| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.76346343A>C | CA385810695 | BBS10 | c.1642T>G (p.Tyr548Asp) | |
| 12 | g.76346343A>G | CA385810696 | BBS10 | c.1642T>C (p.Tyr548His) | |
| 12 | g.76346343A>T | CA385810698 | BBS10 | c.1642T>A (p.Tyr548Asn) | |
| 12 | g.76346344A>C | CA481011270 | BBS10 | c.1641T>G (p.Ala547=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76346344A>G | CA481011271 | BBS10 | c.1641T>C (p.Ala547=) | |
| 12 | g.76346344A>T | CA481011272 | BBS10 | c.1641T>A (p.Ala547=) | ClinVar |
| 12 | g.76346345G>A | CA385810700 | BBS10 | c.1640C>T (p.Ala547Val) | |
| 12 | g.76346345G>C | CA385810702 | BBS10 | c.1640C>G (p.Ala547Gly) | |
| 12 | g.76346345G= | CA2047353263 | BBS10 | c.1640C= (p.Ala547=) | |
| 12 | g.76346345G>T | CA6694131 | BBS10 | c.1640C>A (p.Ala547Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.76346346C>A | CA385810707 | BBS10 | c.1639G>T (p.Ala547Ser) | |
| 12 | g.76346346C= | CA2047353264 | BBS10 | c.1639G= (p.Ala547=) | |
| 12 | g.76346346C>G | CA385810706 | BBS10 | c.1639G>C (p.Ala547Pro) | |
| 12 | g.76346346C>T | CA6694132 | BBS10 | c.1639G>A (p.Ala547Thr) | dbSNP ExAC gnomAD v2 |
| 12 | g.76346347A>C | CA481011279 | BBS10 | c.1638T>G (p.Thr546=) | |
| 12 | g.76346347A>G | CA481011280 | BBS10 | c.1638T>C (p.Thr546=) | |
| 12 | g.76346347A>T | CA481011281 | BBS10 | c.1638T>A (p.Thr546=) | |
| 12 | g.76346348G>A | CA385810708 | BBS10 | c.1637C>T (p.Thr546Ile) | |
| 12 | g.76346348G>C | CA385810712 | BBS10 | c.1637C>G (p.Thr546Ser) | |
| 12 | g.76346348G>T | CA385810710 | BBS10 | c.1637C>A (p.Thr546Asn) | |
| 12 | g.76346349T>A | CA385810713 | BBS10 | c.1636A>T (p.Thr546Ser) | |
| 12 | g.76346349T>C | CA385810715 | BBS10 | c.1636A>G (p.Thr546Ala) | gnomAD v4 |
| 12 | g.76346349T>G | CA385810716 | BBS10 | c.1636A>C (p.Thr546Pro) | |
| 12 | g.76346350G>A | CA481011283 | BBS10 | c.1635C>T (p.Ser545=) | |
| 12 | g.76346350G>C | CA481011284 | BBS10 | c.1635C>G (p.Ser545=) | |
| 12 | g.76346350G>T | CA481011286 | BBS10 | c.1635C>A (p.Ser545=) | |
| 12 | g.76346351G>A | CA385810718 | BBS10 | c.1634C>T (p.Ser545Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.76346351G>C | CA385810719 | BBS10 | c.1634C>G (p.Ser545Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.76346351G= | CA2047353265 | BBS10 | c.1634C= (p.Ser545=) | |
| 12 | g.76346351G>T | CA385810720 | BBS10 | c.1634C>A (p.Ser545Tyr) | |
| 12 | g.76346352A= | CA2047353266 | BBS10 | c.1633T= (p.Ser545=) | |
| 12 | g.76346352A>C | CA385810721 | BBS10 | c.1633T>G (p.Ser545Ala) | |
| 12 | g.76346352A>G | CA385810722 | BBS10 | c.1633T>C (p.Ser545Pro) | |
| 12 | g.76346352A>T | CA6694133 | BBS10 | c.1633T>A (p.Ser545Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.76346353A>C | CA385810724 | BBS10 | c.1632T>G (p.Asn544Lys) | |
| 12 | g.76346353A>G | CA481010590 | BBS10 | c.1632T>C (p.Asn544=) | |
| 12 | g.76346353A>T | CA385810726 | BBS10 | c.1632T>A (p.Asn544Lys) | |
| 12 | g.76346354T>A | CA385810731 | BBS10 | c.1631A>T (p.Asn544Ile) | |
| 12 | g.76346354T>C | CA179766 | BBS10 | c.1631A>G (p.Asn544Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76346354T>G | CA385810728 | BBS10 | c.1631A>C (p.Asn544Thr) | |
| 12 | g.76346354T= | CA2047353267 | BBS10 | c.1631A= (p.Asn544=) | |
| 12 | g.76346355T>A | CA385810733 | BBS10 | c.1630A>T (p.Asn544Tyr) | |
| 12 | g.76346355T>C | CA385810735 | BBS10 | c.1630A>G (p.Asn544Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.76346355T>G | CA385810737 | BBS10 | c.1630A>C (p.Asn544His) | |
| 12 | g.76346355T= | CA2047353268 | BBS10 | c.1630A= (p.Asn544=) | |
| 12 | g.76346356G>A | CA6694134 | BBS10 | c.1629C>T (p.Asn543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76346356G>C | CA385810740 | BBS10 | c.1629C>G (p.Asn543Lys) | |
| 12 | g.76346356G= | CA2047353270 | BBS10 | c.1629C= (p.Asn543=) | |
| 12 | g.76346356G>T | CA385810741 | BBS10 | c.1629C>A (p.Asn543Lys) | |
| 12 | g.76346356_76346359delinsGTTC | CA2047353269 | BBS10 | c.1626_1629delinsGAAC (p.Lys542=) |