Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32398161_32398770delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA | CA2082833839 | BRCA2 | c.*172-1_*780delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.*1016-1_*1624delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9280-1_9888delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.*1211-1_*1819delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9598-1_10206delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.2065-1_2673delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA n.1776-1_2384delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9649-1_10257delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9657-1_10265delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA c.9553-1_10161delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA | |
13 | g.32398162_32398770del | CA913190737 | BRCA2 | c.*172_*780del (n.*172_*780del) c.*1016_*1624del (n.*1016_*1624del) c.9280_9888del (p.Met3094_Ter3296del) c.*1211_*1819del (n.*1211_*1819del) c.9598_10206del (p.Met3200_Ter3402del) c.2065_2673del (p.Met689_Ter891del) n.1776_2384del c.9649_10257del (p.Met3217_Ter3419del) c.9657_10265del (n.9657_10265del) c.9553_10161del (p.Met3185_Ter3387del) | ClinVar dbSNP |
13 | g.32398162_32399672del | CA658798102 | BRCA2 | c.*172_*1682del (n.*172_*1682del) c.9280_*902del (n.[c.9280_*902del;Met3094LeufsTer18]) c.9649_*902del (n.[c.9649_*902del;Met3217LeufsTer18]) c.9657_11167del (n.9657_11167del) c.9649_*902del (n.[c.9649_*902del;Met3217=]) c.9553_*902del (n.[c.9553_*902del;Met3185LeufsTer18]) | ClinVar |
13 | g.32398589A= | CA2082836994 | BRCA2 | c.*599A= (n.*599A=) c.*1443A= (n.*1443A=) c.9707A= (p.Glu3236=) c.*1638A= (n.*1638A=) c.10025A= (p.Glu3342=) c.2492A= (p.Glu831=) n.2203A= c.10076A= (p.Glu3359=) c.10084A= (n.10084A=) c.9980A= (p.Glu3327=) | |
13 | g.32398589A>C | CA387767910 | BRCA2 | c.*599A>C (n.*599A>C) c.*1443A>C (n.*1443A>C) c.9707A>C (p.Glu3236Ala) c.*1638A>C (n.*1638A>C) c.10025A>C (p.Glu3342Ala) c.2492A>C (p.Glu831Ala) n.2203A>C c.10076A>C (p.Glu3359Ala) c.10084A>C (n.10084A>C) c.9980A>C (p.Glu3327Ala) | |
13 | g.32398589A>G | CA010155 | BRCA2 | c.*599A>G (n.*599A>G) c.*1443A>G (n.*1443A>G) c.9707A>G (p.Glu3236Gly) c.*1638A>G (n.*1638A>G) c.10025A>G (p.Glu3342Gly) c.2492A>G (p.Glu831Gly) n.2203A>G c.10076A>G (p.Glu3359Gly) c.10084A>G (n.10084A>G) c.9980A>G (p.Glu3327Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398589A>T | CA387767911 | BRCA2 | c.*599A>T (n.*599A>T) c.*1443A>T (n.*1443A>T) c.9707A>T (p.Glu3236Val) c.*1638A>T (n.*1638A>T) c.10025A>T (p.Glu3342Val) c.2492A>T (p.Glu831Val) n.2203A>T c.10076A>T (p.Glu3359Val) c.10084A>T (n.10084A>T) c.9980A>T (p.Glu3327Val) | |
