Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.15402196G>ACA424868933NBASc.1140C>T
n.3056C>T
c.3043C>T (p.Leu1015=)
c.335C>T
c.184C>T (p.Leu62=)
c.186C>T
n.3087C>T
c.2914C>T (p.Leu972=)
c.2404C>T (p.Leu802=)
c.844C>T (p.Leu282=)
c.835C>T (p.Leu279=)
n.3073C>T
2g.15402196G>CCA345881913NBASc.1140C>G
n.3056C>G
c.3043C>G (p.Leu1015Val)
c.335C>G
c.184C>G (p.Leu62Val)
c.186C>G
n.3087C>G
c.2914C>G (p.Leu972Val)
c.2404C>G (p.Leu802Val)
c.844C>G (p.Leu282Val)
c.835C>G (p.Leu279Val)
n.3073C>G
gnomAD v4
2g.15402196G>TCA345881912NBASc.1140C>A
n.3056C>A
c.3043C>A (p.Leu1015Ile)
c.335C>A
c.184C>A (p.Leu62Ile)
c.186C>A
n.3087C>A
c.2914C>A (p.Leu972Ile)
c.2404C>A (p.Leu802Ile)
c.844C>A (p.Leu282Ile)
c.835C>A (p.Leu279Ile)
n.3073C>A
2g.15402197T>ACA424868934NBASc.1139A>T
n.3055A>T
c.3042A>T (p.Leu1014=)
c.334A>T
c.183A>T (p.Leu61=)
c.185A>T
n.3086A>T
c.2913A>T (p.Leu971=)
c.2403A>T (p.Leu801=)
c.843A>T (p.Leu281=)
c.834A>T (p.Leu278=)
n.3072A>T
2g.15402197T>CCA1536188NBASc.1139A>G
n.3055A>G
c.3042A>G (p.Leu1014=)
c.334A>G
c.183A>G (p.Leu61=)
c.185A>G
n.3086A>G
c.2913A>G (p.Leu971=)
c.2403A>G (p.Leu801=)
c.843A>G (p.Leu281=)
c.834A>G (p.Leu278=)
n.3072A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402197T>GCA424868935NBASc.1139A>C
n.3055A>C
c.3042A>C (p.Leu1014=)
c.334A>C
c.183A>C (p.Leu61=)
c.185A>C
n.3086A>C
c.2913A>C (p.Leu971=)
c.2403A>C (p.Leu801=)
c.843A>C (p.Leu281=)
c.834A>C (p.Leu278=)
n.3072A>C
2g.15402197T=CA2490879597NBASc.1139A=
n.3055A=
c.3042A= (p.Leu1014=)
c.334A=
c.183A= (p.Leu61=)
c.185A=
n.3086A=
c.2913A= (p.Leu971=)
c.2403A= (p.Leu801=)
c.843A= (p.Leu281=)
c.834A= (p.Leu278=)
n.3072A=
2g.15402198A>CCA345881917NBASc.1138T>G
n.3054T>G
c.3041T>G (p.Leu1014Arg)
c.333T>G
c.182T>G (p.Leu61Arg)
c.184T>G
n.3085T>G
c.2912T>G (p.Leu971Arg)
c.2402T>G (p.Leu801Arg)
c.842T>G (p.Leu281Arg)
c.833T>G (p.Leu278Arg)
n.3071T>G
2g.15402198A>GCA345881919NBASc.1138T>C
n.3054T>C
c.3041T>C (p.Leu1014Pro)
c.333T>C
c.182T>C (p.Leu61Pro)
c.184T>C
n.3085T>C
c.2912T>C (p.Leu971Pro)
c.2402T>C (p.Leu801Pro)
c.842T>C (p.Leu281Pro)
c.833T>C (p.Leu278Pro)
n.3071T>C
2g.15402198A>TCA345881921NBASc.1138T>A
n.3054T>A
c.3041T>A (p.Leu1014Gln)
c.333T>A
c.182T>A (p.Leu61Gln)
c.184T>A
n.3085T>A
c.2912T>A (p.Leu971Gln)
c.2402T>A (p.Leu801Gln)
c.842T>A (p.Leu281Gln)
c.833T>A (p.Leu278Gln)
n.3071T>A
2g.15402199G>ACA424868936NBASc.1137C>T
n.3053C>T
c.3040C>T (p.Leu1014=)
c.332C>T
c.181C>T (p.Leu61=)
c.183C>T
n.3084C>T
c.2911C>T (p.Leu971=)
c.2401C>T (p.Leu801=)
c.841C>T (p.Leu281=)
c.832C>T (p.Leu278=)
n.3070C>T
gnomAD v4
2g.15402199G>CCA345881923NBASc.1137C>G
n.3053C>G
c.3040C>G (p.Leu1014Val)
c.332C>G
c.181C>G (p.Leu61Val)
c.183C>G
n.3084C>G
c.2911C>G (p.Leu971Val)
c.2401C>G (p.Leu801Val)
c.841C>G (p.Leu281Val)
c.832C>G (p.Leu278Val)
n.3070C>G
2g.15402199G>TCA345881924NBASc.1137C>A
n.3053C>A
c.3040C>A (p.Leu1014Ile)
c.332C>A
c.181C>A (p.Leu61Ile)
c.183C>A
n.3084C>A
c.2911C>A (p.Leu971Ile)
c.2401C>A (p.Leu801Ile)
c.841C>A (p.Leu281Ile)
c.832C>A (p.Leu278Ile)
n.3070C>A
dbSNP
2g.15402200G>ACA424868937NBASc.1136C>T
n.3052C>T
c.3039C>T (p.Asp1013=)
c.331C>T
c.180C>T (p.Asp60=)
c.182C>T
n.3083C>T
c.2910C>T (p.Asp970=)
c.2400C>T (p.Asp800=)
c.840C>T (p.Asp280=)
c.831C>T (p.Asp277=)
n.3069C>T
2g.15402200G>CCA345881926NBASc.1136C>G
n.3052C>G
c.3039C>G (p.Asp1013Glu)
c.331C>G
c.180C>G (p.Asp60Glu)
c.182C>G
n.3083C>G
c.2910C>G (p.Asp970Glu)
c.2400C>G (p.Asp800Glu)
c.840C>G (p.Asp280Glu)
c.831C>G (p.Asp277Glu)
n.3069C>G
2g.15402200G=CA2490879598NBASc.1136C=
n.3052C=
c.3039C= (p.Asp1013=)
c.331C=
c.180C= (p.Asp60=)
c.182C=
n.3083C=
c.2910C= (p.Asp970=)
c.2400C= (p.Asp800=)
c.840C= (p.Asp280=)
c.831C= (p.Asp277=)
n.3069C=
2g.15402200G>TCA1536189NBASc.1136C>A
n.3052C>A
c.3039C>A (p.Asp1013Glu)
c.331C>A
c.180C>A (p.Asp60Glu)
c.182C>A
n.3083C>A
c.2910C>A (p.Asp970Glu)
c.2400C>A (p.Asp800Glu)
c.840C>A (p.Asp280Glu)
c.831C>A (p.Asp277Glu)
n.3069C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402201T>ACA345881929NBASc.1135A>T
n.3051A>T
c.3038A>T (p.Asp1013Val)
c.330A>T
c.179A>T (p.Asp60Val)
c.181A>T
n.3082A>T
c.2909A>T (p.Asp970Val)
c.2399A>T (p.Asp800Val)
c.839A>T (p.Asp280Val)
c.830A>T (p.Asp277Val)
n.3068A>T
2g.15402201T>CCA345881931NBASc.1135A>G
n.3051A>G
c.3038A>G (p.Asp1013Gly)
c.330A>G
c.179A>G (p.Asp60Gly)
c.181A>G
n.3082A>G
c.2909A>G (p.Asp970Gly)
c.2399A>G (p.Asp800Gly)
c.839A>G (p.Asp280Gly)
c.830A>G (p.Asp277Gly)
n.3068A>G
2g.15402201T>GCA345881933NBASc.1135A>C
n.3051A>C
c.3038A>C (p.Asp1013Ala)
c.330A>C
c.179A>C (p.Asp60Ala)
c.181A>C
n.3082A>C
c.2909A>C (p.Asp970Ala)
c.2399A>C (p.Asp800Ala)
c.839A>C (p.Asp280Ala)
c.830A>C (p.Asp277Ala)
n.3068A>C
2g.15402202C>ACA345881935NBASc.1134G>T
n.3050G>T
c.3037G>T (p.Asp1013Tyr)
c.329G>T
c.178G>T (p.Asp60Tyr)
c.180G>T
n.3081G>T
c.2908G>T (p.Asp970Tyr)
c.2398G>T (p.Asp800Tyr)
c.838G>T (p.Asp280Tyr)
c.829G>T (p.Asp277Tyr)
n.3067G>T
gnomAD v4
2g.15402202C>GCA345881936NBASc.1134G>C
n.3050G>C
c.3037G>C (p.Asp1013His)
c.329G>C
c.178G>C (p.Asp60His)
c.180G>C
n.3081G>C
c.2908G>C (p.Asp970His)
c.2398G>C (p.Asp800His)
c.838G>C (p.Asp280His)
c.829G>C (p.Asp277His)
n.3067G>C
2g.15402202C>TCA345881938NBASc.1134G>A
n.3050G>A
c.3037G>A (p.Asp1013Asn)
c.329G>A
c.178G>A (p.Asp60Asn)
c.180G>A
n.3081G>A
c.2908G>A (p.Asp970Asn)
c.2398G>A (p.Asp800Asn)
c.838G>A (p.Asp280Asn)
c.829G>A (p.Asp277Asn)
n.3067G>A
2g.15402203A>CCA345881940NBASc.1133T>G
n.3049T>G
c.3036T>G (p.Tyr1012Ter)
c.328T>G
c.177T>G (p.Tyr59Ter)
c.179T>G
n.3080T>G
c.2907T>G (p.Tyr969Ter)
c.2397T>G (p.Tyr799Ter)
c.837T>G (p.Tyr279Ter)
c.828T>G (p.Tyr276Ter)
n.3066T>G
2g.15402203A>GCA424868938NBASc.1133T>C
n.3049T>C
c.3036T>C (p.Tyr1012=)
c.328T>C
c.177T>C (p.Tyr59=)
c.179T>C
n.3080T>C
c.2907T>C (p.Tyr969=)
c.2397T>C (p.Tyr799=)
c.837T>C (p.Tyr279=)
c.828T>C (p.Tyr276=)
n.3066T>C
gnomAD v4
2g.15402203A>TCA345881941NBASc.1133T>A
n.3049T>A
c.3036T>A (p.Tyr1012Ter)
c.328T>A
c.177T>A (p.Tyr59Ter)
c.179T>A
n.3080T>A
c.2907T>A (p.Tyr969Ter)
c.2397T>A (p.Tyr799Ter)
c.837T>A (p.Tyr279Ter)
c.828T>A (p.Tyr276Ter)
n.3066T>A
2g.15402204T>ACA345881944NBASc.1132A>T
n.3048A>T
c.3035A>T (p.Tyr1012Phe)
c.327A>T
c.176A>T (p.Tyr59Phe)
c.178A>T
n.3079A>T
c.2906A>T (p.Tyr969Phe)
c.2396A>T (p.Tyr799Phe)
c.836A>T (p.Tyr279Phe)
c.827A>T (p.Tyr276Phe)
n.3065A>T
2g.15402204T>CCA1536190NBASc.1132A>G
n.3048A>G
c.3035A>G (p.Tyr1012Cys)
c.327A>G
c.176A>G (p.Tyr59Cys)
c.178A>G
n.3079A>G
c.2906A>G (p.Tyr969Cys)
c.2396A>G (p.Tyr799Cys)
c.836A>G (p.Tyr279Cys)
c.827A>G (p.Tyr276Cys)
n.3065A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15402204T>GCA345881946NBASc.1132A>C
n.3048A>C
c.3035A>C (p.Tyr1012Ser)
c.327A>C
c.176A>C (p.Tyr59Ser)
c.178A>C
n.3079A>C
c.2906A>C (p.Tyr969Ser)
c.2396A>C (p.Tyr799Ser)
c.836A>C (p.Tyr279Ser)
c.827A>C (p.Tyr276Ser)
n.3065A>C
2g.15402204T=CA2490879599NBASc.1132A=
n.3048A=
c.3035A= (p.Tyr1012=)
c.327A=
c.176A= (p.Tyr59=)
c.178A=
n.3079A=
c.2906A= (p.Tyr969=)
c.2396A= (p.Tyr799=)
c.836A= (p.Tyr279=)
c.827A= (p.Tyr276=)
n.3065A=
2g.15402205A>CCA345881948NBASc.1131T>G
n.3047T>G
c.3034T>G (p.Tyr1012Asp)
c.326T>G
c.175T>G (p.Tyr59Asp)
c.177T>G
n.3078T>G
c.2905T>G (p.Tyr969Asp)
c.2395T>G (p.Tyr799Asp)
c.835T>G (p.Tyr279Asp)
c.826T>G (p.Tyr276Asp)
n.3064T>G
2g.15402205A>GCA345881950NBASc.1131T>C
n.3047T>C
c.3034T>C (p.Tyr1012His)
c.326T>C
c.175T>C (p.Tyr59His)
c.177T>C
n.3078T>C
c.2905T>C (p.Tyr969His)
c.2395T>C (p.Tyr799His)
c.835T>C (p.Tyr279His)
c.826T>C (p.Tyr276His)
n.3064T>C
COSMIC
2g.15402205A>TCA345881951NBASc.1131T>A
n.3047T>A
c.3034T>A (p.Tyr1012Asn)
c.326T>A
c.175T>A (p.Tyr59Asn)
c.177T>A
n.3078T>A
c.2905T>A (p.Tyr969Asn)
c.2395T>A (p.Tyr799Asn)
c.835T>A (p.Tyr279Asn)
c.826T>A (p.Tyr276Asn)
n.3064T>A
2g.15402206G>ACA424868939NBASc.1130C>T
n.3046C>T
c.3033C>T (p.Cys1011=)
c.325C>T
c.174C>T (p.Cys58=)
c.176C>T
n.3077C>T
c.2904C>T (p.Cys968=)
c.2394C>T (p.Cys798=)
c.834C>T (p.Cys278=)
c.825C>T (p.Cys275=)
n.3063C>T
2g.15402206G>CCA345881953NBASc.1130C>G
n.3046C>G
c.3033C>G (p.Cys1011Trp)
c.325C>G
c.174C>G (p.Cys58Trp)
c.176C>G
n.3077C>G
c.2904C>G (p.Cys968Trp)
c.2394C>G (p.Cys798Trp)
c.834C>G (p.Cys278Trp)
c.825C>G (p.Cys275Trp)
n.3063C>G
2g.15402206G>TCA345881954NBASc.1130C>A
n.3046C>A
c.3033C>A (p.Cys1011Ter)
c.325C>A
c.174C>A (p.Cys58Ter)
c.176C>A
n.3077C>A
c.2904C>A (p.Cys968Ter)
c.2394C>A (p.Cys798Ter)
c.834C>A (p.Cys278Ter)
c.825C>A (p.Cys275Ter)
n.3063C>A
2g.15402207C>ACA345881955NBASc.1129G>T
n.3045G>T
c.3032G>T (p.Cys1011Phe)
c.324G>T
c.173G>T (p.Cys58Phe)
c.175G>T
n.3076G>T
c.2903G>T (p.Cys968Phe)
c.2393G>T (p.Cys798Phe)
c.833G>T (p.Cys278Phe)
c.824G>T (p.Cys275Phe)
n.3062G>T
dbSNP gnomAD v3 gnomAD v4
2g.15402207C=CA2490879600NBASc.1129G=
n.3045G=
c.3032G= (p.Cys1011=)
c.324G=
c.173G= (p.Cys58=)
c.175G=
n.3076G=
c.2903G= (p.Cys968=)
c.2393G= (p.Cys798=)
c.833G= (p.Cys278=)
c.824G= (p.Cys275=)
n.3062G=
2g.15402207C>GCA345881957NBASc.1129G>C
n.3045G>C
c.3032G>C (p.Cys1011Ser)
c.324G>C
c.173G>C (p.Cys58Ser)
c.175G>C
n.3076G>C
c.2903G>C (p.Cys968Ser)
c.2393G>C (p.Cys798Ser)
c.833G>C (p.Cys278Ser)
c.824G>C (p.Cys275Ser)
n.3062G>C
2g.15402207C>TCA345881958NBASc.1129G>A
n.3045G>A
c.3032G>A (p.Cys1011Tyr)
c.324G>A
c.173G>A (p.Cys58Tyr)
c.175G>A
n.3076G>A
c.2903G>A (p.Cys968Tyr)
c.2393G>A (p.Cys798Tyr)
c.833G>A (p.Cys278Tyr)
c.824G>A (p.Cys275Tyr)
n.3062G>A
2g.15402208A=CA2490879601NBASc.1128T=
n.3044T=
c.3031T= (p.Cys1011=)
c.323T=
c.172T= (p.Cys58=)
c.174T=
n.3075T=
c.2902T= (p.Cys968=)
c.2392T= (p.Cys798=)
c.832T= (p.Cys278=)
c.823T= (p.Cys275=)
n.3061T=
2g.15402208A>CCA345881959NBASc.1128T>G
n.3044T>G
c.3031T>G (p.Cys1011Gly)
c.323T>G
c.172T>G (p.Cys58Gly)
c.174T>G
n.3075T>G
c.2902T>G (p.Cys968Gly)
c.2392T>G (p.Cys798Gly)
c.832T>G (p.Cys278Gly)
c.823T>G (p.Cys275Gly)
n.3061T>G
2g.15402208A>GCA345881961NBASc.1128T>C
n.3044T>C
c.3031T>C (p.Cys1011Arg)
c.323T>C
c.172T>C (p.Cys58Arg)
c.174T>C
n.3075T>C
c.2902T>C (p.Cys968Arg)
c.2392T>C (p.Cys798Arg)
c.832T>C (p.Cys278Arg)
c.823T>C (p.Cys275Arg)
n.3061T>C
dbSNP gnomAD v2 gnomAD v4
2g.15402208A>TCA345881962NBASc.1128T>A
n.3044T>A
c.3031T>A (p.Cys1011Ser)
c.323T>A
c.172T>A (p.Cys58Ser)
c.174T>A
n.3075T>A
