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.32337158_32337162delinsGATAA | CA2082811477 | BRCA2 | c.2803_2807delinsGATAA (p.Asp935=) c.2434_2438delinsGATAA (p.Asp812=) n.2803_2807delinsGATAA | |
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 |
13 | g.32337202T>A | CA10589175 | BRCA2 | c.2847T>A (p.Tyr949Ter) c.2478T>A (p.Tyr826Ter) n.2847T>A | ClinVar dbSNP |
13 | g.32337202T>C | CA483437515 | BRCA2 | c.2847T>C (p.Tyr949=) c.2478T>C (p.Tyr826=) n.2847T>C | dbSNP gnomAD v4 |
13 | g.32337202T>G | CA387773918 | BRCA2 | c.2847T>G (p.Tyr949Ter) c.2478T>G (p.Tyr826Ter) n.2847T>G | |
13 | g.32337202T= | CA2082812007 | BRCA2 | c.2847T= (p.Tyr949=) c.2478T= (p.Tyr826=) n.2847T= | |
13 | g.32337203G>A | CA6940635 | BRCA2 | c.2848G>A (p.Val950Ile) c.2479G>A (p.Val827Ile) n.2848G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337203G>C | CA387773920 | BRCA2 | c.2848G>C (p.Val950Leu) c.2479G>C (p.Val827Leu) n.2848G>C | |
13 | g.32337203G= | CA2082812021 | BRCA2 | c.2848G= (p.Val950=) c.2479G= (p.Val827=) n.2848G= | |
13 | g.32337203G>T | CA387773922 | BRCA2 | c.2848G>T (p.Val950Phe) c.2479G>T (p.Val827Phe) n.2848G>T | gnomAD v4 COSMIC COSMIC |
13 | g.32337204T>A | CA016619 | BRCA2 | c.2849T>A (p.Val950Asp) c.2480T>A (p.Val827Asp) n.2849T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337204T>C | CA387773928 | BRCA2 | c.2849T>C (p.Val950Ala) c.2480T>C (p.Val827Ala) n.2849T>C | dbSNP |
13 | g.32337204T>G | CA387773926 | BRCA2 | c.2849T>G (p.Val950Gly) c.2480T>G (p.Val827Gly) n.2849T>G | ClinVar dbSNP |
13 | g.32337204T= | CA2082812036 | BRCA2 | c.2849T= (p.Val950=) c.2480T= (p.Val827=) n.2849T= | |
13 | g.32337205T>A | CA483437522 | BRCA2 | c.2850T>A (p.Val950=) c.2481T>A (p.Val827=) n.2850T>A | dbSNP |
13 | g.32337205T>C | CA483437524 | BRCA2 | c.2850T>C (p.Val950=) c.2481T>C (p.Val827=) n.2850T>C | |
13 | g.32337205T>G | CA483437525 | BRCA2 | c.2850T>G (p.Val950=) c.2481T>G (p.Val827=) n.2850T>G | |
13 | g.32337206C>A | CA387773930 | BRCA2 | c.2851C>A (p.Leu951Ile) c.2482C>A (p.Leu828Ile) n.2851C>A | gnomAD v4 COSMIC COSMIC |
13 | g.32337206C>G | CA387773934 | BRCA2 | c.2851C>G (p.Leu951Val) c.2482C>G (p.Leu828Val) n.2851C>G | ClinVar dbSNP |
13 | g.32337206C>T | CA387773932 | BRCA2 | c.2851C>T (p.Leu951Phe) c.2482C>T (p.Leu828Phe) n.2851C>T | dbSNP |
13 | g.32337207T>A | CA387773936 | BRCA2 | c.2852T>A (p.Leu951His) c.2483T>A (p.Leu828His) n.2852T>A | dbSNP |
13 | g.32337207T>C | CA387773938 | BRCA2 | c.2852T>C (p.Leu951Pro) c.2483T>C (p.Leu828Pro) n.2852T>C | ClinVar dbSNP |
13 | g.32337207T>G | CA387773940 | BRCA2 | c.2852T>G (p.Leu951Arg) c.2483T>G (p.Leu828Arg) n.2852T>G | |
13 | g.32337208T>A | CA483437532 | BRCA2 | c.2853T>A (p.Leu951=) c.2484T>A (p.Leu828=) n.2853T>A | |
13 | g.32337208T>C | CA483437531 | BRCA2 | c.2853T>C (p.Leu951=) c.2484T>C (p.Leu828=) n.2853T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337208T>G | CA483437530 | BRCA2 | c.2853T>G (p.Leu951=) c.2484T>G (p.Leu828=) n.2853T>G | ClinVar dbSNP |
13 | g.32337208T= | CA2082812053 | BRCA2 | c.2853T= (p.Leu951=) c.2484T= (p.Leu828=) n.2853T= | |
13 | g.32337209G>A | CA387773941 | BRCA2 | c.2854G>A (p.Ala952Thr) c.2485G>A (p.Ala829Thr) n.2854G>A | dbSNP |
13 | g.32337209G>C | CA387773943 | BRCA2 | c.2854G>C (p.Ala952Pro) c.2485G>C (p.Ala829Pro) n.2854G>C | dbSNP |
13 | g.32337209G= | CA2082812062 | BRCA2 | c.2854G= (p.Ala952=) c.2485G= (p.Ala829=) n.2854G= | |
13 | g.32337209G>T | CA016630 | BRCA2 | c.2854G>T (p.Ala952Ser) c.2485G>T (p.Ala829Ser) n.2854G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337210C>A | CA387773946 | BRCA2 | c.2855C>A (p.Ala952Glu) c.2486C>A (p.Ala829Glu) n.2855C>A | dbSNP |
