Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.208121787_208121798delinsGGACAGCTCGTACA1323927740CRYGDc.400_411delinsTACGAGCTGTCC (p.Tyr134=)
n.97+2562_97+2573delinsGGACAGCTCGTA
2g.208121790_208121800delCA658796150CRYGDc.400_410del (p.Tyr134GlnfsTer15)
n.97+2565_97+2575del
ClinVar dbSNP
2g.208121796G>ACA2077640CRYGDc.402C>T (p.Tyr134=)
n.97+2571G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208121796G>CCA350091687CRYGDc.402C>G (p.Tyr134Ter)
n.97+2571G>C
dbSNP gnomAD v2 gnomAD v4
2g.208121796G=CA1323927744CRYGDc.402C= (p.Tyr134=)
n.97+2571G=
2g.208121796G>TCA215000CRYGDc.402C>A (p.Tyr134Ter)
n.97+2571G>T
ClinVar dbSNP COSMIC
2g.208121797T>ACA350091688CRYGDc.401A>T (p.Tyr134Phe)
n.97+2572T>A
gnomAD v4 COSMIC
2g.208121797T>CCA2077641CRYGDc.401A>G (p.Tyr134Cys)
n.97+2572T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121797T>GCA350091689CRYGDc.401A>C (p.Tyr134Ser)
n.97+2572T>G
2g.208121797T=CA1323927745CRYGDc.401A= (p.Tyr134=)
n.97+2572T=
2g.208121798A>CCA350091692CRYGDc.400T>G (p.Tyr134Asp)
n.97+2573A>C
gnomAD v4
2g.208121798A>GCA350091691CRYGDc.400T>C (p.Tyr134His)
n.97+2573A>G
2g.208121798A>TCA350091690CRYGDc.400T>A (p.Tyr134Asn)
n.97+2573A>T
gnomAD v4
2g.208121799G>ACA430964471CRYGDc.399C>T (p.Leu133=)
n.97+2574G>A
2g.208121799G>CCA430964472CRYGDc.399C>G (p.Leu133=)
n.97+2574G>C
2g.208121799G>TCA430964473CRYGDc.399C>A (p.Leu133=)
n.97+2574G>T
2g.208121800A>CCA350091693CRYGDc.398T>G (p.Leu133Arg)
n.97+2575A>C
2g.208121800A>GCA350091694CRYGDc.398T>C (p.Leu133Pro)
n.97+2575A>G
gnomAD v4
2g.208121800A>TCA350091695CRYGDc.398T>A (p.Leu133His)
n.97+2575A>T
2g.208121801G>ACA350091696CRYGDc.397C>T (p.Leu133Phe)
n.97+2576G>A
gnomAD v4
2g.208121801G>CCA350091697CRYGDc.397C>G (p.Leu133Val)
n.97+2576G>C
2g.208121801G>TCA350091698CRYGDc.397C>A (p.Leu133Ile)
n.97+2576G>T
2g.208121802G>ACA430964475CRYGDc.396C>T (p.Val132=)
n.97+2577G>A
2g.208121802G>CCA430964477CRYGDc.396C>G (p.Val132=)
n.97+2577G>C
2g.208121802G>TCA430964476CRYGDc.396C>A (p.Val132=)
n.97+2577G>T
2g.208121803A=CA1323927746CRYGDc.395T= (p.Val132=)
n.97+2578A=
2g.208121803A>CCA350091699CRYGDc.395T>G (p.Val132Gly)
n.97+2578A>C
2g.208121803A>GCA350091700CRYGDc.395T>C (p.Val132Ala)
n.97+2578A>G
dbSNP
2g.208121803A>TCA350091701CRYGDc.395T>A (p.Val132Asp)
n.97+2578A>T
2g.208121804C>ACA350091702CRYGDc.394G>T (p.Val132Phe)
n.97+2579C>A
2g.208121804C>GCA350091703CRYGDc.394G>C (p.Val132Leu)
n.97+2579C>G
gnomAD v4
2g.208121804C>TCA350091704CRYGDc.394G>A (p.Val132Ile)
n.97+2579C>T
gnomAD v4
2g.208121805C>ACA350091707CRYGDc.393G>T (p.Trp131Cys)
n.97+2580C>A
2g.208121805C=CA1323927747CRYGDc.393G= (p.Trp131=)
n.97+2580C=
2g.208121805C>GCA350091706CRYGDc.393G>C (p.Trp131Cys)
n.97+2580C>G
dbSNP
2g.208121805C>TCA350091705CRYGDc.393G>A (p.Trp131Ter)
n.97+2580C>T
gnomAD v4
2g.208121806C>ACA350091708CRYGDc.392G>T (p.Trp131Leu)
n.97+2581C>A
2g.208121806C>GCA350091709CRYGDc.392G>C (p.Trp131Ser)
n.97+2581C>G
2g.208121806C>TCA350091710CRYGDc.392G>A (p.Trp131Ter)
n.97+2581C>T
2g.208121807A>CCA350091711CRYGDc.391T>G (p.Trp131Gly)
n.97+2582A>C
2g.208121807A>GCA350091712CRYGDc.391T>C (p.Trp131Arg)
n.97+2582A>G
gnomAD v4
2g.208121807A>TCA350091713CRYGDc.391T>A (p.Trp131Arg)
n.97+2582A>T
2g.208121808G>ACA2077642CRYGDc.390C>T (p.Ser130=)