c.2902T>A (p.Cys968Ser)
c.2392T>A (p.Cys798Ser)
c.832T>A (p.Cys278Ser)
c.823T>A (p.Cys275Ser)
n.3061T>A
2g.15402209A=CA2490879602NBASc.1127T=
n.3043T=
c.3030T= (p.Leu1010=)
c.322T=
c.171T= (p.Leu57=)
c.173T=
n.3074T=
c.2901T= (p.Leu967=)
c.2391T= (p.Leu797=)
c.831T= (p.Leu277=)
c.822T= (p.Leu274=)
n.3060T=
2g.15402209A>CCA424868940NBASc.1127T>G
n.3043T>G
c.3030T>G (p.Leu1010=)
c.322T>G
c.171T>G (p.Leu57=)
c.173T>G
n.3074T>G
c.2901T>G (p.Leu967=)
c.2391T>G (p.Leu797=)
c.831T>G (p.Leu277=)
c.822T>G (p.Leu274=)
n.3060T>G
2g.15402209A>GCA424868941NBASc.1127T>C
n.3043T>C
c.3030T>C (p.Leu1010=)
c.322T>C
c.171T>C (p.Leu57=)
c.173T>C
n.3074T>C
c.2901T>C (p.Leu967=)
c.2391T>C (p.Leu797=)
c.831T>C (p.Leu277=)
c.822T>C (p.Leu274=)
n.3060T>C
dbSNP gnomAD v3 gnomAD v4
2g.15402209A>TCA424868942NBASc.1127T>A
n.3043T>A
c.3030T>A (p.Leu1010=)
c.322T>A
c.171T>A (p.Leu57=)
c.173T>A
n.3074T>A
c.2901T>A (p.Leu967=)
c.2391T>A (p.Leu797=)
c.831T>A (p.Leu277=)
c.822T>A (p.Leu274=)
n.3060T>A
2g.15402210A>CCA345881967NBASc.1126T>G
n.3042T>G
c.3029T>G (p.Leu1010Arg)
c.321T>G
c.170T>G (p.Leu57Arg)
c.172T>G
n.3073T>G
c.2900T>G (p.Leu967Arg)
c.2390T>G (p.Leu797Arg)
c.830T>G (p.Leu277Arg)
c.821T>G (p.Leu274Arg)
n.3059T>G
2g.15402210A>GCA345881965NBASc.1126T>C
n.3042T>C
c.3029T>C (p.Leu1010Pro)
c.321T>C
c.170T>C (p.Leu57Pro)
c.172T>C
n.3073T>C
c.2900T>C (p.Leu967Pro)
c.2390T>C (p.Leu797Pro)
c.830T>C (p.Leu277Pro)
c.821T>C (p.Leu274Pro)
n.3059T>C
2g.15402210A>TCA345881964NBASc.1126T>A
n.3042T>A
c.3029T>A (p.Leu1010His)
c.321T>A
c.170T>A (p.Leu57His)
c.172T>A
n.3073T>A
c.2900T>A (p.Leu967His)
c.2390T>A (p.Leu797His)
c.830T>A (p.Leu277His)
c.821T>A (p.Leu274His)
n.3059T>A
2g.15402211G>ACA345881968NBASc.1125C>T
n.3041C>T
c.3028C>T (p.Leu1010Phe)
c.320C>T
c.169C>T (p.Leu57Phe)
c.171C>T
n.3072C>T
c.2899C>T (p.Leu967Phe)
c.2389C>T (p.Leu797Phe)
c.829C>T (p.Leu277Phe)
c.820C>T (p.Leu274Phe)
n.3058C>T
2g.15402211G>CCA345881970NBASc.1125C>G
n.3041C>G
c.3028C>G (p.Leu1010Val)
c.320C>G
c.169C>G (p.Leu57Val)
c.171C>G
n.3072C>G
c.2899C>G (p.Leu967Val)
c.2389C>G (p.Leu797Val)
c.829C>G (p.Leu277Val)
c.820C>G (p.Leu274Val)
n.3058C>G
2g.15402211G>TCA345881972NBASc.1125C>A
n.3041C>A
c.3028C>A (p.Leu1010Ile)
c.320C>A
c.169C>A (p.Leu57Ile)
c.171C>A
n.3072C>A
c.2899C>A (p.Leu967Ile)
c.2389C>A (p.Leu797Ile)
c.829C>A (p.Leu277Ile)
c.820C>A (p.Leu274Ile)
n.3058C>A
2g.15402212A>CCA345881974NBASc.1124T>G
n.3040T>G
c.3027T>G (p.Cys1009Trp)
c.319T>G
c.168T>G (p.Cys56Trp)
c.170T>G
n.3071T>G
c.2898T>G (p.Cys966Trp)
c.2388T>G (p.Cys796Trp)
c.828T>G (p.Cys276Trp)
c.819T>G (p.Cys273Trp)
n.3057T>G
2g.15402212A>GCA424868943NBASc.1124T>C
n.3040T>C
c.3027T>C (p.Cys1009=)
c.319T>C
c.168T>C (p.Cys56=)
c.170T>C
n.3071T>C
c.2898T>C (p.Cys966=)
c.2388T>C (p.Cys796=)
c.828T>C (p.Cys276=)
c.819T>C (p.Cys273=)
n.3057T>C
2g.15402212A>TCA345881975NBASc.1124T>A
n.3040T>A
c.3027T>A (p.Cys1009Ter)
c.319T>A
c.168T>A (p.Cys56Ter)
c.170T>A
n.3071T>A
c.2898T>A (p.Cys966Ter)
c.2388T>A (p.Cys796Ter)
c.828T>A (p.Cys276Ter)
c.819T>A (p.Cys273Ter)
n.3057T>A
2g.15402213C>ACA345881977NBASc.1123G>T
n.3039G>T
c.3026G>T (p.Cys1009Phe)
c.318G>T
c.167G>T (p.Cys56Phe)
c.169G>T
n.3070G>T
c.2897G>T (p.Cys966Phe)
c.2387G>T (p.Cys796Phe)
c.827G>T (p.Cys276Phe)
c.818G>T (p.Cys273Phe)
n.3056G>T
2g.15402213C=CA2490879603NBASc.1123G=
n.3039G=
c.3026G= (p.Cys1009=)
c.318G=
c.167G= (p.Cys56=)
c.169G=
n.3070G=
c.2897G= (p.Cys966=)
c.2387G= (p.Cys796=)
c.827G= (p.Cys276=)
c.818G= (p.Cys273=)
n.3056G=
2g.15402213C>GCA1536191NBASc.1123G>C
n.3039G>C
c.3026G>C (p.Cys1009Ser)
c.318G>C
c.167G>C (p.Cys56Ser)
c.169G>C
n.3070G>C
c.2897G>C (p.Cys966Ser)
c.2387G>C (p.Cys796Ser)
c.827G>C (p.Cys276Ser)
c.818G>C (p.Cys273Ser)
n.3056G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402213C>TCA345881980NBASc.1123G>A
n.3039G>A
c.3026G>A (p.Cys1009Tyr)
c.318G>A
c.167G>A (p.Cys56Tyr)
c.169G>A
n.3070G>A
c.2897G>A (p.Cys966Tyr)
c.2387G>A (p.Cys796Tyr)
c.827G>A (p.Cys276Tyr)
c.818G>A (p.Cys273Tyr)
n.3056G>A
2g.15402214A>CCA345881982NBASc.1122T>G
n.3038T>G
c.3025T>G (p.Cys1009Gly)
c.317T>G
c.166T>G (p.Cys56Gly)
c.168T>G
n.3069T>G
c.2896T>G (p.Cys966Gly)
c.2386T>G (p.Cys796Gly)
c.826T>G (p.Cys276Gly)
c.817T>G (p.Cys273Gly)
n.3055T>G
2g.15402214A>GCA345881988NBASc.1122T>C
n.3038T>C
c.3025T>C (p.Cys1009Arg)
c.317T>C
c.166T>C (p.Cys56Arg)
c.168T>C
n.3069T>C
c.2896T>C (p.Cys966Arg)
c.2386T>C (p.Cys796Arg)
c.826T>C (p.Cys276Arg)
c.817T>C (p.Cys273Arg)
n.3055T>C
2g.15402214A>TCA345881990NBASc.1122T>A
n.3038T>A
c.3025T>A (p.Cys1009Ser)
c.317T>A
c.166T>A (p.Cys56Ser)
c.168T>A
n.3069T>A
c.2896T>A (p.Cys966Ser)
c.2386T>A (p.Cys796Ser)
c.826T>A (p.Cys276Ser)
c.817T>A (p.Cys273Ser)
n.3055T>A
2g.15402216_15402217delCA2698761892NBASc.1121_1122del
n.3037_3038del
c.3024_3025del (p.Cys1009SerfsTer4)
c.316_317del
c.165_166del (p.Cys56SerfsTer4)
c.167_168del
n.3068_3069del
c.2895_2896del (p.Cys966SerfsTer4)
c.2385_2386del (p.Cys796SerfsTer4)
c.825_826del (p.Cys276SerfsTer4)
c.816_817del (p.Cys273SerfsTer4)
n.3054_3055del
dbSNP
2g.15402215G>ACA424868944NBASc.1121C>T
n.3037C>T
c.3024C>T (p.Leu1008=)
c.316C>T
c.165C>T (p.Leu55=)
c.167C>T
n.3068C>T
c.2895C>T (p.Leu965=)
c.2385C>T (p.Leu795=)
c.825C>T (p.Leu275=)
c.816C>T (p.Leu272=)
n.3054C>T
ClinVar
2g.15402215G>CCA424868945NBASc.1121C>G
n.3037C>G
c.3024C>G (p.Leu1008=)
c.316C>G
c.165C>G (p.Leu55=)
c.167C>G
n.3068C>G
c.2895C>G (p.Leu965=)
c.2385C>G (p.Leu795=)
c.825C>G (p.Leu275=)
c.816C>G (p.Leu272=)
n.3054C>G
2g.15402215G>TCA424868946NBASc.1121C>A
n.3037C>A
c.3024C>A (p.Leu1008=)
c.316C>A
c.165C>A (p.Leu55=)
c.167C>A
n.3068C>A
c.2895C>A (p.Leu965=)
c.2385C>A (p.Leu795=)
c.825C>A (p.Leu275=)
c.816C>A (p.Leu272=)
n.3054C>A
2g.15402216A>CCA345881997NBASc.1120T>G
n.3036T>G
c.3023T>G (p.Leu1008Arg)
c.315T>G
c.164T>G (p.Leu55Arg)
c.166T>G
n.3067T>G
c.2894T>G (p.Leu965Arg)
c.2384T>G (p.Leu795Arg)
c.824T>G (p.Leu275Arg)
c.815T>G (p.Leu272Arg)
n.3053T>G
2g.15402216A>GCA345881995NBASc.1120T>C
n.3036T>C
c.3023T>C (p.Leu1008Pro)
c.315T>C
c.164T>C (p.Leu55Pro)
c.166T>C
n.3067T>C
c.2894T>C (p.Leu965Pro)
c.2384T>C (p.Leu795Pro)
c.824T>C (p.Leu275Pro)
c.815T>C (p.Leu272Pro)
n.3053T>C
2g.15402216A>TCA345881993NBASc.1120T>A
n.3036T>A
c.3023T>A (p.Leu1008His)
c.315T>A
c.164T>A (p.Leu55His)
c.166T>A
n.3067T>A
c.2894T>A (p.Leu965His)
c.2384T>A (p.Leu795His)
c.824T>A (p.Leu275His)
c.815T>A (p.Leu272His)
n.3053T>A
2g.15402217G>ACA345881998NBASc.1119C>T
n.3035C>T
c.3022C>T (p.Leu1008Phe)
c.314C>T
c.163C>T (p.Leu55Phe)
c.165C>T
n.3066C>T
c.2893C>T (p.Leu965Phe)
c.2383C>T (p.Leu795Phe)
c.823C>T (p.Leu275Phe)
c.814C>T (p.Leu272Phe)
n.3052C>T
2g.15402217G>CCA345881999NBASc.1119C>G
n.3035C>G
c.3022C>G (p.Leu1008Val)
c.314C>G
c.163C>G (p.Leu55Val)
c.165C>G
n.3066C>G
c.2893C>G (p.Leu965Val)
c.2383C>G (p.Leu795Val)
c.823C>G (p.Leu275Val)
c.814C>G (p.Leu272Val)
n.3052C>G
gnomAD v4
2g.15402217G>TCA345882000NBASc.1119C>A
n.3035C>A
c.3022C>A (p.Leu1008Ile)
c.314C>A
c.163C>A (p.Leu55Ile)
c.165C>A
n.3066C>A
c.2893C>A (p.Leu965Ile)
c.2383C>A (p.Leu795Ile)
c.823C>A (p.Leu275Ile)
c.814C>A (p.Leu272Ile)
n.3052C>A
2g.15402218T>ACA345882001NBASc.1118A>T
n.3034A>T
c.3021A>T (p.Gln1007His)
c.313A>T
c.162A>T (p.Gln54His)
c.164A>T
n.3065A>T
c.2892A>T (p.Gln964His)
c.2382A>T (p.Gln794His)
c.822A>T (p.Gln274His)
c.813A>T (p.Gln271His)
n.3051A>T
2g.15402218T>CCA424868947NBASc.1118A>G
n.3034A>G
c.3021A>G (p.Gln1007=)
c.313A>G
c.162A>G (p.Gln54=)
c.164A>G
n.3065A>G
c.2892A>G (p.Gln964=)
c.2382A>G (p.Gln794=)
c.822A>G (p.Gln274=)
c.813A>G (p.Gln271=)
n.3051A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15402218T>GCA345882003NBASc.1118A>C
n.3034A>C
c.3021A>C (p.Gln1007His)
c.313A>C
c.162A>C (p.Gln54His)
c.164A>C
n.3065A>C
c.2892A>C (p.Gln964His)
c.2382A>C (p.Gln794His)
c.822A>C (p.Gln274His)
c.813A>C (p.Gln271His)
n.3051A>C
2g.15402218T=CA2490879604NBASc.1118A=
n.3034A=
c.3021A= (p.Gln1007=)
c.313A=
c.162A= (p.Gln54=)
c.164A=
n.3065A=
c.2892A= (p.Gln964=)
c.2382A= (p.Gln794=)
c.822A= (p.Gln274=)
c.813A= (p.Gln271=)
n.3051A=
2g.15402219T>ACA345882005NBASc.1117A>T
n.3033A>T
c.3020A>T (p.Gln1007Leu)
c.312A>T
c.161A>T (p.Gln54Leu)
c.163A>T
n.3064A>T
c.2891A>T (p.Gln964Leu)
c.2381A>T (p.Gln794Leu)
c.821A>T (p.Gln274Leu)
c.812A>T (p.Gln271Leu)
n.3050A>T
2g.15402219T>CCA345882006NBASc.1117A>G
n.3033A>G
c.3020A>G (p.Gln1007Arg)
c.312A>G
c.161A>G (p.Gln54Arg)
c.163A>G
n.3064A>G
c.2891A>G (p.Gln964Arg)
c.2381A>G (p.Gln794Arg)
c.821A>G (p.Gln274Arg)
c.812A>G (p.Gln271Arg)
n.3050A>G
gnomAD v4
2g.15402219T>GCA345882008NBASc.1117A>C
n.3033A>C
c.3020A>C (p.Gln1007Pro)
c.312A>C
c.161A>C (p.Gln54Pro)
c.163A>C
n.3064A>C
c.2891A>C (p.Gln964Pro)
c.2381A>C (p.Gln794Pro)
c.821A>C (p.Gln274Pro)
c.812A>C (p.Gln271Pro)
n.3050A>C
2g.15402220delCA2576680855NBASc.1116del
n.3032del
c.3019del (p.Gln1007AsnfsTer9)
c.311del
c.160del (p.Gln54AsnfsTer9)
c.162del
n.3063del
c.2890del (p.Gln964AsnfsTer9)
c.2380del (p.Gln794AsnfsTer9)
c.820del (p.Gln274AsnfsTer9)
c.811del (p.Gln271AsnfsTer9)
n.3049del
2g.15402220G>ACA345882009NBASc.1116C>T
n.3032C>T
c.3019C>T (p.Gln1007Ter)
c.311C>T
c.160C>T (p.Gln54Ter)
c.162C>T
n.3063C>T
c.2890C>T (p.Gln964Ter)
c.2380C>T (p.Gln794Ter)
c.820C>T (p.Gln274Ter)
c.811C>T (p.Gln271Ter)
n.3049C>T
gnomAD v4 COSMIC
2g.15402220G>CCA345882010NBASc.1116C>G
n.3032C>G
c.3019C>G (p.Gln1007Glu)
c.311C>G
c.160C>G (p.Gln54Glu)
c.162C>G
n.3063C>G
c.2890C>G (p.Gln964Glu)
c.2380C>G (p.Gln794Glu)
c.820C>G (p.Gln274Glu)
c.811C>G (p.Gln271Glu)
n.3049C>G
2g.15402220G>TCA345882011NBASc.1116C>A
n.3032C>A
c.3019C>A (p.Gln1007Lys)
c.311C>A
c.160C>A (p.Gln54Lys)
c.162C>A
n.3063C>A
c.2890C>A (p.Gln964Lys)
c.2380C>A (p.Gln794Lys)
c.820C>A (p.Gln274Lys)
c.811C>A (p.Gln271Lys)
n.3049C>A
gnomAD v4
2g.15402221A>CCA345882012NBASc.1115T>G
n.3031T>G
c.3018T>G (p.Asp1006Glu)
c.310T>G
c.159T>G (p.Asp53Glu)
c.161T>G
n.3062T>G
c.2889T>G (p.Asp963Glu)
c.2379T>G (p.Asp793Glu)
c.819T>G (p.Asp273Glu)
c.810T>G (p.Asp270Glu)
n.3048T>G
gnomAD v4
2g.15402221A>GCA424868948NBASc.1115T>C
n.3031T>C
c.3018T>C (p.Asp1006=)
c.310T>C
c.159T>C (p.Asp53=)
c.161T>C
n.3062T>C
c.2889T>C (p.Asp963=)
c.2379T>C (p.Asp793=)
