UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.32398296C>A | CA387765925 | BRCA2 | c.*306C>A (n.*306C>A) c.*1150C>A (n.*1150C>A) c.9414C>A (p.Asp3138Glu) c.*1345C>A (n.*1345C>A) c.9732C>A (p.Asp3244Glu) c.2199C>A (p.Asp733Glu) n.1910C>A c.9783C>A (p.Asp3261Glu) c.9791C>A (n.9791C>A) n.371C>A c.9687C>A (p.Asp3229Glu) | dbSNP |
| 13 | g.32398296C= | CA2082835109 | BRCA2 | c.*306C= (n.*306C=) c.*1150C= (n.*1150C=) c.9414C= (p.Asp3138=) c.*1345C= (n.*1345C=) c.9732C= (p.Asp3244=) c.2199C= (p.Asp733=) n.1910C= c.9783C= (p.Asp3261=) c.9791C= (n.9791C=) n.371C= c.9687C= (p.Asp3229=) | |
| 13 | g.32398296C>G | CA387765929 | BRCA2 | c.*306C>G (n.*306C>G) c.*1150C>G (n.*1150C>G) c.9414C>G (p.Asp3138Glu) c.*1345C>G (n.*1345C>G) c.9732C>G (p.Asp3244Glu) c.2199C>G (p.Asp733Glu) n.1910C>G c.9783C>G (p.Asp3261Glu) c.9791C>G (n.9791C>G) n.371C>G c.9687C>G (p.Asp3229Glu) | ClinVar dbSNP |
| 13 | g.32398296C>T | CA10579845 | BRCA2 | c.*306C>T (n.*306C>T) c.*1150C>T (n.*1150C>T) c.9414C>T (p.Asp3138=) c.*1345C>T (n.*1345C>T) c.9732C>T (p.Asp3244=) c.2199C>T (p.Asp733=) n.1910C>T c.9783C>T (p.Asp3261=) c.9791C>T (n.9791C>T) n.371C>T c.9687C>T (p.Asp3229=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398297C>A | CA387765936 | BRCA2 | c.*307C>A (n.*307C>A) c.*1151C>A (n.*1151C>A) c.9415C>A (p.Gln3139Lys) c.*1346C>A (n.*1346C>A) c.9733C>A (p.Gln3245Lys) c.2200C>A (p.Gln734Lys) n.1911C>A c.9784C>A (p.Gln3262Lys) c.9792C>A (n.9792C>A) n.372C>A c.9688C>A (p.Gln3230Lys) | dbSNP |
| 13 | g.32398297C= | CA2082835128 | BRCA2 | c.*307C= (n.*307C=) c.*1151C= (n.*1151C=) c.9415C= (p.Gln3139=) c.*1346C= (n.*1346C=) c.9733C= (p.Gln3245=) c.2200C= (p.Gln734=) n.1911C= c.9784C= (p.Gln3262=) c.9792C= (n.9792C=) n.372C= c.9688C= (p.Gln3230=) | |
| 13 | g.32398297C>G | CA387765940 | BRCA2 | c.*307C>G (n.*307C>G) c.*1151C>G (n.*1151C>G) c.9415C>G (p.Gln3139Glu) c.*1346C>G (n.*1346C>G) c.9733C>G (p.Gln3245Glu) c.2200C>G (p.Gln734Glu) n.1911C>G c.9784C>G (p.Gln3262Glu) c.9792C>G (n.9792C>G) n.372C>G c.9688C>G (p.Gln3230Glu) | ClinVar dbSNP |
| 13 | g.32398297C>T | CA387765945 | BRCA2 | c.*307C>T (n.*307C>T) c.*1151C>T (n.*1151C>T) c.9415C>T (p.Gln3139Ter) c.*1346C>T (n.*1346C>T) c.9733C>T (p.Gln3245Ter) c.2200C>T (p.Gln734Ter) n.1911C>T c.9784C>T (p.Gln3262Ter) c.9792C>T (n.9792C>T) n.372C>T c.9688C>T (p.Gln3230Ter) | ClinVar dbSNP |
