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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.32339085_32339091delinsAATTAGC | CA2082815426 | BRCA2 | c.4730_4736delinsAATTAGC (p.Glu1577=) c.4361_4367delinsAATTAGC (p.Glu1454=) n.4730_4736delinsAATTAGC | |
| 13 | g.32339086_32339091delinsG | CA020725 | BRCA2 | c.4731_4736delinsG (p.Leu1578MetfsTer2) c.4362_4367delinsG (p.Leu1455MetfsTer2) n.4731_4736delinsG | ClinVar dbSNP |
| 13 | g.32339088T>A | CA387783026 | BRCA2 | c.4733T>A (p.Leu1578Ter) c.4364T>A (p.Leu1455Ter) n.4733T>A | dbSNP |
| 13 | g.32339088T>C | CA387783028 | BRCA2 | c.4733T>C (p.Leu1578Ser) c.4364T>C (p.Leu1455Ser) n.4733T>C | ClinVar dbSNP |
| 13 | g.32339088T>G | CA387783030 | BRCA2 | c.4733T>G (p.Leu1578Ter) c.4364T>G (p.Leu1455Ter) n.4733T>G | ClinVar dbSNP |
| 13 | g.32339089A>C | CA387783034 | BRCA2 | c.4734A>C (p.Leu1578Phe) c.4365A>C (p.Leu1455Phe) n.4734A>C | |
| 13 | g.32339089A>G | CA483438173 | BRCA2 | c.4734A>G (p.Leu1578=) c.4365A>G (p.Leu1455=) n.4734A>G | ClinVar dbSNP |
| 13 | g.32339089A>T | CA387783035 | BRCA2 | c.4734A>T (p.Leu1578Phe) c.4365A>T (p.Leu1455Phe) n.4734A>T | dbSNP |
| 13 | g.32339090_32339092dup | CA2573149275 | BRCA2 | c.4735_4737dup (p.Ala1579_Cys1580insAla) c.4366_4368dup (p.Ala1456_Cys1457insAla) n.4735_4737dup | ClinVar dbSNP |
| 13 | g.32339091_32339098dup | CA2580087305 | BRCA2 | c.4736_4743dup (p.Thr1582HisfsTer?) c.4367_4374dup (p.Thr1459HisfsTer?) n.4736_4743dup | ClinVar |
| 13 | g.32339090_32339099del | CA2499222178 | BRCA2 | c.4735_4744del (p.Ala1579ProfsTer?) c.4366_4375del (p.Ala1456ProfsTer?) n.4735_4744del | ClinVar dbSNP |
| 13 | g.32339090G>A | CA387783036 | BRCA2 | c.4735G>A (p.Ala1579Thr) c.4366G>A (p.Ala1456Thr) n.4735G>A | ClinVar dbSNP |
| 13 | g.32339090G>C | CA387783037 | BRCA2 | c.4735G>C (p.Ala1579Pro) c.4366G>C (p.Ala1456Pro) n.4735G>C | ClinVar dbSNP |
| 13 | g.32339090G= | CA2082815457 | BRCA2 | c.4735G= (p.Ala1579=) c.4366G= (p.Ala1456=) n.4735G= | |
| 13 | g.32339090G>T | CA387783039 | BRCA2 | c.4735G>T (p.Ala1579Ser) c.4366G>T (p.Ala1456Ser) n.4735G>T | dbSNP gnomAD v4 |
| 13 | g.32339090dup | CA2580087306 | BRCA2 | c.4735dup (p.Ala1579GlyfsTer3) c.4366dup (p.Ala1456GlyfsTer3) n.4735dup | ClinVar |
| 13 | g.32339091C>A | CA387783041 | BRCA2 | c.4736C>A (p.Ala1579Glu) c.4367C>A (p.Ala1456Glu) n.4736C>A | dbSNP |
| 13 | g.32339091C= | CA2082815470 | BRCA2 | c.4736C= (p.Ala1579=) c.4367C= (p.Ala1456=) n.4736C= | |
| 13 | g.32339091C>G | CA387783043 | BRCA2 | c.4736C>G (p.Ala1579Gly) c.4367C>G (p.Ala1456Gly) n.4736C>G | dbSNP |
| 13 | g.32339091C>T | CA387783044 | BRCA2 | c.4736C>T (p.Ala1579Val) c.4367C>T (p.Ala1456Val) n.4736C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339092A= | CA2082815484 | BRCA2 | c.4737A= (p.Ala1579=) c.4368A= (p.Ala1456=) n.4737A= | |
| 13 | g.32339092A>C | CA483438177 | BRCA2 | c.4737A>C (p.Ala1579=) c.4368A>C (p.Ala1456=) n.4737A>C | ClinVar dbSNP |
| 13 | g.32339092A>G | CA483438179 | BRCA2 | c.4737A>G (p.Ala1579=) c.4368A>G (p.Ala1456=) n.4737A>G | ClinVar dbSNP |
| 13 | g.32339092A>T | CA483438181 | BRCA2 | c.4737A>T (p.Ala1579=) c.4368A>T (p.Ala1456=) n.4737A>T | dbSNP |
| 13 | g.32339093T>A | CA387783045 | BRCA2 | c.4738T>A (p.Cys1580Ser) c.4369T>A (p.Cys1457Ser) n.4738T>A | dbSNP |
| 13 | g.32339093T>C | CA387783048 | BRCA2 | c.4738T>C (p.Cys1580Arg) c.4369T>C (p.Cys1457Arg) n.4738T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339093T>G | CA387783046 | BRCA2 | c.4738T>G (p.Cys1580Gly) c.4369T>G (p.Cys1457Gly) n.4738T>G | |
| 13 | g.32339093T= | CA2082815496 | BRCA2 | c.4738T= (p.Cys1580=) c.4369T= (p.Cys1457=) n.4738T= | |
| 13 | g.32339093dup | CA2580087308 | BRCA2 | c.4738dup (p.Cys1580LeufsTer2) c.4369dup (p.Cys1457LeufsTer2) n.4738dup | ClinVar |
| 13 | g.32339095_32339096dup | CA350547 | BRCA2 | c.4740_4741dup (p.Glu1581ValfsTer?) c.4371_4372dup (p.Glu1458ValfsTer?) n.4740_4741dup | ClinVar dbSNP |
| 13 | g.32339094G>A | CA020733 | BRCA2 | c.4739G>A (p.Cys1580Tyr) c.4370G>A (p.Cys1457Tyr) n.4739G>A | ClinVar dbSNP |
| 13 | g.32339094G>C | CA387783050 | BRCA2 | c.4739G>C (p.Cys1580Ser) c.4370G>C (p.Cys1457Ser) n.4739G>C | dbSNP |
| 13 | g.32339094G= | CA2082815508 | BRCA2 | c.4739G= (p.Cys1580=) c.4370G= (p.Cys1457=) n.4739G= | |
| 13 | g.32339094G>T | CA387783051 | BRCA2 | c.4739G>T (p.Cys1580Phe) c.4370G>T (p.Cys1457Phe) n.4739G>T | |
| 13 | g.32339094dup | CA658798096 | BRCA2 | c.4739dup (p.Cys1580TrpfsTer2) c.4370dup (p.Cys1457TrpfsTer2) n.4739dup | ClinVar dbSNP |
| 13 | g.32339095T>A | CA387783052 | BRCA2 | c.4740T>A (p.Cys1580Ter) c.4371T>A (p.Cys1457Ter) n.4740T>A | dbSNP |
| 13 | g.32339095T>C | CA483438183 | BRCA2 | c.4740T>C (p.Cys1580=) c.4371T>C (p.Cys1457=) n.4740T>C | dbSNP |
| 13 | g.32339095T>G | CA387783054 | BRCA2 | c.4740T>G (p.Cys1580Trp) c.4371T>G (p.Cys1457Trp) n.4740T>G | ClinVar dbSNP |
| 13 | g.32339095dup | CA2825002148 | BRCA2 | c.4740dup (p.Glu1581Ter) c.4371dup (p.Glu1458Ter) n.4740dup | ClinVar |
| 13 | g.32339095_32339096delinsTG | CA2082815518 | BRCA2 | c.4740_4741delinsTG (p.Cys1580=) c.4371_4372delinsTG (p.Cys1457=) n.4740_4741delinsTG | |
| 13 | g.32339095_32339096insTG | CA658761154 | BRCA2 | c.4740_4741insTG (p.Glu1581TrpfsTer?) c.4371_4372insTG (p.Glu1458TrpfsTer?) n.4740_4741insTG | |
| 13 | g.32339096G>A | CA020741 | BRCA2 | c.4741G>A (p.Glu1581Lys) c.4372G>A (p.Glu1458Lys) n.4741G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339096G>C | CA6940809 | BRCA2 | c.4741G>C (p.Glu1581Gln) c.4372G>C (p.Glu1458Gln) n.4741G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339096G= | CA2082815532 | BRCA2 | c.4741G= (p.Glu1581=) c.4372G= (p.Glu1458=) n.4741G= | |
| 13 | g.32339096G>T | CA387783057 | BRCA2 | c.4741G>T (p.Glu1581Ter) c.4372G>T (p.Glu1458Ter) n.4741G>T | ClinVar dbSNP |
| 13 | g.32339096delinsAA | CA10589271 | BRCA2 | c.4741delinsAA (p.Glu1581LysfsTer4) c.4372delinsAA (p.Glu1458LysfsTer4) n.4741delinsAA | ClinVar dbSNP |
| 13 | g.32339097A= | CA2082815542 | BRCA2 | c.4742A= (p.Glu1581=) c.4373A= (p.Glu1458=) n.4742A= | |
| 13 | g.32339097A>C | CA387783059 | BRCA2 | c.4742A>C (p.Glu1581Ala) c.4373A>C (p.Glu1458Ala) n.4742A>C | |
| 13 | g.32339097A>G | CA387783062 | BRCA2 | c.4742A>G (p.Glu1581Gly) c.4373A>G (p.Glu1458Gly) n.4742A>G | ClinVar dbSNP |
| 13 | g.32339097A>T | CA387783058 | BRCA2 | c.4742A>T (p.Glu1581Val) c.4373A>T (p.Glu1458Val) n.4742A>T | dbSNP |
| 13 | g.32339097_32339098insTG | CA020745 | BRCA2 | c.4742_4743insTG (p.Glu1581AspfsTer?) c.4373_4374insTG (p.Glu1458AspfsTer?) n.4742_4743insTG | ClinVar dbSNP |
| 13 | g.32339098G>A | CA483438187 | BRCA2 | c.4743G>A (p.Glu1581=) c.4374G>A (p.Glu1458=) n.4743G>A | dbSNP |
| 13 | g.32339098G>C | CA387783064 | BRCA2 | c.4743G>C (p.Glu1581Asp) c.4374G>C (p.Glu1458Asp) n.4743G>C | dbSNP |
