| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.122742875_122742877del | CA3069355 | BBS12 | c.983_985del (p.Ser328del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742872C>A | CA358224134 | BBS12 | c.980C>A (p.Ser327Tyr) | |
| 4 | g.122742872C>G | CA358224135 | BBS12 | c.980C>G (p.Ser327Cys) | |
| 4 | g.122742872C>T | CA358224136 | BBS12 | c.980C>T (p.Ser327Phe) | |
| 4 | g.122742873T>A | CA441120874 | BBS12 | c.981T>A (p.Ser327=) | |
| 4 | g.122742873T>C | CA441120873 | BBS12 | c.981T>C (p.Ser327=) | |
| 4 | g.122742873T>G | CA441120872 | BBS12 | c.981T>G (p.Ser327=) | ClinVar dbSNP |
| 4 | g.122742874T>A | CA358224139 | BBS12 | c.982T>A (p.Ser328Thr) | |
| 4 | g.122742874T>C | CA358224138 | BBS12 | c.982T>C (p.Ser328Pro) | |
| 4 | g.122742874T>G | CA358224137 | BBS12 | c.982T>G (p.Ser328Ala) | |
| 4 | g.122742875C>A | CA358224142 | BBS12 | c.983C>A (p.Ser328Tyr) | COSMIC |
| 4 | g.122742875C>G | CA358224140 | BBS12 | c.983C>G (p.Ser328Cys) | |
| 4 | g.122742875C>T | CA358224141 | BBS12 | c.983C>T (p.Ser328Phe) | COSMIC |
| 4 | g.122742876T>A | CA441120876 | BBS12 | c.984T>A (p.Ser328=) | |
| 4 | g.122742876T>C | CA441120877 | BBS12 | c.984T>C (p.Ser328=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742876T>G | CA441120878 | BBS12 | c.984T>G (p.Ser328=) | |
| 4 | g.122742876T= | CA1490417810 | BBS12 | c.984T= (p.Ser328=) | |
| 4 | g.122742877T>A | CA358224143 | BBS12 | c.985T>A (p.Cys329Ser) | |
| 4 | g.122742877T>C | CA358224144 | BBS12 | c.985T>C (p.Cys329Arg) | dbSNP gnomAD v4 |
| 4 | g.122742877T>G | CA358224145 | BBS12 | c.985T>G (p.Cys329Gly) | |
| 4 | g.122742877T= | CA1490417811 | BBS12 | c.985T= (p.Cys329=) | |
| 4 | g.122742878G>A | CA358224146 | BBS12 | c.986G>A (p.Cys329Tyr) | ClinVar gnomAD v4 |
| 4 | g.122742878G>C | CA358224147 | BBS12 | c.986G>C (p.Cys329Ser) | |
| 4 | g.122742878G>T | CA358224148 | BBS12 | c.986G>T (p.Cys329Phe) | |
| 4 | g.122742879T>A | CA358224149 | BBS12 | c.987T>A (p.Cys329Ter) | |
| 4 | g.122742879T>C | CA441120880 | BBS12 | c.987T>C (p.Cys329=) | |
| 4 | g.122742879T>G | CA358224150 | BBS12 | c.987T>G (p.Cys329Trp) | gnomAD v4 |
| 4 | g.122742880G>A | CA358224151 | BBS12 | c.988G>A (p.Val330Ile) | |
| 4 | g.122742880G>C | CA358224152 | BBS12 | c.988G>C (p.Val330Leu) | |
| 4 | g.122742880G>T | CA358224153 | BBS12 | c.988G>T (p.Val330Phe) | |
| 4 | g.122742880_122742881delinsGT | CA1490417812 | BBS12 | c.988_989delinsGT (p.Val330=) | |
| 4 | g.122742881T>A | CA358224156 | BBS12 | c.989T>A (p.Val330Asp) | |
| 4 | g.122742881T>C | CA358224155 | BBS12 | c.989T>C (p.Val330Ala) | |
| 4 | g.122742881T>G | CA358224154 | BBS12 | c.989T>G (p.Val330Gly) | |
| 4 | g.122742883del | CA1490417813 | BBS12 | c.991del (p.Cys331ValfsTer15) | dbSNP |
| 4 | g.122742882T>A | CA441120885 | BBS12 | c.990T>A (p.Val330=) | |
| 4 | g.122742882T>C | CA441120886 | BBS12 | c.990T>C (p.Val330=) | ClinVar |
| 4 | g.122742882T>G | CA441120887 | BBS12 | c.990T>G (p.Val330=) | |
| 4 | g.122742883T>A | CA358224157 | BBS12 | c.991T>A (p.Cys331Ser) | |
| 4 | g.122742883T>C | CA358224158 | BBS12 | c.991T>C (p.Cys331Arg) | |
| 4 | g.122742883T>G | CA358224159 | BBS12 | c.991T>G (p.Cys331Gly) | |
| 4 | g.122742884G>A | CA358224160 | BBS12 | c.992G>A (p.Cys331Tyr) | |
| 4 | g.122742884G>C | CA358224161 | BBS12 | c.992G>C (p.Cys331Ser) | |
| 4 | g.122742884G>T | CA358224162 | BBS12 | c.992G>T (p.Cys331Phe) | COSMIC |
| 4 | g.122742885T>A | CA358224163 | BBS12 | c.993T>A (p.Cys331Ter) | |
| 4 | g.122742885T>C | CA441120891 | BBS12 | c.993T>C (p.Cys331=) | |
| 4 | g.122742885T>G | CA358224164 | BBS12 | c.993T>G (p.Cys331Trp) | |
| 4 | g.122742886C>A | CA358224165 | BBS12 | c.994C>A (p.Pro332Thr) | |
| 4 | g.122742886C= | CA1490417814 | BBS12 | c.994C= (p.Pro332=) | |
| 4 | g.122742886C>G | CA3069357 | BBS12 | c.994C>G (p.Pro332Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |