Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208121787_208121798delinsGGACAGCTCGTA | CA1323927740 | CRYGD | c.400_411delinsTACGAGCTGTCC (p.Tyr134=) n.97+2562_97+2573delinsGGACAGCTCGTA | |
2 | g.208121790_208121800del | CA658796150 | CRYGD | c.400_410del (p.Tyr134GlnfsTer15) n.97+2565_97+2575del | ClinVar dbSNP |
2 | g.208121796G>A | CA2077640 | CRYGD | c.402C>T (p.Tyr134=) n.97+2571G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208121796G>C | CA350091687 | CRYGD | c.402C>G (p.Tyr134Ter) n.97+2571G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208121796G= | CA1323927744 | CRYGD | c.402C= (p.Tyr134=) n.97+2571G= | |
2 | g.208121796G>T | CA215000 | CRYGD | c.402C>A (p.Tyr134Ter) n.97+2571G>T | ClinVar dbSNP COSMIC |
2 | g.208121797T>A | CA350091688 | CRYGD | c.401A>T (p.Tyr134Phe) n.97+2572T>A | gnomAD v4 COSMIC |
2 | g.208121797T>C | CA2077641 | CRYGD | c.401A>G (p.Tyr134Cys) n.97+2572T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121797T>G | CA350091689 | CRYGD | c.401A>C (p.Tyr134Ser) n.97+2572T>G | |
2 | g.208121797T= | CA1323927745 | CRYGD | c.401A= (p.Tyr134=) n.97+2572T= | |
2 | g.208121798A>C | CA350091692 | CRYGD | c.400T>G (p.Tyr134Asp) n.97+2573A>C | gnomAD v4 |
2 | g.208121798A>G | CA350091691 | CRYGD | c.400T>C (p.Tyr134His) n.97+2573A>G | |
2 | g.208121798A>T | CA350091690 | CRYGD | c.400T>A (p.Tyr134Asn) n.97+2573A>T | gnomAD v4 |
2 | g.208121799G>A | CA430964471 | CRYGD | c.399C>T (p.Leu133=) n.97+2574G>A | |
2 | g.208121799G>C | CA430964472 | CRYGD | c.399C>G (p.Leu133=) n.97+2574G>C | |
2 | g.208121799G>T | CA430964473 | CRYGD | c.399C>A (p.Leu133=) n.97+2574G>T | |
2 | g.208121800A>C | CA350091693 | CRYGD | c.398T>G (p.Leu133Arg) n.97+2575A>C | |
2 | g.208121800A>G | CA350091694 | CRYGD | c.398T>C (p.Leu133Pro) n.97+2575A>G | gnomAD v4 |
2 | g.208121800A>T | CA350091695 | CRYGD | c.398T>A (p.Leu133His) n.97+2575A>T | |
2 | g.208121801G>A | CA350091696 | CRYGD | c.397C>T (p.Leu133Phe) n.97+2576G>A | gnomAD v4 |
2 | g.208121801G>C | CA350091697 | CRYGD | c.397C>G (p.Leu133Val) n.97+2576G>C | |
2 | g.208121801G>T | CA350091698 | CRYGD | c.397C>A (p.Leu133Ile) n.97+2576G>T | |
2 | g.208121802G>A | CA430964475 | CRYGD | c.396C>T (p.Val132=) n.97+2577G>A | |
2 | g.208121802G>C | CA430964477 | CRYGD | c.396C>G (p.Val132=) n.97+2577G>C | |
2 | g.208121802G>T | CA430964476 | CRYGD | c.396C>A (p.Val132=) n.97+2577G>T | |
2 | g.208121803A= | CA1323927746 | CRYGD | c.395T= (p.Val132=) n.97+2578A= | |
2 | g.208121803A>C | CA350091699 | CRYGD | c.395T>G (p.Val132Gly) n.97+2578A>C | |
2 | g.208121803A>G | CA350091700 | CRYGD | c.395T>C (p.Val132Ala) n.97+2578A>G | dbSNP |
2 | g.208121803A>T | CA350091701 | CRYGD | c.395T>A (p.Val132Asp) n.97+2578A>T | |
2 | g.208121804C>A | CA350091702 | CRYGD | c.394G>T (p.Val132Phe) n.97+2579C>A | |
2 | g.208121804C>G | CA350091703 | CRYGD | c.394G>C (p.Val132Leu) n.97+2579C>G | gnomAD v4 |
2 | g.208121804C>T | CA350091704 | CRYGD | c.394G>A (p.Val132Ile) n.97+2579C>T | gnomAD v4 |
2 | g.208121805C>A | CA350091707 | CRYGD | c.393G>T (p.Trp131Cys) n.97+2580C>A | |
2 | g.208121805C= | CA1323927747 | CRYGD | c.393G= (p.Trp131=) n.97+2580C= | |
2 | g.208121805C>G | CA350091706 | CRYGD | c.393G>C (p.Trp131Cys) n.97+2580C>G | dbSNP |
2 | g.208121805C>T | CA350091705 | CRYGD | c.393G>A (p.Trp131Ter) n.97+2580C>T | gnomAD v4 |
2 | g.208121806C>A | CA350091708 | CRYGD | c.392G>T (p.Trp131Leu) n.97+2581C>A | |
2 | g.208121806C>G | CA350091709 | CRYGD | c.392G>C (p.Trp131Ser) n.97+2581C>G | |
2 | g.208121806C>T | CA350091710 | CRYGD | c.392G>A (p.Trp131Ter) n.97+2581C>T | |
2 | g.208121807A>C | CA350091711 | CRYGD | c.391T>G (p.Trp131Gly) n.97+2582A>C | |
2 | g.208121807A>G | CA350091712 | CRYGD | c.391T>C (p.Trp131Arg) n.97+2582A>G | gnomAD v4 |
2 | g.208121807A>T | CA350091713 | CRYGD | c.391T>A (p.Trp131Arg) n.97+2582A>T | |
