Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340799_32340804delinsTATTAA | CA2082814578 | BRCA2 | c.6444_6449delinsTATTAA (p.Ser2148=) c.6075_6080delinsTATTAA (p.Ser2025=) n.6444_6449delinsTATTAA | |
13 | g.32340799_32340813delinsTATTAAAGTTTCTCC | CA2082814573 | BRCA2 | c.6444_6458delinsTATTAAAGTTTCTCC (p.Ser2148=) c.6075_6089delinsTATTAAAGTTTCTCC (p.Ser2025=) n.6444_6458delinsTATTAAAGTTTCTCC | |
13 | g.32340801_32340804del | CA2497029989 | BRCA2 | c.6446_6449del (p.Ile2149LysfsTer18) c.6077_6080del (p.Ile2026LysfsTer18) n.6446_6449del | |
13 | g.32340801_32340805del | CA024058 | BRCA2 | c.6446_6450del (p.Ile2149SerfsTer25) c.6077_6081del (p.Ile2026SerfsTer25) n.6446_6450del | ClinVar dbSNP gnomAD v4 |
13 | g.32340800_32340806del | CA916084397 | BRCA2 | c.6445_6451del (p.Ile2149PhefsTer17) c.6076_6082del (p.Ile2026PhefsTer17) n.6445_6451del | |
13 | g.32340802_32340815del | CA913188564 | BRCA2 | c.6447_6460del (p.Lys2150SerfsTer21) c.6078_6091del (p.Lys2027SerfsTer21) n.6447_6460del | ClinVar dbSNP |
13 | g.32340802_32340804delinsTAA | CA2082814651 | BRCA2 | c.6447_6449delinsTAA (p.Ile2149=) c.6078_6080delinsTAA (p.Ile2026=) n.6447_6449delinsTAA | |
13 | g.32340805dup | CA024068 | BRCA2 | c.6450dup (p.Val2151SerfsTer25) c.6081dup (p.Val2028SerfsTer25) n.6450dup | ClinVar dbSNP |
13 | g.32340804_32340805dup | CA1139663237 | BRCA2 | c.6449_6450dup (p.Val2151LysfsTer18) c.6080_6081dup (p.Val2028LysfsTer18) n.6449_6450dup | ClinVar dbSNP |
13 | g.32340805del | CA10586558 | BRCA2 | c.6450del (p.Val2151PhefsTer17) c.6081del (p.Val2028PhefsTer17) n.6450del | ClinVar dbSNP |
13 | g.32340804_32340805del | CA024064 | BRCA2 | c.6449_6450del (p.Lys2150SerfsTer25) c.6080_6081del (p.Lys2027SerfsTer25) n.6449_6450del | ClinVar dbSNP |
13 | g.32340803_32340813delinsAAAGTTTCTCC | CA2082814681 | BRCA2 | c.6448_6458delinsAAAGTTTCTCC (p.Lys2150=) c.6079_6089delinsAAAGTTTCTCC (p.Lys2027=) n.6448_6458delinsAAAGTTTCTCC | |
13 | g.32340804A>C | CA387789328 | BRCA2 | c.6449A>C (p.Lys2150Thr) c.6080A>C (p.Lys2027Thr) n.6449A>C | |
13 | g.32340804A>G | CA387789327 | BRCA2 | c.6449A>G (p.Lys2150Arg) c.6080A>G (p.Lys2027Arg) n.6449A>G | |
13 | g.32340804A>T | CA387789329 | BRCA2 | c.6449A>T (p.Lys2150Ile) c.6080A>T (p.Lys2027Ile) n.6449A>T | dbSNP |
13 | g.32340804_32340805insTA | CA024067 | BRCA2 | c.6449_6450insTA (p.Lys2150AsnfsTer19) c.6080_6081insTA (p.Lys2027AsnfsTer19) n.6449_6450insTA | ClinVar dbSNP |
13 | g.32340805_32340814del | CA919242718 | BRCA2 | c.6450_6459del (p.Lys2150AsnfsTer15) c.6081_6090del (p.Lys2027AsnfsTer15) n.6450_6459del | dbSNP |
13 | g.32340805A= | CA2082814714 | BRCA2 | c.6450A= (p.Lys2150=) c.6081A= (p.Lys2027=) n.6450A= | |
13 | g.32340805A>C | CA10579696 | BRCA2 | c.6450A>C (p.Lys2150Asn) c.6081A>C (p.Lys2027Asn) n.6450A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340805A>G | CA483438993 | BRCA2 | c.6450A>G (p.Lys2150=) c.6081A>G (p.Lys2027=) n.6450A>G | ClinVar dbSNP |
13 | g.32340805A>T | CA387789330 | BRCA2 | c.6450A>T (p.Lys2150Asn) c.6081A>T (p.Lys2027Asn) n.6450A>T | dbSNP |
