Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339007_32339011delinsAAGGT | CA2082814437 | BRCA2 | c.4652_4656delinsAAGGT (p.Gln1551=) c.4283_4287delinsAAGGT (p.Gln1428=) n.4652_4656delinsAAGGT | |
13 | g.32339009_32339012del | CA658823609 | BRCA2 | c.4654_4657del (p.Gly1552LeufsTer15) c.4285_4288del (p.Gly1429LeufsTer15) n.4654_4657del | ClinVar dbSNP |
13 | g.32339011T>A | CA483438080 | BRCA2 | c.4656T>A (p.Gly1552=) c.4287T>A (p.Gly1429=) n.4656T>A | dbSNP |
13 | g.32339011T>C | CA020602 | BRCA2 | c.4656T>C (p.Gly1552=) c.4287T>C (p.Gly1429=) n.4656T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339011T>G | CA483438081 | BRCA2 | c.4656T>G (p.Gly1552=) c.4287T>G (p.Gly1429=) n.4656T>G | dbSNP |
13 | g.32339011T= | CA2082814493 | BRCA2 | c.4656T= (p.Gly1552=) c.4287T= (p.Gly1429=) n.4656T= | |
13 | g.32339011_32339013delinsTAC | CA2082814494 | BRCA2 | c.4656_4658delinsTAC (p.Gly1552=) c.4287_4289delinsTAC (p.Gly1429=) n.4656_4658delinsTAC | |
13 | g.32339012A>C | CA387782734 | BRCA2 | c.4657A>C (p.Thr1553Pro) c.4288A>C (p.Thr1430Pro) n.4657A>C | dbSNP |
13 | g.32339012A>G | CA387782736 | BRCA2 | c.4657A>G (p.Thr1553Ala) c.4288A>G (p.Thr1430Ala) n.4657A>G | ClinVar |
13 | g.32339012A>T | CA387782737 | BRCA2 | c.4657A>T (p.Thr1553Ser) c.4288A>T (p.Thr1430Ser) n.4657A>T | dbSNP |
13 | g.32339012_32339013del | CA919242621 | BRCA2 | c.4657_4658del (p.Thr1553Ter) c.4288_4289del (p.Thr1430Ter) n.4657_4658del | ClinVar dbSNP |
13 | g.32339014_32339025del | CA2580614686 | BRCA2 | c.4659_4670del (p.Ser1554_Thr1557del) c.4290_4301del (p.Ser1431_Thr1434del) n.4659_4670del | ClinVar |
13 | g.32339013C>A | CA387782740 | BRCA2 | c.4658C>A (p.Thr1553Asn) c.4289C>A (p.Thr1430Asn) n.4658C>A | |
13 | g.32339013C= | CA2082814509 | BRCA2 | c.4658C= (p.Thr1553=) c.4289C= (p.Thr1430=) n.4658C= | |
13 | g.32339013C>G | CA6940804 | BRCA2 | c.4658C>G (p.Thr1553Ser) c.4289C>G (p.Thr1430Ser) n.4658C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339013C>T | CA020606 | BRCA2 | c.4658C>T (p.Thr1553Ile) c.4289C>T (p.Thr1430Ile) n.4658C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339014T>A | CA483438084 | BRCA2 | c.4659T>A (p.Thr1553=) c.4290T>A (p.Thr1430=) n.4659T>A | |
13 | g.32339014T>C | CA483438086 | BRCA2 | c.4659T>C (p.Thr1553=) c.4290T>C (p.Thr1430=) n.4659T>C | ClinVar dbSNP |
13 | g.32339014T>G | CA483438087 | BRCA2 | c.4659T>G (p.Thr1553=) c.4290T>G (p.Thr1430=) n.4659T>G | |
13 | g.32339014T= | CA2082814517 | BRCA2 | c.4659T= (p.Thr1553=) c.4290T= (p.Thr1430=) n.4659T= | |
13 | g.32339015A= | CA2082814524 | BRCA2 | c.4660A= (p.Ser1554=) c.4291A= (p.Ser1431=) n.4660A= | |
13 | g.32339015A>C | CA387782742 | BRCA2 | c.4660A>C (p.Ser1554Arg) c.4291A>C (p.Ser1431Arg) n.4660A>C | |
13 | g.32339015A>G | CA387782744 | BRCA2 | c.4660A>G (p.Ser1554Gly) c.4291A>G (p.Ser1431Gly) n.4660A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339015A>T | CA387782745 | BRCA2 | c.4660A>T (p.Ser1554Cys) c.4291A>T (p.Ser1431Cys) n.4660A>T | dbSNP |
