1 |
AR |
NM_000044.6(AR):c.2222C>G (p.Ser741Cys) |
SNV |
Pathogenic
|
9860 |
rs137852601 |
GRCh37: X:66937368-66937368 GRCh38: X:67717526-67717526 |
2 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) |
SNV |
Pathogenic
|
17816 |
rs78310315 |
GRCh37: 15:51503207-51503207 GRCh38: 15:51211010-51211010 |
3 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.743+2T>C |
SNV |
Pathogenic
|
17817 |
rs786205107 |
GRCh37: 15:51510736-51510736 GRCh38: 15:51218539-51218539 |
4 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) |
SNV |
Pathogenic
|
17818 |
rs121434536 |
GRCh37: 15:51504657-51504657 GRCh38: 15:51212460-51212460 |
5 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) |
DEL |
Pathogenic
|
17819 |
rs786205108 |
GRCh37: 15:51504556-51504556 GRCh38: 15:51212359-51212359 |
6 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.296+1G>A |
SNV |
Pathogenic
|
17820 |
rs786205109 |
GRCh37: 15:51529055-51529055 GRCh38: 15:51236858-51236858 |
7 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) |
SNV |
Pathogenic
|
17821 |
rs80051519 |
GRCh37: 15:51504686-51504686 GRCh38: 15:51212489-51212489 |
8 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.629-3C>A |
SNV |
Pathogenic
|
17823 |
rs786205110 |
GRCh37: 15:51510855-51510855 GRCh38: 15:51218658-51218658 |
9 |
CYP19A1 |
CYP19A1, INV, CGNL1 PROMOTER |
VAR |
Pathogenic
|
17824 |
|
GRCh37: GRCh38: |
10 |
CYP19A1 |
CYP19A1, INV, TMOD3 PROMOTER |
VAR |
Pathogenic
|
17825 |
|
GRCh37: GRCh38: |
11 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) |
SNV |
Pathogenic
|
17826 |
rs121434538 |
GRCh37: 15:51514546-51514546 GRCh38: 15:51222349-51222349 |
12 |
CYP19A1 |
CYP19A1, CYP19A1/TRPM7 FUSION |
VAR |
Pathogenic
|
17827 |
|
GRCh37: GRCh38: |
13 |
AR |
NM_000044.6(AR):c.2449+5G>T |
SNV |
Pathogenic
|
9851 |
rs1602278831 |
GRCh37: X:66941810-66941810 GRCh38: X:67721968-67721968 |
14 |
AR |
NM_000044.6(AR):c.2423T>C (p.Met808Thr) |
SNV |
Pathogenic
|
9847 |
rs137852592 |
GRCh37: X:66941779-66941779 GRCh38: X:67721937-67721937 |
15 |
AR |
NM_000044.6(AR):c.521T>G (p.Leu174Ter) |
SNV |
Pathogenic
|
9845 |
rs137852590 |
GRCh37: X:66765509-66765509 GRCh38: X:67545667-67545667 |
16 |
AR |
NM_000044.6(AR):c.1769-11T>A |
SNV |
Pathogenic
|
9844 |
|
GRCh37: X:66905841-66905841 GRCh38: X:67685999-67685999 |
17 |
AR |
NM_000044.6(AR):c.4G>A (p.Glu2Lys) |
SNV |
Pathogenic
|
9841 |
rs104894742 |
GRCh37: X:66764992-66764992 GRCh38: X:67545150-67545150 |
18 |
AR |
NM_000044.6(AR):c.2599G>T (p.Val867Leu) |
SNV |
Pathogenic
|
9822 |
rs137852564 |
GRCh37: X:66942818-66942818 GRCh38: X:67722976-67722976 |
19 |
AR |
NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) |
SNV |
Pathogenic
|
9810 |
rs137852567 |
GRCh37: X:66937437-66937437 GRCh38: X:67717595-67717595 |
20 |
AR |
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) |
SNV |
Pathogenic
|
9830 |
rs137852577 |
GRCh37: X:66942740-66942740 GRCh38: X:67722898-67722898 |
21 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) |
DUP |
Pathogenic
|
653853 |
rs769461019 |
GRCh37: 15:51504721-51504722 GRCh38: 15:51212524-51212525 |
22 |
AR |
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) |
SNV |
Pathogenic
|
9813 |
rs137852569 |
GRCh37: X:66905872-66905872 GRCh38: X:67686030-67686030 |
23 |
AR |
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) |
SNV |
Pathogenic
|
9820 |
rs137852573 |
GRCh37: X:66905906-66905906 GRCh38: X:67686064-67686064 |
24 |
AR |
NM_000044.6(AR):c.2522G>A (p.Arg841His) |
SNV |
Pathogenic
|
9829 |
rs9332969 |
GRCh37: X:66942741-66942741 GRCh38: X:67722899-67722899 |
25 |
AR |
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) |
SNV |
Pathogenic
|
9846 |
rs137852591 |
GRCh37: X:66941751-66941751 GRCh38: X:67721909-67721909 |
26 |
AR |
NM_000044.6(AR):c.2231G>T (p.Gly744Val) |
SNV |
Pathogenic
|
9857 |
rs137852600 |
GRCh37: X:66937377-66937377 GRCh38: X:67717535-67717535 |
27 |
AR |
NM_000044.6(AR):c.2599G>A (p.Val867Met) |
SNV |
Pathogenic
|
9806 |
rs137852564 |