13 | g.32337210C= | CA2082812075 | BRCA2 | c.2855C= (p.Ala952=) c.2486C= (p.Ala829=) n.2855C= | |
13 | g.32337210C>G | CA387773948 | BRCA2 | c.2855C>G (p.Ala952Gly) c.2486C>G (p.Ala829Gly) n.2855C>G | ClinVar dbSNP |
13 | g.32337210C>T | CA6940636 | BRCA2 | c.2855C>T (p.Ala952Val) c.2486C>T (p.Ala829Val) n.2855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337211A>C | CA483437537 | BRCA2 | c.2856A>C (p.Ala952=) c.2487A>C (p.Ala829=) n.2856A>C | |
13 | g.32337211A>G | CA483437538 | BRCA2 | c.2856A>G (p.Ala952=) c.2487A>G (p.Ala829=) n.2856A>G | dbSNP |
13 | g.32337211A>T | CA483437539 | BRCA2 | c.2856A>T (p.Ala952=) c.2487A>T (p.Ala829=) n.2856A>T | dbSNP |
13 | g.32337211_32337214delinsAGAG | CA2082812077 | BRCA2 | c.2856_2859delinsAGAG (p.Ala952=) c.2487_2490delinsAGAG (p.Ala829=) n.2856_2859delinsAGAG | |
13 | g.32337212G>A | CA387773951 | BRCA2 | c.2857G>A (p.Glu953Lys) c.2488G>A (p.Glu830Lys) n.2857G>A | dbSNP |
13 | g.32337212G>C | CA387773953 | BRCA2 | c.2857G>C (p.Glu953Gln) c.2488G>C (p.Glu830Gln) n.2857G>C | dbSNP |
13 | g.32337212G>T | CA387773955 | BRCA2 | c.2857G>T (p.Glu953Ter) c.2488G>T (p.Glu830Ter) n.2857G>T | |
13 | g.32337212_32337213delinsGA | CA2082812092 | BRCA2 | c.2857_2858delinsGA (p.Glu953=) c.2488_2489delinsGA (p.Glu830=) n.2857_2858delinsGA | |
13 | g.32337215_32337217del | CA016637 | BRCA2 | c.2860_2862del (p.Glu954del) c.2491_2493del (p.Glu831del) n.2860_2862del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337213del | CA10589176 | BRCA2 | c.2858del (p.Glu953GlyfsTer7) c.2489del (p.Glu830GlyfsTer7) n.2858del | ClinVar dbSNP |
13 | g.32337213A= | CA2082812097 | BRCA2 | c.2858A= (p.Glu953=) c.2489A= (p.Glu830=) n.2858A= | |
13 | g.32337213A>C | CA387773965 | BRCA2 | c.2858A>C (p.Glu953Ala) c.2489A>C (p.Glu830Ala) n.2858A>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337213A>G | CA387773958 | BRCA2 | c.2858A>G (p.Glu953Gly) c.2489A>G (p.Glu830Gly) n.2858A>G | dbSNP |
13 | g.32337213A>T | CA387773961 | BRCA2 | c.2858A>T (p.Glu953Val) c.2489A>T (p.Glu830Val) n.2858A>T | dbSNP |
13 | g.32337213_32337214delinsAG | CA2082812100 | BRCA2 | c.2858_2859delinsAG (p.Glu953=) c.2489_2490delinsAG (p.Glu830=) n.2858_2859delinsAG | |
13 | g.32337214G>A | CA483437544 | BRCA2 | c.2859G>A (p.Glu953=) c.2490G>A (p.Glu830=) n.2859G>A | dbSNP |
13 | g.32337214G>C | CA387773967 | BRCA2 | c.2859G>C (p.Glu953Asp) c.2490G>C (p.Glu830Asp) n.2859G>C | dbSNP |
13 | g.32337214G= | CA2082812113 | BRCA2 | c.2859G= (p.Glu953=) c.2490G= (p.Glu830=) n.2859G= | |
13 | g.32337214G>T | CA387773969 | BRCA2 | c.2859G>T (p.Glu953Asp) c.2490G>T (p.Glu830Asp) n.2859G>T | dbSNP |
13 | g.32337215del | CA915948442 | BRCA2 | c.2860del (p.Glu954ArgfsTer6) c.2491del (p.Glu831ArgfsTer6) n.2860del | ClinVar dbSNP |
13 | g.32337215G>A | CA387773971 | BRCA2 | c.2860G>A (p.Glu954Lys) c.2491G>A (p.Glu831Lys) n.2860G>A | ClinVar dbSNP |
13 | g.32337215G>C | CA387773972 | BRCA2 | c.2860G>C (p.Glu954Gln) c.2491G>C (p.Glu831Gln) n.2860G>C | dbSNP |
13 | g.32337215G= | CA2082812118 | BRCA2 | c.2860G= (p.Glu954=) c.2491G= (p.Glu831=) n.2860G= | |
13 | g.32337215G>T | CA387773975 | BRCA2 | c.2860G>T (p.Glu954Ter) c.2491G>T (p.Glu831Ter) n.2860G>T | ClinVar dbSNP |
13 | g.32337216A= | CA2082812126 | BRCA2 | c.2861A= (p.Glu954=) c.2492A= (p.Glu831=) n.2861A= | |
13 | g.32337216A>C | CA387773977 | BRCA2 | c.2861A>C (p.Glu954Ala) c.2492A>C (p.Glu831Ala) n.2861A>C | gnomAD v4 |
13 | g.32337216A>G | CA387773978 | BRCA2 | c.2861A>G (p.Glu954Gly) c.2492A>G (p.Glu831Gly) n.2861A>G | ClinVar dbSNP |
13 | g.32337216A>T | CA387773980 | BRCA2 | c.2861A>T (p.Glu954Val) c.2492A>T (p.Glu831Val) n.2861A>T | dbSNP |
13 | g.32337217G>A | CA6940637 | BRCA2 | c.2862G>A (p.Glu954=) c.2493G>A (p.Glu831=) n.2862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337217G>C | CA387773984 | BRCA2 | c.2862G>C (p.Glu954Asp) c.2493G>C (p.Glu831Asp) n.2862G>C | dbSNP |
13 | g.32337217G= | CA2082812135 | BRCA2 | c.2862G= (p.Glu954=) c.2493G= (p.Glu831=) n.2862G= | |
13 | g.32337217G>T | CA387773982 | BRCA2 | c.2862G>T (p.Glu954Asp) c.2493G>T (p.Glu831Asp) n.2862G>T | dbSNP |
13 | g.32337218A>C | CA387773989 | BRCA2 | c.2863A>C (p.Asn955His) c.2494A>C (p.Asn832His) n.2863A>C | dbSNP |
13 | g.32337218A>G | CA387773991 | BRCA2 | c.2863A>G (p.Asn955Asp) c.2494A>G (p.Asn832Asp) n.2863A>G | dbSNP |
13 | g.32337218A>T | CA387773992 | BRCA2 | c.2863A>T (p.Asn955Tyr) c.2494A>T (p.Asn832Tyr) n.2863A>T | dbSNP |
13 | g.32337219A= | CA2082812146 | BRCA2 | c.2864A= (p.Asn955=) c.2495A= (p.Asn832=) n.2864A= | |
13 | g.32337219A>C | CA387773995 | BRCA2 | c.2864A>C (p.Asn955Thr) c.2495A>C (p.Asn832Thr) n.2864A>C | |
13 | g.32337219A>G | CA16613941 | BRCA2 | c.2864A>G (p.Asn955Ser) c.2495A>G (p.Asn832Ser) n.2864A>G | ClinVar dbSNP |
13 | g.32337219A>T | CA387773997 | BRCA2 | c.2864A>T (p.Asn955Ile) c.2495A>T (p.Asn832Ile) n.2864A>T | dbSNP |
13 | g.32337220C>A | CA387774000 | BRCA2 | c.2865C>A (p.Asn955Lys) c.2496C>A (p.Asn832Lys) n.2865C>A | dbSNP gnomAD v4 |
13 | g.32337220C>G | CA387773998 | BRCA2 | c.2865C>G (p.Asn955Lys) c.2496C>G (p.Asn832Lys) n.2865C>G | ClinVar dbSNP |
13 | g.32337220C>T | CA483437068 | BRCA2 | c.2865C>T (p.Asn955=) c.2496C>T (p.Asn832=) n.2865C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337220_32337221delinsCA | CA2082812154 | BRCA2 | c.2865_2866delinsCA (p.Asn955=) c.2496_2497delinsCA (p.Asn832=) n.2865_2866delinsCA | |
13 | g.32337221A>C | CA387774003 | BRCA2 | c.2866A>C (p.Lys956Gln) c.2497A>C (p.Lys833Gln) n.2866A>C | dbSNP |
13 | g.32337221A>G | CA387774005 | BRCA2 | c.2866A>G (p.Lys956Glu) c.2497A>G (p.Lys833Glu) n.2866A>G | |
13 | g.32337221A>T | CA387774006 | BRCA2 | c.2866A>T (p.Lys956Ter) c.2497A>T (p.Lys833Ter) n.2866A>T | |
13 | g.32337225dup | CA2582341841 | BRCA2 | c.2870dup (p.Asn957LysfsTer2) c.2501dup (p.Asn834LysfsTer2) n.2870dup | ClinVar |
13 | g.32337225del | CA016645 | BRCA2 | c.2870del (p.Asn957IlefsTer3) c.2501del (p.Asn834IlefsTer3) n.2870del | ClinVar dbSNP |
13 | g.32337224_32337225del | CA2695218019 | BRCA2 | c.2869_2870del (p.Asn957Ter) c.2500_2501del (p.Asn834Ter) n.2869_2870del | |
13 | g.32337222A= | CA2082812169 | BRCA2 | c.2867A= (p.Lys956=) c.2498A= (p.Lys833=) n.2867A= | |
13 | g.32337222A>C | CA387774009 | BRCA2 | c.2867A>C (p.Lys956Thr) c.2498A>C (p.Lys833Thr) n.2867A>C | COSMIC COSMIC |
13 | g.32337222A>G | CA6940638 | BRCA2 | c.2867A>G (p.Lys956Arg) c.2498A>G (p.Lys833Arg) n.2867A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337222A>T | CA387774011 | BRCA2 | c.2867A>T (p.Lys956Ile) c.2498A>T (p.Lys833Ile) n.2867A>T | dbSNP |
13 | g.32337223A= | CA2082812179 | BRCA2 | c.2868A= (p.Lys956=) c.2499A= (p.Lys833=) n.2868A= | |
13 | g.32337223A>C | CA387774013 | BRCA2 | c.2868A>C (p.Lys956Asn) c.2499A>C (p.Lys833Asn) n.2868A>C | dbSNP |
13 | g.32337223A>G | CA483437075 | BRCA2 | c.2868A>G (p.Lys956=) c.2499A>G (p.Lys833=) n.2868A>G | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
13 | g.32337223A>T | CA387774014 | BRCA2 | c.2868A>T (p.Lys956Asn) c.2499A>T (p.Lys833Asn) n.2868A>T | dbSNP |
13 | g.32337223_32337224insCCAAACACACCCAACAC | CA2798719286 | BRCA2 | c.2868_2869insCCAAACACACCCAACAC (p.Asn957ProfsTer9) c.2499_2500insCCAAACACACCCAACAC (p.Asn834ProfsTer9) n.2868_2869insCCAAACACACCCAACAC | |
13 | g.32337224A>C | CA387774015 | BRCA2 | c.2869A>C (p.Asn957His) c.2500A>C (p.Asn834His) n.2869A>C | |
13 | g.32337224A>G | CA387774016 | BRCA2 | c.2869A>G (p.Asn957Asp) c.2500A>G (p.Asn834Asp) n.2869A>G | dbSNP |
