Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208124214G>A | CA430964628 | CRYGD | c.150C>T (p.Asn50=) n.97+4989G>A | |
2 | g.208124214G>C | CA350092667 | CRYGD | c.150C>G (p.Asn50Lys) n.97+4989G>C | gnomAD v4 |
2 | g.208124214G= | CA1323928912 | CRYGD | c.150C= (p.Asn50=) n.97+4989G= | |
2 | g.208124214G>T | CA2077724 | CRYGD | c.150C>A (p.Asn50Lys) n.97+4989G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124215T>A | CA350092670 | CRYGD | c.149A>T (p.Asn50Ile) n.97+4990T>A | |
2 | g.208124215T>C | CA350092669 | CRYGD | c.149A>G (p.Asn50Ser) n.97+4990T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124215T>G | CA350092668 | CRYGD | c.149A>C (p.Asn50Thr) n.97+4990T>G | |
2 | g.208124215T= | CA1323928913 | CRYGD | c.149A= (p.Asn50=) n.97+4990T= | |
2 | g.208124216T>A | CA350092671 | CRYGD | c.148A>T (p.Asn50Tyr) n.97+4991T>A | |
2 | g.208124216T>C | CA350092672 | CRYGD | c.148A>G (p.Asn50Asp) n.97+4991T>C | dbSNP |
2 | g.208124216T>G | CA350092673 | CRYGD | c.148A>C (p.Asn50His) n.97+4991T>G | |
2 | g.208124216T= | CA1323928914 | CRYGD | c.148A= (p.Asn50=) n.97+4991T= | |
2 | g.208124217G>A | CA430964629 | CRYGD | c.147C>T (p.Pro49=) n.97+4992G>A | |
2 | g.208124217G>C | CA430964630 | CRYGD | c.147C>G (p.Pro49=) n.97+4992G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124217G= | CA1323928915 | CRYGD | c.147C= (p.Pro49=) n.97+4992G= | |
2 | g.208124217G>T | CA430964631 | CRYGD | c.147C>A (p.Pro49=) n.97+4992G>T | gnomAD v4 |
2 | g.208124218G>A | CA350092674 | CRYGD | c.146C>T (p.Pro49Leu) n.97+4993G>A | |
2 | g.208124218G>C | CA350092675 | CRYGD | c.146C>G (p.Pro49Arg) n.97+4993G>C | gnomAD v4 |
2 | g.208124218G>T | CA350092676 | CRYGD | c.146C>A (p.Pro49His) n.97+4993G>T | |
2 | g.208124219G>A | CA350092679 | CRYGD | c.145C>T (p.Pro49Ser) n.97+4994G>A | |
2 | g.208124219G>C | CA350092677 | CRYGD | c.145C>G (p.Pro49Ala) n.97+4994G>C | |
2 | g.208124219G>T | CA350092678 | CRYGD | c.145C>A (p.Pro49Thr) n.97+4994G>T | |
2 | g.208124220C>A | CA350092680 | CRYGD | c.144G>T (p.Gln48His) n.97+4995C>A | |
2 | g.208124220C>G | CA350092681 | CRYGD | c.144G>C (p.Gln48His) n.97+4995C>G | |
2 | g.208124220C>T | CA430964632 | CRYGD | c.144G>A (p.Gln48=) n.97+4995C>T | gnomAD v4 |
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 |
2 | g.208124234T>C | CA2077727 | CRYGD | c.130A>G (p.Met44Val) n.97+5009T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124234T>G | CA350092713 | CRYGD | c.130A>C (p.Met44Leu) n.97+5009T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124234T= | CA1323928925 | CRYGD | c.130A= (p.Met44=) n.97+5009T= | |
2 | g.208124235C>A | CA350092714 | CRYGD | c.129G>T (p.Trp43Cys) n.97+5010C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124235C= | CA1323928926 | CRYGD | c.129G= (p.Trp43=) n.97+5010C= | |
2 | g.208124235C>G | CA350092715 | CRYGD | c.129G>C (p.Trp43Cys) n.97+5010C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124235C>T | CA350092716 | CRYGD | c.129G>A (p.Trp43Ter) n.97+5010C>T | gnomAD v4 |
2 | g.208124236C>A | CA350092717 | CRYGD | c.128G>T (p.Trp43Leu) n.97+5011C>A | |
2 | g.208124236C= | CA1323928927 | CRYGD | c.128G= (p.Trp43=) n.97+5011C= | |
2 | g.208124236C>G | CA350092718 | CRYGD | c.128G>C (p.Trp43Ser) n.97+5011C>G | |
2 | g.208124236C>T | CA350092719 | CRYGD | c.128G>A (p.Trp43Ter) n.97+5011C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124237A= | CA1323928928 | CRYGD | c.127T= (p.Trp43=) n.97+5012A= | |
