| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32337098_32337102del | CA016222 | BRCA2 | c.2743_2747del (p.Thr915CysfsTer19) c.2374_2378del (p.Thr792CysfsTer19) n.2743_2747del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337099_32337101delinsCTT | CA2082810915 | BRCA2 | c.2744_2746delinsCTT (p.Thr915=) c.2375_2377delinsCTT (p.Thr792=) n.2744_2746delinsCTT | |
| 13 | g.32337100_32337101del | CA10589168 | BRCA2 | c.2745_2746del (p.Val917LysfsTer18) c.2376_2377del (p.Val794LysfsTer18) n.2745_2746del | ClinVar dbSNP |
| 13 | g.32337101_32337105dup | CA2573149398 | BRCA2 | c.2746_2750dup (p.Asn918ValfsTer2) c.2377_2381dup (p.Asn795ValfsTer2) n.2746_2750dup | ClinVar dbSNP |
| 13 | g.32337101T>A | CA387773631 | BRCA2 | c.2746T>A (p.Cys916Ser) c.2377T>A (p.Cys793Ser) n.2746T>A | dbSNP |
| 13 | g.32337101T>C | CA387773630 | BRCA2 | c.2746T>C (p.Cys916Arg) c.2377T>C (p.Cys793Arg) n.2746T>C | |
| 13 | g.32337101T>G | CA387773629 | BRCA2 | c.2746T>G (p.Cys916Gly) c.2377T>G (p.Cys793Gly) n.2746T>G | |
| 13 | g.32337102G>A | CA387773632 | BRCA2 | c.2747G>A (p.Cys916Tyr) c.2378G>A (p.Cys793Tyr) n.2747G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337102G>C | CA387773633 | BRCA2 | c.2747G>C (p.Cys916Ser) c.2378G>C (p.Cys793Ser) n.2747G>C | ClinVar gnomAD v4 |
| 13 | g.32337102G= | CA2082810930 | BRCA2 | c.2747G= (p.Cys916=) c.2378G= (p.Cys793=) n.2747G= | |
| 13 | g.32337102G>T | CA387773634 | BRCA2 | c.2747G>T (p.Cys916Phe) c.2378G>T (p.Cys793Phe) n.2747G>T | ClinVar dbSNP |
| 13 | g.32337102_32337103delinsGT | CA2082810929 | BRCA2 | c.2747_2748delinsGT (p.Cys916=) c.2378_2379delinsGT (p.Cys793=) n.2747_2748delinsGT | |
| 13 | g.32337103del | CA10589169 | BRCA2 | c.2748del (p.Cys916TrpfsTer2) c.2379del (p.Cys793TrpfsTer2) n.2748del | ClinVar dbSNP |
| 13 | g.32337103T>A | CA016242 | BRCA2 | c.2748T>A (p.Cys916Ter) c.2379T>A (p.Cys793Ter) n.2748T>A | ClinVar dbSNP |
| 13 | g.32337103T>C | CA483437331 | BRCA2 | c.2748T>C (p.Cys916=) c.2379T>C (p.Cys793=) n.2748T>C | gnomAD v4 |
| 13 | g.32337103T>G | CA387773635 | BRCA2 | c.2748T>G (p.Cys916Trp) c.2379T>G (p.Cys793Trp) n.2748T>G | dbSNP |
| 13 | g.32337103T= | CA2082810947 | BRCA2 | c.2748T= (p.Cys916=) c.2379T= (p.Cys793=) n.2748T= | |
| 13 | g.32337104G>A | CA387773636 | BRCA2 | c.2749G>A (p.Val917Ile) c.2380G>A (p.Val794Ile) n.2749G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337104G>C | CA387773638 | BRCA2 | c.2749G>C (p.Val917Leu) c.2380G>C (p.Val794Leu) n.2749G>C | dbSNP |
| 13 | g.32337104G= | CA2082810956 | BRCA2 | c.2749G= (p.Val917=) c.2380G= (p.Val794=) n.2749G= | |
| 13 | g.32337104G>T | CA387773637 | BRCA2 | c.2749G>T (p.Val917Leu) c.2380G>T (p.Val794Leu) n.2749G>T | dbSNP |
| 13 | g.32337105T>A | CA387773639 | BRCA2 | c.2750T>A (p.Val917Glu) c.2381T>A (p.Val794Glu) n.2750T>A | ClinVar |
| 13 | g.32337105T>C | CA16020671 | BRCA2 | c.2750T>C (p.Val917Ala) c.2381T>C (p.Val794Ala) n.2750T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337105T>G | CA387773640 | BRCA2 | c.2750T>G (p.Val917Gly) c.2381T>G (p.Val794Gly) n.2750T>G | |
| 13 | g.32337105T= | CA2082810964 | BRCA2 | c.2750T= (p.Val917=) c.2381T= (p.Val794=) n.2750T= | |
| 13 | g.32337105_32337106delinsTA | CA2082810963 | BRCA2 | c.2750_2751delinsTA (p.Val917=) c.2381_2382delinsTA (p.Val794=) n.2750_2751delinsTA | |
| 13 | g.32337106A= | CA2082810980 | BRCA2 | c.2751A= (p.Val917=) c.2382A= (p.Val794=) n.2751A= | |
| 13 | g.32337106A>C | CA483437334 | BRCA2 | c.2751A>C (p.Val917=) c.2382A>C (p.Val794=) n.2751A>C | |
| 13 | g.32337106A>G | CA016257 | BRCA2 | c.2751A>G (p.Val917=) c.2382A>G (p.Val794=) n.2751A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337106A>T | CA483437335 | BRCA2 | c.2751A>T (p.Val917=) c.2382A>T (p.Val794=) n.2751A>T | dbSNP |
| 13 | g.32337108del | CA10589170 | BRCA2 | c.2753del (p.Asn918ThrfsTer?) c.2384del (p.Asn795ThrfsTer?) n.2753del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337107A= | CA2082810988 | BRCA2 | c.2752A= (p.Asn918=) c.2383A= (p.Asn795=) n.2752A= | |
| 13 | g.32337107A>C | CA387773641 | BRCA2 | c.2752A>C (p.Asn918His) c.2383A>C (p.Asn795His) n.2752A>C | dbSNP |
| 13 | g.32337107A>G | CA387773642 | BRCA2 | c.2752A>G (p.Asn918Asp) c.2383A>G (p.Asn795Asp) n.2752A>G | dbSNP |
| 13 | g.32337107A>T | CA387773643 | BRCA2 | c.2752A>T (p.Asn918Tyr) c.2383A>T (p.Asn795Tyr) n.2752A>T | dbSNP |
| 13 | g.32337108A>C | CA387773644 | BRCA2 | c.2753A>C (p.Asn918Thr) c.2384A>C (p.Asn795Thr) n.2753A>C | dbSNP |
| 13 | g.32337108A>G | CA387773645 | BRCA2 | c.2753A>G (p.Asn918Ser) c.2384A>G (p.Asn795Ser) n.2753A>G | ClinVar dbSNP |
| 13 | g.32337108A>T | CA387773646 | BRCA2 | c.2753A>T (p.Asn918Ile) c.2384A>T (p.Asn795Ile) n.2753A>T | dbSNP |
| 13 | g.32337108_32337109delinsAC | CA2082810989 | BRCA2 | c.2753_2754delinsAC (p.Asn918=) c.2384_2385delinsAC (p.Asn795=) n.2753_2754delinsAC | |
| 13 | g.32337109del | CA645509341 | BRCA2 | c.2754del (p.Asn918LysfsTer?) c.2385del (p.Asn795LysfsTer?) n.2754del | ClinVar dbSNP |
| 13 | g.32337109C>A | CA387773647 | BRCA2 | c.2754C>A (p.Asn918Lys) c.2385C>A (p.Asn795Lys) n.2754C>A | dbSNP |
| 13 | g.32337109C= | CA2082810991 | BRCA2 | c.2754C= (p.Asn918=) c.2385C= (p.Asn795=) n.2754C= | |
| 13 | g.32337109C>G | CA387773648 | BRCA2 | c.2754C>G (p.Asn918Lys) c.2385C>G (p.Asn795Lys) n.2754C>G | ClinVar dbSNP |
| 13 | g.32337109C>T | CA016262 | BRCA2 | c.2754C>T (p.Asn918=) c.2385C>T (p.Asn795=) n.2754C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337110G>A | CA016270 | BRCA2 | c.2755G>A (p.Glu919Lys) c.2386G>A (p.Glu796Lys) n.2755G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337110G>C | CA387773650 | BRCA2 | c.2755G>C (p.Glu919Gln) c.2386G>C (p.Glu796Gln) n.2755G>C | ClinVar dbSNP |
| 13 | g.32337110G= | CA2082811000 | BRCA2 | c.2755G= (p.Glu919=) c.2386G= (p.Glu796=) n.2755G= | |
| 13 | g.32337110G>T | CA387773649 | BRCA2 | c.2755G>T (p.Glu919Ter) c.2386G>T (p.Glu796Ter) n.2755G>T | ClinVar dbSNP |
| 13 | g.32337111A>C | CA387773651 | BRCA2 | c.2756A>C (p.Glu919Ala) c.2387A>C (p.Glu796Ala) n.2756A>C | dbSNP |
| 13 | g.32337111A>G | CA387773652 | BRCA2 | c.2756A>G (p.Glu919Gly) c.2387A>G (p.Glu796Gly) n.2756A>G | |
| 13 | g.32337111A>T | CA387773653 | BRCA2 | c.2756A>T (p.Glu919Val) c.2387A>T (p.Glu796Val) n.2756A>T | dbSNP |
| 13 | g.32337112del | CA1139768291 | BRCA2 | c.2757del (p.Glu919AspfsTer?) c.2388del (p.Glu796AspfsTer?) n.2757del | |
| 13 | g.32337112A= | CA2082811028 | BRCA2 | c.2757A= (p.Glu919=) c.2388A= (p.Glu796=) n.2757A= | |
| 13 | g.32337112A>C | CA387773654 | BRCA2 | c.2757A>C (p.Glu919Asp) c.2388A>C (p.Glu796Asp) n.2757A>C | dbSNP |
| 13 | g.32337112A>G | CA483437340 | BRCA2 | c.2757A>G (p.Glu919=) c.2388A>G (p.Glu796=) n.2757A>G | dbSNP |
| 13 | g.32337112A>T | CA387773655 | BRCA2 | c.2757A>T (p.Glu919Asp) c.2388A>T (p.Glu796Asp) n.2757A>T | |
| 13 | g.32337112_32337113delinsAC | CA2082811023 | BRCA2 | c.2757_2758delinsAC (p.Glu919=) c.2388_2389delinsAC (p.Glu796=) n.2757_2758delinsAC | |
