Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346799_76346800del | CA658823427 | BBS10 | c.1187_1188del (p.Ser396TyrfsTer12) | ClinVar dbSNP gnomAD v4 |
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 |
12 | g.76346805G>T | CA385812462 | BBS10 | c.1180C>A (p.Pro394Thr) | |
12 | g.76346806T>A | CA481011356 | BBS10 | c.1179A>T (p.Ile393=) | |
12 | g.76346806T>C | CA385812465 | BBS10 | c.1179A>G (p.Ile393Met) | dbSNP gnomAD v4 |
12 | g.76346806T>G | CA481011357 | BBS10 | c.1179A>C (p.Ile393=) | |
12 | g.76346806T= | CA2047353494 | BBS10 | c.1179A= (p.Ile393=) | |
12 | g.76346808_76346809del | CA2619945584 | BBS10 | c.1178_1179del (p.Ile393ThrfsTer15) | gnomAD v4 |
12 | g.76346807A= | CA2047353495 | BBS10 | c.1178T= (p.Ile393=) | |
12 | g.76346807A>C | CA385812473 | BBS10 | c.1178T>G (p.Ile393Arg) | |
12 | g.76346807A>G | CA385812470 | BBS10 | c.1178T>C (p.Ile393Thr) | dbSNP gnomAD v4 |
12 | g.76346807A>T | CA385812469 | BBS10 | c.1178T>A (p.Ile393Lys) | |
12 | g.76346808T>A | CA385812474 | BBS10 | c.1177A>T (p.Ile393Leu) | |
12 | g.76346808T>C | CA385812475 | BBS10 | c.1177A>G (p.Ile393Val) | dbSNP gnomAD v4 |
12 | g.76346808T>G | CA385812477 | BBS10 | c.1177A>C (p.Ile393Leu) | |
12 | g.76346808T= | CA2047353496 | BBS10 | c.1177A= (p.Ile393=) | |
12 | g.76346809A>C | CA385812479 | BBS10 | c.1176T>G (p.Phe392Leu) | |
12 | g.76346809A>G | CA481011359 | BBS10 | c.1176T>C (p.Phe392=) | |
12 | g.76346809A>T | CA385812481 | BBS10 | c.1176T>A (p.Phe392Leu) | |
12 | g.76346809_76346810insG | CA2619945585 | BBS10 | c.1175_1176insC (p.Ile393TyrfsTer16) | gnomAD v4 |
12 | g.76346810A>C | CA385812483 | BBS10 | c.1175T>G (p.Phe392Cys) | |
12 | g.76346810A>G | CA385812484 | BBS10 | c.1175T>C (p.Phe392Ser) | |
12 | g.76346810A>T | CA385812486 | BBS10 | c.1175T>A (p.Phe392Tyr) | |
12 | g.76346811A>C | CA385812488 | BBS10 | c.1174T>G (p.Phe392Val) |