c.819T>C (p.Asp273=)
c.810T>C (p.Asp270=)
n.3048T>C
gnomAD v4
2g.15402221A>TCA345882013NBASc.1115T>A
n.3031T>A
c.3018T>A (p.Asp1006Glu)
c.310T>A
c.159T>A (p.Asp53Glu)
c.161T>A
n.3062T>A
c.2889T>A (p.Asp963Glu)
c.2379T>A (p.Asp793Glu)
c.819T>A (p.Asp273Glu)
c.810T>A (p.Asp270Glu)
n.3048T>A
2g.15402222T>ACA1536192NBASc.1114A>T
n.3030A>T
c.3017A>T (p.Asp1006Val)
c.309A>T
c.158A>T (p.Asp53Val)
c.160A>T
n.3061A>T
c.2888A>T (p.Asp963Val)
c.2378A>T (p.Asp793Val)
c.818A>T (p.Asp273Val)
c.809A>T (p.Asp270Val)
n.3047A>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.15402222T>CCA345882015NBASc.1114A>G
n.3030A>G
c.3017A>G (p.Asp1006Gly)
c.309A>G
c.158A>G (p.Asp53Gly)
c.160A>G
n.3061A>G
c.2888A>G (p.Asp963Gly)
c.2378A>G (p.Asp793Gly)
c.818A>G (p.Asp273Gly)
c.809A>G (p.Asp270Gly)
n.3047A>G
2g.15402222T>GCA345882017NBASc.1114A>C
n.3030A>C
c.3017A>C (p.Asp1006Ala)
c.309A>C
c.158A>C (p.Asp53Ala)
c.160A>C
n.3061A>C
c.2888A>C (p.Asp963Ala)
c.2378A>C (p.Asp793Ala)
c.818A>C (p.Asp273Ala)
c.809A>C (p.Asp270Ala)
n.3047A>C
2g.15402222T=CA2490879605NBASc.1114A=
n.3030A=
c.3017A= (p.Asp1006=)
c.309A=
c.158A= (p.Asp53=)
c.160A=
n.3061A=
c.2888A= (p.Asp963=)
c.2378A= (p.Asp793=)
c.818A= (p.Asp273=)
c.809A= (p.Asp270=)
n.3047A=
2g.15402223C>ACA345882020NBASc.1113G>T
n.3029G>T
c.3016G>T (p.Asp1006Tyr)
c.308G>T
c.157G>T (p.Asp53Tyr)
c.159G>T
n.3060G>T
c.2887G>T (p.Asp963Tyr)
c.2377G>T (p.Asp793Tyr)
c.817G>T (p.Asp273Tyr)
c.808G>T (p.Asp270Tyr)
n.3046G>T
gnomAD v4
2g.15402223C>GCA345882022NBASc.1113G>C
n.3029G>C
c.3016G>C (p.Asp1006His)
c.308G>C
c.157G>C (p.Asp53His)
c.159G>C
n.3060G>C
c.2887G>C (p.Asp963His)
c.2377G>C (p.Asp793His)
c.817G>C (p.Asp273His)
c.808G>C (p.Asp270His)
n.3046G>C
2g.15402223C>TCA345882024NBASc.1113G>A
n.3029G>A
c.3016G>A (p.Asp1006Asn)
c.308G>A
c.157G>A (p.Asp53Asn)
c.159G>A
n.3060G>A
c.2887G>A (p.Asp963Asn)
c.2377G>A (p.Asp793Asn)
c.817G>A (p.Asp273Asn)
c.808G>A (p.Asp270Asn)
n.3046G>A
2g.15402224A>CCA345882027NBASc.1112T>G
n.3028T>G
c.3015T>G (p.Asn1005Lys)
c.307T>G
c.156T>G (p.Asn52Lys)
c.158T>G
n.3059T>G
c.2886T>G (p.Asn962Lys)
c.2376T>G (p.Asn792Lys)
c.816T>G (p.Asn272Lys)
c.807T>G (p.Asn269Lys)
n.3045T>G
gnomAD v4
2g.15402224A>GCA424868949NBASc.1112T>C
n.3028T>C
c.3015T>C (p.Asn1005=)
c.307T>C
c.156T>C (p.Asn52=)
c.158T>C
n.3059T>C
c.2886T>C (p.Asn962=)
c.2376T>C (p.Asn792=)
c.816T>C (p.Asn272=)
c.807T>C (p.Asn269=)
n.3045T>C
gnomAD v4
2g.15402224A>TCA345882028NBASc.1112T>A
n.3028T>A
c.3015T>A (p.Asn1005Lys)
c.307T>A
c.156T>A (p.Asn52Lys)
c.158T>A
n.3059T>A
c.2886T>A (p.Asn962Lys)
c.2376T>A (p.Asn792Lys)
c.816T>A (p.Asn272Lys)
c.807T>A (p.Asn269Lys)
n.3045T>A
2g.15402225T>ACA345882030NBASc.1111A>T
n.3027A>T
c.3014A>T (p.Asn1005Ile)
c.306A>T
c.155A>T (p.Asn52Ile)
c.157A>T
n.3058A>T
c.2885A>T (p.Asn962Ile)
c.2375A>T (p.Asn792Ile)
c.815A>T (p.Asn272Ile)
c.806A>T (p.Asn269Ile)
n.3044A>T
gnomAD v4
2g.15402225T>CCA42621728NBASc.1111A>G
n.3027A>G
c.3014A>G (p.Asn1005Ser)
c.306A>G
c.155A>G (p.Asn52Ser)
c.157A>G
n.3058A>G
c.2885A>G (p.Asn962Ser)
c.2375A>G (p.Asn792Ser)
c.815A>G (p.Asn272Ser)
c.806A>G (p.Asn269Ser)
n.3044A>G
dbSNP
2g.15402225T>GCA345882032NBASc.1111A>C
n.3027A>C
c.3014A>C (p.Asn1005Thr)
c.306A>C
c.155A>C (p.Asn52Thr)
c.157A>C
n.3058A>C
c.2885A>C (p.Asn962Thr)
c.2375A>C (p.Asn792Thr)
c.815A>C (p.Asn272Thr)
c.806A>C (p.Asn269Thr)
n.3044A>C
2g.15402225T=CA2490879606NBASc.1111A=
n.3027A=
c.3014A= (p.Asn1005=)
c.306A=
c.155A= (p.Asn52=)
c.157A=
n.3058A=
c.2885A= (p.Asn962=)
c.2375A= (p.Asn792=)
c.815A= (p.Asn272=)
c.806A= (p.Asn269=)
n.3044A=
2g.15402226T>ACA345882034NBASc.1110A>T
n.3026A>T
c.3013A>T (p.Asn1005Tyr)
c.305A>T
c.154A>T (p.Asn52Tyr)
c.156A>T
n.3057A>T
c.2884A>T (p.Asn962Tyr)
c.2374A>T (p.Asn792Tyr)
c.814A>T (p.Asn272Tyr)
c.805A>T (p.Asn269Tyr)
n.3043A>T
2g.15402226T>CCA345882039NBASc.1110A>G
n.3026A>G
c.3013A>G (p.Asn1005Asp)
c.305A>G
c.154A>G (p.Asn52Asp)
c.156A>G
n.3057A>G
c.2884A>G (p.Asn962Asp)
c.2374A>G (p.Asn792Asp)
c.814A>G (p.Asn272Asp)
c.805A>G (p.Asn269Asp)
n.3043A>G
2g.15402226T>GCA345882042NBASc.1110A>C
n.3026A>C
c.3013A>C (p.Asn1005His)
c.305A>C
c.154A>C (p.Asn52His)
c.156A>C
n.3057A>C
c.2884A>C (p.Asn962His)
c.2374A>C (p.Asn792His)
c.814A>C (p.Asn272His)
c.805A>C (p.Asn269His)
n.3043A>C
2g.15402227T>ACA424868950NBASc.1109A>T
n.3025A>T
c.3012A>T (p.Arg1004=)
c.304A>T
c.153A>T (p.Arg51=)
c.155A>T
n.3056A>T
c.2883A>T (p.Arg961=)
c.2373A>T (p.Arg791=)
c.813A>T (p.Arg271=)
c.804A>T (p.Arg268=)
n.3042A>T
2g.15402227T>CCA424868952NBASc.1109A>G
n.3025A>G
c.3012A>G (p.Arg1004=)
c.304A>G
c.153A>G (p.Arg51=)
c.155A>G
n.3056A>G
c.2883A>G (p.Arg961=)
c.2373A>G (p.Arg791=)
c.813A>G (p.Arg271=)
c.804A>G (p.Arg268=)
n.3042A>G
2g.15402227T>GCA424868951NBASc.1109A>C
n.3025A>C
c.3012A>C (p.Arg1004=)
c.304A>C
c.153A>C (p.Arg51=)
c.155A>C
n.3056A>C
c.2883A>C (p.Arg961=)
c.2373A>C (p.Arg791=)
c.813A>C (p.Arg271=)
c.804A>C (p.Arg268=)
n.3042A>C
ClinVar dbSNP gnomAD v4
2g.15402228C>ACA345882046NBASc.1108G>T
n.3024G>T
c.3011G>T (p.Arg1004Leu)
c.303G>T
c.152G>T (p.Arg51Leu)
c.154G>T
n.3055G>T
c.2882G>T (p.Arg961Leu)
c.2372G>T (p.Arg791Leu)
c.812G>T (p.Arg271Leu)
c.803G>T (p.Arg268Leu)
n.3041G>T
2g.15402228C=CA2490879607NBASc.1108G=
n.3024G=
c.3011G= (p.Arg1004=)
c.303G=
c.152G= (p.Arg51=)
c.154G=
n.3055G=
c.2882G= (p.Arg961=)
c.2372G= (p.Arg791=)
c.812G= (p.Arg271=)
c.803G= (p.Arg268=)
n.3041G=
2g.15402228C>GCA345882044NBASc.1108G>C
n.3024G>C
c.3011G>C (p.Arg1004Pro)
c.303G>C
c.152G>C (p.Arg51Pro)
c.154G>C
n.3055G>C
c.2882G>C (p.Arg961Pro)
c.2372G>C (p.Arg791Pro)
c.812G>C (p.Arg271Pro)
c.803G>C (p.Arg268Pro)
n.3041G>C
2g.15402228C>TCA1536193NBASc.1108G>A
n.3024G>A
c.3011G>A (p.Arg1004Gln)
c.303G>A
c.152G>A (p.Arg51Gln)
c.154G>A
n.3055G>A
c.2882G>A (p.Arg961Gln)
c.2372G>A (p.Arg791Gln)
c.812G>A (p.Arg271Gln)
c.803G>A (p.Arg268Gln)
n.3041G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402229G>ACA1536194NBASc.1107C>T
n.3023C>T
c.3010C>T (p.Arg1004Ter)
c.302C>T
c.151C>T (p.Arg51Ter)
c.153C>T
n.3054C>T
c.2881C>T (p.Arg961Ter)
c.2371C>T (p.Arg791Ter)
c.811C>T (p.Arg271Ter)
c.802C>T (p.Arg268Ter)
n.3040C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402229G>CCA345882048NBASc.1107C>G
n.3023C>G
c.3010C>G (p.Arg1004Gly)
c.302C>G
c.151C>G (p.Arg51Gly)
c.153C>G
n.3054C>G
c.2881C>G (p.Arg961Gly)
c.2371C>G (p.Arg791Gly)
c.811C>G (p.Arg271Gly)
c.802C>G (p.Arg268Gly)
n.3040C>G
dbSNP gnomAD v4
2g.15402229G=CA2490879608NBASc.1107C=
n.3023C=
c.3010C= (p.Arg1004=)
c.302C=
c.151C= (p.Arg51=)
c.153C=
n.3054C=
c.2881C= (p.Arg961=)
c.2371C= (p.Arg791=)
c.811C= (p.Arg271=)
c.802C= (p.Arg268=)
n.3040C=
2g.15402229G>TCA424868953NBASc.1107C>A
n.3023C>A
c.3010C>A (p.Arg1004=)
c.302C>A
c.151C>A (p.Arg51=)
c.153C>A
n.3054C>A
c.2881C>A (p.Arg961=)
c.2371C>A (p.Arg791=)
c.811C>A (p.Arg271=)
c.802C>A (p.Arg268=)
n.3040C>A
2g.15402230T>ACA345882050NBASc.1106A>T
n.3022A>T
c.3009A>T (p.Glu1003Asp)
c.301A>T
c.150A>T (p.Glu50Asp)
c.152A>T
n.3053A>T
c.2880A>T (p.Glu960Asp)
c.2370A>T (p.Glu790Asp)
c.810A>T (p.Glu270Asp)
c.801A>T (p.Glu267Asp)
n.3039A>T
2g.15402230T>CCA424868954NBASc.1106A>G
n.3022A>G
c.3009A>G (p.Glu1003=)
c.301A>G
c.150A>G (p.Glu50=)
c.152A>G
n.3053A>G
c.2880A>G (p.Glu960=)
c.2370A>G (p.Glu790=)
c.810A>G (p.Glu270=)
c.801A>G (p.Glu267=)
n.3039A>G
ClinVar gnomAD v4
2g.15402230T>GCA345882052NBASc.1106A>C
n.3022A>C
c.3009A>C (p.Glu1003Asp)
c.301A>C
c.150A>C (p.Glu50Asp)
c.152A>C
n.3053A>C
c.2880A>C (p.Glu960Asp)
c.2370A>C (p.Glu790Asp)
c.810A>C (p.Glu270Asp)
c.801A>C (p.Glu267Asp)
n.3039A>C
2g.15402231T>ACA345882053NBASc.1105A>T
n.3021A>T
c.3008A>T (p.Glu1003Val)
c.300A>T
c.149A>T (p.Glu50Val)
c.151A>T
n.3052A>T
c.2879A>T (p.Glu960Val)
c.2369A>T (p.Glu790Val)
c.809A>T (p.Glu270Val)
c.800A>T (p.Glu267Val)
n.3038A>T
2g.15402231T>CCA345882055NBASc.1105A>G
n.3021A>G
c.3008A>G (p.Glu1003Gly)
c.300A>G
c.149A>G (p.Glu50Gly)
c.151A>G
n.3052A>G
c.2879A>G (p.Glu960Gly)
c.2369A>G (p.Glu790Gly)
c.809A>G (p.Glu270Gly)
c.800A>G (p.Glu267Gly)
n.3038A>G
2g.15402231T>GCA345882057NBASc.1105A>C
n.3021A>C
c.3008A>C (p.Glu1003Ala)
c.300A>C
c.149A>C (p.Glu50Ala)
c.151A>C
n.3052A>C
c.2879A>C (p.Glu960Ala)
c.2369A>C (p.Glu790Ala)
c.809A>C (p.Glu270Ala)
c.800A>C (p.Glu267Ala)
n.3038A>C
2g.15402232C>ACA345882058NBASc.1104G>T
n.3020G>T
c.3007G>T (p.Glu1003Ter)
c.299G>T
c.148G>T (p.Glu50Ter)
c.150G>T
n.3051G>T
c.2878G>T (p.Glu960Ter)
c.2368G>T (p.Glu790Ter)
c.808G>T (p.Glu270Ter)
c.799G>T (p.Glu267Ter)
n.3037G>T
2g.15402232C>GCA345882059NBASc.1104G>C
n.3020G>C
c.3007G>C (p.Glu1003Gln)
c.299G>C
c.148G>C (p.Glu50Gln)
c.150G>C
n.3051G>C
c.2878G>C (p.Glu960Gln)
c.2368G>C (p.Glu790Gln)
c.808G>C (p.Glu270Gln)
c.799G>C (p.Glu267Gln)
n.3037G>C
2g.15402232C>TCA345882060NBASc.1104G>A
n.3020G>A
c.3007G>A (p.Glu1003Lys)
c.299G>A
c.148G>A (p.Glu50Lys)
c.150G>A
n.3051G>A
c.2878G>A (p.Glu960Lys)
c.2368G>A (p.Glu790Lys)
c.808G>A (p.Glu270Lys)
c.799G>A (p.Glu267Lys)
n.3037G>A
2g.15402233A=CA2490879609NBASc.1103T=
n.3019T=
c.3006T= (p.Cys1002=)
c.298T=
c.147T= (p.Cys49=)
c.149T=
n.3050T=
c.2877T= (p.Cys959=)
c.2367T= (p.Cys789=)
c.807T= (p.Cys269=)
c.798T= (p.Cys266=)
n.3036T=
2g.15402233A>CCA345882065NBASc.1103T>G
n.3019T>G
c.3006T>G (p.Cys1002Trp)
c.298T>G
c.147T>G (p.Cys49Trp)
c.149T>G
n.3050T>G
c.2877T>G (p.Cys959Trp)
c.2367T>G (p.Cys789Trp)
c.807T>G (p.Cys269Trp)
c.798T>G (p.Cys266Trp)
n.3036T>G
2g.15402233A>GCA1536195NBASc.1103T>C
n.3019T>C
c.3006T>C (p.Cys1002=)
c.298T>C
c.147T>C (p.Cys49=)
c.149T>C
n.3050T>C
c.2877T>C (p.Cys959=)
c.2367T>C (p.Cys789=)
c.807T>C (p.Cys269=)
c.798T>C (p.Cys266=)
n.3036T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.15402233A>TCA345882068NBASc.1103T>A
n.3019T>A
c.3006T>A (p.Cys1002Ter)
c.298T>A
c.147T>A (p.Cys49Ter)
c.149T>A
n.3050T>A
c.2877T>A (p.Cys959Ter)
c.2367T>A (p.Cys789Ter)
c.807T>A (p.Cys269Ter)
c.798T>A (p.Cys266Ter)
n.3036T>A
2g.15402234C>ACA345882070NBASc.1102G>T
n.3018G>T
c.3005G>T (p.Cys1002Phe)
c.297G>T
c.146G>T (p.Cys49Phe)
c.148G>T
n.3049G>T
c.2876G>T (p.Cys959Phe)
c.2366G>T (p.Cys789Phe)
c.806G>T (p.Cys269Phe)
c.797G>T (p.Cys266Phe)
n.3035G>T
2g.15402234C>GCA345882072NBASc.1102G>C
n.3018G>C
c.3005G>C (p.Cys1002Ser)