n.97+2583G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121808G>CCA430964478CRYGDc.390C>G (p.Ser130=)
n.97+2583G>C
gnomAD v4
2g.208121808G=CA1323927748CRYGDc.390C= (p.Ser130=)
n.97+2583G=
2g.208121808G>TCA430964479CRYGDc.390C>A (p.Ser130=)
n.97+2583G>T
2g.208121809G>ACA350091714CRYGDc.389C>T (p.Ser130Phe)
n.97+2584G>A
2g.208121809G>CCA350091715CRYGDc.389C>G (p.Ser130Cys)
n.97+2584G>C
2g.208121809G=CA1323927749CRYGDc.389C= (p.Ser130=)
n.97+2584G=
2g.208121809G>TCA64606080CRYGDc.389C>A (p.Ser130Tyr)
n.97+2584G>T
dbSNP
2g.208121810A>CCA350091716CRYGDc.388T>G (p.Ser130Ala)
n.97+2585A>C
2g.208121810A>GCA350091717CRYGDc.388T>C (p.Ser130Pro)
n.97+2585A>G
2g.208121810A>TCA350091718CRYGDc.388T>A (p.Ser130Thr)
n.97+2585A>T
2g.208121811G>ACA430964480CRYGDc.387C>T (p.Gly129=)
n.97+2586G>A
2g.208121811G>CCA430964481CRYGDc.387C>G (p.Gly129=)
n.97+2586G>C
2g.208121811G>TCA430964482CRYGDc.387C>A (p.Gly129=)
n.97+2586G>T
2g.208121812C>ACA350091721CRYGDc.386G>T (p.Gly129Val)
n.97+2587C>A
2g.208121812C>GCA350091719CRYGDc.386G>C (p.Gly129Ala)
n.97+2587C>G
2g.208121812C>TCA350091720CRYGDc.386G>A (p.Gly129Asp)
n.97+2587C>T
ClinVar dbSNP
2g.208121813C>ACA350091722CRYGDc.385G>T (p.Gly129Cys)
n.97+2588C>A
COSMIC
2g.208121813C>GCA350091723CRYGDc.385G>C (p.Gly129Arg)
n.97+2588C>G
2g.208121813C>TCA350091724CRYGDc.385G>A (p.Gly129Ser)
n.97+2588C>T
2g.208121814C>ACA350091725CRYGDc.384G>T (p.Glu128Asp)
n.97+2589C>A
2g.208121814C>GCA350091726CRYGDc.384G>C (p.Glu128Asp)
n.97+2589C>G
2g.208121814C>TCA430964483CRYGDc.384G>A (p.Glu128=)
n.97+2589C>T
2g.208121815T>ACA350091727CRYGDc.383A>T (p.Glu128Val)
n.97+2590T>A
2g.208121815T>CCA350091728CRYGDc.383A>G (p.Glu128Gly)
n.97+2590T>C
2g.208121815T>GCA350091729CRYGDc.383A>C (p.Glu128Ala)
n.97+2590T>G
2g.208121816C>ACA350091730CRYGDc.382G>T (p.Glu128Ter)
n.97+2591C>A
2g.208121816C>GCA350091731CRYGDc.382G>C (p.Glu128Gln)
n.97+2591C>G
2g.208121816C>TCA350091732CRYGDc.382G>A (p.Glu128Lys)
n.97+2591C>T
2g.208121817C>ACA430964484CRYGDc.381G>T (p.Leu127=)
n.97+2592C>A
2g.208121817C=CA1323927750CRYGDc.381G= (p.Leu127=)
n.97+2592C=
2g.208121817C>GCA430964485CRYGDc.381G>C (p.Leu127=)
n.97+2592C>G
2g.208121817C>TCA430964487CRYGDc.381G>A (p.Leu127=)
n.97+2592C>T
dbSNP gnomAD v3 gnomAD v4
2g.208121818A>CCA350091735CRYGDc.380T>G (p.Leu127Arg)
n.97+2593A>C
2g.208121818A>GCA350091734CRYGDc.380T>C (p.Leu127Pro)
n.97+2593A>G
2g.208121818A>TCA350091733CRYGDc.380T>A (p.Leu127Gln)
n.97+2593A>T
2g.208121819G>ACA430964489CRYGDc.379C>T (p.Leu127=)
n.97+2594G>A
2g.208121819G>CCA350091736CRYGDc.379C>G (p.Leu127Val)
n.97+2594G>C
2g.208121819G>TCA350091737CRYGDc.379C>A (p.Leu127Met)
n.97+2594G>T
gnomAD v4
2g.208121820C>ACA430964491CRYGDc.378G>T (p.Val126=)
n.97+2595C>A
2g.208121820C=CA1323927751CRYGDc.378G= (p.Val126=)
n.97+2595C=
2g.208121820C>GCA430964490CRYGDc.378G>C (p.Val126=)
n.97+2595C>G
2g.208121820C>TCA64606081CRYGDc.378G>A (p.Val126=)
n.97+2595C>T
dbSNP gnomAD v4
2g.208121821A>CCA350091738CRYGDc.377T>G (p.Val126Gly)
n.97+2596A>C
2g.208121821A>GCA350091739CRYGDc.377T>C (p.Val126Ala)
n.97+2596A>G
2g.208121821A>TCA350091740CRYGDc.377T>A (p.Val126Glu)
n.97+2596A>T
2g.208121822C>ACA350091741CRYGDc.376G>T (p.Val126Leu)
n.97+2597C>A
2g.208121822C=CA1323927752CRYGDc.376G= (p.Val126=)
n.97+2597C=
2g.208121822C>GCA350091742CRYGDc.376G>C (p.Val126Leu)
