Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53243345A>CCA413153407IQSEC2c.3035T>G (p.Val1012Gly)
c.828T>G
c.337T>G
c.166T>G
c.2876T>G (p.Val959Gly)
n.627T>G
c.2846T>G (p.Val949Gly)
c.2261T>G (p.Val754Gly)
c.2972T>G (p.Val991Gly)
c.2198T>G (p.Val733Gly)
c.2165T>G (p.Val722Gly)
n.3199T>G
c.2378T>G (p.Val793Gly)
n.3193T>G
Xg.53243345A>GCA413153420IQSEC2c.3035T>C (p.Val1012Ala)
c.828T>C
c.337T>C
c.166T>C
c.2876T>C (p.Val959Ala)
n.627T>C
c.2846T>C (p.Val949Ala)
c.2261T>C (p.Val754Ala)
c.2972T>C (p.Val991Ala)
c.2198T>C (p.Val733Ala)
c.2165T>C (p.Val722Ala)
n.3199T>C
c.2378T>C (p.Val793Ala)
n.3193T>C
Xg.53243345A>TCA413153423IQSEC2c.3035T>A (p.Val1012Asp)
c.828T>A
c.337T>A
c.166T>A
c.2876T>A (p.Val959Asp)
n.627T>A
c.2846T>A (p.Val949Asp)
c.2261T>A (p.Val754Asp)
c.2972T>A (p.Val991Asp)
c.2198T>A (p.Val733Asp)
c.2165T>A (p.Val722Asp)
n.3199T>A
c.2378T>A (p.Val793Asp)
n.3193T>A
Xg.53243346C>ACA413153427IQSEC2c.3034G>T (p.Val1012Phe)
c.827G>T
c.336G>T
c.165G>T
c.2875G>T (p.Val959Phe)
n.626G>T
c.2845G>T (p.Val949Phe)
c.2260G>T (p.Val754Phe)
c.2971G>T (p.Val991Phe)
c.2197G>T (p.Val733Phe)
c.2164G>T (p.Val722Phe)
n.3198G>T
c.2377G>T (p.Val793Phe)
n.3192G>T
Xg.53243346C>GCA413153429IQSEC2c.3034G>C (p.Val1012Leu)
c.827G>C
c.336G>C
c.165G>C
c.2875G>C (p.Val959Leu)
n.626G>C
c.2845G>C (p.Val949Leu)
c.2260G>C (p.Val754Leu)
c.2971G>C (p.Val991Leu)
c.2197G>C (p.Val733Leu)
c.2164G>C (p.Val722Leu)
n.3198G>C
c.2377G>C (p.Val793Leu)
n.3192G>C
Xg.53243346C>TCA413153433IQSEC2c.3034G>A (p.Val1012Ile)
c.827G>A
c.336G>A
c.165G>A
c.2875G>A (p.Val959Ile)
n.626G>A
c.2845G>A (p.Val949Ile)
c.2260G>A (p.Val754Ile)
c.2971G>A (p.Val991Ile)
c.2197G>A (p.Val733Ile)
c.2164G>A (p.Val722Ile)
n.3198G>A
c.2377G>A (p.Val793Ile)
n.3192G>A
Xg.53243347A>CCA413153436IQSEC2c.3033T>G (p.Ile1011Met)
c.826T>G
c.335T>G
c.164T>G
c.2874T>G (p.Ile958Met)
n.625T>G
c.2844T>G (p.Ile948Met)
c.2259T>G (p.Ile753Met)
c.2970T>G (p.Ile990Met)
c.2196T>G (p.Ile732Met)
c.2163T>G (p.Ile721Met)
n.3197T>G
c.2376T>G (p.Ile792Met)
n.3191T>G
Xg.53243347A>GCA516426172IQSEC2c.3033T>C (p.Ile1011=)
c.826T>C
c.335T>C
c.164T>C
c.2874T>C (p.Ile958=)
n.625T>C
c.2844T>C (p.Ile948=)
c.2259T>C (p.Ile753=)
c.2970T>C (p.Ile990=)
c.2196T>C (p.Ile732=)
c.2163T>C (p.Ile721=)
n.3197T>C
c.2376T>C (p.Ile792=)
n.3191T>C
 gnomAD v4
Xg.53243347A>TCA516426174IQSEC2c.3033T>A (p.Ile1011=)
c.826T>A
