| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.76346793_76346795delinsCTA | CA2047353484 | BBS10 | c.1190_1192delinsTAG (p.Ile397=) | |
| 12 | g.76346794T>A | CA481011342 | BBS10 | c.1191A>T (p.Ile397=) | |
| 12 | g.76346794T>C | CA385812370 | BBS10 | c.1191A>G (p.Ile397Met) | |
| 12 | g.76346794T>G | CA481011344 | BBS10 | c.1191A>C (p.Ile397=) | |
| 12 | g.76346796_76346797del | CA16041581 | BBS10 | c.1190_1191del (p.Ile397SerfsTer11) | ClinVar dbSNP |
| 12 | g.76346795A>C | CA385812374 | BBS10 | c.1190T>G (p.Ile397Arg) | |
| 12 | g.76346795A>G | CA385812379 | BBS10 | c.1190T>C (p.Ile397Thr) | gnomAD v4 |
| 12 | g.76346795A>T | CA385812377 | BBS10 | c.1190T>A (p.Ile397Lys) | |
| 12 | g.76346796T>A | CA385812383 | BBS10 | c.1189A>T (p.Ile397Leu) | |
| 12 | g.76346796T>C | CA6694209 | BBS10 | c.1189A>G (p.Ile397Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76346796T>G | CA385812386 | BBS10 | c.1189A>C (p.Ile397Leu) | gnomAD v4 |
| 12 | g.76346796T= | CA2047353485 | BBS10 | c.1189A= (p.Ile397=) | |
| 12 | g.76346796_76346798del | CA912974167 | BBS10 | c.1187_1189del (p.Ser396_Ile397delinsLeu) | |
| 12 | g.76346796_76346798delinsTAG | CA2047353486 | BBS10 | c.1187_1189delinsCTA (p.Ser396=) | |
| 12 | g.76346797A= | CA2047353487 | BBS10 | c.1188T= (p.Ser396=) | |
| 12 | g.76346797A>C | CA6694211 | BBS10 | c.1188T>G (p.Ser396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.76346797A>G | CA6694210 | BBS10 | c.1188T>C (p.Ser396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76346797A>T | CA481011345 | BBS10 | c.1188T>A (p.Ser396=) | |
| 12 | g.76346799_76346800del | CA658823427 | BBS10 | c.1187_1188del (p.Ser396TyrfsTer12) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76346798G>A | CA239332011 | BBS10 | c.1187C>T (p.Ser396Phe) | dbSNP |
| 12 | g.76346798G>C | CA385812402 | BBS10 | c.1187C>G (p.Ser396Cys) | dbSNP |
| 12 | g.76346798G= | CA2047353488 | BBS10 | c.1187C= (p.Ser396=) | |
| 12 | g.76346798G>T | CA385812404 | BBS10 | c.1187C>A (p.Ser396Tyr) | |
| 12 | g.76346799A= | CA2047353489 | BBS10 | c.1186T= (p.Ser396=) | |
| 12 | g.76346799A>C | CA385812408 | BBS10 | c.1186T>G (p.Ser396Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76346799A>G | CA385812410 | BBS10 | c.1186T>C (p.Ser396Pro) | |
| 12 | g.76346799A>T | CA385812413 | BBS10 | c.1186T>A (p.Ser396Thr) | |
| 12 | g.76346800G>A | CA481011349 | BBS10 | c.1185C>T (p.His395=) | ClinVar dbSNP |
| 12 | g.76346800G>C | CA336971 | BBS10 | c.1185C>G (p.His395Gln) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76346800G= | CA2047353490 | BBS10 | c.1185C= (p.His395=) | |
| 12 | g.76346800G>T | CA385812423 | BBS10 | c.1185C>A (p.His395Gln) | |
| 12 | g.76346801T>A | CA385812436 | BBS10 | c.1184A>T (p.His395Leu) | |
| 12 | g.76346801T>C | CA16021327 | BBS10 | c.1184A>G (p.His395Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.76346801T>G | CA385812434 | BBS10 | c.1184A>C (p.His395Pro) | |
| 12 | g.76346801T= | CA2047353491 | BBS10 | c.1184A= (p.His395=) | |
| 12 | g.76346801dup | CA274162 | BBS10 | c.1184dup (p.His395GlnfsTer14) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.76346802G>A | CA385812441 | BBS10 | c.1183C>T (p.His395Tyr) | |
| 12 | g.76346802G>C | CA385812444 | BBS10 | c.1183C>G (p.His395Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.76346802G= | CA2047353492 | BBS10 | c.1183C= (p.His395=) | |
| 12 | g.76346802G>T | CA385812446 | BBS10 | c.1183C>A (p.His395Asn) | |
| 12 | g.76346803T>A | CA481011352 | BBS10 | c.1182A>T (p.Pro394=) | |
| 12 | g.76346803T>C | CA481011353 | BBS10 | c.1182A>G (p.Pro394=) | |
| 12 | g.76346803T>G | CA481011354 | BBS10 | c.1182A>C (p.Pro394=) | |
| 12 | g.76346804G>A | CA385812449 | BBS10 | c.1181C>T (p.Pro394Leu) | |
| 12 | g.76346804G>C | CA385812452 | BBS10 | c.1181C>G (p.Pro394Arg) | |
| 12 | g.76346804G= | CA2047353493 | BBS10 | c.1181C= (p.Pro394=) | |
| 12 | g.76346804G>T | CA385812454 | BBS10 | c.1181C>A (p.Pro394Gln) | ClinVar dbSNP |
| 12 | g.76346804_76346814dup | CA2695217035 | BBS10 | c.1171_1181dup (p.Ser396LeufsTer6) | |
| 12 | g.76346805G>A | CA385812457 | BBS10 | c.1180C>T (p.Pro394Ser) | |
| 12 | g.76346805G>C | CA385812459 | BBS10 | c.1180C>G (p.Pro394Ala) | gnomAD v4 |