| 13 | g.32339098G>T | CA387783065 | BRCA2 | c.4743G>T (p.Glu1581Asp) c.4374G>T (p.Glu1458Asp) n.4743G>T | dbSNP |
| 13 | g.32339098_32339102delinsGACCA | CA2082815556 | BRCA2 | c.4743_4747delinsGACCA (p.Glu1581=) c.4374_4378delinsGACCA (p.Glu1458=) n.4743_4747delinsGACCA | |
| 13 | g.32339099A>C | CA387783067 | BRCA2 | c.4744A>C (p.Thr1582Pro) c.4375A>C (p.Thr1459Pro) n.4744A>C | |
| 13 | g.32339099A>G | CA387783069 | BRCA2 | c.4744A>G (p.Thr1582Ala) c.4375A>G (p.Thr1459Ala) n.4744A>G | ClinVar |
| 13 | g.32339099A>T | CA387783070 | BRCA2 | c.4744A>T (p.Thr1582Ser) c.4375A>T (p.Thr1459Ser) n.4744A>T | dbSNP |
| 13 | g.32339099_32339102del | CA919242635 | BRCA2 | c.4744_4747del (p.Thr1582LeufsTer?) c.4375_4378del (p.Thr1459LeufsTer?) n.4744_4747del | dbSNP |
| 13 | g.32339100C>A | CA387783072 | BRCA2 | c.4745C>A (p.Thr1582Asn) c.4376C>A (p.Thr1459Asn) n.4745C>A | dbSNP |
| 13 | g.32339100C= | CA2082815564 | BRCA2 | c.4745C= (p.Thr1582=) c.4376C= (p.Thr1459=) n.4745C= | |
| 13 | g.32339100C>G | CA387783074 | BRCA2 | c.4745C>G (p.Thr1582Ser) c.4376C>G (p.Thr1459Ser) n.4745C>G | dbSNP |
| 13 | g.32339100C>T | CA6940810 | BRCA2 | c.4745C>T (p.Thr1582Ile) c.4376C>T (p.Thr1459Ile) n.4745C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339101C>A | CA483438188 | BRCA2 | c.4746C>A (p.Thr1582=) c.4377C>A (p.Thr1459=) n.4746C>A | dbSNP |
| 13 | g.32339101C>G | CA483438193 | BRCA2 | c.4746C>G (p.Thr1582=) c.4377C>G (p.Thr1459=) n.4746C>G | dbSNP |
| 13 | g.32339101C>T | CA483438190 | BRCA2 | c.4746C>T (p.Thr1582=) c.4377C>T (p.Thr1459=) n.4746C>T | dbSNP |
| 13 | g.32339101_32339104delinsCATT | CA2082815571 | BRCA2 | c.4746_4749delinsCATT (p.Thr1582=) c.4377_4380delinsCATT (p.Thr1459=) n.4746_4749delinsCATT | |
| 13 | g.32339102A= | CA2082815579 | BRCA2 | c.4747A= (p.Ile1583=) c.4378A= (p.Ile1460=) n.4747A= | |
| 13 | g.32339102A>C | CA387783076 | BRCA2 | c.4747A>C (p.Ile1583Leu) c.4378A>C (p.Ile1460Leu) n.4747A>C | dbSNP |
| 13 | g.32339102A>G | CA10579629 | BRCA2 | c.4747A>G (p.Ile1583Val) c.4378A>G (p.Ile1460Val) n.4747A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339102A>T | CA020749 | BRCA2 | c.4747A>T (p.Ile1583Phe) c.4378A>T (p.Ile1460Phe) n.4747A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339102_32339103delinsAT | CA2082815584 | BRCA2 | c.4747_4748delinsAT (p.Ile1583=) c.4378_4379delinsAT (p.Ile1460=) n.4747_4748delinsAT | |
| 13 | g.32339102_32339104del | CA915948471 | BRCA2 | c.4747_4749del (p.Ile1583del) c.4378_4380del (p.Ile1460del) n.4747_4749del | ClinVar dbSNP |
| 13 | g.32339103T>A | CA387783079 | BRCA2 | c.4748T>A (p.Ile1583Asn) c.4379T>A (p.Ile1460Asn) n.4748T>A | dbSNP |
| 13 | g.32339103T>C | CA387783077 | BRCA2 | c.4748T>C (p.Ile1583Thr) c.4379T>C (p.Ile1460Thr) n.4748T>C | ClinVar dbSNP |
| 13 | g.32339103T>G | CA387783078 | BRCA2 | c.4748T>G (p.Ile1583Ser) c.4379T>G (p.Ile1460Ser) n.4748T>G | dbSNP |
| 13 | g.32339103T= | CA2082815596 | BRCA2 | c.4748T= (p.Ile1583=) c.4379T= (p.Ile1460=) n.4748T= | |
| 13 | g.32339104del | CA645509349 | BRCA2 | c.4749del (p.Ile1583MetfsTer?) c.4380del (p.Ile1460MetfsTer?) n.4749del | ClinVar dbSNP |
| 13 | g.32339104T>A | CA483438197 | BRCA2 | c.4749T>A (p.Ile1583=) c.4380T>A (p.Ile1460=) n.4749T>A | ClinVar dbSNP |
| 13 | g.32339104T>C | CA483438198 | BRCA2 | c.4749T>C (p.Ile1583=) c.4380T>C (p.Ile1460=) n.4749T>C | dbSNP |
| 13 | g.32339104T>G | CA387783080 | BRCA2 | c.4749T>G (p.Ile1583Met) c.4380T>G (p.Ile1460Met) n.4749T>G | ClinVar dbSNP |
| 13 | g.32339104T= | CA2082815608 | BRCA2 | c.4749T= (p.Ile1583=) c.4380T= (p.Ile1460=) n.4749T= | |
| 13 | g.32339105G>A | CA387783081 | BRCA2 | c.4750G>A (p.Glu1584Lys) c.4381G>A (p.Glu1461Lys) n.4750G>A | ClinVar dbSNP |
| 13 | g.32339105G>C | CA247508355 | BRCA2 | c.4750G>C (p.Glu1584Gln) c.4381G>C (p.Glu1461Gln) n.4750G>C | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32339105G= | CA2082815627 | BRCA2 | c.4750G= (p.Glu1584=) c.4381G= (p.Glu1461=) n.4750G= | |
| 13 | g.32339105G>T | CA387783082 | BRCA2 | c.4750G>T (p.Glu1584Ter) c.4381G>T (p.Glu1461Ter) n.4750G>T | dbSNP |
| 13 | g.32339105_32339106delinsAG | CA16619715 | BRCA2 | c.4750_4751delinsAG (p.Glu1584Arg) c.4381_4382delinsAG (p.Glu1461Arg) n.4750_4751delinsAG | ClinVar dbSNP |
| 13 | g.32339105_32339106delinsGA | CA2082815634 | BRCA2 | c.4750_4751delinsGA (p.Glu1584=) c.4381_4382delinsGA (p.Glu1461=) n.4750_4751delinsGA | |
| 13 | g.32339106A>C | CA387783083 | BRCA2 | c.4751A>C (p.Glu1584Ala) c.4382A>C (p.Glu1461Ala) n.4751A>C | |
| 13 | g.32339106A>G | CA387783085 | BRCA2 | c.4751A>G (p.Glu1584Gly) c.4382A>G (p.Glu1461Gly) n.4751A>G | dbSNP |
| 13 | g.32339106A>T | CA387783088 | BRCA2 | c.4751A>T (p.Glu1584Val) c.4382A>T (p.Glu1461Val) n.4751A>T | dbSNP COSMIC COSMIC |
| 13 | g.32339107G>A | CA483438202 | BRCA2 | c.4752G>A (p.Glu1584=) c.4383G>A (p.Glu1461=) n.4752G>A | dbSNP |
| 13 | g.32339107G>C | CA387783090 | BRCA2 | c.4752G>C (p.Glu1584Asp) c.4383G>C (p.Glu1461Asp) n.4752G>C | dbSNP |
| 13 | g.32339107G>T | CA387783091 | BRCA2 | c.4752G>T (p.Glu1584Asp) c.4383G>T (p.Glu1461Asp) n.4752G>T | dbSNP |
| 13 | g.32339108A>C | CA387783093 | BRCA2 | c.4753A>C (p.Ile1585Leu) c.4384A>C (p.Ile1462Leu) n.4753A>C | dbSNP |
| 13 | g.32339108A>G | CA387783095 | BRCA2 | c.4753A>G (p.Ile1585Val) c.4384A>G (p.Ile1462Val) n.4753A>G | |
| 13 | g.32339108A>T | CA387783096 | BRCA2 | c.4753A>T (p.Ile1585Phe) c.4384A>T (p.Ile1462Phe) n.4753A>T | ClinVar dbSNP |
| 13 | g.32339109T>A | CA387783103 | BRCA2 | c.4754T>A (p.Ile1585Asn) c.4385T>A (p.Ile1462Asn) n.4754T>A | |
| 13 | g.32339109T>C | CA387783099 | BRCA2 | c.4754T>C (p.Ile1585Thr) c.4385T>C (p.Ile1462Thr) n.4754T>C | |
| 13 | g.32339109T>G | CA387783097 | BRCA2 | c.4754T>G (p.Ile1585Ser) c.4385T>G (p.Ile1462Ser) n.4754T>G | |
| 13 | g.32339110C>A | CA483438207 | BRCA2 | c.4755C>A (p.Ile1585=) c.4386C>A (p.Ile1462=) n.4755C>A | dbSNP |
| 13 | g.32339110C>G | CA387783105 | BRCA2 | c.4755C>G (p.Ile1585Met) c.4386C>G (p.Ile1462Met) n.4755C>G | dbSNP |
| 13 | g.32339110C>T | CA483438208 | BRCA2 | c.4755C>T (p.Ile1585=) c.4386C>T (p.Ile1462=) n.4755C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339111A= | CA2082815641 | BRCA2 | c.4756A= (p.Thr1586=) c.4387A= (p.Thr1463=) n.4756A= | |
| 13 | g.32339111A>C | CA387783110 | BRCA2 | c.4756A>C (p.Thr1586Pro) c.4387A>C (p.Thr1463Pro) n.4756A>C | dbSNP |
| 13 | g.32339111A>G | CA387783107 | BRCA2 | c.4756A>G (p.Thr1586Ala) c.4387A>G (p.Thr1463Ala) n.4756A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339111A>T | CA387783108 | BRCA2 | c.4756A>T (p.Thr1586Ser) c.4387A>T (p.Thr1463Ser) n.4756A>T | dbSNP |
| 13 | g.32339112C>A | CA387783112 | BRCA2 | c.4757C>A (p.Thr1586Lys) c.4388C>A (p.Thr1463Lys) n.4757C>A | dbSNP |