2 | g.208124237A>C | CA2077728 | CRYGD | c.127T>G (p.Trp43Gly) n.97+5012A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124237A>G | CA350092720 | CRYGD | c.127T>C (p.Trp43Arg) n.97+5012A>G | gnomAD v4 |
2 | g.208124237A>T | CA350092721 | CRYGD | c.127T>A (p.Trp43Arg) n.97+5012A>T | |
2 | g.208124238G>A | CA430964638 | CRYGD | c.126C>T (p.Cys42=) n.97+5013G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124238G>C | CA350092722 | CRYGD | c.126C>G (p.Cys42Trp) n.97+5013G>C | dbSNP gnomAD v4 |
2 | g.208124238G= | CA1323928929 | CRYGD | c.126C= (p.Cys42=) n.97+5013G= | |
2 | g.208124238G>T | CA350092723 | CRYGD | c.126C>A (p.Cys42Ter) n.97+5013G>T | |
2 | g.208124239C>A | CA350092725 | CRYGD | c.125G>T (p.Cys42Phe) n.97+5014C>A | |
2 | g.208124239C>G | CA350092726 | CRYGD | c.125G>C (p.Cys42Ser) n.97+5014C>G | gnomAD v4 |
2 | g.208124239C>T | CA350092724 | CRYGD | c.125G>A (p.Cys42Tyr) n.97+5014C>T | gnomAD v4 |
2 | g.208124240A>C | CA350092727 | CRYGD | c.124T>G (p.Cys42Gly) n.97+5015A>C | |
2 | g.208124240A>G | CA350092728 | CRYGD | c.124T>C (p.Cys42Arg) n.97+5015A>G | |
2 | g.208124240A>T | CA350092729 | CRYGD | c.124T>A (p.Cys42Ser) n.97+5015A>T | |
2 | g.208124241G>A | CA430964639 | CRYGD | c.123C>T (p.Gly41=) n.97+5016G>A | |
2 | g.208124241G>C | CA430964640 | CRYGD | c.123C>G (p.Gly41=) n.97+5016G>C | gnomAD v4 |
2 | g.208124241G>T | CA430964641 | CRYGD | c.123C>A (p.Gly41=) n.97+5016G>T | |
2 | g.208124242C>A | CA2077729 | CRYGD | c.122G>T (p.Gly41Val) n.97+5017C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124242C= | CA1323928930 | CRYGD | c.122G= (p.Gly41=) n.97+5017C= | |
2 | g.208124242C>G | CA350092730 | CRYGD | c.122G>C (p.Gly41Ala) n.97+5017C>G | |
2 | g.208124242C>T | CA350092731 | CRYGD | c.122G>A (p.Gly41Asp) n.97+5017C>T | gnomAD v4 |
2 | g.208124243C>A | CA350092732 | CRYGD | c.121G>T (p.Gly41Cys) n.97+5018C>A | |
2 | g.208124243C>G | CA350092733 | CRYGD | c.121G>C (p.Gly41Arg) n.97+5018C>G | |
2 | g.208124243C>T | CA350092734 | CRYGD | c.121G>A (p.Gly41Ser) n.97+5018C>T | gnomAD v4 |
2 | g.208124244G>A | CA430964642 | CRYGD | c.120C>T (p.Ser40=) n.97+5019G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124244G>C | CA2077730 | CRYGD | c.120C>G (p.Ser40Arg) n.97+5019G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.208124244G= | CA1323928931 | CRYGD | c.120C= (p.Ser40=) n.97+5019G= | |
2 | g.208124244G>T | CA2077731 | CRYGD | c.120C>A (p.Ser40Arg) n.97+5019G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124245C>A | CA350092736 | CRYGD | c.119G>T (p.Ser40Ile) n.97+5020C>A | gnomAD v4 |
2 | g.208124245C>G | CA350092737 | CRYGD | c.119G>C (p.Ser40Thr) n.97+5020C>G | |
2 | g.208124245C>T | CA350092735 | CRYGD | c.119G>A (p.Ser40Asn) n.97+5020C>T | COSMIC |
2 | g.208124246T>A | CA350092738 | CRYGD | c.118A>T (p.Ser40Cys) n.97+5021T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124246T>C | CA350092739 | CRYGD | c.118A>G (p.Ser40Gly) n.97+5021T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124246T>G | CA350092740 | CRYGD | c.118A>C (p.Ser40Arg) n.97+5021T>G | |
2 | g.208124246T= | CA1323928932 | CRYGD | c.118A= (p.Ser40=) n.97+5021T= | |
2 | g.208124247G>A | CA430964643 | CRYGD | c.117C>T (p.Asp39=) n.97+5022G>A | |
2 | g.208124247G>C | CA350092741 | CRYGD | c.117C>G (p.Asp39Glu) n.97+5022G>C | |
2 | g.208124247G>T | CA350092742 | CRYGD | c.117C>A (p.Asp39Glu) n.97+5022G>T | |
2 | g.208124248T>A | CA350092745 | CRYGD | c.116A>T (p.Asp39Val) n.97+5023T>A | |