13 | g.32398593del | CA645586597 | BRCA2 | c.*603del (n.*603del) c.*1447del (n.*1447del) c.9711del (p.Lys3237AsnfsTer23) c.*1642del (n.*1642del) c.10029del (p.Lys3343AsnfsTer23) c.2496del (p.Lys832AsnfsTer23) n.2207del c.10080del (p.Lys3360AsnfsTer23) c.10088del (n.10088del) c.9984del (p.Lys3328AsnfsTer23) | COSMIC COSMIC |
13 | g.32398590A>C | CA387767913 | BRCA2 | c.*600A>C (n.*600A>C) c.*1444A>C (n.*1444A>C) c.9708A>C (p.Glu3236Asp) c.*1639A>C (n.*1639A>C) c.10026A>C (p.Glu3342Asp) c.2493A>C (p.Glu831Asp) n.2204A>C c.10077A>C (p.Glu3359Asp) c.10085A>C (n.10085A>C) c.9981A>C (p.Glu3327Asp) | |
13 | g.32398590A>G | CA483440476 | BRCA2 | c.*600A>G (n.*600A>G) c.*1444A>G (n.*1444A>G) c.9708A>G (p.Glu3236=) c.*1639A>G (n.*1639A>G) c.10026A>G (p.Glu3342=) c.2493A>G (p.Glu831=) n.2204A>G c.10077A>G (p.Glu3359=) c.10085A>G (n.10085A>G) c.9981A>G (p.Glu3327=) | gnomAD v4 |
13 | g.32398590A>T | CA387767915 | BRCA2 | c.*600A>T (n.*600A>T) c.*1444A>T (n.*1444A>T) c.9708A>T (p.Glu3236Asp) c.*1639A>T (n.*1639A>T) c.10026A>T (p.Glu3342Asp) c.2493A>T (p.Glu831Asp) n.2204A>T c.10077A>T (p.Glu3359Asp) c.10085A>T (n.10085A>T) c.9981A>T (p.Glu3327Asp) | |
13 | g.32398590_32398594delinsAAAAC | CA2082837000 | BRCA2 | c.*600_*604delinsAAAAC (n.*600_*604delinsAAAAC) c.*1444_*1448delinsAAAAC (n.*1444_*1448delinsAAAAC) c.9708_9712delinsAAAAC (p.Glu3236=) c.*1639_*1643delinsAAAAC (n.*1639_*1643delinsAAAAC) c.10026_10030delinsAAAAC (p.Glu3342=) c.2493_2497delinsAAAAC (p.Glu831=) n.2204_2208delinsAAAAC c.10077_10081delinsAAAAC (p.Glu3359=) c.10085_10089delinsAAAAC (n.10085_10089delinsAAAAC) c.9981_9985delinsAAAAC (p.Glu3327=) | |
13 | g.32398590_32398591insTTCAGTTCTTTTTTCTTT | CA2551825895 | BRCA2 | c.*600_*601insTTCAGTTCTTTTTTCTTT (n.*600_*601insTTCAGTTCTTTTTTCTTT) c.*1444_*1445insTTCAGTTCTTTTTTCTTT (n.*1444_*1445insTTCAGTTCTTTTTTCTTT) c.9708_9709insTTCAGTTCTTTTTTCTTT (p.Glu3236_Lys3237insPheSerSerPhePhePhe) c.*1639_*1640insTTCAGTTCTTTTTTCTTT (n.*1639_*1640insTTCAGTTCTTTTTTCTTT) c.10026_10027insTTCAGTTCTTTTTTCTTT (p.Glu3342_Lys3343insPheSerSerPhePhePhe) c.2493_2494insTTCAGTTCTTTTTTCTTT (p.Glu831_Lys832insPheSerSerPhePhePhe) n.2204_2205insTTCAGTTCTTTTTTCTTT c.10077_10078insTTCAGTTCTTTTTTCTTT (p.Glu3359_Lys3360insPheSerSerPhePhePhe) c.10085_10086insTTCAGTTCTTTTTTCTTT (n.10085_10086insTTCAGTTCTTTTTTCTTT) c.9981_9982insTTCAGTTCTTTTTTCTTT (p.Glu3327_Lys3328insPheSerSerPhePhePhe) | |
13 | g.32398591A= | CA2082837007 | BRCA2 | c.*601A= (n.*601A=) c.*1445A= (n.*1445A=) c.9709A= (p.Lys3237=) c.*1640A= (n.*1640A=) c.10027A= (p.Lys3343=) c.2494A= (p.Lys832=) n.2205A= c.10078A= (p.Lys3360=) c.10086A= (n.10086A=) c.9982A= (p.Lys3328=) | |