| 13 | g.32337112_32337113insATGG | CA658823637 | BRCA2 | c.2757_2758insATGG (p.Pro920MetfsTer17) c.2388_2389insATGG (p.Pro797MetfsTer17) n.2757_2758insATGG | ClinVar dbSNP |
| 13 | g.32337113C>A | CA016278 | BRCA2 | c.2758C>A (p.Pro920Thr) c.2389C>A (p.Pro797Thr) n.2758C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337113C= | CA2082811058 | BRCA2 | c.2758C= (p.Pro920=) c.2389C= (p.Pro797=) n.2758C= | |
| 13 | g.32337113C>G | CA387773656 | BRCA2 | c.2758C>G (p.Pro920Ala) c.2389C>G (p.Pro797Ala) n.2758C>G | dbSNP |
| 13 | g.32337113C>T | CA016284 | BRCA2 | c.2758C>T (p.Pro920Ser) c.2389C>T (p.Pro797Ser) n.2758C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32337115del | CA016290 | BRCA2 | c.2760del (p.Ile921PhefsTer?) c.2391del (p.Ile798PhefsTer?) n.2760del | ClinVar dbSNP |
| 13 | g.32337113_32337114insATGG | CA10589171 | BRCA2 | c.2758_2759insATGG (p.Pro920HisfsTer17) c.2389_2390insATGG (p.Pro797HisfsTer17) n.2758_2759insATGG | ClinVar dbSNP |
| 13 | g.32337114C>A | CA387773657 | BRCA2 | c.2759C>A (p.Pro920His) c.2390C>A (p.Pro797His) n.2759C>A | dbSNP |
| 13 | g.32337114C= | CA2082811085 | BRCA2 | c.2759C= (p.Pro920=) c.2390C= (p.Pro797=) n.2759C= | |
| 13 | g.32337114C>G | CA387773658 | BRCA2 | c.2759C>G (p.Pro920Arg) c.2390C>G (p.Pro797Arg) n.2759C>G | ClinVar dbSNP |
| 13 | g.32337114C>T | CA387773659 | BRCA2 | c.2759C>T (p.Pro920Leu) c.2390C>T (p.Pro797Leu) n.2759C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337115C>A | CA483437347 | BRCA2 | c.2760C>A (p.Pro920=) c.2391C>A (p.Pro797=) n.2760C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337115C>G | CA483437348 | BRCA2 | c.2760C>G (p.Pro920=) c.2391C>G (p.Pro797=) n.2760C>G | dbSNP |
| 13 | g.32337115C>T | CA483437349 | BRCA2 | c.2760C>T (p.Pro920=) c.2391C>T (p.Pro797=) n.2760C>T | ClinVar dbSNP |
| 13 | g.32337116A= | CA2082811092 | BRCA2 | c.2761A= (p.Ile921=) c.2392A= (p.Ile798=) n.2761A= | |
| 13 | g.32337116A>C | CA387773660 | BRCA2 | c.2761A>C (p.Ile921Leu) c.2392A>C (p.Ile798Leu) n.2761A>C | |
| 13 | g.32337116A>G | CA387773662 | BRCA2 | c.2761A>G (p.Ile921Val) c.2392A>G (p.Ile798Val) n.2761A>G | ClinVar dbSNP |
| 13 | g.32337116A>T | CA387773661 | BRCA2 | c.2761A>T (p.Ile921Phe) c.2392A>T (p.Ile798Phe) n.2761A>T | |
| 13 | g.32337117T>A | CA387773663 | BRCA2 | c.2762T>A (p.Ile921Asn) c.2393T>A (p.Ile798Asn) n.2762T>A | dbSNP |
| 13 | g.32337117T>C | CA387773664 | BRCA2 | c.2762T>C (p.Ile921Thr) c.2393T>C (p.Ile798Thr) n.2762T>C | |
| 13 | g.32337117T>G | CA387773665 | BRCA2 | c.2762T>G (p.Ile921Ser) c.2393T>G (p.Ile798Ser) n.2762T>G | |
| 13 | g.32337120dup | CA016303 | BRCA2 | c.2765dup (p.Lys923GlnfsTer13) c.2396dup (p.Lys800GlnfsTer13) n.2765dup | ClinVar dbSNP |
| 13 | g.32337118T>A | CA483437358 | BRCA2 | c.2763T>A (p.Ile921=) c.2394T>A (p.Ile798=) n.2763T>A | dbSNP |
| 13 | g.32337118T>C | CA483437359 | BRCA2 | c.2763T>C (p.Ile921=) c.2394T>C (p.Ile798=) n.2763T>C | dbSNP |
| 13 | g.32337118T>G | CA387773666 | BRCA2 | c.2763T>G (p.Ile921Met) c.2394T>G (p.Ile798Met) n.2763T>G | |
| 13 | g.32337118_32337132delinsTTTCAAGAACTCTAC | CA2082811108 | BRCA2 | c.2763_2777delinsTTTCAAGAACTCTAC (p.Ile921=) c.2394_2408delinsTTTCAAGAACTCTAC (p.Ile798=) n.2763_2777delinsTTTCAAGAACTCTAC | |
| 13 | g.32337119T>A | CA387773667 | BRCA2 | c.2764T>A (p.Phe922Ile) c.2395T>A (p.Phe799Ile) n.2764T>A | dbSNP |
| 13 | g.32337119T>C | CA387773668 | BRCA2 | c.2764T>C (p.Phe922Leu) c.2395T>C (p.Phe799Leu) n.2764T>C | |
| 13 | g.32337119T>G | CA387773669 | BRCA2 | c.2764T>G (p.Phe922Val) c.2395T>G (p.Phe799Val) n.2764T>G | |
| 13 | g.32337119_32337132del | CA10589172 | BRCA2 | c.2764_2777del (p.Phe922HisfsTer9) c.2395_2408del (p.Phe799HisfsTer9) n.2764_2777del | ClinVar dbSNP |
| 13 | g.32337120T>A | CA387773670 | BRCA2 | c.2765T>A (p.Phe922Tyr) c.2396T>A (p.Phe799Tyr) n.2765T>A | dbSNP |
| 13 | g.32337120T>C | CA387773671 | BRCA2 | c.2765T>C (p.Phe922Ser) c.2396T>C (p.Phe799Ser) n.2765T>C | dbSNP |
| 13 | g.32337120T>G | CA387773672 | BRCA2 | c.2765T>G (p.Phe922Cys) c.2396T>G (p.Phe799Cys) n.2765T>G | ClinVar dbSNP |
| 13 | g.32337120T= | CA2082811125 | BRCA2 | c.2765T= (p.Phe922=) c.2396T= (p.Phe799=) n.2765T= | |
| 13 | g.32337121C>A | CA6940628 | BRCA2 | c.2766C>A (p.Phe922Leu) c.2397C>A (p.Phe799Leu) n.2766C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337121C= | CA2082811137 | BRCA2 | c.2766C= (p.Phe922=) c.2397C= (p.Phe799=) n.2766C= | |
| 13 | g.32337121C>G | CA387773673 | BRCA2 | c.2766C>G (p.Phe922Leu) c.2397C>G (p.Phe799Leu) n.2766C>G | dbSNP |
| 13 | g.32337121C>T | CA483437370 | BRCA2 | c.2766C>T (p.Phe922=) c.2397C>T (p.Phe799=) n.2766C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337122A= | CA2082811146 | BRCA2 | c.2767A= (p.Lys923=) c.2398A= (p.Lys800=) n.2767A= | |
| 13 | g.32337122A>C | CA387773674 | BRCA2 | c.2767A>C (p.Lys923Gln) c.2398A>C (p.Lys800Gln) n.2767A>C | |
| 13 | g.32337122A>G | CA387773675 | BRCA2 | c.2767A>G (p.Lys923Glu) c.2398A>G (p.Lys800Glu) n.2767A>G | ClinVar dbSNP |
| 13 | g.32337122A>T | CA387773676 | BRCA2 | c.2767A>T (p.Lys923Ter) c.2398A>T (p.Lys800Ter) n.2767A>T | dbSNP |
| 13 | g.32337123A= | CA2082811148 | BRCA2 | c.2768A= (p.Lys923=) c.2399A= (p.Lys800=) n.2768A= | |
| 13 | g.32337123A>C | CA387773677 | BRCA2 | c.2768A>C (p.Lys923Thr) c.2399A>C (p.Lys800Thr) n.2768A>C | |
| 13 | g.32337123A>G | CA387773678 | BRCA2 | c.2768A>G (p.Lys923Arg) c.2399A>G (p.Lys800Arg) n.2768A>G | ClinVar dbSNP |
| 13 | g.32337123A>T | CA387773679 | BRCA2 | c.2768A>T (p.Lys923Met) c.2399A>T (p.Lys800Met) n.2768A>T | dbSNP |
| 13 | g.32337124G>A | CA483437375 | BRCA2 | c.2769G>A (p.Lys923=) c.2400G>A (p.Lys800=) n.2769G>A | dbSNP |
| 13 | g.32337124G>C | CA387773681 | BRCA2 | c.2769G>C (p.Lys923Asn) c.2400G>C (p.Lys800Asn) n.2769G>C | dbSNP |
| 13 | g.32337124G>T | CA387773680 | BRCA2 | c.2769G>T (p.Lys923Asn) c.2400G>T (p.Lys800Asn) n.2769G>T | ClinVar dbSNP |
| 13 | g.32337125A>C | CA387773682 | BRCA2 | c.2770A>C (p.Asn924His) c.2401A>C (p.Asn801His) n.2770A>C | dbSNP |
| 13 | g.32337125A>G | CA387773683 | BRCA2 | c.2770A>G (p.Asn924Asp) c.2401A>G (p.Asn801Asp) n.2770A>G | dbSNP |
| 13 | g.32337125A>T | CA387773684 | BRCA2 | c.2770A>T (p.Asn924Tyr) c.2401A>T (p.Asn801Tyr) n.2770A>T | dbSNP |
| 13 | g.32337126A= | CA2082811157 | BRCA2 | c.2771A= (p.Asn924=) c.2402A= (p.Asn801=) n.2771A= | |
| 13 | g.32337126A>C | CA387773685 | BRCA2 | c.2771A>C (p.Asn924Thr) c.2402A>C (p.Asn801Thr) n.2771A>C | |
| 13 | g.32337126A>G | CA387773686 | BRCA2 | c.2771A>G (p.Asn924Ser) c.2402A>G (p.Asn801Ser) n.2771A>G | |
| 13 | g.32337126A>T | CA016313 | BRCA2 | c.2771A>T (p.Asn924Ile) c.2402A>T (p.Asn801Ile) n.2771A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337126_32337128delinsACT | CA2082811163 | BRCA2 | c.2771_2773delinsACT (p.Asn924=) c.2402_2404delinsACT (p.Asn801=) n.2771_2773delinsACT | |
| 13 | g.32337127C>A | CA387773687 | BRCA2 | c.2772C>A (p.Asn924Lys) c.2403C>A (p.Asn801Lys) n.2772C>A | dbSNP |
| 13 | g.32337127C= | CA2082811174 | BRCA2 | c.2772C= (p.Asn924=) c.2403C= (p.Asn801=) n.2772C= | |
