Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53382230A>C | CA413243219 | SMC1A | c.3437+2T>G (n.3437+2T>G) c.2669+2T>G (n.2669+2T>G) c.3371+2T>G (n.3371+2T>G) n.295T>G c.727+2T>G | |
X | g.53382230A>G | CA413243218 | SMC1A | c.3437+2T>C (n.3437+2T>C) c.2669+2T>C (n.2669+2T>C) c.3371+2T>C (n.3371+2T>C) n.295T>C c.727+2T>C | COSMIC |
X | g.53382230A>T | CA413243217 | SMC1A | c.3437+2T>A (n.3437+2T>A) c.2669+2T>A (n.2669+2T>A) c.3371+2T>A (n.3371+2T>A) n.295T>A c.727+2T>A | |
X | g.53382231C>A | CA413243220 | SMC1A | c.3437+1G>T (n.3437+1G>T) c.2669+1G>T (n.2669+1G>T) c.3371+1G>T (n.3371+1G>T) n.294G>T c.727+1G>T | |
X | g.53382231C>G | CA413243221 | SMC1A | c.3437+1G>C (n.3437+1G>C) c.2669+1G>C (n.2669+1G>C) c.3371+1G>C (n.3371+1G>C) n.294G>C c.727+1G>C | |
X | g.53382231C>T | CA413243222 | SMC1A | c.3437+1G>A (n.3437+1G>A) c.2669+1G>A (n.2669+1G>A) c.3371+1G>A (n.3371+1G>A) n.294G>A c.727+1G>A | ClinVar dbSNP |
X | g.53382232C>A | CA413243223 | SMC1A | c.3437G>T (p.Ser1146Ile) c.2669G>T (p.Ser890Ile) c.3371G>T (p.Ser1124Ile) n.293G>T c.727G>T | |
X | g.53382232C>G | CA413243224 | SMC1A | c.3437G>C (p.Ser1146Thr) c.2669G>C (p.Ser890Thr) c.3371G>C (p.Ser1124Thr) n.293G>C c.727G>C | |
X | g.53382232C>T | CA413243225 | SMC1A | c.3437G>A (p.Ser1146Asn) c.2669G>A (p.Ser890Asn) c.3371G>A (p.Ser1124Asn) n.293G>A c.727G>A | |
X | g.53382233T>A | CA413243226 | SMC1A | c.3436A>T (p.Ser1146Cys) c.2668A>T (p.Ser890Cys) c.3370A>T (p.Ser1124Cys) n.292A>T c.726A>T | |
X | g.53382233T>C | CA413243227 | SMC1A | c.3436A>G (p.Ser1146Gly) c.2668A>G (p.Ser890Gly) c.3370A>G (p.Ser1124Gly) n.292A>G c.726A>G | |
X | g.53382233T>G | CA413243228 | SMC1A | c.3436A>C (p.Ser1146Arg) c.2668A>C (p.Ser890Arg) c.3370A>C (p.Ser1124Arg) n.292A>C c.726A>C | ClinVar |
X | g.53382234G>A | CA516687963 | SMC1A | c.3435C>T (p.His1145=) c.2667C>T (p.His889=) c.3369C>T (p.His1123=) n.291C>T c.725C>T | gnomAD v4 |
X | g.53382234G>C | CA413243229 | SMC1A | c.3435C>G (p.His1145Gln) c.2667C>G (p.His889Gln) c.3369C>G (p.His1123Gln) n.291C>G c.725C>G | |
X | g.53382234G>T | CA413243230 | SMC1A | c.3435C>A (p.His1145Gln) c.2667C>A (p.His889Gln) c.3369C>A (p.His1123Gln) n.291C>A c.725C>A | |
X | g.53382235T>A | CA413243233 | SMC1A | c.3434A>T (p.His1145Leu) c.2666A>T (p.His889Leu) c.3368A>T (p.His1123Leu) n.290A>T c.724A>T | |
X | g.53382235T>C | CA413243232 | SMC1A | c.3434A>G (p.His1145Arg) c.2666A>G (p.His889Arg) c.3368A>G (p.His1123Arg) n.290A>G c.724A>G | |
X | g.53382235T>G | CA413243231 | SMC1A | c.3434A>C (p.His1145Pro) c.2666A>C (p.His889Pro) c.3368A>C (p.His1123Pro) n.290A>C c.724A>C | |
X | g.53382236G>A | CA413243234 | SMC1A | c.3433C>T (p.His1145Tyr) c.2665C>T (p.His889Tyr) c.3367C>T (p.His1123Tyr) n.289C>T c.723C>T | |
X | g.53382236G>C | CA413243235 | SMC1A | c.3433C>G (p.His1145Asp) c.2665C>G (p.His889Asp) c.3367C>G (p.His1123Asp) n.289C>G c.723C>G | |
X | g.53382236G>T | CA413243236 | SMC1A | c.3433C>A (p.His1145Asn) c.2665C>A (p.His889Asn) c.3367C>A (p.His1123Asn) n.289C>A c.723C>A | |
X | g.53382237G>A | CA516687964 | SMC1A | c.3432C>T (p.Ile1144=) c.2664C>T (p.Ile888=) c.3366C>T (p.Ile1122=) n.288C>T c.722C>T | |
X | g.53382237G>C | CA413243237 | SMC1A | c.3432C>G (p.Ile1144Met) c.2664C>G (p.Ile888Met) c.3366C>G (p.Ile1122Met) n.288C>G c.722C>G | |
X | g.53382237G>T | CA516687965 | SMC1A | c.3432C>A (p.Ile1144=) c.2664C>A (p.Ile888=) c.3366C>A (p.Ile1122=) n.288C>A c.722C>A | |
X | g.53382238A>C | CA413243238 | SMC1A | c.3431T>G (p.Ile1144Ser) c.2663T>G (p.Ile888Ser) c.3365T>G (p.Ile1122Ser) n.287T>G c.721T>G | |
X | g.53382238A>G | CA413243239 | SMC1A | c.3431T>C (p.Ile1144Thr) c.2663T>C (p.Ile888Thr) c.3365T>C (p.Ile1122Thr) n.287T>C c.721T>C | |
X | g.53382238A>T | CA413243240 | SMC1A | c.3431T>A (p.Ile1144Asn) c.2663T>A (p.Ile888Asn) c.3365T>A (p.Ile1122Asn) n.287T>A c.721T>A | |
X | g.53382239T>A | CA413243241 | SMC1A | c.3430A>T (p.Ile1144Phe) c.2662A>T (p.Ile888Phe) c.3364A>T (p.Ile1122Phe) n.286A>T c.720A>T | |
X | g.53382239T>C | CA413243242 | SMC1A | c.3430A>G (p.Ile1144Val) c.2662A>G (p.Ile888Val) c.3364A>G (p.Ile1122Val) n.286A>G c.720A>G | |
