Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32356422del | CA2573053821 | BRCA2 | c.7436-6del (n.7436-6del) c.7067-6del (n.7067-6del) n.7436-6del c.7340-6del (n.7340-6del) | ClinVar dbSNP |
13 | g.32356422_32356424delinsGG | CA2697551775 | BRCA2 | c.7436-6_7436-4delinsGG (n.7436-6_7436-4delinsGG) c.7067-6_7067-4delinsGG (n.7067-6_7067-4delinsGG) n.7436-6_7436-4delinsGG c.7340-6_7340-4delinsGG (n.7340-6_7340-4delinsGG) | ClinVar |
13 | g.32356422_32356426delinsTGATA | CA2082813981 | BRCA2 | c.7436-6_7436-2delinsTGATA (n.7436-6_7436-2delinsTGATA) c.7067-6_7067-2delinsTGATA (n.7067-6_7067-2delinsTGATA) n.7436-6_7436-2delinsTGATA c.7340-6_7340-2delinsTGATA (n.7340-6_7340-2delinsTGATA) | |
13 | g.32356423G>A | CA2499222287 | BRCA2 | c.7436-5G>A (n.7436-5G>A) c.7067-5G>A (n.7067-5G>A) n.7436-5G>A c.7340-5G>A (n.7340-5G>A) | ClinVar dbSNP |
13 | g.32356423G>C | CA2727922257 | BRCA2 | c.7436-5G>C (n.7436-5G>C) c.7067-5G>C (n.7067-5G>C) n.7436-5G>C c.7340-5G>C (n.7340-5G>C) | dbSNP |
13 | g.32356423G>T | CA2727922285 | BRCA2 | c.7436-5G>T (n.7436-5G>T) c.7067-5G>T (n.7067-5G>T) n.7436-5G>T c.7340-5G>T (n.7340-5G>T) | dbSNP |
13 | g.32356426_32356429del | CA10579738 | BRCA2 | c.7436-2_7437del c.7067-2_7068del n.7436-2_7437del c.7340-2_7341del | ClinVar dbSNP |
13 | g.32356424A= | CA2082813997 | BRCA2 | c.7436-4A= (n.7436-4A=) c.7067-4A= (n.7067-4A=) n.7436-4A= c.7340-4A= (n.7340-4A=) | |
13 | g.32356424A>G | CA025086 | BRCA2 | c.7436-4A>G (n.7436-4A>G) c.7067-4A>G (n.7067-4A>G) n.7436-4A>G c.7340-4A>G (n.7340-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356424A>T | CA658656424 | BRCA2 | c.7436-4A>T (n.7436-4A>T) c.7067-4A>T (n.7067-4A>T) n.7436-4A>T c.7340-4A>T (n.7340-4A>T) | ClinVar dbSNP |
13 | g.32356425T>C | CA915946869 | BRCA2 | c.7436-3T>C (n.7436-3T>C) c.7067-3T>C (n.7067-3T>C) n.7436-3T>C c.7340-3T>C (n.7340-3T>C) | ClinVar dbSNP |
13 | g.32356425T= | CA2082814003 | BRCA2 | c.7436-3T= (n.7436-3T=) c.7067-3T= (n.7067-3T=) n.7436-3T= c.7340-3T= (n.7340-3T=) | |
13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
13 | g.32356426A= | CA2082814009 | BRCA2 | c.7436-2A= (n.7436-2A=) c.7067-2A= (n.7067-2A=) n.7436-2A= c.7340-2A= (n.7340-2A=) | |
13 | g.32356426A>C | CA387742928 | BRCA2 | c.7436-2A>C (n.7436-2A>C) c.7067-2A>C (n.7067-2A>C) n.7436-2A>C c.7340-2A>C (n.7340-2A>C) | ClinVar dbSNP |
13 | g.32356426A>G | CA10602538 | BRCA2 | c.7436-2A>G (n.7436-2A>G) c.7067-2A>G (n.7067-2A>G) n.7436-2A>G c.7340-2A>G (n.7340-2A>G) | ClinVar dbSNP |