2 | g.208121808G>A | CA2077642 | CRYGD | c.390C>T (p.Ser130=) n.97+2583G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121808G>C | CA430964478 | CRYGD | c.390C>G (p.Ser130=) n.97+2583G>C | gnomAD v4 |
2 | g.208121808G= | CA1323927748 | CRYGD | c.390C= (p.Ser130=) n.97+2583G= | |
2 | g.208121808G>T | CA430964479 | CRYGD | c.390C>A (p.Ser130=) n.97+2583G>T | |
2 | g.208121809G>A | CA350091714 | CRYGD | c.389C>T (p.Ser130Phe) n.97+2584G>A | |
2 | g.208121809G>C | CA350091715 | CRYGD | c.389C>G (p.Ser130Cys) n.97+2584G>C | |
2 | g.208121809G= | CA1323927749 | CRYGD | c.389C= (p.Ser130=) n.97+2584G= | |
2 | g.208121809G>T | CA64606080 | CRYGD | c.389C>A (p.Ser130Tyr) n.97+2584G>T | dbSNP |
2 | g.208121810A>C | CA350091716 | CRYGD | c.388T>G (p.Ser130Ala) n.97+2585A>C | |
2 | g.208121810A>G | CA350091717 | CRYGD | c.388T>C (p.Ser130Pro) n.97+2585A>G | |
2 | g.208121810A>T | CA350091718 | CRYGD | c.388T>A (p.Ser130Thr) n.97+2585A>T | |
2 | g.208121811G>A | CA430964480 | CRYGD | c.387C>T (p.Gly129=) n.97+2586G>A | |
2 | g.208121811G>C | CA430964481 | CRYGD | c.387C>G (p.Gly129=) n.97+2586G>C | |
2 | g.208121811G>T | CA430964482 | CRYGD | c.387C>A (p.Gly129=) n.97+2586G>T | |
2 | g.208121812C>A | CA350091721 | CRYGD | c.386G>T (p.Gly129Val) n.97+2587C>A | |
2 | g.208121812C>G | CA350091719 | CRYGD | c.386G>C (p.Gly129Ala) n.97+2587C>G | |
2 | g.208121812C>T | CA350091720 | CRYGD | c.386G>A (p.Gly129Asp) n.97+2587C>T | ClinVar dbSNP |
2 | g.208121813C>A | CA350091722 | CRYGD | c.385G>T (p.Gly129Cys) n.97+2588C>A | COSMIC |
2 | g.208121813C>G | CA350091723 | CRYGD | c.385G>C (p.Gly129Arg) n.97+2588C>G | |
2 | g.208121813C>T | CA350091724 | CRYGD | c.385G>A (p.Gly129Ser) n.97+2588C>T | |
2 | g.208121814C>A | CA350091725 | CRYGD | c.384G>T (p.Glu128Asp) n.97+2589C>A | |
2 | g.208121814C>G | CA350091726 | CRYGD | c.384G>C (p.Glu128Asp) n.97+2589C>G | |
2 | g.208121814C>T | CA430964483 | CRYGD | c.384G>A (p.Glu128=) n.97+2589C>T | |
2 | g.208121815T>A | CA350091727 | CRYGD | c.383A>T (p.Glu128Val) n.97+2590T>A | |
2 | g.208121815T>C | CA350091728 | CRYGD | c.383A>G (p.Glu128Gly) n.97+2590T>C | |
2 | g.208121815T>G | CA350091729 | CRYGD | c.383A>C (p.Glu128Ala) n.97+2590T>G | |
2 | g.208121816C>A | CA350091730 | CRYGD | c.382G>T (p.Glu128Ter) n.97+2591C>A | |
2 | g.208121816C>G | CA350091731 | CRYGD | c.382G>C (p.Glu128Gln) n.97+2591C>G | |
2 | g.208121816C>T | CA350091732 | CRYGD | c.382G>A (p.Glu128Lys) n.97+2591C>T | |
2 | g.208121817C>A | CA430964484 | CRYGD | c.381G>T (p.Leu127=) n.97+2592C>A | |
2 | g.208121817C= | CA1323927750 | CRYGD | c.381G= (p.Leu127=) n.97+2592C= | |
2 | g.208121817C>G | CA430964485 | CRYGD | c.381G>C (p.Leu127=) n.97+2592C>G | |
2 | g.208121817C>T | CA430964487 | CRYGD | c.381G>A (p.Leu127=) n.97+2592C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208121818A>C | CA350091735 | CRYGD | c.380T>G (p.Leu127Arg) n.97+2593A>C | |
2 | g.208121818A>G | CA350091734 | CRYGD | c.380T>C (p.Leu127Pro) n.97+2593A>G | |
2 | g.208121818A>T | CA350091733 | CRYGD | c.380T>A (p.Leu127Gln) n.97+2593A>T | |
2 | g.208121819G>A | CA430964489 | CRYGD | c.379C>T (p.Leu127=) n.97+2594G>A | |
2 | g.208121819G>C | CA350091736 | CRYGD | c.379C>G (p.Leu127Val) n.97+2594G>C | |
2 | g.208121819G>T | CA350091737 | CRYGD | c.379C>A (p.Leu127Met) n.97+2594G>T | gnomAD v4 |
2 | g.208121820C>A | CA430964491 | CRYGD | c.378G>T (p.Val126=) n.97+2595C>A | |
2 | g.208121820C= | CA1323927751 | CRYGD | c.378G= (p.Val126=) n.97+2595C= | |
2 | g.208121820C>G | CA430964490 | CRYGD | c.378G>C (p.Val126=) n.97+2595C>G | |
2 | g.208121820C>T | CA64606081 | CRYGD | c.378G>A (p.Val126=) n.97+2595C>T | dbSNP gnomAD v4 |
2 | g.208121821A>C | CA350091738 | CRYGD | c.377T>G (p.Val126Gly) n.97+2596A>C | |
2 | g.208121821A>G | CA350091739 | CRYGD | c.377T>C (p.Val126Ala) n.97+2596A>G | |
2 | g.208121821A>T | CA350091740 | CRYGD | c.377T>A (p.Val126Glu) n.97+2596A>T | |
