Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
12 | g.76346811A>G | CA385812490 | BBS10 | c.1174T>C (p.Phe392Leu) | gnomAD v4 |
12 | g.76346811A>T | CA385812491 | BBS10 | c.1174T>A (p.Phe392Ile) | |
12 | g.76346812T>A | CA481011361 | BBS10 | c.1173A>T (p.Ala391=) | |
12 | g.76346812T>C | CA481011362 | BBS10 | c.1173A>G (p.Ala391=) | ClinVar gnomAD v4 |
12 | g.76346812T>G | CA481011363 | BBS10 | c.1173A>C (p.Ala391=) | |
12 | g.76346813G>A | CA385812496 | BBS10 | c.1172C>T (p.Ala391Val) | |
12 | g.76346813G>C | CA385812494 | BBS10 | c.1172C>G (p.Ala391Gly) | |
12 | g.76346813G>T | CA385812492 | BBS10 | c.1172C>A (p.Ala391Glu) | |
12 | g.76346814C>A | CA385812498 | BBS10 | c.1171G>T (p.Ala391Ser) | |
12 | g.76346814C>G | CA385812500 | BBS10 | c.1171G>C (p.Ala391Pro) | |
12 | g.76346814C>T | CA385812502 | BBS10 | c.1171G>A (p.Ala391Thr) | |
12 | g.76346815A>C | CA385812504 | BBS10 | c.1170T>G (p.Cys390Trp) | |
12 | g.76346815A>G | CA481011365 | BBS10 | c.1170T>C (p.Cys390=) | ClinVar |
12 | g.76346815A>T | CA385812506 | BBS10 | c.1170T>A (p.Cys390Ter) |