13 | g.32398591A>C | CA387767916 | BRCA2 | c.*601A>C (n.*601A>C) c.*1445A>C (n.*1445A>C) c.9709A>C (p.Lys3237Gln) c.*1640A>C (n.*1640A>C) c.10027A>C (p.Lys3343Gln) c.2494A>C (p.Lys832Gln) n.2205A>C c.10078A>C (p.Lys3360Gln) c.10086A>C (n.10086A>C) c.9982A>C (p.Lys3328Gln) | |
13 | g.32398591A>G | CA387767917 | BRCA2 | c.*601A>G (n.*601A>G) c.*1445A>G (n.*1445A>G) c.9709A>G (p.Lys3237Glu) c.*1640A>G (n.*1640A>G) c.10027A>G (p.Lys3343Glu) c.2494A>G (p.Lys832Glu) n.2205A>G c.10078A>G (p.Lys3360Glu) c.10086A>G (n.10086A>G) c.9982A>G (p.Lys3328Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32398591A>T | CA387767918 | BRCA2 | c.*601A>T (n.*601A>T) c.*1445A>T (n.*1445A>T) c.9709A>T (p.Lys3237Ter) c.*1640A>T (n.*1640A>T) c.10027A>T (p.Lys3343Ter) c.2494A>T (p.Lys832Ter) n.2205A>T c.10078A>T (p.Lys3360Ter) c.10086A>T (n.10086A>T) c.9982A>T (p.Lys3328Ter) | dbSNP |
13 | g.32398593_32398596del | CA915948635 | BRCA2 | c.*603_*606del (n.*603_*606del) c.*1447_*1450del (n.*1447_*1450del) c.9711_9714del (p.Lys3237AsnfsTer22) c.*1642_*1645del (n.*1642_*1645del) c.10029_10032del (p.Lys3343AsnfsTer22) c.2496_2499del (p.Lys832AsnfsTer22) n.2207_2210del c.10080_10083del (p.Lys3360AsnfsTer22) c.10088_10091del (n.10088_10091del) c.9984_9987del (p.Lys3328AsnfsTer22) | ClinVar dbSNP |
13 | g.32398592A>C | CA387767923 | BRCA2 | c.*602A>C (n.*602A>C) c.*1446A>C (n.*1446A>C) c.9710A>C (p.Lys3237Thr) c.*1641A>C (n.*1641A>C) c.10028A>C (p.Lys3343Thr) c.2495A>C (p.Lys832Thr) n.2206A>C c.10079A>C (p.Lys3360Thr) c.10087A>C (n.10087A>C) c.9983A>C (p.Lys3328Thr) | |
13 | g.32398592A>G | CA387767921 | BRCA2 | c.*602A>G (n.*602A>G) c.*1446A>G (n.*1446A>G) c.9710A>G (p.Lys3237Arg) c.*1641A>G (n.*1641A>G) c.10028A>G (p.Lys3343Arg) c.2495A>G (p.Lys832Arg) n.2206A>G c.10079A>G (p.Lys3360Arg) c.10087A>G (n.10087A>G) c.9983A>G (p.Lys3328Arg) | |
13 | g.32398592A>T | CA387767920 | BRCA2 | c.*602A>T (n.*602A>T) c.*1446A>T (n.*1446A>T) c.9710A>T (p.Lys3237Ile) c.*1641A>T (n.*1641A>T) c.10028A>T (p.Lys3343Ile) c.2495A>T (p.Lys832Ile) n.2206A>T c.10079A>T (p.Lys3360Ile) c.10087A>T (n.10087A>T) c.9983A>T (p.Lys3328Ile) | dbSNP |
13 | g.32398593A= | CA2082837011 | BRCA2 | c.*603A= (n.*603A=) c.*1447A= (n.*1447A=) c.9711A= (p.Lys3237=) c.*1642A= (n.*1642A=) c.10029A= (p.Lys3343=) c.2496A= (p.Lys832=) n.2207A= c.10080A= (p.Lys3360=) c.10088A= (n.10088A=) c.9984A= (p.Lys3328=) | |
13 | g.32398593A>C | CA387767924 | BRCA2 | c.*603A>C (n.*603A>C) c.*1447A>C (n.*1447A>C) c.9711A>C (p.Lys3237Asn) c.*1642A>C (n.*1642A>C) c.10029A>C (p.Lys3343Asn) c.2496A>C (p.Lys832Asn) n.2207A>C c.10080A>C (p.Lys3360Asn) c.10088A>C (n.10088A>C) c.9984A>C (p.Lys3328Asn) | dbSNP |
