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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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 | |
| 13 | g.32337713del | CA017851 | BRCA2 | c.3358del (p.Glu1120AsnfsTer30) c.2989del (p.Glu997AsnfsTer30) n.3358del | ClinVar dbSNP |
| 13 | g.32337713G>A | CA387776372 | BRCA2 | c.3358G>A (p.Glu1120Lys) c.2989G>A (p.Glu997Lys) n.3358G>A | dbSNP |
| 13 | g.32337713G>C | CA017857 | BRCA2 | c.3358G>C (p.Glu1120Gln) c.2989G>C (p.Glu997Gln) n.3358G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337713G= | CA2082816400 | BRCA2 | c.3358G= (p.Glu1120=) c.2989G= (p.Glu997=) n.3358G= | |
| 13 | g.32337713G>T | CA387776374 | BRCA2 | c.3358G>T (p.Glu1120Ter) c.2989G>T (p.Glu997Ter) n.3358G>T | ClinVar dbSNP |
| 13 | g.32337714A>C | CA387776377 | BRCA2 | c.3359A>C (p.Glu1120Ala) c.2990A>C (p.Glu997Ala) n.3359A>C | |
| 13 | g.32337714A>G | CA387776378 | BRCA2 | c.3359A>G (p.Glu1120Gly) c.2990A>G (p.Glu997Gly) n.3359A>G | gnomAD v4 |
| 13 | g.32337714A>T | CA387776379 | BRCA2 | c.3359A>T (p.Glu1120Val) c.2990A>T (p.Glu997Val) n.3359A>T | dbSNP |
| 13 | g.32337715A>C | CA387776380 | BRCA2 | c.3360A>C (p.Glu1120Asp) c.2991A>C (p.Glu997Asp) n.3360A>C | ClinVar dbSNP |
| 13 | g.32337715A>G | CA483437776 | BRCA2 | c.3360A>G (p.Glu1120=) c.2991A>G (p.Glu997=) n.3360A>G | ClinVar dbSNP |
| 13 | g.32337715A>T | CA387776381 | BRCA2 | c.3360A>T (p.Glu1120Asp) c.2991A>T (p.Glu997Asp) n.3360A>T | ClinVar dbSNP |
| 13 | g.32337716T>A | CA387776382 | BRCA2 | c.3361T>A (p.Ser1121Thr) c.2992T>A (p.Ser998Thr) n.3361T>A | dbSNP COSMIC COSMIC |
| 13 | g.32337716T>C | CA387776383 | BRCA2 | c.3361T>C (p.Ser1121Pro) c.2992T>C (p.Ser998Pro) n.3361T>C | ClinVar dbSNP |
| 13 | g.32337716T>G | CA387776384 | BRCA2 | c.3361T>G (p.Ser1121Ala) c.2992T>G (p.Ser998Ala) n.3361T>G | |
| 13 | g.32337716T= | CA2082816408 | BRCA2 | c.3361T= (p.Ser1121=) c.2992T= (p.Ser998=) n.3361T= | |
| 13 | g.32337717C>A | CA017863 | BRCA2 | c.3362C>A (p.Ser1121Ter) c.2993C>A (p.Ser998Ter) n.3362C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337717C= | CA2082816416 | BRCA2 | c.3362C= (p.Ser1121=) c.2993C= (p.Ser998=) n.3362C= | |
| 13 | g.32337717C>G | CA017866 | BRCA2 | c.3362C>G (p.Ser1121Ter) c.2993C>G (p.Ser998Ter) n.3362C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337717C>T | CA387776385 | BRCA2 | c.3362C>T (p.Ser1121Leu) c.2993C>T (p.Ser998Leu) n.3362C>T | ClinVar dbSNP |
| 13 | g.32337718A>C | CA483437782 | BRCA2 | c.3363A>C (p.Ser1121=) c.2994A>C (p.Ser998=) n.3363A>C | |
| 13 | g.32337718A>G | CA483437780 | BRCA2 | c.3363A>G (p.Ser1121=) c.2994A>G (p.Ser998=) n.3363A>G | ClinVar dbSNP |
| 13 | g.32337718A>T | CA483437781 | BRCA2 | c.3363A>T (p.Ser1121=) c.2994A>T (p.Ser998=) n.3363A>T | dbSNP |
| 13 | g.32337718_32337719delinsAG | CA2082816430 | BRCA2 | c.3363_3364delinsAG (p.Ser1121=) c.2994_2995delinsAG (p.Ser998=) n.3363_3364delinsAG | |
| 13 | g.32337718_32337725delinsAGGAAGTC | CA2082816441 | BRCA2 | c.3363_3370delinsAGGAAGTC (p.Ser1121=) c.2994_3001delinsAGGAAGTC (p.Ser998=) n.3363_3370delinsAGGAAGTC | |
| 13 | g.32337719G>A | CA387776388 | BRCA2 | c.3364G>A (p.Gly1122Arg) c.2995G>A (p.Gly999Arg) n.3364G>A | ClinVar dbSNP |
| 13 | g.32337719G>C | CA387776387 | BRCA2 | c.3364G>C (p.Gly1122Arg) c.2995G>C (p.Gly999Arg) n.3364G>C | |
| 13 | g.32337719G= | CA2082816461 | BRCA2 | c.3364G= (p.Gly1122=) c.2995G= (p.Gly999=) n.3364G= | |
| 13 | g.32337719G>T | CA387776386 | BRCA2 | c.3364G>T (p.Gly1122Ter) c.2995G>T (p.Gly999Ter) n.3364G>T | |
| 13 | g.32337720del | CA017872 | BRCA2 | c.3365del (p.Gly1122GlufsTer28) c.2996del (p.Gly999GlufsTer28) n.3365del | ClinVar dbSNP |
| 13 | g.32337719_32337725delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG | CA658823665 | BRCA2 | c.3364_3370delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG (p.Gly1122IlefsTer6) c.2995_3001delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG (p.Gly999IlefsTer6) n.3364_3370delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG | ClinVar dbSNP |
| 13 | g.32337720G>A | CA6940692 | BRCA2 | c.3365G>A (p.Gly1122Glu) c.2996G>A (p.Gly999Glu) n.3365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337720G>C | CA387776389 | BRCA2 | c.3365G>C (p.Gly1122Ala) c.2996G>C (p.Gly999Ala) n.3365G>C | dbSNP |
| 13 | g.32337720G= | CA2082816473 | BRCA2 | c.3365G= (p.Gly1122=) c.2996G= (p.Gly999=) n.3365G= | |
| 13 | g.32337720G>T | CA387776390 | BRCA2 | c.3365G>T (p.Gly1122Val) c.2996G>T (p.Gly999Val) n.3365G>T | ClinVar dbSNP |
| 13 | g.32337720_32337722delinsGAA | CA2082816471 | BRCA2 | c.3365_3367delinsGAA (p.Gly1122=) c.2996_2998delinsGAA (p.Gly999=) n.3365_3367delinsGAA | |
| 13 | g.32337721A>C | CA483437786 | BRCA2 | c.3366A>C (p.Gly1122=) c.2997A>C (p.Gly999=) n.3366A>C | |
| 13 | g.32337721A>G | CA483437792 | BRCA2 | c.3366A>G (p.Gly1122=) c.2997A>G (p.Gly999=) n.3366A>G | |
| 13 | g.32337721A>T | CA483437791 | BRCA2 | c.3366A>T (p.Gly1122=) c.2997A>T (p.Gly999=) n.3366A>T | dbSNP |
| 13 | g.32337721_32337722del | CA017878 | BRCA2 | c.3366_3367del (p.Gln1124ValfsTer2) c.2997_2998del (p.Gln1001ValfsTer2) n.3366_3367del | ClinVar dbSNP |
| 13 | g.32337722A= | CA2082816486 | BRCA2 | c.3367A= (p.Ser1123=) c.2998A= (p.Ser1000=) n.3367A= | |
| 13 | g.32337722A>C | CA387776391 | BRCA2 | c.3367A>C (p.Ser1123Arg) c.2998A>C (p.Ser1000Arg) n.3367A>C | |
| 13 | g.32337722A>G | CA017884 | BRCA2 | c.3367A>G (p.Ser1123Gly) c.2998A>G (p.Ser1000Gly) n.3367A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337722A>T | CA387776392 | BRCA2 | c.3367A>T (p.Ser1123Cys) c.2998A>T (p.Ser1000Cys) n.3367A>T | dbSNP |
| 13 | g.32337723G>A | CA387776393 | BRCA2 | c.3368G>A (p.Ser1123Asn) c.2999G>A (p.Ser1000Asn) n.3368G>A | ClinVar dbSNP |
| 13 | g.32337723G>C | CA387776394 | BRCA2 | c.3368G>C (p.Ser1123Thr) c.2999G>C (p.Ser1000Thr) n.3368G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337723G= | CA2082816495 | BRCA2 | c.3368G= (p.Ser1123=) c.2999G= (p.Ser1000=) n.3368G= | |