X | g.53382239T>G | CA413243243 | SMC1A | c.3430A>C (p.Ile1144Leu) c.2662A>C (p.Ile888Leu) c.3364A>C (p.Ile1122Leu) n.286A>C c.720A>C | |
X | g.53382240G>A | CA516687966 | SMC1A | c.3429C>T (p.Ala1143=) c.2661C>T (p.Ala887=) c.3363C>T (p.Ala1121=) n.285C>T c.719C>T | |
X | g.53382240G>C | CA516687967 | SMC1A | c.3429C>G (p.Ala1143=) c.2661C>G (p.Ala887=) c.3363C>G (p.Ala1121=) n.285C>G c.719C>G | |
X | g.53382240G>T | CA516687968 | SMC1A | c.3429C>A (p.Ala1143=) c.2661C>A (p.Ala887=) c.3363C>A (p.Ala1121=) n.285C>A c.719C>A | COSMIC |
X | g.53382241G>A | CA413243244 | SMC1A | c.3428C>T (p.Ala1143Val) c.2660C>T (p.Ala887Val) c.3362C>T (p.Ala1121Val) n.284C>T c.718C>T | |
X | g.53382241G>C | CA413243245 | SMC1A | c.3428C>G (p.Ala1143Gly) c.2660C>G (p.Ala887Gly) c.3362C>G (p.Ala1121Gly) n.284C>G c.718C>G | |
X | g.53382241G>T | CA413243246 | SMC1A | c.3428C>A (p.Ala1143Asp) c.2660C>A (p.Ala887Asp) c.3362C>A (p.Ala1121Asp) n.284C>A c.718C>A | |
X | g.53382242C>A | CA413243248 | SMC1A | c.3427G>T (p.Ala1143Ser) c.2659G>T (p.Ala887Ser) c.3361G>T (p.Ala1121Ser) n.283G>T c.717G>T | |
X | g.53382242C>G | CA413243249 | SMC1A | c.3427G>C (p.Ala1143Pro) c.2659G>C (p.Ala887Pro) c.3361G>C (p.Ala1121Pro) n.283G>C c.717G>C | |
X | g.53382242C>T | CA413243247 | SMC1A | c.3427G>A (p.Ala1143Thr) c.2659G>A (p.Ala887Thr) c.3361G>A (p.Ala1121Thr) n.283G>A c.717G>A | |
X | g.53382243A>C | CA413243251 | SMC1A | c.3426T>G (p.Phe1142Leu) c.2658T>G (p.Phe886Leu) c.3360T>G (p.Phe1120Leu) n.282T>G c.716T>G | |
X | g.53382243A>G | CA516687969 | SMC1A | c.3426T>C (p.Phe1142=) c.2658T>C (p.Phe886=) c.3360T>C (p.Phe1120=) n.282T>C c.716T>C | |
X | g.53382243A>T | CA413243250 | SMC1A | c.3426T>A (p.Phe1142Leu) c.2658T>A (p.Phe886Leu) c.3360T>A (p.Phe1120Leu) n.282T>A c.716T>A | |
X | g.53382244A>C | CA413243252 | SMC1A | c.3425T>G (p.Phe1142Cys) c.2657T>G (p.Phe886Cys) c.3359T>G (p.Phe1120Cys) n.281T>G c.715T>G | |
X | g.53382244A>G | CA413243253 | SMC1A | c.3425T>C (p.Phe1142Ser) c.2657T>C (p.Phe886Ser) c.3359T>C (p.Phe1120Ser) n.281T>C c.715T>C | |
X | g.53382244A>T | CA413243254 | SMC1A | c.3425T>A (p.Phe1142Tyr) c.2657T>A (p.Phe886Tyr) c.3359T>A (p.Phe1120Tyr) n.281T>A c.715T>A | |
X | g.53382245A>C | CA413243255 | SMC1A | c.3424T>G (p.Phe1142Val) c.2656T>G (p.Phe886Val) c.3358T>G (p.Phe1120Val) n.280T>G c.714T>G | |
X | g.53382245A>G | CA413243256 | SMC1A | c.3424T>C (p.Phe1142Leu) c.2656T>C (p.Phe886Leu) c.3358T>C (p.Phe1120Leu) n.280T>C c.714T>C | |
X | g.53382245A>T | CA413243257 | SMC1A | c.3424T>A (p.Phe1142Ile) c.2656T>A (p.Phe886Ile) c.3358T>A (p.Phe1120Ile) n.280T>A c.714T>A | |
X | g.53382246G>A | CA516687970 | SMC1A | c.3423C>T (p.Leu1141=) c.2655C>T (p.Leu885=) c.3357C>T (p.Leu1119=) n.279C>T c.713C>T | |
X | g.53382246G>C | CA516687971 | SMC1A | c.3423C>G (p.Leu1141=) c.2655C>G (p.Leu885=) c.3357C>G (p.Leu1119=) n.279C>G c.713C>G | |
X | g.53382246G>T | CA516687972 | SMC1A | c.3423C>A (p.Leu1141=) c.2655C>A (p.Leu885=) c.3357C>A (p.Leu1119=) n.279C>A c.713C>A | |
X | g.53382247A>C | CA413243258 | SMC1A | c.3422T>G (p.Leu1141Arg) c.2654T>G (p.Leu885Arg) c.3356T>G (p.Leu1119Arg) n.278T>G c.712T>G | |
X | g.53382247A>G | CA413243259 | SMC1A | c.3422T>C (p.Leu1141Pro) c.2654T>C (p.Leu885Pro) c.3356T>C (p.Leu1119Pro) n.278T>C c.712T>C | ClinVar |
X | g.53382247A>T | CA413243260 | SMC1A | c.3422T>A (p.Leu1141His) c.2654T>A (p.Leu885His) c.3356T>A (p.Leu1119His) n.278T>A c.712T>A | |
X | g.53382248G>A | CA413243261 | SMC1A | c.3421C>T (p.Leu1141Phe) c.2653C>T (p.Leu885Phe) c.3355C>T (p.Leu1119Phe) n.277C>T c.711C>T | |
X | g.53382248G>C | CA413243262 | SMC1A | c.3421C>G (p.Leu1141Val) c.2653C>G (p.Leu885Val) c.3355C>G (p.Leu1119Val) n.277C>G c.711C>G | |
X | g.53382248G>T | CA413243263 | SMC1A | c.3421C>A (p.Leu1141Ile) c.2653C>A (p.Leu885Ile) c.3355C>A (p.Leu1119Ile) n.277C>A c.711C>A | |
X | g.53382249C>A | CA516687973 | SMC1A | c.3420G>T (p.Leu1140=) c.2652G>T (p.Leu884=) c.3354G>T (p.Leu1118=) n.276G>T c.710G>T | |