c.297G>C
c.146G>C (p.Cys49Ser)
c.148G>C
n.3049G>C
c.2876G>C (p.Cys959Ser)
c.2366G>C (p.Cys789Ser)
c.806G>C (p.Cys269Ser)
c.797G>C (p.Cys266Ser)
n.3035G>C
2g.15402234C>TCA345882077NBASc.1102G>A
n.3018G>A
c.3005G>A (p.Cys1002Tyr)
c.297G>A
c.146G>A (p.Cys49Tyr)
c.148G>A
n.3049G>A
c.2876G>A (p.Cys959Tyr)
c.2366G>A (p.Cys789Tyr)
c.806G>A (p.Cys269Tyr)
c.797G>A (p.Cys266Tyr)
n.3035G>A
gnomAD v4
2g.15402235A>CCA345882082NBASc.1101T>G
n.3017T>G
c.3004T>G (p.Cys1002Gly)
c.296T>G
c.145T>G (p.Cys49Gly)
c.147T>G
n.3048T>G
c.2875T>G (p.Cys959Gly)
c.2365T>G (p.Cys789Gly)
c.805T>G (p.Cys269Gly)
c.796T>G (p.Cys266Gly)
n.3034T>G
2g.15402235A>GCA345882079NBASc.1101T>C
n.3017T>C
c.3004T>C (p.Cys1002Arg)
c.296T>C
c.145T>C (p.Cys49Arg)
c.147T>C
n.3048T>C
c.2875T>C (p.Cys959Arg)
c.2365T>C (p.Cys789Arg)
c.805T>C (p.Cys269Arg)
c.796T>C (p.Cys266Arg)
n.3034T>C
2g.15402235A>TCA345882080NBASc.1101T>A
n.3017T>A
c.3004T>A (p.Cys1002Ser)
c.296T>A
c.145T>A (p.Cys49Ser)
c.147T>A
n.3048T>A
c.2875T>A (p.Cys959Ser)
c.2365T>A (p.Cys789Ser)
c.805T>A (p.Cys269Ser)
c.796T>A (p.Cys266Ser)
n.3034T>A
2g.15402236G>ACA424868955NBASc.1100C>T
n.3016C>T
c.3003C>T (p.Thr1001=)
c.295C>T
c.144C>T (p.Thr48=)
c.146C>T
n.3047C>T
c.2874C>T (p.Thr958=)
c.2364C>T (p.Thr788=)
c.804C>T (p.Thr268=)
c.795C>T (p.Thr265=)
n.3033C>T
2g.15402236G>CCA424868956NBASc.1100C>G
n.3016C>G
c.3003C>G (p.Thr1001=)
c.295C>G
c.144C>G (p.Thr48=)
c.146C>G
n.3047C>G
c.2874C>G (p.Thr958=)
c.2364C>G (p.Thr788=)
c.804C>G (p.Thr268=)
c.795C>G (p.Thr265=)
n.3033C>G
2g.15402236G>TCA424868957NBASc.1100C>A
n.3016C>A
c.3003C>A (p.Thr1001=)
c.295C>A
c.144C>A (p.Thr48=)
c.146C>A
n.3047C>A
c.2874C>A (p.Thr958=)
c.2364C>A (p.Thr788=)
c.804C>A (p.Thr268=)
c.795C>A (p.Thr265=)
n.3033C>A
2g.15402237G>ACA345882083NBASc.1099C>T
n.3015C>T
c.3002C>T (p.Thr1001Ile)
c.294C>T
c.143C>T (p.Thr48Ile)
c.145C>T
n.3046C>T
c.2873C>T (p.Thr958Ile)
c.2363C>T (p.Thr788Ile)
c.803C>T (p.Thr268Ile)
c.794C>T (p.Thr265Ile)
n.3032C>T
dbSNP gnomAD v2 gnomAD v4
2g.15402237G>CCA345882085NBASc.1099C>G
n.3015C>G
c.3002C>G (p.Thr1001Ser)
c.294C>G
c.143C>G (p.Thr48Ser)
c.145C>G
n.3046C>G
c.2873C>G (p.Thr958Ser)
c.2363C>G (p.Thr788Ser)
c.803C>G (p.Thr268Ser)
c.794C>G (p.Thr265Ser)
n.3032C>G
2g.15402237G=CA2490879610NBASc.1099C=
n.3015C=
c.3002C= (p.Thr1001=)
c.294C=
c.143C= (p.Thr48=)
c.145C=
n.3046C=
c.2873C= (p.Thr958=)
c.2363C= (p.Thr788=)
c.803C= (p.Thr268=)
c.794C= (p.Thr265=)
n.3032C=
2g.15402237G>TCA345882090NBASc.1099C>A
n.3015C>A
c.3002C>A (p.Thr1001Asn)
c.294C>A
c.143C>A (p.Thr48Asn)
c.145C>A
n.3046C>A
c.2873C>A (p.Thr958Asn)
c.2363C>A (p.Thr788Asn)
c.803C>A (p.Thr268Asn)
c.794C>A (p.Thr265Asn)
n.3032C>A
2g.15402238T>ACA345882093NBASc.1098A>T
n.3014A>T
c.3001A>T (p.Thr1001Ser)
c.293A>T
c.142A>T (p.Thr48Ser)
c.144A>T
n.3045A>T
c.2872A>T (p.Thr958Ser)
c.2362A>T (p.Thr788Ser)
c.802A>T (p.Thr268Ser)
c.793A>T (p.Thr265Ser)
n.3031A>T
2g.15402238T>CCA345882094NBASc.1098A>G
n.3014A>G
c.3001A>G (p.Thr1001Ala)
c.293A>G
c.142A>G (p.Thr48Ala)
c.144A>G
n.3045A>G
c.2872A>G (p.Thr958Ala)
c.2362A>G (p.Thr788Ala)
c.802A>G (p.Thr268Ala)
c.793A>G (p.Thr265Ala)
n.3031A>G
gnomAD v4
2g.15402238T>GCA345882095NBASc.1098A>C
n.3014A>C
c.3001A>C (p.Thr1001Pro)
c.293A>C
c.142A>C (p.Thr48Pro)
c.144A>C
n.3045A>C
c.2872A>C (p.Thr958Pro)
c.2362A>C (p.Thr788Pro)
c.802A>C (p.Thr268Pro)
c.793A>C (p.Thr265Pro)
n.3031A>C
2g.15402239_15402249dupCA531030362NBASc.1088_1098dup
n.3004_3014dup
c.2991_3001dup (p.Thr1001SerfsTer19)
c.283_293dup
c.132_142dup (p.Thr48SerfsTer19)
c.134_144dup
n.3035_3045dup
c.2862_2872dup (p.Thr958SerfsTer19)
c.2352_2362dup (p.Thr788SerfsTer19)
c.792_802dup (p.Thr268SerfsTer19)
c.783_793dup (p.Thr265SerfsTer19)
n.3021_3031dup
dbSNP gnomAD v2 gnomAD v4
2g.15402239A>CCA345882098NBASc.1097T>G
n.3013T>G
c.3000T>G (p.Tyr1000Ter)
c.292T>G
c.141T>G (p.Tyr47Ter)
c.143T>G
n.3044T>G
c.2871T>G (p.Tyr957Ter)
c.2361T>G (p.Tyr787Ter)
c.801T>G (p.Tyr267Ter)
c.792T>G (p.Tyr264Ter)
n.3030T>G
2g.15402239A>GCA424868958NBASc.1097T>C
n.3013T>C
c.3000T>C (p.Tyr1000=)
c.292T>C
c.141T>C (p.Tyr47=)
c.143T>C
n.3044T>C
c.2871T>C (p.Tyr957=)
c.2361T>C (p.Tyr787=)
c.801T>C (p.Tyr267=)
c.792T>C (p.Tyr264=)
n.3030T>C
gnomAD v4
2g.15402239A>TCA345882100NBASc.1097T>A
n.3013T>A
c.3000T>A (p.Tyr1000Ter)
c.292T>A
c.141T>A (p.Tyr47Ter)
c.143T>A
n.3044T>A
c.2871T>A (p.Tyr957Ter)
c.2361T>A (p.Tyr787Ter)
c.801T>A (p.Tyr267Ter)
c.792T>A (p.Tyr264Ter)
n.3030T>A
2g.15402240T>ACA345882104NBASc.1096A>T
n.3012A>T
c.2999A>T (p.Tyr1000Phe)
c.291A>T
c.140A>T (p.Tyr47Phe)
c.142A>T
n.3043A>T
c.2870A>T (p.Tyr957Phe)
c.2360A>T (p.Tyr787Phe)
c.800A>T (p.Tyr267Phe)
c.791A>T (p.Tyr264Phe)
n.3029A>T
2g.15402240T>CCA1536196NBASc.1096A>G
n.3012A>G
c.2999A>G (p.Tyr1000Cys)
c.291A>G
c.140A>G (p.Tyr47Cys)
c.142A>G
n.3043A>G
c.2870A>G (p.Tyr957Cys)
c.2360A>G (p.Tyr787Cys)
c.800A>G (p.Tyr267Cys)
c.791A>G (p.Tyr264Cys)
n.3029A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402240T>GCA345882111NBASc.1096A>C
n.3012A>C
c.2999A>C (p.Tyr1000Ser)
c.291A>C
c.140A>C (p.Tyr47Ser)
c.142A>C
n.3043A>C
c.2870A>C (p.Tyr957Ser)
c.2360A>C (p.Tyr787Ser)
c.800A>C (p.Tyr267Ser)
c.791A>C (p.Tyr264Ser)
n.3029A>C
2g.15402240T=CA2490879611NBASc.1096A=
n.3012A=
c.2999A= (p.Tyr1000=)
c.291A=
c.140A= (p.Tyr47=)
c.142A=
n.3043A=
c.2870A= (p.Tyr957=)
c.2360A= (p.Tyr787=)
c.800A= (p.Tyr267=)
c.791A= (p.Tyr264=)
n.3029A=
2g.15402241A=CA2490879612NBASc.1095T=
n.3011T=
c.2998T= (p.Tyr1000=)
c.290T=
c.139T= (p.Tyr47=)
c.141T=
n.3042T=
c.2869T= (p.Tyr957=)
c.2359T= (p.Tyr787=)
c.799T= (p.Tyr267=)
c.790T= (p.Tyr264=)
n.3028T=
2g.15402241A>CCA345882126NBASc.1095T>G
n.3011T>G
c.2998T>G (p.Tyr1000Asp)
c.290T>G
c.139T>G (p.Tyr47Asp)
c.141T>G
n.3042T>G
c.2869T>G (p.Tyr957Asp)
c.2359T>G (p.Tyr787Asp)
c.799T>G (p.Tyr267Asp)
c.790T>G (p.Tyr264Asp)
n.3028T>G
2g.15402241A>GCA345882123NBASc.1095T>C
n.3011T>C
c.2998T>C (p.Tyr1000His)
c.290T>C
c.139T>C (p.Tyr47His)
c.141T>C
n.3042T>C
c.2869T>C (p.Tyr957His)
c.2359T>C (p.Tyr787His)
c.799T>C (p.Tyr267His)
c.790T>C (p.Tyr264His)
n.3028T>C
dbSNP gnomAD v2 gnomAD v4
2g.15402241A>TCA345882113NBASc.1095T>A
n.3011T>A
c.2998T>A (p.Tyr1000Asn)
c.290T>A
c.139T>A (p.Tyr47Asn)
c.141T>A
n.3042T>A
c.2869T>A (p.Tyr957Asn)
c.2359T>A (p.Tyr787Asn)
c.799T>A (p.Tyr267Asn)
c.790T>A (p.Tyr264Asn)
n.3028T>A
2g.15402242G>ACA424868959NBASc.1094C>T
n.3010C>T
c.2997C>T (p.Ile999=)
c.289C>T
c.138C>T (p.Ile46=)
c.140C>T
n.3041C>T
c.2868C>T (p.Ile956=)
c.2358C>T (p.Ile786=)
c.798C>T (p.Ile266=)
c.789C>T (p.Ile263=)
n.3027C>T
2g.15402242G>CCA1536198NBASc.1094C>G
n.3010C>G
c.2997C>G (p.Ile999Met)
c.289C>G
c.138C>G (p.Ile46Met)
c.140C>G
n.3041C>G
c.2868C>G (p.Ile956Met)
c.2358C>G (p.Ile786Met)
c.798C>G (p.Ile266Met)
c.789C>G (p.Ile263Met)
n.3027C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402242G=CA2490879613NBASc.1094C=
n.3010C=
c.2997C= (p.Ile999=)
c.289C=
c.138C= (p.Ile46=)
c.140C=
n.3041C=
c.2868C= (p.Ile956=)
c.2358C= (p.Ile786=)
c.798C= (p.Ile266=)
c.789C= (p.Ile263=)
n.3027C=
2g.15402242G>TCA424868960NBASc.1094C>A
n.3010C>A
c.2997C>A (p.Ile999=)
c.289C>A
c.138C>A (p.Ile46=)
c.140C>A
n.3041C>A
c.2868C>A (p.Ile956=)
c.2358C>A (p.Ile786=)
c.798C>A (p.Ile266=)
c.789C>A (p.Ile263=)
n.3027C>A
ClinVar dbSNP
2g.15402242_15402244delinsGATCA2490879614NBASc.1092_1094delinsATC
n.3008_3010delinsATC
c.2995_2997delinsATC (p.Ile999=)
c.287_289delinsATC
c.136_138delinsATC (p.Ile46=)
c.138_140delinsATC
n.3039_3041delinsATC
c.2866_2868delinsATC (p.Ile956=)
c.2356_2358delinsATC (p.Ile786=)
c.796_798delinsATC (p.Ile266=)
c.787_789delinsATC (p.Ile263=)
n.3025_3027delinsATC
2g.15402243A>CCA345882131NBASc.1093T>G
n.3009T>G
c.2996T>G (p.Ile999Ser)
c.288T>G
c.137T>G (p.Ile46Ser)
c.139T>G
n.3040T>G
c.2867T>G (p.Ile956Ser)
c.2357T>G (p.Ile786Ser)
c.797T>G (p.Ile266Ser)
c.788T>G (p.Ile263Ser)
n.3026T>G
2g.15402243A>GCA345882133NBASc.1093T>C
n.3009T>C
c.2996T>C (p.Ile999Thr)
c.288T>C
c.137T>C (p.Ile46Thr)
c.139T>C
n.3040T>C
c.2867T>C (p.Ile956Thr)
c.2357T>C (p.Ile786Thr)
c.797T>C (p.Ile266Thr)
c.788T>C (p.Ile263Thr)
n.3026T>C
2g.15402243A>TCA345882134NBASc.1093T>A
n.3009T>A
c.2996T>A (p.Ile999Asn)
c.288T>A
c.137T>A (p.Ile46Asn)
c.139T>A
n.3040T>A
c.2867T>A (p.Ile956Asn)
c.2357T>A (p.Ile786Asn)
c.797T>A (p.Ile266Asn)
c.788T>A (p.Ile263Asn)
n.3026T>A
2g.15402243_15402244delCA1536197NBASc.1092_1093del
n.3008_3009del
c.2995_2996del (p.Ile999LeufsTer4)
c.287_288del
c.136_137del (p.Ile46LeufsTer4)
c.138_139del
n.3039_3040del
c.2866_2867del (p.Ile956LeufsTer4)
c.2356_2357del (p.Ile786LeufsTer4)
c.796_797del (p.Ile266LeufsTer4)
c.787_788del (p.Ile263LeufsTer4)
n.3025_3026del
dbSNP ExAC gnomAD v2 gnomAD v4
2g.15402244T>ACA345882136NBASc.1092A>T
n.3008A>T
c.2995A>T (p.Ile999Phe)
c.287A>T
c.136A>T (p.Ile46Phe)
c.138A>T
n.3039A>T
c.2866A>T (p.Ile956Phe)
c.2356A>T (p.Ile786Phe)
c.796A>T (p.Ile266Phe)
c.787A>T (p.Ile263Phe)
n.3025A>T
2g.15402244T>CCA345882137NBASc.1092A>G
n.3008A>G
c.2995A>G (p.Ile999Val)
c.287A>G
c.136A>G (p.Ile46Val)
c.138A>G
n.3039A>G
c.2866A>G (p.Ile956Val)
c.2356A>G (p.Ile786Val)
c.796A>G (p.Ile266Val)
c.787A>G (p.Ile263Val)
n.3025A>G
2g.15402244T>GCA345882138NBASc.1092A>C
n.3008A>C
c.2995A>C (p.Ile999Leu)
c.287A>C
c.136A>C (p.Ile46Leu)
c.138A>C
n.3039A>C
c.2866A>C (p.Ile956Leu)
c.2356A>C (p.Ile786Leu)
c.796A>C (p.Ile266Leu)
c.787A>C (p.Ile263Leu)
n.3025A>C
COSMIC
2g.15402245G>ACA424868961NBASc.1091C>T
n.3007C>T
c.2994C>T (p.Cys998=)
c.286C>T
c.135C>T (p.Cys45=)
c.137C>T
n.3038C>T
c.2865C>T (p.Cys955=)
c.2355C>T (p.Cys785=)
c.795C>T (p.Cys265=)
c.786C>T (p.Cys262=)
n.3024C>T
dbSNP gnomAD v3 gnomAD v4
2g.15402245G>CCA345882139NBASc.1091C>G
n.3007C>G
c.2994C>G (p.Cys998Trp)
c.286C>G
c.135C>G (p.Cys45Trp)
c.137C>G
n.3038C>G
c.2865C>G (p.Cys955Trp)
c.2355C>G (p.Cys785Trp)
c.795C>G (p.Cys265Trp)
c.786C>G (p.Cys262Trp)
n.3024C>G
2g.15402245G=CA2490879615NBASc.1091C=
n.3007C=
c.2994C= (p.Cys998=)
c.286C=
c.135C= (p.Cys45=)
c.137C=
n.3038C=
c.2865C= (p.Cys955=)
c.2355C= (p.Cys785=)
c.795C= (p.Cys265=)
c.786C= (p.Cys262=)
n.3024C=
2g.15402245G>TCA345882141NBASc.1091C>A
n.3007C>A
c.2994C>A (p.Cys998Ter)
c.286C>A
c.135C>A (p.Cys45Ter)
c.137C>A
n.3038C>A
c.2865C>A (p.Cys955Ter)
c.2355C>A (p.Cys785Ter)
c.795C>A (p.Cys265Ter)
c.786C>A (p.Cys262Ter)
n.3024C>A
2g.15402246C>ACA345882154NBASc.1090G>T
n.3006G>T
c.2993G>T (p.Cys998Phe)
c.285G>T
c.134G>T (p.Cys45Phe)
c.136G>T
n.3037G>T
c.2864G>T (p.Cys955Phe)
c.2354G>T (p.Cys785Phe)
c.794G>T (p.Cys265Phe)
c.785G>T (p.Cys262Phe)
n.3023G>T
2g.15402246C=CA2490879616NBASc.1090G=
n.3006G=
c.2993G= (p.Cys998=)
c.285G=
c.134G= (p.Cys45=)
c.136G=
n.3037G=
c.2864G= (p.Cys955=)
c.2354G= (p.Cys785=)
c.794G= (p.Cys265=)
c.785G= (p.Cys262=)
n.3023G=
2g.15402246C>GCA345882156NBASc.1090G>C
n.3006G>C
c.2993G>C (p.Cys998Ser)
c.285G>C
c.134G>C (p.Cys45Ser)
c.136G>C
n.3037G>C
c.2864G>C (p.Cys955Ser)
c.2354G>C (p.Cys785Ser)
c.794G>C (p.Cys265Ser)
c.785G>C (p.Cys262Ser)
n.3023G>C
2g.15402246C>TCA42621737NBASc.1090G>A
n.3006G>A
c.2993G>A (p.Cys998Tyr)
c.285G>A
c.134G>A (p.Cys45Tyr)
c.136G>A
n.3037G>A
c.2864G>A (p.Cys955Tyr)
c.2354G>A (p.Cys785Tyr)
c.794G>A (p.Cys265Tyr)
c.785G>A (p.Cys262Tyr)
n.3023G>A
dbSNP gnomAD v3 gnomAD v4
2g.15402247_15402250delCA2657911718NBASc.1087_1090del
n.3003_3006del
c.2990_2993del (p.Glu997AlafsTer18)
c.282_285del
c.131_134del (p.Glu44AlafsTer18)
c.133_136del
n.3034_3037del
c.2861_2864del (p.Glu954AlafsTer18)
c.2351_2354del (p.Glu784AlafsTer18)
c.791_794del (p.Glu264AlafsTer18)
c.782_785del (p.Glu261AlafsTer18)
n.3020_3023del
gnomAD v4
2g.15402247A=CA2490879617NBASc.1089T=
n.3005T=
c.2992T= (p.Cys998=)
c.284T=
c.133T= (p.Cys45=)
c.135T=
n.3036T=
c.2863T= (p.Cys955=)
c.2353T= (p.Cys785=)
c.793T= (p.Cys265=)
c.784T= (p.Cys262=)
n.3022T=
2g.15402247A>CCA345882164NBASc.1089T>G
n.3005T>G
c.2992T>G (p.Cys998Gly)
c.284T>G
c.133T>G (p.Cys45Gly)
c.135T>G
n.3036T>G
c.2863T>G (p.Cys955Gly)
c.2353T>G (p.Cys785Gly)
c.793T>G (p.Cys265Gly)
c.784T>G (p.Cys262Gly)
n.3022T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15402247A>GCA345882158NBASc.1089T>C
n.3005T>C
c.2992T>C (p.Cys998Arg)
c.284T>C
c.133T>C (p.Cys45Arg)
c.135T>C
n.3036T>C
c.2863T>C (p.Cys955Arg)
c.2353T>C (p.Cys785Arg)
c.793T>C (p.Cys265Arg)
c.784T>C (p.Cys262Arg)
n.3022T>C
2g.15402247A>TCA345882161NBASc.1089T>A
n.3005T>A
c.2992T>A (p.Cys998Ser)
c.284T>A
c.133T>A (p.Cys45Ser)
c.135T>A
n.3036T>A
c.2863T>A (p.Cys955Ser)
c.2353T>A (p.Cys785Ser)
c.793T>A (p.Cys265Ser)
c.784T>A (p.Cys262Ser)
n.3022T>A
2g.15402248C>ACA345882167NBASc.1088G>T
n.3004G>T
c.2991G>T (p.Glu997Asp)
c.283G>T
c.132G>T (p.Glu44Asp)
c.134G>T
n.3035G>T
c.2862G>T (p.Glu954Asp)
c.2352G>T (p.Glu784Asp)
c.792G>T (p.Glu264Asp)
c.783G>T (p.Glu261Asp)
n.3021G>T
2g.15402248C=CA2490879618NBASc.1088G=
n.3004G=
c.2991G= (p.Glu997=)
c.283G=
c.132G= (p.Glu44=)
c.134G=
n.3035G=
c.2862G= (p.Glu954=)
c.2352G= (p.Glu784=)
c.792G= (p.Glu264=)
c.783G= (p.Glu261=)
n.3021G=
2g.15402248C>GCA345882168NBASc.1088G>C
n.3004G>C
c.2991G>C (p.Glu997Asp)
c.283G>C
c.132G>C (p.Glu44Asp)
c.134G>C
n.3035G>C
c.2862G>C (p.Glu954Asp)
c.2352G>C (p.Glu784Asp)
c.792G>C (p.Glu264Asp)
c.783G>C (p.Glu261Asp)
n.3021G>C
2g.15402248C>TCA424868962NBASc.1088G>A
n.3004G>A
c.2991G>A (p.Glu997=)
c.283G>A
c.132G>A (p.Glu44=)
c.134G>A
n.3035G>A
c.2862G>A (p.Glu954=)
c.2352G>A (p.Glu784=)
c.792G>A (p.Glu264=)
c.783G>A (p.Glu261=)
n.3021G>A
dbSNP gnomAD v2 gnomAD v4
2g.15402249T>ACA345882172NBASc.1087A>T
n.3003A>T
c.2990A>T (p.Glu997Val)
c.282A>T
c.131A>T (p.Glu44Val)
c.133A>T
n.3034A>T
c.2861A>T (p.Glu954Val)
c.2351A>T (p.Glu784Val)
c.791A>T (p.Glu264Val)
c.782A>T (p.Glu261Val)
n.3020A>T
gnomAD v4
2g.15402249T>CCA345882178NBASc.1087A>G
n.3003A>G
c.2990A>G (p.Glu997Gly)
c.282A>G
c.131A>G (p.Glu44Gly)
c.133A>G
n.3034A>G
c.2861A>G (p.Glu954Gly)
c.2351A>G (p.Glu784Gly)
c.791A>G (p.Glu264Gly)
c.782A>G (p.Glu261Gly)
n.3020A>G
2g.15402249T>GCA1536199NBASc.1087A>C
n.3003A>C
c.2990A>C (p.Glu997Ala)
c.282A>C
c.131A>C (p.Glu44Ala)
c.133A>C
n.3034A>C
c.2861A>C (p.Glu954Ala)
c.2351A>C (p.Glu784Ala)
c.791A>C (p.Glu264Ala)
c.782A>C (p.Glu261Ala)
n.3020A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402249T=CA2490879619NBASc.1087A=
n.3003A=
c.2990A= (p.Glu997=)
c.282A=
c.131A= (p.Glu44=)
c.133A=
n.3034A=
c.2861A= (p.Glu954=)
c.2351A= (p.Glu784=)
c.791A= (p.Glu264=)
c.782A= (p.Glu261=)
n.3020A=
2g.15402250C>ACA345882182NBASc.1086G>T
n.3002G>T
c.2989G>T (p.Glu997Ter)
c.281G>T
c.130G>T (p.Glu44Ter)
c.132G>T
n.3033G>T
c.2860G>T (p.Glu954Ter)
c.2350G>T (p.Glu784Ter)
c.790G>T (p.Glu264Ter)
c.781G>T (p.Glu261Ter)
n.3019G>T
2g.15402250C=CA2490879620NBASc.1086G=
n.3002G=
c.2989G= (p.Glu997=)
c.281G=
c.130G= (p.Glu44=)
c.132G=
n.3033G=
c.2860G= (p.Glu954=)
c.2350G= (p.Glu784=)
c.790G= (p.Glu264=)
c.781G= (p.Glu261=)
n.3019G=
2g.15402250C>GCA1536200NBASc.1086G>C
n.3002G>C
c.2989G>C (p.Glu997Gln)
c.281G>C
c.130G>C (p.Glu44Gln)
c.132G>C
n.3033G>C
c.2860G>C (p.Glu954Gln)
c.2350G>C (p.Glu784Gln)
c.790G>C (p.Glu264Gln)
c.781G>C (p.Glu261Gln)
n.3019G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402250C>TCA345882188NBASc.1086G>A
n.3002G>A
c.2989G>A (p.Glu997Lys)
c.281G>A
c.130G>A (p.Glu44Lys)
c.132G>A
n.3033G>A
c.2860G>A (p.Glu954Lys)
c.2350G>A (p.Glu784Lys)
c.790G>A (p.Glu264Lys)
c.781G>A (p.Glu261Lys)
n.3019G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.15402251T>ACA424868963NBASc.1085A>T
n.3001A>T
c.2988A>T (p.Leu996=)
c.280A>T
c.129A>T (p.Leu43=)
c.131A>T
n.3032A>T
c.2859A>T (p.Leu953=)
c.2349A>T (p.Leu783=)
c.789A>T (p.Leu263=)
c.780A>T (p.Leu260=)
n.3018A>T
2g.15402251T>CCA1536201NBASc.1085A>G
n.3001A>G
c.2988A>G (p.Leu996=)
c.280A>G
c.129A>G (p.Leu43=)
c.131A>G
n.3032A>G
c.2859A>G (p.Leu953=)
c.2349A>G (p.Leu783=)
c.789A>G (p.Leu263=)
c.780A>G (p.Leu260=)
n.3018A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15402251T>GCA424868964NBASc.1085A>C
n.3001A>C
c.2988A>C (p.Leu996=)
c.280A>C
c.129A>C (p.Leu43=)
c.131A>C
n.3032A>C
c.2859A>C (p.Leu953=)
c.2349A>C (p.Leu783=)
c.789A>C (p.Leu263=)
c.780A>C (p.Leu260=)
n.3018A>C
2g.15402251T=CA2490879621NBASc.1085A=
n.3001A=
c.2988A= (p.Leu996=)
c.280A=
c.129A= (p.Leu43=)
c.131A=
n.3032A=
c.2859A= (p.Leu953=)
c.2349A= (p.Leu783=)
c.789A= (p.Leu263=)
c.780A= (p.Leu260=)
n.3018A=
2g.15402252A>CCA345882189NBASc.1084T>G
n.3000T>G
c.2987T>G (p.Leu996Arg)
c.279T>G
c.128T>G (p.Leu43Arg)
c.130T>G
n.3031T>G
c.2858T>G (p.Leu953Arg)
c.2348T>G (p.Leu783Arg)
c.788T>G (p.Leu263Arg)
c.779T>G (p.Leu260Arg)
n.3017T>G
2g.15402252A>GCA345882190NBASc.1084T>C
n.3000T>C
c.2987T>C (p.Leu996Pro)
c.279T>C
c.128T>C (p.Leu43Pro)
c.130T>C
n.3031T>C
c.2858T>C (p.Leu953Pro)
c.2348T>C (p.Leu783Pro)
c.788T>C (p.Leu263Pro)
c.779T>C (p.Leu260Pro)
n.3017T>C
2g.15402252A>TCA345882191NBASc.1084T>A
n.3000T>A
c.2987T>A (p.Leu996Gln)
c.279T>A
c.128T>A (p.Leu43Gln)
c.130T>A
n.3031T>A
c.2858T>A (p.Leu953Gln)
c.2348T>A (p.Leu783Gln)
c.788T>A (p.Leu263Gln)
c.779T>A (p.Leu260Gln)
n.3017T>A
2g.15402253G>ACA424868965NBASc.1083C>T
n.2999C>T
c.2986C>T (p.Leu996=)
c.278C>T
c.127C>T (p.Leu43=)
c.129C>T
n.3030C>T
c.2857C>T (p.Leu953=)
c.2347C>T (p.Leu783=)
c.787C>T (p.Leu263=)
c.778C>T (p.Leu260=)
n.3016C>T
dbSNP
2g.15402253G>CCA345882193NBASc.1083C>G
n.2999C>G
c.2986C>G (p.Leu996Val)
c.278C>G
c.127C>G (p.Leu43Val)
c.129C>G
n.3030C>G
c.2857C>G (p.Leu953Val)
c.2347C>G (p.Leu783Val)
c.787C>G (p.Leu263Val)
c.778C>G (p.Leu260Val)
n.3016C>G
2g.15402253G=CA2490879622NBASc.1083C=
n.2999C=
c.2986C= (p.Leu996=)
c.278C=
c.127C= (p.Leu43=)
c.129C=
n.3030C=
c.2857C= (p.Leu953=)
c.2347C= (p.Leu783=)
c.787C= (p.Leu263=)
c.778C= (p.Leu260=)
n.3016C=
2g.15402253G>TCA345882199NBASc.1083C>A
n.2999C>A
c.2986C>A (p.Leu996Ile)
c.278C>A
c.127C>A (p.Leu43Ile)
c.129C>A
n.3030C>A
c.2857C>A (p.Leu953Ile)
c.2347C>A (p.Leu783Ile)
c.787C>A (p.Leu263Ile)
c.778C>A (p.Leu260Ile)
n.3016C>A
gnomAD v4
2g.15402254T>ACA424868966NBASc.1082A>T
n.2998A>T
c.2985A>T (p.Ala995=)
c.277A>T
c.126A>T (p.Ala42=)
c.128A>T
n.3029A>T
c.2856A>T (p.Ala952=)
c.2346A>T (p.Ala782=)
c.786A>T (p.Ala262=)
c.777A>T (p.Ala259=)
n.3015A>T
2g.15402254T>CCA424868967NBASc.1082A>G
n.2998A>G
c.2985A>G (p.Ala995=)
c.277A>G
c.126A>G (p.Ala42=)
c.128A>G
n.3029A>G
c.2856A>G (p.Ala952=)
c.2346A>G (p.Ala782=)
c.786A>G (p.Ala262=)
c.777A>G (p.Ala259=)
n.3015A>G
2g.15402254T>GCA424868968NBASc.1082A>C
n.2998A>C
c.2985A>C (p.Ala995=)
c.277A>C
c.126A>C (p.Ala42=)
c.128A>C
n.3029A>C
c.2856A>C (p.Ala952=)
c.2346A>C (p.Ala782=)
c.786A>C (p.Ala262=)
c.777A>C (p.Ala259=)
n.3015A>C
2g.15402255G>ACA345882202NBASc.1081C>T
n.2997C>T
c.2984C>T (p.Ala995Val)
c.276C>T
c.125C>T (p.Ala42Val)
c.127C>T
n.3028C>T
c.2855C>T (p.Ala952Val)
c.2345C>T (p.Ala782Val)
c.785C>T (p.Ala262Val)
c.776C>T (p.Ala259Val)
n.3014C>T
dbSNP gnomAD v2 gnomAD v4
2g.15402255G>CCA345882204NBASc.1081C>G
n.2997C>G
c.2984C>G (p.Ala995Gly)
c.276C>G
c.125C>G (p.Ala42Gly)
c.127C>G
n.3028C>G
c.2855C>G (p.Ala952Gly)
c.2345C>G (p.Ala782Gly)
c.785C>G (p.Ala262Gly)
c.776C>G (p.Ala259Gly)
n.3014C>G
2g.15402255G=CA2490879623NBASc.1081C=
n.2997C=
c.2984C= (p.Ala995=)
c.276C=
c.125C= (p.Ala42=)
c.127C=
n.3028C=
c.2855C= (p.Ala952=)
c.2345C= (p.Ala782=)
c.785C= (p.Ala262=)
c.776C= (p.Ala259=)
n.3014C=
2g.15402255G>TCA345882203NBASc.1081C>A
n.2997C>A
c.2984C>A (p.Ala995Glu)
c.276C>A
c.125C>A (p.Ala42Glu)
c.127C>A
n.3028C>A
c.2855C>A (p.Ala952Glu)
c.2345C>A (p.Ala782Glu)
c.785C>A (p.Ala262Glu)
c.776C>A (p.Ala259Glu)
n.3014C>A
2g.15402256C>ACA345882205NBASc.1080G>T
n.2996G>T
c.2983G>T (p.Ala995Ser)
c.275G>T
c.124G>T (p.Ala42Ser)
c.126G>T
n.3027G>T
c.2854G>T (p.Ala952Ser)
c.2344G>T (p.Ala782Ser)
c.784G>T (p.Ala262Ser)
c.775G>T (p.Ala259Ser)
n.3013G>T
COSMIC
2g.15402256C>GCA345882207NBASc.1080G>C
n.2996G>C
c.2983G>C (p.Ala995Pro)
c.275G>C
c.124G>C (p.Ala42Pro)
c.126G>C
n.3027G>C
c.2854G>C (p.Ala952Pro)
c.2344G>C (p.Ala782Pro)
c.784G>C (p.Ala262Pro)
c.775G>C (p.Ala259Pro)
n.3013G>C
2g.15402256C>TCA345882210NBASc.1080G>A
n.2996G>A
c.2983G>A (p.Ala995Thr)
c.275G>A
c.124G>A (p.Ala42Thr)
c.126G>A
n.3027G>A
c.2854G>A (p.Ala952Thr)
c.2344G>A (p.Ala782Thr)
c.784G>A (p.Ala262Thr)
c.775G>A (p.Ala259Thr)
n.3013G>A
2g.15402257T>ACA424868970NBASc.1079A>T
n.2995A>T
c.2982A>T (p.Ile994=)
c.274A>T
c.123A>T (p.Ile41=)
c.125A>T
n.3026A>T
c.2853A>T (p.Ile951=)
c.2343A>T (p.Ile781=)
c.783A>T (p.Ile261=)
