| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32337804_32337806delinsCTA | CA2082817286 | BRCA2 | c.3449_3451delinsCTA (p.Thr1150=) c.3080_3082delinsCTA (p.Thr1027=) n.3449_3451delinsCTA | |
| 13 | g.32337806_32337809del | CA2499222133 | BRCA2 | c.3451_3454del (p.Ile1151Ter) c.3082_3085del (p.Ile1028Ter) n.3451_3454del | ClinVar dbSNP |
| 13 | g.32337806_32337807del | CA10589203 | BRCA2 | c.3451_3452del (p.Ile1151LeufsTer6) c.3082_3083del (p.Ile1028LeufsTer6) n.3451_3452del | ClinVar dbSNP |
| 13 | g.32337806A= | CA2082817348 | BRCA2 | c.3451A= (p.Ile1151=) c.3082A= (p.Ile1028=) n.3451A= | |
| 13 | g.32337806A>C | CA018059 | BRCA2 | c.3451A>C (p.Ile1151Leu) c.3082A>C (p.Ile1028Leu) n.3451A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337806A>G | CA018064 | BRCA2 | c.3451A>G (p.Ile1151Val) c.3082A>G (p.Ile1028Val) n.3451A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337806A>T | CA6940697 | BRCA2 | c.3451A>T (p.Ile1151Phe) c.3082A>T (p.Ile1028Phe) n.3451A>T | dbSNP ExAC gnomAD v2 |
| 13 | g.32337806_32337810delinsATCTT | CA2082817353 | BRCA2 | c.3451_3455delinsATCTT (p.Ile1151=) c.3082_3086delinsATCTT (p.Ile1028=) n.3451_3455delinsATCTT | |
| 13 | g.32337807T>A | CA387776687 | BRCA2 | c.3452T>A (p.Ile1151Asn) c.3083T>A (p.Ile1028Asn) n.3452T>A | dbSNP |
| 13 | g.32337807T>C | CA387776684 | BRCA2 | c.3452T>C (p.Ile1151Thr) c.3083T>C (p.Ile1028Thr) n.3452T>C | dbSNP |
| 13 | g.32337807T>G | CA387776688 | BRCA2 | c.3452T>G (p.Ile1151Ser) c.3083T>G (p.Ile1028Ser) n.3452T>G | dbSNP |
| 13 | g.32337807dup | CA018072 | BRCA2 | c.3452dup (p.Thr1154AspfsTer4) c.3083dup (p.Thr1031AspfsTer4) n.3452dup | ClinVar dbSNP |
| 13 | g.32337807_32337808delinsTC | CA2082817364 | BRCA2 | c.3452_3453delinsTC (p.Ile1151=) c.3083_3084delinsTC (p.Ile1028=) n.3452_3453delinsTC | |
| 13 | g.32337807_32337810del | CA658683864 | BRCA2 | c.3452_3455del (p.Ile1151LysfsTer16) c.3083_3086del (p.Ile1028LysfsTer16) n.3452_3455del | ClinVar dbSNP |
| 13 | g.32337808del | CA018090 | BRCA2 | c.3453del (p.Leu1152Ter) c.3084del (p.Leu1029Ter) n.3453del | ClinVar dbSNP |
| 13 | g.32337808C>A | CA483437487 | BRCA2 | c.3453C>A (p.Ile1151=) c.3084C>A (p.Ile1028=) n.3453C>A | |
| 13 | g.32337808C= | CA2082817374 | BRCA2 | c.3453C= (p.Ile1151=) c.3084C= (p.Ile1028=) n.3453C= | |
| 13 | g.32337808C>G | CA018084 | BRCA2 | c.3453C>G (p.Ile1151Met) c.3084C>G (p.Ile1028Met) n.3453C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337808C>T | CA483437490 | BRCA2 | c.3453C>T (p.Ile1151=) c.3084C>T (p.Ile1028=) n.3453C>T | |
| 13 | g.32337808_32337810delinsCTT | CA2082817381 | BRCA2 | c.3453_3455delinsCTT (p.Ile1151=) c.3084_3086delinsCTT (p.Ile1028=) n.3453_3455delinsCTT | |
| 13 | g.32337809T>A | CA387776692 | BRCA2 | c.3454T>A (p.Leu1152Ile) c.3085T>A (p.Leu1029Ile) n.3454T>A | dbSNP |
| 13 | g.32337809T>C | CA483437491 | BRCA2 | c.3454T>C (p.Leu1152=) c.3085T>C (p.Leu1029=) n.3454T>C | |
| 13 | g.32337809T>G | CA387776697 | BRCA2 | c.3454T>G (p.Leu1152Val) c.3085T>G (p.Leu1029Val) n.3454T>G | |
| 13 | g.32337809_32337810del | CA645372956 | BRCA2 | c.3454_3455del (p.Leu1152LysfsTer5) c.3085_3086del (p.Leu1029LysfsTer5) n.3454_3455del | ClinVar dbSNP |
