| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.122742961_122742989del | CA2697546895 | BBS12 | c.1069_1097del (p.Val357LeufsTer7) | |
| 4 | g.122742971_122742972delinsAG | CA1490417860 | BBS12 | c.1079_1080delinsAG (p.Glu360=) | |
| 4 | g.122742972G>A | CA441120777 | BBS12 | c.1080G>A (p.Glu360=) | gnomAD v4 |
| 4 | g.122742972G>C | CA358224350 | BBS12 | c.1080G>C (p.Glu360Asp) | |
| 4 | g.122742972G>T | CA358224351 | BBS12 | c.1080G>T (p.Glu360Asp) | |
| 4 | g.122742972_122742974dup | CA2671993388 | BBS12 | c.1080_1082dup (p.Gly361_Asp362insGly) | gnomAD v4 |
| 4 | g.122742974del | CA16040930 | BBS12 | c.1082del (p.Gly361ValfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742973G>A | CA358224353 | BBS12 | c.1081G>A (p.Gly361Ser) | |
| 4 | g.122742973G>C | CA358224352 | BBS12 | c.1081G>C (p.Gly361Arg) | |
| 4 | g.122742973G>T | CA358224354 | BBS12 | c.1081G>T (p.Gly361Cys) | |
| 4 | g.122742974G>A | CA358224355 | BBS12 | c.1082G>A (p.Gly361Asp) | |
| 4 | g.122742974G>C | CA358224356 | BBS12 | c.1082G>C (p.Gly361Ala) | |
| 4 | g.122742974G>T | CA358224357 | BBS12 | c.1082G>T (p.Gly361Val) | gnomAD v4 |
| 4 | g.122742974_122742975delinsGT | CA1490417861 | BBS12 | c.1082_1083delinsGT (p.Gly361=) | |
| 4 | g.122742974_122742975insGGGT | CA2573138027 | BBS12 | c.1082_1083insGGGT (p.Asp362GlyfsTer2) | ClinVar dbSNP |
| 4 | g.122742975T>A | CA441120778 | BBS12 | c.1083T>A (p.Gly361=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.122742975T>C | CA441120779 | BBS12 | c.1083T>C (p.Gly361=) | |
| 4 | g.122742975T>G | CA441120780 | BBS12 | c.1083T>G (p.Gly361=) | ClinVar dbSNP |
| 4 | g.122742975delinsGGGTG | CA1139658636 | BBS12 | c.1083delinsGGGTG (p.Asp362GlyfsTer13) | ClinVar dbSNP |
| 4 | g.122742976G>A | CA358224358 | BBS12 | c.1084G>A (p.Asp362Asn) | |
| 4 | g.122742976G>C | CA358224359 | BBS12 | c.1084G>C (p.Asp362His) | |
| 4 | g.122742976G>T | CA358224360 | BBS12 | c.1084G>T (p.Asp362Tyr) | |
| 4 | g.122742976dup | CA2671993389 | BBS12 | c.1084dup (p.Asp362GlyfsTer12) | gnomAD v4 |
| 4 | g.122742977A= | CA1490417862 | BBS12 | c.1085A= (p.Asp362=) | |
| 4 | g.122742977A>C | CA358224361 | BBS12 | c.1085A>C (p.Asp362Ala) | |
| 4 | g.122742977A>G | CA358224362 | BBS12 | c.1085A>G (p.Asp362Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742977A>T | CA358224363 | BBS12 | c.1085A>T (p.Asp362Val) | |
| 4 | g.122742978C>A | CA358224364 | BBS12 | c.1086C>A (p.Asp362Glu) | |
| 4 | g.122742978C>G | CA358224365 | BBS12 | c.1086C>G (p.Asp362Glu) | |
| 4 | g.122742978C>T | CA441120781 | BBS12 | c.1086C>T (p.Asp362=) | |
| 4 | g.122742979C>A | CA358224368 | BBS12 | c.1087C>A (p.Leu363Ile) | |
| 4 | g.122742979C= | CA1490417863 | BBS12 | c.1087C= (p.Leu363=) | |
| 4 | g.122742979C>G | CA358224366 | BBS12 | c.1087C>G (p.Leu363Val) | |
| 4 | g.122742979C>T | CA358224367 | BBS12 | c.1087C>T (p.Leu363Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742980_122742981del | CA2499217072 | BBS12 | c.1088_1089del (p.Leu363HisfsTer10) | ClinVar dbSNP |
| 4 | g.122742980T>A | CA358224369 | BBS12 | c.1088T>A (p.Leu363His) | |
| 4 | g.122742980T>C | CA358224370 | BBS12 | c.1088T>C (p.Leu363Pro) | |
| 4 | g.122742980T>G | CA358224371 | BBS12 | c.1088T>G (p.Leu363Arg) | |
| 4 | g.122742980_122742982delinsTCA | CA1490417864 | BBS12 | c.1088_1090delinsTCA (p.Leu363=) | |
| 4 | g.122742981C>A | CA3069370 | BBS12 | c.1089C>A (p.Leu363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742981C= | CA1490417865 | BBS12 | c.1089C= (p.Leu363=) | |
| 4 | g.122742981C>G | CA441120782 | BBS12 | c.1089C>G (p.Leu363=) | |
| 4 | g.122742981C>T | CA441120783 | BBS12 | c.1089C>T (p.Leu363=) | COSMIC |
| 4 | g.122742983_122742984del | CA917294031 | BBS12 | c.1091_1092del (p.Thr364ArgfsTer9) | dbSNP |
| 4 | g.122742982A>C | CA358224372 | BBS12 | c.1090A>C (p.Thr364Pro) | gnomAD v4 |
| 4 | g.122742982A>G | CA358224373 | BBS12 | c.1090A>G (p.Thr364Ala) | |
| 4 | g.122742982A>T | CA358224374 | BBS12 | c.1090A>T (p.Thr364Ser) | |
| 4 | g.122742983C>A | CA358224375 | BBS12 | c.1091C>A (p.Thr364Lys) | |
| 4 | g.122742983C>G | CA358224376 | BBS12 | c.1091C>G (p.Thr364Arg) | |
| 4 | g.122742983C>T | CA358224377 | BBS12 | c.1091C>T (p.Thr364Ile) |