| 13 | g.32337127C>G | CA387773688 | BRCA2 | c.2772C>G (p.Asn924Lys) c.2403C>G (p.Asn801Lys) n.2772C>G | dbSNP |
| 13 | g.32337127C>T | CA10579551 | BRCA2 | c.2772C>T (p.Asn924=) c.2403C>T (p.Asn801=) n.2772C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337127_32337130del | CA2580087298 | BRCA2 | c.2772_2775del (p.Asn924LysfsTer?) c.2403_2406del (p.Asn801LysfsTer?) n.2772_2775del | ClinVar |
| 13 | g.32337127_32337130delinsCTCT | CA2082811179 | BRCA2 | c.2772_2775delinsCTCT (p.Asn924=) c.2403_2406delinsCTCT (p.Asn801=) n.2772_2775delinsCTCT | |
| 13 | g.32337129_32337130del | CA016331 | BRCA2 | c.2774_2775del (p.Ser925TyrfsTer10) c.2405_2406del (p.Ser802TyrfsTer10) n.2774_2775del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337128T>A | CA387773689 | BRCA2 | c.2773T>A (p.Ser925Thr) c.2404T>A (p.Ser802Thr) n.2773T>A | dbSNP |
| 13 | g.32337128T>C | CA387773690 | BRCA2 | c.2773T>C (p.Ser925Pro) c.2404T>C (p.Ser802Pro) n.2773T>C | ClinVar dbSNP |
| 13 | g.32337128T>G | CA387773691 | BRCA2 | c.2773T>G (p.Ser925Ala) c.2404T>G (p.Ser802Ala) n.2773T>G | |
| 13 | g.32337128T= | CA2082811194 | BRCA2 | c.2773T= (p.Ser925=) c.2404T= (p.Ser802=) n.2773T= | |
| 13 | g.32337128dup | CA016320 | BRCA2 | c.2773dup (p.Ser925PhefsTer11) c.2404dup (p.Ser802PhefsTer11) n.2773dup | ClinVar dbSNP |
| 13 | g.32337128_32337130delinsGA | CA1139663125 | BRCA2 | c.2773_2775delinsGA (p.Ser925GlufsTer?) c.2404_2406delinsGA (p.Ser802GlufsTer?) n.2773_2775delinsGA | ClinVar dbSNP |
| 13 | g.32337129C>A | CA387773692 | BRCA2 | c.2774C>A (p.Ser925Tyr) c.2405C>A (p.Ser802Tyr) n.2774C>A | dbSNP |
| 13 | g.32337129C= | CA2082811206 | BRCA2 | c.2774C= (p.Ser925=) c.2405C= (p.Ser802=) n.2774C= | |
| 13 | g.32337129C>G | CA10586062 | BRCA2 | c.2774C>G (p.Ser925Cys) c.2405C>G (p.Ser802Cys) n.2774C>G | ClinVar dbSNP |
| 13 | g.32337129C>T | CA387773693 | BRCA2 | c.2774C>T (p.Ser925Phe) c.2405C>T (p.Ser802Phe) n.2774C>T | dbSNP |
| 13 | g.32337129_32337130delinsCT | CA2082811217 | BRCA2 | c.2774_2775delinsCT (p.Ser925=) c.2405_2406delinsCT (p.Ser802=) n.2774_2775delinsCT | |
| 13 | g.32337129_32337134delinsCTACCA | CA2082811223 | BRCA2 | c.2774_2779delinsCTACCA (p.Ser925=) c.2405_2410delinsCTACCA (p.Ser802=) n.2774_2779delinsCTACCA | |
| 13 | g.32337130del | CA16619677 | BRCA2 | c.2775del (p.Thr926ProfsTer?) c.2406del (p.Thr803ProfsTer?) n.2775del | ClinVar dbSNP |
| 13 | g.32337130T>A | CA483437390 | BRCA2 | c.2775T>A (p.Ser925=) c.2406T>A (p.Ser802=) n.2775T>A | dbSNP |
| 13 | g.32337130T>C | CA6940629 | BRCA2 | c.2775T>C (p.Ser925=) c.2406T>C (p.Ser802=) n.2775T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337130T>G | CA483437392 | BRCA2 | c.2775T>G (p.Ser925=) c.2406T>G (p.Ser802=) n.2775T>G | |
| 13 | g.32337130T= | CA2082811242 | BRCA2 | c.2775T= (p.Ser925=) c.2406T= (p.Ser802=) n.2775T= | |
| 13 | g.32337130dup | CA10589173 | BRCA2 | c.2775dup (p.Thr926TyrfsTer10) c.2406dup (p.Thr803TyrfsTer10) n.2775dup | ClinVar dbSNP |
| 13 | g.32337131_32337135del | CA915948441 | BRCA2 | c.2776_2780del (p.Thr926GlyfsTer8) c.2407_2411del (p.Thr803GlyfsTer8) n.2776_2780del | ClinVar dbSNP |
| 13 | g.32337131del | CA645573215 | BRCA2 | c.2776del (p.Thr926ProfsTer?) c.2407del (p.Thr803ProfsTer?) n.2776del | COSMIC COSMIC |
| 13 | g.32337131A>C | CA387773694 | BRCA2 | c.2776A>C (p.Thr926Pro) c.2407A>C (p.Thr803Pro) n.2776A>C | |
| 13 | g.32337131A>G | CA387773695 | BRCA2 | c.2776A>G (p.Thr926Ala) c.2407A>G (p.Thr803Ala) n.2776A>G | ClinVar |
| 13 | g.32337131A>T | CA387773696 | BRCA2 | c.2776A>T (p.Thr926Ser) c.2407A>T (p.Thr803Ser) n.2776A>T | |
| 13 | g.32337131_32337133delinsACC | CA2082811249 | BRCA2 | c.2776_2778delinsACC (p.Thr926=) c.2407_2409delinsACC (p.Thr803=) n.2776_2778delinsACC | |
| 13 | g.32337132C>A | CA387773699 | BRCA2 | c.2777C>A (p.Thr926Asn) c.2408C>A (p.Thr803Asn) n.2777C>A | ClinVar dbSNP |
| 13 | g.32337132C= | CA2082811256 | BRCA2 | c.2777C= (p.Thr926=) c.2408C= (p.Thr803=) n.2777C= | |
| 13 | g.32337132C>G | CA387773697 | BRCA2 | c.2777C>G (p.Thr926Ser) c.2408C>G (p.Thr803Ser) n.2777C>G | dbSNP |
| 13 | g.32337132C>T | CA387773698 | BRCA2 | c.2777C>T (p.Thr926Ile) c.2408C>T (p.Thr803Ile) n.2777C>T | ClinVar dbSNP |
| 13 | g.32337132_32337133del | CA919242600 | BRCA2 | c.2777_2778del (p.Thr926AsnfsTer9) c.2408_2409del (p.Thr803AsnfsTer9) n.2777_2778del | dbSNP |
| 13 | g.32337132_32337137delinsCCATGG | CA2082811253 | BRCA2 | c.2777_2782delinsCCATGG (p.Thr926=) c.2408_2413delinsCCATGG (p.Thr803=) n.2777_2782delinsCCATGG | |
| 13 | g.32337133C>A | CA483437396 | BRCA2 | c.2778C>A (p.Thr926=) c.2409C>A (p.Thr803=) n.2778C>A | dbSNP |
| 13 | g.32337133C>G | CA483437397 | BRCA2 | c.2778C>G (p.Thr926=) c.2409C>G (p.Thr803=) n.2778C>G | dbSNP |
| 13 | g.32337133C>T | CA483437398 | BRCA2 | c.2778C>T (p.Thr926=) c.2409C>T (p.Thr803=) n.2778C>T | ClinVar dbSNP |
| 13 | g.32337134A= | CA2082811261 | BRCA2 | c.2779A= (p.Met927=) c.2410A= (p.Met804=) n.2779A= | |
| 13 | g.32337134A>C | CA387773700 | BRCA2 | c.2779A>C (p.Met927Leu) c.2410A>C (p.Met804Leu) n.2779A>C | |
| 13 | g.32337134A>G | CA016339 | BRCA2 | c.2779A>G (p.Met927Val) c.2410A>G (p.Met804Val) n.2779A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337134A>T | CA387773701 | BRCA2 | c.2779A>T (p.Met927Leu) c.2410A>T (p.Met804Leu) n.2779A>T | |
| 13 | g.32337134_32337139delinsATGGTT | CA2082811265 | BRCA2 | c.2779_2784delinsATGGTT (p.Met927=) c.2410_2415delinsATGGTT (p.Met804=) n.2779_2784delinsATGGTT | |
| 13 | g.32337135del | CA2499222115 | BRCA2 | c.2780del (p.Met927ArgfsTer?) c.2411del (p.Met804ArgfsTer?) n.2780del | |
| 13 | g.32337135T>A | CA387773702 | BRCA2 | c.2780T>A (p.Met927Lys) c.2411T>A (p.Met804Lys) n.2780T>A | |
| 13 | g.32337135T>C | CA387773703 | BRCA2 | c.2780T>C (p.Met927Thr) c.2411T>C (p.Met804Thr) n.2780T>C | ClinVar gnomAD v4 |
| 13 | g.32337135T>G | CA387773704 | BRCA2 | c.2780T>G (p.Met927Arg) c.2411T>G (p.Met804Arg) n.2780T>G | |
| 13 | g.32337136_32337140del | CA10589174 | BRCA2 | c.2781_2785del (p.Met927IlefsTer7) c.2412_2416del (p.Met804IlefsTer7) n.2781_2785del | ClinVar dbSNP |
| 13 | g.32337136G>A | CA387773705 | BRCA2 | c.2781G>A (p.Met927Ile) c.2412G>A (p.Met804Ile) n.2781G>A | dbSNP |
| 13 | g.32337136G>C | CA387773706 | BRCA2 | c.2781G>C (p.Met927Ile) c.2412G>C (p.Met804Ile) n.2781G>C | dbSNP |
| 13 | g.32337136G>T | CA387773707 | BRCA2 | c.2781G>T (p.Met927Ile) c.2412G>T (p.Met804Ile) n.2781G>T | dbSNP gnomAD v4 |
| 13 | g.32337137G>A | CA387773708 | BRCA2 | c.2782G>A (p.Val928Ile) c.2413G>A (p.Val805Ile) n.2782G>A | ClinVar dbSNP |
| 13 | g.32337137G>C | CA387773709 | BRCA2 | c.2782G>C (p.Val928Leu) c.2413G>C (p.Val805Leu) n.2782G>C | |
| 13 | g.32337137G= | CA2082811289 | BRCA2 | c.2782G= (p.Val928=) c.2413G= (p.Val805=) n.2782G= | |
| 13 | g.32337137G>T | CA387773710 | BRCA2 | c.2782G>T (p.Val928Phe) c.2413G>T (p.Val805Phe) n.2782G>T | ClinVar |
| 13 | g.32337137_32337138delinsGT | CA2082811290 | BRCA2 | c.2782_2783delinsGT (p.Val928=) c.2413_2414delinsGT (p.Val805=) n.2782_2783delinsGT | |