| 13 | g.32339112C>G | CA387783113 | BRCA2 | c.4757C>G (p.Thr1586Arg) c.4388C>G (p.Thr1463Arg) n.4757C>G | dbSNP |
| 13 | g.32339112C>T | CA387783117 | BRCA2 | c.4757C>T (p.Thr1586Ile) c.4388C>T (p.Thr1463Ile) n.4757C>T | dbSNP gnomAD v4 |
| 13 | g.32339113A>C | CA483438213 | BRCA2 | c.4758A>C (p.Thr1586=) c.4389A>C (p.Thr1463=) n.4758A>C | |
| 13 | g.32339113A>G | CA483438212 | BRCA2 | c.4758A>G (p.Thr1586=) c.4389A>G (p.Thr1463=) n.4758A>G | dbSNP |
| 13 | g.32339113A>T | CA483438211 | BRCA2 | c.4758A>T (p.Thr1586=) c.4389A>T (p.Thr1463=) n.4758A>T | dbSNP |
| 13 | g.32339114G>A | CA020778 | BRCA2 | c.4759G>A (p.Ala1587Thr) c.4390G>A (p.Ala1464Thr) n.4759G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339114G>C | CA387783120 | BRCA2 | c.4759G>C (p.Ala1587Pro) c.4390G>C (p.Ala1464Pro) n.4759G>C | dbSNP |
| 13 | g.32339114G= | CA2082815647 | BRCA2 | c.4759G= (p.Ala1587=) c.4390G= (p.Ala1464=) n.4759G= | |
| 13 | g.32339114G>T | CA387783122 | BRCA2 | c.4759G>T (p.Ala1587Ser) c.4390G>T (p.Ala1464Ser) n.4759G>T | dbSNP |
| 13 | g.32339115C>A | CA387783123 | BRCA2 | c.4760C>A (p.Ala1587Asp) c.4391C>A (p.Ala1464Asp) n.4760C>A | dbSNP |
| 13 | g.32339115C= | CA2082815648 | BRCA2 | c.4760C= (p.Ala1587=) c.4391C= (p.Ala1464=) n.4760C= | |
| 13 | g.32339115C>G | CA387783125 | BRCA2 | c.4760C>G (p.Ala1587Gly) c.4391C>G (p.Ala1464Gly) n.4760C>G | dbSNP |
| 13 | g.32339115C>T | CA387783129 | BRCA2 | c.4760C>T (p.Ala1587Val) c.4391C>T (p.Ala1464Val) n.4760C>T | ClinVar dbSNP |
| 13 | g.32339116T>A | CA483438216 | BRCA2 | c.4761T>A (p.Ala1587=) c.4392T>A (p.Ala1464=) n.4761T>A | ClinVar dbSNP |
| 13 | g.32339116T>C | CA483438218 | BRCA2 | c.4761T>C (p.Ala1587=) c.4392T>C (p.Ala1464=) n.4761T>C | ClinVar dbSNP |
| 13 | g.32339116T>G | CA483438217 | BRCA2 | c.4761T>G (p.Ala1587=) c.4392T>G (p.Ala1464=) n.4761T>G | |
| 13 | g.32339119_32339138dup | CA2580087309 | BRCA2 | c.4764_4783dup (p.Gln1595ProfsTer29) c.4395_4414dup (p.Gln1472ProfsTer29) n.4764_4783dup | ClinVar |
| 13 | g.32339117G>A | CA387783135 | BRCA2 | c.4762G>A (p.Ala1588Thr) c.4393G>A (p.Ala1465Thr) n.4762G>A | |
| 13 | g.32339117G>C | CA387783132 | BRCA2 | c.4762G>C (p.Ala1588Pro) c.4393G>C (p.Ala1465Pro) n.4762G>C | |
| 13 | g.32339117G>T | CA387783131 | BRCA2 | c.4762G>T (p.Ala1588Ser) c.4393G>T (p.Ala1465Ser) n.4762G>T | gnomAD v4 |
| 13 | g.32339117_32339118delinsGC | CA2082815651 | BRCA2 | c.4762_4763delinsGC (p.Ala1588=) c.4393_4394delinsGC (p.Ala1465=) n.4762_4763delinsGC | |
| 13 | g.32339118C>A | CA387783137 | BRCA2 | c.4763C>A (p.Ala1588Asp) c.4394C>A (p.Ala1465Asp) n.4763C>A | dbSNP |
| 13 | g.32339118C>G | CA387783138 | BRCA2 | c.4763C>G (p.Ala1588Gly) c.4394C>G (p.Ala1465Gly) n.4763C>G | dbSNP |
| 13 | g.32339118C>T | CA387783139 | BRCA2 | c.4763C>T (p.Ala1588Val) c.4394C>T (p.Ala1465Val) n.4763C>T | ClinVar dbSNP |
| 13 | g.32339121dup | CA2697551760 | BRCA2 | c.4766dup (p.Cys1591ValfsTer2) c.4397dup (p.Cys1468ValfsTer2) n.4766dup | ClinVar |
| 13 | g.32339121del | CA020807 | BRCA2 | c.4766del (p.Pro1589GlnfsTer28) c.4397del (p.Pro1466GlnfsTer28) n.4766del | ClinVar dbSNP |
| 13 | g.32339119C>A | CA483438223 | BRCA2 | c.4764C>A (p.Ala1588=) c.4395C>A (p.Ala1465=) n.4764C>A | dbSNP |
| 13 | g.32339119C>G | CA483438224 | BRCA2 | c.4764C>G (p.Ala1588=) c.4395C>G (p.Ala1465=) n.4764C>G | dbSNP |
| 13 | g.32339119C>T | CA483438225 | BRCA2 | c.4764C>T (p.Ala1588=) c.4395C>T (p.Ala1465=) n.4764C>T | ClinVar dbSNP |
| 13 | g.32339120C>A | CA387783142 | BRCA2 | c.4765C>A (p.Pro1589Thr) c.4396C>A (p.Pro1466Thr) n.4765C>A | dbSNP |
| 13 | g.32339120C= | CA2082815666 | BRCA2 | c.4765C= (p.Pro1589=) c.4396C= (p.Pro1466=) n.4765C= | |
| 13 | g.32339120C>G | CA10579630 | BRCA2 | c.4765C>G (p.Pro1589Ala) c.4396C>G (p.Pro1466Ala) n.4765C>G | ClinVar dbSNP |
| 13 | g.32339120C>T | CA387783144 | BRCA2 | c.4765C>T (p.Pro1589Ser) c.4396C>T (p.Pro1466Ser) n.4765C>T | dbSNP |
| 13 | g.32339121C>A | CA387783146 | BRCA2 | c.4766C>A (p.Pro1589Gln) c.4397C>A (p.Pro1466Gln) n.4766C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339121C>G | CA387783148 | BRCA2 | c.4766C>G (p.Pro1589Arg) c.4397C>G (p.Pro1466Arg) n.4766C>G | dbSNP gnomAD v4 |
| 13 | g.32339121C>T | CA387783149 | BRCA2 | c.4766C>T (p.Pro1589Leu) c.4397C>T (p.Pro1466Leu) n.4766C>T | dbSNP |
| 13 | g.32339121_32339123delinsCAA | CA2082815676 | BRCA2 | c.4766_4768delinsCAA (p.Pro1589=) c.4397_4399delinsCAA (p.Pro1466=) n.4766_4768delinsCAA | |
| 13 | g.32339122A= | CA2082815695 | BRCA2 | c.4767A= (p.Pro1589=) c.4398A= (p.Pro1466=) n.4767A= | |
| 13 | g.32339122A>C | CA483438229 | BRCA2 | c.4767A>C (p.Pro1589=) c.4398A>C (p.Pro1466=) n.4767A>C | ClinVar dbSNP |
| 13 | g.32339122A>G | CA020811 | BRCA2 | c.4767A>G (p.Pro1589=) c.4398A>G (p.Pro1466=) n.4767A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339122A>T | CA483438230 | BRCA2 | c.4767A>T (p.Pro1589=) c.4398A>T (p.Pro1466=) n.4767A>T | dbSNP |
| 13 | g.32339124del | CA10585932 | BRCA2 | c.4769del (p.Lys1590SerfsTer27) c.4400del (p.Lys1467SerfsTer27) n.4769del | ClinVar dbSNP |
| 13 | g.32339123_32339124del | CA1139663215 | BRCA2 | c.4768_4769del (p.Lys1590ValfsTer2) c.4399_4400del (p.Lys1467ValfsTer2) n.4768_4769del | ClinVar dbSNP |
| 13 | g.32339123A>C | CA387783154 | BRCA2 | c.4768A>C (p.Lys1590Gln) c.4399A>C (p.Lys1467Gln) n.4768A>C | dbSNP |
| 13 | g.32339123A>G | CA387783156 | BRCA2 | c.4768A>G (p.Lys1590Glu) c.4399A>G (p.Lys1467Glu) n.4768A>G | ClinVar dbSNP |
| 13 | g.32339123A>T | CA387783153 | BRCA2 | c.4768A>T (p.Lys1590Ter) c.4399A>T (p.Lys1467Ter) n.4768A>T | dbSNP |
| 13 | g.32339124A= | CA2082815708 | BRCA2 | c.4769A= (p.Lys1590=) c.4400A= (p.Lys1467=) n.4769A= | |
| 13 | g.32339124A>C | CA387783158 | BRCA2 | c.4769A>C (p.Lys1590Thr) c.4400A>C (p.Lys1467Thr) n.4769A>C | |
| 13 | g.32339124A>G | CA387783160 | BRCA2 | c.4769A>G (p.Lys1590Arg) c.4400A>G (p.Lys1467Arg) n.4769A>G | ClinVar dbSNP |
| 13 | g.32339124A>T | CA387783161 | BRCA2 | c.4769A>T (p.Lys1590Met) c.4400A>T (p.Lys1467Met) n.4769A>T | dbSNP |
| 13 | g.32339124_32339126delinsAGT | CA2082815717 | BRCA2 | c.4769_4771delinsAGT (p.Lys1590=) c.4400_4402delinsAGT (p.Lys1467=) n.4769_4771delinsAGT | |
| 13 | g.32339125G>A | CA483438236 | BRCA2 | c.4770G>A (p.Lys1590=) c.4401G>A (p.Lys1467=) n.4770G>A | ClinVar dbSNP |
| 13 | g.32339125G>C | CA387783163 | BRCA2 | c.4770G>C (p.Lys1590Asn) c.4401G>C (p.Lys1467Asn) n.4770G>C | dbSNP |
| 13 | g.32339125G>T | CA387783165 | BRCA2 | c.4770G>T (p.Lys1590Asn) c.4401G>T (p.Lys1467Asn) n.4770G>T | ClinVar |
| 13 | g.32339127_32339128del | CA916080551 | BRCA2 | c.4772_4773del (p.Cys1591Ter) c.4403_4404del (p.Cys1468Ter) n.4772_4773del | ClinVar dbSNP |
