| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.76347624dup | CA6694366 | BBS10 | c.365dup (p.Asn122LysfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.76347624T>A | CA16041588 | BBS10 | c.361A>T (p.Lys121Ter) | ClinVar dbSNP |
| 12 | g.76347624T>C | CA385815445 | BBS10 | c.361A>G (p.Lys121Glu) | |
| 12 | g.76347624T>G | CA385815444 | BBS10 | c.361A>C (p.Lys121Gln) | |
| 12 | g.76347624T= | CA2047353864 | BBS10 | c.361A= (p.Lys121=) | |
| 12 | g.76347625C>A | CA385815446 | BBS10 | c.360G>T (p.Trp120Cys) | |
| 12 | g.76347625C= | CA2047353865 | BBS10 | c.360G= (p.Trp120=) | |
| 12 | g.76347625C>G | CA385815447 | BBS10 | c.360G>C (p.Trp120Cys) | |
| 12 | g.76347625C>T | CA385815448 | BBS10 | c.360G>A (p.Trp120Ter) | ClinVar dbSNP |
| 12 | g.76347626C>A | CA385815449 | BBS10 | c.359G>T (p.Trp120Leu) | |
| 12 | g.76347626C>G | CA385815450 | BBS10 | c.359G>C (p.Trp120Ser) | |
| 12 | g.76347626C>T | CA385815451 | BBS10 | c.359G>A (p.Trp120Ter) | |
| 12 | g.76347627A>C | CA385815452 | BBS10 | c.358T>G (p.Trp120Gly) | |
| 12 | g.76347627A>G | CA385815453 | BBS10 | c.358T>C (p.Trp120Arg) | ClinVar |
| 12 | g.76347627A>T | CA385815454 | BBS10 | c.358T>A (p.Trp120Arg) | |
| 12 | g.76347628A= | CA2047353866 | BBS10 | c.357T= (p.His119=) | |
| 12 | g.76347628A>C | CA385815455 | BBS10 | c.357T>G (p.His119Gln) | |
| 12 | g.76347628A>G | CA239332511 | BBS10 | c.357T>C (p.His119=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76347628A>T | CA385815456 | BBS10 | c.357T>A (p.His119Gln) | |
| 12 | g.76347629T>A | CA385815459 | BBS10 | c.356A>T (p.His119Leu) | |
| 12 | g.76347629T>C | CA385815458 | BBS10 | c.356A>G (p.His119Arg) | |
| 12 | g.76347629T>G | CA385815457 | BBS10 | c.356A>C (p.His119Pro) | |
| 12 | g.76347630G>A | CA385815460 | BBS10 | c.355C>T (p.His119Tyr) | |
| 12 | g.76347630G>C | CA385815461 | BBS10 | c.355C>G (p.His119Asp) | |
| 12 | g.76347630G>T | CA385815462 | BBS10 | c.355C>A (p.His119Asn) | |
| 12 | g.76347631C>A | CA385815463 | BBS10 | c.354G>T (p.Arg118Ser) | |
| 12 | g.76347631C>G | CA385815464 | BBS10 | c.354G>C (p.Arg118Ser) | |
| 12 | g.76347631C>T | CA481011956 | BBS10 | c.354G>A (p.Arg118=) | gnomAD v4 |
| 12 | g.76347632C>A | CA385815686 | BBS10 | c.353G>T (p.Arg118Met) | |
| 12 | g.76347632C>G | CA385815687 | BBS10 | c.353G>C (p.Arg118Thr) | |
| 12 | g.76347632C>T | CA385815688 | BBS10 | c.353G>A (p.Arg118Lys) | gnomAD v4 |
| 12 | g.76347633T>A | CA385815689 | BBS10 | c.352A>T (p.Arg118Trp) | |
| 12 | g.76347633T>C | CA385815690 | BBS10 | c.352A>G (p.Arg118Gly) | |
| 12 | g.76347633T>G | CA480794042 | BBS10 | c.352A>C (p.Arg118=) | |
| 12 | g.76347634T>A | CA480794043 | BBS10 | c.351A>T (p.Gly117=) | |
| 12 | g.76347634T>C | CA480794044 | BBS10 | c.351A>G (p.Gly117=) | |
| 12 | g.76347634T>G | CA480794045 | BBS10 | c.351A>C (p.Gly117=) | |
| 12 | g.76347635C>A | CA385815691 | BBS10 | c.350G>T (p.Gly117Val) | |
| 12 | g.76347635C= | CA2047353867 | BBS10 | c.350G= (p.Gly117=) | |
| 12 | g.76347635C>G | CA385815692 | BBS10 | c.350G>C (p.Gly117Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76347635C>T | CA385815693 | BBS10 | c.350G>A (p.Gly117Glu) | ClinVar dbSNP |
| 12 | g.76347636C>A | CA385815695 | BBS10 | c.349G>T (p.Gly117Ter) | |
| 12 | g.76347636C>G | CA385815696 | BBS10 | c.349G>C (p.Gly117Arg) | |
| 12 | g.76347636C>T | CA385815694 | BBS10 | c.349G>A (p.Gly117Arg) | |
| 12 | g.76347637A>C | CA385815698 | BBS10 | c.348T>G (p.His116Gln) | dbSNP |
| 12 | g.76347637A>G | CA480794046 | BBS10 | c.348T>C (p.His116=) | gnomAD v4 |
| 12 | g.76347637A>T | CA385815697 | BBS10 | c.348T>A (p.His116Gln) | |
| 12 | g.76347638T>A | CA385815699 | BBS10 | c.347A>T (p.His116Leu) | dbSNP gnomAD v2 |
| 12 | g.76347638T>C | CA385815700 | BBS10 | c.347A>G (p.His116Arg) | |
| 12 | g.76347638T>G | CA385815701 | BBS10 | c.347A>C (p.His116Pro) | gnomAD v4 |