn) c.4545A>C (p.Lys1515Asn) n.4914A>C | |
| 13 | g.32339269A>G | CA6940825 | BRCA2 | c.4914A>G (p.Lys1638=) c.4545A>G (p.Lys1515=) n.4914A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339269A>T | CA387783598 | BRCA2 | c.4914A>T (p.Lys1638Asn) c.4545A>T (p.Lys1515Asn) n.4914A>T | dbSNP |
| 13 | g.32339270G>A | CA020999 | BRCA2 | c.4915G>A (p.Val1639Ile) c.4546G>A (p.Val1516Ile) n.4915G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339270G>C | CA387783602 | BRCA2 | c.4915G>C (p.Val1639Leu) c.4546G>C (p.Val1516Leu) n.4915G>C | ClinVar dbSNP |
| 13 | g.32339270G= | CA2082817083 | BRCA2 | c.4915G= (p.Val1639=) c.4546G= (p.Val1516=) n.4915G= | |
| 13 | g.32339270G>T | CA387783603 | BRCA2 | c.4915G>T (p.Val1639Leu) c.4546G>T (p.Val1516Leu) n.4915G>T | ClinVar dbSNP |
| 13 | g.32339271T>A | CA387783605 | BRCA2 | c.4916T>A (p.Val1639Glu) c.4547T>A (p.Val1516Glu) n.4916T>A | dbSNP |
| 13 | g.32339271T>C | CA387783607 | BRCA2 | c.4916T>C (p.Val1639Ala) c.4547T>C (p.Val1516Ala) n.4916T>C | ClinVar dbSNP |
| 13 | g.32339271T>G | CA387783608 | BRCA2 | c.4916T>G (p.Val1639Gly) c.4547T>G (p.Val1516Gly) n.4916T>G | dbSNP |
| 13 | g.32339271_32339272delinsTA | CA2082817119 | BRCA2 | c.4916_4917delinsTA (p.Val1639=) c.4547_4548delinsTA (p.Val1516=) n.4916_4917delinsTA | |
| 13 | g.32339272del | CA021003 | BRCA2 | c.4917del (p.His1640MetfsTer4) c.4548del (p.His1517MetfsTer4) n.4917del | ClinVar dbSNP |
| 13 | g.32339272A>C | CA483438196 | BRCA2 | c.4917A>C (p.Val1639=) c.4548A>C (p.Val1516=) n.4917A>C | dbSNP |
| 13 | g.32339272A>G | CA483438199 | BRCA2 | c.4917A>G (p.Val1639=) c.4548A>G (p.Val1516=) n.4917A>G | dbSNP |
| 13 | g.32339272A>T | CA483438200 | BRCA2 | c.4917A>T (p.Val1639=) c.4548A>T (p.Val1516=) n.4917A>T | dbSNP |
| 13 | g.32339273C>A | CA387783611 | BRCA2 | c.4918C>A (p.His1640Asn) c.4549C>A (p.His1517Asn) n.4918C>A | gnomAD v4 |
| 13 | g.32339273C= | CA2082817133 | BRCA2 | c.4918C= (p.His1640=) c.4549C= (p.His1517=) n.4918C= | |
| 13 | g.32339273C>G | CA387783612 | BRCA2 | c.4918C>G (p.His1640Asp) c.4549C>G (p.His1517Asp) n.4918C>G | |
| 13 | g.32339273C>T | CA6940826 | BRCA2 | c.4918C>T (p.His1640Tyr) c.4549C>T (p.His1517Tyr) n.4918C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339273_32339276del | CA658761161 | BRCA2 | c.4918_4921del (p.His1640LysfsTer3) c.4549_4552del (p.His1517LysfsTer3) n.4918_4921del | |
| 13 | g.32339274A= | CA2082817147 | BRCA2 | c.4919A= (p.His1640=) c.4550A= (p.His1517=) n.4919A= | |
| 13 | g.32339274A>C | CA387783615 | BRCA2 | c.4919A>C (p.His1640Pro) c.4550A>C (p.His1517Pro) n.4919A>C | ClinVar dbSNP |
| 13 | g.32339274A>G | CA247508683 | BRCA2 | c.4919A>G (p.His1640Arg) c.4550A>G (p.His1517Arg) n.4919A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32339274A>T | CA387783617 | BRCA2 | c.4919A>T (p.His1640Leu) c.4550A>T (p.His1517Leu) n.4919A>T | dbSNP |