| 13 | g.32339126T>A | CA10577475 | BRCA2 | c.4771T>A (p.Cys1591Ser) c.4402T>A (p.Cys1468Ser) n.4771T>A | ClinVar dbSNP |
| 13 | g.32339126T>C | CA6940811 | BRCA2 | c.4771T>C (p.Cys1591Arg) c.4402T>C (p.Cys1468Arg) n.4771T>C | dbSNP ExAC gnomAD v2 |
| 13 | g.32339126T>G | CA387783167 | BRCA2 | c.4771T>G (p.Cys1591Gly) c.4402T>G (p.Cys1468Gly) n.4771T>G | dbSNP |
| 13 | g.32339126T= | CA2082815727 | BRCA2 | c.4771T= (p.Cys1591=) c.4402T= (p.Cys1468=) n.4771T= | |
| 13 | g.32339127G>A | CA387783169 | BRCA2 | c.4772G>A (p.Cys1591Tyr) c.4403G>A (p.Cys1468Tyr) n.4772G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339127G>C | CA387783170 | BRCA2 | c.4772G>C (p.Cys1591Ser) c.4403G>C (p.Cys1468Ser) n.4772G>C | ClinVar dbSNP |
| 13 | g.32339127G= | CA2082815737 | BRCA2 | c.4772G= (p.Cys1591=) c.4403G= (p.Cys1468=) n.4772G= | |
| 13 | g.32339127G>T | CA387783171 | BRCA2 | c.4772G>T (p.Cys1591Phe) c.4403G>T (p.Cys1468Phe) n.4772G>T | ClinVar |
| 13 | g.32339128T>A | CA387783172 | BRCA2 | c.4773T>A (p.Cys1591Ter) c.4404T>A (p.Cys1468Ter) n.4773T>A | |
| 13 | g.32339128T>C | CA483438238 | BRCA2 | c.4773T>C (p.Cys1591=) c.4404T>C (p.Cys1468=) n.4773T>C | |
| 13 | g.32339128T>G | CA387783174 | BRCA2 | c.4773T>G (p.Cys1591Trp) c.4404T>G (p.Cys1468Trp) n.4773T>G | |
| 13 | g.32339128_32339129del | CA2695199686 | BRCA2 | c.4773_4774del (p.Cys1591Ter) c.4404_4405del (p.Cys1468Ter) n.4773_4774del | ClinVar |
| 13 | g.32339129A= | CA2082815748 | BRCA2 | c.4774A= (p.Lys1592=) c.4405A= (p.Lys1469=) n.4774A= | |
| 13 | g.32339129A>C | CA387783175 | BRCA2 | c.4774A>C (p.Lys1592Gln) c.4405A>C (p.Lys1469Gln) n.4774A>C | |
| 13 | g.32339129A>G | CA387783177 | BRCA2 | c.4774A>G (p.Lys1592Glu) c.4405A>G (p.Lys1469Glu) n.4774A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339129A>T | CA10589272 | BRCA2 | c.4774A>T (p.Lys1592Ter) c.4405A>T (p.Lys1469Ter) n.4774A>T | ClinVar dbSNP |
| 13 | g.32339131del | CA2727920248 | BRCA2 | c.4776del (p.Glu1593LysfsTer24) c.4407del (p.Glu1470LysfsTer24) n.4776del | dbSNP |
| 13 | g.32339130A>C | CA387783179 | BRCA2 | c.4775A>C (p.Lys1592Thr) c.4406A>C (p.Lys1469Thr) n.4775A>C | |
| 13 | g.32339130A>G | CA387783181 | BRCA2 | c.4775A>G (p.Lys1592Arg) c.4406A>G (p.Lys1469Arg) n.4775A>G | dbSNP |
| 13 | g.32339130A>T | CA387783182 | BRCA2 | c.4775A>T (p.Lys1592Ile) c.4406A>T (p.Lys1469Ile) n.4775A>T | dbSNP |
| 13 | g.32339131A>C | CA387783184 | BRCA2 | c.4776A>C (p.Lys1592Asn) c.4407A>C (p.Lys1469Asn) n.4776A>C | ClinVar gnomAD v4 |
| 13 | g.32339131A>G | CA483438244 | BRCA2 | c.4776A>G (p.Lys1592=) c.4407A>G (p.Lys1469=) n.4776A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339131A>T | CA387783185 | BRCA2 | c.4776A>T (p.Lys1592Asn) c.4407A>T (p.Lys1469Asn) n.4776A>T | |
| 13 | g.32339135_32339142del | CA2825002149 | BRCA2 | c.4780_4787del (p.Met1594PhefsTer4) c.4411_4418del (p.Met1471PhefsTer4) n.4780_4787del | ClinVar |
| 13 | g.32339132G>A | CA387783187 | BRCA2 | c.4777G>A (p.Glu1593Lys) c.4408G>A (p.Glu1470Lys) n.4777G>A | dbSNP gnomAD v4 |
| 13 | g.32339132G>C | CA387783189 | BRCA2 | c.4777G>C (p.Glu1593Gln) c.4408G>C (p.Glu1470Gln) n.4777G>C | dbSNP |
| 13 | g.32339132G>T | CA387783191 | BRCA2 | c.4777G>T (p.Glu1593Ter) c.4408G>T (p.Glu1470Ter) n.4777G>T | COSMIC |
| 13 | g.32339132_32339133delinsGA | CA2082815758 | BRCA2 | c.4777_4778delinsGA (p.Glu1593=) c.4408_4409delinsGA (p.Glu1470=) n.4777_4778delinsGA | |
| 13 | g.32339133A>C | CA387783192 | BRCA2 | c.4778A>C (p.Glu1593Ala) c.4409A>C (p.Glu1470Ala) n.4778A>C | |
| 13 | g.32339133A>G | CA387783194 | BRCA2 | c.4778A>G (p.Glu1593Gly) c.4409A>G (p.Glu1470Gly) n.4778A>G | |
| 13 | g.32339133A>T | CA387783195 | BRCA2 | c.4778A>T (p.Glu1593Val) c.4409A>T (p.Glu1470Val) n.4778A>T | dbSNP |
| 13 | g.32339135del | CA020827 | BRCA2 | c.4780del (p.Met1594CysfsTer23) c.4411del (p.Met1471CysfsTer23) n.4780del | ClinVar dbSNP |
| 13 | g.32339134A= | CA2082815782 | BRCA2 | c.4779A= (p.Glu1593=) c.4410A= (p.Glu1470=) n.4779A= | |
| 13 | g.32339134A>C | CA020822 | BRCA2 | c.4779A>C (p.Glu1593Asp) c.4410A>C (p.Glu1470Asp) n.4779A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339134A>G | CA483438247 | BRCA2 | c.4779A>G (p.Glu1593=) c.4410A>G (p.Glu1470=) n.4779A>G | |
| 13 | g.32339134A>T | CA387783198 | BRCA2 | c.4779A>T (p.Glu1593Asp) c.4410A>T (p.Glu1470Asp) n.4779A>T | dbSNP |
| 13 | g.32339135A>C | CA387783202 | BRCA2 | c.4780A>C (p.Met1594Leu) c.4411A>C (p.Met1471Leu) n.4780A>C | dbSNP |
| 13 | g.32339135A>G | CA387783201 | BRCA2 | c.4780A>G (p.Met1594Val) c.4411A>G (p.Met1471Val) n.4780A>G | ClinVar dbSNP |
| 13 | g.32339135A>T | CA387783203 | BRCA2 | c.4780A>T (p.Met1594Leu) c.4411A>T (p.Met1471Leu) n.4780A>T | dbSNP |
| 13 | g.32339136T>A | CA387783206 | BRCA2 | c.4781T>A (p.Met1594Lys) c.4412T>A (p.Met1471Lys) n.4781T>A | dbSNP |
| 13 | g.32339136T>C | CA387783208 | BRCA2 | c.4781T>C (p.Met1594Thr) c.4412T>C (p.Met1471Thr) n.4781T>C | |
| 13 | g.32339136T>G | CA020830 | BRCA2 | c.4781T>G (p.Met1594Arg) c.4412T>G (p.Met1471Arg) n.4781T>G | ClinVar dbSNP |
| 13 | g.32339136T= | CA2082815789 | BRCA2 | c.4781T= (p.Met1594=) c.4412T= (p.Met1471=) n.4781T= | |
| 13 | g.32339137G>A | CA387783210 | BRCA2 | c.4782G>A (p.Met1594Ile) c.4413G>A (p.Met1471Ile) n.4782G>A | ClinVar dbSNP |
| 13 | g.32339137G>C | CA387783211 | BRCA2 | c.4782G>C (p.Met1594Ile) c.4413G>C (p.Met1471Ile) n.4782G>C | dbSNP |
| 13 | g.32339137G= | CA2082815802 | BRCA2 | c.4782G= (p.Met1594=) c.4413G= (p.Met1471=) n.4782G= | |
| 13 | g.32339137G>T | CA10579631 | BRCA2 | c.4782G>T (p.Met1594Ile) c.4413G>T (p.Met1471Ile) n.4782G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339138C>A | CA387783214 | BRCA2 | c.4783C>A (p.Gln1595Lys) c.4414C>A (p.Gln1472Lys) n.4783C>A | dbSNP |
| 13 | g.32339138C= | CA2082815812 | BRCA2 | c.4783C= (p.Gln1595=) c.4414C= (p.Gln1472=) n.4783C= | |
| 13 | g.32339138C>G | CA387783215 | BRCA2 | c.4783C>G (p.Gln1595Glu) c.4414C>G (p.Gln1472Glu) n.4783C>G | dbSNP |
| 13 | g.32339138C>T | CA10589273 | BRCA2 | c.4783C>T (p.Gln1595Ter) c.4414C>T (p.Gln1472Ter) n.4783C>T | ClinVar dbSNP |
| 13 | g.32339139A= | CA2082815820 | BRCA2 | c.4784A= (p.Gln1595=) c.4415A= (p.Gln1472=) n.4784A= | |
| 13 | g.32339139A>C | CA020833 | BRCA2 | c.4784A>C (p.Gln1595Pro) c.4415A>C (p.Gln1472Pro) n.4784A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339139A>G | CA387783218 | BRCA2 | c.4784A>G (p.Gln1595Arg) c.4415A>G (p.Gln1472Arg) n.4784A>G | dbSNP |
| 13 | g.32339139A>T | CA387783219 | BRCA2 | c.4784A>T (p.Gln1595Leu) c.4415A>T (p.Gln1472Leu) n.4784A>T | dbSNP |
| 13 | g.32339140G>A | CA483438326 | BRCA2 | c.4785G>A (p.Gln1595=) c.4416G>A (p.Gln1472=) n.4785G>A | dbSNP |
| 13 | g.32339140G>C | CA387783221 | BRCA2 | c.4785G>C (p.Gln1595His) c.4416G>C (p.Gln1472His) n.4785G>C | dbSNP |