n.97+2597C>G
2g.208121822C>TCA2077643CRYGDc.376G>A (p.Val126Met)
n.97+2597C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121823G>ACA430964493CRYGDc.375C>T (p.Asn125=)
n.97+2598G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.208121823G>CCA350091743CRYGDc.375C>G (p.Asn125Lys)
n.97+2598G>C
2g.208121823G=CA1323927753CRYGDc.375C= (p.Asn125=)
n.97+2598G=
2g.208121823G>TCA2077644CRYGDc.375C>A (p.Asn125Lys)
n.97+2598G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208121824T>ACA350091744CRYGDc.374A>T (p.Asn125Ile)
n.97+2599T>A
2g.208121824T>CCA350091745CRYGDc.374A>G (p.Asn125Ser)
n.97+2599T>C
2g.208121824T>GCA350091746CRYGDc.374A>C (p.Asn125Thr)
n.97+2599T>G
2g.208121825T>ACA350091749CRYGDc.373A>T (p.Asn125Tyr)
n.97+2600T>A
2g.208121825T>CCA350091748CRYGDc.373A>G (p.Asn125Asp)
n.97+2600T>C
2g.208121825T>GCA350091747CRYGDc.373A>C (p.Asn125His)
n.97+2600T>G
2g.208121826G>ACA430964494CRYGDc.372C>T (p.Leu124=)
n.97+2601G>A
2g.208121826G>CCA430964496CRYGDc.372C>G (p.Leu124=)
n.97+2601G>C
2g.208121826G>TCA430964495CRYGDc.372C>A (p.Leu124=)
n.97+2601G>T
2g.208121827A>CCA350091750CRYGDc.371T>G (p.Leu124Arg)
n.97+2602A>C
2g.208121827A>GCA350091751CRYGDc.371T>C (p.Leu124Pro)
n.97+2602A>G
2g.208121827A>TCA350091752CRYGDc.371T>A (p.Leu124His)
n.97+2602A>T
2g.208121828G>ACA350091753CRYGDc.370C>T (p.Leu124Phe)
n.97+2603G>A
gnomAD v4
2g.208121828G>CCA350091754CRYGDc.370C>G (p.Leu124Val)
n.97+2603G>C
2g.208121828G>TCA350091755CRYGDc.370C>A (p.Leu124Ile)
n.97+2603G>T
2g.208121829G>ACA430964497CRYGDc.369C>T (p.Ser123=)
n.97+2604G>A
2g.208121829G>CCA430964498CRYGDc.369C>G (p.Ser123=)
n.97+2604G>C
2g.208121829G>TCA430964499CRYGDc.369C>A (p.Ser123=)
n.97+2604G>T
2g.208121830G>ACA350091756CRYGDc.368C>T (p.Ser123Phe)
n.97+2605G>A
dbSNP gnomAD v3 gnomAD v4
2g.208121830G>CCA350091757CRYGDc.368C>G (p.Ser123Cys)
n.97+2605G>C
2g.208121830G=CA1323927754CRYGDc.368C= (p.Ser123=)
n.97+2605G=
2g.208121830G>TCA350091758CRYGDc.368C>A (p.Ser123Tyr)
n.97+2605G>T
dbSNP
2g.208121831A=CA1323927755CRYGDc.367T= (p.Ser123=)
n.97+2606A=
2g.208121831A>CCA350091759CRYGDc.367T>G (p.Ser123Ala)
n.97+2606A>C
2g.208121831A>GCA2077645CRYGDc.367T>C (p.Ser123Pro)
n.97+2606A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121831A>TCA350091760CRYGDc.367T>A (p.Ser123Thr)
n.97+2606A>T
2g.208121832G>ACA2077646CRYGDc.366C>T (p.His122=)
n.97+2607G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121832G>CCA350091762CRYGDc.366C>G (p.His122Gln)
n.97+2607G>C
2g.208121832G=CA1323927756CRYGDc.366C= (p.His122=)
n.97+2607G=
2g.208121832G>TCA350091761CRYGDc.366C>A (p.His122Gln)
n.97+2607G>T
2g.208121833T>ACA350091763CRYGDc.365A>T (p.His122Leu)
n.97+2608T>A
2g.208121833T>CCA350091764CRYGDc.365A>G (p.His122Arg)
n.97+2608T>C
2g.208121833T>GCA350091765CRYGDc.365A>C (p.His122Pro)
n.97+2608T>G
gnomAD v4
2g.208121834G>ACA350091766CRYGDc.364C>T (p.His122Tyr)
n.97+2609G>A
gnomAD v4
2g.208121834G>CCA350091767CRYGDc.364C>G (p.His122Asp)
n.97+2609G>C
2g.208121834G>TCA350091768CRYGDc.364C>A (p.His122Asn)
n.97+2609G>T
2g.208121835G>ACA430964501CRYGDc.363C>T (p.Ile121=)
n.97+2610G>A
2g.208121835G>CCA350091769CRYGDc.363C>G (p.Ile121Met)
n.97+2610G>C
gnomAD v4
2g.208121835G>TCA430964500CRYGDc.363C>A (p.Ile121=)
n.97+2610G>T
2g.208121836A=CA1323927757CRYGDc.362T= (p.Ile121=)
