Feature key Position(s) DescriptionActions Graphical view Length Sequence conflictⁱ 758 S → N in CAA64484 (PubMed:8524414).Curated 1 Sequence conflictⁱ 1761 – 1762 GY → RI in CAA64484 (PubMed:8524414).Curated 2 Sequence conflictⁱ 1767 K → N in CAA64484 (PubMed:8524414).Curated 1 Sequence conflictⁱ 2536 S → P in CAA98995 (PubMed:15057823).Curated 1 Sequence conflictⁱ 3216 L → LVS in CAA97728 (PubMed:15057823).Curated 1

Feature key Position(s) DescriptionActions Graphical view Length Natural variantⁱVAR_028167 25 G → R in BC; abolishes interaction with PALB2. 1 PublicationCorresponds to variant dbSNP:rs80358961EnsemblClinVar. 1 Natural variantⁱVAR_028168 31 W → C in BC; abolishes interaction with PALB2. 1 PublicationCorresponds to variant dbSNP:rs80359214EnsemblClinVar. 1 Natural variantⁱVAR_028169 31 W → R in BC; abolishes interaction with PALB2. 1 PublicationCorresponds to variant dbSNP:rs80359182EnsemblClinVar. 1 Natural variantⁱVAR_005085 32 F → L in BC. 1 PublicationCorresponds to variants dbSNP:rs397508057 and dbSNP:rs1555280339EnsemblClinVarEnsembl. 1 Natural variantⁱVAR_020705 42 Y → C in BC and ovarian cancer; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs4987046EnsemblClinVar. 1 Natural variantⁱVAR_005086 53 K → R in BC. 1 PublicationCorresponds to variant dbSNP:rs397507595EnsemblClinVar. 1 Natural variantⁱVAR_020706 60 N → S in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80358463EnsemblClinVar. 1 Natural variantⁱVAR_032712 64 T → I in BC. 1 PublicationCorresponds to variant dbSNP:rs397507615EnsemblClinVar. 1 Natural variantⁱVAR_005087 75 A → P in ovarian cancer and renal cancer; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28897701EnsemblClinVar. 1 Natural variantⁱVAR_005088 81 F → L in BC. 1 PublicationCorresponds to variant dbSNP:rs80358507EnsemblClinVar. 1 Natural variantⁱVAR_008766 108 N → H. Corresponds to variant dbSNP:rs80358567EnsemblClinVar. 1 Natural variantⁱVAR_032713 118 R → H in one patient with esophageal carcinoma. 1 PublicationCorresponds to variant dbSNP:rs80358603EnsemblClinVar. 1 Natural variantⁱVAR_032714 192 M → T in one patient with pancreatic cancer. 1 PublicationCorresponds to variant dbSNP:rs80358805EnsemblClinVar. 1 Natural variantⁱVAR_005089 201 P → R in BC. 1 PublicationCorresponds to variant dbSNP:rs397507822EnsemblClinVar. 1 Natural variantⁱVAR_005090 211 V → A in BC. 1 Publication 1 Natural variantⁱVAR_005091 222 P → S in BC. 1 PublicationCorresponds to variant dbSNP:rs397507873EnsemblClinVar. 1 Natural variantⁱVAR_032715 225 T → A in one patient with BC; normal RNA expression and splicing. 1 PublicationCorresponds to variant dbSNP:rs80358897EnsemblClinVar. 1 Natural variantⁱVAR_005092 289 N → H Common polymorphism; was originally thought to be linked to ovarian cancer. 7 PublicationsCorresponds to variant dbSNP:rs766173EnsemblClinVar. 1 Natural variantⁱVAR_032716 315 C → S in one patient with esophageal carcinoma. 1 PublicationCorresponds to variant dbSNP:rs79483201EnsemblClinVar. 1 Natural variantⁱVAR_018908 322 K → Q1 PublicationCorresponds to variant dbSNP:rs11571640EnsemblClinVar. 1 Natural variantⁱVAR_032717 326 S → R in BC. 1 PublicationCorresponds to variant dbSNP:rs28897706EnsemblClinVar. 1 Natural variantⁱVAR_008767 327 K → E in BC; unknown pathological significance. Corresponds to variant dbSNP:rs80359242EnsemblClinVar. 1 Natural variantⁱVAR_005093 355 V → L in lung cancer. 