1 |
MKKS |
NM_170784.3(MKKS):c.431_441del (p.Phe144fs) |
DEL |
Pathogenic
|
21670 |
rs113994195 |
GRCh37: 20:10393722-10393732 GRCh38: 20:10413074-10413084 |
2 |
MKKS |
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) |
DUP |
Pathogenic
|
21672 |
rs113994196 |
GRCh37: 20:10393286-10393287 GRCh38: 20:10412638-10412639 |
3 |
BBS1 |
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) |
DEL |
Pathogenic
|
21708 |
rs113994178 |
GRCh37: 11:66278117-66278156 GRCh38: 11:66510646-66510685 |
4 |
BBS4 |
NM_033028.5(BBS4):c.406-2A>C |
SNV |
Pathogenic
|
21730 |
rs113994191 |
GRCh37: 15:73015133-73015133 GRCh38: 15:72722792-72722792 |
5 |
BBS4 |
NM_033028.5(BBS4):c.77-216del |
DEL |
Pathogenic
|
9146 |
rs113994189 |
GRCh37: 15:73001821-73001821 GRCh38: 15:72709480-72709480 |
6 |
ARL6 |
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) |
SNV |
Pathogenic
|
68064 |
rs137854907 |
GRCh37: 3:97503816-97503816 GRCh38: 3:97784972-97784972 |
7 |
BBS12 |
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) |
SNV |
Pathogenic
|
68065 |
rs151344630 |
GRCh37: 4:123663370-123663370 GRCh38: 4:122742215-122742215 |
8 |
BBS7 |
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) |
INDEL |
Pathogenic
|
216137 |
rs863224529 |
GRCh37: 4:122749327-122749329 GRCh38: 4:121828172-121828174 |
9 |
BBS9 |
NM_198428.3(BBS9):c.956del (p.Thr319fs) |
DEL |
Pathogenic
|
266086 |
rs886039799 |
GRCh37: 7:33313508-33313508 GRCh38: 7:33273896-33273896 |
10 |
BBS4 |
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) |
SNV |
Pathogenic
|
266089 |
rs886039802 |
GRCh37: 15:73004600-73004600 GRCh38: 15:72712259-72712259 |
11 |
BBS2 |
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del |
DEL |
Pathogenic
|
266085 |
|
GRCh37: 16:56519651-56539861 GRCh38: 16:56485739-56505949 |
12 |
BBS4 |
NM_033028.5(BBS4):c.1226del (p.Ser409fs) |
DEL |
Pathogenic
|
266087 |
rs886039800 |
GRCh37: 15:73028285-73028285 GRCh38: 15:72735944-72735944 |
13 |
BBS9 |
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) |
SNV |
Pathogenic
|
266106 |
rs775081992 |
GRCh37: 7:33192423-33192423 GRCh38: 7:33152811-33152811 |
14 |
BBS4 |
NM_033028.4:r.118_261del |
DEL |
Pathogenic
|
266081 |
|
GRCh37: GRCh38: |
15 |
BBS9 |
NM_198428.3(BBS9):c.2115+1G>A |
SNV |
Pathogenic
|
266088 |
rs886039801 |
GRCh37: 7:33427757-33427757 GRCh38: 7:33388145-33388145 |
16 |
BBS7 |
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) |
SNV |
Pathogenic
|
3016 |
rs119466002 |
GRCh37: 4:122775945-122775945 GRCh38: 4:121854790-121854790 |
17 |
NPHP1 |
GRCh37/hg19 2q13(chr2:110875689-110967529) |
CN LOSS |
Pathogenic
|
431747 |
|
GRCh37: 2:110875689-110967529 GRCh38: |
18 |
ASTN2, TRIM32 |
NC_000009.12:g.(?_116697723)_(116699724_?)del |
DEL |
Pathogenic
|
462941 |
|
GRCh37: 9:119460002-119462003 GRCh38: 9:116697723-116699724 |
19 |
BBS2 |
NC_000016.9:g.(?_56518653)_(56545216_?)del |
DEL |
Pathogenic
|
462944 |
|
GRCh37: 16:56518653-56545216 GRCh38: |
20 |
CEP19 |
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) |
DUP |
Pathogenic
|
430642 |
rs1553794304 |
GRCh37: 3:196434731-196434732 GRCh38: 3:196707860-196707861 |
21 |
BBS10 |
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) |
DEL |
Pathogenic
|
496471 |
rs1555202584 |
GRCh37: 12:76740088-76740088 GRCh38: 12:76346308-76346308 |
22 |
BBS12 |
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) |
SNV |
Pathogenic
|
531820 |
rs1269565757 |
GRCh37: 4:123664422-123664422 GRCh38: 4:122743267-122743267 |
23 |
BBS7 |
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) |
SNV |
Pathogenic
|
531822 |
rs991365297 |
GRCh37: 4:122756397-122756397 GRCh38: 4:121835242-121835242 |
24 |
BBS7 |
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) |
INSERT |
Pathogenic
|
531829 |
rs1553933472 |
GRCh37: 4:122776702-122776703 GRCh38: 4:121855547-121855548 |
25 |
BBS1 |
NM_024649.5(BBS1):c.595_598del (p.Val199fs) |
DEL |
Pathogenic
|
531836 |
rs1555047409 |