n.97+2611A=
2g.208121836A>CCA350091770CRYGDc.362T>G (p.Ile121Ser)
n.97+2611A>C
2g.208121836A>GCA350091771CRYGDc.362T>C (p.Ile121Thr)
n.97+2611A>G
dbSNP
2g.208121836A>TCA350091772CRYGDc.362T>A (p.Ile121Asn)
n.97+2611A>T
dbSNP
2g.208121837T>ACA350091773CRYGDc.361A>T (p.Ile121Phe)
n.97+2612T>A
2g.208121837T>CCA2077647CRYGDc.361A>G (p.Ile121Val)
n.97+2612T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121837T>GCA350091774CRYGDc.361A>C (p.Ile121Leu)
n.97+2612T>G
2g.208121837T=CA1323927758CRYGDc.361A= (p.Ile121=)
n.97+2612T=
2g.208121838T>ACA350091776CRYGDc.360A>T (p.Glu120Asp)
n.97+2613T>A
dbSNP
2g.208121838T>CCA430964502CRYGDc.360A>G (p.Glu120=)
n.97+2613T>C
2g.208121838T>GCA350091775CRYGDc.360A>C (p.Glu120Asp)
n.97+2613T>G
2g.208121838T=CA1323927759CRYGDc.360A= (p.Glu120=)
n.97+2613T=
2g.208121839T>ACA350091777CRYGDc.359A>T (p.Glu120Val)
n.97+2614T>A
2g.208121839T>CCA350091778CRYGDc.359A>G (p.Glu120Gly)
n.97+2614T>C
2g.208121839T>GCA350091779CRYGDc.359A>C (p.Glu120Ala)
n.97+2614T>G
2g.208121840C>ACA350091780CRYGDc.358G>T (p.Glu120Ter)
n.97+2615C>A
2g.208121840C>GCA350091781CRYGDc.358G>C (p.Glu120Gln)
n.97+2615C>G
2g.208121840C>TCA350091782CRYGDc.358G>A (p.Glu120Lys)
n.97+2615C>T
2g.208121841A=CA1323927760CRYGDc.357T= (p.Asn119=)
n.97+2616A=
2g.208121841A>CCA350091783CRYGDc.357T>G (p.Asn119Lys)
n.97+2616A>C
2g.208121841A>GCA2077648CRYGDc.357T>C (p.Asn119=)
n.97+2616A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121841A>TCA350091784CRYGDc.357T>A (p.Asn119Lys)
n.97+2616A>T
2g.208121842T>ACA350091785CRYGDc.356A>T (p.Asn119Ile)
n.97+2617T>A
2g.208121842T>CCA2077649CRYGDc.356A>G (p.Asn119Ser)
n.97+2617T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121842T>GCA350091786CRYGDc.356A>C (p.Asn119Thr)
n.97+2617T>G
2g.208121842T=CA1323927761CRYGDc.356A= (p.Asn119=)
n.97+2617T=
2g.208121843T>ACA350091787CRYGDc.355A>T (p.Asn119Tyr)
n.97+2618T>A
2g.208121843T>CCA350091789CRYGDc.355A>G (p.Asn119Asp)
n.97+2618T>C
2g.208121843T>GCA350091788CRYGDc.355A>C (p.Asn119His)
n.97+2618T>G
2g.208121844G>ACA430964504CRYGDc.354C>T (p.Phe118=)
n.97+2619G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.208121844G>CCA350091790CRYGDc.354C>G (p.Phe118Leu)
n.97+2619G>C
2g.208121844G=CA1323927762CRYGDc.354C= (p.Phe118=)
n.97+2619G=
2g.208121844G>TCA350091791CRYGDc.354C>A (p.Phe118Leu)
n.97+2619G>T
2g.208121845A=CA1323927763CRYGDc.353T= (p.Phe118=)
n.97+2620A=
2g.208121845A>CCA350091792CRYGDc.353T>G (p.Phe118Cys)
n.97+2620A>C
2g.208121845A>GCA350091794CRYGDc.353T>C (p.Phe118Ser)
n.97+2620A>G
dbSNP gnomAD v3 gnomAD v4
2g.208121845A>TCA350091793CRYGDc.353T>A (p.Phe118Tyr)
n.97+2620A>T
2g.208121846A>CCA350091795CRYGDc.352T>G (p.Phe118Val)
n.97+2621A>C
gnomAD v4
2g.208121846A>GCA350091797CRYGDc.352T>C (p.Phe118Leu)
n.97+2621A>G
2g.208121846A>TCA350091796CRYGDc.352T>A (p.Phe118Ile)
n.97+2621A>T
2g.208121847G>ACA430964505CRYGDc.351C>T (p.Arg117=)
n.97+2622G>A
dbSNP
2g.208121847G>CCA430964506CRYGDc.351C>G (p.Arg117=)
n.97+2622G>C
2g.208121847G=CA1323927764CRYGDc.351C= (p.Arg117=)
n.97+2622G=
2g.208121847G>TCA430964507CRYGDc.351C>A (p.Arg117=)
n.97+2622G>T
2g.208121848C>ACA2077650CRYGDc.350G>T (p.Arg117Leu)
n.97+2623C>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121848C=CA1323927765CRYGDc.350G= (p.Arg117=)
n.97+2623C=