13 | g.32337224A>T | CA387774017 | BRCA2 | c.2869A>T (p.Asn957Tyr) c.2500A>T (p.Asn834Tyr) n.2869A>T | dbSNP |
13 | g.32337224_32337225insCCAAACACACCCAACAC | CA2798719293 | BRCA2 | c.2869_2870insCCAAACACACCCAACAC (p.Asn957ThrfsTer9) c.2500_2501insCCAAACACACCCAACAC (p.Asn834ThrfsTer9) n.2869_2870insCCAAACACACCCAACAC | |
13 | g.32337225A= | CA2082812187 | BRCA2 | c.2870A= (p.Asn957=) c.2501A= (p.Asn834=) n.2870A= | |
13 | g.32337225A>C | CA387774019 | BRCA2 | c.2870A>C (p.Asn957Thr) c.2501A>C (p.Asn834Thr) n.2870A>C | |
13 | g.32337225A>G | CA387774021 | BRCA2 | c.2870A>G (p.Asn957Ser) c.2501A>G (p.Asn834Ser) n.2870A>G | ClinVar dbSNP |
13 | g.32337225A>T | CA387774022 | BRCA2 | c.2870A>T (p.Asn957Ile) c.2501A>T (p.Asn834Ile) n.2870A>T | |
13 | g.32337225_32337226insCCAAACACACCCAACACA | CA2798719292 | BRCA2 | c.2870_2871insCCAAACACACCCAACACA (p.Asn957_Ser958insGlnThrHisProThrHis) c.2501_2502insCCAAACACACCCAACACA (p.Asn834_Ser835insGlnThrHisProThrHis) n.2870_2871insCCAAACACACCCAACACA | |
13 | g.32337226T>A | CA387774023 | BRCA2 | c.2871T>A (p.Asn957Lys) c.2502T>A (p.Asn834Lys) n.2871T>A | dbSNP |
13 | g.32337226T>C | CA483437076 | BRCA2 | c.2871T>C (p.Asn957=) c.2502T>C (p.Asn834=) n.2871T>C | ClinVar dbSNP |
13 | g.32337226T>G | CA387774024 | BRCA2 | c.2871T>G (p.Asn957Lys) c.2502T>G (p.Asn834Lys) n.2871T>G | dbSNP |
13 | g.32337226T= | CA2082812195 | BRCA2 | c.2871T= (p.Asn957=) c.2502T= (p.Asn834=) n.2871T= | |
13 | g.32337227del | CA2695199255 | BRCA2 | c.2872del (p.Ser958ValfsTer2) c.2503del (p.Ser835ValfsTer2) n.2872del | ClinVar |
13 | g.32337227A= | CA2082812206 | BRCA2 | c.2872A= (p.Ser958=) c.2503A= (p.Ser835=) n.2872A= | |
13 | g.32337227A>C | CA387774031 | BRCA2 | c.2872A>C (p.Ser958Arg) c.2503A>C (p.Ser835Arg) n.2872A>C | |
13 | g.32337227A>G | CA016655 | BRCA2 | c.2872A>G (p.Ser958Gly) c.2503A>G (p.Ser835Gly) n.2872A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337227A>T | CA387774034 | BRCA2 | c.2872A>T (p.Ser958Cys) c.2503A>T (p.Ser835Cys) n.2872A>T | ClinVar dbSNP |
13 | g.32337228G>A | CA387774040 | BRCA2 | c.2873G>A (p.Ser958Asn) c.2504G>A (p.Ser835Asn) n.2873G>A | ClinVar dbSNP |
13 | g.32337228G>C | CA387774039 | BRCA2 | c.2873G>C (p.Ser958Thr) c.2504G>C (p.Ser835Thr) n.2873G>C | dbSNP |
13 | g.32337228G>T | CA387774037 | BRCA2 | c.2873G>T (p.Ser958Ile) c.2504G>T (p.Ser835Ile) n.2873G>T | dbSNP |
13 | g.32337229T>A | CA387774042 | BRCA2 | c.2874T>A (p.Ser958Arg) c.2505T>A (p.Ser835Arg) n.2874T>A | dbSNP |
13 | g.32337229T>C | CA483437081 | BRCA2 | c.2874T>C (p.Ser958=) c.2505T>C (p.Ser835=) n.2874T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337229T>G | CA387774044 | BRCA2 | c.2874T>G (p.Ser958Arg) c.2505T>G (p.Ser835Arg) n.2874T>G | ClinVar dbSNP |
13 | g.32337229T= | CA2082812215 | BRCA2 | c.2874T= (p.Ser958=) c.2505T= (p.Ser835=) n.2874T= | |
13 | g.32337230G>A | CA387774046 | BRCA2 | c.2875G>A (p.Val959Ile) c.2506G>A (p.Val836Ile) n.2875G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337230G>C | CA387774048 | BRCA2 | c.2875G>C (p.Val959Leu) c.2506G>C (p.Val836Leu) n.2875G>C | dbSNP |
13 | g.32337230G= | CA2082812221 | BRCA2 | c.2875G= (p.Val959=) c.2506G= (p.Val836=) n.2875G= | |
13 | g.32337230G>T | CA387774050 | BRCA2 | c.2875G>T (p.Val959Leu) c.2506G>T (p.Val836Leu) n.2875G>T | dbSNP |
13 | g.32337231T>A | CA387774052 | BRCA2 | c.2876T>A (p.Val959Glu) c.2507T>A (p.Val836Glu) n.2876T>A | |
13 | g.32337231T>C | CA387774053 | BRCA2 | c.2876T>C (p.Val959Ala) c.2507T>C (p.Val836Ala) n.2876T>C | ClinVar gnomAD v4 |
13 | g.32337231T>G | CA387774055 | BRCA2 | c.2876T>G (p.Val959Gly) c.2507T>G (p.Val836Gly) n.2876T>G | |
