Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.121859030C>A | CA358042862 | BBS7 | c.490G>T (p.Val164Leu) n.325G>T | |
4 | g.121859030C= | CA1490028046 | BBS7 | c.490G= (p.Val164=) n.325G= | |
4 | g.121859030C>G | CA358042864 | BBS7 | c.490G>C (p.Val164Leu) n.325G>C | |
4 | g.121859030C>T | CA104729794 | BBS7 | c.490G>A (p.Val164Ile) n.325G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121859031A= | CA1490028047 | BBS7 | c.489T= (p.Pro163=) n.324T= | |
4 | g.121859031A>C | CA440911941 | BBS7 | c.489T>G (p.Pro163=) n.324T>G | |
4 | g.121859031A>G | CA440911943 | BBS7 | c.489T>C (p.Pro163=) n.324T>C | dbSNP |
4 | g.121859031A>T | CA440911944 | BBS7 | c.489T>A (p.Pro163=) n.324T>A | |
4 | g.121859032G>A | CA358042872 | BBS7 | c.488C>T (p.Pro163Leu) n.323C>T | |
4 | g.121859032G>C | CA358042868 | BBS7 | c.488C>G (p.Pro163Arg) n.323C>G | |
4 | g.121859032G>T | CA358042870 | BBS7 | c.488C>A (p.Pro163His) n.323C>A | |
4 | g.121859033del | CA2499217066 | BBS7 | c.488del (p.Pro163LeufsTer18) n.323del | ClinVar dbSNP |
4 | g.121859033G>A | CA3064506 | BBS7 | c.487C>T (p.Pro163Ser) n.322C>T | ClinVar dbSNP ExAC gnomAD v2 |
4 | g.121859033G>C | CA358042876 | BBS7 | c.487C>G (p.Pro163Ala) n.322C>G | |
4 | g.121859033G= | CA1490028048 | BBS7 | c.487C= (p.Pro163=) n.322C= | |
4 | g.121859033G>T | CA358042878 | BBS7 | c.487C>A (p.Pro163Thr) n.322C>A | |
4 | g.121859034T>A | CA440911948 | BBS7 | c.486A>T (p.Thr162=) n.321A>T | |
4 | g.121859034T>C | CA3064507 | BBS7 | c.486A>G (p.Thr162=) n.321A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121859034T>G | CA440911950 | BBS7 | c.486A>C (p.Thr162=) n.321A>C | |
4 | g.121859034T= | CA1490028049 | BBS7 | c.486A= (p.Thr162=) n.321A= | |
4 | g.121859035G>A | CA358042881 | BBS7 | c.485C>T (p.Thr162Ile) n.320C>T | |
4 | g.121859035G>C | CA358042883 | BBS7 | c.485C>G (p.Thr162Arg) n.320C>G | |
4 | g.121859035G>T | CA358042885 | BBS7 | c.485C>A (p.Thr162Lys) n.320C>A | |
4 | g.121859036T>A | CA358042887 | BBS7 | c.484A>T (p.Thr162Ser) n.319A>T | |
4 | g.121859036T>C | CA358042889 | BBS7 | c.484A>G (p.Thr162Ala) n.319A>G | gnomAD v4 |
4 | g.121859036T>G | CA358042891 | BBS7 | c.484A>C (p.Thr162Pro) n.319A>C | |
4 | g.121859037G>A | CA440911953 | BBS7 | c.483C>T (p.Ile161=) n.318C>T | |
4 | g.121859037G>C | CA358042894 | BBS7 | c.483C>G (p.Ile161Met) n.318C>G | |
4 | g.121859037G>T | CA440911954 | BBS7 | c.483C>A (p.Ile161=) n.318C>A | ClinVar |
4 | g.121859038A>C | CA358042897 | BBS7 | c.482T>G (p.Ile161Ser) n.317T>G | |
4 | g.121859038A>G | CA358042899 | BBS7 | c.482T>C (p.Ile161Thr) n.317T>C | |
4 | g.121859038A>T | CA358042895 | BBS7 | c.482T>A (p.Ile161Asn) n.317T>A | |
4 | g.121859039T>A | CA358042901 | BBS7 | c.481A>T (p.Ile161Phe) n.316A>T | |
4 | g.121859039T>C | CA358042904 | BBS7 | c.481A>G (p.Ile161Val) n.316A>G | |
4 | g.121859039T>G | CA358042906 | BBS7 | c.481A>C (p.Ile161Leu) n.316A>C | |
4 | g.121859040A>C | CA440911956 | BBS7 | c.480T>G (p.Arg160=) n.315T>G | |
4 | g.121859040A>G | CA440911960 | BBS7 | c.480T>C (p.Arg160=) n.315T>C | |
4 | g.121859040A>T | CA440911958 | BBS7 | c.480T>A (p.Arg160=) n.315T>A | |
4 | g.121859041C>A | CA358042908 | BBS7 | c.479G>T (p.Arg160Leu) n.314G>T | |
4 | g.121859041C= | CA1490028050 | BBS7 | c.479G= (p.Arg160=) n.314G= | |
4 | g.121859041C>G | CA358042911 | BBS7 | c.479G>C (p.Arg160Pro) n.314G>C | dbSNP |
4 | g.121859041C>T | CA104729808 | BBS7 | c.479G>A (p.Arg160His) n.314G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.121859042G>A | CA3064508 | BBS7 | c.478C>T (p.Arg160Cys) n.313C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.121859042G>C | CA358042915 | BBS7 | c.478C>G (p.Arg160Gly) n.313C>G | |
4 | g.121859042G= | CA1490028051 | BBS7 | c.478C= (p.Arg160=) n.313C= | |
4 | g.121859042G>T | CA358042917 | BBS7 | c.478C>A (p.Arg160Ser) n.313C>A | |
4 | g.121859043A>C | CA440911962 | BBS7 | c.477T>G (p.Ser159=) n.312T>G | |
4 | g.121859043A>G | CA440911963 | BBS7 | c.477T>C (p.Ser159=) n.312T>C | |
4 | g.121859043A>T | CA440911964 | BBS7 | c.477T>A (p.Ser159=) n.312T>A | |
4 | g.121859044G>A | CA358042919 | BBS7 | c.476C>T (p.Ser159Phe) n.311C>T |