| 13 | g.32337723G>T | CA387776395 | BRCA2 | c.3368G>T (p.Ser1123Ile) c.2999G>T (p.Ser1000Ile) n.3368G>T | |
| 13 | g.32337724T>A | CA387776396 | BRCA2 | c.3369T>A (p.Ser1123Arg) c.3000T>A (p.Ser1000Arg) n.3369T>A | dbSNP |
| 13 | g.32337724T>C | CA483437799 | BRCA2 | c.3369T>C (p.Ser1123=) c.3000T>C (p.Ser1000=) n.3369T>C | dbSNP |
| 13 | g.32337724T>G | CA387776397 | BRCA2 | c.3369T>G (p.Ser1123Arg) c.3000T>G (p.Ser1000Arg) n.3369T>G | dbSNP |
| 13 | g.32337725C>A | CA387776398 | BRCA2 | c.3370C>A (p.Gln1124Lys) c.3001C>A (p.Gln1001Lys) n.3370C>A | dbSNP COSMIC COSMIC |
| 13 | g.32337725C>G | CA387776399 | BRCA2 | c.3370C>G (p.Gln1124Glu) c.3001C>G (p.Gln1001Glu) n.3370C>G | dbSNP |
| 13 | g.32337725C>T | CA387776400 | BRCA2 | c.3370C>T (p.Gln1124Ter) c.3001C>T (p.Gln1001Ter) n.3370C>T | dbSNP COSMIC COSMIC |
| 13 | g.32337726A= | CA2082816505 | BRCA2 | c.3371A= (p.Gln1124=) c.3002A= (p.Gln1001=) n.3371A= | |
| 13 | g.32337726A>C | CA387776401 | BRCA2 | c.3371A>C (p.Gln1124Pro) c.3002A>C (p.Gln1001Pro) n.3371A>C | ClinVar gnomAD v4 |
| 13 | g.32337726A>G | CA387776402 | BRCA2 | c.3371A>G (p.Gln1124Arg) c.3002A>G (p.Gln1001Arg) n.3371A>G | ClinVar dbSNP |
| 13 | g.32337726A>T | CA387776403 | BRCA2 | c.3371A>T (p.Gln1124Leu) c.3002A>T (p.Gln1001Leu) n.3371A>T | dbSNP |
| 13 | g.32337727G>A | CA6940693 | BRCA2 | c.3372G>A (p.Gln1124=) c.3003G>A (p.Gln1001=) n.3372G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32337727G>C | CA387776404 | BRCA2 | c.3372G>C (p.Gln1124His) c.3003G>C (p.Gln1001His) n.3372G>C | |
| 13 | g.32337727G= | CA2082816512 | BRCA2 | c.3372G= (p.Gln1124=) c.3003G= (p.Gln1001=) n.3372G= | |
| 13 | g.32337727G>T | CA387776405 | BRCA2 | c.3372G>T (p.Gln1124His) c.3003G>T (p.Gln1001His) n.3372G>T | |
| 13 | g.32337728T>A | CA387776406 | BRCA2 | c.3373T>A (p.Phe1125Ile) c.3004T>A (p.Phe1002Ile) n.3373T>A | dbSNP |
| 13 | g.32337728T>C | CA387776407 | BRCA2 | c.3373T>C (p.Phe1125Leu) c.3004T>C (p.Phe1002Leu) n.3373T>C | |
| 13 | g.32337728T>G | CA387776408 | BRCA2 | c.3373T>G (p.Phe1125Val) c.3004T>G (p.Phe1002Val) n.3373T>G | |
| 13 | g.32337730del | CA2580087068 | BRCA2 | c.3375del (p.Phe1125LeufsTer25) c.3006del (p.Phe1002LeufsTer25) n.3375del | ClinVar |
| 13 | g.32337729T>A | CA387776410 | BRCA2 | c.3374T>A (p.Phe1125Tyr) c.3005T>A (p.Phe1002Tyr) n.3374T>A | dbSNP |
| 13 | g.32337729T>C | CA387776411 | BRCA2 | c.3374T>C (p.Phe1125Ser) c.3005T>C (p.Phe1002Ser) n.3374T>C | ClinVar |
| 13 | g.32337729T>G | CA387776409 | BRCA2 | c.3374T>G (p.Phe1125Cys) c.3005T>G (p.Phe1002Cys) n.3374T>G | |
| 13 | g.32337730T>A | CA387776412 | BRCA2 | c.3375T>A (p.Phe1125Leu) c.3006T>A (p.Phe1002Leu) n.3375T>A | ClinVar dbSNP |
| 13 | g.32337730T>C | CA483437803 | BRCA2 | c.3375T>C (p.Phe1125=) c.3006T>C (p.Phe1002=) n.3375T>C | |
| 13 | g.32337730T>G | CA387776413 | BRCA2 | c.3375T>G (p.Phe1125Leu) c.3006T>G (p.Phe1002Leu) n.3375T>G | |
| 13 | g.32337730T= | CA2082816520 | BRCA2 | c.3375T= (p.Phe1125=) c.3006T= (p.Phe1002=) n.3375T= | |
| 13 | g.32337731G>A | CA387776414 | BRCA2 | c.3376G>A (p.Glu1126Lys) c.3007G>A (p.Glu1003Lys) n.3376G>A | ClinVar dbSNP |
| 13 | g.32337731G>C | CA387776415 | BRCA2 | c.3376G>C (p.Glu1126Gln) c.3007G>C (p.Glu1003Gln) n.3376G>C | dbSNP COSMIC COSMIC |
| 13 | g.32337731G= | CA2082816528 | BRCA2 | c.3376G= (p.Glu1126=) c.3007G= (p.Glu1003=) n.3376G= | |
| 13 | g.32337731G>T | CA387776416 | BRCA2 | c.3376G>T (p.Glu1126Ter) c.3007G>T (p.Glu1003Ter) n.3376G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337732A= | CA2082816538 | BRCA2 | c.3377A= (p.Glu1126=) c.3008A= (p.Glu1003=) n.3377A= | |
| 13 | g.32337732A>C | CA387776419 | BRCA2 | c.3377A>C (p.Glu1126Ala) c.3008A>C (p.Glu1003Ala) n.3377A>C | ClinVar dbSNP |
| 13 | g.32337732A>G | CA387776417 | BRCA2 | c.3377A>G (p.Glu1126Gly) c.3008A>G (p.Glu1003Gly) n.3377A>G | dbSNP |
| 13 | g.32337732A>T | CA387776418 | BRCA2 | c.3377A>T (p.Glu1126Val) c.3008A>T (p.Glu1003Val) n.3377A>T | dbSNP |
| 13 | g.32337733del | CA2573149305 | BRCA2 | c.3378del (p.Glu1126AspfsTer24) c.3009del (p.Glu1003AspfsTer24) n.3378del | ClinVar dbSNP |
| 13 | g.32337733A= | CA2082816545 | BRCA2 | c.3378A= (p.Glu1126=) c.3009A= (p.Glu1003=) n.3378A= | |
| 13 | g.32337733A>C | CA387776420 | BRCA2 | c.3378A>C (p.Glu1126Asp) c.3009A>C (p.Glu1003Asp) n.3378A>C | |
| 13 | g.32337733A>G | CA483437339 | BRCA2 | c.3378A>G (p.Glu1126=) c.3009A>G (p.Glu1003=) n.3378A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337733A>T | CA387776421 | BRCA2 | c.3378A>T (p.Glu1126Asp) c.3009A>T (p.Glu1003Asp) n.3378A>T | |
| 13 | g.32337733_32337734delinsAT | CA2082816542 | BRCA2 | c.3378_3379delinsAT (p.Glu1126=) c.3009_3010delinsAT (p.Glu1003=) n.3378_3379delinsAT | |
| 13 | g.32337734T>A | CA387776422 | BRCA2 | c.3379T>A (p.Phe1127Ile) c.3010T>A (p.Phe1004Ile) n.3379T>A | dbSNP |
| 13 | g.32337734T>C | CA387776423 | BRCA2 | c.3379T>C (p.Phe1127Leu) c.3010T>C (p.Phe1004Leu) n.3379T>C | ClinVar dbSNP |
| 13 | g.32337734T>G | CA387776424 | BRCA2 | c.3379T>G (p.Phe1127Val) c.3010T>G (p.Phe1004Val) n.3379T>G | |
| 13 | g.32337734T= | CA2082816556 | BRCA2 | c.3379T= (p.Phe1127=) c.3010T= (p.Phe1004=) n.3379T= | |
| 13 | g.32337736del | CA017889 | BRCA2 | c.3381del (p.Phe1127LeufsTer23) c.3012del (p.Phe1004LeufsTer23) n.3381del | ClinVar dbSNP |
| 13 | g.32337735T>A | CA387776425 | BRCA2 | c.3380T>A (p.Phe1127Tyr) c.3011T>A (p.Phe1004Tyr) n.3380T>A | |
| 13 | g.32337735T>C | CA387776426 | BRCA2 | c.3380T>C (p.Phe1127Ser) c.3011T>C (p.Phe1004Ser) n.3380T>C | dbSNP |
| 13 | g.32337735T>G | CA387776427 | BRCA2 | c.3380T>G (p.Phe1127Cys) c.3011T>G (p.Phe1004Cys) n.3380T>G | ClinVar dbSNP |
| 13 | g.32337736T>A | CA387776428 | BRCA2 | c.3381T>A (p.Phe1127Leu) c.3012T>A (p.Phe1004Leu) n.3381T>A | dbSNP |
| 13 | g.32337736T>C | CA16606781 | BRCA2 | c.3381T>C (p.Phe1127=) c.3012T>C (p.Phe1004=) n.3381T>C | ClinVar dbSNP |
| 13 | g.32337736T>G | CA387776429 | BRCA2 | c.3381T>G (p.Phe1127Leu) c.3012T>G (p.Phe1004Leu) n.3381T>G | ClinVar dbSNP |