| 13 | g.32339140G= | CA2082815823 | BRCA2 | c.4785G= (p.Gln1595=) c.4416G= (p.Gln1472=) n.4785G= | |
| 13 | g.32339140G>T | CA16613977 | BRCA2 | c.4785G>T (p.Gln1595His) c.4416G>T (p.Gln1472His) n.4785G>T | ClinVar dbSNP |
| 13 | g.32339140_32339141delinsGA | CA2082815827 | BRCA2 | c.4785_4786delinsGA (p.Gln1595=) c.4416_4417delinsGA (p.Gln1472=) n.4785_4786delinsGA | |
| 13 | g.32339141A>C | CA387783224 | BRCA2 | c.4786A>C (p.Asn1596His) c.4417A>C (p.Asn1473His) n.4786A>C | |
| 13 | g.32339141A>G | CA387783226 | BRCA2 | c.4786A>G (p.Asn1596Asp) c.4417A>G (p.Asn1473Asp) n.4786A>G | dbSNP |
| 13 | g.32339141A>T | CA387783227 | BRCA2 | c.4786A>T (p.Asn1596Tyr) c.4417A>T (p.Asn1473Tyr) n.4786A>T | dbSNP |
| 13 | g.32339142del | CA915948472 | BRCA2 | c.4787del (p.Asn1596IlefsTer21) c.4418del (p.Asn1473IlefsTer21) n.4787del | ClinVar dbSNP |
| 13 | g.32339142A>C | CA387783230 | BRCA2 | c.4787A>C (p.Asn1596Thr) c.4418A>C (p.Asn1473Thr) n.4787A>C | dbSNP |
| 13 | g.32339142A>G | CA387783228 | BRCA2 | c.4787A>G (p.Asn1596Ser) c.4418A>G (p.Asn1473Ser) n.4787A>G | ClinVar dbSNP |
| 13 | g.32339142A>T | CA387783229 | BRCA2 | c.4787A>T (p.Asn1596Ile) c.4418A>T (p.Asn1473Ile) n.4787A>T | dbSNP COSMIC COSMIC |
| 13 | g.32339143T>A | CA387783231 | BRCA2 | c.4788T>A (p.Asn1596Lys) c.4419T>A (p.Asn1473Lys) n.4788T>A | |
| 13 | g.32339143T>C | CA483438329 | BRCA2 | c.4788T>C (p.Asn1596=) c.4419T>C (p.Asn1473=) n.4788T>C | |
| 13 | g.32339143T>G | CA387783232 | BRCA2 | c.4788T>G (p.Asn1596Lys) c.4419T>G (p.Asn1473Lys) n.4788T>G | |
| 13 | g.32339144T>A | CA387783233 | BRCA2 | c.4789T>A (p.Ser1597Thr) c.4420T>A (p.Ser1474Thr) n.4789T>A | dbSNP |
| 13 | g.32339144T>C | CA387783234 | BRCA2 | c.4789T>C (p.Ser1597Pro) c.4420T>C (p.Ser1474Pro) n.4789T>C | |
| 13 | g.32339144T>G | CA387783235 | BRCA2 | c.4789T>G (p.Ser1597Ala) c.4420T>G (p.Ser1474Ala) n.4789T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339144T= | CA2082815841 | BRCA2 | c.4789T= (p.Ser1597=) c.4420T= (p.Ser1474=) n.4789T= | |
| 13 | g.32339148_32339149del | CA2580614690 | BRCA2 | c.4793_4794del (p.Leu1598GlnfsTer2) c.4424_4425del (p.Leu1475GlnfsTer2) n.4793_4794del | ClinVar dbSNP |
| 13 | g.32339145del | CA2573149281 | BRCA2 | c.4790del (p.Ser1597PhefsTer20) c.4421del (p.Ser1474PhefsTer20) n.4790del | ClinVar dbSNP |
| 13 | g.32339145C>A | CA387783236 | BRCA2 | c.4790C>A (p.Ser1597Tyr) c.4421C>A (p.Ser1474Tyr) n.4790C>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32339145C= | CA2082815856 | BRCA2 | c.4790C= (p.Ser1597=) c.4421C= (p.Ser1474=) n.4790C= | |
| 13 | g.32339145C>G | CA10579632 | BRCA2 | c.4790C>G (p.Ser1597Cys) c.4421C>G (p.Ser1474Cys) n.4790C>G | ClinVar dbSNP |
| 13 | g.32339145C>T | CA387783237 | BRCA2 | c.4790C>T (p.Ser1597Phe) c.4421C>T (p.Ser1474Phe) n.4790C>T | ClinVar dbSNP |
| 13 | g.32339146T>A | CA483438333 | BRCA2 | c.4791T>A (p.Ser1597=) c.4422T>A (p.Ser1474=) n.4791T>A | dbSNP |
| 13 | g.32339146T>C | CA020836 | BRCA2 | c.4791T>C (p.Ser1597=) c.4422T>C (p.Ser1474=) n.4791T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339146T>G | CA483438334 | BRCA2 | c.4791T>G (p.Ser1597=) c.4422T>G (p.Ser1474=) n.4791T>G | |
| 13 | g.32339146T= | CA2082815867 | BRCA2 | c.4791T= (p.Ser1597=) c.4422T= (p.Ser1474=) n.4791T= | |
| 13 | g.32339147C>A | CA387783238 | BRCA2 | c.4792C>A (p.Leu1598Ile) c.4423C>A (p.Leu1475Ile) n.4792C>A | dbSNP |
| 13 | g.32339147C>G | CA387783239 | BRCA2 | c.4792C>G (p.Leu1598Val) c.4423C>G (p.Leu1475Val) n.4792C>G | ClinVar dbSNP |
| 13 | g.32339147C>T | CA387783240 | BRCA2 | c.4792C>T (p.Leu1598Phe) c.4423C>T (p.Leu1475Phe) n.4792C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32339147_32339151delinsCTCAA | CA2082815876 | BRCA2 | c.4792_4796delinsCTCAA (p.Leu1598=) c.4423_4427delinsCTCAA (p.Leu1475=) n.4792_4796delinsCTCAA | |
| 13 | g.32339148del | CA2499222179 | BRCA2 | c.4793del (p.Leu1598ProfsTer19) c.4424del (p.Leu1475ProfsTer19) n.4793del | ClinVar |
| 13 | g.32339148T>A | CA387783243 | BRCA2 | c.4793T>A (p.Leu1598His) c.4424T>A (p.Leu1475His) n.4793T>A | dbSNP |
| 13 | g.32339148T>C | CA387783242 | BRCA2 | c.4793T>C (p.Leu1598Pro) c.4424T>C (p.Leu1475Pro) n.4793T>C | dbSNP |
| 13 | g.32339148T>G | CA387783241 | BRCA2 | c.4793T>G (p.Leu1598Arg) c.4424T>G (p.Leu1475Arg) n.4793T>G | |
| 13 | g.32339149_32339152del | CA6940812 | BRCA2 | c.4794_4797del (p.Asn1599MetfsTer17) c.4425_4428del (p.Asn1476MetfsTer17) n.4794_4797del | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32339149C>A | CA483438339 | BRCA2 | c.4794C>A (p.Leu1598=) c.4425C>A (p.Leu1475=) n.4794C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339149C= | CA2082815899 | BRCA2 | c.4794C= (p.Leu1598=) c.4425C= (p.Leu1475=) n.4794C= | |
| 13 | g.32339149C>G | CA483438340 | BRCA2 | c.4794C>G (p.Leu1598=) c.4425C>G (p.Leu1475=) n.4794C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339149C>T | CA483438338 | BRCA2 | c.4794C>T (p.Leu1598=) c.4425C>T (p.Leu1475=) n.4794C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339149_32339152delinsCAAT | CA2082815893 | BRCA2 | c.4794_4797delinsCAAT (p.Leu1598=) c.4425_4428delinsCAAT (p.Leu1475=) n.4794_4797delinsCAAT | |
| 13 | g.32339150A= | CA2082815908 | BRCA2 | c.4795A= (p.Asn1599=) c.4426A= (p.Asn1476=) n.4795A= | |
| 13 | g.32339150A>C | CA387783245 | BRCA2 | c.4795A>C (p.Asn1599His) c.4426A>C (p.Asn1476His) n.4795A>C | |
| 13 | g.32339150A>G | CA020839 | BRCA2 | c.4795A>G (p.Asn1599Asp) c.4426A>G (p.Asn1476Asp) n.4795A>G | ClinVar dbSNP |
| 13 | g.32339150A>T | CA387783244 | BRCA2 | c.4795A>T (p.Asn1599Tyr) c.4426A>T (p.Asn1476Tyr) n.4795A>T | dbSNP |
| 13 | g.32339153_32339155del | CA020845 | BRCA2 | c.4798_4800del (p.Asn1600del) c.4429_4431del (p.Asn1477del) n.4798_4800del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339151A= | CA2082815919 | BRCA2 | c.4796A= (p.Asn1599=) c.4427A= (p.Asn1476=) n.4796A= | |
| 13 | g.32339151A>C | CA387783246 | BRCA2 | c.4796A>C (p.Asn1599Thr) c.4427A>C (p.Asn1476Thr) n.4796A>C | |
| 13 | g.32339151A>G | CA10579633 | BRCA2 | c.4796A>G (p.Asn1599Ser) c.4427A>G (p.Asn1476Ser) n.4796A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339151A>T | CA387783247 | BRCA2 | c.4796A>T (p.Asn1599Ile) c.4427A>T (p.Asn1476Ile) n.4796A>T | |
| 13 | g.32339151_32339152delinsAT | CA2082815916 | BRCA2 | c.4796_4797delinsAT (p.Asn1599=) c.4427_4428delinsAT (p.Asn1476=) n.4796_4797delinsAT | |
| 13 | g.32339152del | CA020842 | BRCA2 | c.4797del (p.Asn1599LysfsTer18) c.4428del (p.Asn1476LysfsTer18) n.4797del | ClinVar dbSNP |
| 13 | g.32339152T>A | CA387783248 | BRCA2 | c.4797T>A (p.Asn1599Lys) c.4428T>A (p.Asn1476Lys) n.4797T>A | |
