Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208124220_208124221delinsCT | CA1323928916 | CRYGD | c.143_144delinsAG (p.Gln48=) n.97+4995_97+4996delinsCT | |
2 | g.208124221del | CA539389073 | CRYGD | c.143del (p.Gln48ArgfsTer?) n.97+4996del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124221T>A | CA350092682 | CRYGD | c.143A>T (p.Gln48Leu) n.97+4996T>A | |
2 | g.208124221T>C | CA350092683 | CRYGD | c.143A>G (p.Gln48Arg) n.97+4996T>C | gnomAD v4 |
2 | g.208124221T>G | CA350092684 | CRYGD | c.143A>C (p.Gln48Pro) n.97+4996T>G | |
2 | g.208124222G>A | CA350092685 | CRYGD | c.142C>T (p.Gln48Ter) n.97+4997G>A | |
2 | g.208124222G>C | CA350092687 | CRYGD | c.142C>G (p.Gln48Glu) n.97+4997G>C | |
2 | g.208124222G>T | CA350092686 | CRYGD | c.142C>A (p.Gln48Lys) n.97+4997G>T | |
2 | g.208124223C>A | CA350092688 | CRYGD | c.141G>T (p.Glu47Asp) n.97+4998C>A | |
2 | g.208124223C= | CA1323928917 | CRYGD | c.141G= (p.Glu47=) n.97+4998C= | |
2 | g.208124223C>G | CA350092689 | CRYGD | c.141G>C (p.Glu47Asp) n.97+4998C>G | dbSNP |
2 | g.208124223C>T | CA430964633 | CRYGD | c.141G>A (p.Glu47=) n.97+4998C>T | |
2 | g.208124224T>A | CA350092690 | CRYGD | c.140A>T (p.Glu47Val) n.97+4999T>A | |
2 | g.208124224T>C | CA350092691 | CRYGD | c.140A>G (p.Glu47Gly) n.97+4999T>C | gnomAD v4 |
2 | g.208124224T>G | CA350092692 | CRYGD | c.140A>C (p.Glu47Ala) n.97+4999T>G | |
2 | g.208124225C>A | CA350092693 | CRYGD | c.139G>T (p.Glu47Ter) n.97+5000C>A | |
2 | g.208124225C= | CA1323928918 | CRYGD | c.139G= (p.Glu47=) n.97+5000C= | |
2 | g.208124225C>G | CA350092694 | CRYGD | c.139G>C (p.Glu47Gln) n.97+5000C>G | |
2 | g.208124225C>T | CA350092695 | CRYGD | c.139G>A (p.Glu47Lys) n.97+5000C>T | dbSNP |
2 | g.208124226A= | CA1323928919 | CRYGD | c.138T= (p.Tyr46=) n.97+5001A= | |
2 | g.208124226A>C | CA350092696 | CRYGD | c.138T>G (p.Tyr46Ter) n.97+5001A>C | |
2 | g.208124226A>G | CA430964634 | CRYGD | c.138T>C (p.Tyr46=) n.97+5001A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124226A>T | CA350092697 | CRYGD | c.138T>A (p.Tyr46Ter) n.97+5001A>T | |
2 | g.208124227T>A | CA350092699 | CRYGD | c.137A>T (p.Tyr46Phe) n.97+5002T>A | COSMIC |
2 | g.208124227T>C | CA2077725 | CRYGD | c.137A>G (p.Tyr46Cys) n.97+5002T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124227T>G | CA350092698 | CRYGD | c.137A>C (p.Tyr46Ser) n.97+5002T>G | |
2 | g.208124227T= | CA1323928920 | CRYGD | c.137A= (p.Tyr46=) n.97+5002T= | |
2 | g.208124228A>C | CA350092700 | CRYGD | c.136T>G (p.Tyr46Asp) n.97+5003A>C | |
2 | g.208124228A>G | CA350092702 | CRYGD | c.136T>C (p.Tyr46His) n.97+5003A>G | |
2 | g.208124228A>T | CA350092701 | CRYGD | c.136T>A (p.Tyr46Asn) n.97+5003A>T | |
2 | g.208124229G>A | CA430964635 | CRYGD | c.135C>T (p.Leu45=) n.97+5004G>A | |
2 | g.208124229G>C | CA430964637 | CRYGD | c.135C>G (p.Leu45=) n.97+5004G>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124229G= | CA1323928921 | CRYGD | c.135C= (p.Leu45=) n.97+5004G= | |
2 | g.208124229G>T | CA430964636 | CRYGD | c.135C>A (p.Leu45=) n.97+5004G>T | |
2 | g.208124230A= | CA1323928922 | CRYGD | c.134T= (p.Leu45=) n.97+5005A= | |
2 | g.208124230A>C | CA350092703 | CRYGD | c.134T>G (p.Leu45Arg) n.97+5005A>C | |
2 | g.208124230A>G | CA236116 | CRYGD | c.134T>C (p.Leu45Pro) n.97+5005A>G | ClinVar dbSNP |
2 | g.208124230A>T | CA350092704 | CRYGD | c.134T>A (p.Leu45His) n.97+5005A>T | |
2 | g.208124231G>A | CA350092705 | CRYGD | c.133C>T (p.Leu45Phe) n.97+5006G>A | |
2 | g.208124231G>C | CA350092706 | CRYGD | c.133C>G (p.Leu45Val) n.97+5006G>C | |
2 | g.208124231G>T | CA350092707 | CRYGD | c.133C>A (p.Leu45Ile) n.97+5006G>T | |
2 | g.208124232C>A | CA350092708 | CRYGD | c.132G>T (p.Met44Ile) n.97+5007C>A | |
2 | g.208124232C= | CA1323928923 | CRYGD | c.132G= (p.Met44=) n.97+5007C= | |
2 | g.208124232C>G | CA350092709 | CRYGD | c.132G>C (p.Met44Ile) n.97+5007C>G | |
2 | g.208124232C>T | CA2077726 | CRYGD | c.132G>A (p.Met44Ile) n.97+5007C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124233A= | CA1323928924 | CRYGD | c.131T= (p.Met44=) n.97+5008A= | |
2 | g.208124233A>C | CA350092710 | CRYGD | c.131T>G (p.Met44Arg) n.97+5008A>C | dbSNP gnomAD v4 |
2 | g.208124233A>G | CA350092711 | CRYGD | c.131T>C (p.Met44Thr) n.97+5008A>G | |
2 | g.208124233A>T | CA350092712 | CRYGD | c.131T>A (p.Met44Lys) n.97+5008A>T | |
2 | g.208124234T>A | CA64607801 | CRYGD | c.130A>T (p.Met44Leu) n.97+5009T>A | dbSNP gnomAD v4 |