c.335T>A
c.164T>A
c.2874T>A (p.Ile958=)
n.625T>A
c.2844T>A (p.Ile948=)
c.2259T>A (p.Ile753=)
c.2970T>A (p.Ile990=)
c.2196T>A (p.Ile732=)
c.2163T>A (p.Ile721=)
n.3197T>A
c.2376T>A (p.Ile792=)
n.3191T>A
 gnomAD v2 gnomAD v4
Xg.53243348A>CCA413153442IQSEC2c.3032T>G (p.Ile1011Ser)
c.825T>G
c.334T>G
c.163T>G
c.2873T>G (p.Ile958Ser)
n.624T>G
c.2843T>G (p.Ile948Ser)
c.2258T>G (p.Ile753Ser)
c.2969T>G (p.Ile990Ser)
c.2195T>G (p.Ile732Ser)
c.2162T>G (p.Ile721Ser)
n.3196T>G
c.2375T>G (p.Ile792Ser)
n.3190T>G
Xg.53243348A>GCA413153443IQSEC2c.3032T>C (p.Ile1011Thr)
c.825T>C
c.334T>C
c.163T>C
c.2873T>C (p.Ile958Thr)
n.624T>C
c.2843T>C (p.Ile948Thr)
c.2258T>C (p.Ile753Thr)
c.2969T>C (p.Ile990Thr)
c.2195T>C (p.Ile732Thr)
c.2162T>C (p.Ile721Thr)
n.3196T>C
c.2375T>C (p.Ile792Thr)
n.3190T>C
 ClinVar
Xg.53243348A>TCA413153447IQSEC2c.3032T>A (p.Ile1011Asn)
c.825T>A
c.334T>A
c.163T>A
c.2873T>A (p.Ile958Asn)
n.624T>A
c.2843T>A (p.Ile948Asn)
c.2258T>A (p.Ile753Asn)
c.2969T>A (p.Ile990Asn)
c.2195T>A (p.Ile732Asn)
c.2162T>A (p.Ile721Asn)
n.3196T>A
c.2375T>A (p.Ile792Asn)
n.3190T>A
Xg.53243349T>ACA413153450IQSEC2c.3031A>T (p.Ile1011Phe)
c.824A>T
c.333A>T
c.162A>T
c.2872A>T (p.Ile958Phe)
n.623A>T
c.2842A>T (p.Ile948Phe)
c.2257A>T (p.Ile753Phe)
c.2968A>T (p.Ile990Phe)
c.2194A>T (p.Ile732Phe)
c.2161A>T (p.Ile721Phe)
n.3195A>T
c.2374A>T (p.Ile792Phe)
n.3189A>T
Xg.53243349T>CCA413153454IQSEC2c.3031A>G (p.Ile1011Val)
c.824A>G
c.333A>G
c.162A>G
c.2872A>G (p.Ile958Val)
n.623A>G
c.2842A>G (p.Ile948Val)
c.2257A>G (p.Ile753Val)
c.2968A>G (p.Ile990Val)
c.2194A>G (p.Ile732Val)
c.2161A>G (p.Ile721Val)
n.3195A>G
c.2374A>G (p.Ile792Val)
n.3189A>G
Xg.53243349T>GCA413153457IQSEC2c.3031A>C (p.Ile1011Leu)
c.824A>C
c.333A>C
c.162A>C
c.2872A>C (p.Ile958Leu)
n.623A>C
c.2842A>C (p.Ile948Leu)
c.2257A>C (p.Ile753Leu)
c.2968A>C (p.Ile990Leu)
c.2194A>C (p.Ile732Leu)
c.2161A>C (p.Ile721Leu)
n.3195A>C
c.2374A>C (p.Ile792Leu)
n.3189A>C
Xg.53243350C>ACA413153467IQSEC2c.3030G>T (p.Met1010Ile)
c.823G>T
c.332G>T
c.161G>T
c.2871G>T (p.Met957Ile)
n.622G>T
c.2841G>T (p.Met947Ile)
c.2256G>T (p.Met752Ile)
c.2967G>T (p.Met989Ile)
c.2193G>T (p.Met731Ile)
c.2160G>T (p.Met720Ile)
n.3194G>T
c.2373G>T (p.Met791Ile)
n.3188G>T
Xg.53243350C>GCA413153464IQSEC2c.3030G>C (p.Met1010Ile)
c.823G>C
c.332G>C
c.161G>C
c.2871G>C (p.Met957Ile)
n.622G>C
c.2841G>C (p.Met947Ile)