| 13 | g.32339152T>C | CA6940813 | BRCA2 | c.4797T>C (p.Asn1599=) c.4428T>C (p.Asn1476=) n.4797T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339152T>G | CA387783249 | BRCA2 | c.4797T>G (p.Asn1599Lys) c.4428T>G (p.Asn1476Lys) n.4797T>G | |
| 13 | g.32339152T= | CA2082815934 | BRCA2 | c.4797T= (p.Asn1599=) c.4428T= (p.Asn1476=) n.4797T= | |
| 13 | g.32339152_32339153delinsTA | CA2082815932 | BRCA2 | c.4797_4798delinsTA (p.Asn1599=) c.4428_4429delinsTA (p.Asn1476=) n.4797_4798delinsTA | |
| 13 | g.32339153A= | CA2082815963 | BRCA2 | c.4798A= (p.Asn1600=) c.4429A= (p.Asn1477=) n.4798A= | |
| 13 | g.32339153A>C | CA387783250 | BRCA2 | c.4798A>C (p.Asn1600His) c.4429A>C (p.Asn1477His) n.4798A>C | ClinVar dbSNP |
| 13 | g.32339153A>G | CA6940814 | BRCA2 | c.4798A>G (p.Asn1600Asp) c.4429A>G (p.Asn1477Asp) n.4798A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339153A>T | CA387783251 | BRCA2 | c.4798A>T (p.Asn1600Tyr) c.4429A>T (p.Asn1477Tyr) n.4798A>T | dbSNP |
| 13 | g.32339154del | CA10589274 | BRCA2 | c.4799del (p.Asn1600MetfsTer17) c.4430del (p.Asn1477MetfsTer17) n.4799del | ClinVar dbSNP |
| 13 | g.32339153_32339156delinsAATG | CA2082815960 | BRCA2 | c.4798_4801delinsAATG (p.Asn1600=) c.4429_4432delinsAATG (p.Asn1477=) n.4798_4801delinsAATG | |
| 13 | g.32339154A>C | CA387783254 | BRCA2 | c.4799A>C (p.Asn1600Thr) c.4430A>C (p.Asn1477Thr) n.4799A>C | |
| 13 | g.32339154A>G | CA387783252 | BRCA2 | c.4799A>G (p.Asn1600Ser) c.4430A>G (p.Asn1477Ser) n.4799A>G | |
| 13 | g.32339154A>T | CA387783253 | BRCA2 | c.4799A>T (p.Asn1600Ile) c.4430A>T (p.Asn1477Ile) n.4799A>T | dbSNP |
| 13 | g.32339155_32339156insTAT | CA609453779 | BRCA2 | c.4800_4801insTAT (p.Asn1600_Asp1601insTyr) c.4431_4432insTAT (p.Asn1477_Asp1478insTyr) n.4800_4801insTAT | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339156_32339158del | CA020849 | BRCA2 | c.4801_4803del (p.Asp1601del) c.4432_4434del (p.Asp1478del) n.4801_4803del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339155T>A | CA387783255 | BRCA2 | c.4800T>A (p.Asn1600Lys) c.4431T>A (p.Asn1477Lys) n.4800T>A | dbSNP |
| 13 | g.32339155T>C | CA483438347 | BRCA2 | c.4800T>C (p.Asn1600=) c.4431T>C (p.Asn1477=) n.4800T>C | dbSNP |
| 13 | g.32339155T>G | CA387783256 | BRCA2 | c.4800T>G (p.Asn1600Lys) c.4431T>G (p.Asn1477Lys) n.4800T>G | ClinVar dbSNP |
| 13 | g.32339155T= | CA2082815989 | BRCA2 | c.4800T= (p.Asn1600=) c.4431T= (p.Asn1477=) n.4800T= | |
| 13 | g.32339156G>A | CA387783257 | BRCA2 | c.4801G>A (p.Asp1601Asn) c.4432G>A (p.Asp1478Asn) n.4801G>A | dbSNP |
| 13 | g.32339156G>C | CA6940815 | BRCA2 | c.4801G>C (p.Asp1601His) c.4432G>C (p.Asp1478His) n.4801G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339156G= | CA2082816000 | BRCA2 | c.4801G= (p.Asp1601=) c.4432G= (p.Asp1478=) n.4801G= | |
| 13 | g.32339156G>T | CA387783258 | BRCA2 | c.4801G>T (p.Asp1601Tyr) c.4432G>T (p.Asp1478Tyr) n.4801G>T | dbSNP gnomAD v4 |
| 13 | g.32339157A= | CA2082816012 | BRCA2 | c.4802A= (p.Asp1601=) c.4433A= (p.Asp1478=) n.4802A= | |
| 13 | g.32339157A>C | CA387783259 | BRCA2 | c.4802A>C (p.Asp1601Ala) c.4433A>C (p.Asp1478Ala) n.4802A>C | |
| 13 | g.32339157A>G | CA020852 | BRCA2 | c.4802A>G (p.Asp1601Gly) c.4433A>G (p.Asp1478Gly) n.4802A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339157A>T | CA387783260 | BRCA2 | c.4802A>T (p.Asp1601Val) c.4433A>T (p.Asp1478Val) n.4802A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339158T>A | CA387783261 | BRCA2 | c.4803T>A (p.Asp1601Glu) c.4434T>A (p.Asp1478Glu) n.4803T>A | dbSNP |
| 13 | g.32339158T>C | CA6940816 | BRCA2 | c.4803T>C (p.Asp1601=) c.4434T>C (p.Asp1478=) n.4803T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339158T>G | CA387783262 | BRCA2 | c.4803T>G (p.Asp1601Glu) c.4434T>G (p.Asp1478Glu) n.4803T>G | ClinVar dbSNP |
| 13 | g.32339158T= | CA2082816028 | BRCA2 | c.4803T= (p.Asp1601=) c.4434T= (p.Asp1478=) n.4803T= | |
| 13 | g.32339158dup | CA1139663216 | BRCA2 | c.4803dup (p.Lys1602Ter) c.4434dup (p.Lys1479Ter) n.4803dup | ClinVar dbSNP |
| 13 | g.32339158_32339159delinsTA | CA2082816029 | BRCA2 | c.4803_4804delinsTA (p.Asp1601=) c.4434_4435delinsTA (p.Asp1478=) n.4803_4804delinsTA | |
| 13 | g.32339159A= | CA2082816056 | BRCA2 | c.4804A= (p.Lys1602=) c.4435A= (p.Lys1479=) n.4804A= | |
| 13 | g.32339159A>C | CA387783263 | BRCA2 | c.4804A>C (p.Lys1602Gln) c.4435A>C (p.Lys1479Gln) n.4804A>C | dbSNP |
| 13 | g.32339159A>G | CA387783264 | BRCA2 | c.4804A>G (p.Lys1602Glu) c.4435A>G (p.Lys1479Glu) n.4804A>G | ClinVar dbSNP |
| 13 | g.32339159A>T | CA387783265 | BRCA2 | c.4804A>T (p.Lys1602Ter) c.4435A>T (p.Lys1479Ter) n.4804A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339163dup | CA020855 | BRCA2 | c.4808dup (p.Asn1603LysfsTer6) c.4439dup (p.Asn1480LysfsTer6) n.4808dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339163del | CA020858 | BRCA2 | c.4808del (p.Asn1603ThrfsTer14) c.4439del (p.Asn1480ThrfsTer14) n.4808del | ClinVar dbSNP |
| 13 | g.32339161_32339163del | CA2573149282 | BRCA2 | c.4806_4808del (p.Lys1602del) c.4437_4439del (p.Lys1479del) n.4806_4808del | ClinVar dbSNP |
| 13 | g.32339159_32339160insT | CA2499222180 | BRCA2 | c.4804_4805insT (p.Lys1602IlefsTer7) c.4435_4436insT (p.Lys1479IlefsTer7) n.4804_4805insT | |
| 13 | g.32339160A>C | CA387783266 | BRCA2 | c.4805A>C (p.Lys1602Thr) c.4436A>C (p.Lys1479Thr) n.4805A>C | |
| 13 | g.32339160A>G | CA387783267 | BRCA2 | c.4805A>G (p.Lys1602Arg) c.4436A>G (p.Lys1479Arg) n.4805A>G | dbSNP |
| 13 | g.32339160A>T | CA387783268 | BRCA2 | c.4805A>T (p.Lys1602Ile) c.4436A>T (p.Lys1479Ile) n.4805A>T | dbSNP |
| 13 | g.32339160_32339167del | CA2580087310 | BRCA2 | c.4805_4812del (p.Lys1602SerfsTer4) c.4436_4443del (p.Lys1479SerfsTer4) n.4805_4812del | ClinVar |
| 13 | g.32339161A>C | CA387783269 | BRCA2 | c.4806A>C (p.Lys1602Asn) c.4437A>C (p.Lys1479Asn) n.4806A>C | |
| 13 | g.32339161A>G | CA483438349 | BRCA2 | c.4806A>G (p.Lys1602=) c.4437A>G (p.Lys1479=) n.4806A>G | |
| 13 | g.32339161A>T | CA387783270 | BRCA2 | c.4806A>T (p.Lys1602Asn) c.4437A>T (p.Lys1479Asn) n.4806A>T | dbSNP |
| 13 | g.32339162A>C | CA387783271 | BRCA2 | c.4807A>C (p.Asn1603His) c.4438A>C (p.Asn1480His) n.4807A>C | |
| 13 | g.32339162A>G | CA387783272 | BRCA2 | c.4807A>G (p.Asn1603Asp) c.4438A>G (p.Asn1480Asp) n.4807A>G | |
| 13 | g.32339162A>T | CA387783273 | BRCA2 | c.4807A>T (p.Asn1603Tyr) c.4438A>T (p.Asn1480Tyr) n.4807A>T | dbSNP |
| 13 | g.32339163A= | CA2082816062 | BRCA2 | c.4808A= (p.Asn1603=) c.4439A= (p.Asn1480=) n.4808A= | |
| 13 | g.32339163A>C | CA387783274 | BRCA2 | c.4808A>C (p.Asn1603Thr) c.4439A>C (p.Asn1480Thr) n.4808A>C | ClinVar dbSNP |
| 13 | g.32339163A>G | CA387783275 | BRCA2 | c.4808A>G (p.Asn1603Ser) c.4439A>G (p.Asn1480Ser) n.4808A>G | ClinVar dbSNP |
| 13 | g.32339163A>T | CA247508443 | BRCA2 | c.4808A>T (p.Asn1603Ile) c.4439A>T (p.Asn1480Ile) n.4808A>T | ClinVar dbSNP |
