Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
13 | g.32339564_32339628dup | CA915948485 | BRCA2 | c.5209_5273dup (p.Asn1758LysfsTer5) c.4840_4904dup (p.Asn1635LysfsTer5) n.5209_5273dup | ClinVar dbSNP |
13 | g.32339595dup | CA2697551799 | BRCA2 | c.5240dup (p.Asn1747LysfsTer8) c.4871dup (p.Asn1624LysfsTer8) n.5240dup | ClinVar |
13 | g.32339595A= | CA2082820865 | BRCA2 | c.5240A= (p.Asn1747=) c.4871A= (p.Asn1624=) n.5240A= | |
13 | g.32339595A>C | CA387784679 | BRCA2 | c.5240A>C (p.Asn1747Thr) c.4871A>C (p.Asn1624Thr) n.5240A>C | ClinVar dbSNP |
13 | g.32339595A>G | CA387784680 | BRCA2 | c.5240A>G (p.Asn1747Ser) c.4871A>G (p.Asn1624Ser) n.5240A>G | dbSNP COSMIC COSMIC |
13 | g.32339595A>T | CA387784681 | BRCA2 | c.5240A>T (p.Asn1747Ile) c.4871A>T (p.Asn1624Ile) n.5240A>T | ClinVar dbSNP |
13 | g.32339595_32339596insTA | CA658823643 | BRCA2 | c.5240_5241insTA (p.Ser1748ThrfsTer30) c.4871_4872insTA (p.Ser1625ThrfsTer30) n.5240_5241insTA | ClinVar dbSNP |
13 | g.32339595_32339596delinsAC | CA2082820864 | BRCA2 | c.5240_5241delinsAC (p.Asn1747=) c.4871_4872delinsAC (p.Asn1624=) n.5240_5241delinsAC | |
13 | g.32339596del | CA10586072 | BRCA2 | c.5241del (p.Asn1747LysfsTer30) c.4872del (p.Asn1624LysfsTer30) n.5241del | ClinVar dbSNP |
13 | g.32339596C>A | CA387784682 | BRCA2 | c.5241C>A (p.Asn1747Lys) c.4872C>A (p.Asn1624Lys) n.5241C>A | dbSNP |
13 | g.32339596C= | CA2082820879 | BRCA2 | c.5241C= (p.Asn1747=) c.4872C= (p.Asn1624=) n.5241C= | |
13 | g.32339596C>G | CA387784683 | BRCA2 | c.5241C>G (p.Asn1747Lys) c.4872C>G (p.Asn1624Lys) n.5241C>G | dbSNP |
13 | g.32339596C>T | CA6940858 | BRCA2 | c.5241C>T (p.Asn1747=) c.4872C>T (p.Asn1624=) n.5241C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339596_32339597insTA | CA6940857 | BRCA2 | c.5241_5242insTA (p.Ser1748Ter) c.4872_4873insTA (p.Ser1625Ter) n.5241_5242insTA | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339597del | CA2573149334 | BRCA2 | c.5242del (p.Ser1748AlafsTer29) c.4873del (p.Ser1625AlafsTer29) n.5242del | ClinVar dbSNP |
13 | g.32339597A= | CA2082820900 | BRCA2 | c.5242A= (p.Ser1748=) c.4873A= (p.Ser1625=) n.5242A= | |
13 | g.32339597A>C | CA387784684 | BRCA2 | c.5242A>C (p.Ser1748Arg) c.4873A>C (p.Ser1625Arg) n.5242A>C | |
13 | g.32339597A>G | CA387784685 | BRCA2 | c.5242A>G (p.Ser1748Gly) c.4873A>G (p.Ser1625Gly) n.5242A>G | ClinVar dbSNP |
13 | g.32339597A>T | CA387784686 | BRCA2 | c.5242A>T (p.Ser1748Cys) c.4873A>T (p.Ser1625Cys) n.5242A>T | dbSNP |
13 | g.32339598_32339601dup | CA2082820893 | BRCA2 | c.5243_5246dup (p.Tyr1749Ter) c.4874_4877dup (p.Tyr1626Ter) n.5243_5246dup | dbSNP |
13 | g.32339598del | CA2622600344 | BRCA2 | c.5243del (p.Ser1748ThrfsTer29) c.4874del (p.Ser1625ThrfsTer29) n.5243del | gnomAD v4 |
13 | g.32339598G>A | CA387784689 | BRCA2 | c.5243G>A (p.Ser1748Asn) c.4874G>A (p.Ser1625Asn) n.5243G>A | dbSNP |
13 | g.32339598G>C | CA387784688 | BRCA2 | c.5243G>C (p.Ser1748Thr) c.4874G>C (p.Ser1625Thr) n.5243G>C | dbSNP |