| 13 | g.32398297_32398298delinsCA | CA2082835136 | BRCA2 | c.*307_*308delinsCA (n.*307_*308delinsCA) c.*1151_*1152delinsCA (n.*1151_*1152delinsCA) c.9415_9416delinsCA (p.Gln3139=) c.*1346_*1347delinsCA (n.*1346_*1347delinsCA) c.9733_9734delinsCA (p.Gln3245=) c.2200_2201delinsCA (p.Gln734=) n.1911_1912delinsCA c.9784_9785delinsCA (p.Gln3262=) c.9792_9793delinsCA (n.9792_9793delinsCA) n.372_373delinsCA c.9688_9689delinsCA (p.Gln3230=) | |
| 13 | g.32398298A= | CA2082835145 | BRCA2 | c.*308A= (n.*308A=) c.*1152A= (n.*1152A=) c.9416A= (p.Gln3139=) c.*1347A= (n.*1347A=) c.9734A= (p.Gln3245=) c.2201A= (p.Gln734=) n.1912A= c.9785A= (p.Gln3262=) c.9793A= (n.9793A=) n.373A= c.9689A= (p.Gln3230=) | |
| 13 | g.32398298A>C | CA387765948 | BRCA2 | c.*308A>C (n.*308A>C) c.*1152A>C (n.*1152A>C) c.9416A>C (p.Gln3139Pro) c.*1347A>C (n.*1347A>C) c.9734A>C (p.Gln3245Pro) c.2201A>C (p.Gln734Pro) n.1912A>C c.9785A>C (p.Gln3262Pro) c.9793A>C (n.9793A>C) n.373A>C c.9689A>C (p.Gln3230Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32398298A>G | CA387765950 | BRCA2 | c.*308A>G (n.*308A>G) c.*1152A>G (n.*1152A>G) c.9416A>G (p.Gln3139Arg) c.*1347A>G (n.*1347A>G) c.9734A>G (p.Gln3245Arg) c.2201A>G (p.Gln734Arg) n.1912A>G c.9785A>G (p.Gln3262Arg) c.9793A>G (n.9793A>G) n.373A>G c.9689A>G (p.Gln3230Arg) | ClinVar dbSNP |
| 13 | g.32398298A>T | CA387765954 | BRCA2 | c.*308A>T (n.*308A>T) c.*1152A>T (n.*1152A>T) c.9416A>T (p.Gln3139Leu) c.*1347A>T (n.*1347A>T) c.9734A>T (p.Gln3245Leu) c.2201A>T (p.Gln734Leu) n.1912A>T c.9785A>T (p.Gln3262Leu) c.9793A>T (n.9793A>T) n.373A>T c.9689A>T (p.Gln3230Leu) | dbSNP |
| 13 | g.32398301del | CA919242998 | BRCA2 | c.*311del (n.*311del) c.*1155del (n.*1155del) c.9419del (p.Lys3140ArgfsTer12) c.*1350del (n.*1350del) c.9737del (p.Lys3246ArgfsTer12) c.2204del (p.Lys735ArgfsTer12) n.1915del c.9788del (p.Lys3263ArgfsTer12) c.9796del (n.9796del) n.376del c.9692del (p.Lys3231ArgfsTer12) | dbSNP |
| 13 | g.32398299A= | CA2082835152 | BRCA2 | c.*309A= (n.*309A=) c.*1153A= (n.*1153A=) c.9417A= (p.Gln3139=) c.*1348A= (n.*1348A=) c.9735A= (p.Gln3245=) c.2202A= (p.Gln734=) n.1913A= c.9786A= (p.Gln3262=) c.9794A= (n.9794A=) n.374A= c.9690A= (p.Gln3230=) | |
| 13 | g.32398299A>C | CA387765957 | BRCA2 | c.*309A>C (n.*309A>C) c.*1153A>C (n.*1153A>C) c.9417A>C (p.Gln3139His) c.*1348A>C (n.*1348A>C) c.9735A>C (p.Gln3245His) c.2202A>C (p.Gln734His) n.1913A>C c.9786A>C (p.Gln3262His) c.9794A>C (n.9794A>C) n.374A>C c.9690A>C (p.Gln3230His) | |