2g.208121848C>GCA350091798CRYGDc.350G>C (p.Arg117Pro)
n.97+2623C>G
2g.208121848C>TCA2077651CRYGDc.350G>A (p.Arg117His)
n.97+2623C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121849G>ACA2077652CRYGDc.349C>T (p.Arg117Cys)
n.97+2624G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121849G>CCA350091799CRYGDc.349C>G (p.Arg117Gly)
n.97+2624G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208121849G=CA1323927766CRYGDc.349C= (p.Arg117=)
n.97+2624G=
2g.208121849G>TCA350091800CRYGDc.349C>A (p.Arg117Ser)
n.97+2624G>T
2g.208121850G>ACA430964508CRYGDc.348C>T (p.Phe116=)
n.97+2625G>A
2g.208121850G>CCA350091801CRYGDc.348C>G (p.Phe116Leu)
n.97+2625G>C
2g.208121850G>TCA350091802CRYGDc.348C>A (p.Phe116Leu)
n.97+2625G>T
2g.208121851A>CCA350091805CRYGDc.347T>G (p.Phe116Cys)
n.97+2626A>C
2g.208121851A>GCA350091804CRYGDc.347T>C (p.Phe116Ser)
n.97+2626A>G
2g.208121851A>TCA350091803CRYGDc.347T>A (p.Phe116Tyr)
n.97+2626A>T
2g.208121852delCA2586971116CRYGDc.347del (p.Phe116SerfsTer?)
n.97+2627del
2g.208121852A>CCA350091806CRYGDc.346T>G (p.Phe116Val)
n.97+2627A>C
2g.208121852A>GCA350091807CRYGDc.346T>C (p.Phe116Leu)
n.97+2627A>G
2g.208121852A>TCA350091808CRYGDc.346T>A (p.Phe116Ile)
n.97+2627A>T
2g.208121853G>ACA430964509CRYGDc.345C>T (p.Arg115=)
n.97+2628G>A
2g.208121853G>CCA430964510CRYGDc.345C>G (p.Arg115=)
n.97+2628G>C
2g.208121853G=CA1323927767CRYGDc.345C= (p.Arg115=)
n.97+2628G=
2g.208121853G>TCA430964511CRYGDc.345C>A (p.Arg115=)
n.97+2628G>T
dbSNP
2g.208121854C>ACA350091809CRYGDc.344G>T (p.Arg115Leu)
n.97+2629C>A
dbSNP gnomAD v4
2g.208121854C=CA1323927768CRYGDc.344G= (p.Arg115=)
n.97+2629C=
2g.208121854C>GCA350091810CRYGDc.344G>C (p.Arg115Pro)
n.97+2629C>G
2g.208121854C>TCA2077653CRYGDc.344G>A (p.Arg115His)
n.97+2629C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121855G>ACA2077654CRYGDc.343C>T (p.Arg115Cys)
n.97+2630G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121855G>CCA2077655CRYGDc.343C>G (p.Arg115Gly)
n.97+2630G>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121855G=CA1323927769CRYGDc.343C= (p.Arg115=)
n.97+2630G=
2g.208121855G>TCA350091811CRYGDc.343C>A (p.Arg115Ser)
n.97+2630G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208121856G>ACA430964512CRYGDc.342C>T (p.Asp114=)
n.97+2631G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.208121856G>CCA350091812CRYGDc.342C>G (p.Asp114Glu)
n.97+2631G>C
dbSNP
2g.208121856G=CA1323927770CRYGDc.342C= (p.Asp114=)
n.97+2631G=
2g.208121856G>TCA350091813CRYGDc.342C>A (p.Asp114Glu)
n.97+2631G>T
2g.208121857T>ACA2077656CRYGDc.341A>T (p.Asp114Val)
n.97+2632T>A
dbSNP ExAC
2g.208121857T>CCA350091814CRYGDc.341A>G (p.Asp114Gly)
n.97+2632T>C
dbSNP gnomAD v3 gnomAD v4
2g.208121857T>GCA350091815CRYGDc.341A>C (p.Asp114Ala)
n.97+2632T>G
2g.208121857T=CA1323927771CRYGDc.341A= (p.Asp114=)
n.97+2632T=
2g.208121858C>ACA350091816CRYGDc.340G>T (p.Asp114Tyr)
n.97+2633C>A
2g.208121858C>GCA350091817CRYGDc.340G>C (p.Asp114His)
n.97+2633C>G
2g.208121858C>TCA350091818CRYGDc.340G>A (p.Asp114Asn)
n.97+2633C>T
2g.208121859C>ACA350091819CRYGDc.339G>T (p.Gln113His)
n.97+2634C>A
2g.208121859C=CA1323927772CRYGDc.339G= (p.Gln113=)
n.97+2634C=
2g.208121859C>GCA350091820CRYGDc.339G>C (p.Gln113His)
n.97+2634C>G
2g.208121859C>TCA430964513CRYGDc.339G>A (p.Gln113=)
n.97+2634C>T