13 | g.32398593A>G | CA010167 | BRCA2 | c.*603A>G (n.*603A>G) c.*1447A>G (n.*1447A>G) c.9711A>G (p.Lys3237=) c.*1642A>G (n.*1642A>G) c.10029A>G (p.Lys3343=) c.2496A>G (p.Lys832=) n.2207A>G c.10080A>G (p.Lys3360=) c.10088A>G (n.10088A>G) c.9984A>G (p.Lys3328=) | ClinVar dbSNP gnomAD v4 |
13 | g.32398593A>T | CA387767927 | BRCA2 | c.*603A>T (n.*603A>T) c.*1447A>T (n.*1447A>T) c.9711A>T (p.Lys3237Asn) c.*1642A>T (n.*1642A>T) c.10029A>T (p.Lys3343Asn) c.2496A>T (p.Lys832Asn) n.2207A>T c.10080A>T (p.Lys3360Asn) c.10088A>T (n.10088A>T) c.9984A>T (p.Lys3328Asn) | dbSNP |
13 | g.32398594C>A | CA387767929 | BRCA2 | c.*604C>A (n.*604C>A) c.*1448C>A (n.*1448C>A) c.9712C>A (p.Gln3238Lys) c.*1643C>A (n.*1643C>A) c.10030C>A (p.Gln3344Lys) c.2497C>A (p.Gln833Lys) n.2208C>A c.10081C>A (p.Gln3361Lys) c.10089C>A (n.10089C>A) c.9985C>A (p.Gln3329Lys) | ClinVar |
13 | g.32398594C>G | CA387767930 | BRCA2 | c.*604C>G (n.*604C>G) c.*1448C>G (n.*1448C>G) c.9712C>G (p.Gln3238Glu) c.*1643C>G (n.*1643C>G) c.10030C>G (p.Gln3344Glu) c.2497C>G (p.Gln833Glu) n.2208C>G c.10081C>G (p.Gln3361Glu) c.10089C>G (n.10089C>G) c.9985C>G (p.Gln3329Glu) | |
13 | g.32398594C>T | CA387767931 | BRCA2 | c.*604C>T (n.*604C>T) c.*1448C>T (n.*1448C>T) c.9712C>T (p.Gln3238Ter) c.*1643C>T (n.*1643C>T) c.10030C>T (p.Gln3344Ter) c.2497C>T (p.Gln833Ter) n.2208C>T c.10081C>T (p.Gln3361Ter) c.10089C>T (n.10089C>T) c.9985C>T (p.Gln3329Ter) | ClinVar dbSNP |
13 | g.32398595A= | CA2082837019 | BRCA2 | c.*605A= (n.*605A=) c.*1449A= (n.*1449A=) c.9713A= (p.Gln3238=) c.*1644A= (n.*1644A=) c.10031A= (p.Gln3344=) c.2498A= (p.Gln833=) n.2209A= c.10082A= (p.Gln3361=) c.10090A= (n.10090A=) c.9986A= (p.Gln3329=) | |
13 | g.32398595A>C | CA6941471 | BRCA2 | c.*605A>C (n.*605A>C) c.*1449A>C (n.*1449A>C) c.9713A>C (p.Gln3238Pro) c.*1644A>C (n.*1644A>C) c.10031A>C (p.Gln3344Pro) c.2498A>C (p.Gln833Pro) n.2209A>C c.10082A>C (p.Gln3361Pro) c.10090A>C (n.10090A>C) c.9986A>C (p.Gln3329Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398595A>G | CA387767935 | BRCA2 | c.*605A>G (n.*605A>G) c.*1449A>G (n.*1449A>G) c.9713A>G (p.Gln3238Arg) c.*1644A>G (n.*1644A>G) c.10031A>G (p.Gln3344Arg) c.2498A>G (p.Gln833Arg) n.2209A>G c.10082A>G (p.Gln3361Arg) c.10090A>G (n.10090A>G) c.9986A>G (p.Gln3329Arg) | |
13 | g.32398595A>T | CA387767934 | BRCA2 | c.*605A>T (n.*605A>T) c.*1449A>T (n.*1449A>T) c.9713A>T (p.Gln3238Leu) c.*1644A>T (n.*1644A>T) c.10031A>T (p.Gln3344Leu) c.2498A>T (p.Gln833Leu) n.2209A>T c.10082A>T (p.Gln3361Leu) c.10090A>T (n.10090A>T) c.9986A>T (p.Gln3329Leu) | |
