| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32337658_32337691dup | CA10589197 | BRCA2 | c.3303_3336dup (p.Glu1113Ter) c.2934_2967dup (p.Glu990Ter) n.3303_3336dup | ClinVar dbSNP |
| 13 | g.32337677_32337755del | CA2739299255 | BRCA2 | c.3322_3400del (p.Lys1108AlafsTer16) c.2953_3031del (p.Lys985AlafsTer16) n.3322_3400del | |
| 13 | g.32337688T>A | CA10583087 | BRCA2 | c.3333T>A (p.Ile1111=) c.2964T>A (p.Ile988=) n.3333T>A | ClinVar dbSNP |
| 13 | g.32337688T>C | CA16614274 | BRCA2 | c.3333T>C (p.Ile1111=) c.2964T>C (p.Ile988=) n.3333T>C | ClinVar dbSNP |
| 13 | g.32337688T>G | CA387776281 | BRCA2 | c.3333T>G (p.Ile1111Met) c.2964T>G (p.Ile988Met) n.3333T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337688T= | CA2082816160 | BRCA2 | c.3333T= (p.Ile1111=) c.2964T= (p.Ile988=) n.3333T= | |
| 13 | g.32337689A>C | CA387776283 | BRCA2 | c.3334A>C (p.Thr1112Pro) c.2965A>C (p.Thr989Pro) n.3334A>C | dbSNP |
| 13 | g.32337689A>G | CA387776285 | BRCA2 | c.3334A>G (p.Thr1112Ala) c.2965A>G (p.Thr989Ala) n.3334A>G | |
| 13 | g.32337689A>T | CA387776286 | BRCA2 | c.3334A>T (p.Thr1112Ser) c.2965A>T (p.Thr989Ser) n.3334A>T | dbSNP |
| 13 | g.32337689_32337690delinsAC | CA2082816170 | BRCA2 | c.3334_3335delinsAC (p.Thr1112=) c.2965_2966delinsAC (p.Thr989=) n.3334_3335delinsAC | |
| 13 | g.32337690del | CA10589198 | BRCA2 | c.3335del (p.Thr1112LysfsTer7) c.2966del (p.Thr989LysfsTer7) n.3335del | ClinVar dbSNP |
| 13 | g.32337690C>A | CA387776288 | BRCA2 | c.3335C>A (p.Thr1112Lys) c.2966C>A (p.Thr989Lys) n.3335C>A | |
| 13 | g.32337690C>G | CA387776290 | BRCA2 | c.3335C>G (p.Thr1112Arg) c.2966C>G (p.Thr989Arg) n.3335C>G | dbSNP |
| 13 | g.32337690C>T | CA387776291 | BRCA2 | c.3335C>T (p.Thr1112Ile) c.2966C>T (p.Thr989Ile) n.3335C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337690_32337691delinsCA | CA2082816175 | BRCA2 | c.3335_3336delinsCA (p.Thr1112=) c.2966_2967delinsCA (p.Thr989=) n.3335_3336delinsCA | |
| 13 | g.32337690_32337692delinsCAG | CA2082816177 | BRCA2 | c.3335_3337delinsCAG (p.Thr1112=) c.2966_2968delinsCAG (p.Thr989=) n.3335_3337delinsCAG | |
| 13 | g.32337691del | CA017804 | BRCA2 | c.3336del (p.Glu1113AsnfsTer6) c.2967del (p.Glu990AsnfsTer6) n.3336del | ClinVar dbSNP |
| 13 | g.32337691A>C | CA483437738 | BRCA2 | c.3336A>C (p.Thr1112=) c.2967A>C (p.Thr989=) n.3336A>C | |
| 13 | g.32337691A>G | CA483437736 | BRCA2 | c.3336A>G (p.Thr1112=) c.2967A>G (p.Thr989=) n.3336A>G | gnomAD v4 |
| 13 | g.32337691A>T | CA483437735 | BRCA2 | c.3336A>T (p.Thr1112=) c.2967A>T (p.Thr989=) n.3336A>T | |
| 13 | g.32337692_32337693del | CA10589199 | BRCA2 | c.3337_3338del (p.Glu1113ThrfsTer13) c.2968_2969del (p.Glu990ThrfsTer13) n.3337_3338del | ClinVar dbSNP |
| 13 | g.32337692G>A | CA387776295 | BRCA2 | c.3337G>A (p.Glu1113Lys) c.2968G>A (p.Glu990Lys) n.3337G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337692G>C | CA387776296 | BRCA2 | c.3337G>C (p.Glu1113Gln) c.2968G>C (p.Glu990Gln) n.3337G>C | ClinVar dbSNP |
| 13 | g.32337692G= | CA2082816196 | BRCA2 | c.3337G= (p.Glu1113=) c.2968G= (p.Glu990=) n.3337G= | |