c.774A>T (p.Ile258=)
n.3012A>T
2g.15402257T>CCA345882212NBASc.1079A>G
n.2995A>G
c.2982A>G (p.Ile994Met)
c.274A>G
c.123A>G (p.Ile41Met)
c.125A>G
n.3026A>G
c.2853A>G (p.Ile951Met)
c.2343A>G (p.Ile781Met)
c.783A>G (p.Ile261Met)
c.774A>G (p.Ile258Met)
n.3012A>G
2g.15402257T>GCA424868969NBASc.1079A>C
n.2995A>C
c.2982A>C (p.Ile994=)
c.274A>C
c.123A>C (p.Ile41=)
c.125A>C
n.3026A>C
c.2853A>C (p.Ile951=)
c.2343A>C (p.Ile781=)
c.783A>C (p.Ile261=)
c.774A>C (p.Ile258=)
n.3012A>C
2g.15402258A>CCA345882219NBASc.1078T>G
n.2994T>G
c.2981T>G (p.Ile994Arg)
c.273T>G
c.122T>G (p.Ile41Arg)
c.124T>G
n.3025T>G
c.2852T>G (p.Ile951Arg)
c.2342T>G (p.Ile781Arg)
c.782T>G (p.Ile261Arg)
c.773T>G (p.Ile258Arg)
n.3011T>G
2g.15402258A>GCA345882221NBASc.1078T>C
n.2994T>C
c.2981T>C (p.Ile994Thr)
c.273T>C
c.122T>C (p.Ile41Thr)
c.124T>C
n.3025T>C
c.2852T>C (p.Ile951Thr)
c.2342T>C (p.Ile781Thr)
c.782T>C (p.Ile261Thr)
c.773T>C (p.Ile258Thr)
n.3011T>C
2g.15402258A>TCA345882224NBASc.1078T>A
n.2994T>A
c.2981T>A (p.Ile994Lys)
c.273T>A
c.122T>A (p.Ile41Lys)
c.124T>A
n.3025T>A
c.2852T>A (p.Ile951Lys)
c.2342T>A (p.Ile781Lys)
c.782T>A (p.Ile261Lys)
c.773T>A (p.Ile258Lys)
n.3011T>A
2g.15402259T>ACA345882228NBASc.1077A>T
n.2993A>T
c.2980A>T (p.Ile994Leu)
c.272A>T
c.121A>T (p.Ile41Leu)
c.123A>T
n.3024A>T
c.2851A>T (p.Ile951Leu)
c.2341A>T (p.Ile781Leu)
c.781A>T (p.Ile261Leu)
c.772A>T (p.Ile258Leu)
n.3010A>T
gnomAD v4
2g.15402259T>CCA1536202NBASc.1077A>G
n.2993A>G
c.2980A>G (p.Ile994Val)
c.272A>G
c.121A>G (p.Ile41Val)
c.123A>G
n.3024A>G
c.2851A>G (p.Ile951Val)
c.2341A>G (p.Ile781Val)
c.781A>G (p.Ile261Val)
c.772A>G (p.Ile258Val)
n.3010A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402259T>GCA345882232NBASc.1077A>C
n.2993A>C
c.2980A>C (p.Ile994Leu)
c.272A>C
c.121A>C (p.Ile41Leu)
c.123A>C
n.3024A>C
c.2851A>C (p.Ile951Leu)
c.2341A>C (p.Ile781Leu)
c.781A>C (p.Ile261Leu)
c.772A>C (p.Ile258Leu)
n.3010A>C
gnomAD v4
2g.15402259T=CA2490879624NBASc.1077A=
n.2993A=
c.2980A= (p.Ile994=)
c.272A=
c.121A= (p.Ile41=)
c.123A=
n.3024A=
c.2851A= (p.Ile951=)
c.2341A= (p.Ile781=)
c.781A= (p.Ile261=)
c.772A= (p.Ile258=)
n.3010A=
2g.15402260T>ACA424868973NBASc.1076A>T
n.2992A>T
c.2979A>T (p.Ala993=)
c.271A>T
c.120A>T (p.Ala40=)
c.122A>T
n.3023A>T
c.2850A>T (p.Ala950=)
c.2340A>T (p.Ala780=)
c.780A>T (p.Ala260=)
c.771A>T (p.Ala257=)
n.3009A>T
2g.15402260T>CCA424868971NBASc.1076A>G
n.2992A>G
c.2979A>G (p.Ala993=)
c.271A>G
c.120A>G (p.Ala40=)
c.122A>G
n.3023A>G
c.2850A>G (p.Ala950=)
c.2340A>G (p.Ala780=)
c.780A>G (p.Ala260=)
c.771A>G (p.Ala257=)
n.3009A>G
2g.15402260T>GCA424868972NBASc.1076A>C
n.2992A>C
c.2979A>C (p.Ala993=)
c.271A>C
c.120A>C (p.Ala40=)
c.122A>C
n.3023A>C
c.2850A>C (p.Ala950=)
c.2340A>C (p.Ala780=)
c.780A>C (p.Ala260=)
c.771A>C (p.Ala257=)
n.3009A>C
dbSNP gnomAD v2
2g.15402260T=CA2490879625NBASc.1076A=
n.2992A=
c.2979A= (p.Ala993=)
c.271A=
c.120A= (p.Ala40=)
c.122A=
n.3023A=
c.2850A= (p.Ala950=)
c.2340A= (p.Ala780=)
c.780A= (p.Ala260=)
c.771A= (p.Ala257=)
n.3009A=
2g.15402261G>ACA345882235NBASc.1075C>T
n.2991C>T
c.2978C>T (p.Ala993Val)
c.270C>T
c.119C>T (p.Ala40Val)
c.121C>T
n.3022C>T
c.2849C>T (p.Ala950Val)
c.2339C>T (p.Ala780Val)
c.779C>T (p.Ala260Val)
c.770C>T (p.Ala257Val)
n.3008C>T
2g.15402261G>CCA345882237NBASc.1075C>G
n.2991C>G
c.2978C>G (p.Ala993Gly)
c.270C>G
c.119C>G (p.Ala40Gly)
c.121C>G
n.3022C>G
c.2849C>G (p.Ala950Gly)
c.2339C>G (p.Ala780Gly)
c.779C>G (p.Ala260Gly)
c.770C>G (p.Ala257Gly)
n.3008C>G
2g.15402261G>TCA345882239NBASc.1075C>A
n.2991C>A
c.2978C>A (p.Ala993Glu)
c.270C>A
c.119C>A (p.Ala40Glu)
c.121C>A
n.3022C>A
c.2849C>A (p.Ala950Glu)
c.2339C>A (p.Ala780Glu)
c.779C>A (p.Ala260Glu)
c.770C>A (p.Ala257Glu)
n.3008C>A
2g.15402262C>ACA345882242NBASc.1074G>T
n.2990G>T
c.2977G>T (p.Ala993Ser)
c.269G>T
c.118G>T (p.Ala40Ser)
c.120G>T
n.3021G>T
c.2848G>T (p.Ala950Ser)
c.2338G>T (p.Ala780Ser)
c.778G>T (p.Ala260Ser)
c.769G>T (p.Ala257Ser)
n.3007G>T
dbSNP gnomAD v2 gnomAD v4
2g.15402262C=CA2490879626NBASc.1074G=
n.2990G=
c.2977G= (p.Ala993=)
c.269G=
c.118G= (p.Ala40=)
c.120G=
n.3021G=
c.2848G= (p.Ala950=)
c.2338G= (p.Ala780=)
c.778G= (p.Ala260=)
c.769G= (p.Ala257=)
n.3007G=
2g.15402262C>GCA345882246NBASc.1074G>C
n.2990G>C
c.2977G>C (p.Ala993Pro)
c.269G>C
c.118G>C (p.Ala40Pro)
c.120G>C
n.3021G>C
c.2848G>C (p.Ala950Pro)
c.2338G>C (p.Ala780Pro)
c.778G>C (p.Ala260Pro)
c.769G>C (p.Ala257Pro)
n.3007G>C
2g.15402262C>TCA345882244NBASc.1074G>A
n.2990G>A
c.2977G>A (p.Ala993Thr)
c.269G>A
c.118G>A (p.Ala40Thr)
c.120G>A
n.3021G>A
c.2848G>A (p.Ala950Thr)
c.2338G>A (p.Ala780Thr)
c.778G>A (p.Ala260Thr)
c.769G>A (p.Ala257Thr)
n.3007G>A
gnomAD v4
2g.15402263C>ACA345882249NBASc.1073G>T
n.2989G>T
c.2976G>T (p.Met992Ile)
c.268G>T
c.117G>T (p.Met39Ile)
c.119G>T
n.3020G>T
c.2847G>T (p.Met949Ile)
c.2337G>T (p.Met779Ile)
c.777G>T (p.Met259Ile)
c.768G>T (p.Met256Ile)
n.3006G>T
2g.15402263C>GCA345882252NBASc.1073G>C
n.2989G>C
c.2976G>C (p.Met992Ile)
c.268G>C
c.117G>C (p.Met39Ile)
c.119G>C
n.3020G>C
c.2847G>C (p.Met949Ile)
c.2337G>C (p.Met779Ile)
c.777G>C (p.Met259Ile)
c.768G>C (p.Met256Ile)
n.3006G>C
2g.15402263C>TCA345882255NBASc.1073G>A
n.2989G>A
c.2976G>A (p.Met992Ile)
c.268G>A
c.117G>A (p.Met39Ile)
c.119G>A
n.3020G>A
c.2847G>A (p.Met949Ile)
c.2337G>A (p.Met779Ile)
c.777G>A (p.Met259Ile)
c.768G>A (p.Met256Ile)
n.3006G>A
2g.15402264A>CCA345882265NBASc.1072T>G
n.2988T>G
c.2975T>G (p.Met992Arg)
c.267T>G
c.116T>G (p.Met39Arg)
c.118T>G
n.3019T>G
c.2846T>G (p.Met949Arg)
c.2336T>G (p.Met779Arg)
c.776T>G (p.Met259Arg)
c.767T>G (p.Met256Arg)
n.3005T>G
2g.15402264A>GCA345882266NBASc.1072T>C
n.2988T>C
c.2975T>C (p.Met992Thr)
c.267T>C
c.116T>C (p.Met39Thr)
c.118T>C
n.3019T>C
c.2846T>C (p.Met949Thr)
c.2336T>C (p.Met779Thr)
c.776T>C (p.Met259Thr)
c.767T>C (p.Met256Thr)
n.3005T>C
2g.15402264A>TCA345882268NBASc.1072T>A
n.2988T>A
c.2975T>A (p.Met992Lys)
c.267T>A
c.116T>A (p.Met39Lys)
c.118T>A
n.3019T>A
c.2846T>A (p.Met949Lys)
c.2336T>A (p.Met779Lys)
c.776T>A (p.Met259Lys)
c.767T>A (p.Met256Lys)
n.3005T>A
2g.15402265T>ACA345882269NBASc.1071A>T
n.2987A>T
c.2974A>T (p.Met992Leu)
c.266A>T
c.115A>T (p.Met39Leu)
c.117A>T
n.3018A>T
c.2845A>T (p.Met949Leu)
c.2335A>T (p.Met779Leu)
c.775A>T (p.Met259Leu)
c.766A>T (p.Met256Leu)
n.3004A>T
2g.15402265T>CCA345882271NBASc.1071A>G
n.2987A>G
c.2974A>G (p.Met992Val)
c.266A>G
c.115A>G (p.Met39Val)
c.117A>G
n.3018A>G
c.2845A>G (p.Met949Val)
c.2335A>G (p.Met779Val)
c.775A>G (p.Met259Val)
c.766A>G (p.Met256Val)
n.3004A>G
2g.15402265T>GCA345882274NBASc.1071A>C
n.2987A>C
c.2974A>C (p.Met992Leu)
c.266A>C
c.115A>C (p.Met39Leu)
c.117A>C
n.3018A>C
c.2845A>C (p.Met949Leu)
c.2335A>C (p.Met779Leu)
c.775A>C (p.Met259Leu)
c.766A>C (p.Met256Leu)
n.3004A>C
2g.15402266C>ACA424868974NBASc.1070G>T
n.2986G>T
c.2973G>T (p.Leu991=)
c.265G>T
c.114G>T (p.Leu38=)
c.116G>T
n.3017G>T
c.2844G>T (p.Leu948=)
c.2334G>T (p.Leu778=)
c.774G>T (p.Leu258=)
c.765G>T (p.Leu255=)
n.3003G>T
2g.15402266C>GCA424868975NBASc.1070G>C
n.2986G>C
c.2973G>C (p.Leu991=)
c.265G>C
c.114G>C (p.Leu38=)
c.116G>C
n.3017G>C
c.2844G>C (p.Leu948=)
c.2334G>C (p.Leu778=)
c.774G>C (p.Leu258=)
c.765G>C (p.Leu255=)
n.3003G>C
2g.15402266C>TCA424868976NBASc.1070G>A
n.2986G>A
c.2973G>A (p.Leu991=)
c.265G>A
c.114G>A (p.Leu38=)
c.116G>A
n.3017G>A
c.2844G>A (p.Leu948=)
c.2334G>A (p.Leu778=)
c.774G>A (p.Leu258=)
c.765G>A (p.Leu255=)
n.3003G>A
2g.15402267A>CCA345882280NBASc.1069T>G
n.2985T>G
c.2972T>G (p.Leu991Arg)
c.264T>G
c.113T>G (p.Leu38Arg)
c.115T>G
n.3016T>G
c.2843T>G (p.Leu948Arg)
c.2333T>G (p.Leu778Arg)
c.773T>G (p.Leu258Arg)
c.764T>G (p.Leu255Arg)
n.3002T>G
2g.15402267A>GCA345882279NBASc.1069T>C
n.2985T>C
c.2972T>C (p.Leu991Pro)
c.264T>C
c.113T>C (p.Leu38Pro)
c.115T>C
n.3016T>C
c.2843T>C (p.Leu948Pro)
c.2333T>C (p.Leu778Pro)
c.773T>C (p.Leu258Pro)
c.764T>C (p.Leu255Pro)
n.3002T>C
2g.15402267A>TCA345882277NBASc.1069T>A
n.2985T>A
c.2972T>A (p.Leu991Gln)
c.264T>A
c.113T>A (p.Leu38Gln)
c.115T>A
n.3016T>A
c.2843T>A (p.Leu948Gln)
c.2333T>A (p.Leu778Gln)
c.773T>A (p.Leu258Gln)
c.764T>A (p.Leu255Gln)
n.3002T>A
2g.15402268G>ACA424868977NBASc.1068C>T
n.2984C>T
c.2971C>T (p.Leu991=)
c.263C>T
c.112C>T (p.Leu38=)
c.114C>T
n.3015C>T
c.2842C>T (p.Leu948=)
c.2332C>T (p.Leu778=)
c.772C>T (p.Leu258=)
c.763C>T (p.Leu255=)
n.3001C>T
2g.15402268G>CCA345882281NBASc.1068C>G
n.2984C>G
c.2971C>G (p.Leu991Val)
c.263C>G
c.112C>G (p.Leu38Val)
c.114C>G
n.3015C>G
c.2842C>G (p.Leu948Val)
c.2332C>G (p.Leu778Val)
c.772C>G (p.Leu258Val)
c.763C>G (p.Leu255Val)
n.3001C>G
gnomAD v4
2g.15402268G>TCA345882282NBASc.1068C>A
n.2984C>A
c.2971C>A (p.Leu991Met)
c.263C>A
c.112C>A (p.Leu38Met)
c.114C>A
n.3015C>A
c.2842C>A (p.Leu948Met)
c.2332C>A (p.Leu778Met)
c.772C>A (p.Leu258Met)
c.763C>A (p.Leu255Met)
n.3001C>A
2g.15402269T>ACA345882283NBASc.1067A>T
n.2983A>T
c.2970A>T (p.Gln990His)
c.262A>T
c.111A>T (p.Gln37His)
c.113A>T
n.3014A>T
c.2841A>T (p.Gln947His)
c.2331A>T (p.Gln777His)
c.771A>T (p.Gln257His)
c.762A>T (p.Gln254His)
n.3000A>T
2g.15402269T>CCA424868978NBASc.1067A>G
n.2983A>G
c.2970A>G (p.Gln990=)
c.262A>G
c.111A>G (p.Gln37=)
c.113A>G
n.3014A>G
c.2841A>G (p.Gln947=)
c.2331A>G (p.Gln777=)
c.771A>G (p.Gln257=)
c.762A>G (p.Gln254=)
n.3000A>G
2g.15402269T>GCA345882284NBASc.1067A>C
n.2983A>C
c.2970A>C (p.Gln990His)
c.262A>C
c.111A>C (p.Gln37His)
c.113A>C
n.3014A>C
c.2841A>C (p.Gln947His)
c.2331A>C (p.Gln777His)
c.771A>C (p.Gln257His)
c.762A>C (p.Gln254His)
n.3000A>C
2g.15402270T>ACA345882285NBASc.1066A>T
n.2982A>T
c.2969A>T (p.Gln990Leu)
c.261A>T
c.110A>T (p.Gln37Leu)
c.112A>T
n.3013A>T
c.2840A>T (p.Gln947Leu)
c.2330A>T (p.Gln777Leu)
c.770A>T (p.Gln257Leu)
c.761A>T (p.Gln254Leu)
n.2999A>T
2g.15402270T>CCA345882286NBASc.1066A>G
n.2982A>G
c.2969A>G (p.Gln990Arg)
c.261A>G
c.110A>G (p.Gln37Arg)
c.112A>G
n.3013A>G
c.2840A>G (p.Gln947Arg)
c.2330A>G (p.Gln777Arg)
c.770A>G (p.Gln257Arg)
c.761A>G (p.Gln254Arg)
n.2999A>G
COSMIC
2g.15402270T>GCA345882287NBASc.1066A>C
n.2982A>C
c.2969A>C (p.Gln990Pro)
c.261A>C
c.110A>C (p.Gln37Pro)
c.112A>C
n.3013A>C
c.2840A>C (p.Gln947Pro)
c.2330A>C (p.Gln777Pro)
c.770A>C (p.Gln257Pro)
c.761A>C (p.Gln254Pro)
n.2999A>C
2g.15402271G>ACA345882288NBASc.1065C>T