2 | g.208124248T>C | CA350092743 | CRYGD | c.116A>G (p.Asp39Gly) n.97+5023T>C | |
2 | g.208124248T>G | CA350092744 | CRYGD | c.116A>C (p.Asp39Ala) n.97+5023T>G | |
2 | g.208124249C>A | CA350092746 | CRYGD | c.115G>T (p.Asp39Tyr) n.97+5024C>A | |
2 | g.208124249C= | CA1323928933 | CRYGD | c.115G= (p.Asp39=) n.97+5024C= | |
2 | g.208124249C>G | CA2077732 | CRYGD | c.115G>C (p.Asp39His) n.97+5024C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124249C>T | CA350092747 | CRYGD | c.115G>A (p.Asp39Asn) n.97+5024C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124250_208124252del | CA2754048738 | CRYGD | c.113_115del (p.Val38del) n.97+5025_97+5027del | |
2 | g.208124250C>A | CA430964644 | CRYGD | c.114G>T (p.Val38=) n.97+5025C>A | |
2 | g.208124250C>G | CA430964645 | CRYGD | c.114G>C (p.Val38=) n.97+5025C>G | |
2 | g.208124250C>T | CA430964646 | CRYGD | c.114G>A (p.Val38=) n.97+5025C>T | |
2 | g.208124251A>C | CA350092748 | CRYGD | c.113T>G (p.Val38Gly) n.97+5026A>C | |
2 | g.208124251A>G | CA350092749 | CRYGD | c.113T>C (p.Val38Ala) n.97+5026A>G | |
2 | g.208124251A>T | CA350092750 | CRYGD | c.113T>A (p.Val38Glu) n.97+5026A>T | |
2 | g.208124252C>A | CA350092752 | CRYGD | c.112G>T (p.Val38Leu) n.97+5027C>A | |
2 | g.208124252C= | CA1323928934 | CRYGD | c.112G= (p.Val38=) n.97+5027C= | |
2 | g.208124252C>G | CA350092753 | CRYGD | c.112G>C (p.Val38Leu) n.97+5027C>G | |
2 | g.208124252C>T | CA350092751 | CRYGD | c.112G>A (p.Val38Met) n.97+5027C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.208124253G>A | CA430964647 | CRYGD | c.111C>T (p.Arg37=) n.97+5028G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124253G>C | CA430964648 | CRYGD | c.111C>G (p.Arg37=) n.97+5028G>C | |
2 | g.208124253G= | CA1323928935 | CRYGD | c.111C= (p.Arg37=) n.97+5028G= | |
2 | g.208124253G>T | CA430964649 | CRYGD | c.111C>A (p.Arg37=) n.97+5028G>T | COSMIC |
2 | g.208124254C>A | CA350092756 | CRYGD | c.110G>T (p.Arg37Leu) n.97+5029C>A | dbSNP gnomAD v4 |
2 | g.208124254C= | CA1323928936 | CRYGD | c.110G= (p.Arg37=) n.97+5029C= | |
2 | g.208124254C>G | CA350092754 | CRYGD | c.110G>C (p.Arg37Pro) n.97+5029C>G | ClinVar |
2 | g.208124254C>T | CA350092755 | CRYGD | c.110G>A (p.Arg37His) n.97+5029C>T | gnomAD v4 |
2 | g.208124255G>A | CA64607815 | CRYGD | c.109C>T (p.Arg37Cys) n.97+5030G>A | dbSNP gnomAD v4 |
2 | g.208124255G>C | CA350092757 | CRYGD | c.109C>G (p.Arg37Gly) n.97+5030G>C | dbSNP |
2 | g.208124255G= | CA1323928937 | CRYGD | c.109C= (p.Arg37=) n.97+5030G= | |
2 | g.208124255G>T | CA214962 | CRYGD | c.109C>A (p.Arg37Ser) n.97+5030G>T | ClinVar dbSNP |
2 | g.208124256C>A | CA430964650 | CRYGD | c.108G>T (p.Ala36=) n.97+5031C>A | dbSNP |
2 | g.208124256C= | CA1323928938 | CRYGD | c.108G= (p.Ala36=) n.97+5031C= | |
2 | g.208124256C>G | CA430964651 | CRYGD | c.108G>C (p.Ala36=) n.97+5031C>G | |
2 | g.208124256C>T | CA2077733 | CRYGD | c.108G>A (p.Ala36=) n.97+5031C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124257G>A | CA2077734 | CRYGD | c.107C>T (p.Ala36Val) n.97+5032G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124257G>C | CA350092758 | CRYGD | c.107C>G (p.Ala36Gly) n.97+5032G>C | |
2 | g.208124257G= | CA1323928939 | CRYGD | c.107C= (p.Ala36=) n.97+5032G= | |
2 | g.208124257G>T | CA350092759 | CRYGD | c.107C>A (p.Ala36Glu) n.97+5032G>T | dbSNP |
2 | g.208124258C>A | CA350092760 | CRYGD | c.106G>T (p.Ala36Ser) n.97+5033C>A | |
2 | g.208124258C>G | CA350092761 | CRYGD | c.106G>C (p.Ala36Pro) n.97+5033C>G | |