| 13 | g.32337736T= | CA2082816565 | BRCA2 | c.3381T= (p.Phe1127=) c.3012T= (p.Phe1004=) n.3381T= | |
| 13 | g.32337737A= | CA2082816574 | BRCA2 | c.3382A= (p.Thr1128=) c.3013A= (p.Thr1005=) n.3382A= | |
| 13 | g.32337737A>C | CA387776430 | BRCA2 | c.3382A>C (p.Thr1128Pro) c.3013A>C (p.Thr1005Pro) n.3382A>C | dbSNP |
| 13 | g.32337737A>G | CA017896 | BRCA2 | c.3382A>G (p.Thr1128Ala) c.3013A>G (p.Thr1005Ala) n.3382A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337737A>T | CA387776431 | BRCA2 | c.3382A>T (p.Thr1128Ser) c.3013A>T (p.Thr1005Ser) n.3382A>T | ClinVar dbSNP |
| 13 | g.32337738C>A | CA387776432 | BRCA2 | c.3383C>A (p.Thr1128Asn) c.3014C>A (p.Thr1005Asn) n.3383C>A | dbSNP |
| 13 | g.32337738C= | CA2082816591 | BRCA2 | c.3383C= (p.Thr1128=) c.3014C= (p.Thr1005=) n.3383C= | |
| 13 | g.32337738C>G | CA387776433 | BRCA2 | c.3383C>G (p.Thr1128Ser) c.3014C>G (p.Thr1005Ser) n.3383C>G | dbSNP gnomAD v4 |
| 13 | g.32337738C>T | CA017902 | BRCA2 | c.3383C>T (p.Thr1128Ile) c.3014C>T (p.Thr1005Ile) n.3383C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337739T>A | CA483437352 | BRCA2 | c.3384T>A (p.Thr1128=) c.3015T>A (p.Thr1005=) n.3384T>A | dbSNP |
| 13 | g.32337739T>C | CA10579574 | BRCA2 | c.3384T>C (p.Thr1128=) c.3015T>C (p.Thr1005=) n.3384T>C | ClinVar dbSNP |
| 13 | g.32337739T>G | CA483437355 | BRCA2 | c.3384T>G (p.Thr1128=) c.3015T>G (p.Thr1005=) n.3384T>G | |
| 13 | g.32337739T= | CA2082816599 | BRCA2 | c.3384T= (p.Thr1128=) c.3015T= (p.Thr1005=) n.3384T= | |
| 13 | g.32337740C>A | CA387776434 | BRCA2 | c.3385C>A (p.Gln1129Lys) c.3016C>A (p.Gln1006Lys) n.3385C>A | dbSNP |
| 13 | g.32337740C= | CA2082816647 | BRCA2 | c.3385C= (p.Gln1129=) c.3016C= (p.Gln1006=) n.3385C= | |
| 13 | g.32337740C>G | CA387776435 | BRCA2 | c.3385C>G (p.Gln1129Glu) c.3016C>G (p.Gln1006Glu) n.3385C>G | dbSNP |
| 13 | g.32337740C>T | CA387776436 | BRCA2 | c.3385C>T (p.Gln1129Ter) c.3016C>T (p.Gln1006Ter) n.3385C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337740_32337741del | CA2580087069 | BRCA2 | c.3385_3386del (p.Gln1129ValfsTer2) c.3016_3017del (p.Gln1006ValfsTer2) n.3385_3386del | ClinVar |
| 13 | g.32337741A>C | CA387776439 | BRCA2 | c.3386A>C (p.Gln1129Pro) c.3017A>C (p.Gln1006Pro) n.3386A>C | |
| 13 | g.32337741A>G | CA387776438 | BRCA2 | c.3386A>G (p.Gln1129Arg) c.3017A>G (p.Gln1006Arg) n.3386A>G | dbSNP |
| 13 | g.32337741A>T | CA387776437 | BRCA2 | c.3386A>T (p.Gln1129Leu) c.3017A>T (p.Gln1006Leu) n.3386A>T | dbSNP |
| 13 | g.32337741dup | CA017908 | BRCA2 | c.3386dup (p.Phe1130ValfsTer2) c.3017dup (p.Phe1007ValfsTer2) n.3386dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337742G>A | CA483437360 | BRCA2 | c.3387G>A (p.Gln1129=) c.3018G>A (p.Gln1006=) n.3387G>A | gnomAD v4 COSMIC COSMIC |
| 13 | g.32337742G>C | CA387776440 | BRCA2 | c.3387G>C (p.Gln1129His) c.3018G>C (p.Gln1006His) n.3387G>C | |
| 13 | g.32337742G= | CA2082816664 | BRCA2 | c.3387G= (p.Gln1129=) c.3018G= (p.Gln1006=) n.3387G= | |
| 13 | g.32337742G>T | CA387776441 | BRCA2 | c.3387G>T (p.Gln1129His) c.3018G>T (p.Gln1006His) n.3387G>T | ClinVar dbSNP |
| 13 | g.32337742_32337743delinsGT | CA2082816663 | BRCA2 | c.3387_3388delinsGT (p.Gln1129=) c.3018_3019delinsGT (p.Gln1006=) n.3387_3388delinsGT | |
| 13 | g.32337743T>A | CA387776442 | BRCA2 | c.3388T>A (p.Phe1130Ile) c.3019T>A (p.Phe1007Ile) n.3388T>A | dbSNP |
| 13 | g.32337743T>C | CA387776443 | BRCA2 | c.3388T>C (p.Phe1130Leu) c.3019T>C (p.Phe1007Leu) n.3388T>C | dbSNP |
| 13 | g.32337743T>G | CA387776444 | BRCA2 | c.3388T>G (p.Phe1130Val) c.3019T>G (p.Phe1007Val) n.3388T>G | |
| 13 | g.32337745del | CA10589201 | BRCA2 | c.3390del (p.Phe1130LeufsTer20) c.3021del (p.Phe1007LeufsTer20) n.3390del | ClinVar dbSNP |
| 13 | g.32337744T>A | CA387776445 | BRCA2 | c.3389T>A (p.Phe1130Tyr) c.3020T>A (p.Phe1007Tyr) n.3389T>A | dbSNP |
| 13 | g.32337744T>C | CA387776446 | BRCA2 | c.3389T>C (p.Phe1130Ser) c.3020T>C (p.Phe1007Ser) n.3389T>C | |
| 13 | g.32337744T>G | CA387776447 | BRCA2 | c.3389T>G (p.Phe1130Cys) c.3020T>G (p.Phe1007Cys) n.3389T>G | |
| 13 | g.32337744_32337745insG | CA2499222131 | BRCA2 | c.3389_3390insG (p.Phe1130LeufsTer2) c.3020_3021insG (p.Phe1007LeufsTer2) n.3389_3390insG | ClinVar dbSNP |
| 13 | g.32337745T>A | CA387776448 | BRCA2 | c.3390T>A (p.Phe1130Leu) c.3021T>A (p.Phe1007Leu) n.3390T>A | dbSNP |
| 13 | g.32337745T>C | CA483437364 | BRCA2 | c.3390T>C (p.Phe1130=) c.3021T>C (p.Phe1007=) n.3390T>C | ClinVar dbSNP |
| 13 | g.32337745T>G | CA387776449 | BRCA2 | c.3390T>G (p.Phe1130Leu) c.3021T>G (p.Phe1007Leu) n.3390T>G | ClinVar gnomAD v4 |
| 13 | g.32337745T= | CA2082816687 | BRCA2 | c.3390T= (p.Phe1130=) c.3021T= (p.Phe1007=) n.3390T= | |
| 13 | g.32337746A= | CA2082816694 | BRCA2 | c.3391A= (p.Arg1131=) c.3022A= (p.Arg1008=) n.3391A= | |
| 13 | g.32337746A>C | CA483437365 | BRCA2 | c.3391A>C (p.Arg1131=) c.3022A>C (p.Arg1008=) n.3391A>C | |
| 13 | g.32337746A>G | CA387776450 | BRCA2 | c.3391A>G (p.Arg1131Gly) c.3022A>G (p.Arg1008Gly) n.3391A>G | ClinVar dbSNP |
| 13 | g.32337746A>T | CA387776451 | BRCA2 | c.3391A>T (p.Arg1131Ter) c.3022A>T (p.Arg1008Ter) n.3391A>T | dbSNP |
| 13 | g.32337747G>A | CA387776453 | BRCA2 | c.3392G>A (p.Arg1131Lys) c.3023G>A (p.Arg1008Lys) n.3392G>A | ClinVar dbSNP |
| 13 | g.32337747G>C | CA387776454 | BRCA2 | c.3392G>C (p.Arg1131Thr) c.3023G>C (p.Arg1008Thr) n.3392G>C | gnomAD v4 |
| 13 | g.32337747G= | CA2082816704 | BRCA2 | c.3392G= (p.Arg1131=) c.3023G= (p.Arg1008=) n.3392G= | |
| 13 | g.32337747G>T | CA387776452 | BRCA2 | c.3392G>T (p.Arg1131Ile) c.3023G>T (p.Arg1008Ile) n.3392G>T | |
| 13 | g.32337747_32337748delinsGA | CA2082816701 | BRCA2 | c.3392_3393delinsGA (p.Arg1131=) c.3023_3024delinsGA (p.Arg1008=) n.3392_3393delinsGA | |
| 13 | g.32337748A= | CA2082816728 | BRCA2 | c.3393A= (p.Arg1131=) c.3024A= (p.Arg1008=) n.3393A= | |
| 13 | g.32337748A>C | CA387776455 | BRCA2 | c.3393A>C (p.Arg1131Ser) c.3024A>C (p.Arg1008Ser) n.3393A>C | |
| 13 | g.32337748A>G | CA483437369 | BRCA2 | c.3393A>G (p.Arg1131=) c.3024A>G (p.Arg1008=) n.3393A>G | ClinVar dbSNP |