13 | g.32337232A>C | CA483437090 | BRCA2 | c.2877A>C (p.Val959=) c.2508A>C (p.Val836=) n.2877A>C | |
13 | g.32337232A>G | CA483437091 | BRCA2 | c.2877A>G (p.Val959=) c.2508A>G (p.Val836=) n.2877A>G | |
13 | g.32337232A>T | CA483437093 | BRCA2 | c.2877A>T (p.Val959=) c.2508A>T (p.Val836=) n.2877A>T | dbSNP |
13 | g.32337233A= | CA2082812228 | BRCA2 | c.2878A= (p.Lys960=) c.2509A= (p.Lys837=) n.2878A= | |
13 | g.32337233A>C | CA387774058 | BRCA2 | c.2878A>C (p.Lys960Gln) c.2509A>C (p.Lys837Gln) n.2878A>C | ClinVar |
13 | g.32337233A>G | CA10579554 | BRCA2 | c.2878A>G (p.Lys960Glu) c.2509A>G (p.Lys837Glu) n.2878A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337233A>T | CA387774060 | BRCA2 | c.2878A>T (p.Lys960Ter) c.2509A>T (p.Lys837Ter) n.2878A>T | |
13 | g.32337234A>C | CA387774062 | BRCA2 | c.2879A>C (p.Lys960Thr) c.2510A>C (p.Lys837Thr) n.2879A>C | |
13 | g.32337234A>G | CA387774064 | BRCA2 | c.2879A>G (p.Lys960Arg) c.2510A>G (p.Lys837Arg) n.2879A>G | dbSNP |
13 | g.32337234A>T | CA387774065 | BRCA2 | c.2879A>T (p.Lys960Met) c.2510A>T (p.Lys837Met) n.2879A>T | dbSNP |
13 | g.32337234_32337235delinsAG | CA2082812238 | BRCA2 | c.2879_2880delinsAG (p.Lys960=) c.2510_2511delinsAG (p.Lys837=) n.2879_2880delinsAG | |
13 | g.32337235del | CA10589177 | BRCA2 | c.2880del (p.Lys960AsnfsTer4) c.2511del (p.Lys837AsnfsTer4) n.2880del | ClinVar dbSNP |
13 | g.32337235G>A | CA483437096 | BRCA2 | c.2880G>A (p.Lys960=) c.2511G>A (p.Lys837=) n.2880G>A | ClinVar dbSNP |
13 | g.32337235G>C | CA247503235 | BRCA2 | c.2880G>C (p.Lys960Asn) c.2511G>C (p.Lys837Asn) n.2880G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337235G= | CA2082812258 | BRCA2 | c.2880G= (p.Lys960=) c.2511G= (p.Lys837=) n.2880G= | |
13 | g.32337235G>T | CA387774068 | BRCA2 | c.2880G>T (p.Lys960Asn) c.2511G>T (p.Lys837Asn) n.2880G>T | dbSNP |
13 | g.32337236C>A | CA387774072 | BRCA2 | c.2881C>A (p.Gln961Lys) c.2512C>A (p.Gln838Lys) n.2881C>A | dbSNP |
13 | g.32337236C= | CA2082812277 | BRCA2 | c.2881C= (p.Gln961=) c.2512C= (p.Gln838=) n.2881C= | |
13 | g.32337236C>G | CA016663 | BRCA2 | c.2881C>G (p.Gln961Glu) c.2512C>G (p.Gln838Glu) n.2881C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337236C>T | CA016668 | BRCA2 | c.2881C>T (p.Gln961Ter) c.2512C>T (p.Gln838Ter) n.2881C>T | ClinVar dbSNP |
13 | g.32337236_32337261delinsCAGCATATAAAAATGACTCTAGGTCA | CA2082812288 | BRCA2 | c.2881_2906delinsCAGCATATAAAAATGACTCTAGGTCA (p.Gln961=) c.2512_2537delinsCAGCATATAAAAATGACTCTAGGTCA (p.Gln838=) n.2881_2906delinsCAGCATATAAAAATGACTCTAGGTCA | |
13 | g.32337237A= | CA2082812306 | BRCA2 | c.2882A= (p.Gln961=) c.2513A= (p.Gln838=) n.2882A= | |
13 | g.32337237A>C | CA387774076 | BRCA2 | c.2882A>C (p.Gln961Pro) c.2513A>C (p.Gln838Pro) n.2882A>C | |
13 | g.32337237A>G | CA387774078 | BRCA2 | c.2882A>G (p.Gln961Arg) c.2513A>G (p.Gln838Arg) n.2882A>G | ClinVar COSMIC COSMIC |
13 | g.32337237A>T | CA387774080 | BRCA2 | c.2882A>T (p.Gln961Leu) c.2513A>T (p.Gln838Leu) n.2882A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337237_32337238delinsAG | CA2082812304 | BRCA2 | c.2882_2883delinsAG (p.Gln961=) c.2513_2514delinsAG (p.Gln838=) n.2882_2883delinsAG | |
13 | g.32337239_32337263del | CA658656395 | BRCA2 | c.2884_2908del (p.His962IlefsTer2) c.2515_2539del (p.His839IlefsTer2) n.2884_2908del | ClinVar dbSNP |
13 | g.32337238del | CA915948443 | BRCA2 | c.2883del (p.Gln961HisfsTer3) c.2514del (p.Gln838HisfsTer3) n.2883del | ClinVar dbSNP |
13 | g.32337238G>A | CA016678 | BRCA2 | c.2883G>A (p.Gln961=) c.2514G>A (p.Gln838=) n.2883G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337238G>C | CA387774083 | BRCA2 | c.2883G>C (p.Gln961His) c.2514G>C (p.Gln838His) n.2883G>C | dbSNP |