2 | g.208124258C>T | CA350092762 | CRYGD | c.106G>A (p.Ala36Thr) n.97+5033C>T | |
2 | g.208124259C>A | CA430964652 | CRYGD | c.105G>T (p.Ser35=) n.97+5034C>A | |
2 | g.208124259C>G | CA430964653 | CRYGD | c.105G>C (p.Ser35=) n.97+5034C>G | |
2 | g.208124259C>T | CA430964654 | CRYGD | c.105G>A (p.Ser35=) n.97+5034C>T | |
2 | g.208124260G>A | CA350092765 | CRYGD | c.104C>T (p.Ser35Leu) n.97+5035G>A | |
2 | g.208124260G>C | CA350092763 | CRYGD | c.104C>G (p.Ser35Trp) n.97+5035G>C | gnomAD v4 |
2 | g.208124260G>T | CA350092764 | CRYGD | c.104C>A (p.Ser35Ter) n.97+5035G>T | |
2 | g.208124261A>C | CA350092766 | CRYGD | c.103T>G (p.Ser35Ala) n.97+5036A>C | |
2 | g.208124261A>G | CA350092767 | CRYGD | c.103T>C (p.Ser35Pro) n.97+5036A>G | |
2 | g.208124261A>T | CA350092768 | CRYGD | c.103T>A (p.Ser35Thr) n.97+5036A>T | |
2 | g.208124262G>A | CA2077735 | CRYGD | c.102C>T (p.Asn34=) n.97+5037G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124262G>C | CA350092769 | CRYGD | c.102C>G (p.Asn34Lys) n.97+5037G>C | |
2 | g.208124262G= | CA1323928940 | CRYGD | c.102C= (p.Asn34=) n.97+5037G= | |
2 | g.208124262G>T | CA350092770 | CRYGD | c.102C>A (p.Asn34Lys) n.97+5037G>T | |
2 | g.208124263T>A | CA350092771 | CRYGD | c.101A>T (p.Asn34Ile) n.97+5038T>A | |
2 | g.208124263T>C | CA350092772 | CRYGD | c.101A>G (p.Asn34Ser) n.97+5038T>C | |
2 | g.208124263T>G | CA350092773 | CRYGD | c.101A>C (p.Asn34Thr) n.97+5038T>G | |
2 | g.208124264T>A | CA350092774 | CRYGD | c.100A>T (p.Asn34Tyr) n.97+5039T>A | |
2 | g.208124264T>C | CA350092775 | CRYGD | c.100A>G (p.Asn34Asp) n.97+5039T>C | |
2 | g.208124264T>G | CA350092776 | CRYGD | c.100A>C (p.Asn34His) n.97+5039T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124264T= | CA1323928941 | CRYGD | c.100A= (p.Asn34=) n.97+5039T= | |
2 | g.208124265G>A | CA2077736 | CRYGD | c.99C>T (p.Cys33=) n.97+5040G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124265G>C | CA350092778 | CRYGD | c.99C>G (p.Cys33Trp) n.97+5040G>C | |
2 | g.208124265G= | CA1323928942 | CRYGD | c.99C= (p.Cys33=) n.97+5040G= | |
2 | g.208124265G>T | CA350092777 | CRYGD | c.99C>A (p.Cys33Ter) n.97+5040G>T | |
2 | g.208124266C>A | CA350092779 | CRYGD | c.98G>T (p.Cys33Phe) n.97+5041C>A | |
2 | g.208124266C>G | CA350092780 | CRYGD | c.98G>C (p.Cys33Ser) n.97+5041C>G | |
2 | g.208124266C>T | CA350092781 | CRYGD | c.98G>A (p.Cys33Tyr) n.97+5041C>T | gnomAD v4 |
2 | g.208124267A>C | CA350092782 | CRYGD | c.97T>G (p.Cys33Gly) n.97+5042A>C | |
2 | g.208124267A>G | CA350092783 | CRYGD | c.97T>C (p.Cys33Arg) n.97+5042A>G | ClinVar dbSNP |
2 | g.208124267A>T | CA350092784 | CRYGD | c.97T>A (p.Cys33Ser) n.97+5042A>T | |
2 | g.208124268G>A | CA430964655 | CRYGD | c.96C>T (p.Arg32=) n.97+5043G>A | |
2 | g.208124268G>C | CA430964656 | CRYGD | c.96C>G (p.Arg32=) n.97+5043G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124268G= | CA1323928943 | CRYGD | c.96C= (p.Arg32=) n.97+5043G= | |
2 | g.208124268G>T | CA430964657 | CRYGD | c.96C>A (p.Arg32=) n.97+5043G>T | |
2 | g.208124269C>A | CA350092787 | CRYGD | c.95G>T (p.Arg32Leu) n.97+5044C>A | |
2 | g.208124269C= | CA1323928944 | CRYGD | c.95G= (p.Arg32=) n.97+5044C= | |
2 | g.208124269C>G | CA350092785 | CRYGD | c.95G>C (p.Arg32Pro) n.97+5044C>G | |
2 | g.208124269C>T | CA350092786 | CRYGD | c.95G>A (p.Arg32His) n.97+5044C>T | dbSNP |
2 | g.208124270G>A | CA350092788 | CRYGD | c.94C>T (p.Arg32Cys) n.97+5045G>A | gnomAD v4 COSMIC |