| 13 | g.32337810dup | CA018080 | BRCA2 | c.3455dup (p.Leu1152PhefsTer6) c.3086dup (p.Leu1029PhefsTer6) n.3455dup | ClinVar dbSNP |
| 13 | g.32337809_32337810dup | CA658656410 | BRCA2 | c.3454_3455dup (p.Leu1152PhefsTer2) c.3085_3086dup (p.Leu1029PhefsTer2) n.3454_3455dup | ClinVar dbSNP |
| 13 | g.32337810T>A | CA10579579 | BRCA2 | c.3455T>A (p.Leu1152Ter) c.3086T>A (p.Leu1029Ter) n.3455T>A | ClinVar dbSNP |
| 13 | g.32337810T>C | CA387776701 | BRCA2 | c.3455T>C (p.Leu1152Ser) c.3086T>C (p.Leu1029Ser) n.3455T>C | ClinVar dbSNP |
| 13 | g.32337810T>G | CA018097 | BRCA2 | c.3455T>G (p.Leu1152Ter) c.3086T>G (p.Leu1029Ter) n.3455T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337810T= | CA2082817412 | BRCA2 | c.3455T= (p.Leu1152=) c.3086T= (p.Leu1029=) n.3455T= | |
| 13 | g.32337810_32337811delinsTA | CA2082817408 | BRCA2 | c.3455_3456delinsTA (p.Leu1152=) c.3086_3087delinsTA (p.Leu1029=) n.3455_3456delinsTA | |
| 13 | g.32337811A= | CA2082817429 | BRCA2 | c.3456A= (p.Leu1152=) c.3087A= (p.Leu1029=) n.3456A= | |
| 13 | g.32337811A>C | CA387776702 | BRCA2 | c.3456A>C (p.Leu1152Phe) c.3087A>C (p.Leu1029Phe) n.3456A>C | |
| 13 | g.32337811A>G | CA483437496 | BRCA2 | c.3456A>G (p.Leu1152=) c.3087A>G (p.Leu1029=) n.3456A>G | ClinVar dbSNP |
| 13 | g.32337811A>T | CA387776703 | BRCA2 | c.3456A>T (p.Leu1152Phe) c.3087A>T (p.Leu1029Phe) n.3456A>T | dbSNP |
| 13 | g.32337813dup | CA916080526 | BRCA2 | c.3458dup (p.Thr1154AspfsTer4) c.3089dup (p.Thr1031AspfsTer4) n.3458dup | ClinVar dbSNP |
| 13 | g.32337813del | CA018110 | BRCA2 | c.3458del (p.Lys1153ArgfsTer15) c.3089del (p.Lys1030ArgfsTer15) n.3458del | ClinVar dbSNP |
| 13 | g.32337812A= | CA2082817441 | BRCA2 | c.3457A= (p.Lys1153=) c.3088A= (p.Lys1030=) n.3457A= | |
| 13 | g.32337812A>C | CA387776704 | BRCA2 | c.3457A>C (p.Lys1153Gln) c.3088A>C (p.Lys1030Gln) n.3457A>C | |
| 13 | g.32337812A>G | CA387776707 | BRCA2 | c.3457A>G (p.Lys1153Glu) c.3088A>G (p.Lys1030Glu) n.3457A>G | |
| 13 | g.32337812A>T | CA387776723 | BRCA2 | c.3457A>T (p.Lys1153Ter) c.3088A>T (p.Lys1030Ter) n.3457A>T | dbSNP |
| 13 | g.32337812_32337813insG | CA919242453 | BRCA2 | c.3457_3458insG (p.Lys1153ArgfsTer5) c.3088_3089insG (p.Lys1030ArgfsTer5) n.3457_3458insG | dbSNP |
| 13 | g.32337813A= | CA2082817452 | BRCA2 | c.3458A= (p.Lys1153=) c.3089A= (p.Lys1030=) n.3458A= | |
| 13 | g.32337813A>C | CA387776726 | BRCA2 | c.3458A>C (p.Lys1153Thr) c.3089A>C (p.Lys1030Thr) n.3458A>C | |
| 13 | g.32337813A>G | CA018105 | BRCA2 | c.3458A>G (p.Lys1153Arg) c.3089A>G (p.Lys1030Arg) n.3458A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337813A>T | CA387776731 | BRCA2 | c.3458A>T (p.Lys1153Met) c.3089A>T (p.Lys1030Met) n.3458A>T | dbSNP |
| 13 | g.32337814G>A | CA483437498 | BRCA2 | c.3459G>A (p.Lys1153=) c.3090G>A (p.Lys1030=) n.3459G>A | ClinVar dbSNP |
| 13 | g.32337814G>C | CA387776734 | BRCA2 | c.3459G>C (p.Lys1153Asn) c.3090G>C (p.Lys1030Asn) n.3459G>C | dbSNP |
| 13 | g.32337814G>T | CA387776737 | BRCA2 | c.3459G>T (p.Lys1153Asn) c.3090G>T (p.Lys1030Asn) n.3459G>T | dbSNP gnomAD v4 |
| 13 | g.32337815del | CA2580614698 | BRCA2 | c.3460del (p.Thr1154ProfsTer14) c.3091del (p.Thr1031ProfsTer14) n.3460del | ClinVar |