|
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
|
|
|
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
|
|
|
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
|
|
|
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
|
|
|
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
|
|
|
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
|
|
|
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
|
|
|
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
|
|
|
GRCh38/hg38 16q13(chr16:56496014-56504285)
|
|
|
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
|
|
|
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
|
|
|
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
|
|
|
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
|
|
|
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
|
|
|
NC_000002.12:g.169504481_169504487del
|
|
|
NC_000011.10:g.(?_66529809)_(66532047_?)del
|
|
|
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr)
|
rs200865108 |
|
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln)
|
rs201619500 |
|
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)
|
rs751375244 |
|
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter)
|
|
|
NM_015910.7(WDPCP):c.1916-2A>G
|
rs763299856 |
|
NM_015910.7(WDPCP):c.633+2T>C
|
|
|
NM_018848.3(MKKS):c.1235G>T (p.Cys412Phe)
|
rs1396840386 |
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925 |
|
NM_024649.5(BBS1):c.1111-2A>G
|
|
|
NM_024649.5(BBS1):c.1126_1130CTTTG[1] (p.Cys377fs)
|
rs786204701 |
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448 |
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777 |
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829 |
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444 |
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985 |
|
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)
|
rs772917364 |
|
NM_024649.5(BBS1):c.480-2A>C
|
|
|
NM_024649.5(BBS1):c.723+1G>C
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332 |
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
|
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573 |
|
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)
|
rs537219462 |
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661 |
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838 |
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695 |
|
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)
|
rs771325212 |
|
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710 |
|
NM_031885.4(BBS2):c.1770del (p.Phe590fs)
|
rs193922711 |
|
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021 |
|
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386 |
|
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240 |
|
NM_031885.4(BBS2):c.806T>G (p.Val269Gly)
|
rs886039797 |
|
NM_031885.4(BBS2):c.941-2A>C
|
rs878962682 |
|
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178 |
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
|
|
NM_031885.5(BBS2):c.1398-2A>G
|
|
|
NM_031885.5(BBS2):c.718-2A>C
|
|
|
NM_031885.5(BBS2):c.804+1_804+14del
|
|
|
NM_031885.5(BBS2):c.941-1G>C
|
|
|
NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464 |
|
NM_033028.5(BBS4):c.1248+1G>T
|
|
|
NM_033028.5(BBS4):c.333-1G>C
|
|
|
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)
|
rs1595935759 |
|
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)
|
rs372822977 |
|
NM_033028.5(BBS4):c.830G>T (p.Gly277Val)
|
rs749017489 |
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918 |
|
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)
|
rs786205636 |
|
NM_152384.3(BBS5):c.817-1G>A
|
rs1466289570 |
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549 |
|
NM_152618.3(BBS12):c.2056_2059ACAG[1] (p.Asp687fs)
|
rs746478265 |
|
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)
|
rs121918328 |
|
NM_170784.2(MKKS):c.837del (p.Gly280fs)
|
rs776004321 |
|
NM_176824.3(BBS7):c.1371+1G>A
|
rs1578537379 |
|
NM_176824.3(BBS7):c.1677-490_1804del
|
rs1578522416 |
|
NM_176824.3(BBS7):c.1786+1G>T
|
rs1560638613 |
|
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys)
|
rs1233058112 |
|
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
|
rs672601379 |
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001 |
|
NM_198428.3(BBS9):c.1552+2T>A
|
rs1563049863 |
|
NM_198428.3(BBS9):c.1789+1G>T
|
rs201938124 |