1 |
PTH1R |
NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln) |
SNV |
Pathogenic
|
13744 |
rs398122843 |
GRCh37: 3:46943287-46943287 GRCh38: 3:46901797-46901797 |
2 |
PTH1R |
NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu) |
SNV |
Pathogenic
|
13745 |
rs121434599 |
GRCh37: 3:46939426-46939426 GRCh38: 3:46897936-46897936 |
3 |
PTH1R |
NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter) |
SNV |
Pathogenic
|
13750 |
rs121434604 |
GRCh37: 3:46937356-46937356 GRCh38: 3:46895866-46895866 |
4 |
PTH1R |
NM_000316.3(PTH1R):c.1049+29C>T |
SNV |
Pathogenic
|
13751 |
|
GRCh37: 3:46942604-46942604 GRCh38: 3:46901114-46901114 |
5 |
PTH1R |
NM_000316.3(PTH1R):c.1093del (p.Val365fs) |
DEL |
Pathogenic
|
13746 |
|
GRCh37: 3:46942946-46942946 GRCh38: 3:46901456-46901456 |
6 |
PTH1R |
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) |
SNV |
Uncertain Significance
|
345580 |
rs148414587 |
GRCh37: 3:46937272-46937272 GRCh38: 3:46895782-46895782 |
7 |
PTH1R |
NM_000316.3(PTH1R):c.313+4C>T |
SNV |
Uncertain Significance
|
345582 |
rs200207404 |
GRCh37: 3:46937363-46937363 GRCh38: 3:46895873-46895873 |
8 |
PTH1R |
NM_000316.3(PTH1R):c.75+9C>T |
SNV |
Uncertain Significance
|
345575 |
rs200710310 |
GRCh37: 3:46925133-46925133 GRCh38: 3:46883643-46883643 |
9 |
PTH1R |
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) |
SNV |
Uncertain Significance
|
345594 |
rs758673796 |
GRCh37: 3:46944059-46944059 GRCh38: 3:46902569-46902569 |
10 |
PTH1R |
NM_000316.3(PTH1R):c.638+7G>A |
SNV |
Uncertain Significance
|
345590 |
rs886058584 |
GRCh37: 3:46939969-46939969 GRCh38: 3:46898479-46898479 |
11 |
PTH1R |
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) |
SNV |
Uncertain Significance
|
345591 |
rs200475872 |
GRCh37: 3:46940834-46940834 GRCh38: 3:46899344-46899344 |
12 |
PTH1R |
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) |
SNV |
Uncertain Significance
|
345593 |
rs763816214 |
GRCh37: 3:46943291-46943291 GRCh38: 3:46901801-46901801 |
13 |
PTH1R |
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) |
SNV |
Uncertain Significance
|
345578 |
rs568635759 |
GRCh37: 3:46935465-46935465 GRCh38: 3:46893975-46893975 |
14 |
PTH1R |
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) |
SNV |
Uncertain Significance
|
345601 |
rs138646765 |
GRCh37: 3:46945008-46945008 GRCh38: 3:46903518-46903518 |
15 |
PTH1R |
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) |
SNV |
Uncertain Significance
|
345599 |
rs199740724 |
GRCh37: 3:46944950-46944950 GRCh38: 3:46903460-46903460 |
16 |
PTH1R |
NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) |
SNV |
Uncertain Significance
|
902323 |
rs771579145 |
GRCh37: 3:46945059-46945059 GRCh38: 3:46903569-46903569 |
17 |
PTH1R |
NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) |
SNV |
Uncertain Significance
|
903131 |
rs151330461 |
GRCh37: 3:46943321-46943321 GRCh38: 3:46901831-46901831 |
18 |
PTH1R |
NM_000316.3(PTH1R):c.1212-10G>A |
SNV |
Uncertain Significance
|
733286 |
rs202090342 |
GRCh37: 3:46944006-46944006 GRCh38: 3:46902516-46902516 |
19 |
PTH1R |
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) |
SNV |
Uncertain Significance
|
345598 |
rs749111054 |
GRCh37: 3:46944791-46944791 GRCh38: 3:46903301-46903301 |
20 |
PTH1R |
NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) |
SNV |
Uncertain Significance
|
345588 |
rs762939698 |
GRCh37: 3:46939612-46939612 GRCh38: 3:46898122-46898122 |
21 |
PTH1R |
NM_000316.3(PTH1R):c.-166G>A |
SNV |
Uncertain Significance
|
345573 |
rs886058583 |
GRCh37: 3:46919273-46919273 GRCh38: 3:46877783-46877783 |
22 |
PTH1R |
NM_000316.3(PTH1R):c.57C>G (p.Leu19=) |
SNV |
Uncertain Significance
|
899408 |
rs780469309 |
GRCh37: 3:46925106-46925106 GRCh38: 3:46883616-46883616 |
23 |
PTH1R |
NM_000316.3(PTH1R):c.449G>A (p.Arg150His) |
SNV |
Uncertain Significance
|
899444 |
rs73067029 |
GRCh37: 3:46939588-46939588 GRCh38: 3:46898098-46898098 |
24 |
PTH1R |
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) |
SNV |
Uncertain Significance
|
64398 |
rs387907460 |
GRCh37: 3:46944108-46944108 GRCh38: 3:46902618-46902618 |
25 |
PTH1R |
NM_000316.3(PTH1R):c.1330G>A (p.Glu444Lys) |
SNV |
Uncertain Significance
|