X | g.53382249C>G | CA516687974 | SMC1A | c.3420G>C (p.Leu1140=) c.2652G>C (p.Leu884=) c.3354G>C (p.Leu1118=) n.276G>C c.710G>C | |
X | g.53382249C>T | CA516687975 | SMC1A | c.3420G>A (p.Leu1140=) c.2652G>A (p.Leu884=) c.3354G>A (p.Leu1118=) n.276G>A c.710G>A | |
X | g.53382250A>C | CA413243266 | SMC1A | c.3419T>G (p.Leu1140Arg) c.2651T>G (p.Leu884Arg) c.3353T>G (p.Leu1118Arg) n.275T>G c.709T>G | |
X | g.53382250A>G | CA413243264 | SMC1A | c.3419T>C (p.Leu1140Pro) c.2651T>C (p.Leu884Pro) c.3353T>C (p.Leu1118Pro) n.275T>C c.709T>C | |
X | g.53382250A>T | CA413243265 | SMC1A | c.3419T>A (p.Leu1140Gln) c.2651T>A (p.Leu884Gln) c.3353T>A (p.Leu1118Gln) n.275T>A c.709T>A | |
X | g.53382251G>A | CA516687976 | SMC1A | c.3418C>T (p.Leu1140=) c.2650C>T (p.Leu884=) c.3352C>T (p.Leu1118=) n.274C>T c.708C>T | |
X | g.53382251G>C | CA413243267 | SMC1A | c.3418C>G (p.Leu1140Val) c.2650C>G (p.Leu884Val) c.3352C>G (p.Leu1118Val) n.274C>G c.708C>G | |
X | g.53382251G>T | CA413243268 | SMC1A | c.3418C>A (p.Leu1140Met) c.2650C>A (p.Leu884Met) c.3352C>A (p.Leu1118Met) n.274C>A c.708C>A | |
X | g.53382252G>A | CA516687977 | SMC1A | c.3417C>T (p.Ala1139=) c.2649C>T (p.Ala883=) c.3351C>T (p.Ala1117=) n.273C>T c.707C>T | gnomAD v4 |
X | g.53382252G>C | CA10420300 | SMC1A | c.3417C>G (p.Ala1139=) c.2649C>G (p.Ala883=) c.3351C>G (p.Ala1117=) n.273C>G c.707C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53382252G= | CA2429817405 | SMC1A | c.3417C= (p.Ala1139=) c.2649C= (p.Ala883=) c.3351C= (p.Ala1117=) n.273C= c.707C= | |
X | g.53382252G>T | CA516687978 | SMC1A | c.3417C>A (p.Ala1139=) c.2649C>A (p.Ala883=) c.3351C>A (p.Ala1117=) n.273C>A c.707C>A | |
X | g.53382253G>A | CA413243269 | SMC1A | c.3416C>T (p.Ala1139Val) c.2648C>T (p.Ala883Val) c.3350C>T (p.Ala1117Val) n.272C>T c.706C>T | |
X | g.53382253G>C | CA413243270 | SMC1A | c.3416C>G (p.Ala1139Gly) c.2648C>G (p.Ala883Gly) c.3350C>G (p.Ala1117Gly) n.272C>G c.706C>G | |
X | g.53382253G>T | CA413243271 | SMC1A | c.3416C>A (p.Ala1139Asp) c.2648C>A (p.Ala883Asp) c.3350C>A (p.Ala1117Asp) n.272C>A c.706C>A | |
X | g.53382254C>A | CA413243272 | SMC1A | c.3415G>T (p.Ala1139Ser) c.2647G>T (p.Ala883Ser) c.3349G>T (p.Ala1117Ser) n.271G>T c.705G>T | |
X | g.53382254C>G | CA413243273 | SMC1A | c.3415G>C (p.Ala1139Pro) c.2647G>C (p.Ala883Pro) c.3349G>C (p.Ala1117Pro) n.271G>C c.705G>C | |
X | g.53382254C>T | CA413243274 | SMC1A | c.3415G>A (p.Ala1139Thr) c.2647G>A (p.Ala883Thr) c.3349G>A (p.Ala1117Thr) n.271G>A c.705G>A | |
X | g.53382255C>A | CA516687979 | SMC1A | c.3414G>T (p.Leu1138=) c.2646G>T (p.Leu882=) c.3348G>T (p.Leu1116=) n.270G>T c.704G>T | |
X | g.53382255C>G | CA516687980 | SMC1A | c.3414G>C (p.Leu1138=) c.2646G>C (p.Leu882=) c.3348G>C (p.Leu1116=) n.270G>C c.704G>C | |
X | g.53382255C>T | CA516687981 | SMC1A | c.3414G>A (p.Leu1138=) c.2646G>A (p.Leu882=) c.3348G>A (p.Leu1116=) n.270G>A c.704G>A | |
X | g.53382256A>C | CA413243275 | SMC1A | c.3413T>G (p.Leu1138Arg) c.2645T>G (p.Leu882Arg) c.3347T>G (p.Leu1116Arg) n.269T>G c.703T>G | |
X | g.53382256A>G | CA413243276 | SMC1A | c.3413T>C (p.Leu1138Pro) c.2645T>C (p.Leu882Pro) c.3347T>C (p.Leu1116Pro) n.269T>C c.703T>C | |
X | g.53382256A>T | CA413243277 | SMC1A | c.3413T>A (p.Leu1138Gln) c.2645T>A (p.Leu882Gln) c.3347T>A (p.Leu1116Gln) n.269T>A c.703T>A | |
X | g.53382257G>A | CA516687982 | SMC1A | c.3412C>T (p.Leu1138=) c.2644C>T (p.Leu882=) c.3346C>T (p.Leu1116=) n.268C>T c.702C>T | |
X | g.53382257G>C | CA413243279 | SMC1A | c.3412C>G (p.Leu1138Val) c.2644C>G (p.Leu882Val) c.3346C>G (p.Leu1116Val) n.268C>G c.702C>G | |
X | g.53382257G>T | CA413243278 | SMC1A | c.3412C>A (p.Leu1138Met) c.2644C>A (p.Leu882Met) c.3346C>A (p.Leu1116Met) n.268C>A c.702C>A | |
X | g.53382258A>C | CA516687983 | SMC1A | c.3411T>G (p.Ala1137=) c.2643T>G (p.Ala881=) c.3345T>G (p.Ala1115=) n.267T>G c.701T>G | |
X | g.53382258A>G | CA516687984 | SMC1A | c.3411T>C (p.Ala1137=) c.2643T>C (p.Ala881=) c.3345T>C (p.Ala1115=) n.267T>C c.701T>C | gnomAD v4 |
X | g.53382258A>T | CA516687985 | SMC1A | c.3411T>A (p.Ala1137=) c.2643T>A (p.Ala881=) c.3345T>A (p.Ala1115=) n.267T>A c.701T>A | |