dbSNP gnomAD v3 gnomAD v4
2g.208121860T>ACA350091821CRYGDc.338A>T (p.Gln113Leu)
n.97+2635T>A
2g.208121860T>CCA350091823CRYGDc.338A>G (p.Gln113Arg)
n.97+2635T>C
2g.208121860T>GCA350091822CRYGDc.338A>C (p.Gln113Pro)
n.97+2635T>G
2g.208121861G>ACA350091824CRYGDc.337C>T (p.Gln113Ter)
n.97+2636G>A
2g.208121861G>CCA350091825CRYGDc.337C>G (p.Gln113Glu)
n.97+2636G>C
2g.208121861G>TCA350091826CRYGDc.337C>A (p.Gln113Lys)
n.97+2636G>T
2g.208121862A>CCA430964514CRYGDc.336T>G (p.Leu112=)
n.97+2637A>C
2g.208121862A>GCA430964515CRYGDc.336T>C (p.Leu112=)
n.97+2637A>G
2g.208121862A>TCA430964516CRYGDc.336T>A (p.Leu112=)
n.97+2637A>T
2g.208121863A>CCA350091827CRYGDc.335T>G (p.Leu112Arg)
n.97+2638A>C
2g.208121863A>GCA350091828CRYGDc.335T>C (p.Leu112Pro)
n.97+2638A>G
2g.208121863A>TCA350091829CRYGDc.335T>A (p.Leu112His)
n.97+2638A>T
2g.208121864G>ACA2077658CRYGDc.334C>T (p.Leu112Phe)
n.97+2639G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121864G>CCA2077657CRYGDc.334C>G (p.Leu112Val)
n.97+2639G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121864G=CA1323927773CRYGDc.334C= (p.Leu112=)
n.97+2639G=
2g.208121864G>TCA350091830CRYGDc.334C>A (p.Leu112Ile)
n.97+2639G>T
2g.208121865A=CA1323927774CRYGDc.333T= (p.Cys111=)
n.97+2640A=
2g.208121865A>CCA350091831CRYGDc.333T>G (p.Cys111Trp)
n.97+2640A>C
2g.208121865A>GCA64606147CRYGDc.333T>C (p.Cys111=)
n.97+2640A>G
ClinVar dbSNP
2g.208121865A>TCA350091832CRYGDc.333T>A (p.Cys111Ter)
n.97+2640A>T
2g.208121866C>ACA350091835CRYGDc.332G>T (p.Cys111Phe)
n.97+2641C>A
2g.208121866C=CA1323927775CRYGDc.332G= (p.Cys111=)
n.97+2641C=
2g.208121866C>GCA350091833CRYGDc.332G>C (p.Cys111Ser)
n.97+2641C>G
gnomAD v4
2g.208121866C>TCA350091834CRYGDc.332G>A (p.Cys111Tyr)
n.97+2641C>T
dbSNP gnomAD v2 gnomAD v4
2g.208121867A=CA1323927776CRYGDc.331T= (p.Cys111=)
n.97+2642A=
2g.208121867A>CCA350091836CRYGDc.331T>G (p.Cys111Gly)
n.97+2642A>C
2g.208121867A>GCA350091837CRYGDc.331T>C (p.Cys111Arg)
n.97+2642A>G
dbSNP gnomAD v4
2g.208121867A>TCA350091838CRYGDc.331T>A (p.Cys111Ser)
n.97+2642A>T
2g.208121868G>ACA430964518CRYGDc.330C>T (p.Ser110=)
n.97+2643G>A
2g.208121868G>CCA430964519CRYGDc.330C>G (p.Ser110=)
n.97+2643G>C
gnomAD v4
2g.208121868G>TCA430964520CRYGDc.330C>A (p.Ser110=)
n.97+2643G>T
2g.208121869G>ACA350091839CRYGDc.329C>T (p.Ser110Phe)
n.97+2644G>A
dbSNP
2g.208121869G>CCA350091840CRYGDc.329C>G (p.Ser110Cys)
n.97+2644G>C
gnomAD v4
2g.208121869G=CA1323927777CRYGDc.329C= (p.Ser110=)
n.97+2644G=
2g.208121869G>TCA350091841CRYGDc.329C>A (p.Ser110Tyr)
n.97+2644G>T
2g.208121870A>CCA350091842CRYGDc.328T>G (p.Ser110Ala)
n.97+2645A>C
2g.208121870A>GCA350091843CRYGDc.328T>C (p.Ser110Pro)
n.97+2645A>G
2g.208121870A>TCA350091844CRYGDc.328T>A (p.Ser110Thr)
n.97+2645A>T
2g.208121871G>ACA430964521CRYGDc.327C>T (p.Cys109=)
n.97+2646G>A
2g.208121871G>CCA350091845CRYGDc.327C>G (p.Cys109Trp)
n.97+2646G>C
2g.208121871G>TCA350091846CRYGDc.327C>A (p.Cys109Ter)
n.97+2646G>T
2g.208121872C>ACA350091848CRYGDc.326G>T (p.Cys109Phe)
n.97+2647C>A
2g.208121872C>GCA350091850CRYGDc.326G>C (p.Cys109Ser)
n.97+2647C>G
2g.208121872C>TCA350091847CRYGDc.326G>A (p.Cys109Tyr)
n.97+2647C>T
2g.208121872_208121873delinsCACA1323927778CRYGDc.325_326delinsTG (p.Cys109=)
n.97+2647_97+2648delinsCA
2g.208121873delCA539389025CRYGDc.325del (p.Cys109AlafsTer?)