899513 |
rs2032196022 |
GRCh37: 3:46944134-46944134 GRCh38: 3:46902644-46902644 |
26 |
PTH1R |
NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) |
SNV |
Uncertain Significance
|
900527 |
rs199670451 |
GRCh37: 3:46935458-46935458 GRCh38: 3:46893968-46893968 |
27 |
PTH1R |
NM_000316.3(PTH1R):c.638+11C>A |
SNV |
Uncertain Significance
|
900571 |
rs1172297627 |
GRCh37: 3:46939973-46939973 GRCh38: 3:46898483-46898483 |
28 |
PTH1R |
NM_000316.3(PTH1R):c.662A>G (p.Tyr221Cys) |
SNV |
Uncertain Significance
|
900572 |
rs200817639 |
GRCh37: 3:46940175-46940175 GRCh38: 3:46898685-46898685 |
29 |
PTH1R |
NM_000316.3(PTH1R):c.691A>G (p.Met231Val) |
SNV |
Uncertain Significance
|
900573 |
rs1353904110 |
GRCh37: 3:46940204-46940204 GRCh38: 3:46898714-46898714 |
30 |
PTH1R |
NM_000316.3(PTH1R):c.827C>T (p.Ala276Val) |
SNV |
Uncertain Significance
|
902259 |
rs2031934502 |
GRCh37: 3:46940340-46940340 GRCh38: 3:46898850-46898850 |
31 |
PTH1R |
NM_000316.3(PTH1R):c.1048G>A (p.Gly350Arg) |
SNV |
Uncertain Significance
|
902260 |
rs201363790 |
GRCh37: 3:46942574-46942574 GRCh38: 3:46901084-46901084 |
32 |
PTH1R |
NM_000316.3(PTH1R):c.1732C>T (p.Pro578Ser) |
SNV |
Uncertain Significance
|
902324 |
rs2032267228 |
GRCh37: 3:46945096-46945096 GRCh38: 3:46903606-46903606 |
33 |
PTH1R |
NM_000316.3(PTH1R):c.-64C>A |
SNV |
Uncertain Significance
|
903019 |
rs2030528606 |
GRCh37: 3:46922593-46922593 GRCh38: 3:46881103-46881103 |
34 |
PTH1R |
NM_000316.3(PTH1R):c.408T>C (p.Tyr136=) |
SNV |
Uncertain Significance
|
903068 |
rs2031851380 |
GRCh37: 3:46939439-46939439 GRCh38: 3:46897949-46897949 |
35 |
PTH1R |
NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp) |
SNV |
Uncertain Significance
|
903189 |
rs139381461 |
GRCh37: 3:46945102-46945102 GRCh38: 3:46903612-46903612 |
36 |
PTH1R |
NM_000316.3(PTH1R):c.*7G>A |
SNV |
Likely Benign
|
345602 |
rs199649688 |
GRCh37: 3:46945153-46945153 GRCh38: 3:46903663-46903663 |
37 |
PTH1R |
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) |
SNV |
Likely Benign
|
345595 |
rs142921504 |
GRCh37: 3:46944109-46944109 GRCh38: 3:46902619-46902619 |
38 |
PTH1R |
NM_000316.3(PTH1R):c.771C>A (p.Thr257=) |
SNV |
Likely Benign
|
750608 |
rs201016660 |
GRCh37: 3:46940284-46940284 GRCh38: 3:46898794-46898794 |
39 |
PTH1R |
NM_000316.3(PTH1R):c.375G>A (p.Glu125=) |
SNV |
Likely Benign
|
345586 |
rs138339848 |
GRCh37: 3:46939406-46939406 GRCh38: 3:46897916-46897916 |
40 |
PTH1R |
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) |
SNV |
Likely Benign
|
345577 |
rs141466964 |
GRCh37: 3:46935449-46935449 GRCh38: 3:46893959-46893959 |
41 |
PTH1R |
NM_000316.3(PTH1R):c.-37G>A |
SNV |
Likely Benign
|
345574 |
rs201663714 |
GRCh37: 3:46925013-46925013 GRCh38: 3:46883523-46883523 |
42 |
PTH1R |
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) |
SNV |
Likely Benign
|
345585 |
rs143692596 |
GRCh37: 3:46939388-46939388 GRCh38: 3:46897898-46897898 |
43 |
PTH1R |
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) |
SNV |
Likely Benign
|
345587 |
rs143863124 |
GRCh37: 3:46939575-46939575 GRCh38: 3:46898085-46898085 |
44 |
PTH1R |
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) |
SNV |
Likely Benign
|
281247 |
rs121434601 |
GRCh37: 3:46939587-46939587 GRCh38: 3:46898097-46898097 |
45 |
PTH1R |
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) |
SNV |
Likely Benign
|
345581 |
rs41290646 |
GRCh37: 3:46937345-46937345 GRCh38: 3:46895855-46895855 |
46 |
PTH1R |
NM_000316.3(PTH1R):c.1395+15G>A |
SNV |
Benign
|
345597 |
rs151077141 |
GRCh37: 3:46944295-46944295 GRCh38: 3:46902805-46902805 |
47 |
PTH1R |
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) |
SNV |
Benign
|
345600 |
rs77048718 |
GRCh37: 3:46945000-46945000 GRCh38: 3:46903510-46903510 |
48 |
PTH1R |
NM_000316.3(PTH1R):c.543+14T>C |
SNV |
Benign
|
345589 |
rs114449768 |
GRCh37: 3:46939696-46939696 GRCh38: 3:46898206-46898206 |
49 |
PTH1R |
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) |
SNV |
Benign
|
345579 |
rs116789130 |
GRCh37: 3:46937262-46937262 GRCh38: 3:46895772-46895772 |
50 |
PTH1R |
NM_000316.3(PTH1R):c.75+12G>A |
SNV |
Benign
|
345576 |
rs200603325 |
GRCh37: 3:46925136-46925136 GRCh38: 3:46883646-46883646 |