1 Natural variantⁱVAR_005094 372 N → H Common polymorphism; may be associated with an increased risk of breast cancer. 10 PublicationsCorresponds to variant dbSNP:rs144848EnsemblClinVar. 1 Natural variantⁱVAR_020707 405 G → R in BC; unknown pathological significance. 1 Publication 1 Natural variantⁱVAR_020708 431 T → I in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs876660828EnsemblClinVar. 1 Natural variantⁱVAR_020709 448 R → H in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80358423EnsemblClinVar. 1 Natural variantⁱVAR_020710 462 E → G in BC; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs56403624EnsemblClinVar. 1 Natural variantⁱVAR_032718 505 I → T in BC. 1 PublicationCorresponds to variant dbSNP:rs28897708EnsemblClinVar. 1 Natural variantⁱVAR_056751 513 K → R. Corresponds to variant dbSNP:rs28897709EnsemblClinVar. 1 Natural variantⁱVAR_005095 554 C → W in BC and pancreas cancer. 1 PublicationCorresponds to variant dbSNP:rs80358451EnsemblClinVar. 1 Natural variantⁱVAR_008768 582 T → P1 PublicationCorresponds to variant dbSNP:rs80358457EnsemblClinVar. 1 Natural variantⁱVAR_020711 598 T → A1 PublicationCorresponds to variant dbSNP:rs28897710EnsemblClinVar. 1 Natural variantⁱVAR_035436 599 S → F1 PublicationCorresponds to variant dbSNP:rs1046984EnsemblClinVar. 1 Natural variantⁱVAR_076440 606 P → L1 PublicationCorresponds to variant dbSNP:rs80358469EnsemblClinVar. 1 Natural variantⁱVAR_020712 613 L → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780646EnsemblClinVar. 1 Natural variantⁱVAR_005096 630 T → I in ovarian cancer. Corresponds to variant dbSNP:rs80358479EnsemblClinVar. 1 Natural variantⁱVAR_008769 707 D → Y. Corresponds to variant dbSNP:rs80358487EnsemblClinVar. 1 Natural variantⁱVAR_005097 728 D → A in BC. Corresponds to variant dbSNP:rs757577670EnsemblClinVar. 1 Natural variantⁱVAR_032719 729 I → M in BC. 1 PublicationCorresponds to variant dbSNP:rs397507620EnsemblClinVar. 1 Natural variantⁱVAR_008770 784 M → V3 PublicationsCorresponds to variant dbSNP:rs11571653EnsemblClinVar. 1 Natural variantⁱVAR_008771 886 N → I. Corresponds to variant dbSNP:rs80358526EnsemblClinVar. 1 Natural variantⁱVAR_018909 929 L → S1 PublicationCorresponds to variant dbSNP:rs2227943EnsemblClinVar. 1 Natural variantⁱVAR_008772 935 D → N in BC; unknown pathological significance. Corresponds to variant dbSNP:rs28897716EnsemblClinVar. 1 Natural variantⁱVAR_018910 976 S → F1 PublicationCorresponds to variant dbSNP:rs11571656EnsemblClinVar. 1 Natural variantⁱVAR_056752 982 I → L. Corresponds to variant dbSNP:rs28897717EnsemblClinVar. 1 Natural variantⁱVAR_018911 987 N → I1 PublicationCorresponds to variant dbSNP:rs2227944EnsemblClinVar. 1 Natural variantⁱVAR_005098 991 N → D Common polymorphism. 8 PublicationsCorresponds to variant dbSNP:rs1799944EnsemblClinVar. 1 Natural variantⁱVAR_020713 1036 E → K in BC; unknown pathological significance. 1 Publication 1 Natural variantⁱVAR_020714 1106 S → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1298550035EnsemblClinVar. 1 Natural variantⁱVAR_005099 1147 N → S1 PublicationCorresponds to variant dbSNP:rs1799951Ensembl. 1 Natural variantⁱVAR_032720 1172 S → L in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80358600EnsemblClinVar. 1 Natural variantⁱVAR_020715 1179 S → N in BC. 1 PublicationCorresponds to variant dbSNP:rs397507674EnsemblClinVar. 1 Natural variantⁱVAR_020716 1279 N → S2 PublicationsCorresponds to variant dbSNP:rs1060502384EnsemblClinVar. 1 Natural variantⁱVAR_008773 1286 Missing . 