13 | g.32398595_32398599delinsAATTT | CA2082837025 | BRCA2 | c.*605_*609delinsAATTT (n.*605_*609delinsAATTT) c.*1449_*1453delinsAATTT (n.*1449_*1453delinsAATTT) c.9713_9717delinsAATTT (p.Gln3238=) c.*1644_*1648delinsAATTT (n.*1644_*1648delinsAATTT) c.10031_10035delinsAATTT (p.Gln3344=) c.2498_2502delinsAATTT (p.Gln833=) n.2209_2213delinsAATTT c.10082_10086delinsAATTT (p.Gln3361=) c.10090_10094delinsAATTT (n.10090_10094delinsAATTT) c.9986_9990delinsAATTT (p.Gln3329=) | |
13 | g.32398599_32398884del | CA2580611892 | BRCA2 | c.*609_*894del (n.*609_*894del) c.*1453_*1738del (n.*1453_*1738del) c.9717_*114del (n.[c.9717_*114del;Phe3239LeufsTer?]) c.*1648_*1933del (n.*1648_*1933del) c.10035_*114del (n.[c.10035_*114del;Phe3345LeufsTer?]) n.2213_2498del c.10086_*114del (n.[c.10086_*114del;Phe3362LeufsTer?]) c.10094_10379del (n.10094_10379del) c.9990_*114del (n.[c.9990_*114del;Phe3330LeufsTer?]) | |
13 | g.32398596A= | CA2082837038 | BRCA2 | c.*606A= (n.*606A=) c.*1450A= (n.*1450A=) c.9714A= (p.Gln3238=) c.*1645A= (n.*1645A=) c.10032A= (p.Gln3344=) c.2499A= (p.Gln833=) n.2210A= c.10083A= (p.Gln3361=) c.10091A= (n.10091A=) c.9987A= (p.Gln3329=) | |
13 | g.32398596A>C | CA387767937 | BRCA2 | c.*606A>C (n.*606A>C) c.*1450A>C (n.*1450A>C) c.9714A>C (p.Gln3238His) c.*1645A>C (n.*1645A>C) c.10032A>C (p.Gln3344His) c.2499A>C (p.Gln833His) n.2210A>C c.10083A>C (p.Gln3361His) c.10091A>C (n.10091A>C) c.9987A>C (p.Gln3329His) | ClinVar dbSNP |
13 | g.32398596A>G | CA483440488 | BRCA2 | c.*606A>G (n.*606A>G) c.*1450A>G (n.*1450A>G) c.9714A>G (p.Gln3238=) c.*1645A>G (n.*1645A>G) c.10032A>G (p.Gln3344=) c.2499A>G (p.Gln833=) n.2210A>G c.10083A>G (p.Gln3361=) c.10091A>G (n.10091A>G) c.9987A>G (p.Gln3329=) | ClinVar dbSNP |
13 | g.32398596A>T | CA387767938 | BRCA2 | c.*606A>T (n.*606A>T) c.*1450A>T (n.*1450A>T) c.9714A>T (p.Gln3238His) c.*1645A>T (n.*1645A>T) c.10032A>T (p.Gln3344His) c.2499A>T (p.Gln833His) n.2210A>T c.10083A>T (p.Gln3361His) c.10091A>T (n.10091A>T) c.9987A>T (p.Gln3329His) | ClinVar |
13 | g.32398598_32398601del | CA16619802 | BRCA2 | c.*608_*611del (n.*608_*611del) c.*1452_*1455del (n.*1452_*1455del) c.9716_9719del (p.Phe3239TyrfsTer20) c.*1647_*1650del (n.*1647_*1650del) c.10034_10037del (p.Phe3345TyrfsTer20) c.2501_2504del (p.Phe834TyrfsTer20) n.2212_2215del c.10085_10088del (p.Phe3362TyrfsTer20) c.10093_10096del (n.10093_10096del) c.9989_9992del (p.Phe3330TyrfsTer20) | ClinVar dbSNP |
13 | g.32398597T>A | CA387767940 | BRCA2 | c.*607T>A (n.*607T>A) c.*1451T>A (n.*1451T>A) c.9715T>A (p.Phe3239Ile) c.*1646T>A (n.*1646T>A) c.10033T>A (p.Phe3345Ile) c.2500T>A (p.Phe834Ile) n.2211T>A c.10084T>A (p.Phe3362Ile) c.10092T>A (n.10092T>A) c.9988T>A (p.Phe3330Ile) | dbSNP |