| 13 | g.32337748A>T | CA387776456 | BRCA2 | c.3393A>T (p.Arg1131Ser) c.3024A>T (p.Arg1008Ser) n.3393A>T | dbSNP |
| 13 | g.32337751dup | CA916080518 | BRCA2 | c.3396dup (p.Pro1133ThrfsTer11) c.3027dup (p.Pro1010ThrfsTer11) n.3396dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337751del | CA10579575 | BRCA2 | c.3396del (p.Lys1132AsnfsTer18) c.3027del (p.Lys1009AsnfsTer18) n.3396del | ClinVar dbSNP |
| 13 | g.32337749A>C | CA387776457 | BRCA2 | c.3394A>C (p.Lys1132Gln) c.3025A>C (p.Lys1009Gln) n.3394A>C | |
| 13 | g.32337749A>G | CA387776458 | BRCA2 | c.3394A>G (p.Lys1132Glu) c.3025A>G (p.Lys1009Glu) n.3394A>G | |
| 13 | g.32337749A>T | CA387776459 | BRCA2 | c.3394A>T (p.Lys1132Ter) c.3025A>T (p.Lys1009Ter) n.3394A>T | ClinVar dbSNP |
| 13 | g.32337750A= | CA2082816747 | BRCA2 | c.3395A= (p.Lys1132=) c.3026A= (p.Lys1009=) n.3395A= | |
| 13 | g.32337750A>C | CA387776460 | BRCA2 | c.3395A>C (p.Lys1132Thr) c.3026A>C (p.Lys1009Thr) n.3395A>C | |
| 13 | g.32337750A>G | CA017914 | BRCA2 | c.3395A>G (p.Lys1132Arg) c.3026A>G (p.Lys1009Arg) n.3395A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337750A>T | CA387776461 | BRCA2 | c.3395A>T (p.Lys1132Ile) c.3026A>T (p.Lys1009Ile) n.3395A>T | dbSNP |
| 13 | g.32337750_32337751delinsG | CA2580087070 | BRCA2 | c.3395_3396delinsG (p.Lys1132SerfsTer18) c.3026_3027delinsG (p.Lys1009SerfsTer18) n.3395_3396delinsG | ClinVar |
| 13 | g.32337750_32337751delinsAA | CA2082816746 | BRCA2 | c.3395_3396delinsAA (p.Lys1132=) c.3026_3027delinsAA (p.Lys1009=) n.3395_3396delinsAA | |
| 13 | g.32337750_32337751delinsGG | CA16614276 | BRCA2 | c.3395_3396delinsGG (p.Lys1132Arg) c.3026_3027delinsGG (p.Lys1009Arg) n.3395_3396delinsGG | ClinVar dbSNP |
| 13 | g.32337751A= | CA1630855867 | BRCA2 | c.3396A= (p.Lys1132=) c.3027A= (p.Lys1009=) n.3396A= | |
| 13 | g.32337751A>C | CA017920 | BRCA2 | c.3396A>C (p.Lys1132Asn) c.3027A>C (p.Lys1009Asn) n.3396A>C | ClinVar dbSNP |
| 13 | g.32337751A>G | CA017926 | BRCA2 | c.3396A>G (p.Lys1132=) c.3027A>G (p.Lys1009=) n.3396A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337751A>T | CA387776462 | BRCA2 | c.3396A>T (p.Lys1132Asn) c.3027A>T (p.Lys1009Asn) n.3396A>T | |
| 13 | g.32337752C>A | CA387776464 | BRCA2 | c.3397C>A (p.Pro1133Thr) c.3028C>A (p.Pro1010Thr) n.3397C>A | ClinVar dbSNP |
| 13 | g.32337752C= | CA2082816763 | BRCA2 | c.3397C= (p.Pro1133=) c.3028C= (p.Pro1010=) n.3397C= | |
| 13 | g.32337752C>G | CA387776463 | BRCA2 | c.3397C>G (p.Pro1133Ala) c.3028C>G (p.Pro1010Ala) n.3397C>G | dbSNP |
| 13 | g.32337752C>T | CA017933 | BRCA2 | c.3397C>T (p.Pro1133Ser) c.3028C>T (p.Pro1010Ser) n.3397C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337753_32337757del | CA1139770859 | BRCA2 | c.3398_3402del (p.Pro1133LeufsTer9) c.3029_3033del (p.Pro1010LeufsTer9) n.3398_3402del | |
| 13 | g.32337753C>A | CA387776465 | BRCA2 | c.3398C>A (p.Pro1133Gln) c.3029C>A (p.Pro1010Gln) n.3398C>A | dbSNP |
| 13 | g.32337753C= | CA2082816772 | BRCA2 | c.3398C= (p.Pro1133=) c.3029C= (p.Pro1010=) n.3398C= | |
| 13 | g.32337753C>G | CA387776466 | BRCA2 | c.3398C>G (p.Pro1133Arg) c.3029C>G (p.Pro1010Arg) n.3398C>G | ClinVar dbSNP |
| 13 | g.32337753C>T | CA387776467 | BRCA2 | c.3398C>T (p.Pro1133Leu) c.3029C>T (p.Pro1010Leu) n.3398C>T | ClinVar dbSNP gnomAD v2 |
| 13 | g.32337754A>C | CA483437377 | BRCA2 | c.3399A>C (p.Pro1133=) c.3030A>C (p.Pro1010=) n.3399A>C | |
| 13 | g.32337754A>G | CA483437380 | BRCA2 | c.3399A>G (p.Pro1133=) c.3030A>G (p.Pro1010=) n.3399A>G | dbSNP |
| 13 | g.32337754A>T | CA483437379 | BRCA2 | c.3399A>T (p.Pro1133=) c.3030A>T (p.Pro1010=) n.3399A>T | dbSNP |
| 13 | g.32337755A= | CA2082816789 | BRCA2 | c.3400A= (p.Ser1134=) c.3031A= (p.Ser1011=) n.3400A= | |
| 13 | g.32337755A>C | CA387776468 | BRCA2 | c.3400A>C (p.Ser1134Arg) c.3031A>C (p.Ser1011Arg) n.3400A>C | |
| 13 | g.32337755A>G | CA387776469 | BRCA2 | c.3400A>G (p.Ser1134Gly) c.3031A>G (p.Ser1011Gly) n.3400A>G | ClinVar dbSNP |
| 13 | g.32337755A>T | CA387776470 | BRCA2 | c.3400A>T (p.Ser1134Cys) c.3031A>T (p.Ser1011Cys) n.3400A>T | dbSNP |
| 13 | g.32337755_32337756delinsAG | CA2082816792 | BRCA2 | c.3400_3401delinsAG (p.Ser1134=) c.3031_3032delinsAG (p.Ser1011=) n.3400_3401delinsAG | |
| 13 | g.32337757_32337774del | CA2580087071 | BRCA2 | c.3402_3419del (p.Tyr1135_Ser1140del) c.3033_3050del (p.Tyr1012_Ser1017del) n.3402_3419del | ClinVar |
| 13 | g.32337756del | CA658656408 | BRCA2 | c.3401del (p.Ser1134ThrfsTer16) c.3032del (p.Ser1011ThrfsTer16) n.3401del | ClinVar dbSNP |
| 13 | g.32337756G>A | CA387776471 | BRCA2 | c.3401G>A (p.Ser1134Asn) c.3032G>A (p.Ser1011Asn) n.3401G>A | ClinVar dbSNP |
| 13 | g.32337756G>C | CA017944 | BRCA2 | c.3401G>C (p.Ser1134Thr) c.3032G>C (p.Ser1011Thr) n.3401G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337756G= | CA2082816807 | BRCA2 | c.3401G= (p.Ser1134=) c.3032G= (p.Ser1011=) n.3401G= | |
| 13 | g.32337756G>T | CA387776472 | BRCA2 | c.3401G>T (p.Ser1134Ile) c.3032G>T (p.Ser1011Ile) n.3401G>T | dbSNP |
| 13 | g.32337757C>A | CA387776473 | BRCA2 | c.3402C>A (p.Ser1134Arg) c.3033C>A (p.Ser1011Arg) n.3402C>A | dbSNP |
| 13 | g.32337757C= | CA2082816812 | BRCA2 | c.3402C= (p.Ser1134=) c.3033C= (p.Ser1011=) n.3402C= | |
| 13 | g.32337757C>G | CA387776474 | BRCA2 | c.3402C>G (p.Ser1134Arg) c.3033C>G (p.Ser1011Arg) n.3402C>G | dbSNP |
| 13 | g.32337757C>T | CA483437387 | BRCA2 | c.3402C>T (p.Ser1134=) c.3033C>T (p.Ser1011=) n.3402C>T | ClinVar dbSNP |
| 13 | g.32337758T>A | CA387776476 | BRCA2 | c.3403T>A (p.Tyr1135Asn) c.3034T>A (p.Tyr1012Asn) n.3403T>A | dbSNP |
| 13 | g.32337758T>C | CA017950 | BRCA2 | c.3403T>C (p.Tyr1135His) c.3034T>C (p.Tyr1012His) n.3403T>C | ClinVar dbSNP |
| 13 | g.32337758T>G | CA387776475 | BRCA2 | c.3403T>G (p.Tyr1135Asp) c.3034T>G (p.Tyr1012Asp) n.3403T>G | ClinVar dbSNP |
| 13 | g.32337758T= | CA2082816817 | BRCA2 | c.3403T= (p.Tyr1135=) c.3034T= (p.Tyr1012=) n.3403T= | |
| 13 | g.32337759A= | CA2082816827 | BRCA2 | c.3404A= (p.Tyr1135=) c.3035A= (p.Tyr1012=) n.3404A= | |