GRCh37: X:66942818-66942818 GRCh38: X:67722976-67722976 |
28 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) |
SNV |
Pathogenic
|
1212857 |
|
GRCh37: 15:51520084-51520084 GRCh38: 15:51227887-51227887 |
29 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.469del (p.Val158fs) |
DEL |
Pathogenic
|
17822 |
|
GRCh37: 15:51514705-51514705 GRCh38: 15:51222508-51222508 |
30 |
AR |
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) |
SNV |
Pathogenic
|
9861 |
rs1800053 |
GRCh37: X:66931295-66931295 GRCh38: X:67711453-67711453 |
31 |
AR |
NM_000044.6(AR):c.2567G>A (p.Arg856His) |
SNV |
Pathogenic
|
9823 |
rs9332971 |
GRCh37: X:66942786-66942786 GRCh38: X:67722944-67722944 |
32 |
AR |
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) |
SNV |
Pathogenic
Benign
|
216890 |
rs201934623 |
GRCh37: X:66766162-66766162 GRCh38: X:67546320-67546320 |
33 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) |
SNV |
Pathogenic/Likely Pathogenic
|
17815 |
rs121434534 |
GRCh37: 15:51503214-51503214 GRCh38: 15:51211017-51211017 |
34 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.297-1G>C |
SNV |
Likely Pathogenic
|
859794 |
rs768157788 |
GRCh37: 15:51520131-51520131 GRCh38: 15:51227934-51227934 |
35 |
AR |
NM_000044.6(AR):c.2056G>C (p.Val686Leu) |
SNV |
Likely Pathogenic
|
1699192 |
|
GRCh37: X:66931414-66931414 GRCh38: X:67711572-67711572 |
36 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.1263+1G>T |
SNV |
Likely Pathogenic
|
930859 |
rs2031075939 |
GRCh37: 15:51504516-51504516 GRCh38: 15:51212319-51212319 |
37 |
AR |
NM_000044.6(AR):c.2047C>T (p.Pro683Ser) |
SNV |
Likely Pathogenic
|
838128 |
rs2076094025 |
GRCh37: X:66931405-66931405 GRCh38: X:67711563-67711563 |
38 |
AR |
NM_000044.6(AR):c.1768+2T>C |
SNV |
Likely Pathogenic
|
448902 |
rs1555982894 |
GRCh37: X:66863251-66863251 GRCh38: X:67643409-67643409 |
39 |
LOC109504725, AR |
NM_000044.6(AR):c.173A>T (p.Gln58Leu) |
SNV |
Uncertain Significance
|
402390 |
rs200185441 |
GRCh37: X:66765161-66765161 GRCh38: X:67545319-67545319 |
40 |
CYP19A1 |
NM_000103.4(CYP19A1):c.-39+1G>A |
SNV |
Uncertain Significance
|
631737 |
rs956997586 |
GRCh37: 15:51630691-51630691 GRCh38: 15:51338494-51338494 |
41 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.*2126G>A |
SNV |
Uncertain Significance
|
884245 |
rs977456146 |
GRCh37: 15:51500879-51500879 GRCh38: 15:51208682-51208682 |
42 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.*2086G>A |
SNV |
Uncertain Significance
|
884246 |
rs989880661 |
GRCh37: 15:51500919-51500919 GRCh38: 15:51208722-51208722 |
43 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.*2067T>G |
SNV |
Uncertain Significance
|
884247 |
rs1042269504 |
GRCh37: 15:51500938-51500938 GRCh38: 15:51208741-51208741 |
44 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.*240C>A |
SNV |
Uncertain Significance
|
884314 |
rs1379933476 |
GRCh37: 15:51502765-51502765 GRCh38: 15:51210568-51210568 |
45 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.*125T>C |
SNV |
Uncertain Significance
|
884315 |
rs781742620 |
GRCh37: 15:51502880-51502880 GRCh38: 15:51210683-51210683 |
46 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.*78G>T |
SNV |
Uncertain Significance
|
884316 |
rs28757206 |
GRCh37: 15:51502927-51502927 GRCh38: 15:51210730-51210730 |
47 |
CYP19A1 |
NM_000103.4(CYP19A1):c.-39+14646C>T |
SNV |
Uncertain Significance
|
884372 |
rs931758970 |
GRCh37: 15:51616046-51616046 GRCh38: 15:51323849-51323849 |
48 |
CYP19A1 |
NM_000103.4(CYP19A1):c.-39+14640A>G |
SNV |
Uncertain Significance
|
884373 |
rs376711291 |
GRCh37: 15:51616052-51616052 GRCh38: 15:51323855-51323855 |
49 |
LOC110386947, CYP19A1 |
NM_000103.4(CYP19A1):c.-118G>A |
SNV |
Uncertain Significance
|
884374 |
rs1053290768 |
GRCh37: 15:51630771-51630771 GRCh38: 15:51338574-51338574 |
50 |
MIR4713HG, CYP19A1, PIRC66 |
NM_000103.4(CYP19A1):c.*1889A>T |
SNV |
Uncertain Significance
|
886275 |
rs762427390 |
GRCh37: 15:51501116-51501116 GRCh38: 15:51208919-51208919 |