n.97+2648del
dbSNP gnomAD v2 gnomAD v4
2g.208121873A=CA1323927779CRYGDc.325T= (p.Cys109=)
n.97+2648A=
2g.208121873A>CCA2077659CRYGDc.325T>G (p.Cys109Gly)
n.97+2648A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121873A>GCA350091853CRYGDc.325T>C (p.Cys109Arg)
n.97+2648A>G
2g.208121873A>TCA350091855CRYGDc.325T>A (p.Cys109Ser)
n.97+2648A>T
2g.208121874G>ACA430964522CRYGDc.324C>T (p.Asp108=)
n.97+2649G>A
2g.208121874G>CCA350091859CRYGDc.324C>G (p.Asp108Glu)
n.97+2649G>C
2g.208121874G>TCA350091861CRYGDc.324C>A (p.Asp108Glu)
n.97+2649G>T
2g.208121875T>ACA350091864CRYGDc.323A>T (p.Asp108Val)
n.97+2650T>A
gnomAD v4
2g.208121875T>CCA350091866CRYGDc.323A>G (p.Asp108Gly)
n.97+2650T>C
gnomAD v4
2g.208121875T>GCA350091868CRYGDc.323A>C (p.Asp108Ala)
n.97+2650T>G
2g.208121876C>ACA350091871CRYGDc.322G>T (p.Asp108Tyr)
n.97+2651C>A
2g.208121876C=CA1323927780CRYGDc.322G= (p.Asp108=)
n.97+2651C=
2g.208121876C>GCA350091873CRYGDc.322G>C (p.Asp108His)
n.97+2651C>G
dbSNP gnomAD v2 gnomAD v4
2g.208121876C>TCA350091876CRYGDc.322G>A (p.Asp108Asn)
n.97+2651C>T
2g.208121877C>ACA350091879CRYGDc.321G>T (p.Glu107Asp)
n.97+2652C>A
2g.208121877C>GCA350091881CRYGDc.321G>C (p.Glu107Asp)
n.97+2652C>G
2g.208121877C>TCA430964523CRYGDc.321G>A (p.Glu107=)
n.97+2652C>T
gnomAD v4
2g.208121878T>ACA350091888CRYGDc.320A>T (p.Glu107Val)
n.97+2653T>A
2g.208121878T>CCA350091884CRYGDc.320A>G (p.Glu107Gly)
n.97+2653T>C
2g.208121878T>GCA350091886CRYGDc.320A>C (p.Glu107Ala)
n.97+2653T>G
2g.208121879C>ACA350091891CRYGDc.319G>T (p.Glu107Ter)
n.97+2654C>A
2g.208121879C>GCA350091893CRYGDc.319G>C (p.Glu107Gln)
n.97+2654C>G
2g.208121879C>TCA350091895CRYGDc.319G>A (p.Glu107Lys)
n.97+2654C>T
2g.208121879_208121880delCA2662865506CRYGDc.318_319del (p.Glu107GlyfsTer13)
n.97+2654_97+2655del
gnomAD v4
2g.208121880A>CCA430964524CRYGDc.318T>G (p.Thr106=)
n.97+2655A>C
2g.208121880A>GCA430964525CRYGDc.318T>C (p.Thr106=)
n.97+2655A>G
2g.208121880A>TCA430964526CRYGDc.318T>A (p.Thr106=)
n.97+2655A>T
2g.208121881G>ACA350091898CRYGDc.317C>T (p.Thr106Ile)
n.97+2656G>A
dbSNP
2g.208121881G>CCA350091901CRYGDc.317C>G (p.Thr106Ser)
n.97+2656G>C
2g.208121881G=CA1323927781CRYGDc.317C= (p.Thr106=)
n.97+2656G=
2g.208121881G>TCA350091903CRYGDc.317C>A (p.Thr106Asn)
n.97+2656G>T
2g.208121882T>ACA350091906CRYGDc.316A>T (p.Thr106Ser)
n.97+2657T>A
gnomAD v4
2g.208121882T>CCA350091907CRYGDc.316A>G (p.Thr106Ala)
n.97+2657T>C
dbSNP
2g.208121882T>GCA350091909CRYGDc.316A>C (p.Thr106Pro)
n.97+2657T>G
2g.208121882T=CA1323927782CRYGDc.316A= (p.Thr106=)
n.97+2657T=
2g.208121883G>ACA430964527CRYGDc.315C>T (p.Phe105=)
n.97+2658G>A
2g.208121883G>CCA350091912CRYGDc.315C>G (p.Phe105Leu)
n.97+2658G>C
2g.208121883G>TCA350091914CRYGDc.315C>A (p.Phe105Leu)
n.97+2658G>T
2g.208121884A=CA1323927783CRYGDc.314T= (p.Phe105=)
n.97+2659A=
2g.208121884A>CCA350091918CRYGDc.314T>G (p.Phe105Cys)
n.97+2659A>C
2g.208121884A>GCA350091921CRYGDc.314T>C (p.Phe105Ser)
n.97+2659A>G
2g.208121884A>TCA350091916CRYGDc.314T>A (p.Phe105Tyr)
n.97+2659A>T
dbSNP
