NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)
|
rs876661261
|
0.00001
|
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro)
|
rs80359023
|
0.00001
|
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr)
|
rs1555286874
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
NM_000059.3:c.2829_2830insALU
|
|
|
NM_000059.3:c.3390_3391insALU
|
|
|
NM_000059.3:c.3834_3835insALU
|
|
|
NM_000059.3:c.4993_4994insALU
|
|
|
NM_000059.3:c.5990_5991insL1
|
|
|
NM_000059.3:c.7649_7650insALU
|
|
|
NM_000059.3:c.8814_8815insALU
|
|
|
NM_000059.3:c.8933_8934insALU
|
|
|
NM_000059.3:c.9327_9328insALU
|
|
|
NM_000059.3:c.9451_9452insALU
|
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1909+2T>A
|
rs876658577
|
|
NM_000059.4(BRCA2):c.1910-1_1914del
|
rs1593895760
|
|
NM_000059.4(BRCA2):c.316+1G>T
|
rs397507303
|
|
NM_000059.4(BRCA2):c.316+1del
|
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.475+2T>C
|
rs1555280966
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.476-1G>A
|
rs397507340
|
|
NM_000059.4(BRCA2):c.516+1G>T
|
rs397507762
|
|
NM_000059.4(BRCA2):c.516+4A>G
|
rs2137450725
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.517-1G>C
|
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.631+1G>C
|
rs81002897
|
|
NM_000059.4(BRCA2):c.631+3A>G
|
rs397507840
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-1G>A
|
rs81002820
|
|
NM_000059.4(BRCA2):c.67+2T>G
|
rs81002885
|
|
NM_000059.4(BRCA2):c.67+3A>C
|
|
|
NM_000059.4(BRCA2):c.67+3A>G
|
rs1593880835
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.681+4A>G
|
rs397507884
|
|
NM_000059.4(BRCA2):c.682-1G>C
|
rs81002831
|
|
NM_000059.4(BRCA2):c.682-3C>G
|
|
|
NM_000059.4(BRCA2):c.6841+2T>G
|
rs1593909960
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-1G>A
|
rs786204280
|
|
NM_000059.4(BRCA2):c.7435+2T>C
|
rs1434072252
|
|
NM_000059.4(BRCA2):c.7436-1G>A
|
|
|
NM_000059.4(BRCA2):c.7436-2_7437del
|
rs876659229
|
|
NM_000059.4(BRCA2):c.7510_7617+184del
|
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
NM_000059.4(BRCA2):c.7618-187G>T
|
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys)
|
rs41293509
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)
|
rs786202344
|
|
NM_000059.4(BRCA2):c.7804_7805+9del
|
|
|
NM_000059.4(BRCA2):c.7806-1G>C
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-2A>C
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro)
|
rs80359008
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg)
|
rs1593923998
|
|
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)
|
rs1566244783
|
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)
|
rs876658736
|
|
NM_000059.4(BRCA2):c.793+1G>C
|
rs81002846
|
|
NM_000059.4(BRCA2):c.793+1G>T
|
rs81002846
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln)
|
rs886037817
|
|
NM_000059.4(BRCA2):c.7976+5G>T
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7977-1G>A
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-1G>T
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-4_7977-3del
|
rs876659992
|
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
rs80359029
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe)
|
rs80359044
|
|
NM_000059.4(BRCA2):c.8059_8064del (p.Val2687_Leu2688del)
|
rs1593924996
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)
|
rs80359063
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser)
|
rs1555287065
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+1G>T
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8332-3384A>T
|
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
rs80359076
|
|
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)
|
rs80359079
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)
|
rs587781689
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG
|
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1_8496delinsCT
|
rs1555287731
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
NM_000059.4(BRCA2):c.8633-27_8633-9del
|
|
|
NM_000059.4(BRCA2):c.8633-2A>G
|
rs81002886
|
|
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT
|
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+1del
|
rs1593935041
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8754+5G>C
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-2A>G
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755-3_8755-2delinsGG
|
|
|
NM_000059.4(BRCA2):c.8755-6_8755-2del
|
|
|
NM_000059.4(BRCA2):c.8755-9T>A
|
rs397507413
|
|
NM_000059.4(BRCA2):c.8953+1G>A
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8953+1del
|
rs730881617
|
|
NM_000059.4(BRCA2):c.8954-2_8959del
|
rs1566252995
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly)
|
rs1555288459
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
rs431825373
|
|
NM_000059.4(BRCA2):c.9116_9117+4del
|
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
NM_000059.4(BRCA2):c.9117+3A>G
|
rs1555288517
|
|
NM_000059.4(BRCA2):c.9118-2A>T
|
rs81002862
|
|
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)
|
rs80359171
|
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
rs876658262
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9254_9256+11del
|
rs1555288584
|
|
NM_000059.4(BRCA2):c.9256+1G>C
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256+2T>A
|
|
|
NM_000059.4(BRCA2):c.9257-1G>A
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-1G>T
|
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
rs1555289566
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9502-1G>A
|
|
|
NM_000059.4(BRCA2):c.9502-2A>C
|
rs81002868
|
|
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA
|
|
|
NM_000059.4(BRCA2):c.9502-8_9504dup
|
|
|
NM_000059.4(BRCA2):c.9649-12T>G
|
|
|
NM_000059.4(BRCA2):c.9649-1G>C
|
rs1555289898
|
|
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)
|
rs1555289997
|
|