| 13 | g.32339164C>A | CA387783276 | BRCA2 | c.4809C>A (p.Asn1603Lys) c.4440C>A (p.Asn1480Lys) n.4809C>A | ClinVar dbSNP |
| 13 | g.32339164C= | CA2082816076 | BRCA2 | c.4809C= (p.Asn1603=) c.4440C= (p.Asn1480=) n.4809C= | |
| 13 | g.32339164C>G | CA387783277 | BRCA2 | c.4809C>G (p.Asn1603Lys) c.4440C>G (p.Asn1480Lys) n.4809C>G | |
| 13 | g.32339164C>T | CA483438354 | BRCA2 | c.4809C>T (p.Asn1603=) c.4440C>T (p.Asn1480=) n.4809C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32339165dup | CA658798097 | BRCA2 | c.4810dup (p.Leu1604ProfsTer5) c.4441dup (p.Leu1481ProfsTer5) n.4810dup | ClinVar dbSNP |
| 13 | g.32339165del | CA2622599630 | BRCA2 | c.4810del (p.Val1605PhefsTer12) c.4441del (p.Val1482PhefsTer12) n.4810del | gnomAD v4 |
| 13 | g.32339164_32339165insA | CA020862 | BRCA2 | c.4809_4810insA (p.Leu1604ThrfsTer5) c.4440_4441insA (p.Leu1481ThrfsTer5) n.4809_4810insA | ClinVar dbSNP |
| 13 | g.32339165C>A | CA387783278 | BRCA2 | c.4810C>A (p.Leu1604Ile) c.4441C>A (p.Leu1481Ile) n.4810C>A | dbSNP |
| 13 | g.32339165C= | CA2082816094 | BRCA2 | c.4810C= (p.Leu1604=) c.4441C= (p.Leu1481=) n.4810C= | |
| 13 | g.32339165C>G | CA387783279 | BRCA2 | c.4810C>G (p.Leu1604Val) c.4441C>G (p.Leu1481Val) n.4810C>G | ClinVar dbSNP |
| 13 | g.32339165C>T | CA6940817 | BRCA2 | c.4810C>T (p.Leu1604Phe) c.4441C>T (p.Leu1481Phe) n.4810C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339166T>A | CA387783280 | BRCA2 | c.4811T>A (p.Leu1604His) c.4442T>A (p.Leu1481His) n.4811T>A | dbSNP |
| 13 | g.32339166T>C | CA387783281 | BRCA2 | c.4811T>C (p.Leu1604Pro) c.4442T>C (p.Leu1481Pro) n.4811T>C | ClinVar |
| 13 | g.32339166T>G | CA387783282 | BRCA2 | c.4811T>G (p.Leu1604Arg) c.4442T>G (p.Leu1481Arg) n.4811T>G | |
| 13 | g.32339167del | CA2580087312 | BRCA2 | c.4812del (p.Val1605PhefsTer12) c.4443del (p.Val1482PhefsTer12) n.4812del | ClinVar |
| 13 | g.32339167T>A | CA483438355 | BRCA2 | c.4812T>A (p.Leu1604=) c.4443T>A (p.Leu1481=) n.4812T>A | dbSNP |
| 13 | g.32339167T>C | CA483438356 | BRCA2 | c.4812T>C (p.Leu1604=) c.4443T>C (p.Leu1481=) n.4812T>C | ClinVar |
| 13 | g.32339167T>G | CA483438358 | BRCA2 | c.4812T>G (p.Leu1604=) c.4443T>G (p.Leu1481=) n.4812T>G | |
| 13 | g.32339168G>A | CA020865 | BRCA2 | c.4813G>A (p.Val1605Ile) c.4444G>A (p.Val1482Ile) n.4813G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339168G>C | CA387783283 | BRCA2 | c.4813G>C (p.Val1605Leu) c.4444G>C (p.Val1482Leu) n.4813G>C | |
| 13 | g.32339168G= | CA2082816112 | BRCA2 | c.4813G= (p.Val1605=) c.4444G= (p.Val1482=) n.4813G= | |
| 13 | g.32339168G>T | CA387783284 | BRCA2 | c.4813G>T (p.Val1605Phe) c.4444G>T (p.Val1482Phe) n.4813G>T | |
| 13 | g.32339169T>A | CA387783286 | BRCA2 | c.4814T>A (p.Val1605Asp) c.4445T>A (p.Val1482Asp) n.4814T>A | dbSNP |
| 13 | g.32339169T>C | CA349454 | BRCA2 | c.4814T>C (p.Val1605Ala) c.4445T>C (p.Val1482Ala) n.4814T>C | ClinVar dbSNP |
| 13 | g.32339169T>G | CA387783285 | BRCA2 | c.4814T>G (p.Val1605Gly) c.4445T>G (p.Val1482Gly) n.4814T>G | dbSNP |
| 13 | g.32339169T= | CA2082816125 | BRCA2 | c.4814T= (p.Val1605=) c.4445T= (p.Val1482=) n.4814T= | |
| 13 | g.32339169_32339174delinsTTTCTA | CA2082816130 | BRCA2 | c.4814_4819delinsTTTCTA (p.Val1605=) c.4445_4450delinsTTTCTA (p.Val1482=) n.4814_4819delinsTTTCTA | |
| 13 | g.32339170T>A | CA483438363 | BRCA2 | c.4815T>A (p.Val1605=) c.4446T>A (p.Val1482=) n.4815T>A | dbSNP |
| 13 | g.32339170T>C | CA483438364 | BRCA2 | c.4815T>C (p.Val1605=) c.4446T>C (p.Val1482=) n.4815T>C | ClinVar dbSNP |
| 13 | g.32339170T>G | CA483438365 | BRCA2 | c.4815T>G (p.Val1605=) c.4446T>G (p.Val1482=) n.4815T>G | |
| 13 | g.32339172_32339176del | CA915948473 | BRCA2 | c.4817_4821del (p.Ser1606Ter) c.4448_4452del (p.Ser1483Ter) n.4817_4821del | ClinVar dbSNP |
| 13 | g.32339171T>A | CA387783287 | BRCA2 | c.4816T>A (p.Ser1606Thr) c.4447T>A (p.Ser1483Thr) n.4816T>A | dbSNP |
| 13 | g.32339171T>C | CA387783288 | BRCA2 | c.4816T>C (p.Ser1606Pro) c.4447T>C (p.Ser1483Pro) n.4816T>C | |
| 13 | g.32339171T>G | CA387783289 | BRCA2 | c.4816T>G (p.Ser1606Ala) c.4447T>G (p.Ser1483Ala) n.4816T>G | |
| 13 | g.32339172_32339173del | CA2580087313 | BRCA2 | c.4817_4818del (p.Ser1606TyrfsTer2) c.4448_4449del (p.Ser1483TyrfsTer2) n.4817_4818del | ClinVar |
| 13 | g.32339172del | CA2695199687 | BRCA2 | c.4817del (p.Ser1606LeufsTer11) c.4448del (p.Ser1483LeufsTer11) n.4817del | ClinVar |
| 13 | g.32339172C>A | CA387783290 | BRCA2 | c.4817C>A (p.Ser1606Tyr) c.4448C>A (p.Ser1483Tyr) n.4817C>A | dbSNP |
| 13 | g.32339172C= | CA2082816141 | BRCA2 | c.4817C= (p.Ser1606=) c.4448C= (p.Ser1483=) n.4817C= | |
| 13 | g.32339172C>G | CA10579634 | BRCA2 | c.4817C>G (p.Ser1606Cys) c.4448C>G (p.Ser1483Cys) n.4817C>G | ClinVar dbSNP |
| 13 | g.32339172C>T | CA387783291 | BRCA2 | c.4817C>T (p.Ser1606Phe) c.4448C>T (p.Ser1483Phe) n.4817C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339173T>A | CA483438367 | BRCA2 | c.4818T>A (p.Ser1606=) c.4449T>A (p.Ser1483=) n.4818T>A | dbSNP |
| 13 | g.32339173T>C | CA483438368 | BRCA2 | c.4818T>C (p.Ser1606=) c.4449T>C (p.Ser1483=) n.4818T>C | ClinVar dbSNP |
| 13 | g.32339173T>G | CA483438369 | BRCA2 | c.4818T>G (p.Ser1606=) c.4449T>G (p.Ser1483=) n.4818T>G | |
| 13 | g.32339173T= | CA2082816145 | BRCA2 | c.4818T= (p.Ser1606=) c.4449T= (p.Ser1483=) n.4818T= | |
| 13 | g.32339174A= | CA2082816150 | BRCA2 | c.4819A= (p.Ile1607=) c.4450A= (p.Ile1484=) n.4819A= | |
| 13 | g.32339174A>C | CA387783292 | BRCA2 | c.4819A>C (p.Ile1607Leu) c.4450A>C (p.Ile1484Leu) n.4819A>C | ClinVar |
| 13 | g.32339174A>G | CA020868 | BRCA2 | c.4819A>G (p.Ile1607Val) c.4450A>G (p.Ile1484Val) n.4819A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339174A>T | CA387783293 | BRCA2 | c.4819A>T (p.Ile1607Phe) c.4450A>T (p.Ile1484Phe) n.4819A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339175T>A | CA387783294 | BRCA2 | c.4820T>A (p.Ile1607Asn) c.4451T>A (p.Ile1484Asn) n.4820T>A | dbSNP |
| 13 | g.32339175T>C | CA387783295 | BRCA2 | c.4820T>C (p.Ile1607Thr) c.4451T>C (p.Ile1484Thr) n.4820T>C | ClinVar dbSNP |
| 13 | g.32339175T>G | CA387783296 | BRCA2 | c.4820T>G (p.Ile1607Ser) c.4451T>G (p.Ile1484Ser) n.4820T>G | COSMIC COSMIC |
| 13 | g.32339175T= | CA2082816164 | BRCA2 | c.4820T= (p.Ile1607=) c.4451T= (p.Ile1484=) n.4820T= | |
| 13 | g.32339175_32339177delinsTTG | CA2082816162 | BRCA2 | c.4820_4822delinsTTG (p.Ile1607=) c.4451_4453delinsTTG (p.Ile1484=) n.4820_4822delinsTTG | |
| 13 | g.32339175_32339178delinsTTGA | CA2082816159 | BRCA2 | c.4820_4823delinsTTGA (p.Ile1607=) c.4451_4454delinsTTGA (p.Ile1484=) n.4820_4823delinsTTGA | |
| 13 | g.32339176T>A | CA483438371 | BRCA2 | c.4821T>A (p.Ile1607=) c.4452T>A (p.Ile1484=) n.4821T>A | |