| 13 | g.32337138T>A | CA387773711 | BRCA2 | c.2783T>A (p.Val928Asp) c.2414T>A (p.Val805Asp) n.2783T>A | dbSNP |
| 13 | g.32337138T>C | CA387773712 | BRCA2 | c.2783T>C (p.Val928Ala) c.2414T>C (p.Val805Ala) n.2783T>C | ClinVar dbSNP |
| 13 | g.32337138T>G | CA387773713 | BRCA2 | c.2783T>G (p.Val928Gly) c.2414T>G (p.Val805Gly) n.2783T>G | |
| 13 | g.32337141dup | CA016347 | BRCA2 | c.2786dup (p.Leu929PhefsTer7) c.2417dup (p.Leu806PhefsTer7) n.2786dup | ClinVar dbSNP |
| 13 | g.32337138_32337141dup | CA645573217 | BRCA2 | c.2783_2786dup (p.Leu929PhefsTer8) c.2414_2417dup (p.Leu806PhefsTer8) n.2783_2786dup | COSMIC COSMIC |
| 13 | g.32337141del | CA016352 | BRCA2 | c.2786del (p.Leu929TyrfsTer?) c.2417del (p.Leu806TyrfsTer?) n.2786del | ClinVar dbSNP |
| 13 | g.32337139T>A | CA483437407 | BRCA2 | c.2784T>A (p.Val928=) c.2415T>A (p.Val805=) n.2784T>A | ClinVar dbSNP |
| 13 | g.32337139T>C | CA483437408 | BRCA2 | c.2784T>C (p.Val928=) c.2415T>C (p.Val805=) n.2784T>C | |
| 13 | g.32337139T>G | CA483437411 | BRCA2 | c.2784T>G (p.Val928=) c.2415T>G (p.Val805=) n.2784T>G | dbSNP |
| 13 | g.32337140T>A | CA387773714 | BRCA2 | c.2785T>A (p.Leu929Ile) c.2416T>A (p.Leu806Ile) n.2785T>A | dbSNP |
| 13 | g.32337140T>C | CA483437412 | BRCA2 | c.2785T>C (p.Leu929=) c.2416T>C (p.Leu806=) n.2785T>C | dbSNP |
| 13 | g.32337140T>G | CA387773715 | BRCA2 | c.2785T>G (p.Leu929Val) c.2416T>G (p.Leu806Val) n.2785T>G | |
| 13 | g.32337141T>A | CA387773717 | BRCA2 | c.2786T>A (p.Leu929Ter) c.2417T>A (p.Leu806Ter) n.2786T>A | dbSNP |
| 13 | g.32337141T>C | CA016363 | BRCA2 | c.2786T>C (p.Leu929Ser) c.2417T>C (p.Leu806Ser) n.2786T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337141T>G | CA387773716 | BRCA2 | c.2786T>G (p.Leu929Ter) c.2417T>G (p.Leu806Ter) n.2786T>G | ClinVar dbSNP |
| 13 | g.32337141T= | CA2082811306 | BRCA2 | c.2786T= (p.Leu929=) c.2417T= (p.Leu806=) n.2786T= | |
| 13 | g.32337142A= | CA2082811320 | BRCA2 | c.2787A= (p.Leu929=) c.2418A= (p.Leu806=) n.2787A= | |
| 13 | g.32337142A>C | CA387773718 | BRCA2 | c.2787A>C (p.Leu929Phe) c.2418A>C (p.Leu806Phe) n.2787A>C | |
| 13 | g.32337142A>G | CA483437414 | BRCA2 | c.2787A>G (p.Leu929=) c.2418A>G (p.Leu806=) n.2787A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337142A>T | CA10583084 | BRCA2 | c.2787A>T (p.Leu929Phe) c.2418A>T (p.Leu806Phe) n.2787A>T | ClinVar dbSNP |
| 13 | g.32337142dup | CA2499222116 | BRCA2 | c.2787dup (p.Tyr930IlefsTer6) c.2418dup (p.Tyr807IlefsTer6) n.2787dup | |
| 13 | g.32337143T>A | CA387773719 | BRCA2 | c.2788T>A (p.Tyr930Asn) c.2419T>A (p.Tyr807Asn) n.2788T>A | dbSNP |
| 13 | g.32337143T>C | CA387773720 | BRCA2 | c.2788T>C (p.Tyr930His) c.2419T>C (p.Tyr807His) n.2788T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337143T>G | CA387773721 | BRCA2 | c.2788T>G (p.Tyr930Asp) c.2419T>G (p.Tyr807Asp) n.2788T>G | ClinVar dbSNP |
| 13 | g.32337143T= | CA2082811329 | BRCA2 | c.2788T= (p.Tyr930=) c.2419T= (p.Tyr807=) n.2788T= | |
| 13 | g.32337144A= | CA2082811339 | BRCA2 | c.2789A= (p.Tyr930=) c.2420A= (p.Tyr807=) n.2789A= | |
| 13 | g.32337144A>C | CA387773722 | BRCA2 | c.2789A>C (p.Tyr930Ser) c.2420A>C (p.Tyr807Ser) n.2789A>C | |
| 13 | g.32337144A>G | CA016368 | BRCA2 | c.2789A>G (p.Tyr930Cys) c.2420A>G (p.Tyr807Cys) n.2789A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337144A>T | CA387773723 | BRCA2 | c.2789A>T (p.Tyr930Phe) c.2420A>T (p.Tyr807Phe) n.2789A>T | |
| 13 | g.32337145T>A | CA387773724 | BRCA2 | c.2790T>A (p.Tyr930Ter) c.2421T>A (p.Tyr807Ter) n.2790T>A | |
| 13 | g.32337145T>C | CA483437417 | BRCA2 | c.2790T>C (p.Tyr930=) c.2421T>C (p.Tyr807=) n.2790T>C | |
| 13 | g.32337145T>G | CA387773725 | BRCA2 | c.2790T>G (p.Tyr930Ter) c.2421T>G (p.Tyr807Ter) n.2790T>G | ClinVar |
| 13 | g.32337146G>A | CA387773728 | BRCA2 | c.2791G>A (p.Gly931Arg) c.2422G>A (p.Gly808Arg) n.2791G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337146G>C | CA387773727 | BRCA2 | c.2791G>C (p.Gly931Arg) c.2422G>C (p.Gly808Arg) n.2791G>C | dbSNP |
| 13 | g.32337146G= | CA2082811346 | BRCA2 | c.2791G= (p.Gly931=) c.2422G= (p.Gly808=) n.2791G= | |
| 13 | g.32337146G>T | CA387773726 | BRCA2 | c.2791G>T (p.Gly931Ter) c.2422G>T (p.Gly808Ter) n.2791G>T | dbSNP |
| 13 | g.32337147G>A | CA016375 | BRCA2 | c.2792G>A (p.Gly931Glu) c.2423G>A (p.Gly808Glu) n.2792G>A | ClinVar dbSNP |
| 13 | g.32337147G>C | CA387773729 | BRCA2 | c.2792G>C (p.Gly931Ala) c.2423G>C (p.Gly808Ala) n.2792G>C | ClinVar dbSNP |
| 13 | g.32337147G= | CA2082811357 | BRCA2 | c.2792G= (p.Gly931=) c.2423G= (p.Gly808=) n.2792G= | |
| 13 | g.32337147G>T | CA387773730 | BRCA2 | c.2792G>T (p.Gly931Val) c.2423G>T (p.Gly808Val) n.2792G>T | |
| 13 | g.32337148A= | CA2082811369 | BRCA2 | c.2793A= (p.Gly931=) c.2424A= (p.Gly808=) n.2793A= | |
| 13 | g.32337148A>C | CA483437420 | BRCA2 | c.2793A>C (p.Gly931=) c.2424A>C (p.Gly808=) n.2793A>C | ClinVar dbSNP |
| 13 | g.32337148A>G | CA016378 | BRCA2 | c.2793A>G (p.Gly931=) c.2424A>G (p.Gly808=) n.2793A>G | ClinVar dbSNP |
| 13 | g.32337148A>T | CA483437421 | BRCA2 | c.2793A>T (p.Gly931=) c.2424A>T (p.Gly808=) n.2793A>T | ClinVar dbSNP |
| 13 | g.32337149G>A | CA387773731 | BRCA2 | c.2794G>A (p.Asp932Asn) c.2425G>A (p.Asp809Asn) n.2794G>A | dbSNP |
| 13 | g.32337149G>C | CA387773732 | BRCA2 | c.2794G>C (p.Asp932His) c.2425G>C (p.Asp809His) n.2794G>C | ClinVar dbSNP |
| 13 | g.32337149G>T | CA387773733 | BRCA2 | c.2794G>T (p.Asp932Tyr) c.2425G>T (p.Asp809Tyr) n.2794G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337149_32337151delinsGAC | CA2082811387 | BRCA2 | c.2794_2796delinsGAC (p.Asp932=) c.2425_2427delinsGAC (p.Asp809=) n.2794_2796delinsGAC | |
| 13 | g.32337150A= | CA2082811401 | BRCA2 | c.2795A= (p.Asp932=) c.2426A= (p.Asp809=) n.2795A= | |
| 13 | g.32337150A>C | CA387773735 | BRCA2 | c.2795A>C (p.Asp932Ala) c.2426A>C (p.Asp809Ala) n.2795A>C | |
| 13 | g.32337150A>G | CA387773734 | BRCA2 | c.2795A>G (p.Asp932Gly) c.2426A>G (p.Asp809Gly) n.2795A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337150A>T | CA10586063 | BRCA2 | c.2795A>T (p.Asp932Val) c.2426A>T (p.Asp809Val) n.2795A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337153_32337154del | CA016382 | BRCA2 | c.2798_2799del (p.Thr933ArgfsTer2) c.2429_2430del (p.Thr810ArgfsTer2) n.2798_2799del | ClinVar dbSNP |
| 13 | g.32337151C>A | CA387773736 | BRCA2 | c.2796C>A (p.Asp932Glu) c.2427C>A (p.Asp809Glu) n.2796C>A | dbSNP |
| 13 | g.32337151C>G | CA387773737 | BRCA2 | c.2796C>G (p.Asp932Glu) c.2427C>G (p.Asp809Glu) n.2796C>G | dbSNP |
| 13 | g.32337151C>T | CA483437424 | BRCA2 | c.2796C>T (p.Asp932=) c.2427C>T (p.Asp809=) n.2796C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32337152A>C | CA387773738 | BRCA2 | c.2797A>C (p.Thr933Pro) c.2428A>C (p.Thr810Pro) n.2797A>C | dbSNP |
| 13 | g.32337152A>G | CA387773739 | BRCA2 | c.2797A>G (p.Thr933Ala) c.2428A>G (p.Thr810Ala) n.2797A>G | dbSNP |
| 13 | g.32337152A>T | CA387773740 | BRCA2 | c.2797A>T (p.Thr933Ser) c.2428A>T (p.Thr810Ser) n.2797A>T | dbSNP |
| 13 | g.32337152_32337153delinsAC | CA2082811412 | BRCA2 | c.2797_2798delinsAC (p.Thr933=) c.2428_2429delinsAC (p.Thr810=) n.2797_2798delinsAC | |