| 13 | g.32339275T>A | CA387783621 | BRCA2 | c.4920T>A (p.His1640Gln) c.4551T>A (p.His1517Gln) n.4920T>A | |
| 13 | g.32339275T>C | CA483438206 | BRCA2 | c.4920T>C (p.His1640=) c.4551T>C (p.His1517=) n.4920T>C | ClinVar dbSNP |
| 13 | g.32339275T>G | CA387783619 | BRCA2 | c.4920T>G (p.His1640Gln) c.4551T>G (p.His1517Gln) n.4920T>G | |
| 13 | g.32339275T= | CA2082817164 | BRCA2 | c.4920T= (p.His1640=) c.4551T= (p.His1517=) n.4920T= | |
| 13 | g.32339275_32339279delinsTGAAA | CA2082817158 | BRCA2 | c.4920_4924delinsTGAAA (p.His1640=) c.4551_4555delinsTGAAA (p.His1517=) n.4920_4924delinsTGAAA | |
| 13 | g.32339276G>A | CA387783623 | BRCA2 | c.4921G>A (p.Glu1641Lys) c.4552G>A (p.Glu1518Lys) n.4921G>A | |
| 13 | g.32339276G>C | CA387783624 | BRCA2 | c.4921G>C (p.Glu1641Gln) c.4552G>C (p.Glu1518Gln) n.4921G>C | dbSNP |
| 13 | g.32339276G= | CA2082817180 | BRCA2 | c.4921G= (p.Glu1641=) c.4552G= (p.Glu1518=) n.4921G= | |
| 13 | g.32339276G>T | CA387783625 | BRCA2 | c.4921G>T (p.Glu1641Ter) c.4552G>T (p.Glu1518Ter) n.4921G>T | ClinVar dbSNP |
| 13 | g.32339276_32339279del | CA021008 | BRCA2 | c.4921_4924del (p.Glu1641MetfsTer2) c.4552_4555del (p.Glu1518MetfsTer2) n.4921_4924del | ClinVar dbSNP |
| 13 | g.32339276_32339286delinsGAAAATGTAGA | CA2082817175 | BRCA2 | c.4921_4931delinsGAAAATGTAGA (p.Glu1641=) c.4552_4562delinsGAAAATGTAGA (p.Glu1518=) n.4921_4931delinsGAAAATGTAGA | |
| 13 | g.32339277A>C | CA387783628 | BRCA2 | c.4922A>C (p.Glu1641Ala) c.4553A>C (p.Glu1518Ala) n.4922A>C | |
| 13 | g.32339277A>G | CA387783630 | BRCA2 | c.4922A>G (p.Glu1641Gly) c.4553A>G (p.Glu1518Gly) n.4922A>G | ClinVar |
| 13 | g.32339277A>T | CA387783631 | BRCA2 | c.4922A>T (p.Glu1641Val) c.4553A>T (p.Glu1518Val) n.4922A>T | dbSNP |
| 13 | g.32339281_32339290del | CA021017 | BRCA2 | c.4926_4935del (p.Asn1642LysfsTer25) c.4557_4566del (p.Asn1519LysfsTer25) n.4926_4935del | ClinVar dbSNP |
| 13 | g.32339278A= | CA2082817193 | BRCA2 | c.4923A= (p.Glu1641=) c.4554A= (p.Glu1518=) n.4923A= | |
| 13 | g.32339278A>C | CA387783633 | BRCA2 | c.4923A>C (p.Glu1641Asp) c.4554A>C (p.Glu1518Asp) n.4923A>C | ClinVar dbSNP |
| 13 | g.32339278A>G | CA483438214 | BRCA2 | c.4923A>G (p.Glu1641=) c.4554A>G (p.Glu1518=) n.4923A>G | gnomAD v4 |
| 13 | g.32339278A>T | CA387783635 | BRCA2 | c.4923A>T (p.Glu1641Asp) c.4554A>T (p.Glu1518Asp) n.4923A>T | dbSNP |
| 13 | g.32339279A>C | CA387783636 | BRCA2 | c.4924A>C (p.Asn1642His) c.4555A>C (p.Asn1519His) n.4924A>C | dbSNP |
| 13 | g.32339279A>G | CA387783638 | BRCA2 | c.4924A>G (p.Asn1642Asp) c.4555A>G (p.Asn1519Asp) n.4924A>G | |
| 13 | g.32339279A>T | CA387783639 | BRCA2 | c.4924A>T (p.Asn1642Tyr) c.4555A>T (p.Asn1519Tyr) n.4924A>T | dbSNP |
| 13 | g.32339280A= | CA2082817201 | BRCA2 | c.4925A= (p.Asn1642=) c.4556A= (p.Asn1519=) n.4925A= | |