1 Natural variantⁱVAR_008774 1290 C → Y. Corresponds to variant dbSNP:rs41293485EnsemblClinVar. 1 Natural variantⁱVAR_005100 1302 Missing in BC. 1 Natural variantⁱVAR_008775 1414 T → M. Corresponds to variant dbSNP:rs70953664EnsemblClinVar. 1 Natural variantⁱVAR_008776 1420 D → Y6 PublicationsCorresponds to variant dbSNP:rs28897727EnsemblClinVar. 1 Natural variantⁱVAR_020717 1445 K → T in BC; unknown pathological significance. 1 Publication 1 Natural variantⁱVAR_008777 1513 D → N. Corresponds to variant dbSNP:rs80358687EnsemblClinVar. 1 Natural variantⁱVAR_032721 1522 L → F in one patient with BC. 1 PublicationCorresponds to variant dbSNP:rs397507729EnsemblClinVar. 1 Natural variantⁱVAR_020718 1524 F → V in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56386506EnsemblClinVar. 1 Natural variantⁱVAR_005101 1529 G → R in bladder cancer. Corresponds to variant dbSNP:rs28897728EnsemblClinVar. 1 Natural variantⁱVAR_056753 1542 V → M. Corresponds to variant dbSNP:rs28897729EnsemblClinVar. 1 Natural variantⁱVAR_018912 1561 H → N1 PublicationCorresponds to variant dbSNP:rs2219594EnsemblClinVar. 1 Natural variantⁱVAR_020719 1580 C → Y in BC; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs398122784EnsemblClinVar. 1 Natural variantⁱVAR_008778 1593 E → D1 PublicationCorresponds to variant dbSNP:rs80358703EnsemblClinVar. 1 Natural variantⁱVAR_056754 1643 V → A. Corresponds to variant dbSNP:rs28897731EnsemblClinVar. 1 Natural variantⁱVAR_020720 1679 T → I in BC. 1 Publication 1 Natural variantⁱVAR_032722 1690 K → N in BC. 1 PublicationCorresponds to variant dbSNP:rs56087561EnsemblClinVar. 1 Natural variantⁱVAR_032723 1730 N → Y in BC. 1 PublicationCorresponds to variant dbSNP:rs397507770EnsemblClinVar. 1 Natural variantⁱVAR_008779 1771 G → D in BC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs80358755EnsemblClinVar. 1 Natural variantⁱVAR_020721 1804 V → A in BC. 1 PublicationCorresponds to variant dbSNP:rs370252983EnsemblClinVar. 1 Natural variantⁱVAR_008780 1805 N → S. Corresponds to variant dbSNP:rs80358765EnsemblClinVar. 1 Natural variantⁱVAR_005102 1880 N → K Polymorphism; was originally thought to be linked to breast cancer. 2 PublicationsCorresponds to variant dbSNP:rs11571657EnsemblClinVar. 1 Natural variantⁱVAR_032724 1887 T → M in BC. 1 PublicationCorresponds to variant dbSNP:rs397507795EnsemblClinVar. 1 Natural variantⁱVAR_020722 1901 E → K in BC. 1 Publication 1 Natural variantⁱVAR_008781 1902 D → N. Corresponds to variant dbSNP:rs4987048EnsemblClinVar. 1 Natural variantⁱVAR_005103 1915 T → M May be a rare polymorphism; somatic mutation. 6 PublicationsCorresponds to variant dbSNP:rs4987117EnsemblClinVar. 1 Natural variantⁱVAR_020723 1929 I → V in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs79538375EnsemblClinVar. 1 Natural variantⁱVAR_056755 1979 S → R. Corresponds to variant dbSNP:rs28897737EnsemblClinVar. 1 Natural variantⁱVAR_032725 1988 V → I in one patient with esophageal carcinoma; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28897739EnsemblClinVar. 1 Natural variantⁱVAR_020724 2031 T → A in BC; unknown pathological significance. 1 Publication 1 Natural variantⁱVAR_005104 2034 R → C3 PublicationsCorresponds to variant dbSNP:rs1799954EnsemblClinVar. 1 Natural variantⁱVAR_032726 2044 G → V in one patient with BC. 1 PublicationCorresponds to variant dbSNP:rs56191579EnsemblClinVar. 1 Natural variantⁱVAR_020725 2072 S → C in BC. 1 PublicationCorresponds to variant dbSNP:rs80358862EnsemblClinVar. 