| 13 | g.32337153del | CA016395 | BRCA2 | c.2798del (p.Thr933LysfsTer27) c.2429del (p.Thr810LysfsTer27) n.2798del | ClinVar dbSNP |
| 13 | g.32337153C>A | CA387773741 | BRCA2 | c.2798C>A (p.Thr933Lys) c.2429C>A (p.Thr810Lys) n.2798C>A | ClinVar dbSNP |
| 13 | g.32337153C= | CA2082811417 | BRCA2 | c.2798C= (p.Thr933=) c.2429C= (p.Thr810=) n.2798C= | |
| 13 | g.32337153C>G | CA016389 | BRCA2 | c.2798C>G (p.Thr933Arg) c.2429C>G (p.Thr810Arg) n.2798C>G | ClinVar dbSNP |
| 13 | g.32337153C>T | CA387773742 | BRCA2 | c.2798C>T (p.Thr933Ile) c.2429C>T (p.Thr810Ile) n.2798C>T | ClinVar dbSNP |
| 13 | g.32337154A= | CA2082811428 | BRCA2 | c.2799A= (p.Thr933=) c.2430A= (p.Thr810=) n.2799A= | |
| 13 | g.32337154A>C | CA483437427 | BRCA2 | c.2799A>C (p.Thr933=) c.2430A>C (p.Thr810=) n.2799A>C | |
| 13 | g.32337154A>G | CA483437428 | BRCA2 | c.2799A>G (p.Thr933=) c.2430A>G (p.Thr810=) n.2799A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337154A>T | CA483437429 | BRCA2 | c.2799A>T (p.Thr933=) c.2430A>T (p.Thr810=) n.2799A>T | dbSNP COSMIC COSMIC |
| 13 | g.32337154_32337155del | CA2573149405 | BRCA2 | c.2799_2800del (p.Gly934Ter) c.2430_2431del (p.Gly811Ter) n.2799_2800del | ClinVar dbSNP |
| 13 | g.32337155G>A | CA387773743 | BRCA2 | c.2800G>A (p.Gly934Ser) c.2431G>A (p.Gly811Ser) n.2800G>A | ClinVar dbSNP |
| 13 | g.32337155G>C | CA387773744 | BRCA2 | c.2800G>C (p.Gly934Arg) c.2431G>C (p.Gly811Arg) n.2800G>C | |
| 13 | g.32337155G= | CA2082811435 | BRCA2 | c.2800G= (p.Gly934=) c.2431G= (p.Gly811=) n.2800G= | |
| 13 | g.32337155G>T | CA387773745 | BRCA2 | c.2800G>T (p.Gly934Cys) c.2431G>T (p.Gly811Cys) n.2800G>T | |
| 13 | g.32337156del | CA2499222117 | BRCA2 | c.2801del (p.Gly934ValfsTer26) c.2432del (p.Gly811ValfsTer26) n.2801del | ClinVar dbSNP |
| 13 | g.32337156G>A | CA387773746 | BRCA2 | c.2801G>A (p.Gly934Asp) c.2432G>A (p.Gly811Asp) n.2801G>A | dbSNP |
| 13 | g.32337156G>C | CA387773747 | BRCA2 | c.2801G>C (p.Gly934Ala) c.2432G>C (p.Gly811Ala) n.2801G>C | dbSNP |
| 13 | g.32337156G>T | CA387773748 | BRCA2 | c.2801G>T (p.Gly934Val) c.2432G>T (p.Gly811Val) n.2801G>T | dbSNP |
| 13 | g.32337156_32337157delinsGT | CA2082811443 | BRCA2 | c.2801_2802delinsGT (p.Gly934=) c.2432_2433delinsGT (p.Gly811=) n.2801_2802delinsGT | |
| 13 | g.32337157del | CA2082811451 | BRCA2 | c.2802del (p.Asp935IlefsTer25) c.2433del (p.Asp812IlefsTer25) n.2802del | ClinVar dbSNP |
| 13 | g.32337157T>A | CA483437433 | BRCA2 | c.2802T>A (p.Gly934=) c.2433T>A (p.Gly811=) n.2802T>A | dbSNP |
| 13 | g.32337157T>C | CA483437435 | BRCA2 | c.2802T>C (p.Gly934=) c.2433T>C (p.Gly811=) n.2802T>C | dbSNP |
| 13 | g.32337157T>G | CA16614125 | BRCA2 | c.2802T>G (p.Gly934=) c.2433T>G (p.Gly811=) n.2802T>G | ClinVar dbSNP |
| 13 | g.32337157T= | CA2082811449 | BRCA2 | c.2802T= (p.Gly934=) c.2433T= (p.Gly811=) n.2802T= | |
| 13 | g.32337157dup | CA2580614676 | BRCA2 | c.2802dup (p.Asp935Ter) c.2433dup (p.Asp812Ter) n.2802dup | ClinVar |
| 13 | g.32337158G>A | CA016407 | BRCA2 | c.2803G>A (p.Asp935Asn) c.2434G>A (p.Asp812Asn) n.2803G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337158G>C | CA016411 | BRCA2 | c.2803G>C (p.Asp935His) c.2434G>C (p.Asp812His) n.2803G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337158G= | CA2082811465 | BRCA2 | c.2803G= (p.Asp935=) c.2434G= (p.Asp812=) n.2803G= | |
| 13 | g.32337158G>T | CA387773749 | BRCA2 | c.2803G>T (p.Asp935Tyr) c.2434G>T (p.Asp812Tyr) n.2803G>T | ClinVar dbSNP |
| 13 | g.32337158_32337162delinsGATAA | CA2082811477 | BRCA2 | c.2803_2807delinsGATAA (p.Asp935=) c.2434_2438delinsGATAA (p.Asp812=) n.2803_2807delinsGATAA | |
| 13 | g.32337159del | CA2697551731 | BRCA2 | c.2804del (p.Asp935ValfsTer25) c.2435del (p.Asp812ValfsTer25) n.2804del | ClinVar |
| 13 | g.32337159A= | CA2082811492 | BRCA2 | c.2804A= (p.Asp935=) c.2435A= (p.Asp812=) n.2804A= | |
| 13 | g.32337159A>C | CA387773750 | BRCA2 | c.2804A>C (p.Asp935Ala) c.2435A>C (p.Asp812Ala) n.2804A>C | |
| 13 | g.32337159A>G | CA387773751 | BRCA2 | c.2804A>G (p.Asp935Gly) c.2435A>G (p.Asp812Gly) n.2804A>G | ClinVar dbSNP |
| 13 | g.32337159A>T | CA387773752 | BRCA2 | c.2804A>T (p.Asp935Val) c.2435A>T (p.Asp812Val) n.2804A>T | |
| 13 | g.32337160_32337163del | CA016418 | BRCA2 | c.2805_2808del (p.Ala938ProfsTer21) c.2436_2439del (p.Ala815ProfsTer21) n.2805_2808del | ClinVar dbSNP |
| 13 | g.32337160del | CA2622601027 | BRCA2 | c.2805del (p.Asp935GlufsTer25) c.2436del (p.Asp812GlufsTer25) n.2805del | dbSNP gnomAD v4 |
| 13 | g.32337160T>A | CA387773753 | BRCA2 | c.2805T>A (p.Asp935Glu) c.2436T>A (p.Asp812Glu) n.2805T>A | ClinVar dbSNP |
| 13 | g.32337160T>C | CA6940630 | BRCA2 | c.2805T>C (p.Asp935=) c.2436T>C (p.Asp812=) n.2805T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337160T>G | CA387773754 | BRCA2 | c.2805T>G (p.Asp935Glu) c.2436T>G (p.Asp812Glu) n.2805T>G | ClinVar dbSNP |
| 13 | g.32337160T= | CA2082811528 | BRCA2 | c.2805T= (p.Asp935=) c.2436T= (p.Asp812=) n.2805T= | |
| 13 | g.32337160_32337161delinsTA | CA2082811514 | BRCA2 | c.2805_2806delinsTA (p.Asp935=) c.2436_2437delinsTA (p.Asp812=) n.2805_2806delinsTA | |
| 13 | g.32337160_32337164delinsTAAAC | CA2082811525 | BRCA2 | c.2805_2809delinsTAAAC (p.Asp935=) c.2436_2440delinsTAAAC (p.Asp812=) n.2805_2809delinsTAAAC | |
| 13 | g.32337161A>C | CA387773757 | BRCA2 | c.2806A>C (p.Lys936Gln) c.2437A>C (p.Lys813Gln) n.2806A>C | |
| 13 | g.32337161A>G | CA387773756 | BRCA2 | c.2806A>G (p.Lys936Glu) c.2437A>G (p.Lys813Glu) n.2806A>G | dbSNP |
| 13 | g.32337161A>T | CA387773755 | BRCA2 | c.2806A>T (p.Lys936Ter) c.2437A>T (p.Lys813Ter) n.2806A>T | dbSNP |
| 13 | g.32337163dup | CA2697551732 | BRCA2 | c.2808dup (p.Gln937ThrfsTer8) c.2439dup (p.Gln814ThrfsTer8) n.2808dup | ClinVar |
| 13 | g.32337163del | CA016446 | BRCA2 | c.2808del (p.Lys936AsnfsTer24) c.2439del (p.Lys813AsnfsTer24) n.2808del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337163_32337166del | CA016424 | BRCA2 | c.2808_2811del (p.Ala938ProfsTer21) c.2439_2442del (p.Ala815ProfsTer21) n.2808_2811del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32337162A= | CA2082811555 | BRCA2 | c.2807A= (p.Lys936=) c.2438A= (p.Lys813=) n.2807A= | |
| 13 | g.32337162A>C | CA387773758 | BRCA2 | c.2807A>C (p.Lys936Thr) c.2438A>C (p.Lys813Thr) n.2807A>C | dbSNP |
| 13 | g.32337162A>G | CA016431 | BRCA2 | c.2807A>G (p.Lys936Arg) c.2438A>G (p.Lys813Arg) n.2807A>G | ClinVar dbSNP |
| 13 | g.32337162A>T | CA387773759 | BRCA2 | c.2807A>T (p.Lys936Ile) c.2438A>T (p.Lys813Ile) n.2807A>T | dbSNP |
| 13 | g.32337163A= | CA2082811567 | BRCA2 | c.2808A= (p.Lys936=) c.2439A= (p.Lys813=) n.2808A= | |
| 13 | g.32337163A>C | CA387773760 | BRCA2 | c.2808A>C (p.Lys936Asn) c.2439A>C (p.Lys813Asn) n.2808A>C | dbSNP |
| 13 | g.32337163A>G | CA483437444 | BRCA2 | c.2808A>G (p.Lys936=) c.2439A>G (p.Lys813=) n.2808A>G | ClinVar dbSNP |
| 13 | g.32337163A>T | CA387773761 | BRCA2 | c.2808A>T (p.Lys936Asn) c.2439A>T (p.Lys813Asn) n.2808A>T | dbSNP |