c.2256G>C (p.Met752Ile)
c.2967G>C (p.Met989Ile)
c.2193G>C (p.Met731Ile)
c.2160G>C (p.Met720Ile)
n.3194G>C
c.2373G>C (p.Met791Ile)
n.3188G>C
Xg.53243350C>TCA413153461IQSEC2c.3030G>A (p.Met1010Ile)
c.823G>A
c.332G>A
c.161G>A
c.2871G>A (p.Met957Ile)
n.622G>A
c.2841G>A (p.Met947Ile)
c.2256G>A (p.Met752Ile)
c.2967G>A (p.Met989Ile)
c.2193G>A (p.Met731Ile)
c.2160G>A (p.Met720Ile)
n.3194G>A
c.2373G>A (p.Met791Ile)
n.3188G>A
Xg.53243351A>CCA413153471IQSEC2c.3029T>G (p.Met1010Arg)
c.822T>G
c.331T>G
c.160T>G
c.2870T>G (p.Met957Arg)
n.621T>G
c.2840T>G (p.Met947Arg)
c.2255T>G (p.Met752Arg)
c.2966T>G (p.Met989Arg)
c.2192T>G (p.Met731Arg)
c.2159T>G (p.Met720Arg)
n.3193T>G
c.2372T>G (p.Met791Arg)
n.3187T>G
Xg.53243351A>GCA413153473IQSEC2c.3029T>C (p.Met1010Thr)
c.822T>C
c.331T>C
c.160T>C
c.2870T>C (p.Met957Thr)
n.621T>C
c.2840T>C (p.Met947Thr)
c.2255T>C (p.Met752Thr)
c.2966T>C (p.Met989Thr)
c.2192T>C (p.Met731Thr)
c.2159T>C (p.Met720Thr)
n.3193T>C
c.2372T>C (p.Met791Thr)
n.3187T>C
Xg.53243351A>TCA413153476IQSEC2c.3029T>A (p.Met1010Lys)
c.822T>A
c.331T>A
c.160T>A
c.2870T>A (p.Met957Lys)
n.621T>A
c.2840T>A (p.Met947Lys)
c.2255T>A (p.Met752Lys)
c.2966T>A (p.Met989Lys)
c.2192T>A (p.Met731Lys)
c.2159T>A (p.Met720Lys)
n.3193T>A
c.2372T>A (p.Met791Lys)
n.3187T>A
Xg.53243352T>ACA413153480IQSEC2c.3028A>T (p.Met1010Leu)
c.821A>T
c.330A>T
c.159A>T
c.2869A>T (p.Met957Leu)
n.620A>T
c.2839A>T (p.Met947Leu)
c.2254A>T (p.Met752Leu)
c.2965A>T (p.Met989Leu)
c.2191A>T (p.Met731Leu)
c.2158A>T (p.Met720Leu)
n.3192A>T
c.2371A>T (p.Met791Leu)
n.3186A>T
Xg.53243352T>CCA413153482IQSEC2c.3028A>G (p.Met1010Val)
c.821A>G
c.330A>G
c.159A>G
c.2869A>G (p.Met957Val)
n.620A>G
c.2839A>G (p.Met947Val)
c.2254A>G (p.Met752Val)
c.2965A>G (p.Met989Val)
c.2191A>G (p.Met731Val)
c.2158A>G (p.Met720Val)
n.3192A>G
c.2371A>G (p.Met791Val)
n.3186A>G
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.53243352T>GCA413153485IQSEC2c.3028A>C (p.Met1010Leu)
c.821A>C
c.330A>C
c.159A>C
c.2869A>C (p.Met957Leu)
n.620A>C
c.2839A>C (p.Met947Leu)
c.2254A>C (p.Met752Leu)
c.2965A>C (p.Met989Leu)
c.2191A>C (p.Met731Leu)
c.2158A>C (p.Met720Leu)
n.3192A>C
c.2371A>C (p.Met791Leu)
n.3186A>C
 ClinVar dbSNP gnomAD v4
Xg.53243352T=CA2429773350IQSEC2c.3028A= (p.Met1010=)
c.821A=
c.330A=
c.159A=
c.2869A= (p.Met957=)
n.620A=
c.2839A= (p.Met947=)
c.2254A= (p.Met752=)
c.2965A= (p.Met989=)