| 13 | g.32337759A>C | CA387776477 | BRCA2 | c.3404A>C (p.Tyr1135Ser) c.3035A>C (p.Tyr1012Ser) n.3404A>C | dbSNP |
| 13 | g.32337759A>G | CA387776478 | BRCA2 | c.3404A>G (p.Tyr1135Cys) c.3035A>G (p.Tyr1012Cys) n.3404A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337759A>T | CA387776479 | BRCA2 | c.3404A>T (p.Tyr1135Phe) c.3035A>T (p.Tyr1012Phe) n.3404A>T | dbSNP |
| 13 | g.32337760C>A | CA10579576 | BRCA2 | c.3405C>A (p.Tyr1135Ter) c.3036C>A (p.Tyr1012Ter) n.3405C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337760C= | CA2082816839 | BRCA2 | c.3405C= (p.Tyr1135=) c.3036C= (p.Tyr1012=) n.3405C= | |
| 13 | g.32337760C>G | CA387776480 | BRCA2 | c.3405C>G (p.Tyr1135Ter) c.3036C>G (p.Tyr1012Ter) n.3405C>G | dbSNP |
| 13 | g.32337760C>T | CA483437399 | BRCA2 | c.3405C>T (p.Tyr1135=) c.3036C>T (p.Tyr1012=) n.3405C>T | dbSNP |
| 13 | g.32337761A= | CA2082816854 | BRCA2 | c.3406A= (p.Ile1136=) c.3037A= (p.Ile1013=) n.3406A= | |
| 13 | g.32337761A>C | CA387776481 | BRCA2 | c.3406A>C (p.Ile1136Leu) c.3037A>C (p.Ile1013Leu) n.3406A>C | |
| 13 | g.32337761A>G | CA10579577 | BRCA2 | c.3406A>G (p.Ile1136Val) c.3037A>G (p.Ile1013Val) n.3406A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337761A>T | CA387776482 | BRCA2 | c.3406A>T (p.Ile1136Leu) c.3037A>T (p.Ile1013Leu) n.3406A>T | ClinVar dbSNP |
| 13 | g.32337761_32337774delinsATATTGCAGAAGAG | CA2082816853 | BRCA2 | c.3406_3419delinsATATTGCAGAAGAG (p.Ile1136=) c.3037_3050delinsATATTGCAGAAGAG (p.Ile1013=) n.3406_3419delinsATATTGCAGAAGAG | |
| 13 | g.32337762T>A | CA387776483 | BRCA2 | c.3407T>A (p.Ile1136Lys) c.3038T>A (p.Ile1013Lys) n.3407T>A | |
| 13 | g.32337762T>C | CA017957 | BRCA2 | c.3407T>C (p.Ile1136Thr) c.3038T>C (p.Ile1013Thr) n.3407T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337762T>G | CA387776484 | BRCA2 | c.3407T>G (p.Ile1136Arg) c.3038T>G (p.Ile1013Arg) n.3407T>G | ClinVar dbSNP |
| 13 | g.32337762T= | CA2082816871 | BRCA2 | c.3407T= (p.Ile1136=) c.3038T= (p.Ile1013=) n.3407T= | |
| 13 | g.32337762_32337769delinsCATTGCAC | CA16619696 | BRCA2 | c.3407_3414delinsCATTGCAC (p.Ile1136_Gln1138delinsThrLeuHis) c.3038_3045delinsCATTGCAC (p.Ile1013_Gln1015delinsThrLeuHis) n.3407_3414delinsCATTGCAC | ClinVar dbSNP |
| 13 | g.32337762_32337769delinsTATTGCAG | CA2082816876 | BRCA2 | c.3407_3414delinsTATTGCAG (p.Ile1136=) c.3038_3045delinsTATTGCAG (p.Ile1013=) n.3407_3414delinsTATTGCAG | |
| 13 | g.32337764_32337776del | CA10589202 | BRCA2 | c.3409_3421del (p.Leu1137HisfsTer9) c.3040_3052del (p.Leu1014HisfsTer9) n.3409_3421del | ClinVar dbSNP |
| 13 | g.32337763A>C | CA483437404 | BRCA2 | c.3408A>C (p.Ile1136=) c.3039A>C (p.Ile1013=) n.3408A>C | |
| 13 | g.32337763A>G | CA387776485 | BRCA2 | c.3408A>G (p.Ile1136Met) c.3039A>G (p.Ile1013Met) n.3408A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337763A>T | CA483437405 | BRCA2 | c.3408A>T (p.Ile1136=) c.3039A>T (p.Ile1013=) n.3408A>T | dbSNP |
| 13 | g.32337763_32337764delinsAT | CA2082816884 | BRCA2 | c.3408_3409delinsAT (p.Ile1136=) c.3039_3040delinsAT (p.Ile1013=) n.3408_3409delinsAT | |
| 13 | g.32337764T>A | CA247504958 | BRCA2 | c.3409T>A (p.Leu1137Met) c.3040T>A (p.Leu1014Met) n.3409T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337764T>C | CA483437409 | BRCA2 | c.3409T>C (p.Leu1137=) c.3040T>C (p.Leu1014=) n.3409T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337764T>G | CA387776486 | BRCA2 | c.3409T>G (p.Leu1137Val) c.3040T>G (p.Leu1014Val) n.3409T>G | |
| 13 | g.32337764T= | CA2082816899 | BRCA2 | c.3409T= (p.Leu1137=) c.3040T= (p.Leu1014=) n.3409T= | |
| 13 | g.32337765del | CA919242444 | BRCA2 | c.3410del (p.Leu1137CysfsTer13) c.3041del (p.Leu1014CysfsTer13) n.3410del | dbSNP |
| 13 | g.32337765T>A | CA387776489 | BRCA2 | c.3410T>A (p.Leu1137Ter) c.3041T>A (p.Leu1014Ter) n.3410T>A | dbSNP |
| 13 | g.32337765T>C | CA387776487 | BRCA2 | c.3410T>C (p.Leu1137Ser) c.3041T>C (p.Leu1014Ser) n.3410T>C | ClinVar dbSNP |
| 13 | g.32337765T>G | CA387776488 | BRCA2 | c.3410T>G (p.Leu1137Trp) c.3041T>G (p.Leu1014Trp) n.3410T>G | |
| 13 | g.32337765T= | CA2082816911 | BRCA2 | c.3410T= (p.Leu1137=) c.3041T= (p.Leu1014=) n.3410T= | |
| 13 | g.32337766G>A | CA483437413 | BRCA2 | c.3411G>A (p.Leu1137=) c.3042G>A (p.Leu1014=) n.3411G>A | ClinVar dbSNP |
| 13 | g.32337766G>C | CA387776490 | BRCA2 | c.3411G>C (p.Leu1137Phe) c.3042G>C (p.Leu1014Phe) n.3411G>C | dbSNP |
| 13 | g.32337766G>T | CA387776491 | BRCA2 | c.3411G>T (p.Leu1137Phe) c.3042G>T (p.Leu1014Phe) n.3411G>T | dbSNP |
| 13 | g.32337766dup | CA165831 | BRCA2 | c.3411dup (p.Gln1138AlafsTer6) c.3042dup (p.Gln1015AlafsTer6) n.3411dup | ClinVar dbSNP |
| 13 | g.32337767C>A | CA387776492 | BRCA2 | c.3412C>A (p.Gln1138Lys) c.3043C>A (p.Gln1015Lys) n.3412C>A | ClinVar dbSNP |
| 13 | g.32337767C= | CA2082816922 | BRCA2 | c.3412C= (p.Gln1138=) c.3043C= (p.Gln1015=) n.3412C= | |
| 13 | g.32337767C>G | CA387776493 | BRCA2 | c.3412C>G (p.Gln1138Glu) c.3043C>G (p.Gln1015Glu) n.3412C>G | dbSNP |
| 13 | g.32337767C>T | CA017964 | BRCA2 | c.3412C>T (p.Gln1138Ter) c.3043C>T (p.Gln1015Ter) n.3412C>T | ClinVar dbSNP |
| 13 | g.32337768A= | CA2082816931 | BRCA2 | c.3413A= (p.Gln1138=) c.3044A= (p.Gln1015=) n.3413A= | |
| 13 | g.32337768A>C | CA387776494 | BRCA2 | c.3413A>C (p.Gln1138Pro) c.3044A>C (p.Gln1015Pro) n.3413A>C | |
| 13 | g.32337768A>G | CA387776495 | BRCA2 | c.3413A>G (p.Gln1138Arg) c.3044A>G (p.Gln1015Arg) n.3413A>G | ClinVar dbSNP |
| 13 | g.32337768A>T | CA017965 | BRCA2 | c.3413A>T (p.Gln1138Leu) c.3044A>T (p.Gln1015Leu) n.3413A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337769G>A | CA483437419 | BRCA2 | c.3414G>A (p.Gln1138=) c.3045G>A (p.Gln1015=) n.3414G>A | dbSNP |
| 13 | g.32337769G>C | CA017972 | BRCA2 | c.3414G>C (p.Gln1138His) c.3045G>C (p.Gln1015His) n.3414G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337769G= | CA2082816952 | BRCA2 | c.3414G= (p.Gln1138=) c.3045G= (p.Gln1015=) n.3414G= | |
| 13 | g.32337769G>T | CA387776496 | BRCA2 | c.3414G>T (p.Gln1138His) c.3045G>T (p.Gln1015His) n.3414G>T | dbSNP |
