Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
13 | g.32336844dup | CA1139663114 | BRCA2 | c.2489dup (p.Asn830LysfsTer3) c.2120dup (p.Asn707LysfsTer3) n.2489dup | ClinVar dbSNP |
13 | g.32336844A= | CA2082808978 | BRCA2 | c.2489A= (p.Asn830=) c.2120A= (p.Asn707=) n.2489A= | |
13 | g.32336844A>C | CA387772404 | BRCA2 | c.2489A>C (p.Asn830Thr) c.2120A>C (p.Asn707Thr) n.2489A>C | dbSNP |
13 | g.32336844A>G | CA015453 | BRCA2 | c.2489A>G (p.Asn830Ser) c.2120A>G (p.Asn707Ser) n.2489A>G | ClinVar dbSNP |
13 | g.32336844A>T | CA387772405 | BRCA2 | c.2489A>T (p.Asn830Ile) c.2120A>T (p.Asn707Ile) n.2489A>T | ClinVar dbSNP |
13 | g.32336844_32336845insT | CA658823624 | BRCA2 | c.2489_2490insT (p.Val831ArgfsTer2) c.2120_2121insT (p.Val708ArgfsTer2) n.2489_2490insT | ClinVar dbSNP |
13 | g.32336845C>A | CA015457 | BRCA2 | c.2490C>A (p.Asn830Lys) c.2121C>A (p.Asn707Lys) n.2490C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336845C= | CA2082809005 | BRCA2 | c.2490C= (p.Asn830=) c.2121C= (p.Asn707=) n.2490C= | |
13 | g.32336845C>G | CA10588562 | BRCA2 | c.2490C>G (p.Asn830Lys) c.2121C>G (p.Asn707Lys) n.2490C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32336845C>T | CA015465 | BRCA2 | c.2490C>T (p.Asn830=) c.2121C>T (p.Asn707=) n.2490C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336845_32336846insT | CA10589157 | BRCA2 | c.2490_2491insT (p.Val831CysfsTer2) c.2121_2122insT (p.Val708CysfsTer2) n.2490_2491insT | ClinVar dbSNP gnomAD v4 |
13 | g.32336846G>A | CA015472 | BRCA2 | c.2491G>A (p.Val831Ile) c.2122G>A (p.Val708Ile) n.2491G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32336846G>C | CA387772407 | BRCA2 | c.2491G>C (p.Val831Leu) c.2122G>C (p.Val708Leu) n.2491G>C | dbSNP gnomAD v4 |
13 | g.32336846G= | CA2082809019 | BRCA2 | c.2491G= (p.Val831=) c.2122G= (p.Val708=) n.2491G= | |
13 | g.32336846G>T | CA387772406 | BRCA2 | c.2491G>T (p.Val831Phe) c.2122G>T (p.Val708Phe) n.2491G>T | dbSNP |
13 | g.32336850_32336857del | CA2580087274 | BRCA2 | c.2495_2502del (p.Glu832AlafsTer3) c.2126_2133del (p.Glu709AlafsTer3) n.2495_2502del | ClinVar |
13 | g.32336847T>A | CA387772408 | BRCA2 | c.2492T>A (p.Val831Asp) c.2123T>A (p.Val708Asp) n.2492T>A | dbSNP |
13 | g.32336847T>C | CA6940608 | BRCA2 | c.2492T>C (p.Val831Ala) c.2123T>C (p.Val708Ala) n.2492T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336847T>G | CA387772409 | BRCA2 | c.2492T>G (p.Val831Gly) c.2123T>G (p.Val708Gly) n.2492T>G | dbSNP |
13 | g.32336847T= | CA2082809034 | BRCA2 | c.2492T= (p.Val831=) c.2123T= (p.Val708=) n.2492T= | |
13 | g.32336848dup | CA2695218007 | BRCA2 | c.2493dup (p.Glu832Ter) c.2124dup (p.Glu709Ter) n.2493dup | |
13 | g.32336848T>A | CA483437226 | BRCA2 | c.2493T>A (p.Val831=) c.2124T>A (p.Val708=) n.2493T>A | dbSNP |
13 | g.32336848T>C | CA483437227 | BRCA2 | c.2493T>C (p.Val831=) c.2124T>C (p.Val708=) n.2493T>C | ClinVar dbSNP |