X | g.53382259G>A | CA413243280 | SMC1A | c.3410C>T (p.Ala1137Val) c.2642C>T (p.Ala881Val) c.3344C>T (p.Ala1115Val) n.266C>T c.700C>T | |
X | g.53382259G>C | CA10420301 | SMC1A | c.3410C>G (p.Ala1137Gly) c.2642C>G (p.Ala881Gly) c.3344C>G (p.Ala1115Gly) n.266C>G c.700C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53382259G= | CA2429817406 | SMC1A | c.3410C= (p.Ala1137=) c.2642C= (p.Ala881=) c.3344C= (p.Ala1115=) n.266C= c.700C= | |
X | g.53382259G>T | CA413243281 | SMC1A | c.3410C>A (p.Ala1137Asp) c.2642C>A (p.Ala881Asp) c.3344C>A (p.Ala1115Asp) n.266C>A c.700C>A | COSMIC |
X | g.53382260C>A | CA413243282 | SMC1A | c.3409G>T (p.Ala1137Ser) c.2641G>T (p.Ala881Ser) c.3343G>T (p.Ala1115Ser) n.265G>T c.699G>T | |
X | g.53382260C>G | CA413243283 | SMC1A | c.3409G>C (p.Ala1137Pro) c.2641G>C (p.Ala881Pro) c.3343G>C (p.Ala1115Pro) n.265G>C c.699G>C | |
X | g.53382260C>T | CA413243284 | SMC1A | c.3409G>A (p.Ala1137Thr) c.2641G>A (p.Ala881Thr) c.3343G>A (p.Ala1115Thr) n.265G>A c.699G>A | |
X | g.53382261T>A | CA516687986 | SMC1A | c.3408A>T (p.Ala1136=) c.2640A>T (p.Ala880=) c.3342A>T (p.Ala1114=) n.264A>T c.698A>T | |
X | g.53382261T>C | CA516687987 | SMC1A | c.3408A>G (p.Ala1136=) c.2640A>G (p.Ala880=) c.3342A>G (p.Ala1114=) n.264A>G c.698A>G | |
X | g.53382261T>G | CA516687988 | SMC1A | c.3408A>C (p.Ala1136=) c.2640A>C (p.Ala880=) c.3342A>C (p.Ala1114=) n.264A>C c.698A>C | |
X | g.53382262G>A | CA413243287 | SMC1A | c.3407C>T (p.Ala1136Val) c.2639C>T (p.Ala880Val) c.3341C>T (p.Ala1114Val) n.263C>T c.697C>T | |
X | g.53382262G>C | CA413243286 | SMC1A | c.3407C>G (p.Ala1136Gly) c.2639C>G (p.Ala880Gly) c.3341C>G (p.Ala1114Gly) n.263C>G c.697C>G | |
X | g.53382262G>T | CA413243285 | SMC1A | c.3407C>A (p.Ala1136Glu) c.2639C>A (p.Ala880Glu) c.3341C>A (p.Ala1114Glu) n.263C>A c.697C>A | |
X | g.53382263C>A | CA413243288 | SMC1A | c.3406G>T (p.Ala1136Ser) c.2638G>T (p.Ala880Ser) c.3340G>T (p.Ala1114Ser) n.262G>T c.696G>T | |
X | g.53382263C>G | CA413243289 | SMC1A | c.3406G>C (p.Ala1136Pro) c.2638G>C (p.Ala880Pro) c.3340G>C (p.Ala1114Pro) n.262G>C c.696G>C | |
X | g.53382263C>T | CA413243290 | SMC1A | c.3406G>A (p.Ala1136Thr) c.2638G>A (p.Ala880Thr) c.3340G>A (p.Ala1114Thr) n.262G>A c.696G>A | |
X | g.53382264C>A | CA516687989 | SMC1A | c.3405G>T (p.Val1135=) c.2637G>T (p.Val879=) c.3339G>T (p.Val1113=) n.261G>T c.695G>T | |
X | g.53382264C>G | CA516687991 | SMC1A | c.3405G>C (p.Val1135=) c.2637G>C (p.Val879=) c.3339G>C (p.Val1113=) n.261G>C c.695G>C | |
X | g.53382264C>T | CA516687990 | SMC1A | c.3405G>A (p.Val1135=) c.2637G>A (p.Val879=) c.3339G>A (p.Val1113=) n.261G>A c.695G>A | |
X | g.53382265A>C | CA413243291 | SMC1A | c.3404T>G (p.Val1135Gly) c.2636T>G (p.Val879Gly) c.3338T>G (p.Val1113Gly) n.260T>G c.694T>G | |
X | g.53382265A>G | CA413243292 | SMC1A | c.3404T>C (p.Val1135Ala) c.2636T>C (p.Val879Ala) c.3338T>C (p.Val1113Ala) n.260T>C c.694T>C | |
X | g.53382265A>T | CA413243293 | SMC1A | c.3404T>A (p.Val1135Glu) c.2636T>A (p.Val879Glu) c.3338T>A (p.Val1113Glu) n.260T>A c.694T>A | |
X | g.53382266C>A | CA413243294 | SMC1A | c.3403G>T (p.Val1135Leu) c.2635G>T (p.Val879Leu) c.3337G>T (p.Val1113Leu) n.259G>T c.693G>T | |
X | g.53382266C>G | CA413243296 | SMC1A | c.3403G>C (p.Val1135Leu) c.2635G>C (p.Val879Leu) c.3337G>C (p.Val1113Leu) n.259G>C c.693G>C | |
X | g.53382266C>T | CA413243295 | SMC1A | c.3403G>A (p.Val1135Met) c.2635G>A (p.Val879Met) c.3337G>A (p.Val1113Met) n.259G>A c.693G>A | |
X | g.53382267T>A | CA516687992 | SMC1A | c.3402A>T (p.Thr1134=) c.2634A>T (p.Thr878=) c.3336A>T (p.Thr1112=) n.258A>T c.692A>T | |
X | g.53382267T>C | CA516687993 | SMC1A | c.3402A>G (p.Thr1134=) c.2634A>G (p.Thr878=) c.3336A>G (p.Thr1112=) n.258A>G c.692A>G | |
X | g.53382267T>G | CA516687994 | SMC1A | c.3402A>C (p.Thr1134=) c.2634A>C (p.Thr878=) c.3336A>C (p.Thr1112=) n.258A>C c.692A>C | |
X | g.53382268G>A | CA413243297 | SMC1A | c.3401C>T (p.Thr1134Ile) c.2633C>T (p.Thr878Ile) c.3335C>T (p.Thr1112Ile) n.257C>T c.691C>T | |