2 | g.208121822C>A | CA350091741 | CRYGD | c.376G>T (p.Val126Leu) n.97+2597C>A | |
2 | g.208121822C= | CA1323927752 | CRYGD | c.376G= (p.Val126=) n.97+2597C= | |
2 | g.208121822C>G | CA350091742 | CRYGD | c.376G>C (p.Val126Leu) n.97+2597C>G | |
2 | g.208121822C>T | CA2077643 | CRYGD | c.376G>A (p.Val126Met) n.97+2597C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121823G>A | CA430964493 | CRYGD | c.375C>T (p.Asn125=) n.97+2598G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.208121823G>C | CA350091743 | CRYGD | c.375C>G (p.Asn125Lys) n.97+2598G>C | |
2 | g.208121823G= | CA1323927753 | CRYGD | c.375C= (p.Asn125=) n.97+2598G= | |
2 | g.208121823G>T | CA2077644 | CRYGD | c.375C>A (p.Asn125Lys) n.97+2598G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208121824T>A | CA350091744 | CRYGD | c.374A>T (p.Asn125Ile) n.97+2599T>A | |
2 | g.208121824T>C | CA350091745 | CRYGD | c.374A>G (p.Asn125Ser) n.97+2599T>C | |
2 | g.208121824T>G | CA350091746 | CRYGD | c.374A>C (p.Asn125Thr) n.97+2599T>G | |
2 | g.208121825T>A | CA350091749 | CRYGD | c.373A>T (p.Asn125Tyr) n.97+2600T>A | |
2 | g.208121825T>C | CA350091748 | CRYGD | c.373A>G (p.Asn125Asp) n.97+2600T>C | |
2 | g.208121825T>G | CA350091747 | CRYGD | c.373A>C (p.Asn125His) n.97+2600T>G | |
2 | g.208121826G>A | CA430964494 | CRYGD | c.372C>T (p.Leu124=) n.97+2601G>A | |
2 | g.208121826G>C | CA430964496 | CRYGD | c.372C>G (p.Leu124=) n.97+2601G>C | |
2 | g.208121826G>T | CA430964495 | CRYGD | c.372C>A (p.Leu124=) n.97+2601G>T | |
2 | g.208121827A>C | CA350091750 | CRYGD | c.371T>G (p.Leu124Arg) n.97+2602A>C | |
2 | g.208121827A>G | CA350091751 | CRYGD | c.371T>C (p.Leu124Pro) n.97+2602A>G | |
2 | g.208121827A>T | CA350091752 | CRYGD | c.371T>A (p.Leu124His) n.97+2602A>T | |
2 | g.208121828G>A | CA350091753 | CRYGD | c.370C>T (p.Leu124Phe) n.97+2603G>A | gnomAD v4 |
2 | g.208121828G>C | CA350091754 | CRYGD | c.370C>G (p.Leu124Val) n.97+2603G>C | |
2 | g.208121828G>T | CA350091755 | CRYGD | c.370C>A (p.Leu124Ile) n.97+2603G>T | |
2 | g.208121829G>A | CA430964497 | CRYGD | c.369C>T (p.Ser123=) n.97+2604G>A | |
2 | g.208121829G>C | CA430964498 | CRYGD | c.369C>G (p.Ser123=) n.97+2604G>C | |
2 | g.208121829G>T | CA430964499 | CRYGD | c.369C>A (p.Ser123=) n.97+2604G>T | |
2 | g.208121830G>A | CA350091756 | CRYGD | c.368C>T (p.Ser123Phe) n.97+2605G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208121830G>C | CA350091757 | CRYGD | c.368C>G (p.Ser123Cys) n.97+2605G>C | |
2 | g.208121830G= | CA1323927754 | CRYGD | c.368C= (p.Ser123=) n.97+2605G= | |
2 | g.208121830G>T | CA350091758 | CRYGD | c.368C>A (p.Ser123Tyr) n.97+2605G>T | dbSNP |
2 | g.208121831A= | CA1323927755 | CRYGD | c.367T= (p.Ser123=) n.97+2606A= | |
2 | g.208121831A>C | CA350091759 | CRYGD | c.367T>G (p.Ser123Ala) n.97+2606A>C | |
2 | g.208121831A>G | CA2077645 | CRYGD | c.367T>C (p.Ser123Pro) n.97+2606A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121831A>T | CA350091760 | CRYGD | c.367T>A (p.Ser123Thr) n.97+2606A>T | |
2 | g.208121832G>A | CA2077646 | CRYGD | c.366C>T (p.His122=) n.97+2607G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121832G>C | CA350091762 | CRYGD | c.366C>G (p.His122Gln) n.97+2607G>C | |
2 | g.208121832G= | CA1323927756 | CRYGD | c.366C= (p.His122=) n.97+2607G= | |
2 | g.208121832G>T | CA350091761 | CRYGD | c.366C>A (p.His122Gln) n.97+2607G>T | |
2 | g.208121833T>A | CA350091763 | CRYGD | c.365A>T (p.His122Leu) n.97+2608T>A | |
2 | g.208121833T>C | CA350091764 | CRYGD | c.365A>G (p.His122Arg) n.97+2608T>C | |
2 | g.208121833T>G | CA350091765 | CRYGD | c.365A>C (p.His122Pro) n.97+2608T>G | gnomAD v4 |
2 | g.208121834G>A | CA350091766 | CRYGD | c.364C>T (p.His122Tyr) n.97+2609G>A | gnomAD v4 |
2 | g.208121834G>C | CA350091767 | CRYGD | c.364C>G (p.His122Asp) n.97+2609G>C | |
2 | g.208121834G>T | CA350091768 | CRYGD | c.364C>A (p.His122Asn) n.97+2609G>T | |
2 | g.208121835G>A | CA430964501 | CRYGD | c.363C>T (p.Ile121=) n.97+2610G>A | |
