Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.122742855A= | CA1490417803 | BBS12 | c.963A= (p.Pro321=) | |
4 | g.122742855A>C | CA441120853 | BBS12 | c.963A>C (p.Pro321=) | |
4 | g.122742855A>G | CA3069354 | BBS12 | c.963A>G (p.Pro321=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.122742855A>T | CA441120854 | BBS12 | c.963A>T (p.Pro321=) | |
4 | g.122742856G>A | CA358224100 | BBS12 | c.964G>A (p.Gly322Ser) | gnomAD v4 |
4 | g.122742856G>C | CA358224101 | BBS12 | c.964G>C (p.Gly322Arg) | |
4 | g.122742856G>T | CA358224102 | BBS12 | c.964G>T (p.Gly322Cys) | |
4 | g.122742857G>A | CA358224103 | BBS12 | c.965G>A (p.Gly322Asp) | |
4 | g.122742857G>C | CA358224104 | BBS12 | c.965G>C (p.Gly322Ala) | gnomAD v4 |
4 | g.122742857G>T | CA358224105 | BBS12 | c.965G>T (p.Gly322Val) | |
4 | g.122742858C>A | CA441120857 | BBS12 | c.966C>A (p.Gly322=) | gnomAD v4 |
4 | g.122742858C>G | CA441120856 | BBS12 | c.966C>G (p.Gly322=) | |
4 | g.122742858C>T | CA441120855 | BBS12 | c.966C>T (p.Gly322=) | |
4 | g.122742859T>A | CA358224106 | BBS12 | c.967T>A (p.Leu323Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.122742859T>C | CA441120858 | BBS12 | c.967T>C (p.Leu323=) | |
4 | g.122742859T>G | CA358224107 | BBS12 | c.967T>G (p.Leu323Val) | |
4 | g.122742859T= | CA1490417804 | BBS12 | c.967T= (p.Leu323=) | |
4 | g.122742860T>A | CA358224108 | BBS12 | c.968T>A (p.Leu323Ter) | |
4 | g.122742860T>C | CA358224109 | BBS12 | c.968T>C (p.Leu323Ser) | |
4 | g.122742860T>G | CA358224110 | BBS12 | c.968T>G (p.Leu323Ter) | |
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 |