2 | g.208124270G>C | CA350092789 | CRYGD | c.94C>G (p.Arg32Gly) n.97+5045G>C | |
2 | g.208124270G>T | CA350092790 | CRYGD | c.94C>A (p.Arg32Ser) n.97+5045G>T | |
2 | g.208124271G>A | CA430964658 | CRYGD | c.93C>T (p.Ser31=) n.97+5046G>A | gnomAD v4 |
2 | g.208124271G>C | CA64607834 | CRYGD | c.93C>G (p.Ser31Arg) n.97+5046G>C | dbSNP |
2 | g.208124271G= | CA1323928945 | CRYGD | c.93C= (p.Ser31=) n.97+5046G= | |
2 | g.208124271G>T | CA350092791 | CRYGD | c.93C>A (p.Ser31Arg) n.97+5046G>T | |
2 | g.208124272C>A | CA350092792 | CRYGD | c.92G>T (p.Ser31Ile) n.97+5047C>A | COSMIC |
2 | g.208124272C>G | CA350092794 | CRYGD | c.92G>C (p.Ser31Thr) n.97+5047C>G | |
2 | g.208124272C>T | CA350092793 | CRYGD | c.92G>A (p.Ser31Asn) n.97+5047C>T | |
2 | g.208124273T>A | CA350092795 | CRYGD | c.91A>T (p.Ser31Cys) n.97+5048T>A | |
2 | g.208124273T>C | CA350092796 | CRYGD | c.91A>G (p.Ser31Gly) n.97+5048T>C | |
2 | g.208124273T>G | CA350092797 | CRYGD | c.91A>C (p.Ser31Arg) n.97+5048T>G | |
2 | g.208124274C>A | CA350092798 | CRYGD | c.90G>T (p.Leu30Phe) n.97+5049C>A | |
2 | g.208124274C= | CA1323928946 | CRYGD | c.90G= (p.Leu30=) n.97+5049C= | |
2 | g.208124274C>G | CA350092799 | CRYGD | c.90G>C (p.Leu30Phe) n.97+5049C>G | |
2 | g.208124274C>T | CA430964659 | CRYGD | c.90G>A (p.Leu30=) n.97+5049C>T | dbSNP |
2 | g.208124275A>C | CA350092800 | CRYGD | c.89T>G (p.Leu30Trp) n.97+5050A>C | |
2 | g.208124275A>G | CA350092801 | CRYGD | c.89T>C (p.Leu30Ser) n.97+5050A>G | |
2 | g.208124275A>T | CA350092802 | CRYGD | c.89T>A (p.Leu30Ter) n.97+5050A>T | |
2 | g.208124276A>C | CA350092803 | CRYGD | c.88T>G (p.Leu30Val) n.97+5051A>C | |
2 | g.208124276A>G | CA430964660 | CRYGD | c.88T>C (p.Leu30=) n.97+5051A>G | gnomAD v4 |
2 | g.208124276A>T | CA350092804 | CRYGD | c.88T>A (p.Leu30Met) n.97+5051A>T | |
2 | g.208124277G>A | CA430964661 | CRYGD | c.87C>T (p.Tyr29=) n.97+5052G>A | gnomAD v4 |
2 | g.208124277G>C | CA350092805 | CRYGD | c.87C>G (p.Tyr29Ter) n.97+5052G>C | |
2 | g.208124277G>T | CA350092806 | CRYGD | c.87C>A (p.Tyr29Ter) n.97+5052G>T | |
2 | g.208124278_208124294del | CA2662867811 | CRYGD | c.71_87del (p.Pro24LeufsTer18) n.97+5053_97+5069del | gnomAD v4 |
2 | g.208124278T>A | CA350092809 | CRYGD | c.86A>T (p.Tyr29Phe) n.97+5053T>A | dbSNP gnomAD v2 |
2 | g.208124278T>C | CA350092808 | CRYGD | c.86A>G (p.Tyr29Cys) n.97+5053T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124278T>G | CA350092807 | CRYGD | c.86A>C (p.Tyr29Ser) n.97+5053T>G | |
2 | g.208124278T= | CA1323928947 | CRYGD | c.86A= (p.Tyr29=) n.97+5053T= | |
2 | g.208124279A>C | CA350092810 | CRYGD | c.85T>G (p.Tyr29Asp) n.97+5054A>C | |
2 | g.208124279A>G | CA350092812 | CRYGD | c.85T>C (p.Tyr29His) n.97+5054A>G | gnomAD v4 |
2 | g.208124279A>T | CA350092811 | CRYGD | c.85T>A (p.Tyr29Asn) n.97+5054A>T | |
2 | g.208124280G>A | CA430964662 | CRYGD | c.84C>T (p.Pro28=) n.97+5055G>A | gnomAD v4 |
2 | g.208124280G>C | CA430964663 | CRYGD | c.84C>G (p.Pro28=) n.97+5055G>C | |
2 | g.208124280G>T | CA430964664 | CRYGD | c.84C>A (p.Pro28=) n.97+5055G>T | |
2 | g.208124281G>A | CA350092813 | CRYGD | c.83C>T (p.Pro28Leu) n.97+5056G>A | dbSNP gnomAD v4 |
2 | g.208124281G>C | CA350092815 | CRYGD | c.83C>G (p.Pro28Arg) n.97+5056G>C | |
2 | g.208124281G= | CA1323928948 | CRYGD | c.83C= (p.Pro28=) n.97+5056G= | |
2 | g.208124281G>T | CA350092814 | CRYGD | c.83C>A (p.Pro28His) n.97+5056G>T | |
2 | g.208124282G>A | CA350092816 | CRYGD | c.82C>T (p.Pro28Ser) n.97+5057G>A | COSMIC |