| 13 | g.32337769_32337775delinsGAAGAGT | CA2082816947 | BRCA2 | c.3414_3420delinsGAAGAGT (p.Gln1138=) c.3045_3051delinsGAAGAGT (p.Gln1015=) n.3414_3420delinsGAAGAGT | |
| 13 | g.32337770A= | CA2082816968 | BRCA2 | c.3415A= (p.Lys1139=) c.3046A= (p.Lys1016=) n.3415A= | |
| 13 | g.32337770A>C | CA10643168 | BRCA2 | c.3415A>C (p.Lys1139Gln) c.3046A>C (p.Lys1016Gln) n.3415A>C | ClinVar dbSNP |
| 13 | g.32337770A>G | CA6940694 | BRCA2 | c.3415A>G (p.Lys1139Glu) c.3046A>G (p.Lys1016Glu) n.3415A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337770A>T | CA387776497 | BRCA2 | c.3415A>T (p.Lys1139Ter) c.3046A>T (p.Lys1016Ter) n.3415A>T | dbSNP |
| 13 | g.32337770_32337775delinsG | CA915948451 | BRCA2 | c.3415_3420delinsG (p.Lys1139AspfsTer3) c.3046_3051delinsG (p.Lys1016AspfsTer3) n.3415_3420delinsG | ClinVar dbSNP |
| 13 | g.32337771A>C | CA387776498 | BRCA2 | c.3416A>C (p.Lys1139Thr) c.3047A>C (p.Lys1016Thr) n.3416A>C | |
| 13 | g.32337771A>G | CA387776500 | BRCA2 | c.3416A>G (p.Lys1139Arg) c.3047A>G (p.Lys1016Arg) n.3416A>G | gnomAD v4 |
| 13 | g.32337771A>T | CA387776499 | BRCA2 | c.3416A>T (p.Lys1139Met) c.3047A>T (p.Lys1016Met) n.3416A>T | ClinVar |
| 13 | g.32337772G>A | CA017974 | BRCA2 | c.3417G>A (p.Lys1139=) c.3048G>A (p.Lys1016=) n.3417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337772G>C | CA387776503 | BRCA2 | c.3417G>C (p.Lys1139Asn) c.3048G>C (p.Lys1016Asn) n.3417G>C | dbSNP |
| 13 | g.32337772G= | CA2082816989 | BRCA2 | c.3417G= (p.Lys1139=) c.3048G= (p.Lys1016=) n.3417G= | |
| 13 | g.32337772G>T | CA10584442 | BRCA2 | c.3417G>T (p.Lys1139Asn) c.3048G>T (p.Lys1016Asn) n.3417G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32337773A= | CA2082817003 | BRCA2 | c.3418A= (p.Ser1140=) c.3049A= (p.Ser1017=) n.3418A= | |
| 13 | g.32337773A>C | CA387776506 | BRCA2 | c.3418A>C (p.Ser1140Arg) c.3049A>C (p.Ser1017Arg) n.3418A>C | gnomAD v4 |
| 13 | g.32337773A>G | CA387776508 | BRCA2 | c.3418A>G (p.Ser1140Gly) c.3049A>G (p.Ser1017Gly) n.3418A>G | ClinVar dbSNP |
| 13 | g.32337773A>T | CA387776509 | BRCA2 | c.3418A>T (p.Ser1140Cys) c.3049A>T (p.Ser1017Cys) n.3418A>T | dbSNP |
| 13 | g.32337774_32337776del | CA2825002127 | BRCA2 | c.3419_3421del (p.Ser1140del) c.3050_3052del (p.Ser1017del) n.3419_3421del | ClinVar |
| 13 | g.32337774G>A | CA387776510 | BRCA2 | c.3419G>A (p.Ser1140Asn) c.3050G>A (p.Ser1017Asn) n.3419G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337774G>C | CA017980 | BRCA2 | c.3419G>C (p.Ser1140Thr) c.3050G>C (p.Ser1017Thr) n.3419G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337774G= | CA2082817012 | BRCA2 | c.3419G= (p.Ser1140=) c.3050G= (p.Ser1017=) n.3419G= | |
| 13 | g.32337774G>T | CA387776516 | BRCA2 | c.3419G>T (p.Ser1140Ile) c.3050G>T (p.Ser1017Ile) n.3419G>T | dbSNP |
| 13 | g.32337775T>A | CA387776518 | BRCA2 | c.3420T>A (p.Ser1140Arg) c.3051T>A (p.Ser1017Arg) n.3420T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337775T>C | CA017989 | BRCA2 | c.3420T>C (p.Ser1140=) c.3051T>C (p.Ser1017=) n.3420T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337775T>G | CA387776519 | BRCA2 | c.3420T>G (p.Ser1140Arg) c.3051T>G (p.Ser1017Arg) n.3420T>G | dbSNP |
| 13 | g.32337775T= | CA2082817028 | BRCA2 | c.3420T= (p.Ser1140=) c.3051T= (p.Ser1017=) n.3420T= | |
| 13 | g.32337775dup | CA2695218184 | BRCA2 | c.3420dup (p.Thr1141TyrfsTer3) c.3051dup (p.Thr1018TyrfsTer3) n.3420dup | |
| 13 | g.32337776A>C | CA387776523 | BRCA2 | c.3421A>C (p.Thr1141Pro) c.3052A>C (p.Thr1018Pro) n.3421A>C | dbSNP |
| 13 | g.32337776A>G | CA387776524 | BRCA2 | c.3421A>G (p.Thr1141Ala) c.3052A>G (p.Thr1018Ala) n.3421A>G | dbSNP |
| 13 | g.32337776A>T | CA387776521 | BRCA2 | c.3421A>T (p.Thr1141Ser) c.3052A>T (p.Thr1018Ser) n.3421A>T | dbSNP |
| 13 | g.32337776_32337777delinsAC | CA2082817038 | BRCA2 | c.3421_3422delinsAC (p.Thr1141=) c.3052_3053delinsAC (p.Thr1018=) n.3421_3422delinsAC | |
| 13 | g.32337777del | CA10585893 | BRCA2 | c.3422del (p.Thr1141AsnfsTer9) c.3053del (p.Thr1018AsnfsTer9) n.3422del | ClinVar dbSNP |
| 13 | g.32337777C>A | CA387776526 | BRCA2 | c.3422C>A (p.Thr1141Lys) c.3053C>A (p.Thr1018Lys) n.3422C>A | dbSNP |
| 13 | g.32337777C= | CA2082817050 | BRCA2 | c.3422C= (p.Thr1141=) c.3053C= (p.Thr1018=) n.3422C= | |
| 13 | g.32337777C>G | CA387776527 | BRCA2 | c.3422C>G (p.Thr1141Arg) c.3053C>G (p.Thr1018Arg) n.3422C>G | dbSNP |
| 13 | g.32337777C>T | CA017995 | BRCA2 | c.3422C>T (p.Thr1141Ile) c.3053C>T (p.Thr1018Ile) n.3422C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337778A= | CA2082817056 | BRCA2 | c.3423A= (p.Thr1141=) c.3054A= (p.Thr1018=) n.3423A= | |
| 13 | g.32337778A>C | CA483437439 | BRCA2 | c.3423A>C (p.Thr1141=) c.3054A>C (p.Thr1018=) n.3423A>C | ClinVar dbSNP |
| 13 | g.32337778A>G | CA16606782 | BRCA2 | c.3423A>G (p.Thr1141=) c.3054A>G (p.Thr1018=) n.3423A>G | ClinVar dbSNP |
| 13 | g.32337778A>T | CA483437440 | BRCA2 | c.3423A>T (p.Thr1141=) c.3054A>T (p.Thr1018=) n.3423A>T | |
| 13 | g.32337779T>A | CA387776535 | BRCA2 | c.3424T>A (p.Phe1142Ile) c.3055T>A (p.Phe1019Ile) n.3424T>A | dbSNP |
| 13 | g.32337779T>C | CA387776533 | BRCA2 | c.3424T>C (p.Phe1142Leu) c.3055T>C (p.Phe1019Leu) n.3424T>C | ClinVar dbSNP |
| 13 | g.32337779T>G | CA387776532 | BRCA2 | c.3424T>G (p.Phe1142Val) c.3055T>G (p.Phe1019Val) n.3424T>G | |
| 13 | g.32337779T= | CA2082817060 | BRCA2 | c.3424T= (p.Phe1142=) c.3055T= (p.Phe1019=) n.3424T= | |
| 13 | g.32337781del | CA2838032171 | BRCA2 | c.3426del (p.Phe1142LeufsTer8) c.3057del (p.Phe1019LeufsTer8) n.3426del | |
| 13 | g.32337780T>A | CA387776537 | BRCA2 | c.3425T>A (p.Phe1142Tyr) c.3056T>A (p.Phe1019Tyr) n.3425T>A | dbSNP |
| 13 | g.32337780T>C | CA387776538 | BRCA2 | c.3425T>C (p.Phe1142Ser) c.3056T>C (p.Phe1019Ser) n.3425T>C | dbSNP |
| 13 | g.32337780T>G | CA387776541 | BRCA2 | c.3425T>G (p.Phe1142Cys) c.3056T>G (p.Phe1019Cys) n.3425T>G | |