n.2981C>T
c.2968C>T (p.Gln990Ter)
c.260C>T
c.109C>T (p.Gln37Ter)
c.111C>T
n.3012C>T
c.2839C>T (p.Gln947Ter)
c.2329C>T (p.Gln777Ter)
c.769C>T (p.Gln257Ter)
c.760C>T (p.Gln254Ter)
n.2998C>T
2g.15402271G>CCA345882289NBASc.1065C>G
n.2981C>G
c.2968C>G (p.Gln990Glu)
c.260C>G
c.109C>G (p.Gln37Glu)
c.111C>G
n.3012C>G
c.2839C>G (p.Gln947Glu)
c.2329C>G (p.Gln777Glu)
c.769C>G (p.Gln257Glu)
c.760C>G (p.Gln254Glu)
n.2998C>G
2g.15402271G>TCA345882290NBASc.1065C>A
n.2981C>A
c.2968C>A (p.Gln990Lys)
c.260C>A
c.109C>A (p.Gln37Lys)
c.111C>A
n.3012C>A
c.2839C>A (p.Gln947Lys)
c.2329C>A (p.Gln777Lys)
c.769C>A (p.Gln257Lys)
c.760C>A (p.Gln254Lys)
n.2998C>A
2g.15402272G>ACA424868979NBASc.1064C>T
n.2980C>T
c.2967C>T (p.Asp989=)
c.259C>T
c.108C>T (p.Asp36=)
c.110C>T
n.3011C>T
c.2838C>T (p.Asp946=)
c.2328C>T (p.Asp776=)
c.768C>T (p.Asp256=)
c.759C>T (p.Asp253=)
n.2997C>T
gnomAD v4
2g.15402272G>CCA345882291NBASc.1064C>G
n.2980C>G
c.2967C>G (p.Asp989Glu)
c.259C>G
c.108C>G (p.Asp36Glu)
c.110C>G
n.3011C>G
c.2838C>G (p.Asp946Glu)
c.2328C>G (p.Asp776Glu)
c.768C>G (p.Asp256Glu)
c.759C>G (p.Asp253Glu)
n.2997C>G
2g.15402272G>TCA345882292NBASc.1064C>A
n.2980C>A
c.2967C>A (p.Asp989Glu)
c.259C>A
c.108C>A (p.Asp36Glu)
c.110C>A
n.3011C>A
c.2838C>A (p.Asp946Glu)
c.2328C>A (p.Asp776Glu)
c.768C>A (p.Asp256Glu)
c.759C>A (p.Asp253Glu)
n.2997C>A
2g.15402273T>ACA345882301NBASc.1063A>T
n.2979A>T
c.2966A>T (p.Asp989Val)
c.258A>T
c.107A>T (p.Asp36Val)
c.109A>T
n.3010A>T
c.2837A>T (p.Asp946Val)
c.2327A>T (p.Asp776Val)
c.767A>T (p.Asp256Val)
c.758A>T (p.Asp253Val)
n.2996A>T
2g.15402273T>CCA345882298NBASc.1063A>G
n.2979A>G
c.2966A>G (p.Asp989Gly)
c.258A>G
c.107A>G (p.Asp36Gly)
c.109A>G
n.3010A>G
c.2837A>G (p.Asp946Gly)
c.2327A>G (p.Asp776Gly)
c.767A>G (p.Asp256Gly)
c.758A>G (p.Asp253Gly)
n.2996A>G
2g.15402273T>GCA345882293NBASc.1063A>C
n.2979A>C
c.2966A>C (p.Asp989Ala)
c.258A>C
c.107A>C (p.Asp36Ala)
c.109A>C
n.3010A>C
c.2837A>C (p.Asp946Ala)
c.2327A>C (p.Asp776Ala)
c.767A>C (p.Asp256Ala)
c.758A>C (p.Asp253Ala)
n.2996A>C
2g.15402274C>ACA345882302NBASc.1062G>T
n.2978G>T
c.2965G>T (p.Asp989Tyr)
c.257G>T
c.106G>T (p.Asp36Tyr)
c.108G>T
n.3009G>T
c.2836G>T (p.Asp946Tyr)
c.2326G>T (p.Asp776Tyr)
c.766G>T (p.Asp256Tyr)
c.757G>T (p.Asp253Tyr)
n.2995G>T
2g.15402274C>GCA345882303NBASc.1062G>C
n.2978G>C
c.2965G>C (p.Asp989His)
c.257G>C
c.106G>C (p.Asp36His)
c.108G>C
n.3009G>C
c.2836G>C (p.Asp946His)
c.2326G>C (p.Asp776His)
c.766G>C (p.Asp256His)
c.757G>C (p.Asp253His)
n.2995G>C
2g.15402274C>TCA345882304NBASc.1062G>A
n.2978G>A
c.2965G>A (p.Asp989Asn)
c.257G>A
c.106G>A (p.Asp36Asn)
c.108G>A
n.3009G>A
c.2836G>A (p.Asp946Asn)
c.2326G>A (p.Asp776Asn)
c.766G>A (p.Asp256Asn)
c.757G>A (p.Asp253Asn)
n.2995G>A
2g.15402275C>ACA345882308NBASc.1061G>T
n.2977G>T
c.2964G>T (p.Gln988His)
c.256G>T
c.105G>T (p.Gln35His)
c.107G>T
n.3008G>T
c.2835G>T (p.Gln945His)
c.2325G>T (p.Gln775His)
c.765G>T (p.Gln255His)
c.756G>T (p.Gln252His)
n.2994G>T
COSMIC
2g.15402275C>GCA345882311NBASc.1061G>C
n.2977G>C
c.2964G>C (p.Gln988His)
c.256G>C
c.105G>C (p.Gln35His)
c.107G>C
n.3008G>C
c.2835G>C (p.Gln945His)
c.2325G>C (p.Gln775His)
c.765G>C (p.Gln255His)
c.756G>C (p.Gln252His)
n.2994G>C
2g.15402275C>TCA424868980NBASc.1061G>A
n.2977G>A
c.2964G>A (p.Gln988=)
c.256G>A
c.105G>A (p.Gln35=)
c.107G>A
n.3008G>A
c.2835G>A (p.Gln945=)
c.2325G>A (p.Gln775=)
c.765G>A (p.Gln255=)
c.756G>A (p.Gln252=)
n.2994G>A
gnomAD v4
2g.15402276T>ACA345882324NBASc.1060A>T
n.2976A>T
c.2963A>T (p.Gln988Leu)
c.255A>T
c.104A>T (p.Gln35Leu)
c.106A>T
n.3007A>T
c.2834A>T (p.Gln945Leu)
c.2324A>T (p.Gln775Leu)
c.764A>T (p.Gln255Leu)
c.755A>T (p.Gln252Leu)
n.2993A>T
2g.15402276T>CCA345882338NBASc.1060A>G
n.2976A>G
c.2963A>G (p.Gln988Arg)
c.255A>G
c.104A>G (p.Gln35Arg)
c.106A>G
n.3007A>G
c.2834A>G (p.Gln945Arg)
c.2324A>G (p.Gln775Arg)
c.764A>G (p.Gln255Arg)
c.755A>G (p.Gln252Arg)
n.2993A>G
gnomAD v4
2g.15402276T>GCA345882348NBASc.1060A>C
n.2976A>C
c.2963A>C (p.Gln988Pro)
c.255A>C
c.104A>C (p.Gln35Pro)
c.106A>C
n.3007A>C
c.2834A>C (p.Gln945Pro)
c.2324A>C (p.Gln775Pro)
c.764A>C (p.Gln255Pro)
c.755A>C (p.Gln252Pro)
n.2993A>C
gnomAD v4
2g.15402277G>ACA345882350NBASc.1059C>T
n.2975C>T
c.2962C>T (p.Gln988Ter)
c.254C>T
c.103C>T (p.Gln35Ter)
c.105C>T
n.3006C>T
c.2833C>T (p.Gln945Ter)
c.2323C>T (p.Gln775Ter)
c.763C>T (p.Gln255Ter)
c.754C>T (p.Gln252Ter)
n.2992C>T
2g.15402277G>CCA345882352NBASc.1059C>G
n.2975C>G
c.2962C>G (p.Gln988Glu)
c.254C>G
c.103C>G (p.Gln35Glu)
c.105C>G
n.3006C>G
c.2833C>G (p.Gln945Glu)
c.2323C>G (p.Gln775Glu)
c.763C>G (p.Gln255Glu)
c.754C>G (p.Gln252Glu)
n.2992C>G
dbSNP gnomAD v2 gnomAD v4
2g.15402277G=CA2490879627NBASc.1059C=
n.2975C=
c.2962C= (p.Gln988=)
c.254C=
c.103C= (p.Gln35=)
c.105C=
n.3006C=
c.2833C= (p.Gln945=)
c.2323C= (p.Gln775=)
c.763C= (p.Gln255=)
c.754C= (p.Gln252=)
n.2992C=
2g.15402277G>TCA345882358NBASc.1059C>A
n.2975C>A
c.2962C>A (p.Gln988Lys)
c.254C>A
c.103C>A (p.Gln35Lys)
c.105C>A
n.3006C>A
c.2833C>A (p.Gln945Lys)
c.2323C>A (p.Gln775Lys)
c.763C>A (p.Gln255Lys)
c.754C>A (p.Gln252Lys)
n.2992C>A
2g.15402278A>CCA345882360NBASc.1058T>G
n.2974T>G
c.2961T>G (p.Asp987Glu)
c.253T>G
c.102T>G (p.Asp34Glu)
c.104T>G
n.3005T>G
c.2832T>G (p.Asp944Glu)
c.2322T>G (p.Asp774Glu)
c.762T>G (p.Asp254Glu)
c.753T>G (p.Asp251Glu)
n.2991T>G
2g.15402278A>GCA424868981NBASc.1058T>C
n.2974T>C
c.2961T>C (p.Asp987=)
c.253T>C
c.102T>C (p.Asp34=)
c.104T>C
n.3005T>C
c.2832T>C (p.Asp944=)
c.2322T>C (p.Asp774=)
c.762T>C (p.Asp254=)
c.753T>C (p.Asp251=)
n.2991T>C
2g.15402278A>TCA345882363NBASc.1058T>A
n.2974T>A
c.2961T>A (p.Asp987Glu)
c.253T>A
c.102T>A (p.Asp34Glu)
c.104T>A
n.3005T>A
c.2832T>A (p.Asp944Glu)
c.2322T>A (p.Asp774Glu)
c.762T>A (p.Asp254Glu)
c.753T>A (p.Asp251Glu)
n.2991T>A
2g.15402279T>ACA345882371NBASc.1057A>T
n.2973A>T
c.2960A>T (p.Asp987Val)
c.252A>T
c.101A>T (p.Asp34Val)
c.103A>T
n.3004A>T
c.2831A>T (p.Asp944Val)
c.2321A>T (p.Asp774Val)
c.761A>T (p.Asp254Val)
c.752A>T (p.Asp251Val)
n.2990A>T
2g.15402279T>CCA345882374NBASc.1057A>G
n.2973A>G
c.2960A>G (p.Asp987Gly)
c.252A>G
c.101A>G (p.Asp34Gly)
c.103A>G
n.3004A>G
c.2831A>G (p.Asp944Gly)
c.2321A>G (p.Asp774Gly)
c.761A>G (p.Asp254Gly)
c.752A>G (p.Asp251Gly)
n.2990A>G
2g.15402279T>GCA1536203NBASc.1057A>C
n.2973A>C
c.2960A>C (p.Asp987Ala)
c.252A>C
c.101A>C (p.Asp34Ala)
c.103A>C
n.3004A>C
c.2831A>C (p.Asp944Ala)
c.2321A>C (p.Asp774Ala)
c.761A>C (p.Asp254Ala)
c.752A>C (p.Asp251Ala)
n.2990A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402279T=CA2490879628NBASc.1057A=
n.2973A=
c.2960A= (p.Asp987=)
c.252A=
c.101A= (p.Asp34=)
c.103A=
n.3004A=
c.2831A= (p.Asp944=)
c.2321A= (p.Asp774=)
c.761A= (p.Asp254=)
c.752A= (p.Asp251=)
n.2990A=
2g.15402280C>ACA345882385NBASc.1056G>T
n.2972G>T
c.2959G>T (p.Asp987Tyr)
c.251G>T
c.100G>T (p.Asp34Tyr)
c.102G>T
n.3003G>T
c.2830G>T (p.Asp944Tyr)
c.2320G>T (p.Asp774Tyr)
c.760G>T (p.Asp254Tyr)
c.751G>T (p.Asp251Tyr)
n.2989G>T
gnomAD v4
2g.15402280C=CA2490879629NBASc.1056G=
n.2972G=
c.2959G= (p.Asp987=)
c.251G=
c.100G= (p.Asp34=)
c.102G=
n.3003G=
c.2830G= (p.Asp944=)
c.2320G= (p.Asp774=)
c.760G= (p.Asp254=)
c.751G= (p.Asp251=)
n.2989G=
2g.15402280C>GCA345882383NBASc.1056G>C
n.2972G>C
c.2959G>C (p.Asp987His)
c.251G>C
c.100G>C (p.Asp34His)
c.102G>C
n.3003G>C
c.2830G>C (p.Asp944His)
c.2320G>C (p.Asp774His)
c.760G>C (p.Asp254His)
c.751G>C (p.Asp251His)
n.2989G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15402280C>TCA1536204NBASc.1056G>A
n.2972G>A
c.2959G>A (p.Asp987Asn)
c.251G>A
c.100G>A (p.Asp34Asn)
c.102G>A
n.3003G>A
c.2830G>A (p.Asp944Asn)
c.2320G>A (p.Asp774Asn)
c.760G>A (p.Asp254Asn)
c.751G>A (p.Asp251Asn)
n.2989G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15402281A>CCA424868982NBASc.1055T>G
n.2971T>G
c.2958T>G (p.Pro986=)
c.250T>G
c.99T>G (p.Pro33=)
c.101T>G
n.3002T>G
c.2829T>G (p.Pro943=)
c.2319T>G (p.Pro773=)
c.759T>G (p.Pro253=)
c.750T>G (p.Pro250=)
n.2988T>G
2g.15402281A>GCA424868983NBASc.1055T>C
n.2971T>C
c.2958T>C (p.Pro986=)
c.250T>C
c.99T>C (p.Pro33=)
c.101T>C
n.3002T>C
c.2829T>C (p.Pro943=)
c.2319T>C (p.Pro773=)
c.759T>C (p.Pro253=)
c.750T>C (p.Pro250=)
n.2988T>C
2g.15402281A>TCA424868984NBASc.1055T>A
n.2971T>A
c.2958T>A (p.Pro986=)
c.250T>A
c.99T>A (p.Pro33=)
c.101T>A
n.3002T>A
c.2829T>A (p.Pro943=)
c.2319T>A (p.Pro773=)
c.759T>A (p.Pro253=)
c.750T>A (p.Pro250=)
n.2988T>A
2g.15402282G>ACA345882390NBASc.1054C>T
n.2970C>T
c.2957C>T (p.Pro986Leu)
c.249C>T
c.98C>T (p.Pro33Leu)
c.100C>T
n.3001C>T
c.2828C>T (p.Pro943Leu)
c.2318C>T (p.Pro773Leu)
c.758C>T (p.Pro253Leu)
c.749C>T (p.Pro250Leu)
n.2987C>T
2g.15402282G>CCA345882395NBASc.1054C>G
n.2970C>G
c.2957C>G (p.Pro986Arg)
c.249C>G
c.98C>G (p.Pro33Arg)
c.100C>G
n.3001C>G
c.2828C>G (p.Pro943Arg)
c.2318C>G (p.Pro773Arg)
c.758C>G (p.Pro253Arg)
c.749C>G (p.Pro250Arg)
n.2987C>G
2g.15402282G>TCA345882392NBASc.1054C>A
n.2970C>A
c.2957C>A (p.Pro986His)
c.249C>A
c.98C>A (p.Pro33His)
c.100C>A
n.3001C>A
c.2828C>A (p.Pro943His)
c.2318C>A (p.Pro773His)
c.758C>A (p.Pro253His)
c.749C>A (p.Pro250His)
n.2987C>A
2g.15402283G>ACA345882398NBASc.1053C>T
n.2969C>T
c.2956C>T (p.Pro986Ser)
c.248C>T
c.97C>T (p.Pro33Ser)
c.99C>T
n.3000C>T
c.2827C>T (p.Pro943Ser)
c.2317C>T (p.Pro773Ser)
c.757C>T (p.Pro253Ser)
c.748C>T (p.Pro250Ser)
n.2986C>T
gnomAD v4 COSMIC
2g.15402283G>CCA345882399NBASc.1053C>G
n.2969C>G
c.2956C>G (p.Pro986Ala)
c.248C>G
c.97C>G (p.Pro33Ala)
c.99C>G
n.3000C>G
c.2827C>G (p.Pro943Ala)
c.2317C>G (p.Pro773Ala)
c.757C>G (p.Pro253Ala)
c.748C>G (p.Pro250Ala)
n.2986C>G
2g.15402283G>TCA345882402NBASc.1053C>A
n.2969C>A
c.2956C>A (p.Pro986Thr)
c.248C>A
c.97C>A (p.Pro33Thr)
c.99C>A
n.3000C>A
c.2827C>A (p.Pro943Thr)
c.2317C>A (p.Pro773Thr)
c.757C>A (p.Pro253Thr)
c.748C>A (p.Pro250Thr)
n.2986C>A
ClinVar dbSNP gnomAD v4
2g.15402284A>CCA345882405NBASc.1052T>G
n.2968T>G
c.2955T>G (p.Ile985Met)
c.247T>G
c.96T>G (p.Ile32Met)
c.98T>G
n.2999T>G
c.2826T>G (p.Ile942Met)
c.2316T>G (p.Ile772Met)
c.756T>G (p.Ile252Met)
c.747T>G (p.Ile249Met)
n.2985T>G
2g.15402284A>GCA424868985NBASc.1052T>C
n.2968T>C
c.2955T>C (p.Ile985=)
c.247T>C
c.96T>C (p.Ile32=)
c.98T>C
n.2999T>C
c.2826T>C (p.Ile942=)
c.2316T>C (p.Ile772=)
c.756T>C (p.Ile252=)
