Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208124188C>A | CA350092612 | CRYGD | c.176G>T (p.Arg59Leu) n.97+4963C>A | |
2 | g.208124188C= | CA1323928900 | CRYGD | c.176G= (p.Arg59=) n.97+4963C= | |
2 | g.208124188C>G | CA350092613 | CRYGD | c.176G>C (p.Arg59Pro) n.97+4963C>G | |
2 | g.208124188C>T | CA214961 | CRYGD | c.176G>A (p.Arg59His) n.97+4963C>T | ClinVar dbSNP |
2 | g.208124189G>A | CA2077715 | CRYGD | c.175C>T (p.Arg59Cys) n.97+4964G>A | dbSNP ExAC gnomAD v4 |
2 | g.208124189G>C | CA350092614 | CRYGD | c.175C>G (p.Arg59Gly) n.97+4964G>C | gnomAD v4 |
2 | g.208124189G= | CA1323928901 | CRYGD | c.175C= (p.Arg59=) n.97+4964G= | |
2 | g.208124189G>T | CA350092615 | CRYGD | c.175C>A (p.Arg59Ser) n.97+4964G>T | gnomAD v4 |
2 | g.208124190C>A | CA430964612 | CRYGD | c.174G>T (p.Leu58=) n.97+4965C>A | |
2 | g.208124190C>G | CA430964613 | CRYGD | c.174G>C (p.Leu58=) n.97+4965C>G | |
2 | g.208124190C>T | CA430964614 | CRYGD | c.174G>A (p.Leu58=) n.97+4965C>T | |
2 | g.208124191A= | CA1323928902 | CRYGD | c.173T= (p.Leu58=) n.97+4966A= | |
2 | g.208124191A>C | CA2077716 | CRYGD | c.173T>G (p.Leu58Arg) n.97+4966A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124191A>G | CA350092617 | CRYGD | c.173T>C (p.Leu58Pro) n.97+4966A>G | |
2 | g.208124191A>T | CA350092616 | CRYGD | c.173T>A (p.Leu58Gln) n.97+4966A>T | |
2 | g.208124192G>A | CA430964615 | CRYGD | c.172C>T (p.Leu58=) n.97+4967G>A | COSMIC |
2 | g.208124192G>C | CA350092618 | CRYGD | c.172C>G (p.Leu58Val) n.97+4967G>C | |
2 | g.208124192G>T | CA350092619 | CRYGD | c.172C>A (p.Leu58Met) n.97+4967G>T | |
2 | g.208124193G>A | CA430964616 | CRYGD | c.171C>T (p.Phe57=) n.97+4968G>A | dbSNP |
2 | g.208124193G>C | CA350092620 | CRYGD | c.171C>G (p.Phe57Leu) n.97+4968G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124193G= | CA1323928903 | CRYGD | c.171C= (p.Phe57=) n.97+4968G= | |
2 | g.208124193G>T | CA350092621 | CRYGD | c.171C>A (p.Phe57Leu) n.97+4968G>T | gnomAD v4 |
2 | g.208124194A>C | CA350092622 | CRYGD | c.170T>G (p.Phe57Cys) n.97+4969A>C | |
2 | g.208124194A>G | CA350092623 | CRYGD | c.170T>C (p.Phe57Ser) n.97+4969A>G | gnomAD v4 |
2 | g.208124194A>T | CA350092624 | CRYGD | c.170T>A (p.Phe57Tyr) n.97+4969A>T | gnomAD v4 |
2 | g.208124195A>C | CA350092625 | CRYGD | c.169T>G (p.Phe57Val) n.97+4970A>C | |
2 | g.208124195A>G | CA350092626 | CRYGD | c.169T>C (p.Phe57Leu) n.97+4970A>G | gnomAD v4 |
2 | g.208124195A>T | CA350092627 | CRYGD | c.169T>A (p.Phe57Ile) n.97+4970A>T | |
2 | g.208124196G>A | CA430964617 | CRYGD | c.168C>T (p.Tyr56=) n.97+4971G>A | |
2 | g.208124196G>C | CA2077717 | CRYGD | c.168C>G (p.Tyr56Ter) n.97+4971G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124196G= | CA1323928904 | CRYGD | c.168C= (p.Tyr56=) n.97+4971G= | |
2 | g.208124196G>T | CA350092628 | CRYGD | c.168C>A (p.Tyr56Ter) n.97+4971G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124197T>A | CA350092629 | CRYGD | c.167A>T (p.Tyr56Phe) n.97+4972T>A | |
2 | g.208124197T>C | CA350092631 | CRYGD | c.167A>G (p.Tyr56Cys) n.97+4972T>C | |
2 | g.208124197T>G | CA350092630 | CRYGD | c.167A>C (p.Tyr56Ser) n.97+4972T>G | |
2 | g.208124198_208124200dup | CA2077718 | CRYGD | c.165_167dup (p.Tyr56Ter) n.97+4973_97+4975dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124198A>C | CA350092632 | CRYGD | c.166T>G (p.Tyr56Asp) n.97+4973A>C | |
2 | g.208124198A>G | CA350092633 | CRYGD | c.166T>C (p.Tyr56His) n.97+4973A>G | |
2 | g.208124198A>T | CA350092634 | CRYGD | c.166T>A (p.Tyr56Asn) n.97+4973A>T | |
2 | g.208124199C>A | CA350092635 | CRYGD | c.165G>T (p.Gln55His) n.97+4974C>A | |
2 | g.208124199C>G | CA350092636 | CRYGD | c.165G>C (p.Gln55His) n.97+4974C>G | gnomAD v4 |
2 | g.208124199C>T | CA430964618 | CRYGD | c.165G>A (p.Gln55=) n.97+4974C>T | |
2 | g.208124200T>A | CA350092637 | CRYGD | c.164A>T (p.Gln55Leu) n.97+4975T>A | |
2 | g.208124200T>C | CA2077719 | CRYGD | c.164A>G (p.Gln55Arg) n.97+4975T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124200T>G | CA350092638 | CRYGD | c.164A>C (p.Gln55Pro) n.97+4975T>G | |
2 | g.208124200T= | CA1323928905 | CRYGD | c.164A= (p.Gln55=) n.97+4975T= | |
2 | g.208124201G>A | CA350092639 | CRYGD | c.163C>T (p.Gln55Ter) n.97+4976G>A | |
2 | g.208124201G>C | CA350092640 | CRYGD | c.163C>G (p.Gln55Glu) n.97+4976G>C | gnomAD v4 |
2 | g.208124201G>T | CA350092641 | CRYGD | c.163C>A (p.Gln55Lys) n.97+4976G>T | |
2 | g.208124203_208124205del | CA2697550357 | CRYGD | c.161_163del (p.Leu54del) n.97+4978_97+4980del | ClinVar |