13 | g.32356426A>T | CA025085 | BRCA2 | c.7436-2A>T (n.7436-2A>T) c.7067-2A>T (n.7067-2A>T) n.7436-2A>T c.7340-2A>T (n.7340-2A>T) | ClinVar dbSNP |
13 | g.32356427G>A | CA387742943 | BRCA2 | c.7436-1G>A (n.7436-1G>A) c.7067-1G>A (n.7067-1G>A) n.7436-1G>A c.7340-1G>A (n.7340-1G>A) | ClinVar dbSNP |
13 | g.32356427G>C | CA10602539 | BRCA2 | c.7436-1G>C (n.7436-1G>C) c.7067-1G>C (n.7067-1G>C) n.7436-1G>C c.7340-1G>C (n.7340-1G>C) | ClinVar dbSNP |
13 | g.32356427G= | CA2082814024 | BRCA2 | c.7436-1G= (n.7436-1G=) c.7067-1G= (n.7067-1G=) n.7436-1G= c.7340-1G= (n.7340-1G=) | |
13 | g.32356427G>T | CA387742947 | BRCA2 | c.7436-1G>T (n.7436-1G>T) c.7067-1G>T (n.7067-1G>T) n.7436-1G>T c.7340-1G>T (n.7340-1G>T) | ClinVar dbSNP |
13 | g.32356428A= | CA2082814037 | BRCA2 | c.7436A= (p.Asp2479=) c.7067A= (p.Asp2356=) c.1A= n.7436A= c.7340A= (p.Asp2447=) | |
13 | g.32356428A>C | CA387742949 | BRCA2 | c.7436A>C (p.Asp2479Ala) c.7067A>C (p.Asp2356Ala) c.1A>C n.7436A>C c.7340A>C (p.Asp2447Ala) | |
13 | g.32356428A>G | CA025089 | BRCA2 | c.7436A>G (p.Asp2479Gly) c.7067A>G (p.Asp2356Gly) c.1A>G n.7436A>G c.7340A>G (p.Asp2447Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32356428A>T | CA387742952 | BRCA2 | c.7436A>T (p.Asp2479Val) c.7067A>T (p.Asp2356Val) c.1A>T n.7436A>T c.7340A>T (p.Asp2447Val) | dbSNP |
13 | g.32356429T>A | CA387742954 | BRCA2 | c.7437T>A (p.Asp2479Glu) c.7068T>A (p.Asp2356Glu) c.2T>A n.7437T>A c.7341T>A (p.Asp2447Glu) | |
13 | g.32356429T>C | CA483260348 | BRCA2 | c.7437T>C (p.Asp2479=) c.7068T>C (p.Asp2356=) c.2T>C n.7437T>C c.7341T>C (p.Asp2447=) | ClinVar |
13 | g.32356429T>G | CA387742957 | BRCA2 | c.7437T>G (p.Asp2479Glu) c.7068T>G (p.Asp2356Glu) c.2T>G n.7437T>G c.7341T>G (p.Asp2447Glu) | ClinVar |
13 | g.32356430T>A | CA387742961 | BRCA2 | c.7438T>A (p.Leu2480Ile) c.7069T>A (p.Leu2357Ile) c.3T>A n.7438T>A c.7342T>A (p.Leu2448Ile) | dbSNP |
13 | g.32356430T>C | CA483260349 | BRCA2 | c.7438T>C (p.Leu2480=) c.7069T>C (p.Leu2357=) c.3T>C n.7438T>C c.7342T>C (p.Leu2448=) | ClinVar dbSNP |
13 | g.32356430T>G | CA025090 | BRCA2 | c.7438T>G (p.Leu2480Val) c.7069T>G (p.Leu2357Val) c.3T>G n.7438T>G c.7342T>G (p.Leu2448Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356430T= | CA2082814049 | BRCA2 | c.7438T= (p.Leu2480=) c.7069T= (p.Leu2357=) c.3T= n.7438T= c.7342T= (p.Leu2448=) | |
13 | g.32356431T>A | CA387742964 | BRCA2 | c.7439T>A (p.Leu2480Ter) c.7070T>A (p.Leu2357Ter) c.4T>A n.7439T>A c.7343T>A (p.Leu2448Ter) | ClinVar dbSNP |