13 | g.32339598G>T | CA387784687 | BRCA2 | c.5243G>T (p.Ser1748Ile) c.4874G>T (p.Ser1625Ile) n.5243G>T | dbSNP |
13 | g.32339599del | CA658761176 | BRCA2 | c.5244del (p.Tyr1749IlefsTer28) c.4875del (p.Tyr1626IlefsTer28) n.5244del | |
13 | g.32339599C>A | CA021843 | BRCA2 | c.5244C>A (p.Ser1748Arg) c.4875C>A (p.Ser1625Arg) n.5244C>A | ClinVar dbSNP |
13 | g.32339599C= | CA2082820913 | BRCA2 | c.5244C= (p.Ser1748=) c.4875C= (p.Ser1625=) n.5244C= | |
13 | g.32339599C>G | CA387784690 | BRCA2 | c.5244C>G (p.Ser1748Arg) c.4875C>G (p.Ser1625Arg) n.5244C>G | dbSNP |
13 | g.32339599C>T | CA10579648 | BRCA2 | c.5244C>T (p.Ser1748=) c.4875C>T (p.Ser1625=) n.5244C>T | ClinVar dbSNP |
13 | g.32339600T>A | CA387784691 | BRCA2 | c.5245T>A (p.Tyr1749Asn) c.4876T>A (p.Tyr1626Asn) n.5245T>A | dbSNP |
13 | g.32339600T>C | CA10579649 | BRCA2 | c.5245T>C (p.Tyr1749His) c.4876T>C (p.Tyr1626His) n.5245T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32339600T>G | CA387784692 | BRCA2 | c.5245T>G (p.Tyr1749Asp) c.4876T>G (p.Tyr1626Asp) n.5245T>G | ClinVar dbSNP |
13 | g.32339600T= | CA2082820927 | BRCA2 | c.5245T= (p.Tyr1749=) c.4876T= (p.Tyr1626=) n.5245T= | |
13 | g.32339601A= | CA2082820939 | BRCA2 | c.5246A= (p.Tyr1749=) c.4877A= (p.Tyr1626=) n.5246A= | |
13 | g.32339601A>C | CA387784693 | BRCA2 | c.5246A>C (p.Tyr1749Ser) c.4877A>C (p.Tyr1626Ser) n.5246A>C | dbSNP gnomAD v4 |
13 | g.32339601A>G | CA6940859 | BRCA2 | c.5246A>G (p.Tyr1749Cys) c.4877A>G (p.Tyr1626Cys) n.5246A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339601A>T | CA387784694 | BRCA2 | c.5246A>T (p.Tyr1749Phe) c.4877A>T (p.Tyr1626Phe) n.5246A>T | dbSNP |
13 | g.32339602T>A | CA387784695 | BRCA2 | c.5247T>A (p.Tyr1749Ter) c.4878T>A (p.Tyr1626Ter) n.5247T>A | ClinVar dbSNP |
13 | g.32339602T>C | CA483438458 | BRCA2 | c.5247T>C (p.Tyr1749=) c.4878T>C (p.Tyr1626=) n.5247T>C | ClinVar dbSNP |
13 | g.32339602T>G | CA387784696 | BRCA2 | c.5247T>G (p.Tyr1749Ter) c.4878T>G (p.Tyr1626Ter) n.5247T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339602T= | CA2082820949 | BRCA2 | c.5247T= (p.Tyr1749=) c.4878T= (p.Tyr1626=) n.5247T= | |
13 | g.32339603T>A | CA387784697 | BRCA2 | c.5248T>A (p.Ser1750Thr) c.4879T>A (p.Ser1627Thr) n.5248T>A | dbSNP |
13 | g.32339603T>C | CA387784698 | BRCA2 | c.5248T>C (p.Ser1750Pro) c.4879T>C (p.Ser1627Pro) n.5248T>C | |
13 | g.32339603T>G | CA387784699 | BRCA2 | c.5248T>G (p.Ser1750Ala) c.4879T>G (p.Ser1627Ala) n.5248T>G | |
13 | g.32339603_32339604delinsTC | CA2082820960 | BRCA2 | c.5248_5249delinsTC (p.Ser1750=) c.4879_4880delinsTC (p.Ser1627=) n.5248_5249delinsTC | |
13 | g.32339604C>A | CA387784700 | BRCA2 | c.5249C>A (p.Ser1750Tyr) c.4880C>A (p.Ser1627Tyr) n.5249C>A | dbSNP |
13 | g.32339604C= | CA2082820976 | BRCA2 | c.5249C= (p.Ser1750=) c.4880C= (p.Ser1627=) n.5249C= | |
13 | g.32339604C>G | CA387784701 | BRCA2 | c.5249C>G (p.Ser1750Cys) c.4880C>G (p.Ser1627Cys) n.5249C>G | dbSNP gnomAD v4 |
13 | g.32339604C>T | CA021849 | BRCA2 | c.5249C>T (p.Ser1750Phe) c.4880C>T (p.Ser1627Phe) n.5249C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |