Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.122742861A>C | CA358224112 | BBS12 | c.969A>C (p.Leu323Phe) | |
4 | g.122742861A>G | CA441120859 | BBS12 | c.969A>G (p.Leu323=) | |
4 | g.122742861A>T | CA358224111 | BBS12 | c.969A>T (p.Leu323Phe) | |
4 | g.122742862C>A | CA358224113 | BBS12 | c.970C>A (p.Pro324Thr) | |
4 | g.122742862C>G | CA358224114 | BBS12 | c.970C>G (p.Pro324Ala) | |
4 | g.122742862C>T | CA358224115 | BBS12 | c.970C>T (p.Pro324Ser) | |
4 | g.122742863C>A | CA358224116 | BBS12 | c.971C>A (p.Pro324His) | |
4 | g.122742863C= | CA1490417805 | BBS12 | c.971C= (p.Pro324=) | |
4 | g.122742863C>G | CA358224117 | BBS12 | c.971C>G (p.Pro324Arg) | gnomAD v4 |
4 | g.122742863C>T | CA358224118 | BBS12 | c.971C>T (p.Pro324Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.122742864T>A | CA441120860 | BBS12 | c.972T>A (p.Pro324=) | |
4 | g.122742864T>C | CA441120862 | BBS12 | c.972T>C (p.Pro324=) | |
4 | g.122742864T>G | CA441120861 | BBS12 | c.972T>G (p.Pro324=) | |
4 | g.122742865G>A | CA358224121 | BBS12 | c.973G>A (p.Glu325Lys) | |
4 | g.122742865G>C | CA358224119 | BBS12 | c.973G>C (p.Glu325Gln) | |
4 | g.122742865G>T | CA358224120 | BBS12 | c.973G>T (p.Glu325Ter) | |
4 | g.122742866A>C | CA358224122 | BBS12 | c.974A>C (p.Glu325Ala) | |
4 | g.122742866A>G | CA358224123 | BBS12 | c.974A>G (p.Glu325Gly) | |
4 | g.122742866A>T | CA358224124 | BBS12 | c.974A>T (p.Glu325Val) | |
4 | g.122742867A>C | CA358224125 | BBS12 | c.975A>C (p.Glu325Asp) | |
4 | g.122742867A>G | CA441120865 | BBS12 | c.975A>G (p.Glu325=) | ClinVar dbSNP gnomAD v4 |
4 | g.122742867A>T | CA358224126 | BBS12 | c.975A>T (p.Glu325Asp) | |
4 | g.122742868A>C | CA358224127 | BBS12 | c.976A>C (p.Thr326Pro) | |
4 | g.122742868A>G | CA358224129 | BBS12 | c.976A>G (p.Thr326Ala) | |
4 | g.122742868A>T | CA358224128 | BBS12 | c.976A>T (p.Thr326Ser) | |
4 | g.122742868_122742871delinsACTT | CA1490417806 | BBS12 | c.976_979delinsACTT (p.Thr326=) | |
4 | g.122742869C>A | CA358224130 | BBS12 | c.977C>A (p.Thr326Asn) | |
4 | g.122742869C= | CA1490417807 | BBS12 | c.977C= (p.Thr326=) | |
4 | g.122742869C>G | CA358224131 | BBS12 | c.977C>G (p.Thr326Ser) | |
4 | g.122742869C>T | CA3069356 | BBS12 | c.977C>T (p.Thr326Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.122742875_122742877del | CA3069355 | BBS12 | c.983_985del (p.Ser328del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.122742870T>A | CA241843 | BBS12 | c.978T>A (p.Thr326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.122742870T>C | CA441120869 | BBS12 | c.978T>C (p.Thr326=) | |
4 | g.122742870T>G | CA441120870 | BBS12 | c.978T>G (p.Thr326=) | ClinVar gnomAD v4 COSMIC |
4 | g.122742870T= | CA1490417808 | BBS12 | c.978T= (p.Thr326=) | |
4 | g.122742870_122742871delinsAA | CA1139658635 | BBS12 | c.978_979delinsAA (p.Ser327Thr) | ClinVar |
4 | g.122742871T>A | CA241840 | BBS12 | c.979T>A (p.Ser327Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.122742871T>C | CA358224132 | BBS12 | c.979T>C (p.Ser327Pro) | |
4 | g.122742871T>G | CA358224133 | BBS12 | c.979T>G (p.Ser327Ala) | |
4 | g.122742871T= | CA1490417809 | BBS12 | c.979T= (p.Ser327=) | |
4 | g.122742872C>A | CA358224134 | BBS12 | c.980C>A (p.Ser327Tyr) | |
4 | g.122742872C>G | CA358224135 | BBS12 | c.980C>G (p.Ser327Cys) | |
4 | g.122742872C>T | CA358224136 | BBS12 | c.980C>T (p.Ser327Phe) | |
4 | g.122742873T>A | CA441120874 | BBS12 | c.981T>A (p.Ser327=) | |
4 | g.122742873T>C | CA441120873 | BBS12 | c.981T>C (p.Ser327=) | |
4 | g.122742873T>G | CA441120872 | BBS12 | c.981T>G (p.Ser327=) | ClinVar dbSNP |
4 | g.122742874T>A | CA358224139 | BBS12 | c.982T>A (p.Ser328Thr) | |
4 | g.122742874T>C | CA358224138 | BBS12 | c.982T>C (p.Ser328Pro) | |
4 | g.122742874T>G | CA358224137 | BBS12 | c.982T>G (p.Ser328Ala) | |
4 | g.122742875C>A | CA358224142 | BBS12 | c.983C>A (p.Ser328Tyr) | COSMIC |