| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.121854427_121854431delinsTCAGA | CA1490025859 | BBS7 | c.718+273_718+277delinsTCTGA (n.718+273_718+277delinsTCTGA) c.721+273_721+277delinsTCTGA (n.721+273_721+277delinsTCTGA) c.766+273_766+277delinsTCTGA (n.766+273_766+277delinsTCTGA) c.763+273_763+277delinsTCTGA (n.763+273_763+277delinsTCTGA) | |
| 4 | g.121854428C= | CA1490025860 | BBS7 | c.718+276G= (n.718+276G=) c.721+276G= (n.721+276G=) c.766+276G= (n.766+276G=) c.763+276G= (n.763+276G=) | |
| 4 | g.121854428C>T | CA554188340 | BBS7 | c.718+276G>A (n.718+276G>A) c.721+276G>A (n.721+276G>A) c.766+276G>A (n.766+276G>A) c.763+276G>A (n.763+276G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854430_121854433del | CA104766534 | BBS7 | c.718+273_718+276del (n.718+273_718+276del) c.721+273_721+276del (n.721+273_721+276del) c.766+273_766+276del (n.766+273_766+276del) c.763+273_763+276del (n.763+273_763+276del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854432C= | CA1490025861 | BBS7 | c.718+272G= (n.718+272G=) c.721+272G= (n.721+272G=) c.766+272G= (n.766+272G=) c.763+272G= (n.763+272G=) | |
| 4 | g.121854432C>T | CA1490025862 | BBS7 | c.718+272G>A (n.718+272G>A) c.721+272G>A (n.721+272G>A) c.766+272G>A (n.766+272G>A) c.763+272G>A (n.763+272G>A) | dbSNP |
| 4 | g.121854437_121854459del | CA2521328626 | BBS7 | c.718+247_718+269del (n.718+247_718+269del) c.721+247_721+269del (n.721+247_721+269del) c.766+247_766+269del (n.766+247_766+269del) c.763+247_763+269del (n.763+247_763+269del) | |
| 4 | g.121854441T>C | CA1490025864 | BBS7 | c.718+263A>G (n.718+263A>G) c.721+263A>G (n.721+263A>G) c.766+263A>G (n.766+263A>G) c.763+263A>G (n.763+263A>G) | dbSNP |
| 4 | g.121854441T= | CA1490025863 | BBS7 | c.718+263A= (n.718+263A=) c.721+263A= (n.721+263A=) c.766+263A= (n.766+263A=) c.763+263A= (n.763+263A=) | |
| 4 | g.121854444A= | CA1490025866 | BBS7 | c.718+260T= (n.718+260T=) c.721+260T= (n.721+260T=) c.766+260T= (n.766+260T=) c.763+260T= (n.763+260T=) | |
| 4 | g.121854444A>G | CA1490025865 | BBS7 | c.718+260T>C (n.718+260T>C) c.721+260T>C (n.721+260T>C) c.766+260T>C (n.766+260T>C) c.763+260T>C (n.763+260T>C) | dbSNP |
| 4 | g.121854448A>T | CA1067454827 | BBS7 | c.718+256T>A (n.718+256T>A) c.721+256T>A (n.721+256T>A) c.766+256T>A (n.766+256T>A) c.763+256T>A (n.763+256T>A) | gnomAD v3 gnomAD v4 |
| 4 | g.121854449A= | CA1490025867 | BBS7 | c.718+255T= (n.718+255T=) c.721+255T= (n.721+255T=) c.766+255T= (n.766+255T=) c.763+255T= (n.763+255T=) | |
| 4 | g.121854449A>T | CA1067454828 | BBS7 | c.718+255T>A (n.718+255T>A) c.721+255T>A (n.721+255T>A) c.766+255T>A (n.766+255T>A) c.763+255T>A (n.763+255T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854452T>C | CA104766538 | BBS7 | c.718+252A>G (n.718+252A>G) c.721+252A>G (n.721+252A>G) c.766+252A>G (n.766+252A>G) c.763+252A>G (n.763+252A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854452T= | CA1490025868 | BBS7 | c.718+252A= (n.718+252A=) c.721+252A= (n.721+252A=) c.766+252A= (n.766+252A=) c.763+252A= (n.763+252A=) | |