X | g.53382268G>C | CA413243298 | SMC1A | c.3401C>G (p.Thr1134Arg) c.2633C>G (p.Thr878Arg) c.3335C>G (p.Thr1112Arg) n.257C>G c.691C>G | |
X | g.53382268G>T | CA413243299 | SMC1A | c.3401C>A (p.Thr1134Lys) c.2633C>A (p.Thr878Lys) c.3335C>A (p.Thr1112Lys) n.257C>A c.691C>A | |
X | g.53382269T>A | CA413243300 | SMC1A | c.3400A>T (p.Thr1134Ser) c.2632A>T (p.Thr878Ser) c.3334A>T (p.Thr1112Ser) n.256A>T c.690A>T | |
X | g.53382269T>C | CA413243301 | SMC1A | c.3400A>G (p.Thr1134Ala) c.2632A>G (p.Thr878Ala) c.3334A>G (p.Thr1112Ala) n.256A>G c.690A>G | dbSNP |
X | g.53382269T>G | CA413243302 | SMC1A | c.3400A>C (p.Thr1134Pro) c.2632A>C (p.Thr878Pro) c.3334A>C (p.Thr1112Pro) n.256A>C c.690A>C | |
X | g.53382269T= | CA2429817407 | SMC1A | c.3400A= (p.Thr1134=) c.2632A= (p.Thr878=) c.3334A= (p.Thr1112=) n.256A= c.690A= | |
X | g.53382270C>A | CA413243303 | SMC1A | c.3399G>T (p.Lys1133Asn) c.2631G>T (p.Lys877Asn) c.3333G>T (p.Lys1111Asn) n.255G>T c.689G>T | |
X | g.53382270C>G | CA413243304 | SMC1A | c.3399G>C (p.Lys1133Asn) c.2631G>C (p.Lys877Asn) c.3333G>C (p.Lys1111Asn) n.255G>C c.689G>C | |
X | g.53382270C>T | CA516687995 | SMC1A | c.3399G>A (p.Lys1133=) c.2631G>A (p.Lys877=) c.3333G>A (p.Lys1111=) n.255G>A c.689G>A | |
X | g.53382271T>A | CA413243305 | SMC1A | c.3398A>T (p.Lys1133Met) c.2630A>T (p.Lys877Met) c.3332A>T (p.Lys1111Met) n.254A>T c.688A>T | |
X | g.53382271T>C | CA413243306 | SMC1A | c.3398A>G (p.Lys1133Arg) c.2630A>G (p.Lys877Arg) c.3332A>G (p.Lys1111Arg) n.254A>G c.688A>G | gnomAD v4 |
X | g.53382271T>G | CA413243307 | SMC1A | c.3398A>C (p.Lys1133Thr) c.2630A>C (p.Lys877Thr) c.3332A>C (p.Lys1111Thr) n.254A>C c.688A>C | |
X | g.53382272T>A | CA413243310 | SMC1A | c.3397A>T (p.Lys1133Ter) c.2629A>T (p.Lys877Ter) c.3331A>T (p.Lys1111Ter) n.253A>T c.687A>T | |
X | g.53382272T>C | CA413243309 | SMC1A | c.3397A>G (p.Lys1133Glu) c.2629A>G (p.Lys877Glu) c.3331A>G (p.Lys1111Glu) n.253A>G c.687A>G | |
X | g.53382272T>G | CA413243308 | SMC1A | c.3397A>C (p.Lys1133Gln) c.2629A>C (p.Lys877Gln) c.3331A>C (p.Lys1111Gln) n.253A>C c.687A>C | |
X | g.53382273C>A | CA413243311 | SMC1A | c.3396G>T (p.Glu1132Asp) c.2628G>T (p.Glu876Asp) c.3330G>T (p.Glu1110Asp) n.252G>T c.686G>T | |
X | g.53382273C>G | CA413243312 | SMC1A | c.3396G>C (p.Glu1132Asp) c.2628G>C (p.Glu876Asp) c.3330G>C (p.Glu1110Asp) n.252G>C c.686G>C | |
X | g.53382273C>T | CA516687996 | SMC1A | c.3396G>A (p.Glu1132=) c.2628G>A (p.Glu876=) c.3330G>A (p.Glu1110=) n.252G>A c.686G>A | gnomAD v4 |
X | g.53382274T>A | CA413243313 | SMC1A | c.3395A>T (p.Glu1132Val) c.2627A>T (p.Glu876Val) c.3329A>T (p.Glu1110Val) n.251A>T c.685A>T | |
X | g.53382274T>C | CA413243314 | SMC1A | c.3395A>G (p.Glu1132Gly) c.2627A>G (p.Glu876Gly) c.3329A>G (p.Glu1110Gly) n.251A>G c.685A>G | |
X | g.53382274T>G | CA413243315 | SMC1A | c.3395A>C (p.Glu1132Ala) c.2627A>C (p.Glu876Ala) c.3329A>C (p.Glu1110Ala) n.251A>C c.685A>C | |
X | g.53382275C>A | CA413243316 | SMC1A | c.3394G>T (p.Glu1132Ter) c.2626G>T (p.Glu876Ter) c.3328G>T (p.Glu1110Ter) n.250G>T c.684G>T | |
X | g.53382275C>G | CA413243317 | SMC1A | c.3394G>C (p.Glu1132Gln) c.2626G>C (p.Glu876Gln) c.3328G>C (p.Glu1110Gln) n.250G>C c.684G>C | |
X | g.53382275C>T | CA413243318 | SMC1A | c.3394G>A (p.Glu1132Lys) c.2626G>A (p.Glu876Lys) c.3328G>A (p.Glu1110Lys) n.250G>A c.684G>A | |
X | g.53382276C>A | CA516687997 | SMC1A | c.3393G>T (p.Gly1131=) c.2625G>T (p.Gly875=) c.3327G>T (p.Gly1109=) n.249G>T c.683G>T | |
X | g.53382276C>G | CA516687998 | SMC1A | c.3393G>C (p.Gly1131=) c.2625G>C (p.Gly875=) c.3327G>C (p.Gly1109=) n.249G>C c.683G>C | |
X | g.53382276C>T | CA516687999 | SMC1A | c.3393G>A (p.Gly1131=) c.2625G>A (p.Gly875=) c.3327G>A (p.Gly1109=) n.249G>A c.683G>A | COSMIC |
X | g.53382277C>A | CA413243319 | SMC1A | c.3392G>T (p.Gly1131Val) c.2624G>T (p.Gly875Val) c.3326G>T (p.Gly1109Val) n.248G>T c.682G>T | |
X | g.53382277C>G | CA413243320 | SMC1A | c.3392G>C (p.Gly1131Ala) c.2624G>C (p.Gly875Ala) c.3326G>C (p.Gly1109Ala) n.248G>C c.682G>C | |
X | g.53382277C>T | CA413243321 | SMC1A | c.3392G>A (p.Gly1131Glu) c.2624G>A (p.Gly875Glu) c.3326G>A (p.Gly1109Glu) n.248G>A c.682G>A | |