| 13 | g.32337692G>T | CA387776298 | BRCA2 | c.3337G>T (p.Glu1113Ter) c.2968G>T (p.Glu990Ter) n.3337G>T | ClinVar dbSNP |
| 13 | g.32337693A= | CA2082816200 | BRCA2 | c.3338A= (p.Glu1113=) c.2969A= (p.Glu990=) n.3338A= | |
| 13 | g.32337693A>C | CA387776300 | BRCA2 | c.3338A>C (p.Glu1113Ala) c.2969A>C (p.Glu990Ala) n.3338A>C | |
| 13 | g.32337693A>G | CA387776303 | BRCA2 | c.3338A>G (p.Glu1113Gly) c.2969A>G (p.Glu990Gly) n.3338A>G | |
| 13 | g.32337693A>T | CA387776302 | BRCA2 | c.3338A>T (p.Glu1113Val) c.2969A>T (p.Glu990Val) n.3338A>T | ClinVar dbSNP |
| 13 | g.32337694del | CA2499222127 | BRCA2 | c.3339del (p.Glu1113AspfsTer6) c.2970del (p.Glu990AspfsTer6) n.3339del | ClinVar dbSNP |
| 13 | g.32337694A>C | CA387776305 | BRCA2 | c.3339A>C (p.Glu1113Asp) c.2970A>C (p.Glu990Asp) n.3339A>C | dbSNP |
| 13 | g.32337694A>G | CA483437741 | BRCA2 | c.3339A>G (p.Glu1113=) c.2970A>G (p.Glu990=) n.3339A>G | |
| 13 | g.32337694A>T | CA387776307 | BRCA2 | c.3339A>T (p.Glu1113Asp) c.2970A>T (p.Glu990Asp) n.3339A>T | dbSNP |
| 13 | g.32337697_32337703del | CA2580087065 | BRCA2 | c.3342_3348del (p.Ser1115TyrfsTer2) c.2973_2979del (p.Ser992TyrfsTer2) n.3342_3348del | ClinVar |
| 13 | g.32337695C>A | CA387776308 | BRCA2 | c.3340C>A (p.Leu1114Ile) c.2971C>A (p.Leu991Ile) n.3340C>A | dbSNP |
| 13 | g.32337695C= | CA2082816203 | BRCA2 | c.3340C= (p.Leu1114=) c.2971C= (p.Leu991=) n.3340C= | |
| 13 | g.32337695C>G | CA387776310 | BRCA2 | c.3340C>G (p.Leu1114Val) c.2971C>G (p.Leu991Val) n.3340C>G | ClinVar dbSNP |
| 13 | g.32337695C>T | CA387776312 | BRCA2 | c.3340C>T (p.Leu1114Phe) c.2971C>T (p.Leu991Phe) n.3340C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337695_32337696delinsCT | CA2082816209 | BRCA2 | c.3340_3341delinsCT (p.Leu1114=) c.2971_2972delinsCT (p.Leu991=) n.3340_3341delinsCT | |
| 13 | g.32337696T>A | CA387776314 | BRCA2 | c.3341T>A (p.Leu1114His) c.2972T>A (p.Leu991His) n.3341T>A | |
| 13 | g.32337696T>C | CA387776316 | BRCA2 | c.3341T>C (p.Leu1114Pro) c.2972T>C (p.Leu991Pro) n.3341T>C | |
| 13 | g.32337696T>G | CA387776318 | BRCA2 | c.3341T>G (p.Leu1114Arg) c.2972T>G (p.Leu991Arg) n.3341T>G | |
| 13 | g.32337698del | CA658823661 | BRCA2 | c.3343del (p.Ser1115LeufsTer4) c.2974del (p.Ser992LeufsTer4) n.3343del | ClinVar dbSNP |
| 13 | g.32337697T>A | CA483437744 | BRCA2 | c.3342T>A (p.Leu1114=) c.2973T>A (p.Leu991=) n.3342T>A | dbSNP |
| 13 | g.32337697T>C | CA483437745 | BRCA2 | c.3342T>C (p.Leu1114=) c.2973T>C (p.Leu991=) n.3342T>C | dbSNP |
| 13 | g.32337697T>G | CA483437746 | BRCA2 | c.3342T>G (p.Leu1114=) c.2973T>G (p.Leu991=) n.3342T>G | |
| 13 | g.32337698T>A | CA387776319 | BRCA2 | c.3343T>A (p.Ser1115Thr) c.2974T>A (p.Ser992Thr) n.3343T>A | |
| 13 | g.32337698T>C | CA387776321 | BRCA2 | c.3343T>C (p.Ser1115Pro) c.2974T>C (p.Ser992Pro) n.3343T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337698T>G | CA387776322 | BRCA2 | c.3343T>G (p.Ser1115Ala) c.2974T>G (p.Ser992Ala) n.3343T>G | |
| 13 | g.32337698T= | CA2082816218 | BRCA2 | c.3343T= (p.Ser1115=) c.2974T= (p.Ser992=) n.3343T= |