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.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.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 | |
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 |