13 | g.32340806del | CA2499222238 | BRCA2 | c.6451del (p.Val2151PhefsTer17) c.6082del (p.Val2028PhefsTer17) n.6451del | |
13 | g.32340806G>A | CA387789331 | BRCA2 | c.6451G>A (p.Val2151Ile) c.6082G>A (p.Val2028Ile) n.6451G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340806G>C | CA387789332 | BRCA2 | c.6451G>C (p.Val2151Leu) c.6082G>C (p.Val2028Leu) n.6451G>C | dbSNP |
13 | g.32340806G= | CA2082814728 | BRCA2 | c.6451G= (p.Val2151=) c.6082G= (p.Val2028=) n.6451G= | |
13 | g.32340806G>T | CA387789333 | BRCA2 | c.6451G>T (p.Val2151Phe) c.6082G>T (p.Val2028Phe) n.6451G>T | |
13 | g.32340806_32340807insAA | CA2499222239 | BRCA2 | c.6451_6452insAA (p.Val2151GlufsTer18) c.6082_6083insAA (p.Val2028GlufsTer18) n.6451_6452insAA | |
13 | g.32340807T>A | CA387789335 | BRCA2 | c.6452T>A (p.Val2151Asp) c.6083T>A (p.Val2028Asp) n.6452T>A | dbSNP |
13 | g.32340807T>C | CA387789334 | BRCA2 | c.6452T>C (p.Val2151Ala) c.6083T>C (p.Val2028Ala) n.6452T>C | ClinVar dbSNP |
13 | g.32340807T>G | CA16619746 | BRCA2 | c.6452T>G (p.Val2151Gly) c.6083T>G (p.Val2028Gly) n.6452T>G | ClinVar dbSNP |
13 | g.32340807T= | CA2082814734 | BRCA2 | c.6452T= (p.Val2151=) c.6083T= (p.Val2028=) n.6452T= | |
13 | g.32340808T>A | CA483438998 | BRCA2 | c.6453T>A (p.Val2151=) c.6084T>A (p.Val2028=) n.6453T>A | dbSNP |
13 | g.32340808T>C | CA483438999 | BRCA2 | c.6453T>C (p.Val2151=) c.6084T>C (p.Val2028=) n.6453T>C | ClinVar dbSNP |
13 | g.32340808T>G | CA483439001 | BRCA2 | c.6453T>G (p.Val2151=) c.6084T>G (p.Val2028=) n.6453T>G | gnomAD v4 |
13 | g.32340809T>A | CA387789336 | BRCA2 | c.6454T>A (p.Ser2152Thr) c.6085T>A (p.Ser2029Thr) n.6454T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340809T>C | CA387789337 | BRCA2 | c.6454T>C (p.Ser2152Pro) c.6085T>C (p.Ser2029Pro) n.6454T>C | ClinVar dbSNP |
13 | g.32340809T>G | CA387789338 | BRCA2 | c.6454T>G (p.Ser2152Ala) c.6085T>G (p.Ser2029Ala) n.6454T>G | |
13 | g.32340809T= | CA2082814749 | BRCA2 | c.6454T= (p.Ser2152=) c.6085T= (p.Ser2029=) n.6454T= | |
13 | g.32340810C>A | CA024071 | BRCA2 | c.6455C>A (p.Ser2152Tyr) c.6086C>A (p.Ser2029Tyr) n.6455C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340810C= | CA2082814759 | BRCA2 | c.6455C= (p.Ser2152=) c.6086C= (p.Ser2029=) n.6455C= | |
13 | g.32340810C>G | CA387789339 | BRCA2 | c.6455C>G (p.Ser2152Cys) c.6086C>G (p.Ser2029Cys) n.6455C>G | ClinVar dbSNP |
13 | g.32340810C>T | CA16619747 | BRCA2 | c.6455C>T (p.Ser2152Phe) c.6086C>T (p.Ser2029Phe) n.6455C>T | ClinVar dbSNP |
13 | g.32340811T>A | CA483439006 | BRCA2 | c.6456T>A (p.Ser2152=) c.6087T>A (p.Ser2029=) n.6456T>A | |
13 | g.32340811T>C | CA483439007 | BRCA2 | c.6456T>C (p.Ser2152=) c.6087T>C (p.Ser2029=) n.6456T>C | |
13 | g.32340811T>G | CA483439009 | BRCA2 | c.6456T>G (p.Ser2152=) c.6087T>G (p.Ser2029=) n.6456T>G | |
13 | g.32340811_32340812delinsTC | CA2082814792 | BRCA2 | c.6456_6457delinsTC (p.Ser2152=) c.6087_6088delinsTC (p.Ser2029=) n.6456_6457delinsTC | |
13 | g.32340812C>A | CA387789347 | BRCA2 | c.6457C>A (p.Pro2153Thr) c.6088C>A (p.Pro2030Thr) n.6457C>A | dbSNP |
13 | g.32340812C= | CA2082814801 | BRCA2 | c.6457C= (p.Pro2153=) c.6088C= (p.Pro2030=) n.6457C= |