| 13 | g.32398299A>G | CA483440066 | BRCA2 | c.*309A>G (n.*309A>G) c.*1153A>G (n.*1153A>G) c.9417A>G (p.Gln3139=) c.*1348A>G (n.*1348A>G) c.9735A>G (p.Gln3245=) c.2202A>G (p.Gln734=) n.1913A>G c.9786A>G (p.Gln3262=) c.9794A>G (n.9794A>G) n.374A>G c.9690A>G (p.Gln3230=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398299A>T | CA387765961 | BRCA2 | c.*309A>T (n.*309A>T) c.*1153A>T (n.*1153A>T) c.9417A>T (p.Gln3139His) c.*1348A>T (n.*1348A>T) c.9735A>T (p.Gln3245His) c.2202A>T (p.Gln734His) n.1913A>T c.9786A>T (p.Gln3262His) c.9794A>T (n.9794A>T) n.374A>T c.9690A>T (p.Gln3230His) | dbSNP |
| 13 | g.32398300A= | CA2082835160 | BRCA2 | c.*310A= (n.*310A=) c.*1154A= (n.*1154A=) c.9418A= (p.Lys3140=) c.*1349A= (n.*1349A=) c.9736A= (p.Lys3246=) c.2203A= (p.Lys735=) n.1914A= c.9787A= (p.Lys3263=) c.9795A= (n.9795A=) n.375A= c.9691A= (p.Lys3231=) | |
| 13 | g.32398300A>C | CA387765979 | BRCA2 | c.*310A>C (n.*310A>C) c.*1154A>C (n.*1154A>C) c.9418A>C (p.Lys3140Gln) c.*1349A>C (n.*1349A>C) c.9736A>C (p.Lys3246Gln) c.2203A>C (p.Lys735Gln) n.1914A>C c.9787A>C (p.Lys3263Gln) c.9795A>C (n.9795A>C) n.375A>C c.9691A>C (p.Lys3231Gln) | |
| 13 | g.32398300A>G | CA387765972 | BRCA2 | c.*310A>G (n.*310A>G) c.*1154A>G (n.*1154A>G) c.9418A>G (p.Lys3140Glu) c.*1349A>G (n.*1349A>G) c.9736A>G (p.Lys3246Glu) c.2203A>G (p.Lys735Glu) n.1914A>G c.9787A>G (p.Lys3263Glu) c.9795A>G (n.9795A>G) n.375A>G c.9691A>G (p.Lys3231Glu) | ClinVar dbSNP |
| 13 | g.32398300A>T | CA387765968 | BRCA2 | c.*310A>T (n.*310A>T) c.*1154A>T (n.*1154A>T) c.9418A>T (p.Lys3140Ter) c.*1349A>T (n.*1349A>T) c.9736A>T (p.Lys3246Ter) c.2203A>T (p.Lys735Ter) n.1914A>T c.9787A>T (p.Lys3263Ter) c.9795A>T (n.9795A>T) n.375A>T c.9691A>T (p.Lys3231Ter) | dbSNP |
| 13 | g.32398300_32398302delinsAAG | CA2082835159 | BRCA2 | c.*310_*312delinsAAG (n.*310_*312delinsAAG) c.*1154_*1156delinsAAG (n.*1154_*1156delinsAAG) c.9418_9420delinsAAG (p.Lys3140=) c.*1349_*1351delinsAAG (n.*1349_*1351delinsAAG) c.9736_9738delinsAAG (p.Lys3246=) c.2203_2205delinsAAG (p.Lys735=) n.1914_1916delinsAAG c.9787_9789delinsAAG (p.Lys3263=) c.9795_9797delinsAAG (n.9795_9797delinsAAG) n.375_377delinsAAG c.9691_9693delinsAAG (p.Lys3231=) | |
| 13 | g.32398301A>C | CA387765993 | BRCA2 | c.*311A>C (n.*311A>C) c.*1155A>C (n.*1155A>C) c.9419A>C (p.Lys3140Thr) c.*1350A>C (n.*1350A>C) c.9737A>C (p.Lys3246Thr) c.2204A>C (p.Lys735Thr) n.1915A>C c.9788A>C (p.Lys3263Thr) c.9796A>C (n.9796A>C) n.376A>C c.9692A>C (p.Lys3231Thr) | |
| 13 | g.32398301A>G | CA387765983 | BRCA2 | c.*311A>G (n.*311A>G) c.*1155A>G (n.*1155A>G) c.9419A>G (p.Lys3140Arg) c.*1350A>G (n.*1350A>G) c.9737A>G (p.Lys3246Arg) c.2204A>G (p.Lys735Arg) n.1915A>G c.9788A>G (p.Lys3263Arg) c.9796A>G (n.9796A>G) n.376A>G c.9692A>G (p.Lys3231Arg) | dbSNP |
| 13 | g.32398301A>T | CA387765987 | BRCA2 | c.*311A>T (n.*311A>T) c.*1155A>T (n.*1155A>T) c.9419A>T (p.Lys3140Met) c.*1350A>T (n.*1350A>T) c.9737A>T (p.Lys3246Met) c.2204A>T (p.Lys735Met) n.1915A>T c.9788A>T (p.Lys3263Met) c.9796A>T (n.9796A>T) n.376A>T c.9692A>T (p.Lys3231Met) | dbSNP |
| 13 | g.32398302_32398303del | CA10589574 | BRCA2 | c.*312_*313del (n.*312_*313del) c.*1156_*1157del (n.*1156_*1157del) c.9420_9421del (p.Asn3141LeufsTer12) c.*1351_*1352del (n.*1351_*1352del) c.9738_9739del (p.Asn3247LeufsTer12) c.2205_2206del (p.Asn736LeufsTer12) n.1916_1917del c.9789_9790del (p.Asn3264LeufsTer12) c.9797_9798del (n.9797_9798del) n.377_378del c.9693_9694del (p.Asn3232LeufsTer12) | ClinVar dbSNP |
| 13 | g.32398302G>A | CA483440070 | BRCA2 | c.*312G>A (n.*312G>A) c.*1156G>A (n.*1156G>A) c.9420G>A (p.Lys3140=) c.*1351G>A (n.*1351G>A) c.9738G>A (p.Lys3246=) c.2205G>A (p.Lys735=) n.1916G>A c.9789G>A (p.Lys3263=) c.9797G>A (n.9797G>A) n.377G>A c.9693G>A (p.Lys3231=) | ClinVar dbSNP |
| 13 | g.32398302G>C | CA387765996 | BRCA2 | c.*312G>C (n.*312G>C) c.*1156G>C (n.*1156G>C) c.9420G>C (p.Lys3140Asn) c.*1351G>C (n.*1351G>C) c.9738G>C (p.Lys3246Asn) c.2205G>C (p.Lys735Asn) n.1916G>C c.9789G>C (p.Lys3263Asn) c.9797G>C (n.9797G>C) n.377G>C c.9693G>C (p.Lys3231Asn) | dbSNP |
| 13 | g.32398302G= | CA2082835179 | BRCA2 | c.*312G= (n.*312G=) c.*1156G= (n.*1156G=) c.9420G= (p.Lys3140=) c.*1351G= (n.*1351G=) c.9738G= (p.Lys3246=) c.2205G= (p.Lys735=) n.1916G= c.9789G= (p.Lys3263=) c.9797G= (n.9797G=) n.377G= c.9693G= (p.Lys3231=) | |
| 13 | g.32398302G>T | CA387765997 | BRCA2 | c.*312G>T (n.*312G>T) c.*1156G>T (n.*1156G>T) c.9420G>T (p.Lys3140Asn) c.*1351G>T (n.*1351G>T) c.9738G>T (p.Lys3246Asn) c.2205G>T (p.Lys735Asn) n.1916G>T c.9789G>T (p.Lys3263Asn) c.9797G>T (n.9797G>T) n.377G>T c.9693G>T (p.Lys3231Asn) | ClinVar dbSNP |