1 Natural variantⁱVAR_008782 2074 H → N. Corresponds to variant dbSNP:rs34309943EnsemblClinVar. 1 Natural variantⁱVAR_008783 2089 E → D in BC. 1 Publication 1 Natural variantⁱVAR_020726 2094 Y → C in BC. 1 PublicationCorresponds to variant dbSNP:rs397507838EnsemblClinVar. 1 Natural variantⁱVAR_020727 2096 P → L in BC. 1 Publication 1 Natural variantⁱVAR_032727 2108 R → C1 PublicationCorresponds to variant dbSNP:rs55794205EnsemblClinVar. 1 Natural variantⁱVAR_061563 2116 H → R. Corresponds to variant dbSNP:rs55953736EnsemblClinVar. 1 Natural variantⁱVAR_020728 2118 V → L in BC; unknown pathological significance. 1 Publication 1 Natural variantⁱVAR_020729 2128 K → N in BC. 1 PublicationCorresponds to variant dbSNP:rs397507847EnsemblClinVar. 1 Natural variantⁱVAR_032728 2135 N → H in BC. 1 PublicationCorresponds to variant dbSNP:rs80358876EnsemblClinVar. 1 Natural variantⁱVAR_008784 2138 V → F1 PublicationCorresponds to variant dbSNP:rs11571659EnsemblClinVar. 1 Natural variantⁱVAR_018913 2162 K → R1 PublicationCorresponds to variant dbSNP:rs11571660EnsemblClinVar. 1 Natural variantⁱVAR_032729 2222 Y → C in BC. 1 PublicationCorresponds to variant dbSNP:rs397507875EnsemblClinVar. 1 Natural variantⁱVAR_056756 2238 D → E. Corresponds to variant dbSNP:rs28897742EnsemblClinVar. 1 Natural variantⁱVAR_005105 2274 G → V in BC. Corresponds to variant dbSNP:rs55712212EnsemblClinVar. 1 Natural variantⁱVAR_020730 2275 E → G in BC; unknown pathological significance. 1 Publication 1 Natural variantⁱVAR_020731 2293 F → L in BC; unknown pathological significance. 1 PublicationCorresponds to variants dbSNP:rs80358912 and dbSNP:rs1381512588EnsemblClinVarEnsembl. 1 Natural variantⁱVAR_032730 2336 R → H in FANCD1; affects protein splicing and expression; decreases homologous recombination-mediated DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs28897743EnsemblClinVar. 1 Natural variantⁱVAR_056757 2336 R → Q. Corresponds to variant dbSNP:rs28897743EnsemblClinVar. 1 Natural variantⁱVAR_020732 2353 G → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80358935EnsemblClinVar. 1 Natural variantⁱVAR_005106 2415 H → N in BC. 1 Publication 1 Natural variantⁱVAR_005107 2421 Q → H in BC. 1 Natural variantⁱVAR_018914 2440 H → R Polymorphism; no effect on homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs4986860EnsemblClinVar. 1 Natural variantⁱVAR_056758 2447 N → D. Corresponds to variant dbSNP:rs4986859EnsemblClinVar. 1 Natural variantⁱVAR_032731 2456 Q → E in BC. 1 PublicationCorresponds to variant dbSNP:rs397507912EnsemblClinVar. 1 Natural variantⁱVAR_008785 2466 A → V Polymorphism; was originally thought to be linked to ovarian cancer; no effect on homology-directed repair activity. 6 Publications 1 Natural variantⁱVAR_008786 2480 L → V. Corresponds to variant dbSNP:rs80358965EnsemblClinVar. 1 Natural variantⁱVAR_020733 2488 R → K in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80358968EnsemblClinVar. 1 Natural variantⁱVAR_008787 2490 I → T Polymorphism; no effect on homologous recombination-mediated DNA repair; no effect on interaction with SEM1. 2 PublicationsCorresponds to variant dbSNP:rs11571707EnsemblClinVar. 1 Natural variantⁱVAR_063911 2502 R → C in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs55716624EnsemblClinVar. 1 Natural variantⁱVAR_008788 2502 R → H in ovarian cancer; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56070345EnsemblClinVar. 