2 | g.208124282G>C | CA350092817 | CRYGD | c.82C>G (p.Pro28Ala) n.97+5057G>C | |
2 | g.208124282G= | CA1323928949 | CRYGD | c.82C= (p.Pro28=) n.97+5057G= | |
2 | g.208124282G>T | CA350092818 | CRYGD | c.82C>A (p.Pro28Thr) n.97+5057G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.208124283C>A | CA350092819 | CRYGD | c.81G>T (p.Gln27His) n.97+5058C>A | |
2 | g.208124283C= | CA1323928950 | CRYGD | c.81G= (p.Gln27=) n.97+5058C= | |
2 | g.208124283C>G | CA350092820 | CRYGD | c.81G>C (p.Gln27His) n.97+5058C>G | |
2 | g.208124283C>T | CA2077737 | CRYGD | c.81G>A (p.Gln27=) n.97+5058C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124284T>A | CA350092824 | CRYGD | c.80A>T (p.Gln27Leu) n.97+5059T>A | |
2 | g.208124284T>C | CA350092826 | CRYGD | c.80A>G (p.Gln27Arg) n.97+5059T>C | |
2 | g.208124284T>G | CA350092827 | CRYGD | c.80A>C (p.Gln27Pro) n.97+5059T>G | |
2 | g.208124285G>A | CA350092830 | CRYGD | c.79C>T (p.Gln27Ter) n.97+5060G>A | |
2 | g.208124285G>C | CA350092832 | CRYGD | c.79C>G (p.Gln27Glu) n.97+5060G>C | |
2 | g.208124285G>T | CA350092834 | CRYGD | c.79C>A (p.Gln27Lys) n.97+5060G>T | gnomAD v4 |
2 | g.208124286C>A | CA430964665 | CRYGD | c.78G>T (p.Leu26=) n.97+5061C>A | gnomAD v4 |
2 | g.208124286C>G | CA430964666 | CRYGD | c.78G>C (p.Leu26=) n.97+5061C>G | |
2 | g.208124286C>T | CA430964667 | CRYGD | c.78G>A (p.Leu26=) n.97+5061C>T | |
2 | g.208124287A= | CA1323928951 | CRYGD | c.77T= (p.Leu26=) n.97+5062A= | |
2 | g.208124287A>C | CA350092843 | CRYGD | c.77T>G (p.Leu26Arg) n.97+5062A>C | |
2 | g.208124287A>G | CA350092838 | CRYGD | c.77T>C (p.Leu26Pro) n.97+5062A>G | |
2 | g.208124287A>T | CA350092840 | CRYGD | c.77T>A (p.Leu26Gln) n.97+5062A>T | |
2 | g.208124288G>A | CA430964668 | CRYGD | c.76C>T (p.Leu26=) n.97+5063G>A | |
2 | g.208124288G>C | CA350092845 | CRYGD | c.76C>G (p.Leu26Val) n.97+5063G>C | |
2 | g.208124288G>T | CA350092848 | CRYGD | c.76C>A (p.Leu26Met) n.97+5063G>T | |
2 | g.208124288_208124289insACCG | CA539389074 | CRYGD | c.76_77insGGTC (p.Leu26ArgfsTer23) n.97+5063_97+5064insACCG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124289G>A | CA64607838 | CRYGD | c.75C>T (p.Asn25=) n.97+5064G>A | dbSNP gnomAD v4 |
2 | g.208124289G>C | CA350092850 | CRYGD | c.75C>G (p.Asn25Lys) n.97+5064G>C | |
2 | g.208124289G= | CA1323928952 | CRYGD | c.75C= (p.Asn25=) n.97+5064G= | |
2 | g.208124289G>T | CA350092853 | CRYGD | c.75C>A (p.Asn25Lys) n.97+5064G>T | |
2 | g.208124290T>A | CA350092856 | CRYGD | c.74A>T (p.Asn25Ile) n.97+5065T>A | gnomAD v4 |
2 | g.208124290T>C | CA350092857 | CRYGD | c.74A>G (p.Asn25Ser) n.97+5065T>C | dbSNP gnomAD v4 |
2 | g.208124290T>G | CA350092859 | CRYGD | c.74A>C (p.Asn25Thr) n.97+5065T>G | |
2 | g.208124290T= | CA1323928953 | CRYGD | c.74A= (p.Asn25=) n.97+5065T= | |
2 | g.208124290_208124294delinsTTGGG | CA1323928954 | CRYGD | c.70_74delinsCCCAA (p.Pro24=) n.97+5065_97+5069delinsTTGGG | |
2 | g.208124291T>A | CA350092862 | CRYGD | c.73A>T (p.Asn25Tyr) n.97+5066T>A | |
2 | g.208124291T>C | CA350092864 | CRYGD | c.73A>G (p.Asn25Asp) n.97+5066T>C | dbSNP gnomAD v4 |
2 | g.208124291T>G | CA350092866 | CRYGD | c.73A>C (p.Asn25His) n.97+5066T>G | |
2 | g.208124291T= | CA1323928955 | CRYGD | c.73A= (p.Asn25=) n.97+5066T= | |
2 | g.208124291_208124294del | CA539074509 | CRYGD | c.70_73del (p.Pro24ThrfsTer6) n.97+5066_97+5069del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124292G>A | CA430964669 | CRYGD | c.72C>T (p.Pro24=) n.97+5067G>A | |