X | g.53382278C>A | CA413243322 | SMC1A | c.3391G>T (p.Gly1131Trp) c.2623G>T (p.Gly875Trp) c.3325G>T (p.Gly1109Trp) n.247G>T c.681G>T | |
X | g.53382278C>G | CA413243323 | SMC1A | c.3391G>C (p.Gly1131Arg) c.2623G>C (p.Gly875Arg) c.3325G>C (p.Gly1109Arg) n.247G>C c.681G>C | |
X | g.53382278C>T | CA413243324 | SMC1A | c.3391G>A (p.Gly1131Arg) c.2623G>A (p.Gly875Arg) c.3325G>A (p.Gly1109Arg) n.247G>A c.681G>A | COSMIC |
X | g.53382279G>A | CA10420302 | SMC1A | c.3390C>T (p.Gly1130=) c.2622C>T (p.Gly874=) c.3324C>T (p.Gly1108=) n.246C>T c.680C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.53382279G>C | CA516688000 | SMC1A | c.3390C>G (p.Gly1130=) c.2622C>G (p.Gly874=) c.3324C>G (p.Gly1108=) n.246C>G c.680C>G | |
X | g.53382279G= | CA2429817408 | SMC1A | c.3390C= (p.Gly1130=) c.2622C= (p.Gly874=) c.3324C= (p.Gly1108=) n.246C= c.680C= | |
X | g.53382279G>T | CA516688001 | SMC1A | c.3390C>A (p.Gly1130=) c.2622C>A (p.Gly874=) c.3324C>A (p.Gly1108=) n.246C>A c.680C>A | |
X | g.53382280C>A | CA413243325 | SMC1A | c.3389G>T (p.Gly1130Val) c.2621G>T (p.Gly874Val) c.3323G>T (p.Gly1108Val) n.245G>T c.679G>T | |
X | g.53382280C>G | CA413243327 | SMC1A | c.3389G>C (p.Gly1130Ala) c.2621G>C (p.Gly874Ala) c.3323G>C (p.Gly1108Ala) n.245G>C c.679G>C | |
X | g.53382280C>T | CA413243326 | SMC1A | c.3389G>A (p.Gly1130Asp) c.2621G>A (p.Gly874Asp) c.3323G>A (p.Gly1108Asp) n.245G>A c.679G>A | |
X | g.53382281C>A | CA413243328 | SMC1A | c.3388G>T (p.Gly1130Cys) c.2620G>T (p.Gly874Cys) c.3322G>T (p.Gly1108Cys) n.244G>T c.678G>T | |
X | g.53382281C>G | CA413243329 | SMC1A | c.3388G>C (p.Gly1130Arg) c.2620G>C (p.Gly874Arg) c.3322G>C (p.Gly1108Arg) n.244G>C c.678G>C | |
X | g.53382281C>T | CA413243330 | SMC1A | c.3388G>A (p.Gly1130Ser) c.2620G>A (p.Gly874Ser) c.3322G>A (p.Gly1108Ser) n.244G>A c.678G>A | |
X | g.53382282T>A | CA516688002 | SMC1A | c.3387A>T (p.Ser1129=) c.2619A>T (p.Ser873=) c.3321A>T (p.Ser1107=) n.243A>T c.677A>T | |
X | g.53382282T>C | CA516688003 | SMC1A | c.3387A>G (p.Ser1129=) c.2619A>G (p.Ser873=) c.3321A>G (p.Ser1107=) n.243A>G c.677A>G | |
X | g.53382282T>G | CA516688004 | SMC1A | c.3387A>C (p.Ser1129=) c.2619A>C (p.Ser873=) c.3321A>C (p.Ser1107=) n.243A>C c.677A>C | |
X | g.53382283G>A | CA413243331 | SMC1A | c.3386C>T (p.Ser1129Leu) c.2618C>T (p.Ser873Leu) c.3320C>T (p.Ser1107Leu) n.242C>T c.676C>T | COSMIC |
X | g.53382283G>C | CA413243332 | SMC1A | c.3386C>G (p.Ser1129Ter) c.2618C>G (p.Ser873Ter) c.3320C>G (p.Ser1107Ter) n.242C>G c.676C>G | |
X | g.53382283G>T | CA413243333 | SMC1A | c.3386C>A (p.Ser1129Ter) c.2618C>A (p.Ser873Ter) c.3320C>A (p.Ser1107Ter) n.242C>A c.676C>A | |
X | g.53382284A>C | CA413243334 | SMC1A | c.3385T>G (p.Ser1129Ala) c.2617T>G (p.Ser873Ala) c.3319T>G (p.Ser1107Ala) n.241T>G c.675T>G | |
X | g.53382284A>G | CA413243335 | SMC1A | c.3385T>C (p.Ser1129Pro) c.2617T>C (p.Ser873Pro) c.3319T>C (p.Ser1107Pro) n.241T>C c.675T>C | |
X | g.53382284A>T | CA413243336 | SMC1A | c.3385T>A (p.Ser1129Thr) c.2617T>A (p.Ser873Thr) c.3319T>A (p.Ser1107Thr) n.241T>A c.675T>A | |
X | g.53382285C>A | CA413243337 | SMC1A | c.3384G>T (p.Leu1128Phe) c.2616G>T (p.Leu872Phe) c.3318G>T (p.Leu1106Phe) n.240G>T c.674G>T | |
X | g.53382285C>G | CA413243338 | SMC1A | c.3384G>C (p.Leu1128Phe) c.2616G>C (p.Leu872Phe) c.3318G>C (p.Leu1106Phe) n.240G>C c.674G>C | |
X | g.53382285C>T | CA516688005 | SMC1A | c.3384G>A (p.Leu1128=) c.2616G>A (p.Leu872=) c.3318G>A (p.Leu1106=) n.240G>A c.674G>A | |
X | g.53382286A>C | CA413243342 | SMC1A | c.3383T>G (p.Leu1128Trp) c.2615T>G (p.Leu872Trp) c.3317T>G (p.Leu1106Trp) n.239T>G c.673T>G | |
X | g.53382286A>G | CA413243340 | SMC1A | c.3383T>C (p.Leu1128Ser) c.2615T>C (p.Leu872Ser) c.3317T>C (p.Leu1106Ser) n.239T>C c.673T>C | |
X | g.53382286A>T | CA413243339 | SMC1A | c.3383T>A (p.Leu1128Ter) c.2615T>A (p.Leu872Ter) c.3317T>A (p.Leu1106Ter) n.239T>A c.673T>A | |
X | g.53382287A>C | CA413243344 | SMC1A | c.3382T>G (p.Leu1128Val) c.2614T>G (p.Leu872Val) c.3316T>G (p.Leu1106Val) n.238T>G c.672T>G | |
X | g.53382287A>G | CA516688006 | SMC1A | c.3382T>C (p.Leu1128=) c.2614T>C (p.Leu872=) c.3316T>C (p.Leu1106=) n.238T>C c.672T>C | |
X | g.53382287A>T | CA413243343 | SMC1A | c.3382T>A (p.Leu1128Met) c.2614T>A (p.Leu872Met) c.3316T>A (p.Leu1106Met) n.238T>A c.672T>A | |
X | g.53382288G>A | CA516688007 | SMC1A | c.3381C>T (p.Asn1127=) c.2613C>T (p.Asn871=) c.3315C>T (p.Asn1105=) n.237C>T c.671C>T | |
X | g.53382288G>C | CA413243345 | SMC1A | c.3381C>G (p.Asn1127Lys) c.2613C>G (p.Asn871Lys) c.3315C>G (p.Asn1105Lys) n.237C>G c.671C>G | |
X | g.53382288G>T | CA413243346 | SMC1A | c.3381C>A (p.Asn1127Lys) c.2613C>A (p.Asn871Lys) c.3315C>A (p.Asn1105Lys) n.237C>A c.671C>A | |
X | g.53382289T>A | CA413243347 | SMC1A | c.3380A>T (p.Asn1127Ile) c.2612A>T (p.Asn871Ile) c.3314A>T (p.Asn1105Ile) n.236A>T c.670A>T | |
X | g.53382289T>C | CA413243348 | SMC1A | c.3380A>G (p.Asn1127Ser) c.2612A>G (p.Asn871Ser) c.3314A>G (p.Asn1105Ser) n.236A>G c.670A>G | |
X | g.53382289T>G | CA413243349 | SMC1A | c.3380A>C (p.Asn1127Thr) c.2612A>C (p.Asn871Thr) c.3314A>C (p.Asn1105Thr) n.236A>C c.670A>C | |
X | g.53382290T>A | CA413243352 | SMC1A | c.3379A>T (p.Asn1127Tyr) c.2611A>T (p.Asn871Tyr) c.3313A>T (p.Asn1105Tyr) n.235A>T c.669A>T | |
X | g.53382290T>C | CA413243350 | SMC1A | c.3379A>G (p.Asn1127Asp) c.2611A>G (p.Asn871Asp) c.3313A>G (p.Asn1105Asp) n.235A>G c.669A>G | |
X | g.53382290T>G | CA413243351 | SMC1A | c.3379A>C (p.Asn1127His) c.2611A>C (p.Asn871His) c.3313A>C (p.Asn1105His) n.235A>C c.669A>C | |
X | g.53382291G>A | CA516688008 | SMC1A | c.3378C>T (p.Asp1126=) c.2610C>T (p.Asp870=) c.3312C>T (p.Asp1104=) n.234C>T c.668C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.53382291G>C | CA413243353 | SMC1A | c.3378C>G (p.Asp1126Glu) c.2610C>G (p.Asp870Glu) c.3312C>G (p.Asp1104Glu) n.234C>G c.668C>G | |
X | g.53382291G= | CA2429817409 | SMC1A | c.3378C= (p.Asp1126=) c.2610C= (p.Asp870=) c.3312C= (p.Asp1104=) n.234C= c.668C= | |
X | g.53382291G>T | CA413243354 | SMC1A | c.3378C>A (p.Asp1126Glu) c.2610C>A (p.Asp870Glu) c.3312C>A (p.Asp1104Glu) n.234C>A c.668C>A | |
X | g.53382292T>A | CA413243356 | SMC1A | c.3377A>T (p.Asp1126Val) c.2609A>T (p.Asp870Val) c.3311A>T (p.Asp1104Val) n.233A>T c.667A>T | |
X | g.53382292T>C | CA413243357 | SMC1A | c.3377A>G (p.Asp1126Gly) c.2609A>G (p.Asp870Gly) c.3311A>G (p.Asp1104Gly) n.233A>G c.667A>G | |
X | g.53382292T>G | CA413243358 | SMC1A | c.3377A>C (p.Asp1126Ala) c.2609A>C (p.Asp870Ala) c.3311A>C (p.Asp1104Ala) n.233A>C c.667A>C | |
X | g.53382293C>A | CA413243359 | SMC1A | c.3376G>T (p.Asp1126Tyr) c.2608G>T (p.Asp870Tyr) c.3310G>T (p.Asp1104Tyr) n.232G>T c.666G>T | |
X | g.53382293C>G | CA413243361 | SMC1A | c.3376G>C (p.Asp1126His) c.2608G>C (p.Asp870His) c.3310G>C (p.Asp1104His) n.232G>C c.666G>C | |
X | g.53382293C>T | CA413243360 | SMC1A | c.3376G>A (p.Asp1126Asn) c.2608G>A (p.Asp870Asn) c.3310G>A (p.Asp1104Asn) n.232G>A c.666G>A | |
X | g.53382294C>A | CA413243362 | SMC1A | c.3375G>T (p.Met1125Ile) c.2607G>T (p.Met869Ile) c.3309G>T (p.Met1103Ile) n.231G>T c.665G>T | |
X | g.53382294C>G | CA413243363 | SMC1A | c.3375G>C (p.Met1125Ile) c.2607G>C (p.Met869Ile) c.3309G>C (p.Met1103Ile) n.231G>C c.665G>C | |
X | g.53382294C>T | CA413243364 | SMC1A | c.3375G>A (p.Met1125Ile) c.2607G>A (p.Met869Ile) c.3309G>A (p.Met1103Ile) n.231G>A c.665G>A | |
X | g.53382295A>C | CA413243365 | SMC1A | c.3374T>G (p.Met1125Arg) c.2606T>G (p.Met869Arg) c.3308T>G (p.Met1103Arg) n.230T>G c.664T>G | |
X | g.53382295A>G | CA413243366 | SMC1A | c.3374T>C (p.Met1125Thr) c.2606T>C (p.Met869Thr) c.3308T>C (p.Met1103Thr) n.230T>C c.664T>C | ClinVar dbSNP |
X | g.53382295A>T | CA413243367 | SMC1A | c.3374T>A (p.Met1125Lys) c.2606T>A (p.Met869Lys) c.3308T>A (p.Met1103Lys) n.230T>A c.664T>A | |
X | g.53382296T>A | CA413243368 | SMC1A | c.3373A>T (p.Met1125Leu) c.2605A>T (p.Met869Leu) c.3307A>T (p.Met1103Leu) n.229A>T c.663A>T | |
X | g.53382296T>C | CA16044282 | SMC1A | c.3373A>G (p.Met1125Val) c.2605A>G (p.Met869Val) c.3307A>G (p.Met1103Val) n.229A>G c.663A>G | ClinVar dbSNP |