1 Natural variantⁱVAR_032732 2510 L → P in FANCD1; hypersensitive to DNA damage; disrupts interaction with SEM1; decreased homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs80358979EnsemblClinVar. 1 Natural variantⁱVAR_008789 2515 T → I in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28897744EnsemblClinVar. 1 Natural variantⁱVAR_032733 2626 W → C in FANCD1; hypersensitive to DNA damage; reduced homology-directed repair activity; no effect on interaction with SEM1. 4 PublicationsCorresponds to variant dbSNP:rs80359013EnsemblClinVar. 1 Natural variantⁱVAR_063912 2627 I → F in BC; unknown pathological significance; reduced homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs80359014EnsemblClinVar. 1 Natural variantⁱVAR_063913 2653 L → P in BC; unknown pathological significance; reduced homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs80359022EnsemblClinVar. 1 Natural variantⁱVAR_063914 2659 R → K in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80359027EnsemblClinVar. 1 Natural variantⁱVAR_063915 2663 E → V Could be associated with cancer susceptibility; major splicing aberration identified with this mutant; multifactorial likelihood analysis provides evidence for pathogenicity. 2 PublicationsCorresponds to variant dbSNP:rs80359031EnsemblClinVar. 1 Natural variantⁱVAR_056759 2686 L → P. Corresponds to variant dbSNP:rs28897746EnsemblClinVar. 1 Natural variantⁱVAR_020734 2706 N → S1 PublicationCorresponds to variant dbSNP:rs80359055EnsemblClinVar. 1 Natural variantⁱVAR_018661 2722 T → R in BC; reduced homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs80359062EnsemblClinVar. 1 Natural variantⁱVAR_063916 2723 D → G in BC; has defective function consistent with pathogenicity; major splicing aberration identified with this mutant; reduced homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs41293513EnsemblClinVar. 1 Natural variantⁱVAR_020735 2723 D → H in BC; unknown pathological significance; disrupts interaction with SEM1 promoting interaction with XPO1 and BRCA2 cytoplasmic localization; in heterozygous state promotes RAD51 cytoplasmic localization; reduced homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs41293511EnsemblClinVar. 1 Natural variantⁱVAR_020736 2728 V → I in BC. 3 PublicationsCorresponds to variant dbSNP:rs28897749EnsemblClinVar. 1 Natural variantⁱVAR_020737 2729 K → N in BC; unknown pathological significance; no effect on homologous recombination-mediated DNA repair; no effect on interaction with SEM1. 3 PublicationsCorresponds to variant dbSNP:rs80359065EnsemblClinVar. 1 Natural variantⁱVAR_063917 2748 G → D in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80359071EnsemblClinVar. 1 Natural variantⁱVAR_008790 2787 R → H in ovarian cancer and BC; somatic mutation; unknown pathological significance; small decrease of homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs80359078EnsemblClinVar. 1 Natural variantⁱVAR_056760 2792 L → P in BC; unknown pathological significance; decreased homology-directed repair activity. 1 PublicationCorresponds to variant dbSNP:rs28897751EnsemblClinVar. 1 Natural variantⁱVAR_020738 2793 G → R in BC; unknown pathological significance; decreased homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs80359082EnsemblClinVar. 1 Natural variantⁱVAR_018915 2835 S → P1 PublicationCorresponds to variant dbSNP:rs11571746EnsemblClinVar. 