Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346895del | CA273303 | BBS10 | c.1091del (p.Asn364ThrfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346895T>A | CA385812811 | BBS10 | c.1090A>T (p.Asn364Tyr) | |
12 | g.76346895T>C | CA385812813 | BBS10 | c.1090A>G (p.Asn364Asp) | gnomAD v4 |
12 | g.76346895T>G | CA385812814 | BBS10 | c.1090A>C (p.Asn364His) | |
12 | g.76346896A>C | CA481011346 | BBS10 | c.1089T>G (p.Pro363=) | |
12 | g.76346896A>G | CA481011347 | BBS10 | c.1089T>C (p.Pro363=) | |
12 | g.76346896A>T | CA481011348 | BBS10 | c.1089T>A (p.Pro363=) | |
12 | g.76346897G>A | CA239332081 | BBS10 | c.1088C>T (p.Pro363Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346897G>C | CA385812817 | BBS10 | c.1088C>G (p.Pro363Arg) | |
12 | g.76346897G= | CA2047353535 | BBS10 | c.1088C= (p.Pro363=) | |
12 | g.76346897G>T | CA385812818 | BBS10 | c.1088C>A (p.Pro363His) | |
12 | g.76346898G>A | CA385812820 | BBS10 | c.1087C>T (p.Pro363Ser) | |
12 | g.76346898G>C | CA385812822 | BBS10 | c.1087C>G (p.Pro363Ala) | gnomAD v4 |
12 | g.76346898G>T | CA385812824 | BBS10 | c.1087C>A (p.Pro363Thr) | |
12 | g.76346899T>A | CA481011350 | BBS10 | c.1086A>T (p.Ile362=) | |
12 | g.76346899T>C | CA385812826 | BBS10 | c.1086A>G (p.Ile362Met) | |
12 | g.76346899T>G | CA481011351 | BBS10 | c.1086A>C (p.Ile362=) | |
12 | g.76346900A>C | CA385812828 | BBS10 | c.1085T>G (p.Ile362Arg) | |
12 | g.76346900A>G | CA385812830 | BBS10 | c.1085T>C (p.Ile362Thr) | |
12 | g.76346900A>T | CA385812832 | BBS10 | c.1085T>A (p.Ile362Lys) | |
12 | g.76346901T>A | CA385812835 | BBS10 | c.1084A>T (p.Ile362Leu) | |
12 | g.76346901T>C | CA385812837 | BBS10 | c.1084A>G (p.Ile362Val) | |
12 | g.76346901T>G | CA385812834 | BBS10 | c.1084A>C (p.Ile362Leu) | |
12 | g.76346902T>A | CA385812839 | BBS10 | c.1083A>T (p.Glu361Asp) | |
12 | g.76346902T>C | CA481011355 | BBS10 | c.1083A>G (p.Glu361=) | |
12 | g.76346902T>G | CA385812841 | BBS10 | c.1083A>C (p.Glu361Asp) | |
12 | g.76346903T>A | CA385812843 | BBS10 | c.1082A>T (p.Glu361Val) | |
12 | g.76346903T>C | CA385812845 | BBS10 | c.1082A>G (p.Glu361Gly) | |
12 | g.76346903T>G | CA385812848 | BBS10 | c.1082A>C (p.Glu361Ala) | |
12 | g.76346904C>A | CA385812851 | BBS10 | c.1081G>T (p.Glu361Ter) | dbSNP gnomAD v4 |
12 | g.76346904C= | CA2047353536 | BBS10 | c.1081G= (p.Glu361=) | |
12 | g.76346904C>G | CA385812853 | BBS10 | c.1081G>C (p.Glu361Gln) | |
12 | g.76346904C>T | CA385812855 | BBS10 | c.1081G>A (p.Glu361Lys) | ClinVar dbSNP gnomAD v4 |
12 | g.76346907_76346908del | CA2575230728 | BBS10 | c.1080_1081del (p.Cys360Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.76346905A>C | CA385812857 | BBS10 | c.1080T>G (p.Cys360Trp) | gnomAD v4 |
12 | g.76346905A>G | CA481011358 | BBS10 | c.1080T>C (p.Cys360=) | |
12 | g.76346905A>T | CA385812859 | BBS10 | c.1080T>A (p.Cys360Ter) | |
12 | g.76346906C>A | CA385812863 | BBS10 | c.1079G>T (p.Cys360Phe) | |
12 | g.76346906C>G | CA385812865 | BBS10 | c.1079G>C (p.Cys360Ser) | |
12 | g.76346906C>T | CA385812866 | BBS10 | c.1079G>A (p.Cys360Tyr) | gnomAD v4 |
12 | g.76346907A>C | CA385812874 | BBS10 | c.1078T>G (p.Cys360Gly) | |
12 | g.76346907A>G | CA385812871 | BBS10 | c.1078T>C (p.Cys360Arg) | |
12 | g.76346907A>T | CA385812869 | BBS10 | c.1078T>A (p.Cys360Ser) | |
12 | g.76346908C>A | CA385812875 | BBS10 | c.1077G>T (p.Gln359His) | |
12 | g.76346908C>G | CA385812876 | BBS10 | c.1077G>C (p.Gln359His) | |
12 | g.76346908C>T | CA481011360 | BBS10 | c.1077G>A (p.Gln359=) | ClinVar dbSNP gnomAD v4 |
12 | g.76346909del | CA2695199115 | BBS10 | c.1076del (p.Gln359ArgfsTer10) | ClinVar |
12 | g.76346909T>A | CA385812877 | BBS10 | c.1076A>T (p.Gln359Leu) | |
12 | g.76346909T>C | CA385812878 | BBS10 | c.1076A>G (p.Gln359Arg) | |
12 | g.76346909T>G | CA385812879 | BBS10 | c.1076A>C (p.Gln359Pro) |