c.2191A= (p.Met731=)
c.2158A= (p.Met720=)
n.3192A=
c.2371A= (p.Met791=)
n.3186A=
Xg.53243353G>ACA516426188IQSEC2c.3027C>T (p.Arg1009=)
c.820C>T
c.329C>T
c.158C>T
c.2868C>T (p.Arg956=)
n.619C>T
c.2838C>T (p.Arg946=)
c.2253C>T (p.Arg751=)
c.2964C>T (p.Arg988=)
c.2190C>T (p.Arg730=)
c.2157C>T (p.Arg719=)
n.3191C>T
c.2370C>T (p.Arg790=)
n.3185C>T
Xg.53243353G>CCA516426190IQSEC2c.3027C>G (p.Arg1009=)
c.820C>G
c.329C>G
c.158C>G
c.2868C>G (p.Arg956=)
n.619C>G
c.2838C>G (p.Arg946=)
c.2253C>G (p.Arg751=)
c.2964C>G (p.Arg988=)
c.2190C>G (p.Arg730=)
c.2157C>G (p.Arg719=)
n.3191C>G
c.2370C>G (p.Arg790=)
n.3185C>G
Xg.53243353G>TCA516426192IQSEC2c.3027C>A (p.Arg1009=)
c.820C>A
c.329C>A
c.158C>A
c.2868C>A (p.Arg956=)
n.619C>A
c.2838C>A (p.Arg946=)
c.2253C>A (p.Arg751=)
c.2964C>A (p.Arg988=)
c.2190C>A (p.Arg730=)
c.2157C>A (p.Arg719=)
n.3191C>A
c.2370C>A (p.Arg790=)
n.3185C>A
Xg.53243354C>ACA413153489IQSEC2c.3026G>T (p.Arg1009Leu)
c.819G>T
c.328G>T
c.157G>T
c.2867G>T (p.Arg956Leu)
n.618G>T
c.2837G>T (p.Arg946Leu)
c.2252G>T (p.Arg751Leu)
c.2963G>T (p.Arg988Leu)
c.2189G>T (p.Arg730Leu)
c.2156G>T (p.Arg719Leu)
n.3190G>T
c.2369G>T (p.Arg790Leu)
n.3184G>T
Xg.53243354C=CA2429773351IQSEC2c.3026G= (p.Arg1009=)
c.819G=
c.328G=
c.157G=
c.2867G= (p.Arg956=)
n.618G=
c.2837G= (p.Arg946=)
c.2252G= (p.Arg751=)
c.2963G= (p.Arg988=)
c.2189G= (p.Arg730=)
c.2156G= (p.Arg719=)
n.3190G=
c.2369G= (p.Arg790=)
n.3184G=
Xg.53243354C>GCA413153492IQSEC2c.3026G>C (p.Arg1009Pro)
c.819G>C
c.328G>C
c.157G>C
c.2867G>C (p.Arg956Pro)
n.618G>C
c.2837G>C (p.Arg946Pro)
c.2252G>C (p.Arg751Pro)
c.2963G>C (p.Arg988Pro)
c.2189G>C (p.Arg730Pro)
c.2156G>C (p.Arg719Pro)
n.3190G>C
c.2369G>C (p.Arg790Pro)
n.3184G>C
Xg.53243354C>TCA413153496IQSEC2c.3026G>A (p.Arg1009His)
c.819G>A
c.328G>A
c.157G>A
c.2867G>A (p.Arg956His)
n.618G>A
c.2837G>A (p.Arg946His)
c.2252G>A (p.Arg751His)
c.2963G>A (p.Arg988His)
c.2189G>A (p.Arg730His)
c.2156G>A (p.Arg719His)
n.3190G>A
c.2369G>A (p.Arg790His)
n.3184G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53243355G>ACA413153498IQSEC2c.3025C>T (p.Arg1009Cys)
c.818C>T
c.327C>T
c.156C>T
c.2866C>T (p.Arg956Cys)
n.617C>T
c.2836C>T (p.Arg946Cys)
c.2251C>T (p.Arg751Cys)
c.2962C>T (p.Arg988Cys)
c.2188C>T (p.Arg730Cys)
c.2155C>T (p.Arg719Cys)
n.3189C>T
c.2368C>T (p.Arg790Cys)
n.3183C>T
 ClinVar dbSNP gnomAD v4
Xg.53243355G>CCA413153499IQSEC2c.3025C>G (p.Arg1009Gly)
