Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346324_76346328del | CA16041578 | BBS10 | c.1664_1668del (p.Ile555AsnfsTer13) | ClinVar dbSNP gnomAD v4 |
12 | g.76346324C>A | CA385810627 | BBS10 | c.1661G>T (p.Arg554Ile) | gnomAD v4 |
12 | g.76346324C>G | CA385810628 | BBS10 | c.1661G>C (p.Arg554Thr) | |
12 | g.76346324C>T | CA385810630 | BBS10 | c.1661G>A (p.Arg554Lys) | gnomAD v4 |
12 | g.76346325T>A | CA385810632 | BBS10 | c.1660A>T (p.Arg554Ter) | |
12 | g.76346325T>C | CA385810633 | BBS10 | c.1660A>G (p.Arg554Gly) | |
12 | g.76346325T>G | CA481011246 | BBS10 | c.1660A>C (p.Arg554=) | |
12 | g.76346326A>C | CA385810636 | BBS10 | c.1659T>G (p.Asn553Lys) | |
12 | g.76346326A>G | CA481011248 | BBS10 | c.1659T>C (p.Asn553=) | |
12 | g.76346326A>T | CA385810638 | BBS10 | c.1659T>A (p.Asn553Lys) | |
12 | g.76346327T>A | CA385810642 | BBS10 | c.1658A>T (p.Asn553Ile) | |
12 | g.76346327T>C | CA385810639 | BBS10 | c.1658A>G (p.Asn553Ser) | |
12 | g.76346327T>G | CA385810641 | BBS10 | c.1658A>C (p.Asn553Thr) | |
12 | g.76346328T>A | CA385810643 | BBS10 | c.1657A>T (p.Asn553Tyr) | |
12 | g.76346328T>C | CA385810645 | BBS10 | c.1657A>G (p.Asn553Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346328T>G | CA385810646 | BBS10 | c.1657A>C (p.Asn553His) | |
12 | g.76346328T= | CA2047353260 | BBS10 | c.1657A= (p.Asn553=) | |
12 | g.76346329T>A | CA481011249 | BBS10 | c.1656A>T (p.Gly552=) | |
12 | g.76346329T>C | CA481011250 | BBS10 | c.1656A>G (p.Gly552=) | |
12 | g.76346329T>G | CA481011251 | BBS10 | c.1656A>C (p.Gly552=) | ClinVar dbSNP |
12 | g.76346330C>A | CA385810647 | BBS10 | c.1655G>T (p.Gly552Val) | |
12 | g.76346330C>G | CA385810649 | BBS10 | c.1655G>C (p.Gly552Ala) | |
12 | g.76346330C>T | CA385810650 | BBS10 | c.1655G>A (p.Gly552Glu) | gnomAD v4 |
12 | g.76346333del | CA2726584723 | BBS10 | c.1655del (p.Gly552GlufsTer4) | dbSNP |
12 | g.76346332_76346333del | CA2695199111 | BBS10 | c.1654_1655del (p.Gly552LysfsTer2) | ClinVar |
12 | g.76346331C>A | CA385810651 | BBS10 | c.1654G>T (p.Gly552Ter) | ClinVar dbSNP |
12 | g.76346331C>G | CA385810653 | BBS10 | c.1654G>C (p.Gly552Arg) | |
12 | g.76346331C>T | CA385810655 | BBS10 | c.1654G>A (p.Gly552Arg) | COSMIC |
12 | g.76346332C>A | CA385810657 | BBS10 | c.1653G>T (p.Arg551Ser) | |
12 | g.76346332C>G | CA385810658 | BBS10 | c.1653G>C (p.Arg551Ser) | |
12 | g.76346332C>T | CA481011253 | BBS10 | c.1653G>A (p.Arg551=) | |
12 | g.76346333C>A | CA385810663 | BBS10 | c.1652G>T (p.Arg551Met) | |
12 | g.76346333C= | CA2047353261 | BBS10 | c.1652G= (p.Arg551=) | |
12 | g.76346333C>G | CA385810662 | BBS10 | c.1652G>C (p.Arg551Thr) | |
12 | g.76346333C>T | CA385810660 | BBS10 | c.1652G>A (p.Arg551Lys) | dbSNP |
12 | g.76346334T>A | CA385810665 | BBS10 | c.1651A>T (p.Arg551Trp) | |
12 | g.76346334T>C | CA385810668 | BBS10 | c.1651A>G (p.Arg551Gly) | |
12 | g.76346334T>G | CA481011255 | BBS10 | c.1651A>C (p.Arg551=) | |
12 | g.76346335T>A | CA481011258 | BBS10 | c.1650A>T (p.Thr550=) | |
12 | g.76346335T>C | CA481011257 | BBS10 | c.1650A>G (p.Thr550=) | |
12 | g.76346335T>G | CA481011256 | BBS10 | c.1650A>C (p.Thr550=) | |
12 | g.76346336G>A | CA385810669 | BBS10 | c.1649C>T (p.Thr550Ile) | |
12 | g.76346336G>C | CA385810671 | BBS10 | c.1649C>G (p.Thr550Arg) | gnomAD v4 |
12 | g.76346336G>T | CA385810673 | BBS10 | c.1649C>A (p.Thr550Lys) | |
12 | g.76346337T>A | CA385810675 | BBS10 | c.1648A>T (p.Thr550Ser) | |
12 | g.76346337T>C | CA385810678 | BBS10 | c.1648A>G (p.Thr550Ala) | |
12 | g.76346337T>G | CA385810680 | BBS10 | c.1648A>C (p.Thr550Pro) | |
12 | g.76346338T>A | CA481011262 | BBS10 | c.1647A>T (p.Ser549=) | |
12 | g.76346338T>C | CA481011263 | BBS10 | c.1647A>G (p.Ser549=) | |
12 | g.76346338T>G | CA481011264 | BBS10 | c.1647A>C (p.Ser549=) |