| 13 | g.32398303A>C | CA387765998 | BRCA2 | c.*313A>C (n.*313A>C) c.*1157A>C (n.*1157A>C) c.9421A>C (p.Asn3141His) c.*1352A>C (n.*1352A>C) c.9739A>C (p.Asn3247His) c.2206A>C (p.Asn736His) n.1917A>C c.9790A>C (p.Asn3264His) c.9798A>C (n.9798A>C) n.378A>C c.9694A>C (p.Asn3232His) | |
| 13 | g.32398303A>G | CA387765999 | BRCA2 | c.*313A>G (n.*313A>G) c.*1157A>G (n.*1157A>G) c.9421A>G (p.Asn3141Asp) c.*1352A>G (n.*1352A>G) c.9739A>G (p.Asn3247Asp) c.2206A>G (p.Asn736Asp) n.1917A>G c.9790A>G (p.Asn3264Asp) c.9798A>G (n.9798A>G) n.378A>G c.9694A>G (p.Asn3232Asp) | dbSNP |
| 13 | g.32398303A>T | CA387766000 | BRCA2 | c.*313A>T (n.*313A>T) c.*1157A>T (n.*1157A>T) c.9421A>T (p.Asn3141Tyr) c.*1352A>T (n.*1352A>T) c.9739A>T (p.Asn3247Tyr) c.2206A>T (p.Asn736Tyr) n.1917A>T c.9790A>T (p.Asn3264Tyr) c.9798A>T (n.9798A>T) n.378A>T c.9694A>T (p.Asn3232Tyr) | dbSNP |
| 13 | g.32398304A>C | CA387766002 | BRCA2 | c.*314A>C (n.*314A>C) c.*1158A>C (n.*1158A>C) c.9422A>C (p.Asn3141Thr) c.*1353A>C (n.*1353A>C) c.9740A>C (p.Asn3247Thr) c.2207A>C (p.Asn736Thr) n.1918A>C c.9791A>C (p.Asn3264Thr) c.9799A>C (n.9799A>C) n.379A>C c.9695A>C (p.Asn3232Thr) | |
| 13 | g.32398304A>G | CA387766004 | BRCA2 | c.*314A>G (n.*314A>G) c.*1158A>G (n.*1158A>G) c.9422A>G (p.Asn3141Ser) c.*1353A>G (n.*1353A>G) c.9740A>G (p.Asn3247Ser) c.2207A>G (p.Asn736Ser) n.1918A>G c.9791A>G (p.Asn3264Ser) c.9799A>G (n.9799A>G) n.379A>G c.9695A>G (p.Asn3232Ser) | |
| 13 | g.32398304A>T | CA387766006 | BRCA2 | c.*314A>T (n.*314A>T) c.*1158A>T (n.*1158A>T) c.9422A>T (p.Asn3141Ile) c.*1353A>T (n.*1353A>T) c.9740A>T (p.Asn3247Ile) c.2207A>T (p.Asn736Ile) n.1918A>T c.9791A>T (p.Asn3264Ile) c.9799A>T (n.9799A>T) n.379A>T c.9695A>T (p.Asn3232Ile) | dbSNP |
| 13 | g.32398305C>A | CA387766009 | BRCA2 | c.*315C>A (n.*315C>A) c.*1159C>A (n.*1159C>A) c.9423C>A (p.Asn3141Lys) c.*1354C>A (n.*1354C>A) c.9741C>A (p.Asn3247Lys) c.2208C>A (p.Asn736Lys) n.1919C>A c.9792C>A (p.Asn3264Lys) c.9800C>A (n.9800C>A) n.380C>A c.9696C>A (p.Asn3232Lys) | ClinVar dbSNP |
| 13 | g.32398305C= | CA2082835186 | BRCA2 | c.*315C= (n.*315C=) c.*1159C= (n.*1159C=) c.9423C= (p.Asn3141=) c.*1354C= (n.*1354C=) c.9741C= (p.Asn3247=) c.2208C= (p.Asn736=) n.1919C= c.9792C= (p.Asn3264=) c.9800C= (n.9800C=) n.380C= c.9696C= (p.Asn3232=) | |