13 | g.32336848T>G | CA483437228 | BRCA2 | c.2493T>G (p.Val831=) c.2124T>G (p.Val708=) n.2493T>G | ClinVar dbSNP |
13 | g.32336848T= | CA2082809039 | BRCA2 | c.2493T= (p.Val831=) c.2124T= (p.Val708=) n.2493T= | |
13 | g.32336849del | CA2727920011 | BRCA2 | c.2494del (p.Glu832SerfsTer9) c.2125del (p.Glu709SerfsTer9) n.2494del | dbSNP |
13 | g.32336849G>A | CA387772410 | BRCA2 | c.2494G>A (p.Glu832Lys) c.2125G>A (p.Glu709Lys) n.2494G>A | dbSNP COSMIC COSMIC |
13 | g.32336849G>C | CA387772411 | BRCA2 | c.2494G>C (p.Glu832Gln) c.2125G>C (p.Glu709Gln) n.2494G>C | ClinVar dbSNP |
13 | g.32336849G= | CA2082809049 | BRCA2 | c.2494G= (p.Glu832=) c.2125G= (p.Glu709=) n.2494G= | |
13 | g.32336849G>T | CA015478 | BRCA2 | c.2494G>T (p.Glu832Ter) c.2125G>T (p.Glu709Ter) n.2494G>T | ClinVar dbSNP |
13 | g.32336850A>C | CA387772412 | BRCA2 | c.2495A>C (p.Glu832Ala) c.2126A>C (p.Glu709Ala) n.2495A>C | |
13 | g.32336850A>G | CA387772413 | BRCA2 | c.2495A>G (p.Glu832Gly) c.2126A>G (p.Glu709Gly) n.2495A>G | dbSNP COSMIC COSMIC |
13 | g.32336850A>T | CA387772414 | BRCA2 | c.2495A>T (p.Glu832Val) c.2126A>T (p.Glu709Val) n.2495A>T | dbSNP COSMIC COSMIC |
13 | g.32336851G>A | CA015486 | BRCA2 | c.2496G>A (p.Glu832=) c.2127G>A (p.Glu709=) n.2496G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336851G>C | CA387772415 | BRCA2 | c.2496G>C (p.Glu832Asp) c.2127G>C (p.Glu709Asp) n.2496G>C | ClinVar dbSNP |
13 | g.32336851G= | CA2082809055 | BRCA2 | c.2496G= (p.Glu832=) c.2127G= (p.Glu709=) n.2496G= | |
13 | g.32336851G>T | CA387772416 | BRCA2 | c.2496G>T (p.Glu832Asp) c.2127G>T (p.Glu709Asp) n.2496G>T | ClinVar dbSNP |
13 | g.32336852C>A | CA387772418 | BRCA2 | c.2497C>A (p.Leu833Met) c.2128C>A (p.Leu710Met) n.2497C>A | dbSNP |
13 | g.32336852C= | CA2082809058 | BRCA2 | c.2497C= (p.Leu833=) c.2128C= (p.Leu710=) n.2497C= | |
13 | g.32336852C>G | CA387772417 | BRCA2 | c.2497C>G (p.Leu833Val) c.2128C>G (p.Leu710Val) n.2497C>G | |
13 | g.32336852C>T | CA483437231 | BRCA2 | c.2497C>T (p.Leu833=) c.2128C>T (p.Leu710=) n.2497C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336853T>A | CA387772419 | BRCA2 | c.2498T>A (p.Leu833Gln) c.2129T>A (p.Leu710Gln) n.2498T>A | dbSNP |
13 | g.32336853T>C | CA387772420 | BRCA2 | c.2498T>C (p.Leu833Pro) c.2129T>C (p.Leu710Pro) n.2498T>C | ClinVar dbSNP |
13 | g.32336853T>G | CA387772421 | BRCA2 | c.2498T>G (p.Leu833Arg) c.2129T>G (p.Leu710Arg) n.2498T>G | |
13 | g.32336853T= | CA2082809065 | BRCA2 | c.2498T= (p.Leu833=) c.2129T= (p.Leu710=) n.2498T= | |
13 | g.32336855_32336857dup | CA2622601016 | BRCA2 | c.2500_2502dup (p.Leu834_Pro835insLeu) c.2131_2133dup (p.Leu711_Pro712insLeu) n.2500_2502dup | gnomAD v4 |
13 | g.32336853_32336861delinsAACAG | CA2695218008 | BRCA2 | c.2498_2506delinsAACAG (p.Leu833GlnfsTer7) c.2129_2137delinsAACAG (p.Leu710GlnfsTer7) n.2498_2506delinsAACAG | |
13 | g.32336854G>A | CA483437235 | BRCA2 | c.2499G>A (p.Leu833=) c.2130G>A (p.Leu710=) n.2499G>A | ClinVar dbSNP gnomAD v4 |