2 | g.208121835G>C | CA350091769 | CRYGD | c.363C>G (p.Ile121Met) n.97+2610G>C | gnomAD v4 |
2 | g.208121835G>T | CA430964500 | CRYGD | c.363C>A (p.Ile121=) n.97+2610G>T | |
2 | g.208121836A= | CA1323927757 | CRYGD | c.362T= (p.Ile121=) n.97+2611A= | |
2 | g.208121836A>C | CA350091770 | CRYGD | c.362T>G (p.Ile121Ser) n.97+2611A>C | |
2 | g.208121836A>G | CA350091771 | CRYGD | c.362T>C (p.Ile121Thr) n.97+2611A>G | dbSNP |
2 | g.208121836A>T | CA350091772 | CRYGD | c.362T>A (p.Ile121Asn) n.97+2611A>T | dbSNP |
2 | g.208121837T>A | CA350091773 | CRYGD | c.361A>T (p.Ile121Phe) n.97+2612T>A | |
2 | g.208121837T>C | CA2077647 | CRYGD | c.361A>G (p.Ile121Val) n.97+2612T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121837T>G | CA350091774 | CRYGD | c.361A>C (p.Ile121Leu) n.97+2612T>G | |
2 | g.208121837T= | CA1323927758 | CRYGD | c.361A= (p.Ile121=) n.97+2612T= | |
2 | g.208121838T>A | CA350091776 | CRYGD | c.360A>T (p.Glu120Asp) n.97+2613T>A | dbSNP |
2 | g.208121838T>C | CA430964502 | CRYGD | c.360A>G (p.Glu120=) n.97+2613T>C | |
2 | g.208121838T>G | CA350091775 | CRYGD | c.360A>C (p.Glu120Asp) n.97+2613T>G | |
2 | g.208121838T= | CA1323927759 | CRYGD | c.360A= (p.Glu120=) n.97+2613T= | |
2 | g.208121839T>A | CA350091777 | CRYGD | c.359A>T (p.Glu120Val) n.97+2614T>A | |
2 | g.208121839T>C | CA350091778 | CRYGD | c.359A>G (p.Glu120Gly) n.97+2614T>C | |
2 | g.208121839T>G | CA350091779 | CRYGD | c.359A>C (p.Glu120Ala) n.97+2614T>G | |
2 | g.208121840C>A | CA350091780 | CRYGD | c.358G>T (p.Glu120Ter) n.97+2615C>A | |
2 | g.208121840C>G | CA350091781 | CRYGD | c.358G>C (p.Glu120Gln) n.97+2615C>G | |
2 | g.208121840C>T | CA350091782 | CRYGD | c.358G>A (p.Glu120Lys) n.97+2615C>T | |
2 | g.208121841A= | CA1323927760 | CRYGD | c.357T= (p.Asn119=) n.97+2616A= | |
2 | g.208121841A>C | CA350091783 | CRYGD | c.357T>G (p.Asn119Lys) n.97+2616A>C | |
2 | g.208121841A>G | CA2077648 | CRYGD | c.357T>C (p.Asn119=) n.97+2616A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121841A>T | CA350091784 | CRYGD | c.357T>A (p.Asn119Lys) n.97+2616A>T | |
2 | g.208121842T>A | CA350091785 | CRYGD | c.356A>T (p.Asn119Ile) n.97+2617T>A | |
2 | g.208121842T>C | CA2077649 | CRYGD | c.356A>G (p.Asn119Ser) n.97+2617T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121842T>G | CA350091786 | CRYGD | c.356A>C (p.Asn119Thr) n.97+2617T>G | |
2 | g.208121842T= | CA1323927761 | CRYGD | c.356A= (p.Asn119=) n.97+2617T= | |
2 | g.208121843T>A | CA350091787 | CRYGD | c.355A>T (p.Asn119Tyr) n.97+2618T>A | |
2 | g.208121843T>C | CA350091789 | CRYGD | c.355A>G (p.Asn119Asp) n.97+2618T>C | |
2 | g.208121843T>G | CA350091788 | CRYGD | c.355A>C (p.Asn119His) n.97+2618T>G | |
2 | g.208121844G>A | CA430964504 | CRYGD | c.354C>T (p.Phe118=) n.97+2619G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.208121844G>C | CA350091790 | CRYGD | c.354C>G (p.Phe118Leu) n.97+2619G>C | |
2 | g.208121844G= | CA1323927762 | CRYGD | c.354C= (p.Phe118=) n.97+2619G= | |
2 | g.208121844G>T | CA350091791 | CRYGD | c.354C>A (p.Phe118Leu) n.97+2619G>T | |
2 | g.208121845A= | CA1323927763 | CRYGD | c.353T= (p.Phe118=) n.97+2620A= | |
2 | g.208121845A>C | CA350091792 | CRYGD | c.353T>G (p.Phe118Cys) n.97+2620A>C | |
2 | g.208121845A>G | CA350091794 | CRYGD | c.353T>C (p.Phe118Ser) n.97+2620A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208121845A>T | CA350091793 | CRYGD | c.353T>A (p.Phe118Tyr) n.97+2620A>T | |
2 | g.208121846A>C | CA350091795 | CRYGD | c.352T>G (p.Phe118Val) n.97+2621A>C | gnomAD v4 |
2 | g.208121846A>G | CA350091797 | CRYGD | c.352T>C (p.Phe118Leu) n.97+2621A>G | |
2 | g.208121846A>T | CA350091796 | CRYGD | c.352T>A (p.Phe118Ile) n.97+2621A>T | |
2 | g.208121847G>A | CA430964505 | CRYGD | c.351C>T (p.Arg117=) n.97+2622G>A | dbSNP |
2 | g.208121847G>C | CA430964506 | CRYGD | c.351C>G (p.Arg117=) n.97+2622G>C | |
2 | g.208121847G= | CA1323927764 | CRYGD | c.351C= (p.Arg117=) n.97+2622G= | |
