| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.76347030_76347033del | CA6694256 | BBS10 | c.959_962del (p.Ser320IlefsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76347030C>A | CA385813451 | BBS10 | c.955G>T (p.Val319Phe) | |
| 12 | g.76347030C= | CA2047353600 | BBS10 | c.955G= (p.Val319=) | |
| 12 | g.76347030C>G | CA6694260 | BBS10 | c.955G>C (p.Val319Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.76347030C>T | CA385813450 | BBS10 | c.955G>A (p.Val319Ile) | |
| 12 | g.76347031T>A | CA239332138 | BBS10 | c.954A>T (p.Leu318Phe) | dbSNP gnomAD v2 |
| 12 | g.76347031T>C | CA481011620 | BBS10 | c.954A>G (p.Leu318=) | gnomAD v4 |
| 12 | g.76347031T>G | CA385813457 | BBS10 | c.954A>C (p.Leu318Phe) | |
| 12 | g.76347031T= | CA2047353601 | BBS10 | c.954A= (p.Leu318=) | |
| 12 | g.76347032A>C | CA385813459 | BBS10 | c.953T>G (p.Leu318Ter) | |
| 12 | g.76347032A>G | CA385813461 | BBS10 | c.953T>C (p.Leu318Ser) | |
| 12 | g.76347032A>T | CA385813463 | BBS10 | c.953T>A (p.Leu318Ter) | |
| 12 | g.76347034del | CA2573148993 | BBS10 | c.953del (p.Leu318Ter) | ClinVar dbSNP |
| 12 | g.76347033A= | CA2047353602 | BBS10 | c.952T= (p.Leu318=) | |
| 12 | g.76347033A>C | CA6694261 | BBS10 | c.952T>G (p.Leu318Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76347033A>G | CA481011621 | BBS10 | c.952T>C (p.Leu318=) | |
| 12 | g.76347033A>T | CA385813466 | BBS10 | c.952T>A (p.Leu318Ile) | |
| 12 | g.76347034A>C | CA385813469 | BBS10 | c.951T>G (p.Asp317Glu) | |
| 12 | g.76347034A>G | CA481011623 | BBS10 | c.951T>C (p.Asp317=) | ClinVar |
| 12 | g.76347034A>T | CA385813468 | BBS10 | c.951T>A (p.Asp317Glu) | |
| 12 | g.76347035T>A | CA385813472 | BBS10 | c.950A>T (p.Asp317Val) | gnomAD v4 |
| 12 | g.76347035T>C | CA385813475 | BBS10 | c.950A>G (p.Asp317Gly) | |
| 12 | g.76347035T>G | CA385813474 | BBS10 | c.950A>C (p.Asp317Ala) | |
| 12 | g.76347036C>A | CA385813478 | BBS10 | c.949G>T (p.Asp317Tyr) | COSMIC |
| 12 | g.76347036C>G | CA385813480 | BBS10 | c.949G>C (p.Asp317His) | |
| 12 | g.76347036C>T | CA385813481 | BBS10 | c.949G>A (p.Asp317Asn) | |
| 12 | g.76347037T>A | CA481011624 | BBS10 | c.948A>T (p.Pro316=) | |
| 12 | g.76347037T>C | CA481011625 | BBS10 | c.948A>G (p.Pro316=) | |
| 12 | g.76347037T>G | CA481011626 | BBS10 | c.948A>C (p.Pro316=) | |
| 12 | g.76347038G>A | CA385813484 | BBS10 | c.947C>T (p.Pro316Leu) | gnomAD v4 |
| 12 | g.76347038G>C | CA385813486 | BBS10 | c.947C>G (p.Pro316Arg) | gnomAD v4 |
| 12 | g.76347038G>T | CA385813488 | BBS10 | c.947C>A (p.Pro316Gln) | |
| 12 | g.76347039G>A | CA385813494 | BBS10 | c.946C>T (p.Pro316Ser) | |
| 12 | g.76347039G>C | CA385813490 | BBS10 | c.946C>G (p.Pro316Ala) | ClinVar dbSNP |
| 12 | g.76347039G>T | CA385813492 | BBS10 | c.946C>A (p.Pro316Thr) | gnomAD v4 |
| 12 | g.76347042_76347044del | CA2575230730 | BBS10 | c.944_946del (p.Gln315del) | |
| 12 | g.76347040T>A | CA385813496 | BBS10 | c.945A>T (p.Gln315His) | |
| 12 | g.76347040T>C | CA481011628 | BBS10 | c.945A>G (p.Gln315=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.76347040T>G | CA385813499 | BBS10 | c.945A>C (p.Gln315His) | |
| 12 | g.76347041T>A | CA385813500 | BBS10 | c.944A>T (p.Gln315Leu) | |
| 12 | g.76347041T>C | CA385813502 | BBS10 | c.944A>G (p.Gln315Arg) | gnomAD v4 |
| 12 | g.76347041T>G | CA385813504 | BBS10 | c.944A>C (p.Gln315Pro) | |
| 12 | g.76347042G>A | CA385813506 | BBS10 | c.943C>T (p.Gln315Ter) | ClinVar dbSNP |
| 12 | g.76347042G>C | CA385813510 | BBS10 | c.943C>G (p.Gln315Glu) | |
| 12 | g.76347042G= | CA2047353603 | BBS10 | c.943C= (p.Gln315=) | |
| 12 | g.76347042G>T | CA385813508 | BBS10 | c.943C>A (p.Gln315Lys) | |
| 12 | g.76347043T>A | CA385813512 | BBS10 | c.942A>T (p.Lys314Asn) | |
| 12 | g.76347043T>C | CA6694262 | BBS10 | c.942A>G (p.Lys314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76347043T>G | CA385813514 | BBS10 | c.942A>C (p.Lys314Asn) | |
| 12 | g.76347043T= | CA2047353604 | BBS10 | c.942A= (p.Lys314=) |