| 4 | g.121854461_121854462insATTGTCTGAGGTAATTTAGTTGTTTGAGGTACA | CA1067454830 | BBS7 | c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT (n.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT) c.721+243_721+244insGTACCTCAAACAACTAAATTACCTCAGACAATT (n.721+243_721+244insGTACCTCAAACAACTAAATTACCTCAGACAATT) c.766+243_766+244insGTACCTCAAACAACTAAATTACCTCAGACAATT (n.766+243_766+244insGTACCTCAAACAACTAAATTACCTCAGACAATT) c.763+243_763+244insGTACCTCAAACAACTAAATTACCTCAGACAATT (n.763+243_763+244insGTACCTCAAACAACTAAATTACCTCAGACAATT) | gnomAD v3 gnomAD v4 |
| 4 | g.121854463C= | CA1490025869 | BBS7 | c.718+241G= (n.718+241G=) c.721+241G= (n.721+241G=) c.766+241G= (n.766+241G=) c.763+241G= (n.763+241G=) | |
| 4 | g.121854463C>G | CA1067454832 | BBS7 | c.718+241G>C (n.718+241G>C) c.721+241G>C (n.721+241G>C) c.766+241G>C (n.766+241G>C) c.763+241G>C (n.763+241G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854463C>T | CA2763339181 | BBS7 | c.718+241G>A (n.718+241G>A) c.721+241G>A (n.721+241G>A) c.766+241G>A (n.766+241G>A) c.763+241G>A (n.763+241G>A) | |
| 4 | g.121854468_121854470delinsAAT | CA1490025871 | BBS7 | c.718+234_718+236delinsATT (n.718+234_718+236delinsATT) c.721+234_721+236delinsATT (n.721+234_721+236delinsATT) c.766+234_766+236delinsATT (n.766+234_766+236delinsATT) c.763+234_763+236delinsATT (n.763+234_763+236delinsATT) | |
| 4 | g.121854468_121854471delinsAATG | CA1490025870 | BBS7 | c.718+233_718+236delinsCATT (n.718+233_718+236delinsCATT) c.721+233_721+236delinsCATT (n.721+233_721+236delinsCATT) c.766+233_766+236delinsCATT (n.766+233_766+236delinsCATT) c.763+233_763+236delinsCATT (n.763+233_763+236delinsCATT) | |
| 4 | g.121854469_121854470del | CA1490025872 | BBS7 | c.718+234_718+235del (n.718+234_718+235del) c.721+234_721+235del (n.721+234_721+235del) c.766+234_766+235del (n.766+234_766+235del) c.763+234_763+235del (n.763+234_763+235del) | dbSNP |
| 4 | g.121854469_121854470delinsAT | CA1490025873 | BBS7 | c.718+234_718+235delinsAT (n.718+234_718+235delinsAT) c.721+234_721+235delinsAT (n.721+234_721+235delinsAT) c.766+234_766+235delinsAT (n.766+234_766+235delinsAT) c.763+234_763+235delinsAT (n.763+234_763+235delinsAT) | |
| 4 | g.121854471_121854473del | CA104766543 | BBS7 | c.718+233_718+235del (n.718+233_718+235del) c.721+233_721+235del (n.721+233_721+235del) c.766+233_766+235del (n.766+233_766+235del) c.763+233_763+235del (n.763+233_763+235del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854470del | CA1490025874 | BBS7 | c.718+234del (n.718+234del) c.721+234del (n.721+234del) c.766+234del (n.766+234del) c.763+234del (n.763+234del) | dbSNP |
| 4 | g.121854472A= | CA1490025876 | BBS7 | c.718+232T= (n.718+232T=) c.721+232T= (n.721+232T=) c.766+232T= (n.766+232T=) c.763+232T= (n.763+232T=) | |
| 4 | g.121854472A>T | CA1490025875 | BBS7 | c.718+232T>A (n.718+232T>A) c.721+232T>A (n.721+232T>A) c.766+232T>A (n.766+232T>A) c.763+232T>A (n.763+232T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854476T>C | CA2763339182 | BBS7 | c.718+228A>G (n.718+228A>G) c.721+228A>G (n.721+228A>G) c.766+228A>G (n.766+228A>G) c.763+228A>G (n.763+228A>G) | |