1 Natural variantⁱVAR_032734 2842 R → C in one patient with esophageal carcinoma; somatic mutation; decreased homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs80359104EnsemblClinVar. 1 Natural variantⁱVAR_018916 2856 E → A in BC; unknown pathological significance; no effect on homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs11571747EnsemblClinVar. 1 Natural variantⁱVAR_008791 2944 I → F2 PublicationsCorresponds to variant dbSNP:rs4987047EnsemblClinVar. 1 Natural variantⁱVAR_020739 2950 K → N in BC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs28897754EnsemblClinVar. 1 Natural variantⁱVAR_008792 2951 A → T in BC; unknown pathological significance; no effect on homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs11571769EnsemblClinVar. 1 Natural variantⁱVAR_008793 2969 V → M. Corresponds to variant dbSNP:rs59004709EnsemblClinVar. 1 Natural variantⁱVAR_020740 3013 T → I in BC; unknown pathological significance; no effect on homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs28897755EnsemblClinVar. 1 Natural variantⁱVAR_063918 3052 R → W in BC; has defective function consistent with pathogenicity; multifactorial likelihood analysis provides evidence for pathogenicity; reduced homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs45580035EnsemblClinVar. 1 Natural variantⁱVAR_020741 3063 P → S in a patient with ovarian cancer; unknown pathological significance; no effect on homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs80359176EnsemblClinVar. 1 Natural variantⁱVAR_020742 3076 G → E in BC; also found in pancreatic cancer; decreased homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs80359187EnsemblClinVar. 1 Natural variantⁱVAR_005108 3095 D → E in BC; unknown pathological significance; reduced homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs80359198EnsemblClinVar. 1 Natural variantⁱVAR_008794 3098 Y → H in BC and ovarian cancer; unknown pathological significance; no effect on homology-directed repair activity. 3 PublicationsCorresponds to variant dbSNP:rs41293521EnsemblClinVar. 1 Natural variantⁱVAR_056761 3101 L → R. Corresponds to variant dbSNP:rs28897758EnsemblClinVar. 1 Natural variantⁱVAR_005109 3103 I → M in melanoma. Corresponds to variant dbSNP:rs80359204EnsemblClinVar. 1 Natural variantⁱVAR_005110 3118 M → T in BC. 1 PublicationCorresponds to variant dbSNP:rs56204128EnsemblClinVar. 1 Natural variantⁱVAR_020743 3124 N → I in BC; reduced homology-directed repair activity. 2 PublicationsCorresponds to variant dbSNP:rs28897759EnsemblClinVar. 1 Natural variantⁱVAR_020744 3196 K → E in BC. 1 PublicationCorresponds to variant dbSNP:rs80359228EnsemblClinVar. 1 Natural variantⁱVAR_018917 3244 V → I1 PublicationCorresponds to variant dbSNP:rs11571831EnsemblClinVar. 1 Natural variantⁱVAR_008795 3257 K → R. Corresponds to variant dbSNP:rs55847618EnsemblClinVar. 1 Natural variantⁱVAR_008796 3276 R → S. Corresponds to variant dbSNP:rs80359245EnsemblClinVar. 1 Natural variantⁱVAR_032735 3300 P → S in one patient with esophageal carcinoma. 1 PublicationCorresponds to variant dbSNP:rs770868371EnsemblClinVar. 1 Natural variantⁱVAR_005111 3357 T → R in BC. Corresponds to variant dbSNP:rs80358388EnsemblClinVar. 1 Natural variantⁱVAR_020745 3374 T → I1 PublicationCorresponds to variant dbSNP:rs56309455EnsemblClinVar. 1 Natural variantⁱVAR_005112 3412 I → V Polymorphism; was originally thought to be associated with breast cancer. 8 PublicationsCorresponds to variant dbSNP:rs1801426EnsemblClinVar. 1