13 | g.32356431T>C | CA387742966 | BRCA2 | c.7439T>C (p.Leu2480Ser) c.7070T>C (p.Leu2357Ser) c.4T>C n.7439T>C c.7343T>C (p.Leu2448Ser) | gnomAD v4 |
13 | g.32356431T>G | CA387742969 | BRCA2 | c.7439T>G (p.Leu2480Ter) c.7070T>G (p.Leu2357Ter) c.4T>G n.7439T>G c.7343T>G (p.Leu2448Ter) | |
13 | g.32356432A= | CA2082814055 | BRCA2 | c.7440A= (p.Leu2480=) c.7071A= (p.Leu2357=) c.5A= n.7440A= c.7344A= (p.Leu2448=) | |
13 | g.32356432A>C | CA387742971 | BRCA2 | c.7440A>C (p.Leu2480Phe) c.7071A>C (p.Leu2357Phe) c.5A>C n.7440A>C c.7344A>C (p.Leu2448Phe) | ClinVar dbSNP |
13 | g.32356432A>G | CA483260350 | BRCA2 | c.7440A>G (p.Leu2480=) c.7071A>G (p.Leu2357=) c.5A>G n.7440A>G c.7344A>G (p.Leu2448=) | |
13 | g.32356432A>T | CA387742974 | BRCA2 | c.7440A>T (p.Leu2480Phe) c.7071A>T (p.Leu2357Phe) c.5A>T n.7440A>T c.7344A>T (p.Leu2448Phe) | dbSNP |
13 | g.32356433A= | CA2082814064 | BRCA2 | c.7441A= (p.Ile2481=) c.7072A= (p.Ile2358=) c.6A= n.7441A= c.7345A= (p.Ile2449=) | |
13 | g.32356433A>C | CA387742976 | BRCA2 | c.7441A>C (p.Ile2481Leu) c.7072A>C (p.Ile2358Leu) c.6A>C n.7441A>C c.7345A>C (p.Ile2449Leu) | |
13 | g.32356433A>G | CA387742978 | BRCA2 | c.7441A>G (p.Ile2481Val) c.7072A>G (p.Ile2358Val) c.6A>G n.7441A>G c.7345A>G (p.Ile2449Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356433A>T | CA6941101 | BRCA2 | c.7441A>T (p.Ile2481Phe) c.7072A>T (p.Ile2358Phe) c.6A>T n.7441A>T c.7345A>T (p.Ile2449Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356433_32356434delinsAT | CA2082814063 | BRCA2 | c.7441_7442delinsAT (p.Ile2481=) c.7072_7073delinsAT (p.Ile2358=) c.6_7delinsAT n.7441_7442delinsAT c.7345_7346delinsAT (p.Ile2449=) | |
13 | g.32356434T>A | CA387742982 | BRCA2 | c.7442T>A (p.Ile2481Asn) c.7073T>A (p.Ile2358Asn) c.7T>A n.7442T>A c.7346T>A (p.Ile2449Asn) | dbSNP |
13 | g.32356434T>C | CA387742985 | BRCA2 | c.7442T>C (p.Ile2481Thr) c.7073T>C (p.Ile2358Thr) c.7T>C n.7442T>C c.7346T>C (p.Ile2449Thr) | dbSNP |
13 | g.32356434T>G | CA387742987 | BRCA2 | c.7442T>G (p.Ile2481Ser) c.7073T>G (p.Ile2358Ser) c.7T>G n.7442T>G c.7346T>G (p.Ile2449Ser) | ClinVar |
13 | g.32356435del | CA025092 | BRCA2 | c.7443del (p.Thr2482GlnfsTer?) c.7074del (p.Thr2359GlnfsTer?) c.8del n.7443del c.7347del (p.Thr2450GlnfsTer?) | ClinVar dbSNP |
13 | g.32356435T>A | CA483260351 | BRCA2 | c.7443T>A (p.Ile2481=) c.7074T>A (p.Ile2358=) c.8T>A n.7443T>A c.7347T>A (p.Ile2449=) | |
13 | g.32356435T>C | CA483260352 | BRCA2 | c.7443T>C (p.Ile2481=) c.7074T>C (p.Ile2358=) c.8T>C n.7443T>C c.7347T>C (p.Ile2449=) |