| 13 | g.32337163_32337167delinsACAAG | CA2082811565 | BRCA2 | c.2808_2812delinsACAAG (p.Lys936=) c.2439_2443delinsACAAG (p.Lys813=) n.2808_2812delinsACAAG | |
| 13 | g.32337164C>A | CA387773762 | BRCA2 | c.2809C>A (p.Gln937Lys) c.2440C>A (p.Gln814Lys) n.2809C>A | dbSNP COSMIC COSMIC |
| 13 | g.32337164C>G | CA387773763 | BRCA2 | c.2809C>G (p.Gln937Glu) c.2440C>G (p.Gln814Glu) n.2809C>G | dbSNP |
| 13 | g.32337164C>T | CA387773764 | BRCA2 | c.2809C>T (p.Gln937Ter) c.2440C>T (p.Gln814Ter) n.2809C>T | ClinVar dbSNP |
| 13 | g.32337164_32337166delinsCAA | CA2082811582 | BRCA2 | c.2809_2811delinsCAA (p.Gln937=) c.2440_2442delinsCAA (p.Gln814=) n.2809_2811delinsCAA | |
| 13 | g.32337167_32337170del | CA016474 | BRCA2 | c.2812_2815del (p.Ala938ProfsTer21) c.2443_2446del (p.Ala815ProfsTer21) n.2812_2815del | ClinVar dbSNP |
| 13 | g.32337165A= | CA2082811597 | BRCA2 | c.2810A= (p.Gln937=) c.2441A= (p.Gln814=) n.2810A= | |
| 13 | g.32337165A>C | CA016468 | BRCA2 | c.2810A>C (p.Gln937Pro) c.2441A>C (p.Gln814Pro) n.2810A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337165A>G | CA387773766 | BRCA2 | c.2810A>G (p.Gln937Arg) c.2441A>G (p.Gln814Arg) n.2810A>G | gnomAD v4 |
| 13 | g.32337165A>T | CA387773765 | BRCA2 | c.2810A>T (p.Gln937Leu) c.2441A>T (p.Gln814Leu) n.2810A>T | dbSNP |
| 13 | g.32337165_32337166del | CA016463 | BRCA2 | c.2810_2811del (p.Gln937ArgfsTer7) c.2441_2442del (p.Gln814ArgfsTer7) n.2810_2811del | ClinVar dbSNP |
| 13 | g.32337166A= | CA2082811603 | BRCA2 | c.2811A= (p.Gln937=) c.2442A= (p.Gln814=) n.2811A= | |
| 13 | g.32337166A>C | CA387773767 | BRCA2 | c.2811A>C (p.Gln937His) c.2442A>C (p.Gln814His) n.2811A>C | |
| 13 | g.32337166A>G | CA483437447 | BRCA2 | c.2811A>G (p.Gln937=) c.2442A>G (p.Gln814=) n.2811A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32337166A>T | CA387773768 | BRCA2 | c.2811A>T (p.Gln937His) c.2442A>T (p.Gln814His) n.2811A>T | dbSNP |
| 13 | g.32337166_32337169delinsTATATGGTG | CA501196 | BRCA2 | c.2811_2814delinsTATATGGTG (p.Gln937HisfsTer4) c.2442_2445delinsTATATGGTG (p.Gln814HisfsTer4) n.2811_2814delinsTATATGGTG | |
| 13 | g.32337167G>A | CA6940631 | BRCA2 | c.2812G>A (p.Ala938Thr) c.2443G>A (p.Ala815Thr) n.2812G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337167G>C | CA387773769 | BRCA2 | c.2812G>C (p.Ala938Pro) c.2443G>C (p.Ala815Pro) n.2812G>C | |
| 13 | g.32337167G= | CA2082811613 | BRCA2 | c.2812G= (p.Ala938=) c.2443G= (p.Ala815=) n.2812G= | |
| 13 | g.32337167G>T | CA387773770 | BRCA2 | c.2812G>T (p.Ala938Ser) c.2443G>T (p.Ala815Ser) n.2812G>T | |
| 13 | g.32337168del | CA2580087299 | BRCA2 | c.2813del (p.Ala938GlufsTer22) c.2444del (p.Ala815GlufsTer22) n.2813del | ClinVar |
| 13 | g.32337168C>A | CA016486 | BRCA2 | c.2813C>A (p.Ala938Glu) c.2444C>A (p.Ala815Glu) n.2813C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337168C= | CA2082811620 | BRCA2 | c.2813C= (p.Ala938=) c.2444C= (p.Ala815=) n.2813C= | |
| 13 | g.32337168C>G | CA387773772 | BRCA2 | c.2813C>G (p.Ala938Gly) c.2444C>G (p.Ala815Gly) n.2813C>G | dbSNP |
| 13 | g.32337168C>T | CA387773771 | BRCA2 | c.2813C>T (p.Ala938Val) c.2444C>T (p.Ala815Val) n.2813C>T | dbSNP gnomAD v4 |
| 13 | g.32337169A= | CA2082811629 | BRCA2 | c.2814A= (p.Ala938=) c.2445A= (p.Ala815=) n.2814A= | |
| 13 | g.32337169A>C | CA483437451 | BRCA2 | c.2814A>C (p.Ala938=) c.2445A>C (p.Ala815=) n.2814A>C | dbSNP |
| 13 | g.32337169A>G | CA483437452 | BRCA2 | c.2814A>G (p.Ala938=) c.2445A>G (p.Ala815=) n.2814A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337169A>T | CA483437453 | BRCA2 | c.2814A>T (p.Ala938=) c.2445A>T (p.Ala815=) n.2814A>T | dbSNP |
| 13 | g.32337170A= | CA2082811635 | BRCA2 | c.2815A= (p.Thr939=) c.2446A= (p.Thr816=) n.2815A= | |
| 13 | g.32337170A>C | CA387773773 | BRCA2 | c.2815A>C (p.Thr939Pro) c.2446A>C (p.Thr816Pro) n.2815A>C | |
| 13 | g.32337170A>G | CA387773774 | BRCA2 | c.2815A>G (p.Thr939Ala) c.2446A>G (p.Thr816Ala) n.2815A>G | ClinVar dbSNP |
| 13 | g.32337170A>T | CA387773775 | BRCA2 | c.2815A>T (p.Thr939Ser) c.2446A>T (p.Thr816Ser) n.2815A>T | COSMIC COSMIC |
| 13 | g.32337171C>A | CA387773776 | BRCA2 | c.2816C>A (p.Thr939Asn) c.2447C>A (p.Thr816Asn) n.2816C>A | dbSNP gnomAD v4 |
| 13 | g.32337171C= | CA2082811643 | BRCA2 | c.2816C= (p.Thr939=) c.2447C= (p.Thr816=) n.2816C= | |
| 13 | g.32337171C>G | CA387773777 | BRCA2 | c.2816C>G (p.Thr939Ser) c.2447C>G (p.Thr816Ser) n.2816C>G | ClinVar dbSNP |
| 13 | g.32337171C>T | CA387773778 | BRCA2 | c.2816C>T (p.Thr939Ile) c.2447C>T (p.Thr816Ile) n.2816C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337172C>A | CA483437457 | BRCA2 | c.2817C>A (p.Thr939=) c.2448C>A (p.Thr816=) n.2817C>A | |
| 13 | g.32337172C= | CA2082811646 | BRCA2 | c.2817C= (p.Thr939=) c.2448C= (p.Thr816=) n.2817C= | |
| 13 | g.32337172C>G | CA483437459 | BRCA2 | c.2817C>G (p.Thr939=) c.2448C>G (p.Thr816=) n.2817C>G | ClinVar dbSNP |
| 13 | g.32337172C>T | CA016494 | BRCA2 | c.2817C>T (p.Thr939=) c.2448C>T (p.Thr816=) n.2817C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337173C>A | CA387773779 | BRCA2 | c.2818C>A (p.Gln940Lys) c.2449C>A (p.Gln817Lys) n.2818C>A | dbSNP gnomAD v4 |
| 13 | g.32337173C= | CA2082811660 | BRCA2 | c.2818C= (p.Gln940=) c.2449C= (p.Gln817=) n.2818C= | |
| 13 | g.32337173C>G | CA387773780 | BRCA2 | c.2818C>G (p.Gln940Glu) c.2449C>G (p.Gln817Glu) n.2818C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337173C>T | CA016502 | BRCA2 | c.2818C>T (p.Gln940Ter) c.2449C>T (p.Gln817Ter) n.2818C>T | ClinVar dbSNP |
| 13 | g.32337174A= | CA2082811675 | BRCA2 | c.2819A= (p.Gln940=) c.2450A= (p.Gln817=) n.2819A= | |
| 13 | g.32337174A>C | CA387773783 | BRCA2 | c.2819A>C (p.Gln940Pro) c.2450A>C (p.Gln817Pro) n.2819A>C | |
| 13 | g.32337174A>G | CA16606666 | BRCA2 | c.2819A>G (p.Gln940Arg) c.2450A>G (p.Gln817Arg) n.2819A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337174A>T | CA387773785 | BRCA2 | c.2819A>T (p.Gln940Leu) c.2450A>T (p.Gln817Leu) n.2819A>T | dbSNP |
| 13 | g.32337175del | CA2499222118 | BRCA2 | c.2820del (p.Val941CysfsTer19) c.2451del (p.Val818CysfsTer19) n.2820del | |
| 13 | g.32337175A= | CA2082811686 | BRCA2 | c.2820A= (p.Gln940=) c.2451A= (p.Gln817=) n.2820A= | |
| 13 | g.32337175A>C | CA387773787 | BRCA2 | c.2820A>C (p.Gln940His) c.2451A>C (p.Gln817His) n.2820A>C | |
| 13 | g.32337175A>G | CA6940632 | BRCA2 | c.2820A>G (p.Gln940=) c.2451A>G (p.Gln817=) n.2820A>G | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.32337175A>T | CA387773789 | BRCA2 | c.2820A>T (p.Gln940His) c.2451A>T (p.Gln817His) n.2820A>T | |
| 13 | g.32337176G>A | CA338696 | BRCA2 | c.2821G>A (p.Val941Met) c.2452G>A (p.Val818Met) n.2821G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337176G>C | CA387773793 | BRCA2 | c.2821G>C (p.Val941Leu) c.2452G>C (p.Val818Leu) n.2821G>C | ClinVar dbSNP |
| 13 | g.32337176G= | CA2082811707 | BRCA2 | c.2821G= (p.Val941=) c.2452G= (p.Val818=) n.2821G= | |
| 13 | g.32337176G>T | CA387773795 | BRCA2 | c.2821G>T (p.Val941Leu) c.2452G>T (p.Val818Leu) n.2821G>T | |