2 | g.208121847G>T | CA430964507 | CRYGD | c.351C>A (p.Arg117=) n.97+2622G>T | |
2 | g.208121848C>A | CA2077650 | CRYGD | c.350G>T (p.Arg117Leu) n.97+2623C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121848C= | CA1323927765 | CRYGD | c.350G= (p.Arg117=) n.97+2623C= | |
2 | g.208121848C>G | CA350091798 | CRYGD | c.350G>C (p.Arg117Pro) n.97+2623C>G | |
2 | g.208121848C>T | CA2077651 | CRYGD | c.350G>A (p.Arg117His) n.97+2623C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121849G>A | CA2077652 | CRYGD | c.349C>T (p.Arg117Cys) n.97+2624G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121849G>C | CA350091799 | CRYGD | c.349C>G (p.Arg117Gly) n.97+2624G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121849G= | CA1323927766 | CRYGD | c.349C= (p.Arg117=) n.97+2624G= | |
2 | g.208121849G>T | CA350091800 | CRYGD | c.349C>A (p.Arg117Ser) n.97+2624G>T | |
2 | g.208121850G>A | CA430964508 | CRYGD | c.348C>T (p.Phe116=) n.97+2625G>A | |
2 | g.208121850G>C | CA350091801 | CRYGD | c.348C>G (p.Phe116Leu) n.97+2625G>C | |
2 | g.208121850G>T | CA350091802 | CRYGD | c.348C>A (p.Phe116Leu) n.97+2625G>T | |
2 | g.208121851A>C | CA350091805 | CRYGD | c.347T>G (p.Phe116Cys) n.97+2626A>C | |
2 | g.208121851A>G | CA350091804 | CRYGD | c.347T>C (p.Phe116Ser) n.97+2626A>G | |
2 | g.208121851A>T | CA350091803 | CRYGD | c.347T>A (p.Phe116Tyr) n.97+2626A>T | |
2 | g.208121852del | CA2586971116 | CRYGD | c.347del (p.Phe116SerfsTer?) n.97+2627del | |
2 | g.208121852A>C | CA350091806 | CRYGD | c.346T>G (p.Phe116Val) n.97+2627A>C | |
2 | g.208121852A>G | CA350091807 | CRYGD | c.346T>C (p.Phe116Leu) n.97+2627A>G | |
2 | g.208121852A>T | CA350091808 | CRYGD | c.346T>A (p.Phe116Ile) n.97+2627A>T | |
2 | g.208121853G>A | CA430964509 | CRYGD | c.345C>T (p.Arg115=) n.97+2628G>A | |
2 | g.208121853G>C | CA430964510 | CRYGD | c.345C>G (p.Arg115=) n.97+2628G>C | |
2 | g.208121853G= | CA1323927767 | CRYGD | c.345C= (p.Arg115=) n.97+2628G= | |
2 | g.208121853G>T | CA430964511 | CRYGD | c.345C>A (p.Arg115=) n.97+2628G>T | dbSNP |
2 | g.208121854C>A | CA350091809 | CRYGD | c.344G>T (p.Arg115Leu) n.97+2629C>A | dbSNP gnomAD v4 |
2 | g.208121854C= | CA1323927768 | CRYGD | c.344G= (p.Arg115=) n.97+2629C= | |
2 | g.208121854C>G | CA350091810 | CRYGD | c.344G>C (p.Arg115Pro) n.97+2629C>G | |
2 | g.208121854C>T | CA2077653 | CRYGD | c.344G>A (p.Arg115His) n.97+2629C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121855G>A | CA2077654 | CRYGD | c.343C>T (p.Arg115Cys) n.97+2630G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121855G>C | CA2077655 | CRYGD | c.343C>G (p.Arg115Gly) n.97+2630G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121855G= | CA1323927769 | CRYGD | c.343C= (p.Arg115=) n.97+2630G= | |
2 | g.208121855G>T | CA350091811 | CRYGD | c.343C>A (p.Arg115Ser) n.97+2630G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121856G>A | CA430964512 | CRYGD | c.342C>T (p.Asp114=) n.97+2631G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.208121856G>C | CA350091812 | CRYGD | c.342C>G (p.Asp114Glu) n.97+2631G>C | dbSNP |
2 | g.208121856G= | CA1323927770 | CRYGD | c.342C= (p.Asp114=) n.97+2631G= | |
2 | g.208121856G>T | CA350091813 | CRYGD | c.342C>A (p.Asp114Glu) n.97+2631G>T | |
2 | g.208121857T>A | CA2077656 | CRYGD | c.341A>T (p.Asp114Val) n.97+2632T>A | dbSNP ExAC |
2 | g.208121857T>C | CA350091814 | CRYGD | c.341A>G (p.Asp114Gly) n.97+2632T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208121857T>G | CA350091815 | CRYGD | c.341A>C (p.Asp114Ala) n.97+2632T>G | |
2 | g.208121857T= | CA1323927771 | CRYGD | c.341A= (p.Asp114=) n.97+2632T= | |
2 | g.208121858C>A | CA350091816 | CRYGD | c.340G>T (p.Asp114Tyr) n.97+2633C>A | |
2 | g.208121858C>G | CA350091817 | CRYGD | c.340G>C (p.Asp114His) n.97+2633C>G | |
2 | g.208121858C>T | CA350091818 | CRYGD | c.340G>A (p.Asp114Asn) n.97+2633C>T | |