13 | g.32339016G>A | CA387782747 | BRCA2 | c.4661G>A (p.Ser1554Asn) c.4292G>A (p.Ser1431Asn) n.4661G>A | ClinVar dbSNP |
13 | g.32339016G>C | CA10577474 | BRCA2 | c.4661G>C (p.Ser1554Thr) c.4292G>C (p.Ser1431Thr) n.4661G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32339016G= | CA2082814531 | BRCA2 | c.4661G= (p.Ser1554=) c.4292G= (p.Ser1431=) n.4661G= | |
13 | g.32339016G>T | CA387782749 | BRCA2 | c.4661G>T (p.Ser1554Ile) c.4292G>T (p.Ser1431Ile) n.4661G>T | dbSNP |
13 | g.32339017_32339018del | CA2565197088 | BRCA2 | c.4662_4663del (p.Ser1554ArgfsTer6) c.4293_4294del (p.Ser1431ArgfsTer6) n.4662_4663del | |
13 | g.32339017T>A | CA387782750 | BRCA2 | c.4662T>A (p.Ser1554Arg) c.4293T>A (p.Ser1431Arg) n.4662T>A | dbSNP |
13 | g.32339017T>C | CA483438089 | BRCA2 | c.4662T>C (p.Ser1554=) c.4293T>C (p.Ser1431=) n.4662T>C | dbSNP |
13 | g.32339017T>G | CA020611 | BRCA2 | c.4662T>G (p.Ser1554Arg) c.4293T>G (p.Ser1431Arg) n.4662T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339017T= | CA2082814546 | BRCA2 | c.4662T= (p.Ser1554=) c.4293T= (p.Ser1431=) n.4662T= | |
13 | g.32339018G>A | CA387782753 | BRCA2 | c.4663G>A (p.Glu1555Lys) c.4294G>A (p.Glu1432Lys) n.4663G>A | ClinVar dbSNP |
13 | g.32339018G>C | CA387782755 | BRCA2 | c.4663G>C (p.Glu1555Gln) c.4294G>C (p.Glu1432Gln) n.4663G>C | |
13 | g.32339018G= | CA2082814564 | BRCA2 | c.4663G= (p.Glu1555=) c.4294G= (p.Glu1432=) n.4663G= | |
13 | g.32339018G>T | CA387782756 | BRCA2 | c.4663G>T (p.Glu1555Ter) c.4294G>T (p.Glu1432Ter) n.4663G>T | |
13 | g.32339019A>C | CA387782758 | BRCA2 | c.4664A>C (p.Glu1555Ala) c.4295A>C (p.Glu1432Ala) n.4664A>C | |
13 | g.32339019A>G | CA387782759 | BRCA2 | c.4664A>G (p.Glu1555Gly) c.4295A>G (p.Glu1432Gly) n.4664A>G | dbSNP gnomAD v4 |
13 | g.32339019A>T | CA387782761 | BRCA2 | c.4664A>T (p.Glu1555Val) c.4295A>T (p.Glu1432Val) n.4664A>T | dbSNP |
13 | g.32339020A>C | CA387782764 | BRCA2 | c.4665A>C (p.Glu1555Asp) c.4296A>C (p.Glu1432Asp) n.4665A>C | |
13 | g.32339020A>G | CA483438091 | BRCA2 | c.4665A>G (p.Glu1555=) c.4296A>G (p.Glu1432=) n.4665A>G | |
13 | g.32339020A>T | CA387782763 | BRCA2 | c.4665A>T (p.Glu1555Asp) c.4296A>T (p.Glu1432Asp) n.4665A>T | dbSNP |
13 | g.32339021A>C | CA387782766 | BRCA2 | c.4666A>C (p.Ile1556Leu) c.4297A>C (p.Ile1433Leu) n.4666A>C | dbSNP |
13 | g.32339021A>G | CA387782767 | BRCA2 | c.4666A>G (p.Ile1556Val) c.4297A>G (p.Ile1433Val) n.4666A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32339021A>T | CA387782768 | BRCA2 | c.4666A>T (p.Ile1556Phe) c.4297A>T (p.Ile1433Phe) n.4666A>T | dbSNP |
13 | g.32339022T>A | CA387782770 | BRCA2 | c.4667T>A (p.Ile1556Asn) c.4298T>A (p.Ile1433Asn) n.4667T>A | dbSNP |
13 | g.32339022T>C | CA387782772 | BRCA2 | c.4667T>C (p.Ile1556Thr) c.4298T>C (p.Ile1433Thr) n.4667T>C | |
13 | g.32339022T>G | CA387782773 | BRCA2 | c.4667T>G (p.Ile1556Ser) c.4298T>G (p.Ile1433Ser) n.4667T>G | dbSNP |
13 | g.32339023C>A | CA483438093 | BRCA2 | c.4668C>A (p.Ile1556=) c.4299C>A (p.Ile1433=) n.4668C>A | ClinVar dbSNP |