13 | g.32337238G= | CA2082812327 | BRCA2 | c.2883G= (p.Gln961=) c.2514G= (p.Gln838=) n.2883G= | |
13 | g.32337238G>T | CA387774084 | BRCA2 | c.2883G>T (p.Gln961His) c.2514G>T (p.Gln838His) n.2883G>T | ClinVar dbSNP |
13 | g.32337239C>A | CA387774086 | BRCA2 | c.2884C>A (p.His962Asn) c.2515C>A (p.His839Asn) n.2884C>A | dbSNP |
13 | g.32337239C= | CA2082812348 | BRCA2 | c.2884C= (p.His962=) c.2515C= (p.His839=) n.2884C= | |
13 | g.32337239C>G | CA387774088 | BRCA2 | c.2884C>G (p.His962Asp) c.2515C>G (p.His839Asp) n.2884C>G | ClinVar dbSNP |
13 | g.32337239C>T | CA6940639 | BRCA2 | c.2884C>T (p.His962Tyr) c.2515C>T (p.His839Tyr) n.2884C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337239_32337498delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | CA2082812358 | BRCA2 | c.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His962=) c.2515_2774delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His839=) n.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | |
13 | g.32337240A= | CA2082812366 | BRCA2 | c.2885A= (p.His962=) c.2516A= (p.His839=) n.2885A= | |
13 | g.32337240A>C | CA387774095 | BRCA2 | c.2885A>C (p.His962Pro) c.2516A>C (p.His839Pro) n.2885A>C | |
13 | g.32337240A>G | CA387774093 | BRCA2 | c.2885A>G (p.His962Arg) c.2516A>G (p.His839Arg) n.2885A>G | dbSNP |
13 | g.32337240A>T | CA387774092 | BRCA2 | c.2885A>T (p.His962Leu) c.2516A>T (p.His839Leu) n.2885A>T | dbSNP |
13 | g.32337240dup | CA2499222120 | BRCA2 | c.2885dup (p.His962GlnfsTer20) c.2516dup (p.His839GlnfsTer20) n.2885dup | ClinVar dbSNP |
13 | g.32337240_32337469delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | CA2082812369 | BRCA2 | c.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His962=) c.2516_2745delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His839=) n.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | |
13 | g.32337241_32337499del | CA1139663129 | BRCA2 | c.2886_3144del (p.His962GlnfsTer6) c.2517_2775del (p.His839GlnfsTer6) n.2886_3144del | ClinVar dbSNP |
13 | g.32337241T>A | CA387774099 | BRCA2 | c.2886T>A (p.His962Gln) c.2517T>A (p.His839Gln) n.2886T>A | dbSNP |
13 | g.32337241T>C | CA016683 | BRCA2 | c.2886T>C (p.His962=) c.2517T>C (p.His839=) n.2886T>C | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337241T>G | CA387774098 | BRCA2 | c.2886T>G (p.His962Gln) c.2517T>G (p.His839Gln) n.2886T>G | dbSNP |
13 | g.32337241T= | CA2082812385 | BRCA2 | c.2886T= (p.His962=) c.2517T= (p.His839=) n.2886T= | |
13 | g.32337241dup | CA891842153 | BRCA2 | c.2886dup (p.Ile963TyrfsTer19) c.2517dup (p.Ile840TyrfsTer19) n.2886dup | ClinVar dbSNP |
13 | g.32337241_32337469del | CA1139663130 | BRCA2 | c.2886_3114del (p.Ile963LeufsTer4) c.2517_2745del (p.Ile840LeufsTer4) n.2886_3114del | ClinVar dbSNP |
13 | g.32337242A>C | CA387774101 | BRCA2 | c.2887A>C (p.Ile963Leu) c.2518A>C (p.Ile840Leu) n.2887A>C | |
13 | g.32337242A>G | CA387774103 | BRCA2 | c.2887A>G (p.Ile963Val) c.2518A>G (p.Ile840Val) n.2887A>G | ClinVar |
13 | g.32337242A>T | CA387774105 | BRCA2 | c.2887A>T (p.Ile963Leu) c.2518A>T (p.Ile840Leu) n.2887A>T | dbSNP |
13 | g.32337243T>A | CA387774107 | BRCA2 | c.2888T>A (p.Ile963Lys) c.2519T>A (p.Ile840Lys) n.2888T>A | dbSNP |
13 | g.32337243T>C | CA387774109 | BRCA2 | c.2888T>C (p.Ile963Thr) c.2519T>C (p.Ile840Thr) n.2888T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337243T>G | CA387774111 | BRCA2 | c.2888T>G (p.Ile963Arg) c.2519T>G (p.Ile840Arg) n.2888T>G | dbSNP |
13 | g.32337244A= | CA2082812399 | BRCA2 | c.2889A= (p.Ile963=) c.2520A= (p.Ile840=) n.2889A= | |
13 | g.32337244A>C | CA483437123 | BRCA2 | c.2889A>C (p.Ile963=) c.2520A>C (p.Ile840=) n.2889A>C | |
13 | g.32337244A>G | CA387774113 | BRCA2 | c.2889A>G (p.Ile963Met) c.2520A>G (p.Ile840Met) n.2889A>G | dbSNP |