2 | g.208121859C>A | CA350091819 | CRYGD | c.339G>T (p.Gln113His) n.97+2634C>A | |
2 | g.208121859C= | CA1323927772 | CRYGD | c.339G= (p.Gln113=) n.97+2634C= | |
2 | g.208121859C>G | CA350091820 | CRYGD | c.339G>C (p.Gln113His) n.97+2634C>G | |
2 | g.208121859C>T | CA430964513 | CRYGD | c.339G>A (p.Gln113=) n.97+2634C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208121860T>A | CA350091821 | CRYGD | c.338A>T (p.Gln113Leu) n.97+2635T>A | |
2 | g.208121860T>C | CA350091823 | CRYGD | c.338A>G (p.Gln113Arg) n.97+2635T>C | |
2 | g.208121860T>G | CA350091822 | CRYGD | c.338A>C (p.Gln113Pro) n.97+2635T>G | |
2 | g.208121861G>A | CA350091824 | CRYGD | c.337C>T (p.Gln113Ter) n.97+2636G>A | |
2 | g.208121861G>C | CA350091825 | CRYGD | c.337C>G (p.Gln113Glu) n.97+2636G>C | |
2 | g.208121861G>T | CA350091826 | CRYGD | c.337C>A (p.Gln113Lys) n.97+2636G>T | |
2 | g.208121862A>C | CA430964514 | CRYGD | c.336T>G (p.Leu112=) n.97+2637A>C | |
2 | g.208121862A>G | CA430964515 | CRYGD | c.336T>C (p.Leu112=) n.97+2637A>G | |
2 | g.208121862A>T | CA430964516 | CRYGD | c.336T>A (p.Leu112=) n.97+2637A>T | |
2 | g.208121863A>C | CA350091827 | CRYGD | c.335T>G (p.Leu112Arg) n.97+2638A>C | |
2 | g.208121863A>G | CA350091828 | CRYGD | c.335T>C (p.Leu112Pro) n.97+2638A>G | |
2 | g.208121863A>T | CA350091829 | CRYGD | c.335T>A (p.Leu112His) n.97+2638A>T | |
2 | g.208121864G>A | CA2077658 | CRYGD | c.334C>T (p.Leu112Phe) n.97+2639G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121864G>C | CA2077657 | CRYGD | c.334C>G (p.Leu112Val) n.97+2639G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121864G= | CA1323927773 | CRYGD | c.334C= (p.Leu112=) n.97+2639G= | |
2 | g.208121864G>T | CA350091830 | CRYGD | c.334C>A (p.Leu112Ile) n.97+2639G>T | |
2 | g.208121865A= | CA1323927774 | CRYGD | c.333T= (p.Cys111=) n.97+2640A= | |
2 | g.208121865A>C | CA350091831 | CRYGD | c.333T>G (p.Cys111Trp) n.97+2640A>C | |
2 | g.208121865A>G | CA64606147 | CRYGD | c.333T>C (p.Cys111=) n.97+2640A>G | ClinVar dbSNP |
2 | g.208121865A>T | CA350091832 | CRYGD | c.333T>A (p.Cys111Ter) n.97+2640A>T | |
2 | g.208121866C>A | CA350091835 | CRYGD | c.332G>T (p.Cys111Phe) n.97+2641C>A | |
2 | g.208121866C= | CA1323927775 | CRYGD | c.332G= (p.Cys111=) n.97+2641C= | |
2 | g.208121866C>G | CA350091833 | CRYGD | c.332G>C (p.Cys111Ser) n.97+2641C>G | gnomAD v4 |
2 | g.208121866C>T | CA350091834 | CRYGD | c.332G>A (p.Cys111Tyr) n.97+2641C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208121867A= | CA1323927776 | CRYGD | c.331T= (p.Cys111=) n.97+2642A= | |
2 | g.208121867A>C | CA350091836 | CRYGD | c.331T>G (p.Cys111Gly) n.97+2642A>C | |
2 | g.208121867A>G | CA350091837 | CRYGD | c.331T>C (p.Cys111Arg) n.97+2642A>G | dbSNP gnomAD v4 |
2 | g.208121867A>T | CA350091838 | CRYGD | c.331T>A (p.Cys111Ser) n.97+2642A>T | |
2 | g.208121868G>A | CA430964518 | CRYGD | c.330C>T (p.Ser110=) n.97+2643G>A | |
2 | g.208121868G>C | CA430964519 | CRYGD | c.330C>G (p.Ser110=) n.97+2643G>C | gnomAD v4 |
2 | g.208121868G>T | CA430964520 | CRYGD | c.330C>A (p.Ser110=) n.97+2643G>T | |
2 | g.208121869G>A | CA350091839 | CRYGD | c.329C>T (p.Ser110Phe) n.97+2644G>A | dbSNP |
2 | g.208121869G>C | CA350091840 | CRYGD | c.329C>G (p.Ser110Cys) n.97+2644G>C | gnomAD v4 |
2 | g.208121869G= | CA1323927777 | CRYGD | c.329C= (p.Ser110=) n.97+2644G= | |
2 | g.208121869G>T | CA350091841 | CRYGD | c.329C>A (p.Ser110Tyr) n.97+2644G>T | |
2 | g.208121870A>C | CA350091842 | CRYGD | c.328T>G (p.Ser110Ala) n.97+2645A>C | |
2 | g.208121870A>G | CA350091843 | CRYGD | c.328T>C (p.Ser110Pro) n.97+2645A>G | |
2 | g.208121870A>T | CA350091844 | CRYGD | c.328T>A (p.Ser110Thr) n.97+2645A>T | |
2 | g.208121871G>A | CA430964521 | CRYGD | c.327C>T (p.Cys109=) n.97+2646G>A | |
2 | g.208121871G>C | CA350091845 | CRYGD | c.327C>G (p.Cys109Trp) n.97+2646G>C | |
2 | g.208121871G>T | CA350091846 | CRYGD | c.327C>A (p.Cys109Ter) n.97+2646G>T | |
