| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32337677_32337755del | CA2739299255 | BRCA2 | c.3322_3400del (p.Lys1108AlafsTer16) c.2953_3031del (p.Lys985AlafsTer16) n.3322_3400del | |
| 13 | g.32337697_32337703del | CA2580087065 | BRCA2 | c.3342_3348del (p.Ser1115TyrfsTer2) c.2973_2979del (p.Ser992TyrfsTer2) n.3342_3348del | ClinVar |
| 13 | g.32337698_32337699delinsTC | CA2082816217 | BRCA2 | c.3343_3344delinsTC (p.Ser1115=) c.2974_2975delinsTC (p.Ser992=) n.3343_3344delinsTC | |
| 13 | g.32337699del | CA645372955 | BRCA2 | c.3344del (p.Ser1115LeufsTer4) c.2975del (p.Ser992LeufsTer4) n.3344del | ClinVar dbSNP |
| 13 | g.32337699C>A | CA387776323 | BRCA2 | c.3344C>A (p.Ser1115Tyr) c.2975C>A (p.Ser992Tyr) n.3344C>A | ClinVar dbSNP |
| 13 | g.32337699C= | CA2082816228 | BRCA2 | c.3344C= (p.Ser1115=) c.2975C= (p.Ser992=) n.3344C= | |
| 13 | g.32337699C>G | CA10586064 | BRCA2 | c.3344C>G (p.Ser1115Cys) c.2975C>G (p.Ser992Cys) n.3344C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337699C>T | CA247504849 | BRCA2 | c.3344C>T (p.Ser1115Phe) c.2975C>T (p.Ser992Phe) n.3344C>T | ClinVar dbSNP |
| 13 | g.32337700del | CA2499222128 | BRCA2 | c.3345del (p.Thr1116LeufsTer3) c.2976del (p.Thr993LeufsTer3) n.3345del | |
| 13 | g.32337700T>A | CA483437749 | BRCA2 | c.3345T>A (p.Ser1115=) c.2976T>A (p.Ser992=) n.3345T>A | |
| 13 | g.32337700T>C | CA483437752 | BRCA2 | c.3345T>C (p.Ser1115=) c.2976T>C (p.Ser992=) n.3345T>C | |
| 13 | g.32337700T>G | CA483437751 | BRCA2 | c.3345T>G (p.Ser1115=) c.2976T>G (p.Ser992=) n.3345T>G | |
| 13 | g.32337700_32337701dup | CA658823662 | BRCA2 | c.3345_3346dup (p.Thr1116IlefsTer4) c.2976_2977dup (p.Thr993IlefsTer4) n.3345_3346dup | ClinVar dbSNP |
| 13 | g.32337700_32337702delinsTAC | CA2082816253 | BRCA2 | c.3345_3347delinsTAC (p.Ser1115=) c.2976_2978delinsTAC (p.Ser992=) n.3345_3347delinsTAC | |
| 13 | g.32337701A= | CA2082816267 | BRCA2 | c.3346A= (p.Thr1116=) c.2977A= (p.Thr993=) n.3346A= | |
| 13 | g.32337701A>C | CA387776324 | BRCA2 | c.3346A>C (p.Thr1116Pro) c.2977A>C (p.Thr993Pro) n.3346A>C | ClinVar dbSNP |
| 13 | g.32337701A>G | CA017810 | BRCA2 | c.3346A>G (p.Thr1116Ala) c.2977A>G (p.Thr993Ala) n.3346A>G | ClinVar dbSNP |
| 13 | g.32337701A>T | CA387776326 | BRCA2 | c.3346A>T (p.Thr1116Ser) c.2977A>T (p.Thr993Ser) n.3346A>T | dbSNP gnomAD v2 |
| 13 | g.32337701_32337702del | CA10589200 | BRCA2 | c.3346_3347del (p.Thr1116TyrfsTer10) c.2977_2978del (p.Thr993TyrfsTer10) n.3346_3347del | ClinVar dbSNP |
| 13 | g.32337701_32337702delinsT | CA2580087067 | BRCA2 | c.3346_3347delinsT (p.Thr1116LeufsTer3) c.2977_2978delinsT (p.Thr993LeufsTer3) n.3346_3347delinsT | ClinVar |
| 13 | g.32337702C>A | CA387776329 | BRCA2 | c.3347C>A (p.Thr1116Asn) c.2978C>A (p.Thr993Asn) n.3347C>A | ClinVar dbSNP |
| 13 | g.32337702C= | CA2082816280 | BRCA2 | c.3347C= (p.Thr1116=) c.2978C= (p.Thr993=) n.3347C= | |
| 13 | g.32337702C>G | CA387776331 | BRCA2 | c.3347C>G (p.Thr1116Ser) c.2978C>G (p.Thr993Ser) n.3347C>G | ClinVar dbSNP |
| 13 | g.32337702C>T | CA387776332 | BRCA2 | c.3347C>T (p.Thr1116Ile) c.2978C>T (p.Thr993Ile) n.3347C>T | ClinVar dbSNP |
