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.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 |
13 | g.32337707T= | CA2082816354 | BRCA2 | c.3352T= (p.Leu1118=) c.2983T= (p.Leu995=) n.3352T= | |
13 | g.32337707_32337708del | CA2499222129 | BRCA2 | c.3352_3353del (p.Leu1118ArgfsTer8) c.2983_2984del (p.Leu995ArgfsTer8) n.3352_3353del | ClinVar dbSNP |
13 | g.32337707_32337710delinsTTAG | CA2082816353 | BRCA2 | c.3352_3355delinsTTAG (p.Leu1118=) c.2983_2986delinsTTAG (p.Leu995=) n.3352_3355delinsTTAG | |
13 | g.32337708T>A | CA387776352 | BRCA2 | c.3353T>A (p.Leu1118Ter) c.2984T>A (p.Leu995Ter) n.3353T>A | |
13 | g.32337708T>C | CA387776349 | BRCA2 | c.3353T>C (p.Leu1118Ser) c.2984T>C (p.Leu995Ser) n.3353T>C | |
13 | g.32337708T>G | CA387776350 | BRCA2 | c.3353T>G (p.Leu1118Ter) c.2984T>G (p.Leu995Ter) n.3353T>G | |
13 | g.32337708_32337709delinsTA | CA2082816364 | BRCA2 | c.3353_3354delinsTA (p.Leu1118=) c.2984_2985delinsTA (p.Leu995=) n.3353_3354delinsTA | |
13 | g.32337708_32337710del | CA017838 | BRCA2 | c.3353_3355del (p.Leu1118Ter) c.2984_2986del (p.Leu995Ter) n.3353_3355del | ClinVar dbSNP |
13 | g.32337709del | CA017848 | BRCA2 | c.3354del (p.Glu1119LysfsTer?) c.2985del (p.Glu996LysfsTer?) n.3354del | ClinVar dbSNP |
13 | g.32337709A= | CA2082816374 | BRCA2 | c.3354A= (p.Leu1118=) c.2985A= (p.Leu995=) n.3354A= | |
13 | g.32337709A>C | CA387776354 | BRCA2 | c.3354A>C (p.Leu1118Phe) c.2985A>C (p.Leu995Phe) n.3354A>C | |
13 | g.32337709A>G | CA017842 | BRCA2 | c.3354A>G (p.Leu1118=) c.2985A>G (p.Leu995=) n.3354A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337709A>T | CA387776357 | BRCA2 | c.3354A>T (p.Leu1118Phe) c.2985A>T (p.Leu995Phe) n.3354A>T | dbSNP |
13 | g.32337710_32337714del | CA2499222130 | BRCA2 | c.3355_3359del (p.Glu1119IlefsTer6) c.2986_2990del (p.Glu996IlefsTer6) n.3355_3359del | dbSNP |
13 | g.32337713_32337715del | CA2697551766 | BRCA2 | c.3358_3360del (p.Glu1120del) c.2989_2991del (p.Glu997del) n.3358_3360del | ClinVar |
13 | g.32337710G>A | CA387776362 | BRCA2 | c.3355G>A (p.Glu1119Lys) c.2986G>A (p.Glu996Lys) n.3355G>A | dbSNP |
13 | g.32337710G>C | CA387776360 | BRCA2 | c.3355G>C (p.Glu1119Gln) c.2986G>C (p.Glu996Gln) n.3355G>C | ClinVar dbSNP |
13 | g.32337710G= | CA2082816384 | BRCA2 | c.3355G= (p.Glu1119=) c.2986G= (p.Glu996=) n.3355G= | |
13 | g.32337710G>T | CA387776359 | BRCA2 | c.3355G>T (p.Glu1119Ter) c.2986G>T (p.Glu996Ter) n.3355G>T | dbSNP |
13 | g.32337711A>C | CA387776364 | BRCA2 | c.3356A>C (p.Glu1119Ala) c.2987A>C (p.Glu996Ala) n.3356A>C | |
13 | g.32337711A>G | CA387776367 | BRCA2 | c.3356A>G (p.Glu1119Gly) c.2987A>G (p.Glu996Gly) n.3356A>G | ClinVar dbSNP |
13 | g.32337711A>T | CA387776365 | BRCA2 | c.3356A>T (p.Glu1119Val) c.2987A>T (p.Glu996Val) n.3356A>T | |
13 | g.32337712A= | CA2082816391 | BRCA2 | c.3357A= (p.Glu1119=) c.2988A= (p.Glu996=) n.3357A= | |
13 | g.32337712A>C | CA387776369 | BRCA2 | c.3357A>C (p.Glu1119Asp) c.2988A>C (p.Glu996Asp) n.3357A>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337712A>G | CA483437773 | BRCA2 | c.3357A>G (p.Glu1119=) c.2988A>G (p.Glu996=) n.3357A>G | dbSNP |
13 | g.32337712A>T | CA387776371 | BRCA2 | c.3357A>T (p.Glu1119Asp) c.2988A>T (p.Glu996Asp) n.3357A>T | dbSNP |
13 | g.32337712_32337713delinsAG | CA2082816390 | BRCA2 | c.3357_3358delinsAG (p.Glu1119=) c.2988_2989delinsAG (p.Glu996=) n.3357_3358delinsAG |