2 | g.208121872C>A | CA350091848 | CRYGD | c.326G>T (p.Cys109Phe) n.97+2647C>A | |
2 | g.208121872C>G | CA350091850 | CRYGD | c.326G>C (p.Cys109Ser) n.97+2647C>G | |
2 | g.208121872C>T | CA350091847 | CRYGD | c.326G>A (p.Cys109Tyr) n.97+2647C>T | |
2 | g.208121872_208121873delinsCA | CA1323927778 | CRYGD | c.325_326delinsTG (p.Cys109=) n.97+2647_97+2648delinsCA | |
2 | g.208121873del | CA539389025 | CRYGD | c.325del (p.Cys109AlafsTer?) n.97+2648del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208121873A= | CA1323927779 | CRYGD | c.325T= (p.Cys109=) n.97+2648A= | |
2 | g.208121873A>C | CA2077659 | CRYGD | c.325T>G (p.Cys109Gly) n.97+2648A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121873A>G | CA350091853 | CRYGD | c.325T>C (p.Cys109Arg) n.97+2648A>G | |
2 | g.208121873A>T | CA350091855 | CRYGD | c.325T>A (p.Cys109Ser) n.97+2648A>T | |
2 | g.208121874G>A | CA430964522 | CRYGD | c.324C>T (p.Asp108=) n.97+2649G>A | |
2 | g.208121874G>C | CA350091859 | CRYGD | c.324C>G (p.Asp108Glu) n.97+2649G>C | |
2 | g.208121874G>T | CA350091861 | CRYGD | c.324C>A (p.Asp108Glu) n.97+2649G>T | |
2 | g.208121875T>A | CA350091864 | CRYGD | c.323A>T (p.Asp108Val) n.97+2650T>A | gnomAD v4 |
2 | g.208121875T>C | CA350091866 | CRYGD | c.323A>G (p.Asp108Gly) n.97+2650T>C | gnomAD v4 |
2 | g.208121875T>G | CA350091868 | CRYGD | c.323A>C (p.Asp108Ala) n.97+2650T>G | |
2 | g.208121876C>A | CA350091871 | CRYGD | c.322G>T (p.Asp108Tyr) n.97+2651C>A | |
2 | g.208121876C= | CA1323927780 | CRYGD | c.322G= (p.Asp108=) n.97+2651C= | |
2 | g.208121876C>G | CA350091873 | CRYGD | c.322G>C (p.Asp108His) n.97+2651C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208121876C>T | CA350091876 | CRYGD | c.322G>A (p.Asp108Asn) n.97+2651C>T | |
2 | g.208121877C>A | CA350091879 | CRYGD | c.321G>T (p.Glu107Asp) n.97+2652C>A | |
2 | g.208121877C>G | CA350091881 | CRYGD | c.321G>C (p.Glu107Asp) n.97+2652C>G | |
2 | g.208121877C>T | CA430964523 | CRYGD | c.321G>A (p.Glu107=) n.97+2652C>T | gnomAD v4 |
2 | g.208121878T>A | CA350091888 | CRYGD | c.320A>T (p.Glu107Val) n.97+2653T>A | |
2 | g.208121878T>C | CA350091884 | CRYGD | c.320A>G (p.Glu107Gly) n.97+2653T>C | |
2 | g.208121878T>G | CA350091886 | CRYGD | c.320A>C (p.Glu107Ala) n.97+2653T>G | |
2 | g.208121879C>A | CA350091891 | CRYGD | c.319G>T (p.Glu107Ter) n.97+2654C>A | |
2 | g.208121879C>G | CA350091893 | CRYGD | c.319G>C (p.Glu107Gln) n.97+2654C>G | |
2 | g.208121879C>T | CA350091895 | CRYGD | c.319G>A (p.Glu107Lys) n.97+2654C>T | |
2 | g.208121879_208121880del | CA2662865506 | CRYGD | c.318_319del (p.Glu107GlyfsTer13) n.97+2654_97+2655del | gnomAD v4 |
2 | g.208121880A>C | CA430964524 | CRYGD | c.318T>G (p.Thr106=) n.97+2655A>C | |
2 | g.208121880A>G | CA430964525 | CRYGD | c.318T>C (p.Thr106=) n.97+2655A>G | |
2 | g.208121880A>T | CA430964526 | CRYGD | c.318T>A (p.Thr106=) n.97+2655A>T | |
2 | g.208121881G>A | CA350091898 | CRYGD | c.317C>T (p.Thr106Ile) n.97+2656G>A | dbSNP |
2 | g.208121881G>C | CA350091901 | CRYGD | c.317C>G (p.Thr106Ser) n.97+2656G>C | |
2 | g.208121881G= | CA1323927781 | CRYGD | c.317C= (p.Thr106=) n.97+2656G= | |
2 | g.208121881G>T | CA350091903 | CRYGD | c.317C>A (p.Thr106Asn) n.97+2656G>T | |
2 | g.208121882T>A | CA350091906 | CRYGD | c.316A>T (p.Thr106Ser) n.97+2657T>A | gnomAD v4 |
2 | g.208121882T>C | CA350091907 | CRYGD | c.316A>G (p.Thr106Ala) n.97+2657T>C | dbSNP |
2 | g.208121882T>G | CA350091909 | CRYGD | c.316A>C (p.Thr106Pro) n.97+2657T>G | |
2 | g.208121882T= | CA1323927782 | CRYGD | c.316A= (p.Thr106=) n.97+2657T= | |
2 | g.208121883G>A | CA430964527 | CRYGD | c.315C>T (p.Phe105=) n.97+2658G>A | |
2 | g.208121883G>C | CA350091912 | CRYGD | c.315C>G (p.Phe105Leu) n.97+2658G>C | |
2 | g.208121883G>T | CA350091914 | CRYGD | c.315C>A (p.Phe105Leu) n.97+2658G>T | |
2 | g.208121884A= | CA1323927783 | CRYGD | c.314T= (p.Phe105=) n.97+2659A= | |