2g.208121885A>CCA350091924CRYGDc.313T>G (p.Phe105Val)
n.97+2660A>C
2g.208121885A>GCA350091926CRYGDc.313T>C (p.Phe105Leu)
n.97+2660A>G
2g.208121885A>TCA350091928CRYGDc.313T>A (p.Phe105Ile)
n.97+2660A>T
2g.208121886C>ACA350091931CRYGDc.312G>T (p.Glu104Asp)
n.97+2661C>A
2g.208121886C>GCA350091933CRYGDc.312G>C (p.Glu104Asp)
n.97+2661C>G
2g.208121886C>TCA430964528CRYGDc.312G>A (p.Glu104=)
n.97+2661C>T
gnomAD v4
2g.208121887T>ACA350091935CRYGDc.311A>T (p.Glu104Val)
n.97+2662T>A
2g.208121887T>CCA2077660CRYGDc.311A>G (p.Glu104Gly)
n.97+2662T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208121887T>GCA350091939CRYGDc.311A>C (p.Glu104Ala)
n.97+2662T>G
2g.208121887T=CA1323927784CRYGDc.311A= (p.Glu104=)
n.97+2662T=
2g.208121888C>ACA350091942CRYGDc.310G>T (p.Glu104Ter)
n.97+2663C>A
2g.208121888C=CA1323927785CRYGDc.310G= (p.Glu104=)
n.97+2663C=
2g.208121888C>GCA2077661CRYGDc.310G>C (p.Glu104Gln)
n.97+2663C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.208121888C>TCA350091946CRYGDc.310G>A (p.Glu104Lys)
n.97+2663C>T
gnomAD v4
2g.208121889T>ACA430964529CRYGDc.309A>T (p.Ile103=)
n.97+2664T>A
2g.208121889T>CCA350091948CRYGDc.309A>G (p.Ile103Met)
n.97+2664T>C
2g.208121889T>GCA430964530CRYGDc.309A>C (p.Ile103=)
n.97+2664T>G
2g.208121889dupCA2586971117CRYGDc.309dup (p.Glu104ArgfsTer4)
n.97+2664dup
2g.208121890A>CCA350091954CRYGDc.308T>G (p.Ile103Arg)
n.97+2665A>C
2g.208121890A>GCA350091955CRYGDc.308T>C (p.Ile103Thr)
n.97+2665A>G
gnomAD v4
2g.208121890A>TCA350091952CRYGDc.308T>A (p.Ile103Lys)
n.97+2665A>T
2g.208121891T>ACA350091959CRYGDc.307A>T (p.Ile103Leu)
n.97+2666T>A
2g.208121891T>CCA350091961CRYGDc.307A>G (p.Ile103Val)
n.97+2666T>C
2g.208121891T>GCA350091963CRYGDc.307A>C (p.Ile103Leu)
n.97+2666T>G
2g.208121892C>ACA350091967CRYGDc.306G>T (p.Met102Ile)
n.97+2667C>A
2g.208121892C=CA1323927786CRYGDc.306G= (p.Met102=)
n.97+2667C=
2g.208121892C>GCA350091968CRYGDc.306G>C (p.Met102Ile)
n.97+2667C>G
2g.208121892C>TCA350091971CRYGDc.306G>A (p.Met102Ile)
n.97+2667C>T
dbSNP
2g.208121893A=CA1323927787CRYGDc.305T= (p.Met102=)
n.97+2668A=
2g.208121893A>CCA350091975CRYGDc.305T>G (p.Met102Arg)
n.97+2668A>C
2g.208121893A>GCA350091979CRYGDc.305T>C (p.Met102Thr)
n.97+2668A>G
dbSNP gnomAD v3 gnomAD v4
2g.208121893A>TCA350091977CRYGDc.305T>A (p.Met102Lys)
n.97+2668A>T
2g.208121894T>ACA350091982CRYGDc.304A>T (p.Met102Leu)
n.97+2669T>A
2g.208121894T>CCA350091984CRYGDc.304A>G (p.Met102Val)
n.97+2669T>C
gnomAD v4
2g.208121894T>GCA350091986CRYGDc.304A>C (p.Met102Leu)
n.97+2669T>G
2g.208121895C>ACA350091989CRYGDc.303G>T (p.Gln101His)
n.97+2670C>A
2g.208121895C=CA1323927788CRYGDc.303G= (p.Gln101=)
n.97+2670C=
2g.208121895C>GCA350091990CRYGDc.303G>C (p.Gln101His)
n.97+2670C>G
2g.208121895C>TCA430964531CRYGDc.303G>A (p.Gln101=)
n.97+2670C>T
dbSNP gnomAD v3 gnomAD v4
2g.208121896T>ACA350091995CRYGDc.302A>T (p.Gln101Leu)
n.97+2671T>A
2g.208121896T>CCA350091997CRYGDc.302A>G (p.Gln101Arg)
n.97+2671T>C
gnomAD v4
2g.208121896T>GCA350091993CRYGDc.302A>C (p.Gln101Pro)
n.97+2671T>G

Number of alleles fetched