| 13 | g.32337177T>A | CA387773798 | BRCA2 | c.2822T>A (p.Val941Glu) c.2453T>A (p.Val818Glu) n.2822T>A | dbSNP |
| 13 | g.32337177T>C | CA387773801 | BRCA2 | c.2822T>C (p.Val941Ala) c.2453T>C (p.Val818Ala) n.2822T>C | |
| 13 | g.32337177T>G | CA016510 | BRCA2 | c.2822T>G (p.Val941Gly) c.2453T>G (p.Val818Gly) n.2822T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337177T= | CA2082811720 | BRCA2 | c.2822T= (p.Val941=) c.2453T= (p.Val818=) n.2822T= | |
| 13 | g.32337177_32337178delinsTG | CA2082811724 | BRCA2 | c.2822_2823delinsTG (p.Val941=) c.2453_2454delinsTG (p.Val818=) n.2822_2823delinsTG | |
| 13 | g.32337178del | CA919242603 | BRCA2 | c.2823del (p.Ser942GlnfsTer18) c.2454del (p.Ser819GlnfsTer18) n.2823del | ClinVar dbSNP |
| 13 | g.32337178G>A | CA10579552 | BRCA2 | c.2823G>A (p.Val941=) c.2454G>A (p.Val818=) n.2823G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337178G>C | CA483437464 | BRCA2 | c.2823G>C (p.Val941=) c.2454G>C (p.Val818=) n.2823G>C | dbSNP COSMIC COSMIC |
| 13 | g.32337178G= | CA2082811728 | BRCA2 | c.2823G= (p.Val941=) c.2454G= (p.Val818=) n.2823G= | |
| 13 | g.32337178G>T | CA483437465 | BRCA2 | c.2823G>T (p.Val941=) c.2454G>T (p.Val818=) n.2823G>T | |
| 13 | g.32337179T>A | CA387773804 | BRCA2 | c.2824T>A (p.Ser942Thr) c.2455T>A (p.Ser819Thr) n.2824T>A | dbSNP |
| 13 | g.32337179T>C | CA387773807 | BRCA2 | c.2824T>C (p.Ser942Pro) c.2455T>C (p.Ser819Pro) n.2824T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337179T>G | CA387773808 | BRCA2 | c.2824T>G (p.Ser942Ala) c.2455T>G (p.Ser819Ala) n.2824T>G | dbSNP |
| 13 | g.32337180C>A | CA387773815 | BRCA2 | c.2825C>A (p.Ser942Ter) c.2456C>A (p.Ser819Ter) n.2825C>A | dbSNP |
| 13 | g.32337180C= | CA2082811732 | BRCA2 | c.2825C= (p.Ser942=) c.2456C= (p.Ser819=) n.2825C= | |
| 13 | g.32337180C>G | CA387773813 | BRCA2 | c.2825C>G (p.Ser942Ter) c.2456C>G (p.Ser819Ter) n.2825C>G | dbSNP |
| 13 | g.32337180C>T | CA387773810 | BRCA2 | c.2825C>T (p.Ser942Leu) c.2456C>T (p.Ser819Leu) n.2825C>T | dbSNP |
| 13 | g.32337180_32337184delinsCAATT | CA2082811730 | BRCA2 | c.2825_2829delinsCAATT (p.Ser942=) c.2456_2460delinsCAATT (p.Ser819=) n.2825_2829delinsCAATT | |
| 13 | g.32337181A= | CA2082811753 | BRCA2 | c.2826A= (p.Ser942=) c.2457A= (p.Ser819=) n.2826A= | |
| 13 | g.32337181A>C | CA483437467 | BRCA2 | c.2826A>C (p.Ser942=) c.2457A>C (p.Ser819=) n.2826A>C | ClinVar dbSNP |
| 13 | g.32337181A>G | CA483437469 | BRCA2 | c.2826A>G (p.Ser942=) c.2457A>G (p.Ser819=) n.2826A>G | ClinVar dbSNP |
| 13 | g.32337181A>T | CA483437470 | BRCA2 | c.2826A>T (p.Ser942=) c.2457A>T (p.Ser819=) n.2826A>T | dbSNP |
| 13 | g.32337183_32337186del | CA016521 | BRCA2 | c.2828_2831del (p.Ile943LysfsTer16) c.2459_2462del (p.Ile820LysfsTer16) n.2828_2831del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337182A= | CA2082811759 | BRCA2 | c.2827A= (p.Ile943=) c.2458A= (p.Ile820=) n.2827A= | |
| 13 | g.32337182A>C | CA387773821 | BRCA2 | c.2827A>C (p.Ile943Leu) c.2458A>C (p.Ile820Leu) n.2827A>C | |
| 13 | g.32337182A>G | CA016516 | BRCA2 | c.2827A>G (p.Ile943Val) c.2458A>G (p.Ile820Val) n.2827A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337182A>T | CA387773819 | BRCA2 | c.2827A>T (p.Ile943Phe) c.2458A>T (p.Ile820Phe) n.2827A>T | |
| 13 | g.32337183T>A | CA387773823 | BRCA2 | c.2828T>A (p.Ile943Asn) c.2459T>A (p.Ile820Asn) n.2828T>A | dbSNP |
| 13 | g.32337183T>C | CA387773825 | BRCA2 | c.2828T>C (p.Ile943Thr) c.2459T>C (p.Ile820Thr) n.2828T>C | ClinVar dbSNP |
| 13 | g.32337183T>G | CA387773828 | BRCA2 | c.2828T>G (p.Ile943Ser) c.2459T>G (p.Ile820Ser) n.2828T>G | |
| 13 | g.32337184T>A | CA483437476 | BRCA2 | c.2829T>A (p.Ile943=) c.2460T>A (p.Ile820=) n.2829T>A | |
| 13 | g.32337184T>C | CA483437477 | BRCA2 | c.2829T>C (p.Ile943=) c.2460T>C (p.Ile820=) n.2829T>C | |
| 13 | g.32337184T>G | CA387773830 | BRCA2 | c.2829T>G (p.Ile943Met) c.2460T>G (p.Ile820Met) n.2829T>G | |
| 13 | g.32337184_32337187delinsTAAA | CA2082811765 | BRCA2 | c.2829_2832delinsTAAA (p.Ile943=) c.2460_2463delinsTAAA (p.Ile820=) n.2829_2832delinsTAAA | |
| 13 | g.32337185A= | CA2082811794 | BRCA2 | c.2830A= (p.Lys944=) c.2461A= (p.Lys821=) n.2830A= | |
| 13 | g.32337185A>C | CA387773838 | BRCA2 | c.2830A>C (p.Lys944Gln) c.2461A>C (p.Lys821Gln) n.2830A>C | |
| 13 | g.32337185A>G | CA387773836 | BRCA2 | c.2830A>G (p.Lys944Glu) c.2461A>G (p.Lys821Glu) n.2830A>G | |
| 13 | g.32337185A>T | CA016531 | BRCA2 | c.2830A>T (p.Lys944Ter) c.2461A>T (p.Lys821Ter) n.2830A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32337190dup | CA10579553 | BRCA2 | c.2835dup (p.Asp946ArgfsTer13) c.2466dup (p.Asp823ArgfsTer13) n.2835dup | ClinVar dbSNP |
| 13 | g.32337190del | CA016557 | BRCA2 | c.2835del (p.Asp946IlefsTer14) c.2466del (p.Asp823IlefsTer14) n.2835del | ClinVar dbSNP |
| 13 | g.32337189_32337190del | CA016544 | BRCA2 | c.2834_2835del (p.Lys945ArgfsTer13) c.2465_2466del (p.Lys822ArgfsTer13) n.2834_2835del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337188_32337190del | CA609453773 | BRCA2 | c.2833_2835del (p.Lys945del) c.2464_2466del (p.Lys822del) n.2833_2835del | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337186A>C | CA387773840 | BRCA2 | c.2831A>C (p.Lys944Thr) c.2462A>C (p.Lys821Thr) n.2831A>C | ClinVar |
| 13 | g.32337186A>G | CA387773842 | BRCA2 | c.2831A>G (p.Lys944Arg) c.2462A>G (p.Lys821Arg) n.2831A>G | |
| 13 | g.32337186A>T | CA387773843 | BRCA2 | c.2831A>T (p.Lys944Ile) c.2462A>T (p.Lys821Ile) n.2831A>T | dbSNP |
| 13 | g.32337187A= | CA2082811802 | BRCA2 | c.2832A= (p.Lys944=) c.2463A= (p.Lys821=) n.2832A= | |
| 13 | g.32337187A>C | CA387773845 | BRCA2 | c.2832A>C (p.Lys944Asn) c.2463A>C (p.Lys821Asn) n.2832A>C | |
| 13 | g.32337187A>G | CA483437485 | BRCA2 | c.2832A>G (p.Lys944=) c.2463A>G (p.Lys821=) n.2832A>G | |
| 13 | g.32337187A>T | CA387773847 | BRCA2 | c.2832A>T (p.Lys944Asn) c.2463A>T (p.Lys821Asn) n.2832A>T | dbSNP |
| 13 | g.32337187_32337188insTT | CA658823639 | BRCA2 | c.2832_2833insTT (p.Lys945LeufsTer16) c.2463_2464insTT (p.Lys822LeufsTer16) n.2832_2833insTT | ClinVar dbSNP |
| 13 | g.32337188A= | CA2082811813 | BRCA2 | c.2833A= (p.Lys945=) c.2464A= (p.Lys822=) n.2833A= | |
| 13 | g.32337188A>C | CA387773853 | BRCA2 | c.2833A>C (p.Lys945Gln) c.2464A>C (p.Lys822Gln) n.2833A>C | |
| 13 | g.32337188A>G | CA387773849 | BRCA2 | c.2833A>G (p.Lys945Glu) c.2464A>G (p.Lys822Glu) n.2833A>G | ClinVar |
| 13 | g.32337188A>T | CA387773851 | BRCA2 | c.2833A>T (p.Lys945Ter) c.2464A>T (p.Lys822Ter) n.2833A>T | ClinVar dbSNP |
| 13 | g.32337188_32337189insTT | CA016538 | BRCA2 | c.2833_2834insTT (p.Lys945IlefsTer16) c.2464_2465insTT (p.Lys822IlefsTer16) n.2833_2834insTT | ClinVar dbSNP |
| 13 | g.32337189A= | CA2082811828 | BRCA2 | c.2834A= (p.Lys945=) c.2465A= (p.Lys822=) n.2834A= | |
| 13 | g.32337189A>C | CA387773857 | BRCA2 | c.2834A>C (p.Lys945Thr) c.2465A>C (p.Lys822Thr) n.2834A>C | |
| 13 | g.32337189A>G | CA387773859 | BRCA2 | c.2834A>G (p.Lys945Arg) c.2465A>G (p.Lys822Arg) n.2834A>G | dbSNP |