GRCh37: 11:66287089-66287092 GRCh38: 11:66519618-66519621 |
26 |
BBS7 |
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) |
MICROSAT |
Pathogenic
|
285609 |
rs773139166 |
GRCh37: 4:122766826-122766827 GRCh38: 4:121845671-121845672 |
27 |
WDPCP |
NC_000002.12:g.(?_63378386)_(63404657_?)del |
DEL |
Pathogenic
|
583791 |
|
GRCh37: 2:63605521-63631792 GRCh38: 2:63378386-63404657 |
28 |
MKKS |
NC_000020.11:g.(?_10405227)_(10413534_?)del |
DEL |
Pathogenic
|
584330 |
|
GRCh37: 20:10385875-10394182 GRCh38: 20:10405227-10413534 |
29 |
BBS7 |
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) |
SNV |
Pathogenic
|
625451 |
rs1560658189 |
GRCh37: 4:122774197-122774197 GRCh38: 4:121853042-121853042 |
30 |
BBS5 |
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) |
SNV |
Pathogenic
|
6161 |
rs121908581 |
GRCh37: 2:170344321-170344321 GRCh38: 2:169487811-169487811 |
31 |
MKKS |
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) |
DUP |
Pathogenic
|
642430 |
rs1600849412 |
GRCh37: 20:10393987-10393988 GRCh38: 20:10413339-10413340 |
32 |
BBS12 |
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) |
INSERT |
Pathogenic
|
557758 |
rs770872200 |
GRCh37: 4:123663729-123663730 GRCh38: 4:122742574-122742575 |
33 |
BBS12 |
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) |
DEL |
Pathogenic
|
558010 |
rs1553941369 |
GRCh37: 4:123664055-123664056 GRCh38: 4:122742900-122742901 |
34 |
BBS12 |
NM_152618.3(BBS12):c.1267del (p.Ile423fs) |
DEL |
Pathogenic
|
657227 |
rs1578491135 |
GRCh37: 4:123664313-123664313 GRCh38: 4:122743158-122743158 |
35 |
ARL6 |
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) |
SNV |
Pathogenic
|
2040 |
rs104893678 |
GRCh37: 3:97506848-97506848 GRCh38: 3:97788004-97788004 |
36 |
BBS4 |
NC_000015.10:g.72708224_72722485del |
DEL |
Pathogenic
|
812225 |
|
GRCh37: 15:73000565-73014826 GRCh38: |
37 |
BBS4 |
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) |
SNV |
Pathogenic
|
9145 |
rs121434632 |
GRCh37: 15:73023915-73023915 GRCh38: 15:72731574-72731574 |
38 |
BBS7 |
NM_176824.3(BBS7):c.87_88del (p.His29fs) |
MICROSAT |
Pathogenic
|
804446 |
rs1578577361 |
GRCh37: 4:122789150-122789151 GRCh38: 4:121867995-121867996 |
39 |
BBS9 |
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) |
SNV |
Pathogenic
|
2660 |
rs137852858 |
GRCh37: 7:33376099-33376099 GRCh38: 7:33336487-33336487 |
40 |
BBS10 |
NC_000012.12:g.(?_76345803)_(76348368_?)del |
DEL |
Pathogenic
|
830774 |
|
GRCh37: 12:76739583-76742148 GRCh38: |
41 |
BBS12 |
NC_000004.12:g.(?_122741883)_(122744035_?)del |
DEL |
Pathogenic
|
830786 |
|
GRCh37: 4:123663038-123665190 GRCh38: |
42 |
ASTN2, TRIM32 |
NC_000009.12:g.(?_116697733)_(116699714_?)del |
DEL |
Pathogenic
|
831287 |
|
GRCh37: 9:119460012-119461993 GRCh38: |
43 |
ASTN2 and overlap with 1 gene(s) |
NC_000009.12:g.(?_116697743)_(116820783_?)del |
DEL |
Pathogenic
|
831676 |
|
GRCh37: 9:119460022-119583062 GRCh38: |
44 |
BBS5 |
NC_000002.12:g.(?_169492874)_(169493836_?)del |
DEL |
Pathogenic
|
832168 |
|
GRCh37: 2:170349384-170350346 GRCh38: |
45 |
BBS1 |
NC_000011.10:g.(?_66510650)_(66524211_?)del |
DEL |
Pathogenic
|
832534 |
|
GRCh37: 11:66278121-66291682 GRCh38: |
46 |
BBS1 |
NC_000011.10:g.(?_66523446)_(66524211_?)del |
DEL |
Pathogenic
|
833034 |
|
GRCh37: 11:66290917-66291682 GRCh38: |
47 |
BBS1 |
NC_000011.10:g.(?_66510640)_(66523902_?)del |
DEL |
Pathogenic
|
833066 |
|
GRCh37: 11:66278111-66291373 GRCh38: |
48 |
ASTN2, TRIM32 |
NC_000009.12:g.(?_116697743)_(116699704_?)del |
DEL |
Pathogenic
|
833078 |
|
GRCh37: 9:119460022-119461983 GRCh38: |
49 |
BBS12 |
NM_152618.3(BBS12):c.1151del (p.Ser384fs) |
DEL |
Pathogenic
|
550386 |
rs1553941404 |
GRCh37: 4:123664198-123664198 GRCh38: 4:122743043-122743043 |
50 |
ASTN2, TRIM32 |
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter) |
SNV |
Pathogenic
|
851055 |
rs398124253 |
GRCh37: 9:119460699-119460699 GRCh38: 9:116698420-116698420 |