| 13 | g.32339280A>C | CA021014 | BRCA2 | c.4925A>C (p.Asn1642Thr) c.4556A>C (p.Asn1519Thr) n.4925A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339280A>G | CA387783641 | BRCA2 | c.4925A>G (p.Asn1642Ser) c.4556A>G (p.Asn1519Ser) n.4925A>G | gnomAD v4 |
| 13 | g.32339280A>T | CA387783640 | BRCA2 | c.4925A>T (p.Asn1642Ile) c.4556A>T (p.Asn1519Ile) n.4925A>T | dbSNP |
| 13 | g.32339280_32339282delinsATG | CA2082817206 | BRCA2 | c.4925_4927delinsATG (p.Asn1642=) c.4556_4558delinsATG (p.Asn1519=) n.4925_4927delinsATG | |
| 13 | g.32339281T>A | CA387783643 | BRCA2 | c.4926T>A (p.Asn1642Lys) c.4557T>A (p.Asn1519Lys) n.4926T>A | |
| 13 | g.32339281T>C | CA16606684 | BRCA2 | c.4926T>C (p.Asn1642=) c.4557T>C (p.Asn1519=) n.4926T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339281T>G | CA387783644 | BRCA2 | c.4926T>G (p.Asn1642Lys) c.4557T>G (p.Asn1519Lys) n.4926T>G | |
| 13 | g.32339281T= | CA2082817217 | BRCA2 | c.4926T= (p.Asn1642=) c.4557T= (p.Asn1519=) n.4926T= | |
| 13 | g.32339282_32339283del | CA916080552 | BRCA2 | c.4927_4928del (p.Val1643ArgfsTer22) c.4558_4559del (p.Val1520ArgfsTer22) n.4927_4928del | ClinVar dbSNP |
| 13 | g.32339282del | CA2695217884 | BRCA2 | c.4927del (p.Val1643Ter) c.4558del (p.Val1520Ter) n.4927del | |
| 13 | g.32339282G>A | CA10584447 | BRCA2 | c.4927G>A (p.Val1643Ile) c.4558G>A (p.Val1520Ile) n.4927G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339282G>C | CA387783647 | BRCA2 | c.4927G>C (p.Val1643Leu) c.4558G>C (p.Val1520Leu) n.4927G>C | dbSNP |
| 13 | g.32339282G= | CA2082817224 | BRCA2 | c.4927G= (p.Val1643=) c.4558G= (p.Val1520=) n.4927G= | |
| 13 | g.32339282G>T | CA387783649 | BRCA2 | c.4927G>T (p.Val1643Leu) c.4558G>T (p.Val1520Leu) n.4927G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339283T>A | CA387783650 | BRCA2 | c.4928T>A (p.Val1643Glu) c.4559T>A (p.Val1520Glu) n.4928T>A | ClinVar |
| 13 | g.32339283T>C | CA021023 | BRCA2 | c.4928T>C (p.Val1643Ala) c.4559T>C (p.Val1520Ala) n.4928T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339283T>G | CA387783652 | BRCA2 | c.4928T>G (p.Val1643Gly) c.4559T>G (p.Val1520Gly) n.4928T>G | |
| 13 | g.32339283T= | CA2082817244 | BRCA2 | c.4928T= (p.Val1643=) c.4559T= (p.Val1520=) n.4928T= | |
| 13 | g.32339283_32339288del | CA2573149298 | BRCA2 | c.4928_4933del (p.Val1643_Lys1645delinsGlu) c.4559_4564del (p.Val1520_Lys1522delinsGlu) n.4928_4933del | dbSNP |
| 13 | g.32339283_32339291delinsTAGAAAAAG | CA2082817240 | BRCA2 | c.4928_4936delinsTAGAAAAAG (p.Val1643=) c.4559_4567delinsTAGAAAAAG (p.Val1520=) n.4928_4936delinsTAGAAAAAG | |
| 13 | g.32339284A= | CA2082817259 | BRCA2 | c.4929A= (p.Val1643=) c.4560A= (p.Val1520=) n.4929A= | |
| 13 | g.32339284A>C | CA483438232 | BRCA2 | c.4929A>C (p.Val1643=) c.4560A>C (p.Val1520=) n.4929A>C | |
| 13 | g.32339284A>G | CA10579638 | BRCA2 | c.4929A>G (p.Val1643=) c.4560A>G (p.Val1520=) n.4929A>G | ClinVar dbSNP |