| 4 | g.121854482A= | CA1490025878 | BBS7 | c.718+222T= (n.718+222T=) c.721+222T= (n.721+222T=) c.766+222T= (n.766+222T=) c.763+222T= (n.763+222T=) | |
| 4 | g.121854482A>G | CA1067454840 | BBS7 | c.718+222T>C (n.718+222T>C) c.721+222T>C (n.721+222T>C) c.766+222T>C (n.766+222T>C) c.763+222T>C (n.763+222T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854482_121854483delinsAT | CA1490025877 | BBS7 | c.718+221_718+222delinsAT (n.718+221_718+222delinsAT) c.721+221_721+222delinsAT (n.721+221_721+222delinsAT) c.766+221_766+222delinsAT (n.766+221_766+222delinsAT) c.763+221_763+222delinsAT (n.763+221_763+222delinsAT) | |
| 4 | g.121854483del | CA786315941 | BBS7 | c.718+221del (n.718+221del) c.721+221del (n.721+221del) c.766+221del (n.766+221del) c.763+221del (n.763+221del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854485A>G | CA648836202 | BBS7 | c.718+219T>C (n.718+219T>C) c.721+219T>C (n.721+219T>C) c.766+219T>C (n.766+219T>C) c.763+219T>C (n.763+219T>C) | COSMIC |
| 4 | g.121854486A>C | CA2534863027 | BBS7 | c.718+218T>G (n.718+218T>G) c.721+218T>G (n.721+218T>G) c.766+218T>G (n.766+218T>G) c.763+218T>G (n.763+218T>G) | |
| 4 | g.121854489C>A | CA104766549 | BBS7 | c.718+215G>T (n.718+215G>T) c.721+215G>T (n.721+215G>T) c.766+215G>T (n.766+215G>T) c.763+215G>T (n.763+215G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854489C= | CA1490025879 | BBS7 | c.718+215G= (n.718+215G=) c.721+215G= (n.721+215G=) c.766+215G= (n.766+215G=) c.763+215G= (n.763+215G=) | |
| 4 | g.121854489C>T | CA104766546 | BBS7 | c.718+215G>A (n.718+215G>A) c.721+215G>A (n.721+215G>A) c.766+215G>A (n.766+215G>A) c.763+215G>A (n.763+215G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854490G>A | CA104766551 | BBS7 | c.718+214C>T (n.718+214C>T) c.721+214C>T (n.721+214C>T) c.766+214C>T (n.766+214C>T) c.763+214C>T (n.763+214C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854490G= | CA1490025880 | BBS7 | c.718+214C= (n.718+214C=) c.721+214C= (n.721+214C=) c.766+214C= (n.766+214C=) c.763+214C= (n.763+214C=) | |
| 4 | g.121854490G>T | CA1490025881 | BBS7 | c.718+214C>A (n.718+214C>A) c.721+214C>A (n.721+214C>A) c.766+214C>A (n.766+214C>A) c.763+214C>A (n.763+214C>A) | dbSNP |
| 4 | g.121854499C= | CA1490025882 | BBS7 | c.718+205G= (n.718+205G=) c.721+205G= (n.721+205G=) c.766+205G= (n.766+205G=) c.763+205G= (n.763+205G=) | |
| 4 | g.121854499C>T | CA104766555 | BBS7 | c.718+205G>A (n.718+205G>A) c.721+205G>A (n.721+205G>A) c.766+205G>A (n.766+205G>A) c.763+205G>A (n.763+205G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854501A= | CA1490025883 | BBS7 | c.718+203T= (n.718+203T=) c.721+203T= (n.721+203T=) c.766+203T= (n.766+203T=) c.763+203T= (n.763+203T=) | |
