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.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=) | |
12 | g.76347044T>A | CA385813517 | BBS10 | c.941A>T (p.Lys314Ile) | |
12 | g.76347044T>C | CA385813518 | BBS10 | c.941A>G (p.Lys314Arg) | |
12 | g.76347044T>G | CA385813520 | BBS10 | c.941A>C (p.Lys314Thr) | COSMIC |
12 | g.76347045T>A | CA385813523 | BBS10 | c.940A>T (p.Lys314Ter) | |
12 | g.76347045T>C | CA385813524 | BBS10 | c.940A>G (p.Lys314Glu) | dbSNP |
12 | g.76347045T>G | CA385813525 | BBS10 | c.940A>C (p.Lys314Gln) | |
12 | g.76347046C>A | CA481011636 | BBS10 | c.939G>T (p.Val313=) | |
12 | g.76347046C= | CA2047353605 | BBS10 | c.939G= (p.Val313=) |