13 | g.32398597T>C | CA387767942 | BRCA2 | c.*607T>C (n.*607T>C) c.*1451T>C (n.*1451T>C) c.9715T>C (p.Phe3239Leu) c.*1646T>C (n.*1646T>C) c.10033T>C (p.Phe3345Leu) c.2500T>C (p.Phe834Leu) n.2211T>C c.10084T>C (p.Phe3362Leu) c.10092T>C (n.10092T>C) c.9988T>C (p.Phe3330Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32398597T>G | CA387767944 | BRCA2 | c.*607T>G (n.*607T>G) c.*1451T>G (n.*1451T>G) c.9715T>G (p.Phe3239Val) c.*1646T>G (n.*1646T>G) c.10033T>G (p.Phe3345Val) c.2500T>G (p.Phe834Val) n.2211T>G c.10084T>G (p.Phe3362Val) c.10092T>G (n.10092T>G) c.9988T>G (p.Phe3330Val) | |
13 | g.32398597T= | CA2082837043 | BRCA2 | c.*607T= (n.*607T=) c.*1451T= (n.*1451T=) c.9715T= (p.Phe3239=) c.*1646T= (n.*1646T=) c.10033T= (p.Phe3345=) c.2500T= (p.Phe834=) n.2211T= c.10084T= (p.Phe3362=) c.10092T= (n.10092T=) c.9988T= (p.Phe3330=) | |
13 | g.32398598T>A | CA387767945 | BRCA2 | c.*608T>A (n.*608T>A) c.*1452T>A (n.*1452T>A) c.9716T>A (p.Phe3239Tyr) c.*1647T>A (n.*1647T>A) c.10034T>A (p.Phe3345Tyr) c.2501T>A (p.Phe834Tyr) n.2212T>A c.10085T>A (p.Phe3362Tyr) c.10093T>A (n.10093T>A) c.9989T>A (p.Phe3330Tyr) | dbSNP |
13 | g.32398598T>C | CA010174 | BRCA2 | c.*608T>C (n.*608T>C) c.*1452T>C (n.*1452T>C) c.9716T>C (p.Phe3239Ser) c.*1647T>C (n.*1647T>C) c.10034T>C (p.Phe3345Ser) c.2501T>C (p.Phe834Ser) n.2212T>C c.10085T>C (p.Phe3362Ser) c.10093T>C (n.10093T>C) c.9989T>C (p.Phe3330Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32398598T>G | CA387767947 | BRCA2 | c.*608T>G (n.*608T>G) c.*1452T>G (n.*1452T>G) c.9716T>G (p.Phe3239Cys) c.*1647T>G (n.*1647T>G) c.10034T>G (p.Phe3345Cys) c.2501T>G (p.Phe834Cys) n.2212T>G c.10085T>G (p.Phe3362Cys) c.10093T>G (n.10093T>G) c.9989T>G (p.Phe3330Cys) | |
13 | g.32398598T= | CA2082837053 | BRCA2 | c.*608T= (n.*608T=) c.*1452T= (n.*1452T=) c.9716T= (p.Phe3239=) c.*1647T= (n.*1647T=) c.10034T= (p.Phe3345=) c.2501T= (p.Phe834=) n.2212T= c.10085T= (p.Phe3362=) c.10093T= (n.10093T=) c.9989T= (p.Phe3330=) | |
13 | g.32398599T>A | CA387767949 | BRCA2 | c.*609T>A (n.*609T>A) c.*1453T>A (n.*1453T>A) c.9717T>A (p.Phe3239Leu) c.*1648T>A (n.*1648T>A) c.10035T>A (p.Phe3345Leu) c.2502T>A (p.Phe834Leu) n.2213T>A c.10086T>A (p.Phe3362Leu) c.10094T>A (n.10094T>A) c.9990T>A (p.Phe3330Leu) | dbSNP |
13 | g.32398599T>C | CA483440493 | BRCA2 | c.*609T>C (n.*609T>C) c.*1453T>C (n.*1453T>C) c.9717T>C (p.Phe3239=) c.*1648T>C (n.*1648T>C) c.10035T>C (p.Phe3345=) c.2502T>C (p.Phe834=) n.2213T>C c.10086T>C (p.Phe3362=) c.10094T>C (n.10094T>C) c.9990T>C (p.Phe3330=) | ClinVar dbSNP gnomAD v4 |
13 | g.32398599T>G | CA387767951 | BRCA2 | c.*609T>G (n.*609T>G) c.*1453T>G (n.*1453T>G) c.9717T>G (p.Phe3239Leu) c.*1648T>G (n.*1648T>G) c.10035T>G (p.Phe3345Leu) c.2502T>G (p.Phe834Leu) n.2213T>G c.10086T>G (p.Phe3362Leu) c.10094T>G (n.10094T>G) c.9990T>G (p.Phe3330Leu) |