2 | g.208124292G>C | CA430964670 | CRYGD | c.72C>G (p.Pro24=) n.97+5067G>C | |
2 | g.208124292G>T | CA430964671 | CRYGD | c.72C>A (p.Pro24=) n.97+5067G>T | |
2 | g.208124295dup | CA2662867812 | CRYGD | c.72dup (p.Asn25GlnfsTer23) n.97+5070dup | gnomAD v4 |
2 | g.208124293G>A | CA350092874 | CRYGD | c.71C>T (p.Pro24Leu) n.97+5068G>A | |
2 | g.208124293G>C | CA350092872 | CRYGD | c.71C>G (p.Pro24Arg) n.97+5068G>C | gnomAD v4 |
2 | g.208124293G>T | CA350092870 | CRYGD | c.71C>A (p.Pro24His) n.97+5068G>T | gnomAD v4 |
2 | g.208124294G>A | CA214966 | CRYGD | c.70C>T (p.Pro24Ser) n.97+5069G>A | ClinVar dbSNP |
2 | g.208124294G>C | CA350092877 | CRYGD | c.70C>G (p.Pro24Ala) n.97+5069G>C | |
2 | g.208124294G= | CA1323928956 | CRYGD | c.70C= (p.Pro24=) n.97+5069G= | |
2 | g.208124294G>T | CA214963 | CRYGD | c.70C>A (p.Pro24Thr) n.97+5069G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.208124294_208124296delinsGGT | CA1323928957 | CRYGD | c.68_70delinsACC (p.His23=) n.97+5069_97+5071delinsGGT | |
2 | g.208124295G>A | CA2077739 | CRYGD | c.69C>T (p.His23=) n.97+5070G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124295G>C | CA350092884 | CRYGD | c.69C>G (p.His23Gln) n.97+5070G>C | |
2 | g.208124295G= | CA1323928958 | CRYGD | c.69C= (p.His23=) n.97+5070G= | |
2 | g.208124295G>T | CA350092885 | CRYGD | c.69C>A (p.His23Gln) n.97+5070G>T | |
2 | g.208124296_208124297del | CA2077738 | CRYGD | c.68_69del (p.His23ProfsTer24) n.97+5071_97+5072del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124296T>A | CA350092889 | CRYGD | c.68A>T (p.His23Leu) n.97+5071T>A | |
2 | g.208124296T>C | CA350092892 | CRYGD | c.68A>G (p.His23Arg) n.97+5071T>C | |
2 | g.208124296T>G | CA350092894 | CRYGD | c.68A>C (p.His23Pro) n.97+5071T>G | gnomAD v4 |
2 | g.208124297G>A | CA350092897 | CRYGD | c.67C>T (p.His23Tyr) n.97+5072G>A | gnomAD v4 |
2 | g.208124297G>C | CA350092898 | CRYGD | c.67C>G (p.His23Asp) n.97+5072G>C | |
2 | g.208124297G>T | CA350092900 | CRYGD | c.67C>A (p.His23Asn) n.97+5072G>T | |
2 | g.208124298G>A | CA430964672 | CRYGD | c.66C>T (p.Asp22=) n.97+5073G>A | |
2 | g.208124298G>C | CA350092903 | CRYGD | c.66C>G (p.Asp22Glu) n.97+5073G>C | |
2 | g.208124298G>T | CA350092905 | CRYGD | c.66C>A (p.Asp22Glu) n.97+5073G>T | |
2 | g.208124299T>A | CA350092907 | CRYGD | c.65A>T (p.Asp22Val) n.97+5074T>A | |
2 | g.208124299T>C | CA350092909 | CRYGD | c.65A>G (p.Asp22Gly) n.97+5074T>C | |
2 | g.208124299T>G | CA350092911 | CRYGD | c.65A>C (p.Asp22Ala) n.97+5074T>G | |
2 | g.208124300C>A | CA350092914 | CRYGD | c.64G>T (p.Asp22Tyr) n.97+5075C>A | gnomAD v4 |
2 | g.208124300C= | CA1323928959 | CRYGD | c.64G= (p.Asp22=) n.97+5075C= | |
2 | g.208124300C>G | CA2077740 | CRYGD | c.64G>C (p.Asp22His) n.97+5075C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124300C>T | CA350092918 | CRYGD | c.64G>A (p.Asp22Asn) n.97+5075C>T | gnomAD v4 |
2 | g.208124301G>A | CA2077741 | CRYGD | c.63C>T (p.Ser21=) n.97+5076G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124301G>C | CA64607860 | CRYGD | c.63C>G (p.Ser21Arg) n.97+5076G>C | dbSNP |
2 | g.208124301G= | CA1323928960 | CRYGD | c.63C= (p.Ser21=) n.97+5076G= | |
2 | g.208124301G>T | CA350092924 | CRYGD | c.63C>A (p.Ser21Arg) n.97+5076G>T | |
2 | g.208124302C>A | CA350092927 | CRYGD | c.62G>T (p.Ser21Ile) n.97+5077C>A | gnomAD v4 |
2 | g.208124302C= | CA1323928961 | CRYGD | c.62G= (p.Ser21=) n.97+5077C= | |
2 | g.208124302C>G | CA350092929 | CRYGD | c.62G>C (p.Ser21Thr) n.97+5077C>G | |
