Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.122742961_122742989del | CA2697546895 | BBS12 | c.1069_1097del (p.Val357LeufsTer7) | ClinVar |
4 | g.122742961G>A | CA3069369 | BBS12 | c.1069G>A (p.Val357Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.122742961G>C | CA358224326 | BBS12 | c.1069G>C (p.Val357Leu) | |
4 | g.122742961G= | CA1490417854 | BBS12 | c.1069G= (p.Val357=) | |
4 | g.122742961G>T | CA358224327 | BBS12 | c.1069G>T (p.Val357Phe) | |
4 | g.122742962T>A | CA358224328 | BBS12 | c.1070T>A (p.Val357Asp) | gnomAD v4 |
4 | g.122742962T>C | CA358224329 | BBS12 | c.1070T>C (p.Val357Ala) | |
4 | g.122742962T>G | CA358224330 | BBS12 | c.1070T>G (p.Val357Gly) | |
4 | g.122742963T>A | CA441120769 | BBS12 | c.1071T>A (p.Val357=) | |
4 | g.122742963T>C | CA441120770 | BBS12 | c.1071T>C (p.Val357=) | |
4 | g.122742963T>G | CA441120771 | BBS12 | c.1071T>G (p.Val357=) | |
4 | g.122742965_122742966del | CA2695198524 | BBS12 | c.1073_1074del (p.Leu358HisfsTer2) | ClinVar |
4 | g.122742964C>A | CA358224331 | BBS12 | c.1072C>A (p.Leu358Ile) | COSMIC |
4 | g.122742964C= | CA1490417855 | BBS12 | c.1072C= (p.Leu358=) | |
4 | g.122742964C>G | CA358224332 | BBS12 | c.1072C>G (p.Leu358Val) | gnomAD v4 |
4 | g.122742964C>T | CA358224333 | BBS12 | c.1072C>T (p.Leu358Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.122742965T>A | CA358224334 | BBS12 | c.1073T>A (p.Leu358His) | |
4 | g.122742965T>C | CA358224335 | BBS12 | c.1073T>C (p.Leu358Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.122742965T>G | CA358224336 | BBS12 | c.1073T>G (p.Leu358Arg) | |
4 | g.122742965T= | CA1490417856 | BBS12 | c.1073T= (p.Leu358=) | |
4 | g.122742966C>A | CA441120772 | BBS12 | c.1074C>A (p.Leu358=) | |
4 | g.122742966C= | CA1490417857 | BBS12 | c.1074C= (p.Leu358=) | |
4 | g.122742966C>G | CA441120773 | BBS12 | c.1074C>G (p.Leu358=) | |
4 | g.122742966C>T | CA441120774 | BBS12 | c.1074C>T (p.Leu358=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.122742967A>C | CA358224339 | BBS12 | c.1075A>C (p.Ile359Leu) | gnomAD v4 |
4 | g.122742967A>G | CA358224338 | BBS12 | c.1075A>G (p.Ile359Val) | gnomAD v4 |
4 | g.122742967A>T | CA358224337 | BBS12 | c.1075A>T (p.Ile359Phe) | |
4 | g.122742968T>A | CA358224340 | BBS12 | c.1076T>A (p.Ile359Asn) | |
4 | g.122742968T>C | CA358224341 | BBS12 | c.1076T>C (p.Ile359Thr) | ClinVar dbSNP |
4 | g.122742968T>G | CA358224342 | BBS12 | c.1076T>G (p.Ile359Ser) | |
4 | g.122742968T= | CA1490417858 | BBS12 | c.1076T= (p.Ile359=) | |
4 | g.122742969T>A | CA441120775 | BBS12 | c.1077T>A (p.Ile359=) | |
4 | g.122742969T>C | CA441120776 | BBS12 | c.1077T>C (p.Ile359=) | |
4 | g.122742969T>G | CA358224343 | BBS12 | c.1077T>G (p.Ile359Met) | |
4 | g.122742970G>A | CA358224344 | BBS12 | c.1078G>A (p.Glu360Lys) | COSMIC |
4 | g.122742970G>C | CA358224345 | BBS12 | c.1078G>C (p.Glu360Gln) | |
4 | g.122742970G= | CA1490417859 | BBS12 | c.1078G= (p.Glu360=) | |
4 | g.122742970G>T | CA358224346 | BBS12 | c.1078G>T (p.Glu360Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.122742971A>C | CA358224347 | BBS12 | c.1079A>C (p.Glu360Ala) | |
4 | g.122742971A>G | CA358224348 | BBS12 | c.1079A>G (p.Glu360Gly) | |
4 | g.122742971A>T | CA358224349 | BBS12 | c.1079A>T (p.Glu360Val) | |
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) |