| 13 | g.32337781T>A | CA387776543 | BRCA2 | c.3426T>A (p.Phe1142Leu) c.3057T>A (p.Phe1019Leu) n.3426T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337781T>C | CA6940695 | BRCA2 | c.3426T>C (p.Phe1142=) c.3057T>C (p.Phe1019=) n.3426T>C | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32337781T>G | CA387776545 | BRCA2 | c.3426T>G (p.Phe1142Leu) c.3057T>G (p.Phe1019Leu) n.3426T>G | |
| 13 | g.32337781T= | CA2082817073 | BRCA2 | c.3426T= (p.Phe1142=) c.3057T= (p.Phe1019=) n.3426T= | |
| 13 | g.32337782G>A | CA387776546 | BRCA2 | c.3427G>A (p.Glu1143Lys) c.3058G>A (p.Glu1020Lys) n.3427G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337782G>C | CA387776549 | BRCA2 | c.3427G>C (p.Glu1143Gln) c.3058G>C (p.Glu1020Gln) n.3427G>C | dbSNP |
| 13 | g.32337782G= | CA2082817098 | BRCA2 | c.3427G= (p.Glu1143=) c.3058G= (p.Glu1020=) n.3427G= | |
| 13 | g.32337782G>T | CA387776548 | BRCA2 | c.3427G>T (p.Glu1143Ter) c.3058G>T (p.Glu1020Ter) n.3427G>T | dbSNP |
| 13 | g.32337783A>C | CA387776550 | BRCA2 | c.3428A>C (p.Glu1143Ala) c.3059A>C (p.Glu1020Ala) n.3428A>C | |
| 13 | g.32337783A>G | CA387776553 | BRCA2 | c.3428A>G (p.Glu1143Gly) c.3059A>G (p.Glu1020Gly) n.3428A>G | dbSNP |
| 13 | g.32337783A>T | CA387776555 | BRCA2 | c.3428A>T (p.Glu1143Val) c.3059A>T (p.Glu1020Val) n.3428A>T | dbSNP |
| 13 | g.32337784A>C | CA387776561 | BRCA2 | c.3429A>C (p.Glu1143Asp) c.3060A>C (p.Glu1020Asp) n.3429A>C | |
| 13 | g.32337784A>G | CA483437449 | BRCA2 | c.3429A>G (p.Glu1143=) c.3060A>G (p.Glu1020=) n.3429A>G | dbSNP |
| 13 | g.32337784A>T | CA387776562 | BRCA2 | c.3429A>T (p.Glu1143Asp) c.3060A>T (p.Glu1020Asp) n.3429A>T | dbSNP COSMIC |
| 13 | g.32337784_32337785delinsAG | CA2082817105 | BRCA2 | c.3429_3430delinsAG (p.Glu1143=) c.3060_3061delinsAG (p.Glu1020=) n.3429_3430delinsAG | |
| 13 | g.32337785del | CA915948452 | BRCA2 | c.3430del (p.Val1144CysfsTer6) c.3061del (p.Val1021CysfsTer6) n.3430del | ClinVar dbSNP |
| 13 | g.32337785G>A | CA387776564 | BRCA2 | c.3430G>A (p.Val1144Met) c.3061G>A (p.Val1021Met) n.3430G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337785G>C | CA387776565 | BRCA2 | c.3430G>C (p.Val1144Leu) c.3061G>C (p.Val1021Leu) n.3430G>C | dbSNP |
| 13 | g.32337785G= | CA2082817116 | BRCA2 | c.3430G= (p.Val1144=) c.3061G= (p.Val1021=) n.3430G= | |
| 13 | g.32337785G>T | CA387776567 | BRCA2 | c.3430G>T (p.Val1144Leu) c.3061G>T (p.Val1021Leu) n.3430G>T | |
| 13 | g.32337786T>A | CA387776569 | BRCA2 | c.3431T>A (p.Val1144Glu) c.3062T>A (p.Val1021Glu) n.3431T>A | dbSNP |
| 13 | g.32337786T>C | CA387776571 | BRCA2 | c.3431T>C (p.Val1144Ala) c.3062T>C (p.Val1021Ala) n.3431T>C | ClinVar |
| 13 | g.32337786T>G | CA017998 | BRCA2 | c.3431T>G (p.Val1144Gly) c.3062T>G (p.Val1021Gly) n.3431T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337786T= | CA2082817122 | BRCA2 | c.3431T= (p.Val1144=) c.3062T= (p.Val1021=) n.3431T= | |
| 13 | g.32337786_32337788delinsTGC | CA2082817131 | BRCA2 | c.3431_3433delinsTGC (p.Val1144=) c.3062_3064delinsTGC (p.Val1021=) n.3431_3433delinsTGC | |
| 13 | g.32337787G>A | CA483437454 | BRCA2 | c.3432G>A (p.Val1144=) c.3063G>A (p.Val1021=) n.3432G>A | ClinVar dbSNP |
| 13 | g.32337787G>C | CA6940696 | BRCA2 | c.3432G>C (p.Val1144=) c.3063G>C (p.Val1021=) n.3432G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337787G= | CA2082817144 | BRCA2 | c.3432G= (p.Val1144=) c.3063G= (p.Val1021=) n.3432G= | |
| 13 | g.32337787G>T | CA483437456 | BRCA2 | c.3432G>T (p.Val1144=) c.3063G>T (p.Val1021=) n.3432G>T | |
| 13 | g.32337787_32337788del | CA919242448 | BRCA2 | c.3432_3433del (p.Pro1145Ter) c.3063_3064del (p.Pro1022Ter) n.3432_3433del | dbSNP |
| 13 | g.32337788C>A | CA387776575 | BRCA2 | c.3433C>A (p.Pro1145Thr) c.3064C>A (p.Pro1022Thr) n.3433C>A | dbSNP |
| 13 | g.32337788C= | CA2082817154 | BRCA2 | c.3433C= (p.Pro1145=) c.3064C= (p.Pro1022=) n.3433C= | |
| 13 | g.32337788C>G | CA387776577 | BRCA2 | c.3433C>G (p.Pro1145Ala) c.3064C>G (p.Pro1022Ala) n.3433C>G | ClinVar dbSNP |
| 13 | g.32337788C>T | CA387776580 | BRCA2 | c.3433C>T (p.Pro1145Ser) c.3064C>T (p.Pro1022Ser) n.3433C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337789C>A | CA387776583 | BRCA2 | c.3434C>A (p.Pro1145His) c.3065C>A (p.Pro1022His) n.3434C>A | dbSNP |
| 13 | g.32337789C= | CA2082817162 | BRCA2 | c.3434C= (p.Pro1145=) c.3065C= (p.Pro1022=) n.3434C= | |
| 13 | g.32337789C>G | CA387776591 | BRCA2 | c.3434C>G (p.Pro1145Arg) c.3065C>G (p.Pro1022Arg) n.3434C>G | ClinVar dbSNP |
| 13 | g.32337789C>T | CA018004 | BRCA2 | c.3434C>T (p.Pro1145Leu) c.3065C>T (p.Pro1022Leu) n.3434C>T | ClinVar dbSNP |
| 13 | g.32337790T>A | CA483437458 | BRCA2 | c.3435T>A (p.Pro1145=) c.3066T>A (p.Pro1022=) n.3435T>A | |
| 13 | g.32337790T>C | CA483437461 | BRCA2 | c.3435T>C (p.Pro1145=) c.3066T>C (p.Pro1022=) n.3435T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337790T>G | CA483437460 | BRCA2 | c.3435T>G (p.Pro1145=) c.3066T>G (p.Pro1022=) n.3435T>G | |
| 13 | g.32337790T= | CA2082817171 | BRCA2 | c.3435T= (p.Pro1145=) c.3066T= (p.Pro1022=) n.3435T= | |
| 13 | g.32337791G>A | CA387776594 | BRCA2 | c.3436G>A (p.Glu1146Lys) c.3067G>A (p.Glu1023Lys) n.3436G>A | ClinVar dbSNP |
| 13 | g.32337791G>C | CA387776597 | BRCA2 | c.3436G>C (p.Glu1146Gln) c.3067G>C (p.Glu1023Gln) n.3436G>C | |
| 13 | g.32337791G= | CA2082817176 | BRCA2 | c.3436G= (p.Glu1146=) c.3067G= (p.Glu1023=) n.3436G= | |
| 13 | g.32337791G>T | CA387776599 | BRCA2 | c.3436G>T (p.Glu1146Ter) c.3067G>T (p.Glu1023Ter) n.3436G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337792A= | CA2082817191 | BRCA2 | c.3437A= (p.Glu1146=) c.3068A= (p.Glu1023=) n.3437A= | |
| 13 | g.32337792A>C | CA387776602 | BRCA2 | c.3437A>C (p.Glu1146Ala) c.3068A>C (p.Glu1023Ala) n.3437A>C | |
| 13 | g.32337792A>G | CA018008 | BRCA2 | c.3437A>G (p.Glu1146Gly) c.3068A>G (p.Glu1023Gly) n.3437A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337792A>T | CA10576065 | BRCA2 | c.3437A>T (p.Glu1146Val) c.3068A>T (p.Glu1023Val) n.3437A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337795del | CA2580087075 | BRCA2 | c.3440del (p.Asn1147ThrfsTer3) c.3071del (p.Asn1024ThrfsTer3) n.3440del | ClinVar |