2 | g.208124302C>T | CA350092931 | CRYGD | c.62G>A (p.Ser21Asn) n.97+5077C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124303T>A | CA350092938 | CRYGD | c.61A>T (p.Ser21Cys) n.97+5078T>A | |
2 | g.208124303T>C | CA350092936 | CRYGD | c.61A>G (p.Ser21Gly) n.97+5078T>C | gnomAD v4 |
2 | g.208124303T>G | CA350092934 | CRYGD | c.61A>C (p.Ser21Arg) n.97+5078T>G | |
2 | g.208124304G>A | CA430964673 | CRYGD | c.60C>T (p.Ser20=) n.97+5079G>A | |
2 | g.208124304G>C | CA350092942 | CRYGD | c.60C>G (p.Ser20Arg) n.97+5079G>C | gnomAD v4 |
2 | g.208124304G>T | CA350092940 | CRYGD | c.60C>A (p.Ser20Arg) n.97+5079G>T | |
2 | g.208124305C>A | CA350092950 | CRYGD | c.59G>T (p.Ser20Ile) n.97+5080C>A | |
2 | g.208124305C= | CA1323928962 | CRYGD | c.59G= (p.Ser20=) n.97+5080C= | |
2 | g.208124305C>G | CA350092946 | CRYGD | c.59G>C (p.Ser20Thr) n.97+5080C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124305C>T | CA350092947 | CRYGD | c.59G>A (p.Ser20Asn) n.97+5080C>T | |
2 | g.208124306T>A | CA350092952 | CRYGD | c.58A>T (p.Ser20Cys) n.97+5081T>A | |
2 | g.208124306T>C | CA350092955 | CRYGD | c.58A>G (p.Ser20Gly) n.97+5081T>C | |
2 | g.208124306T>G | CA350092957 | CRYGD | c.58A>C (p.Ser20Arg) n.97+5081T>G | |
2 | g.208124307G>A | CA430964674 | CRYGD | c.57C>T (p.Cys19=) n.97+5082G>A | gnomAD v4 |
2 | g.208124307G>C | CA350092960 | CRYGD | c.57C>G (p.Cys19Trp) n.97+5082G>C | |
2 | g.208124307G>T | CA350092962 | CRYGD | c.57C>A (p.Cys19Ter) n.97+5082G>T | gnomAD v4 |
2 | g.208124308C>A | CA350092963 | CRYGD | c.56G>T (p.Cys19Phe) n.97+5083C>A | gnomAD v4 |
2 | g.208124308C>G | CA350092965 | CRYGD | c.56G>C (p.Cys19Ser) n.97+5083C>G | |
2 | g.208124308C>T | CA350092968 | CRYGD | c.56G>A (p.Cys19Tyr) n.97+5083C>T | gnomAD v4 |
2 | g.208124309A>C | CA350092971 | CRYGD | c.55T>G (p.Cys19Gly) n.97+5084A>C | |
2 | g.208124309A>G | CA350092973 | CRYGD | c.55T>C (p.Cys19Arg) n.97+5084A>G | |
2 | g.208124309A>T | CA350092975 | CRYGD | c.55T>A (p.Cys19Ser) n.97+5084A>T | |
2 | g.208124310T>A | CA350092980 | CRYGD | c.54A>T (p.Glu18Asp) n.97+5085T>A | |
2 | g.208124310T>C | CA64607865 | CRYGD | c.54A>G (p.Glu18=) n.97+5085T>C | dbSNP |
2 | g.208124310T>G | CA350092978 | CRYGD | c.54A>C (p.Glu18Asp) n.97+5085T>G | |
2 | g.208124310T= | CA1323928963 | CRYGD | c.54A= (p.Glu18=) n.97+5085T= | |
2 | g.208124311T>A | CA350092984 | CRYGD | c.53A>T (p.Glu18Val) n.97+5086T>A | |
2 | g.208124311T>C | CA350092986 | CRYGD | c.53A>G (p.Glu18Gly) n.97+5086T>C | gnomAD v4 |
2 | g.208124311T>G | CA350092988 | CRYGD | c.53A>C (p.Glu18Ala) n.97+5086T>G | |
2 | g.208124312C>A | CA350092991 | CRYGD | c.52G>T (p.Glu18Ter) n.97+5087C>A | |
2 | g.208124312C>G | CA350092993 | CRYGD | c.52G>C (p.Glu18Gln) n.97+5087C>G | |
2 | g.208124312C>T | CA350092996 | CRYGD | c.52G>A (p.Glu18Lys) n.97+5087C>T | |
2 | g.208124313A= | CA1323928964 | CRYGD | c.51T= (p.Tyr17=) n.97+5088A= | |
2 | g.208124313A>C | CA350092999 | CRYGD | c.51T>G (p.Tyr17Ter) n.97+5088A>C | ClinVar dbSNP gnomAD v4 |
2 | g.208124313A>G | CA2077742 | CRYGD | c.51T>C (p.Tyr17=) n.97+5088A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124313A>T | CA350093003 | CRYGD | c.51T>A (p.Tyr17Ter) n.97+5088A>T | dbSNP gnomAD v4 |
2 | g.208124314T>A | CA350093005 | CRYGD | c.50A>T (p.Tyr17Phe) n.97+5089T>A | |
2 | g.208124314T>C | CA350093008 | CRYGD | c.50A>G (p.Tyr17Cys) n.97+5089T>C | gnomAD v4 |
2 | g.208124314T>G | CA350093009 | CRYGD | c.50A>C (p.Tyr17Ser) n.97+5089T>G |