| 13 | g.32398305C>G | CA387766014 | BRCA2 | c.*315C>G (n.*315C>G) c.*1159C>G (n.*1159C>G) c.9423C>G (p.Asn3141Lys) c.*1354C>G (n.*1354C>G) c.9741C>G (p.Asn3247Lys) c.2208C>G (p.Asn736Lys) n.1919C>G c.9792C>G (p.Asn3264Lys) c.9800C>G (n.9800C>G) n.380C>G c.9696C>G (p.Asn3232Lys) | dbSNP |
| 13 | g.32398305C>T | CA483440075 | BRCA2 | c.*315C>T (n.*315C>T) c.*1159C>T (n.*1159C>T) c.9423C>T (p.Asn3141=) c.*1354C>T (n.*1354C>T) c.9741C>T (p.Asn3247=) c.2208C>T (p.Asn736=) n.1919C>T c.9792C>T (p.Asn3264=) c.9800C>T (n.9800C>T) n.380C>T c.9696C>T (p.Asn3232=) | ClinVar dbSNP |
| 13 | g.32398306T>A | CA387766023 | BRCA2 | c.*316T>A (n.*316T>A) c.*1160T>A (n.*1160T>A) c.9424T>A (p.Cys3142Ser) c.*1355T>A (n.*1355T>A) c.9742T>A (p.Cys3248Ser) c.2209T>A (p.Cys737Ser) n.1920T>A c.9793T>A (p.Cys3265Ser) c.9801T>A (n.9801T>A) n.381T>A c.9697T>A (p.Cys3233Ser) | ClinVar dbSNP |
| 13 | g.32398306T>C | CA026297 | BRCA2 | c.*316T>C (n.*316T>C) c.*1160T>C (n.*1160T>C) c.9424T>C (p.Cys3142Arg) c.*1355T>C (n.*1355T>C) c.9742T>C (p.Cys3248Arg) c.2209T>C (p.Cys737Arg) n.1920T>C c.9793T>C (p.Cys3265Arg) c.9801T>C (n.9801T>C) n.381T>C c.9697T>C (p.Cys3233Arg) | ClinVar dbSNP |
| 13 | g.32398306T>G | CA387766019 | BRCA2 | c.*316T>G (n.*316T>G) c.*1160T>G (n.*1160T>G) c.9424T>G (p.Cys3142Gly) c.*1355T>G (n.*1355T>G) c.9742T>G (p.Cys3248Gly) c.2209T>G (p.Cys737Gly) n.1920T>G c.9793T>G (p.Cys3265Gly) c.9801T>G (n.9801T>G) n.381T>G c.9697T>G (p.Cys3233Gly) | ClinVar dbSNP |
| 13 | g.32398306T= | CA2082835195 | BRCA2 | c.*316T= (n.*316T=) c.*1160T= (n.*1160T=) c.9424T= (p.Cys3142=) c.*1355T= (n.*1355T=) c.9742T= (p.Cys3248=) c.2209T= (p.Cys737=) n.1920T= c.9793T= (p.Cys3265=) c.9801T= (n.9801T=) n.381T= c.9697T= (p.Cys3233=) | |
| 13 | g.32398307G>A | CA247509053 | BRCA2 | c.*317G>A (n.*317G>A) c.*1161G>A (n.*1161G>A) c.9425G>A (p.Cys3142Tyr) c.*1356G>A (n.*1356G>A) c.9743G>A (p.Cys3248Tyr) c.2210G>A (p.Cys737Tyr) n.1921G>A c.9794G>A (p.Cys3265Tyr) c.9802G>A (n.9802G>A) n.382G>A c.9698G>A (p.Cys3233Tyr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398307G>C | CA387766030 | BRCA2 | c.*317G>C (n.*317G>C) c.*1161G>C (n.*1161G>C) c.9425G>C (p.Cys3142Ser) c.*1356G>C (n.*1356G>C) c.9743G>C (p.Cys3248Ser) c.2210G>C (p.Cys737Ser) n.1921G>C c.9794G>C (p.Cys3265Ser) c.9802G>C (n.9802G>C) n.382G>C c.9698G>C (p.Cys3233Ser) | dbSNP |