| 13 | g.32337793A>C | CA387776608 | BRCA2 | c.3438A>C (p.Glu1146Asp) c.3069A>C (p.Glu1023Asp) n.3438A>C | |
| 13 | g.32337793A>G | CA483437463 | BRCA2 | c.3438A>G (p.Glu1146=) c.3069A>G (p.Glu1023=) n.3438A>G | |
| 13 | g.32337793A>T | CA387776610 | BRCA2 | c.3438A>T (p.Glu1146Asp) c.3069A>T (p.Glu1023Asp) n.3438A>T | dbSNP |
| 13 | g.32337794A>C | CA387776611 | BRCA2 | c.3439A>C (p.Asn1147His) c.3070A>C (p.Asn1024His) n.3439A>C | |
| 13 | g.32337794A>G | CA387776612 | BRCA2 | c.3439A>G (p.Asn1147Asp) c.3070A>G (p.Asn1024Asp) n.3439A>G | dbSNP |
| 13 | g.32337794A>T | CA387776615 | BRCA2 | c.3439A>T (p.Asn1147Tyr) c.3070A>T (p.Asn1024Tyr) n.3439A>T | dbSNP |
| 13 | g.32337795A= | CA2018046951 | BRCA2 | c.3440A= (p.Asn1147=) c.3071A= (p.Asn1024=) n.3440A= | |
| 13 | g.32337795A>C | CA387776618 | BRCA2 | c.3440A>C (p.Asn1147Thr) c.3071A>C (p.Asn1024Thr) n.3440A>C | |
| 13 | g.32337795A>G | CA247505007 | BRCA2 | c.3440A>G (p.Asn1147Ser) c.3071A>G (p.Asn1024Ser) n.3440A>G | dbSNP |
| 13 | g.32337795A>T | CA387776620 | BRCA2 | c.3440A>T (p.Asn1147Ile) c.3071A>T (p.Asn1024Ile) n.3440A>T | ClinVar |
| 13 | g.32337796C>A | CA387776622 | BRCA2 | c.3441C>A (p.Asn1147Lys) c.3072C>A (p.Asn1024Lys) n.3441C>A | dbSNP COSMIC COSMIC |
| 13 | g.32337796C>G | CA387776625 | BRCA2 | c.3441C>G (p.Asn1147Lys) c.3072C>G (p.Asn1024Lys) n.3441C>G | dbSNP |
| 13 | g.32337796C>T | CA483437466 | BRCA2 | c.3441C>T (p.Asn1147=) c.3072C>T (p.Asn1024=) n.3441C>T | dbSNP |
| 13 | g.32337797C>A | CA387776628 | BRCA2 | c.3442C>A (p.Gln1148Lys) c.3073C>A (p.Gln1025Lys) n.3442C>A | dbSNP |
| 13 | g.32337797C= | CA2082817207 | BRCA2 | c.3442C= (p.Gln1148=) c.3073C= (p.Gln1025=) n.3442C= | |
| 13 | g.32337797C>G | CA387776630 | BRCA2 | c.3442C>G (p.Gln1148Glu) c.3073C>G (p.Gln1025Glu) n.3442C>G | dbSNP |
| 13 | g.32337797C>T | CA018022 | BRCA2 | c.3442C>T (p.Gln1148Ter) c.3073C>T (p.Gln1025Ter) n.3442C>T | ClinVar dbSNP |
| 13 | g.32337798A= | CA2082817218 | BRCA2 | c.3443A= (p.Gln1148=) c.3074A= (p.Gln1025=) n.3443A= | |
| 13 | g.32337798A>C | CA387776642 | BRCA2 | c.3443A>C (p.Gln1148Pro) c.3074A>C (p.Gln1025Pro) n.3443A>C | |
| 13 | g.32337798A>G | CA018029 | BRCA2 | c.3443A>G (p.Gln1148Arg) c.3074A>G (p.Gln1025Arg) n.3443A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337798A>T | CA387776645 | BRCA2 | c.3443A>T (p.Gln1148Leu) c.3074A>T (p.Gln1025Leu) n.3443A>T | ClinVar dbSNP |
| 13 | g.32337799G>A | CA483437472 | BRCA2 | c.3444G>A (p.Gln1148=) c.3075G>A (p.Gln1025=) n.3444G>A | dbSNP |
| 13 | g.32337799G>C | CA387776646 | BRCA2 | c.3444G>C (p.Gln1148His) c.3075G>C (p.Gln1025His) n.3444G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337799G= | CA2082817228 | BRCA2 | c.3444G= (p.Gln1148=) c.3075G= (p.Gln1025=) n.3444G= | |
| 13 | g.32337799G>T | CA387776648 | BRCA2 | c.3444G>T (p.Gln1148His) c.3075G>T (p.Gln1025His) n.3444G>T | dbSNP |
| 13 | g.32337800A= | CA2082817242 | BRCA2 | c.3445A= (p.Met1149=) c.3076A= (p.Met1026=) n.3445A= | |
| 13 | g.32337800A>C | CA387776650 | BRCA2 | c.3445A>C (p.Met1149Leu) c.3076A>C (p.Met1026Leu) n.3445A>C | |
| 13 | g.32337800A>G | CA018035 | BRCA2 | c.3445A>G (p.Met1149Val) c.3076A>G (p.Met1026Val) n.3445A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337800A>T | CA387776653 | BRCA2 | c.3445A>T (p.Met1149Leu) c.3076A>T (p.Met1026Leu) n.3445A>T | ClinVar dbSNP |
| 13 | g.32337800_32337801dup | CA2499222132 | BRCA2 | c.3445_3446dup (p.Met1149IlefsTer2) c.3076_3077dup (p.Met1026IlefsTer2) n.3445_3446dup | |
| 13 | g.32337801T>A | CA387776656 | BRCA2 | c.3446T>A (p.Met1149Lys) c.3077T>A (p.Met1026Lys) n.3446T>A | dbSNP gnomAD v4 |
| 13 | g.32337801T>C | CA018041 | BRCA2 | c.3446T>C (p.Met1149Thr) c.3077T>C (p.Met1026Thr) n.3446T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337801T>G | CA387776660 | BRCA2 | c.3446T>G (p.Met1149Arg) c.3077T>G (p.Met1026Arg) n.3446T>G | dbSNP |
| 13 | g.32337801T= | CA2082817247 | BRCA2 | c.3446T= (p.Met1149=) c.3077T= (p.Met1026=) n.3446T= | |
| 13 | g.32337801dup | CA2697551772 | BRCA2 | c.3446dup (p.Met1149IlefsTer9) c.3077dup (p.Met1026IlefsTer9) n.3446dup | ClinVar |
| 13 | g.32337802del | CA2580087076 | BRCA2 | c.3447del (p.Met1149IlefsTer4) c.3078del (p.Met1026IlefsTer4) n.3447del | ClinVar |
| 13 | g.32337802G>A | CA10579578 | BRCA2 | c.3447G>A (p.Met1149Ile) c.3078G>A (p.Met1026Ile) n.3447G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337802G>C | CA387776663 | BRCA2 | c.3447G>C (p.Met1149Ile) c.3078G>C (p.Met1026Ile) n.3447G>C | dbSNP |
| 13 | g.32337802G= | CA2082817268 | BRCA2 | c.3447G= (p.Met1149=) c.3078G= (p.Met1026=) n.3447G= | |
| 13 | g.32337802G>T | CA387776665 | BRCA2 | c.3447G>T (p.Met1149Ile) c.3078G>T (p.Met1026Ile) n.3447G>T | dbSNP gnomAD v4 |
| 13 | g.32337803A= | CA2082817278 | BRCA2 | c.3448A= (p.Thr1150=) c.3079A= (p.Thr1027=) n.3448A= | |
| 13 | g.32337803A>C | CA387776668 | BRCA2 | c.3448A>C (p.Thr1150Pro) c.3079A>C (p.Thr1027Pro) n.3448A>C | |
| 13 | g.32337803A>G | CA387776669 | BRCA2 | c.3448A>G (p.Thr1150Ala) c.3079A>G (p.Thr1027Ala) n.3448A>G | ClinVar dbSNP |
| 13 | g.32337803A>T | CA247505019 | BRCA2 | c.3448A>T (p.Thr1150Ser) c.3079A>T (p.Thr1027Ser) n.3448A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337803_32337804insAG | CA658823667 | BRCA2 | c.3448_3449insAG (p.Thr1150LysfsTer4) c.3079_3080insAG (p.Thr1027LysfsTer4) n.3448_3449insAG | ClinVar dbSNP |
| 13 | g.32337804del | CA2697551773 | BRCA2 | c.3449del (p.Thr1150IlefsTer3) c.3080del (p.Thr1027IlefsTer3) n.3449del | ClinVar |
| 13 | g.32337804C>A | CA387776671 | BRCA2 | c.3449C>A (p.Thr1150Asn) c.3080C>A (p.Thr1027Asn) n.3449C>A | dbSNP |
| 13 | g.32337804C= | CA2082817289 | BRCA2 | c.3449C= (p.Thr1150=) c.3080C= (p.Thr1027=) n.3449C= | |
| 13 | g.32337804C>G | CA018054 | BRCA2 | c.3449C>G (p.Thr1150Ser) c.3080C>G (p.Thr1027Ser) n.3449C>G | ClinVar dbSNP |
| 13 | g.32337804C>T | CA387776675 | BRCA2 | c.3449C>T (p.Thr1150Ile) c.3080C>T (p.Thr1027Ile) n.3449C>T | ClinVar dbSNP |
| 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 |