| 13 | g.32339176T>C | CA483438372 | BRCA2 | c.4821T>C (p.Ile1607=) c.4452T>C (p.Ile1484=) n.4821T>C | ClinVar dbSNP |
| 13 | g.32339176T>G | CA387783297 | BRCA2 | c.4821T>G (p.Ile1607Met) c.4452T>G (p.Ile1484Met) n.4821T>G | |
| 13 | g.32339176_32339177del | CA6940818 | BRCA2 | c.4821_4822del (p.Glu1608AspfsTer6) c.4452_4453del (p.Glu1485AspfsTer6) n.4821_4822del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339176_32339178del | CA1139770407 | BRCA2 | c.4821_4823del (p.Ile1607_Glu1608delinsMet) c.4452_4454del (p.Ile1484_Glu1485delinsMet) n.4821_4823del | |
| 13 | g.32339176_32339178delinsC | CA020871 | BRCA2 | c.4821_4823delinsC (p.Glu1608AspfsTer6) c.4452_4454delinsC (p.Glu1485AspfsTer6) n.4821_4823delinsC | ClinVar dbSNP |
| 13 | g.32339176_32339178delinsTGA | CA2082816185 | BRCA2 | c.4821_4823delinsTGA (p.Ile1607=) c.4452_4454delinsTGA (p.Ile1484=) n.4821_4823delinsTGA | |
| 13 | g.32339177G>A | CA387783298 | BRCA2 | c.4822G>A (p.Glu1608Lys) c.4453G>A (p.Glu1485Lys) n.4822G>A | |
| 13 | g.32339177G>C | CA387783299 | BRCA2 | c.4822G>C (p.Glu1608Gln) c.4453G>C (p.Glu1485Gln) n.4822G>C | |
| 13 | g.32339177G= | CA2082816192 | BRCA2 | c.4822G= (p.Glu1608=) c.4453G= (p.Glu1485=) n.4822G= | |
| 13 | g.32339177G>T | CA387783300 | BRCA2 | c.4822G>T (p.Glu1608Ter) c.4453G>T (p.Glu1485Ter) n.4822G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339179_32339180del | CA020874 | BRCA2 | c.4824_4825del (p.Glu1608AspfsTer6) c.4455_4456del (p.Glu1485AspfsTer6) n.4824_4825del | ClinVar dbSNP |
| 13 | g.32339178A= | CA2082816201 | BRCA2 | c.4823A= (p.Glu1608=) c.4454A= (p.Glu1485=) n.4823A= | |
| 13 | g.32339178A>C | CA6940819 | BRCA2 | c.4823A>C (p.Glu1608Ala) c.4454A>C (p.Glu1485Ala) n.4823A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339178A>G | CA387783301 | BRCA2 | c.4823A>G (p.Glu1608Gly) c.4454A>G (p.Glu1485Gly) n.4823A>G | ClinVar dbSNP |
| 13 | g.32339178A>T | CA387783302 | BRCA2 | c.4823A>T (p.Glu1608Val) c.4454A>T (p.Glu1485Val) n.4823A>T | dbSNP |
| 13 | g.32339179G>A | CA483438375 | BRCA2 | c.4824G>A (p.Glu1608=) c.4455G>A (p.Glu1485=) n.4824G>A | dbSNP |
| 13 | g.32339179G>C | CA387783303 | BRCA2 | c.4824G>C (p.Glu1608Asp) c.4455G>C (p.Glu1485Asp) n.4824G>C | dbSNP |
| 13 | g.32339179G>T | CA387783304 | BRCA2 | c.4824G>T (p.Glu1608Asp) c.4455G>T (p.Glu1485Asp) n.4824G>T | dbSNP |
| 13 | g.32339180A= | CA2082816212 | BRCA2 | c.4825A= (p.Thr1609=) c.4456A= (p.Thr1486=) n.4825A= | |
| 13 | g.32339180A>C | CA387783305 | BRCA2 | c.4825A>C (p.Thr1609Pro) c.4456A>C (p.Thr1486Pro) n.4825A>C | gnomAD v4 |
| 13 | g.32339180A>G | CA10579635 | BRCA2 | c.4825A>G (p.Thr1609Ala) c.4456A>G (p.Thr1486Ala) n.4825A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339180A>T | CA387783306 | BRCA2 | c.4825A>T (p.Thr1609Ser) c.4456A>T (p.Thr1486Ser) n.4825A>T | ClinVar dbSNP |
| 13 | g.32339182_32339192del | CA16621946 | BRCA2 | c.4827_4837del (p.Val1610Ter) c.4458_4468del (p.Val1487Ter) n.4827_4837del | |
| 13 | g.32339181C>A | CA387783309 | BRCA2 | c.4826C>A (p.Thr1609Asn) c.4457C>A (p.Thr1486Asn) n.4826C>A | dbSNP gnomAD v4 |
| 13 | g.32339181C= | CA2082816222 | BRCA2 | c.4826C= (p.Thr1609=) c.4457C= (p.Thr1486=) n.4826C= | |
| 13 | g.32339181C>G | CA387783308 | BRCA2 | c.4826C>G (p.Thr1609Ser) c.4457C>G (p.Thr1486Ser) n.4826C>G | ClinVar dbSNP |
| 13 | g.32339181C>T | CA387783307 | BRCA2 | c.4826C>T (p.Thr1609Ile) c.4457C>T (p.Thr1486Ile) n.4826C>T | dbSNP |
| 13 | g.32339181_32339183delinsCTG | CA2082816221 | BRCA2 | c.4826_4828delinsCTG (p.Thr1609=) c.4457_4459delinsCTG (p.Thr1486=) n.4826_4828delinsCTG | |
| 13 | g.32339182T>A | CA483438381 | BRCA2 | c.4827T>A (p.Thr1609=) c.4458T>A (p.Thr1486=) n.4827T>A | dbSNP |
| 13 | g.32339182T>C | CA483438380 | BRCA2 | c.4827T>C (p.Thr1609=) c.4458T>C (p.Thr1486=) n.4827T>C | dbSNP |
| 13 | g.32339182T>G | CA483438379 | BRCA2 | c.4827T>G (p.Thr1609=) c.4458T>G (p.Thr1486=) n.4827T>G | |
| 13 | g.32339182T= | CA2082816229 | BRCA2 | c.4827T= (p.Thr1609=) c.4458T= (p.Thr1486=) n.4827T= | |
| 13 | g.32339184_32339185del | CA020883 | BRCA2 | c.4829_4830del (p.Val1610GlyfsTer4) c.4460_4461del (p.Val1487GlyfsTer4) n.4829_4830del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339183G>A | CA020880 | BRCA2 | c.4828G>A (p.Val1610Met) c.4459G>A (p.Val1487Met) n.4828G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339183G>C | CA387783312 | BRCA2 | c.4828G>C (p.Val1610Leu) c.4459G>C (p.Val1487Leu) n.4828G>C | ClinVar dbSNP |
| 13 | g.32339183G= | CA2082816245 | BRCA2 | c.4828G= (p.Val1610=) c.4459G= (p.Val1487=) n.4828G= | |
| 13 | g.32339183G>T | CA387783313 | BRCA2 | c.4828G>T (p.Val1610Leu) c.4459G>T (p.Val1487Leu) n.4828G>T | |
| 13 | g.32339183dup | CA020877 | BRCA2 | c.4828dup (p.Val1610GlyfsTer5) c.4459dup (p.Val1487GlyfsTer5) n.4828dup | ClinVar dbSNP |
| 13 | g.32339184T>A | CA387783316 | BRCA2 | c.4829T>A (p.Val1610Glu) c.4460T>A (p.Val1487Glu) n.4829T>A | ClinVar dbSNP |
| 13 | g.32339184T>C | CA387783318 | BRCA2 | c.4829T>C (p.Val1610Ala) c.4460T>C (p.Val1487Ala) n.4829T>C | |
| 13 | g.32339184T>G | CA387783315 | BRCA2 | c.4829T>G (p.Val1610Gly) c.4460T>G (p.Val1487Gly) n.4829T>G | |
| 13 | g.32339184T= | CA2082816260 | BRCA2 | c.4829T= (p.Val1610=) c.4460T= (p.Val1487=) n.4829T= | |
| 13 | g.32339185G>A | CA020887 | BRCA2 | c.4830G>A (p.Val1610=) c.4461G>A (p.Val1487=) n.4830G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339185G>C | CA483438382 | BRCA2 | c.4830G>C (p.Val1610=) c.4461G>C (p.Val1487=) n.4830G>C | dbSNP |
| 13 | g.32339185G= | CA2082816270 | BRCA2 | c.4830G= (p.Val1610=) c.4461G= (p.Val1487=) n.4830G= | |
| 13 | g.32339185G>T | CA020890 | BRCA2 | c.4830G>T (p.Val1610=) c.4461G>T (p.Val1487=) n.4830G>T | ClinVar dbSNP |
| 13 | g.32339186G>A | CA387783321 | BRCA2 | c.4831G>A (p.Val1611Met) c.4462G>A (p.Val1488Met) n.4831G>A | ClinVar dbSNP |
| 13 | g.32339186G>C | CA387783323 | BRCA2 | c.4831G>C (p.Val1611Leu) c.4462G>C (p.Val1488Leu) n.4831G>C | dbSNP |
| 13 | g.32339186G= | CA2082816277 | BRCA2 | c.4831G= (p.Val1611=) c.4462G= (p.Val1488=) n.4831G= | |
| 13 | g.32339186G>T | CA387783324 | BRCA2 | c.4831G>T (p.Val1611Leu) c.4462G>T (p.Val1488Leu) n.4831G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339187T>A | CA387783326 | BRCA2 | c.4832T>A (p.Val1611Glu) c.4463T>A (p.Val1488Glu) n.4832T>A | dbSNP |
| 13 | g.32339187T>C | CA387783327 | BRCA2 | c.4832T>C (p.Val1611Ala) c.4463T>C (p.Val1488Ala) n.4832T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339187T>G | CA387783328 | BRCA2 | c.4832T>G (p.Val1611Gly) c.4463T>G (p.Val1488Gly) n.4832T>G | dbSNP |
| 13 | g.32339187T= | CA2082816285 | BRCA2 | c.4832T= (p.Val1611=) c.4463T= (p.Val1488=) n.4832T= | |
| 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 |