13 | g.32337244A>T | CA483437125 | BRCA2 | c.2889A>T (p.Ile963=) c.2520A>T (p.Ile840=) n.2889A>T | ClinVar dbSNP |
13 | g.32337248del | CA645573220 | BRCA2 | c.2893del (p.Met965Ter) c.2524del (p.Met842Ter) n.2893del | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337245A>C | CA387774115 | BRCA2 | c.2890A>C (p.Lys964Gln) c.2521A>C (p.Lys841Gln) n.2890A>C | |
13 | g.32337245A>G | CA387774117 | BRCA2 | c.2890A>G (p.Lys964Glu) c.2521A>G (p.Lys841Glu) n.2890A>G | |
13 | g.32337245A>T | CA387774119 | BRCA2 | c.2890A>T (p.Lys964Ter) c.2521A>T (p.Lys841Ter) n.2890A>T | dbSNP |
13 | g.32337246A>C | CA387774123 | BRCA2 | c.2891A>C (p.Lys964Thr) c.2522A>C (p.Lys841Thr) n.2891A>C | |
13 | g.32337246A>G | CA387774124 | BRCA2 | c.2891A>G (p.Lys964Arg) c.2522A>G (p.Lys841Arg) n.2891A>G | gnomAD v4 |
13 | g.32337246A>T | CA387774122 | BRCA2 | c.2891A>T (p.Lys964Ile) c.2522A>T (p.Lys841Ile) n.2891A>T | dbSNP |
13 | g.32337247A= | CA2082812412 | BRCA2 | c.2892A= (p.Lys964=) c.2523A= (p.Lys841=) n.2892A= | |
13 | g.32337247A>C | CA387774126 | BRCA2 | c.2892A>C (p.Lys964Asn) c.2523A>C (p.Lys841Asn) n.2892A>C | ClinVar dbSNP |
13 | g.32337247A>G | CA483437132 | BRCA2 | c.2892A>G (p.Lys964=) c.2523A>G (p.Lys841=) n.2892A>G | ClinVar dbSNP |
13 | g.32337247A>T | CA016692 | BRCA2 | c.2892A>T (p.Lys964Asn) c.2523A>T (p.Lys841Asn) n.2892A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337247_32337248insC | CA2695218020 | BRCA2 | c.2892_2893insC (p.Met965HisfsTer17) c.2523_2524insC (p.Met842HisfsTer17) n.2892_2893insC | |
13 | g.32337248A= | CA2082812426 | BRCA2 | c.2893A= (p.Met965=) c.2524A= (p.Met842=) n.2893A= | |
13 | g.32337248A>C | CA387774129 | BRCA2 | c.2893A>C (p.Met965Leu) c.2524A>C (p.Met842Leu) n.2893A>C | dbSNP |
13 | g.32337248A>G | CA387774131 | BRCA2 | c.2893A>G (p.Met965Val) c.2524A>G (p.Met842Val) n.2893A>G | ClinVar dbSNP |
13 | g.32337248A>T | CA387774133 | BRCA2 | c.2893A>T (p.Met965Leu) c.2524A>T (p.Met842Leu) n.2893A>T | dbSNP |
13 | g.32337249T>A | CA387774139 | BRCA2 | c.2894T>A (p.Met965Lys) c.2525T>A (p.Met842Lys) n.2894T>A | dbSNP |
13 | g.32337249T>C | CA387774135 | BRCA2 | c.2894T>C (p.Met965Thr) c.2525T>C (p.Met842Thr) n.2894T>C | ClinVar dbSNP |
13 | g.32337249T>G | CA387774137 | BRCA2 | c.2894T>G (p.Met965Arg) c.2525T>G (p.Met842Arg) n.2894T>G | dbSNP |
13 | g.32337249T= | CA2082812432 | BRCA2 | c.2894T= (p.Met965=) c.2525T= (p.Met842=) n.2894T= | |
13 | g.32337250G>A | CA387774141 | BRCA2 | c.2895G>A (p.Met965Ile) c.2526G>A (p.Met842Ile) n.2895G>A | dbSNP |
13 | g.32337250G>C | CA387774143 | BRCA2 | c.2895G>C (p.Met965Ile) c.2526G>C (p.Met842Ile) n.2895G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337250G= | CA2082812446 | BRCA2 | c.2895G= (p.Met965=) c.2526G= (p.Met842=) n.2895G= | |
13 | g.32337250G>T | CA387774145 | BRCA2 | c.2895G>T (p.Met965Ile) c.2526G>T (p.Met842Ile) n.2895G>T | dbSNP gnomAD v4 |
13 | g.32337251A>C | CA387774148 | BRCA2 | c.2896A>C (p.Thr966Pro) c.2527A>C (p.Thr843Pro) n.2896A>C | |
13 | g.32337251A>G | CA387774151 | BRCA2 | c.2896A>G (p.Thr966Ala) c.2527A>G (p.Thr843Ala) n.2896A>G | ClinVar |
13 | g.32337251A>T | CA387774153 | BRCA2 | c.2896A>T (p.Thr966Ser) c.2527A>T (p.Thr843Ser) n.2896A>T | dbSNP |
13 | g.32337251dup | CA10589178 | BRCA2 | c.2896dup (p.Thr966AsnfsTer16) c.2527dup (p.Thr843AsnfsTer16) n.2896dup | ClinVar dbSNP |
13 | g.32337251_32337253delinsACT | CA2082812458 | BRCA2 | c.2896_2898delinsACT (p.Thr966=) c.2527_2529delinsACT (p.Thr843=) n.2896_2898delinsACT | |
13 | g.32337252C>A | CA387774160 | BRCA2 | c.2897C>A (p.Thr966Asn) c.2528C>A (p.Thr843Asn) n.2897C>A | dbSNP |