| 13 | g.32337189A>T | CA387773861 | BRCA2 | c.2834A>T (p.Lys945Ile) c.2465A>T (p.Lys822Ile) n.2834A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337189_32337191delinsAAG | CA2082811826 | BRCA2 | c.2834_2836delinsAAG (p.Lys945=) c.2465_2467delinsAAG (p.Lys822=) n.2834_2836delinsAAG | |
| 13 | g.32337190A= | CA2082811846 | BRCA2 | c.2835A= (p.Lys945=) c.2466A= (p.Lys822=) n.2835A= | |
| 13 | g.32337190A>C | CA016551 | BRCA2 | c.2835A>C (p.Lys945Asn) c.2466A>C (p.Lys822Asn) n.2835A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337190A>G | CA483437492 | BRCA2 | c.2835A>G (p.Lys945=) c.2466A>G (p.Lys822=) n.2835A>G | |
| 13 | g.32337190A>T | CA387773864 | BRCA2 | c.2835A>T (p.Lys945Asn) c.2466A>T (p.Lys822Asn) n.2835A>T | |
| 13 | g.32337190_32337191delinsAG | CA2082811845 | BRCA2 | c.2835_2836delinsAG (p.Lys945=) c.2466_2467delinsAG (p.Lys822=) n.2835_2836delinsAG | |
| 13 | g.32337191_32337192del | CA016565 | BRCA2 | c.2836_2837del (p.Asp946PhefsTer12) c.2467_2468del (p.Asp823PhefsTer12) n.2836_2837del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337191del | CA016571 | BRCA2 | c.2836del (p.Asp946IlefsTer14) c.2467del (p.Asp823IlefsTer14) n.2836del | ClinVar dbSNP |
| 13 | g.32337191G>A | CA387773867 | BRCA2 | c.2836G>A (p.Asp946Asn) c.2467G>A (p.Asp823Asn) n.2836G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337191G>C | CA016576 | BRCA2 | c.2836G>C (p.Asp946His) c.2467G>C (p.Asp823His) n.2836G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337191G= | CA2082811868 | BRCA2 | c.2836G= (p.Asp946=) c.2467G= (p.Asp823=) n.2836G= | |
| 13 | g.32337191G>T | CA387773871 | BRCA2 | c.2836G>T (p.Asp946Tyr) c.2467G>T (p.Asp823Tyr) n.2836G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337192A= | CA2082811880 | BRCA2 | c.2837A= (p.Asp946=) c.2468A= (p.Asp823=) n.2837A= | |
| 13 | g.32337192A>C | CA387773875 | BRCA2 | c.2837A>C (p.Asp946Ala) c.2468A>C (p.Asp823Ala) n.2837A>C | |
| 13 | g.32337192A>G | CA016584 | BRCA2 | c.2837A>G (p.Asp946Gly) c.2468A>G (p.Asp823Gly) n.2837A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337192A>T | CA10583085 | BRCA2 | c.2837A>T (p.Asp946Val) c.2468A>T (p.Asp823Val) n.2837A>T | ClinVar dbSNP |
| 13 | g.32337192_32337193delinsAT | CA2082811885 | BRCA2 | c.2837_2838delinsAT (p.Asp946=) c.2468_2469delinsAT (p.Asp823=) n.2837_2838delinsAT | |
| 13 | g.32337193T>A | CA387773879 | BRCA2 | c.2838T>A (p.Asp946Glu) c.2469T>A (p.Asp823Glu) n.2838T>A | ClinVar dbSNP |
| 13 | g.32337193T>C | CA483437497 | BRCA2 | c.2838T>C (p.Asp946=) c.2469T>C (p.Asp823=) n.2838T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337193T>G | CA6940633 | BRCA2 | c.2838T>G (p.Asp946Glu) c.2469T>G (p.Asp823Glu) n.2838T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337193T= | CA2082811909 | BRCA2 | c.2838T= (p.Asp946=) c.2469T= (p.Asp823=) n.2838T= | |
| 13 | g.32337195del | CA016591 | BRCA2 | c.2840del (p.Leu947TrpfsTer13) c.2471del (p.Leu824TrpfsTer13) n.2840del | ClinVar dbSNP |
| 13 | g.32337194T>A | CA387773883 | BRCA2 | c.2839T>A (p.Leu947Met) c.2470T>A (p.Leu824Met) n.2839T>A | dbSNP |
| 13 | g.32337194T>C | CA483437499 | BRCA2 | c.2839T>C (p.Leu947=) c.2470T>C (p.Leu824=) n.2839T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337194T>G | CA387773885 | BRCA2 | c.2839T>G (p.Leu947Val) c.2470T>G (p.Leu824Val) n.2839T>G | |
| 13 | g.32337195T>A | CA387773887 | BRCA2 | c.2840T>A (p.Leu947Ter) c.2471T>A (p.Leu824Ter) n.2840T>A | ClinVar |
| 13 | g.32337195T>C | CA387773889 | BRCA2 | c.2840T>C (p.Leu947Ser) c.2471T>C (p.Leu824Ser) n.2840T>C | gnomAD v4 |
| 13 | g.32337195T>G | CA387773891 | BRCA2 | c.2840T>G (p.Leu947Trp) c.2471T>G (p.Leu824Trp) n.2840T>G | |
| 13 | g.32337195T= | CA2082811925 | BRCA2 | c.2840T= (p.Leu947=) c.2471T= (p.Leu824=) n.2840T= | |
| 13 | g.32337196G>A | CA483437501 | BRCA2 | c.2841G>A (p.Leu947=) c.2472G>A (p.Leu824=) n.2841G>A | dbSNP |
| 13 | g.32337196G>C | CA387773893 | BRCA2 | c.2841G>C (p.Leu947Phe) c.2472G>C (p.Leu824Phe) n.2841G>C | dbSNP |
| 13 | g.32337196G= | CA2082811935 | BRCA2 | c.2841G= (p.Leu947=) c.2472G= (p.Leu824=) n.2841G= | |
| 13 | g.32337196G>T | CA6940634 | BRCA2 | c.2841G>T (p.Leu947Phe) c.2472G>T (p.Leu824Phe) n.2841G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337197dup | CA016597 | BRCA2 | c.2842dup (p.Val948GlyfsTer11) c.2473dup (p.Val825GlyfsTer11) n.2842dup | ClinVar dbSNP |
| 13 | g.32337196_32337204delinsTGTTCTCC | CA2499222119 | BRCA2 | c.2841_2849delinsTGTTCTCC (p.Leu947PhefsTer13) c.2472_2480delinsTGTTCTCC (p.Leu824PhefsTer13) n.2841_2849delinsTGTTCTCC | |
| 13 | g.32337197G>A | CA387773896 | BRCA2 | c.2842G>A (p.Val948Ile) c.2473G>A (p.Val825Ile) n.2842G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337197G>C | CA387773897 | BRCA2 | c.2842G>C (p.Val948Leu) c.2473G>C (p.Val825Leu) n.2842G>C | |
| 13 | g.32337197G= | CA2082811949 | BRCA2 | c.2842G= (p.Val948=) c.2473G= (p.Val825=) n.2842G= | |
| 13 | g.32337197G>T | CA387773898 | BRCA2 | c.2842G>T (p.Val948Phe) c.2473G>T (p.Val825Phe) n.2842G>T | dbSNP |
| 13 | g.32337197_32337198delinsGT | CA2082811947 | BRCA2 | c.2842_2843delinsGT (p.Val948=) c.2473_2474delinsGT (p.Val825=) n.2842_2843delinsGT | |
| 13 | g.32337198T>A | CA387773904 | BRCA2 | c.2843T>A (p.Val948Asp) c.2474T>A (p.Val825Asp) n.2843T>A | dbSNP |
| 13 | g.32337198T>C | CA016605 | BRCA2 | c.2843T>C (p.Val948Ala) c.2474T>C (p.Val825Ala) n.2843T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337198T>G | CA387773902 | BRCA2 | c.2843T>G (p.Val948Gly) c.2474T>G (p.Val825Gly) n.2843T>G | dbSNP |
| 13 | g.32337198T= | CA2082811962 | BRCA2 | c.2843T= (p.Val948=) c.2474T= (p.Val825=) n.2843T= | |
| 13 | g.32337200del | CA016612 | BRCA2 | c.2845del (p.Tyr949MetfsTer11) c.2476del (p.Tyr826MetfsTer11) n.2845del | ClinVar dbSNP |
| 13 | g.32337199T>A | CA483437508 | BRCA2 | c.2844T>A (p.Val948=) c.2475T>A (p.Val825=) n.2844T>A | dbSNP |
| 13 | g.32337199T>C | CA483437506 | BRCA2 | c.2844T>C (p.Val948=) c.2475T>C (p.Val825=) n.2844T>C | |
| 13 | g.32337199T>G | CA483437510 | BRCA2 | c.2844T>G (p.Val948=) c.2475T>G (p.Val825=) n.2844T>G | dbSNP gnomAD v4 |
| 13 | g.32337199T= | CA2082811981 | BRCA2 | c.2844T= (p.Val948=) c.2475T= (p.Val825=) n.2844T= | |
| 13 | g.32337200T>A | CA387773906 | BRCA2 | c.2845T>A (p.Tyr949Asn) c.2476T>A (p.Tyr826Asn) n.2845T>A | ClinVar dbSNP |
| 13 | g.32337200T>C | CA387773908 | BRCA2 | c.2845T>C (p.Tyr949His) c.2476T>C (p.Tyr826His) n.2845T>C | |
| 13 | g.32337200T>G | CA387773909 | BRCA2 | c.2845T>G (p.Tyr949Asp) c.2476T>G (p.Tyr826Asp) n.2845T>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337200T= | CA2082811990 | BRCA2 | c.2845T= (p.Tyr949=) c.2476T= (p.Tyr826=) n.2845T= | |
| 13 | g.32337201A= | CA2082811999 | BRCA2 | c.2846A= (p.Tyr949=) c.2477A= (p.Tyr826=) n.2846A= | |
| 13 | g.32337201A>C | CA387773911 | BRCA2 | c.2846A>C (p.Tyr949Ser) c.2477A>C (p.Tyr826Ser) n.2846A>C | |
| 13 | g.32337201A>G | CA387773913 | BRCA2 | c.2846A>G (p.Tyr949Cys) c.2477A>G (p.Tyr826Cys) n.2846A>G | dbSNP |
| 13 | g.32337201A>T | CA387773915 | BRCA2 | c.2846A>T (p.Tyr949Phe) c.2477A>T (p.Tyr826Phe) n.2846A>T | dbSNP |