| 13 | g.32337703T>A | CA483437755 | BRCA2 | c.3348T>A (p.Thr1116=) c.2979T>A (p.Thr993=) n.3348T>A | dbSNP |
| 13 | g.32337703T>C | CA483437756 | BRCA2 | c.3348T>C (p.Thr1116=) c.2979T>C (p.Thr993=) n.3348T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337703T>G | CA483437757 | BRCA2 | c.3348T>G (p.Thr1116=) c.2979T>G (p.Thr993=) n.3348T>G | |
| 13 | g.32337703T= | CA2082816295 | BRCA2 | c.3348T= (p.Thr1116=) c.2979T= (p.Thr993=) n.3348T= | |
| 13 | g.32337703_32337704delinsTA | CA2082816298 | BRCA2 | c.3348_3349delinsTA (p.Thr1116=) c.2979_2980delinsTA (p.Thr993=) n.3348_3349delinsTA | |
| 13 | g.32337706_32337707dup | CA017814 | BRCA2 | c.3351_3352dup (p.Leu1118TyrfsTer2) c.2982_2983dup (p.Leu995TyrfsTer2) n.3351_3352dup | ClinVar dbSNP |
| 13 | g.32337704del | CA10583088 | BRCA2 | c.3349del (p.Ile1117TyrfsTer2) c.2980del (p.Ile994TyrfsTer2) n.3349del | ClinVar dbSNP |
| 13 | g.32337704A= | CA2082816307 | BRCA2 | c.3349A= (p.Ile1117=) c.2980A= (p.Ile994=) n.3349A= | |
| 13 | g.32337704A>C | CA387776335 | BRCA2 | c.3349A>C (p.Ile1117Leu) c.2980A>C (p.Ile994Leu) n.3349A>C | |
| 13 | g.32337704A>G | CA017820 | BRCA2 | c.3349A>G (p.Ile1117Val) c.2980A>G (p.Ile994Val) n.3349A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337704A>T | CA387776336 | BRCA2 | c.3349A>T (p.Ile1117Leu) c.2980A>T (p.Ile994Leu) n.3349A>T | |
| 13 | g.32337705T>A | CA387776341 | BRCA2 | c.3350T>A (p.Ile1117Lys) c.2981T>A (p.Ile994Lys) n.3350T>A | dbSNP |
| 13 | g.32337705T>C | CA6940691 | BRCA2 | c.3350T>C (p.Ile1117Thr) c.2981T>C (p.Ile994Thr) n.3350T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337705T>G | CA387776339 | BRCA2 | c.3350T>G (p.Ile1117Arg) c.2981T>G (p.Ile994Arg) n.3350T>G | |
| 13 | g.32337705T= | CA2082816324 | BRCA2 | c.3350T= (p.Ile1117=) c.2981T= (p.Ile994=) n.3350T= | |
| 13 | g.32337705_32337706delinsTA | CA2082816317 | BRCA2 | c.3350_3351delinsTA (p.Ile1117=) c.2981_2982delinsTA (p.Ile994=) n.3350_3351delinsTA | |
| 13 | g.32337705_32337710delinsTATTAG | CA2082816327 | BRCA2 | c.3350_3355delinsTATTAG (p.Ile1117=) c.2981_2986delinsTATTAG (p.Ile994=) n.3350_3355delinsTATTAG | |
| 13 | g.32337706del | CA017828 | BRCA2 | c.3351del (p.Leu1118Ter) c.2982del (p.Leu995Ter) n.3351del | ClinVar dbSNP |
| 13 | g.32337706A= | CA2082816346 | BRCA2 | c.3351A= (p.Ile1117=) c.2982A= (p.Ile994=) n.3351A= | |
| 13 | g.32337706A>C | CA483437763 | BRCA2 | c.3351A>C (p.Ile1117=) c.2982A>C (p.Ile994=) n.3351A>C | |
| 13 | g.32337706A>G | CA017825 | BRCA2 | c.3351A>G (p.Ile1117Met) c.2982A>G (p.Ile994Met) n.3351A>G | ClinVar dbSNP |
| 13 | g.32337706A>T | CA10579573 | BRCA2 | c.3351A>T (p.Ile1117=) c.2982A>T (p.Ile994=) n.3351A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337707_32337711del | CA017832 | BRCA2 | c.3352_3356del (p.Leu1118ArgfsTer7) c.2983_2987del (p.Leu995ArgfsTer7) n.3352_3356del | ClinVar dbSNP |
| 13 | g.32337707T>A | CA387776346 | BRCA2 | c.3352T>A (p.Leu1118Ile) c.2983T>A (p.Leu995Ile) n.3352T>A | dbSNP COSMIC COSMIC |
| 13 | g.32337707T>C | CA483437766 | BRCA2 | c.3352T>C (p.Leu1118=) c.2983T>C (p.Leu995=) n.3352T>C | ClinVar dbSNP |
| 13 | g.32337707T>G | CA387776348 | BRCA2 | c.3352T>G (p.Leu1118Val) c.2983T>G (p.Leu995Val) n.3352T>G | ClinVar dbSNP |