| 4 | g.121854501A>C | CA786315945 | BBS7 | c.718+203T>G (n.718+203T>G) c.721+203T>G (n.721+203T>G) c.766+203T>G (n.766+203T>G) c.763+203T>G (n.763+203T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854505T>G | CA554188341 | BBS7 | c.718+199A>C (n.718+199A>C) c.721+199A>C (n.721+199A>C) c.766+199A>C (n.766+199A>C) c.763+199A>C (n.763+199A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854505T= | CA1490025884 | BBS7 | c.718+199A= (n.718+199A=) c.721+199A= (n.721+199A=) c.766+199A= (n.766+199A=) c.763+199A= (n.763+199A=) | |
| 4 | g.121854507C= | CA1490025885 | BBS7 | c.718+197G= (n.718+197G=) c.721+197G= (n.721+197G=) c.766+197G= (n.766+197G=) c.763+197G= (n.763+197G=) | |
| 4 | g.121854507C>G | CA104766568 | BBS7 | c.718+197G>C (n.718+197G>C) c.721+197G>C (n.721+197G>C) c.766+197G>C (n.766+197G>C) c.763+197G>C (n.763+197G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854509A= | CA1490025886 | BBS7 | c.718+195T= (n.718+195T=) c.721+195T= (n.721+195T=) c.766+195T= (n.766+195T=) c.763+195T= (n.763+195T=) | |
| 4 | g.121854509A>C | CA786315949 | BBS7 | c.718+195T>G (n.718+195T>G) c.721+195T>G (n.721+195T>G) c.766+195T>G (n.766+195T>G) c.763+195T>G (n.763+195T>G) | dbSNP |
| 4 | g.121854510T>C | CA1490025888 | BBS7 | c.718+194A>G (n.718+194A>G) c.721+194A>G (n.721+194A>G) c.766+194A>G (n.766+194A>G) c.763+194A>G (n.763+194A>G) | dbSNP |
| 4 | g.121854510T= | CA1490025887 | BBS7 | c.718+194A= (n.718+194A=) c.721+194A= (n.721+194A=) c.766+194A= (n.766+194A=) c.763+194A= (n.763+194A=) | |
| 4 | g.121854511C>A | CA1490025890 | BBS7 | c.718+193G>T (n.718+193G>T) c.721+193G>T (n.721+193G>T) c.766+193G>T (n.766+193G>T) c.763+193G>T (n.763+193G>T) | dbSNP |
| 4 | g.121854511C= | CA1490025889 | BBS7 | c.718+193G= (n.718+193G=) c.721+193G= (n.721+193G=) c.766+193G= (n.766+193G=) c.763+193G= (n.763+193G=) | |
| 4 | g.121854513G>A | CA786315950 | BBS7 | c.718+191C>T (n.718+191C>T) c.721+191C>T (n.721+191C>T) c.766+191C>T (n.766+191C>T) c.763+191C>T (n.763+191C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854513G= | CA1490025891 | BBS7 | c.718+191C= (n.718+191C=) c.721+191C= (n.721+191C=) c.766+191C= (n.766+191C=) c.763+191C= (n.763+191C=) | |
| 4 | g.121854516T>G | CA104766571 | BBS7 | c.718+188A>C (n.718+188A>C) c.721+188A>C (n.721+188A>C) c.766+188A>C (n.766+188A>C) c.763+188A>C (n.763+188A>C) | dbSNP |
| 4 | g.121854516T= | CA1490025892 | BBS7 | c.718+188A= (n.718+188A=) c.721+188A= (n.721+188A=) c.766+188A= (n.766+188A=) c.763+188A= (n.763+188A=) | |
| 4 | g.121854520T>C | CA104766573 | BBS7 | c.718+184A>G (n.718+184A>G) c.721+184A>G (n.721+184A>G) c.766+184A>G (n.766+184A>G) c.763+184A>G (n.763+184A>G) | dbSNP |
| 4 | g.121854520T= | CA1490025893 | BBS7 | c.718+184A= (n.718+184A=) c.721+184A= (n.721+184A=) c.766+184A= (n.766+184A=) c.763+184A= (n.763+184A=) | |
| 4 | g.121854527T>A | CA554188342 | BBS7 | c.718+177A>T (n.718+177A>T) c.721+177A>T (n.721+177A>T) c.766+177A>T (n.766+177A>T) c.763+177A>T (n.763+177A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854527T= | CA1490025894 | BBS7 | c.718+177A= (n.718+177A=) c.721+177A= (n.721+177A=) c.766+177A= (n.766+177A=) c.763+177A= (n.763+177A=) |