c.747T>C (p.Ile249=)
n.2985T>C
2g.15402284A>TCA424868986NBASc.1052T>A
n.2968T>A
c.2955T>A (p.Ile985=)
c.247T>A
c.96T>A (p.Ile32=)
c.98T>A
n.2999T>A
c.2826T>A (p.Ile942=)
c.2316T>A (p.Ile772=)
c.756T>A (p.Ile252=)
c.747T>A (p.Ile249=)
n.2985T>A
2g.15402285A=CA2490879630NBASc.1051T=
n.2967T=
c.2954T= (p.Ile985=)
c.246T=
c.95T= (p.Ile32=)
c.97T=
n.2998T=
c.2825T= (p.Ile942=)
c.2315T= (p.Ile772=)
c.755T= (p.Ile252=)
c.746T= (p.Ile249=)
n.2984T=
2g.15402285A>CCA345882408NBASc.1051T>G
n.2967T>G
c.2954T>G (p.Ile985Ser)
c.246T>G
c.95T>G (p.Ile32Ser)
c.97T>G
n.2998T>G
c.2825T>G (p.Ile942Ser)
c.2315T>G (p.Ile772Ser)
c.755T>G (p.Ile252Ser)
c.746T>G (p.Ile249Ser)
n.2984T>G
2g.15402285A>GCA42621762NBASc.1051T>C
n.2967T>C
c.2954T>C (p.Ile985Thr)
c.246T>C
c.95T>C (p.Ile32Thr)
c.97T>C
n.2998T>C
c.2825T>C (p.Ile942Thr)
c.2315T>C (p.Ile772Thr)
c.755T>C (p.Ile252Thr)
c.746T>C (p.Ile249Thr)
n.2984T>C
dbSNP COSMIC
2g.15402285A>TCA345882415NBASc.1051T>A
n.2967T>A
c.2954T>A (p.Ile985Asn)
c.246T>A
c.95T>A (p.Ile32Asn)
c.97T>A
n.2998T>A
c.2825T>A (p.Ile942Asn)
c.2315T>A (p.Ile772Asn)
c.755T>A (p.Ile252Asn)
c.746T>A (p.Ile249Asn)
n.2984T>A
2g.15402286T>ACA345882423NBASc.1050A>T
n.2966A>T
c.2953A>T (p.Ile985Phe)
c.245A>T
c.94A>T (p.Ile32Phe)
c.96A>T
n.2997A>T
c.2824A>T (p.Ile942Phe)
c.2314A>T (p.Ile772Phe)
c.754A>T (p.Ile252Phe)
c.745A>T (p.Ile249Phe)
n.2983A>T
gnomAD v4
2g.15402286T>CCA345882425NBASc.1050A>G
n.2966A>G
c.2953A>G (p.Ile985Val)
c.245A>G
c.94A>G (p.Ile32Val)
c.96A>G
n.2997A>G
c.2824A>G (p.Ile942Val)
c.2314A>G (p.Ile772Val)
c.754A>G (p.Ile252Val)
c.745A>G (p.Ile249Val)
n.2983A>G
2g.15402286T>GCA345882428NBASc.1050A>C
n.2966A>C
c.2953A>C (p.Ile985Leu)
c.245A>C
c.94A>C (p.Ile32Leu)
c.96A>C
n.2997A>C
c.2824A>C (p.Ile942Leu)
c.2314A>C (p.Ile772Leu)
c.754A>C (p.Ile252Leu)
c.745A>C (p.Ile249Leu)
n.2983A>C
2g.15402287A>CCA345882431NBASc.1049T>G
n.2965T>G
c.2952T>G (p.Ile984Met)
c.244T>G
c.93T>G (p.Ile31Met)
c.95T>G
n.2996T>G
c.2823T>G (p.Ile941Met)
c.2313T>G (p.Ile771Met)
c.753T>G (p.Ile251Met)
c.744T>G (p.Ile248Met)
n.2982T>G
2g.15402287A>GCA424868987NBASc.1049T>C
n.2965T>C
c.2952T>C (p.Ile984=)
c.244T>C
c.93T>C (p.Ile31=)
c.95T>C
n.2996T>C
c.2823T>C (p.Ile941=)
c.2313T>C (p.Ile771=)
c.753T>C (p.Ile251=)
c.744T>C (p.Ile248=)
n.2982T>C
2g.15402287A>TCA424868988NBASc.1049T>A
n.2965T>A
c.2952T>A (p.Ile984=)
c.244T>A
c.93T>A (p.Ile31=)
c.95T>A
n.2996T>A
c.2823T>A (p.Ile941=)
c.2313T>A (p.Ile771=)
c.753T>A (p.Ile251=)
c.744T>A (p.Ile248=)
n.2982T>A
2g.15402288A=CA2490879632NBASc.1048T=
n.2964T=
c.2951T= (p.Ile984=)
c.243T=
c.92T= (p.Ile31=)
c.94T=
n.2995T=
c.2822T= (p.Ile941=)
c.2312T= (p.Ile771=)
c.752T= (p.Ile251=)
c.743T= (p.Ile248=)
n.2981T=
2g.15402288A>CCA42621763NBASc.1048T>G
n.2964T>G
c.2951T>G (p.Ile984Ser)
c.243T>G
c.92T>G (p.Ile31Ser)
c.94T>G
n.2995T>G
c.2822T>G (p.Ile941Ser)
c.2312T>G (p.Ile771Ser)
c.752T>G (p.Ile251Ser)
c.743T>G (p.Ile248Ser)
n.2981T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15402288A>GCA345882435NBASc.1048T>C
n.2964T>C
c.2951T>C (p.Ile984Thr)
c.243T>C
c.92T>C (p.Ile31Thr)
c.94T>C
n.2995T>C
c.2822T>C (p.Ile941Thr)
c.2312T>C (p.Ile771Thr)
c.752T>C (p.Ile251Thr)
c.743T>C (p.Ile248Thr)
n.2981T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15402288A>TCA345882433NBASc.1048T>A
n.2964T>A
c.2951T>A (p.Ile984Asn)
c.243T>A
c.92T>A (p.Ile31Asn)
c.94T>A
n.2995T>A
c.2822T>A (p.Ile941Asn)
c.2312T>A (p.Ile771Asn)
c.752T>A (p.Ile251Asn)
c.743T>A (p.Ile248Asn)
n.2981T>A
2g.15402288_15402289delinsATCA2490879631NBASc.1047_1048delinsAT
n.2963_2964delinsAT
c.2950_2951delinsAT (p.Ile984=)
c.242_243delinsAT
c.91_92delinsAT (p.Ile31=)
c.93_94delinsAT
n.2994_2995delinsAT
c.2821_2822delinsAT (p.Ile941=)
c.2311_2312delinsAT (p.Ile771=)
c.751_752delinsAT (p.Ile251=)
c.742_743delinsAT (p.Ile248=)
n.2980_2981delinsAT
2g.15402289T>ACA345882439NBASc.1047A>T
n.2963A>T
c.2950A>T (p.Ile984Phe)
c.242A>T
c.91A>T (p.Ile31Phe)
c.93A>T
n.2994A>T
c.2821A>T (p.Ile941Phe)
c.2311A>T (p.Ile771Phe)
c.751A>T (p.Ile251Phe)
c.742A>T (p.Ile248Phe)
n.2980A>T
2g.15402289T>CCA345882442NBASc.1047A>G
n.2963A>G
c.2950A>G (p.Ile984Val)
c.242A>G
c.91A>G (p.Ile31Val)
c.93A>G
n.2994A>G
c.2821A>G (p.Ile941Val)
c.2311A>G (p.Ile771Val)
c.751A>G (p.Ile251Val)
c.742A>G (p.Ile248Val)
n.2980A>G
gnomAD v4 COSMIC
2g.15402289T>GCA345882444NBASc.1047A>C
n.2963A>C
c.2950A>C (p.Ile984Leu)
c.242A>C
c.91A>C (p.Ile31Leu)
c.93A>C
n.2994A>C
c.2821A>C (p.Ile941Leu)
c.2311A>C (p.Ile771Leu)
c.751A>C (p.Ile251Leu)
c.742A>C (p.Ile248Leu)
n.2980A>C
2g.15402294dupCA759056093NBASc.1047dup
n.2963dup
c.2950dup (p.Ile984AsnfsTer4)
c.242dup
c.91dup (p.Ile31AsnfsTer4)
c.93dup
n.2994dup
c.2821dup (p.Ile941AsnfsTer4)
c.2311dup (p.Ile771AsnfsTer4)
c.751dup (p.Ile251AsnfsTer4)
c.742dup (p.Ile248AsnfsTer4)
n.2980dup
dbSNP gnomAD v3 gnomAD v4
2g.15402294delCA1536205NBASc.1047del
n.2963del
c.2950del (p.Ile984LeufsTer8)
c.242del
c.91del (p.Ile31LeufsTer8)
c.93del
n.2994del
c.2821del (p.Ile941LeufsTer8)
c.2311del (p.Ile771LeufsTer8)
c.751del (p.Ile251LeufsTer8)
c.742del (p.Ile248LeufsTer8)
n.2980del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15402290T>ACA345882451NBASc.1046A>T
n.2962A>T
c.2949A>T (p.Lys983Asn)
c.241A>T
c.90A>T (p.Lys30Asn)
c.92A>T
n.2993A>T
c.2820A>T (p.Lys940Asn)
c.2310A>T (p.Lys770Asn)
c.750A>T (p.Lys250Asn)
c.741A>T (p.Lys247Asn)
n.2979A>T
2g.15402290T>CCA424868989NBASc.1046A>G
n.2962A>G
c.2949A>G (p.Lys983=)
c.241A>G
c.90A>G (p.Lys30=)
c.92A>G
n.2993A>G
c.2820A>G (p.Lys940=)
c.2310A>G (p.Lys770=)
c.750A>G (p.Lys250=)
c.741A>G (p.Lys247=)
n.2979A>G
2g.15402290T>GCA345882453NBASc.1046A>C
n.2962A>C
c.2949A>C (p.Lys983Asn)
c.241A>C
c.90A>C (p.Lys30Asn)
c.92A>C
n.2993A>C
c.2820A>C (p.Lys940Asn)
c.2310A>C (p.Lys770Asn)
c.750A>C (p.Lys250Asn)
c.741A>C (p.Lys247Asn)
n.2979A>C
2g.15402291T>ACA345882454NBASc.1045A>T
n.2961A>T
c.2948A>T (p.Lys983Ile)
c.240A>T
c.89A>T (p.Lys30Ile)
c.91A>T
n.2992A>T
c.2819A>T (p.Lys940Ile)
c.2309A>T (p.Lys770Ile)
c.749A>T (p.Lys250Ile)
c.740A>T (p.Lys247Ile)
n.2978A>T
2g.15402291T>CCA345882455NBASc.1045A>G
n.2961A>G
c.2948A>G (p.Lys983Arg)
c.240A>G
c.89A>G (p.Lys30Arg)
c.91A>G
n.2992A>G
c.2819A>G (p.Lys940Arg)
c.2309A>G (p.Lys770Arg)
c.749A>G (p.Lys250Arg)
c.740A>G (p.Lys247Arg)
n.2978A>G
2g.15402291T>GCA345882456NBASc.1045A>C
n.2961A>C
c.2948A>C (p.Lys983Thr)
c.240A>C
c.89A>C (p.Lys30Thr)
c.91A>C
n.2992A>C
c.2819A>C (p.Lys940Thr)
c.2309A>C (p.Lys770Thr)
c.749A>C (p.Lys250Thr)
c.740A>C (p.Lys247Thr)
n.2978A>C
2g.15402292T>ACA345882457NBASc.1044A>T
n.2960A>T
c.2947A>T (p.Lys983Ter)
c.239A>T
c.88A>T (p.Lys30Ter)
c.90A>T
n.2991A>T
c.2818A>T (p.Lys940Ter)
c.2308A>T (p.Lys770Ter)
c.748A>T (p.Lys250Ter)
c.739A>T (p.Lys247Ter)
n.2977A>T
2g.15402292T>CCA345882459NBASc.1044A>G
n.2960A>G
c.2947A>G (p.Lys983Glu)
c.239A>G
c.88A>G (p.Lys30Glu)
c.90A>G
n.2991A>G
c.2818A>G (p.Lys940Glu)
c.2308A>G (p.Lys770Glu)
c.748A>G (p.Lys250Glu)
c.739A>G (p.Lys247Glu)
n.2977A>G
2g.15402292T>GCA345882461NBASc.1044A>C
n.2960A>C
c.2947A>C (p.Lys983Gln)
c.239A>C
c.88A>C (p.Lys30Gln)
c.90A>C
n.2991A>C
c.2818A>C (p.Lys940Gln)
c.2308A>C (p.Lys770Gln)
c.748A>C (p.Lys250Gln)
c.739A>C (p.Lys247Gln)
n.2977A>C
2g.15402293T>ACA345882463NBASc.1043A>T
n.2959A>T
c.2946A>T (p.Gln982His)
c.238A>T
c.87A>T (p.Gln29His)
c.89A>T
n.2990A>T
c.2817A>T (p.Gln939His)
c.2307A>T (p.Gln769His)
c.747A>T (p.Gln249His)
c.738A>T (p.Gln246His)
n.2976A>T
2g.15402293T>CCA424868990NBASc.1043A>G
n.2959A>G
c.2946A>G (p.Gln982=)
c.238A>G
c.87A>G (p.Gln29=)
c.89A>G
n.2990A>G
c.2817A>G (p.Gln939=)
c.2307A>G (p.Gln769=)
c.747A>G (p.Gln249=)
c.738A>G (p.Gln246=)
n.2976A>G
2g.15402293T>GCA345882465NBASc.1043A>C
n.2959A>C
c.2946A>C (p.Gln982His)
c.238A>C
c.87A>C (p.Gln29His)
c.89A>C
n.2990A>C
c.2817A>C (p.Gln939His)
c.2307A>C (p.Gln769His)
c.747A>C (p.Gln249His)
c.738A>C (p.Gln246His)
n.2976A>C
2g.15402294T>ACA345882468NBASc.1042A>T
n.2958A>T
c.2945A>T (p.Gln982Leu)
c.237A>T
c.86A>T (p.Gln29Leu)
c.88A>T
n.2989A>T
c.2816A>T (p.Gln939Leu)
c.2306A>T (p.Gln769Leu)
c.746A>T (p.Gln249Leu)
c.737A>T (p.Gln246Leu)
n.2975A>T
2g.15402294T>CCA345882469NBASc.1042A>G
n.2958A>G
c.2945A>G (p.Gln982Arg)
c.237A>G
c.86A>G (p.Gln29Arg)
c.88A>G
n.2989A>G
c.2816A>G (p.Gln939Arg)
c.2306A>G (p.Gln769Arg)
c.746A>G (p.Gln249Arg)
c.737A>G (p.Gln246Arg)
n.2975A>G
2g.15402294T>GCA345882471NBASc.1042A>C
n.2958A>C
c.2945A>C (p.Gln982Pro)
c.237A>C
c.86A>C (p.Gln29Pro)
c.88A>C
n.2989A>C
c.2816A>C (p.Gln939Pro)
c.2306A>C (p.Gln769Pro)
c.746A>C (p.Gln249Pro)
c.737A>C (p.Gln246Pro)
n.2975A>C
2g.15402295G>ACA345882475NBASc.1041C>T
n.2957C>T
c.2944C>T (p.Gln982Ter)
c.236C>T
c.85C>T (p.Gln29Ter)
c.87C>T
n.2988C>T
c.2815C>T (p.Gln939Ter)
c.2305C>T (p.Gln769Ter)
c.745C>T (p.Gln249Ter)
c.736C>T (p.Gln246Ter)
n.2974C>T
2g.15402295G>CCA345882476NBASc.1041C>G
n.2957C>G
c.2944C>G (p.Gln982Glu)
c.236C>G
c.85C>G (p.Gln29Glu)
c.87C>G
n.2988C>G
c.2815C>G (p.Gln939Glu)
c.2305C>G (p.Gln769Glu)
c.745C>G (p.Gln249Glu)
c.736C>G (p.Gln246Glu)
n.2974C>G
dbSNP gnomAD v3 gnomAD v4
2g.15402295G=CA2490879633NBASc.1041C=
n.2957C=
c.2944C= (p.Gln982=)
c.236C=
c.85C= (p.Gln29=)
c.87C=
n.2988C=
c.2815C= (p.Gln939=)
c.2305C= (p.Gln769=)
c.745C= (p.Gln249=)
c.736C= (p.Gln246=)
n.2974C=
2g.15402295G>TCA345882478NBASc.1041C>A
n.2957C>A
c.2944C>A (p.Gln982Lys)
c.236C>A
c.85C>A (p.Gln29Lys)
c.87C>A
n.2988C>A
c.2815C>A (p.Gln939Lys)
c.2305C>A (p.Gln769Lys)
c.745C>A (p.Gln249Lys)
c.736C>A (p.Gln246Lys)
n.2974C>A
2g.15402296C>ACA345882484NBASc.1040G>T
n.2956G>T
c.2943G>T (p.Gln981His)
c.235G>T
c.84G>T (p.Gln28His)
c.86G>T
n.2987G>T
c.2814G>T (p.Gln938His)
c.2304G>T (p.Gln768His)
c.744G>T (p.Gln248His)
c.735G>T (p.Gln245His)
n.2973G>T
2g.15402296C>GCA345882481NBASc.1040G>C
n.2956G>C
c.2943G>C (p.Gln981His)
c.235G>C
c.84G>C (p.Gln28His)
c.86G>C
n.2987G>C
c.2814G>C (p.Gln938His)
c.2304G>C (p.Gln768His)
c.744G>C (p.Gln248His)
c.735G>C (p.Gln245His)
n.2973G>C
2g.15402296C>TCA424868991NBASc.1040G>A
n.2956G>A
c.2943G>A (p.Gln981=)
c.235G>A
c.84G>A (p.Gln28=)
c.86G>A
n.2987G>A
c.2814G>A (p.Gln938=)
c.2304G>A (p.Gln768=)
c.744G>A (p.Gln248=)
c.735G>A (p.Gln245=)
n.2973G>A

Number of alleles fetched