13 | g.32337252C>G | CA387774157 | BRCA2 | c.2897C>G (p.Thr966Ser) c.2528C>G (p.Thr843Ser) n.2897C>G | dbSNP |
13 | g.32337252C>T | CA387774155 | BRCA2 | c.2897C>T (p.Thr966Ile) c.2528C>T (p.Thr843Ile) n.2897C>T | dbSNP gnomAD v4 |
13 | g.32337254_32337255del | CA016707 | BRCA2 | c.2899_2900del (p.Leu967ArgfsTer14) c.2530_2531del (p.Leu844ArgfsTer14) n.2899_2900del | ClinVar dbSNP gnomAD v4 |
13 | g.32337253T>A | CA483437156 | BRCA2 | c.2898T>A (p.Thr966=) c.2529T>A (p.Thr843=) n.2898T>A | dbSNP |
13 | g.32337253T>C | CA016699 | BRCA2 | c.2898T>C (p.Thr966=) c.2529T>C (p.Thr843=) n.2898T>C | ClinVar dbSNP |
13 | g.32337253T>G | CA483437160 | BRCA2 | c.2898T>G (p.Thr966=) c.2529T>G (p.Thr843=) n.2898T>G | |
13 | g.32337253T= | CA2082812478 | BRCA2 | c.2898T= (p.Thr966=) c.2529T= (p.Thr843=) n.2898T= | |
13 | g.32337254C>A | CA387774162 | BRCA2 | c.2899C>A (p.Leu967Ile) c.2530C>A (p.Leu844Ile) n.2899C>A | dbSNP |
13 | g.32337254C= | CA2082812488 | BRCA2 | c.2899C= (p.Leu967=) c.2530C= (p.Leu844=) n.2899C= | |
13 | g.32337254C>G | CA016713 | BRCA2 | c.2899C>G (p.Leu967Val) c.2530C>G (p.Leu844Val) n.2899C>G | ClinVar dbSNP |
13 | g.32337254C>T | CA483437165 | BRCA2 | c.2899C>T (p.Leu967=) c.2530C>T (p.Leu844=) n.2899C>T | ClinVar dbSNP |
13 | g.32337255T>A | CA387774165 | BRCA2 | c.2900T>A (p.Leu967Gln) c.2531T>A (p.Leu844Gln) n.2900T>A | dbSNP |
13 | g.32337255T>C | CA016735 | BRCA2 | c.2900T>C (p.Leu967Pro) c.2531T>C (p.Leu844Pro) n.2900T>C | ClinVar dbSNP |
13 | g.32337255T>G | CA387774168 | BRCA2 | c.2900T>G (p.Leu967Arg) c.2531T>G (p.Leu844Arg) n.2900T>G | |
13 | g.32337255T= | CA2082812503 | BRCA2 | c.2900T= (p.Leu967=) c.2531T= (p.Leu844=) n.2900T= | |
13 | g.32337256A>C | CA483437167 | BRCA2 | c.2901A>C (p.Leu967=) c.2532A>C (p.Leu844=) n.2901A>C | |
13 | g.32337256A>G | CA483437168 | BRCA2 | c.2901A>G (p.Leu967=) c.2532A>G (p.Leu844=) n.2901A>G | dbSNP |
13 | g.32337256A>T | CA483437169 | BRCA2 | c.2901A>T (p.Leu967=) c.2532A>T (p.Leu844=) n.2901A>T | dbSNP |
13 | g.32337257G>A | CA387774172 | BRCA2 | c.2902G>A (p.Gly968Ser) c.2533G>A (p.Gly845Ser) n.2902G>A | ClinVar dbSNP |
13 | g.32337257G>C | CA387774170 | BRCA2 | c.2902G>C (p.Gly968Arg) c.2533G>C (p.Gly845Arg) n.2902G>C | dbSNP |
13 | g.32337257G= | CA2082812580 | BRCA2 | c.2902G= (p.Gly968=) c.2533G= (p.Gly845=) n.2902G= | |
13 | g.32337257G>T | CA387774171 | BRCA2 | c.2902G>T (p.Gly968Cys) c.2533G>T (p.Gly845Cys) n.2902G>T | dbSNP |
13 | g.32337257_32337266del | CA2582341843 | BRCA2 | c.2902_2911del (p.Gly968Ter) c.2533_2542del (p.Gly845Ter) n.2902_2911del | ClinVar |
13 | g.32337258G>A | CA387774173 | BRCA2 | c.2903G>A (p.Gly968Asp) c.2534G>A (p.Gly845Asp) n.2903G>A | dbSNP |
13 | g.32337258G>C | CA387774174 | BRCA2 | c.2903G>C (p.Gly968Ala) c.2534G>C (p.Gly845Ala) n.2903G>C | dbSNP |
13 | g.32337258G>T | CA387774175 | BRCA2 | c.2903G>T (p.Gly968Val) c.2534G>T (p.Gly845Val) n.2903G>T | dbSNP |
13 | g.32337259T>A | CA483437177 | BRCA2 | c.2904T>A (p.Gly968=) c.2535T>A (p.Gly845=) n.2904T>A | dbSNP |
13 | g.32337259T>C | CA483437180 | BRCA2 | c.2904T>C (p.Gly968=) c.2535T>C (p.Gly845=) n.2904T>C | ClinVar dbSNP |
13 | g.32337259T>G | CA483437181 | BRCA2 | c.2904T>G (p.Gly968=) c.2535T>G (p.Gly845=) n.2904T>G | dbSNP |
13 | g.32337260C>A | CA387774176 | BRCA2 | c.2905C>A (p.Gln969Lys) c.2536C>A (p.Gln846Lys) n.2905C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337260C= | CA2082812603 | BRCA2 | c.2905C= (p.Gln969=) c.2536C= (p.Gln846=) n.2905C= | |
13 | g.32337260C>G | CA387774177 | BRCA2 | c.2905C>G (p.Gln969Glu) c.2536C>G (p.Gln846Glu) n.2905C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337260C>T | CA10586506 | BRCA2 | c.2905C>T (p.Gln969Ter) c.2536C>T (p.Gln846Ter) n.2905C>T | ClinVar dbSNP |