c.818C>G
c.327C>G
c.156C>G
c.2866C>G (p.Arg956Gly)
n.617C>G
c.2836C>G (p.Arg946Gly)
c.2251C>G (p.Arg751Gly)
c.2962C>G (p.Arg988Gly)
c.2188C>G (p.Arg730Gly)
c.2155C>G (p.Arg719Gly)
n.3189C>G
c.2368C>G (p.Arg790Gly)
n.3183C>G
Xg.53243355G>TCA413153502IQSEC2c.3025C>A (p.Arg1009Ser)
c.818C>A
c.327C>A
c.156C>A
c.2866C>A (p.Arg956Ser)
n.617C>A
c.2836C>A (p.Arg946Ser)
c.2251C>A (p.Arg751Ser)
c.2962C>A (p.Arg988Ser)
c.2188C>A (p.Arg730Ser)
c.2155C>A (p.Arg719Ser)
n.3189C>A
c.2368C>A (p.Arg790Ser)
n.3183C>A
Xg.53243356C>ACA413153506IQSEC2c.3024G>T (p.Glu1008Asp)
c.817G>T
c.326G>T
c.155G>T
c.2865G>T (p.Glu955Asp)
n.616G>T
c.2835G>T (p.Glu945Asp)
c.2250G>T (p.Glu750Asp)
c.2961G>T (p.Glu987Asp)
c.2187G>T (p.Glu729Asp)
c.2154G>T (p.Glu718Asp)
n.3188G>T
c.2367G>T (p.Glu789Asp)
n.3182G>T
Xg.53243356C>GCA413153509IQSEC2c.3024G>C (p.Glu1008Asp)
c.817G>C
c.326G>C
c.155G>C
c.2865G>C (p.Glu955Asp)
n.616G>C
c.2835G>C (p.Glu945Asp)
c.2250G>C (p.Glu750Asp)
c.2961G>C (p.Glu987Asp)
c.2187G>C (p.Glu729Asp)
c.2154G>C (p.Glu718Asp)
n.3188G>C
c.2367G>C (p.Glu789Asp)
n.3182G>C
Xg.53243356C>TCA516426200IQSEC2c.3024G>A (p.Glu1008=)
c.817G>A
c.326G>A
c.155G>A
c.2865G>A (p.Glu955=)
n.616G>A
c.2835G>A (p.Glu945=)
c.2250G>A (p.Glu750=)
c.2961G>A (p.Glu987=)
c.2187G>A (p.Glu729=)
c.2154G>A (p.Glu718=)
n.3188G>A
c.2367G>A (p.Glu789=)
n.3182G>A
 dbSNP
Xg.53243357T>ACA413153515IQSEC2c.3023A>T (p.Glu1008Val)
c.816A>T
c.325A>T
c.154A>T
c.2864A>T (p.Glu955Val)
n.615A>T
c.2834A>T (p.Glu945Val)
c.2249A>T (p.Glu750Val)
c.2960A>T (p.Glu987Val)
c.2186A>T (p.Glu729Val)
c.2153A>T (p.Glu718Val)
n.3187A>T
c.2366A>T (p.Glu789Val)
n.3181A>T
Xg.53243357T>CCA413153518IQSEC2c.3023A>G (p.Glu1008Gly)
c.816A>G
c.325A>G
c.154A>G
c.2864A>G (p.Glu955Gly)
n.615A>G
c.2834A>G (p.Glu945Gly)
c.2249A>G (p.Glu750Gly)
c.2960A>G (p.Glu987Gly)
c.2186A>G (p.Glu729Gly)
c.2153A>G (p.Glu718Gly)
n.3187A>G
c.2366A>G (p.Glu789Gly)
n.3181A>G
Xg.53243357T>GCA413153512IQSEC2c.3023A>C (p.Glu1008Ala)
c.816A>C
c.325A>C
c.154A>C
c.2864A>C (p.Glu955Ala)
n.615A>C
c.2834A>C (p.Glu945Ala)
c.2249A>C (p.Glu750Ala)
c.2960A>C (p.Glu987Ala)
c.2186A>C (p.Glu729Ala)
c.2153A>C (p.Glu718Ala)
n.3187A>C
c.2366A>C (p.Glu789Ala)
n.3181A>C
Xg.53243358C>ACA413153522IQSEC2c.3022G>T (p.Glu1008Ter)
c.815G>T
c.324G>T
c.153G>T
c.2863G>T (p.Glu955Ter)
n.614G>T
c.2833G>T (p.Glu945Ter)
c.2248G>T (p.Glu750Ter)
