Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.122742880G>A | CA358224151 | BBS12 | c.988G>A (p.Val330Ile) | |
4 | g.122742880G>C | CA358224152 | BBS12 | c.988G>C (p.Val330Leu) | |
4 | g.122742880G>T | CA358224153 | BBS12 | c.988G>T (p.Val330Phe) | |
4 | g.122742880_122742881delinsGT | CA1490417812 | BBS12 | c.988_989delinsGT (p.Val330=) | |
4 | g.122742881T>A | CA358224156 | BBS12 | c.989T>A (p.Val330Asp) | |
4 | g.122742881T>C | CA358224155 | BBS12 | c.989T>C (p.Val330Ala) | |
4 | g.122742881T>G | CA358224154 | BBS12 | c.989T>G (p.Val330Gly) | |
4 | g.122742883del | CA1490417813 | BBS12 | c.991del (p.Cys331ValfsTer15) | dbSNP |
4 | g.122742882T>A | CA441120885 | BBS12 | c.990T>A (p.Val330=) | |
4 | g.122742882T>C | CA441120886 | BBS12 | c.990T>C (p.Val330=) | ClinVar |
4 | g.122742882T>G | CA441120887 | BBS12 | c.990T>G (p.Val330=) | |
4 | g.122742883T>A | CA358224157 | BBS12 | c.991T>A (p.Cys331Ser) | |
4 | g.122742883T>C | CA358224158 | BBS12 | c.991T>C (p.Cys331Arg) | |
4 | g.122742883T>G | CA358224159 | BBS12 | c.991T>G (p.Cys331Gly) | |
4 | g.122742884G>A | CA358224160 | BBS12 | c.992G>A (p.Cys331Tyr) | |
4 | g.122742884G>C | CA358224161 | BBS12 | c.992G>C (p.Cys331Ser) | |
4 | g.122742884G>T | CA358224162 | BBS12 | c.992G>T (p.Cys331Phe) | COSMIC |
4 | g.122742885T>A | CA358224163 | BBS12 | c.993T>A (p.Cys331Ter) | |
4 | g.122742885T>C | CA441120891 | BBS12 | c.993T>C (p.Cys331=) | |
4 | g.122742885T>G | CA358224164 | BBS12 | c.993T>G (p.Cys331Trp) | |
4 | g.122742886C>A | CA358224165 | BBS12 | c.994C>A (p.Pro332Thr) | |
4 | g.122742886C= | CA1490417814 | BBS12 | c.994C= (p.Pro332=) | |
4 | g.122742886C>G | CA3069357 | BBS12 | c.994C>G (p.Pro332Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.122742886C>T | CA358224166 | BBS12 | c.994C>T (p.Pro332Ser) | |
4 | g.122742887C>A | CA358224167 | BBS12 | c.995C>A (p.Pro332Gln) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.122742887C= | CA1490417815 | BBS12 | c.995C= (p.Pro332=) | |
4 | g.122742887C>G | CA358224168 | BBS12 | c.995C>G (p.Pro332Arg) | |
4 | g.122742887C>T | CA358224169 | BBS12 | c.995C>T (p.Pro332Leu) | |
4 | g.122742888A= | CA1490417816 | BBS12 | c.996A= (p.Pro332=) | |
4 | g.122742888A>C | CA441120892 | BBS12 | c.996A>C (p.Pro332=) | |
4 | g.122742888A>G | CA441120893 | BBS12 | c.996A>G (p.Pro332=) | dbSNP |
4 | g.122742888A>T | CA441120894 | BBS12 | c.996A>T (p.Pro332=) | |
4 | g.122742889G>A | CA358224171 | BBS12 | c.997G>A (p.Gly333Arg) | |
4 | g.122742889G>C | CA358224172 | BBS12 | c.997G>C (p.Gly333Arg) | |
4 | g.122742889G>T | CA358224170 | BBS12 | c.997G>T (p.Gly333Ter) | |
4 | g.122742890G>A | CA358224173 | BBS12 | c.998G>A (p.Gly333Glu) | dbSNP gnomAD v4 |
4 | g.122742890G>C | CA358224174 | BBS12 | c.998G>C (p.Gly333Ala) | |
4 | g.122742890G= | CA1490417817 | BBS12 | c.998G= (p.Gly333=) | |
4 | g.122742890G>T | CA358224175 | BBS12 | c.998G>T (p.Gly333Val) | |
4 | g.122742891A= | CA1490417818 | BBS12 | c.999A= (p.Gly333=) | |
4 | g.122742891A>C | CA441120896 | BBS12 | c.999A>C (p.Gly333=) | |
4 | g.122742891A>G | CA441120897 | BBS12 | c.999A>G (p.Gly333=) | gnomAD v4 |
4 | g.122742891A>T | CA441120898 | BBS12 | c.999A>T (p.Gly333=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.122742892T>A | CA358224176 | BBS12 | c.1000T>A (p.Tyr334Asn) | |
4 | g.122742892T>C | CA358224177 | BBS12 | c.1000T>C (p.Tyr334His) | |
4 | g.122742892T>G | CA358224178 | BBS12 | c.1000T>G (p.Tyr334Asp) | |
4 | g.122742893A= | CA1490417819 | BBS12 | c.1001A= (p.Tyr334=) | |
4 | g.122742893A>C | CA358224181 | BBS12 | c.1001A>C (p.Tyr334Ser) | |
4 | g.122742893A>G | CA358224179 | BBS12 | c.1001A>G (p.Tyr334Cys) | ClinVar dbSNP gnomAD v4 |
4 | g.122742893A>T | CA358224180 | BBS12 | c.1001A>T (p.Tyr334Phe) |