2 | g.208121884A>C | CA350091918 | CRYGD | c.314T>G (p.Phe105Cys) n.97+2659A>C | |
2 | g.208121884A>G | CA350091921 | CRYGD | c.314T>C (p.Phe105Ser) n.97+2659A>G | |
2 | g.208121884A>T | CA350091916 | CRYGD | c.314T>A (p.Phe105Tyr) n.97+2659A>T | dbSNP |
2 | g.208121885A>C | CA350091924 | CRYGD | c.313T>G (p.Phe105Val) n.97+2660A>C | |
2 | g.208121885A>G | CA350091926 | CRYGD | c.313T>C (p.Phe105Leu) n.97+2660A>G | |
2 | g.208121885A>T | CA350091928 | CRYGD | c.313T>A (p.Phe105Ile) n.97+2660A>T | |
2 | g.208121886C>A | CA350091931 | CRYGD | c.312G>T (p.Glu104Asp) n.97+2661C>A | |
2 | g.208121886C>G | CA350091933 | CRYGD | c.312G>C (p.Glu104Asp) n.97+2661C>G | |
2 | g.208121886C>T | CA430964528 | CRYGD | c.312G>A (p.Glu104=) n.97+2661C>T | gnomAD v4 |
2 | g.208121887T>A | CA350091935 | CRYGD | c.311A>T (p.Glu104Val) n.97+2662T>A | |
2 | g.208121887T>C | CA2077660 | CRYGD | c.311A>G (p.Glu104Gly) n.97+2662T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208121887T>G | CA350091939 | CRYGD | c.311A>C (p.Glu104Ala) n.97+2662T>G | |
2 | g.208121887T= | CA1323927784 | CRYGD | c.311A= (p.Glu104=) n.97+2662T= | |
2 | g.208121888C>A | CA350091942 | CRYGD | c.310G>T (p.Glu104Ter) n.97+2663C>A | |
2 | g.208121888C= | CA1323927785 | CRYGD | c.310G= (p.Glu104=) n.97+2663C= | |
2 | g.208121888C>G | CA2077661 | CRYGD | c.310G>C (p.Glu104Gln) n.97+2663C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208121888C>T | CA350091946 | CRYGD | c.310G>A (p.Glu104Lys) n.97+2663C>T | gnomAD v4 |
2 | g.208121889T>A | CA430964529 | CRYGD | c.309A>T (p.Ile103=) n.97+2664T>A | |
2 | g.208121889T>C | CA350091948 | CRYGD | c.309A>G (p.Ile103Met) n.97+2664T>C | |
2 | g.208121889T>G | CA430964530 | CRYGD | c.309A>C (p.Ile103=) n.97+2664T>G | |
2 | g.208121889dup | CA2586971117 | CRYGD | c.309dup (p.Glu104ArgfsTer4) n.97+2664dup | |
2 | g.208121890A>C | CA350091954 | CRYGD | c.308T>G (p.Ile103Arg) n.97+2665A>C | |
2 | g.208121890A>G | CA350091955 | CRYGD | c.308T>C (p.Ile103Thr) n.97+2665A>G | gnomAD v4 |
2 | g.208121890A>T | CA350091952 | CRYGD | c.308T>A (p.Ile103Lys) n.97+2665A>T | |
2 | g.208121891T>A | CA350091959 | CRYGD | c.307A>T (p.Ile103Leu) n.97+2666T>A | |
2 | g.208121891T>C | CA350091961 | CRYGD | c.307A>G (p.Ile103Val) n.97+2666T>C | |
2 | g.208121891T>G | CA350091963 | CRYGD | c.307A>C (p.Ile103Leu) n.97+2666T>G | |
2 | g.208121892C>A | CA350091967 | CRYGD | c.306G>T (p.Met102Ile) n.97+2667C>A | |
2 | g.208121892C= | CA1323927786 | CRYGD | c.306G= (p.Met102=) n.97+2667C= | |
2 | g.208121892C>G | CA350091968 | CRYGD | c.306G>C (p.Met102Ile) n.97+2667C>G | |
2 | g.208121892C>T | CA350091971 | CRYGD | c.306G>A (p.Met102Ile) n.97+2667C>T | dbSNP |
2 | g.208121893A= | CA1323927787 | CRYGD | c.305T= (p.Met102=) n.97+2668A= | |
2 | g.208121893A>C | CA350091975 | CRYGD | c.305T>G (p.Met102Arg) n.97+2668A>C | |
2 | g.208121893A>G | CA350091979 | CRYGD | c.305T>C (p.Met102Thr) n.97+2668A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208121893A>T | CA350091977 | CRYGD | c.305T>A (p.Met102Lys) n.97+2668A>T | |
2 | g.208121894T>A | CA350091982 | CRYGD | c.304A>T (p.Met102Leu) n.97+2669T>A | |
2 | g.208121894T>C | CA350091984 | CRYGD | c.304A>G (p.Met102Val) n.97+2669T>C | gnomAD v4 |
2 | g.208121894T>G | CA350091986 | CRYGD | c.304A>C (p.Met102Leu) n.97+2669T>G | |
2 | g.208121895C>A | CA350091989 | CRYGD | c.303G>T (p.Gln101His) n.97+2670C>A | |
2 | g.208121895C= | CA1323927788 | CRYGD | c.303G= (p.Gln101=) n.97+2670C= | |
2 | g.208121895C>G | CA350091990 | CRYGD | c.303G>C (p.Gln101His) n.97+2670C>G | |
2 | g.208121895C>T | CA430964531 | CRYGD | c.303G>A (p.Gln101=) n.97+2670C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208121896T>A | CA350091995 | CRYGD | c.302A>T (p.Gln101Leu) n.97+2671T>A | |
2 | g.208121896T>C | CA350091997 | CRYGD | c.302A>G (p.Gln101Arg) n.97+2671T>C | gnomAD v4 |
2 | g.208121896T>G | CA350091993 | CRYGD | c.302A>C (p.Gln101Pro) n.97+2671T>G |