| 13 | g.32339284A>T | CA483438233 | BRCA2 | c.4929A>T (p.Val1643=) c.4560A>T (p.Val1520=) n.4929A>T | dbSNP |
| 13 | g.32339285_32339292del | CA10589277 | BRCA2 | c.4930_4937del (p.Glu1644AsnfsTer19) c.4561_4568del (p.Glu1521AsnfsTer19) n.4930_4937del | ClinVar dbSNP |
| 13 | g.32339285G>A | CA387783660 | BRCA2 | c.4930G>A (p.Glu1644Lys) c.4561G>A (p.Glu1521Lys) n.4930G>A | dbSNP |
| 13 | g.32339285G>C | CA387783657 | BRCA2 | c.4930G>C (p.Glu1644Gln) c.4561G>C (p.Glu1521Gln) n.4930G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339285G= | CA2082817284 | BRCA2 | c.4930G= (p.Glu1644=) c.4561G= (p.Glu1521=) n.4930G= | |
| 13 | g.32339285G>T | CA387783659 | BRCA2 | c.4930G>T (p.Glu1644Ter) c.4561G>T (p.Glu1521Ter) n.4930G>T | dbSNP |
| 13 | g.32339285_32339288delinsGAAA | CA2082817265 | BRCA2 | c.4930_4933delinsGAAA (p.Glu1644=) c.4561_4564delinsGAAA (p.Glu1521=) n.4930_4933delinsGAAA | |
| 13 | g.32339286A>C | CA387783663 | BRCA2 | c.4931A>C (p.Glu1644Ala) c.4562A>C (p.Glu1521Ala) n.4931A>C | gnomAD v4 |
| 13 | g.32339286A>G | CA387783664 | BRCA2 | c.4931A>G (p.Glu1644Gly) c.4562A>G (p.Glu1521Gly) n.4931A>G | ClinVar |
| 13 | g.32339286A>T | CA387783666 | BRCA2 | c.4931A>T (p.Glu1644Val) c.4562A>T (p.Glu1521Val) n.4931A>T | dbSNP |
| 13 | g.32339290del | CA021030 | BRCA2 | c.4935del (p.Glu1646LysfsTer24) c.4566del (p.Glu1523LysfsTer24) n.4935del | ClinVar dbSNP |
| 13 | g.32339288_32339290del | CA6940827 | BRCA2 | c.4933_4935del (p.Lys1645del) c.4564_4566del (p.Lys1522del) n.4933_4935del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339287A>C | CA387783673 | BRCA2 | c.4932A>C (p.Glu1644Asp) c.4563A>C (p.Glu1521Asp) n.4932A>C | dbSNP |
| 13 | g.32339287A>G | CA483438239 | BRCA2 | c.4932A>G (p.Glu1644=) c.4563A>G (p.Glu1521=) n.4932A>G | |
| 13 | g.32339287A>T | CA387783671 | BRCA2 | c.4932A>T (p.Glu1644Asp) c.4563A>T (p.Glu1521Asp) n.4932A>T | dbSNP |
| 13 | g.32339287_32339291delinsAAAAG | CA2082817301 | BRCA2 | c.4932_4936delinsAAAAG (p.Glu1644=) c.4563_4567delinsAAAAG (p.Glu1521=) n.4932_4936delinsAAAAG | |
| 13 | g.32339288A= | CA2082817313 | BRCA2 | c.4933A= (p.Lys1645=) c.4564A= (p.Lys1522=) n.4933A= | |
| 13 | g.32339288A>C | CA387783677 | BRCA2 | c.4933A>C (p.Lys1645Gln) c.4564A>C (p.Lys1522Gln) n.4933A>C | |
| 13 | g.32339288A>G | CA387783675 | BRCA2 | c.4933A>G (p.Lys1645Glu) c.4564A>G (p.Lys1522Glu) n.4933A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339288A>T | CA021026 | BRCA2 | c.4933A>T (p.Lys1645Ter) c.4564A>T (p.Lys1522Ter) n.4933A>T | ClinVar dbSNP |
| 13 | g.32339288_32339291delinsAAAG | CA2082817308 | BRCA2 | c.4933_4936delinsAAAG (p.Lys1645=) c.4564_4567delinsAAAG (p.Lys1522=) n.4933_4936delinsAAAG | |
| 13 | g.32339291_32339294del | CA021036 | BRCA2 | c.4936_4939del (p.Glu1646GlnfsTer23) c.4567_4570del (p.Glu1523GlnfsTer23) n.4936_4939del | ClinVar dbSNP gnomAD v4 |