c.2959G>T (p.Glu987Ter)
c.2185G>T (p.Glu729Ter)
c.2152G>T (p.Glu718Ter)
n.3186G>T
c.2365G>T (p.Glu789Ter)
n.3180G>T
Xg.53243358C>GCA413153525IQSEC2c.3022G>C (p.Glu1008Gln)
c.815G>C
c.324G>C
c.153G>C
c.2863G>C (p.Glu955Gln)
n.614G>C
c.2833G>C (p.Glu945Gln)
c.2248G>C (p.Glu750Gln)
c.2959G>C (p.Glu987Gln)
c.2185G>C (p.Glu729Gln)
c.2152G>C (p.Glu718Gln)
n.3186G>C
c.2365G>C (p.Glu789Gln)
n.3180G>C
Xg.53243358C>TCA413153527IQSEC2c.3022G>A (p.Glu1008Lys)
c.815G>A
c.324G>A
c.153G>A
c.2863G>A (p.Glu955Lys)
n.614G>A
c.2833G>A (p.Glu945Lys)
c.2248G>A (p.Glu750Lys)
c.2959G>A (p.Glu987Lys)
c.2185G>A (p.Glu729Lys)
c.2152G>A (p.Glu718Lys)
n.3186G>A
c.2365G>A (p.Glu789Lys)
n.3180G>A
Xg.53243359C>ACA516426217IQSEC2c.3021G>T (p.Val1007=)
c.814G>T
c.323G>T
c.152G>T
c.2862G>T (p.Val954=)
n.613G>T
c.2832G>T (p.Val944=)
c.2247G>T (p.Val749=)
c.2958G>T (p.Val986=)
c.2184G>T (p.Val728=)
c.2151G>T (p.Val717=)
n.3185G>T
c.2364G>T (p.Val788=)
n.3179G>T
Xg.53243359C>GCA516426216IQSEC2c.3021G>C (p.Val1007=)
c.814G>C
c.323G>C
c.152G>C
c.2862G>C (p.Val954=)
n.613G>C
c.2832G>C (p.Val944=)
c.2247G>C (p.Val749=)
c.2958G>C (p.Val986=)
c.2184G>C (p.Val728=)
c.2151G>C (p.Val717=)
n.3185G>C
c.2364G>C (p.Val788=)
n.3179G>C
Xg.53243359C>TCA516426215IQSEC2c.3021G>A (p.Val1007=)
c.814G>A
c.323G>A
c.152G>A
c.2862G>A (p.Val954=)
n.613G>A
c.2832G>A (p.Val944=)
c.2247G>A (p.Val749=)
c.2958G>A (p.Val986=)
c.2184G>A (p.Val728=)
c.2151G>A (p.Val717=)
n.3185G>A
c.2364G>A (p.Val788=)
n.3179G>A
Xg.53243360A>CCA413153531IQSEC2c.3020T>G (p.Val1007Gly)
c.813T>G
c.322T>G
c.151T>G
c.2861T>G (p.Val954Gly)
n.612T>G
c.2831T>G (p.Val944Gly)
c.2246T>G (p.Val749Gly)
c.2957T>G (p.Val986Gly)
c.2183T>G (p.Val728Gly)
c.2150T>G (p.Val717Gly)
n.3184T>G
c.2363T>G (p.Val788Gly)
n.3178T>G
Xg.53243360A>GCA413153534IQSEC2c.3020T>C (p.Val1007Ala)
c.813T>C
c.322T>C
c.151T>C
c.2861T>C (p.Val954Ala)
n.612T>C
c.2831T>C (p.Val944Ala)
c.2246T>C (p.Val749Ala)
c.2957T>C (p.Val986Ala)
c.2183T>C (p.Val728Ala)
c.2150T>C (p.Val717Ala)
n.3184T>C
c.2363T>C (p.Val788Ala)
n.3178T>C
Xg.53243360A>TCA413153538IQSEC2c.3020T>A (p.Val1007Glu)
c.813T>A
c.322T>A
c.151T>A
c.2861T>A (p.Val954Glu)
n.612T>A
c.2831T>A (p.Val944Glu)
c.2246T>A (p.Val749Glu)
c.2957T>A (p.Val986Glu)
c.2183T>A (p.Val728Glu)
c.2150T>A (p.Val717Glu)
n.3184T>A
c.2363T>A (p.Val788Glu)
n.3178T>A

Number of alleles fetched