X | g.53382296T>G | CA413243369 | SMC1A | c.3373A>C (p.Met1125Leu) c.2605A>C (p.Met869Leu) c.3307A>C (p.Met1103Leu) n.229A>C c.663A>C | |
X | g.53382296T= | CA2429817410 | SMC1A | c.3373A= (p.Met1125=) c.2605A= (p.Met869=) c.3307A= (p.Met1103=) n.229A= c.663A= | |
X | g.53382297A>C | CA516688009 | SMC1A | c.3372T>G (p.Pro1124=) c.2604T>G (p.Pro868=) c.3306T>G (p.Pro1102=) n.228T>G c.662T>G | |
X | g.53382297A>G | CA516688010 | SMC1A | c.3372T>C (p.Pro1124=) c.2604T>C (p.Pro868=) c.3306T>C (p.Pro1102=) n.228T>C c.662T>C | |
X | g.53382297A>T | CA516688011 | SMC1A | c.3372T>A (p.Pro1124=) c.2604T>A (p.Pro868=) c.3306T>A (p.Pro1102=) n.228T>A c.662T>A | |
X | g.53382298G>A | CA413243370 | SMC1A | c.3371C>T (p.Pro1124Leu) c.2603C>T (p.Pro868Leu) c.3305C>T (p.Pro1102Leu) n.227C>T c.661C>T | ClinVar dbSNP |
X | g.53382298G>C | CA413243371 | SMC1A | c.3371C>G (p.Pro1124Arg) c.2603C>G (p.Pro868Arg) c.3305C>G (p.Pro1102Arg) n.227C>G c.661C>G | |
X | g.53382298G= | CA2429817411 | SMC1A | c.3371C= (p.Pro1124=) c.2603C= (p.Pro868=) c.3305C= (p.Pro1102=) n.227C= c.661C= | |
X | g.53382298G>T | CA413243372 | SMC1A | c.3371C>A (p.Pro1124His) c.2603C>A (p.Pro868His) c.3305C>A (p.Pro1102His) n.227C>A c.661C>A | |
X | g.53382299G>A | CA413243374 | SMC1A | c.3370C>T (p.Pro1124Ser) c.2602C>T (p.Pro868Ser) c.3304C>T (p.Pro1102Ser) n.226C>T c.660C>T | |
X | g.53382299G>C | CA413243375 | SMC1A | c.3370C>G (p.Pro1124Ala) c.2602C>G (p.Pro868Ala) c.3304C>G (p.Pro1102Ala) n.226C>G c.660C>G | |
X | g.53382299G>T | CA413243373 | SMC1A | c.3370C>A (p.Pro1124Thr) c.2602C>A (p.Pro868Thr) c.3304C>A (p.Pro1102Thr) n.226C>A c.660C>A | |
X | g.53382300C>A | CA516688012 | SMC1A | c.3369G>T (p.Arg1123=) c.2601G>T (p.Arg867=) c.3303G>T (p.Arg1101=) n.225G>T c.659G>T | |
X | g.53382300C>G | CA516688013 | SMC1A | c.3369G>C (p.Arg1123=) c.2601G>C (p.Arg867=) c.3303G>C (p.Arg1101=) n.225G>C c.659G>C | |
X | g.53382300C>T | CA516688014 | SMC1A | c.3369G>A (p.Arg1123=) c.2601G>A (p.Arg867=) c.3303G>A (p.Arg1101=) n.225G>A c.659G>A | |
X | g.53382301C>A | CA413243376 | SMC1A | c.3368G>T (p.Arg1123Leu) c.2600G>T (p.Arg867Leu) c.3302G>T (p.Arg1101Leu) n.224G>T c.658G>T | |
X | g.53382301C= | CA2429817412 | SMC1A | c.3368G= (p.Arg1123=) c.2600G= (p.Arg867=) c.3302G= (p.Arg1101=) n.224G= c.658G= | |
X | g.53382301C>G | CA413243378 | SMC1A | c.3368G>C (p.Arg1123Pro) c.2600G>C (p.Arg867Pro) c.3302G>C (p.Arg1101Pro) n.224G>C c.658G>C | |
X | g.53382301C>T | CA413243377 | SMC1A | c.3368G>A (p.Arg1123Gln) c.2600G>A (p.Arg867Gln) c.3302G>A (p.Arg1101Gln) n.224G>A c.658G>A | dbSNP |
X | g.53382302G>A | CA413243379 | SMC1A | c.3367C>T (p.Arg1123Trp) c.2599C>T (p.Arg867Trp) c.3301C>T (p.Arg1101Trp) n.223C>T c.657C>T | ClinVar dbSNP |
X | g.53382302G>C | CA413243380 | SMC1A | c.3367C>G (p.Arg1123Gly) c.2599C>G (p.Arg867Gly) c.3301C>G (p.Arg1101Gly) n.223C>G c.657C>G | |
X | g.53382302G>T | CA516688015 | SMC1A | c.3367C>A (p.Arg1123=) c.2599C>A (p.Arg867=) c.3301C>A (p.Arg1101=) n.223C>A c.657C>A | |
X | g.53382303G>A | CA516688016 | SMC1A | c.3366C>T (p.Phe1122=) c.2598C>T (p.Phe866=) c.3300C>T (p.Phe1100=) n.222C>T c.656C>T | |
X | g.53382303G>C | CA413243381 | SMC1A | c.3366C>G (p.Phe1122Leu) c.2598C>G (p.Phe866Leu) c.3300C>G (p.Phe1100Leu) n.222C>G c.656C>G | |
X | g.53382303G>T | CA413243382 | SMC1A | c.3366C>A (p.Phe1122Leu) c.2598C>A (p.Phe866Leu) c.3300C>A (p.Phe1100Leu) n.222C>A c.656C>A | |
X | g.53382304A>C | CA413243383 | SMC1A | c.3365T>G (p.Phe1122Cys) c.2597T>G (p.Phe866Cys) c.3299T>G (p.Phe1100Cys) n.221T>G c.655T>G | |
X | g.53382304A>G | CA413243384 | SMC1A | c.3365T>C (p.Phe1122Ser) c.2597T>C (p.Phe866Ser) c.3299T>C (p.Phe1100Ser) n.221T>C c.655T>C | |
X | g.53382304A>T | CA413243385 | SMC1A | c.3365T>A (p.Phe1122Tyr) c.2597T>A (p.Phe866Tyr) c.3299T>A (p.Phe1100Tyr) n.221T>A c.655T>A | |
X | g.53382305A= | CA2429817413 | SMC1A | c.3364T= (p.Phe1122=) c.2596T= (p.Phe866=) c.3298T= (p.Phe1100=) n.220T= c.654T= | |
X | g.53382305A>C | CA413243386 | SMC1A | c.3364T>G (p.Phe1122Val) c.2596T>G (p.Phe866Val) c.3298T>G (p.Phe1100Val) n.220T>G c.654T>G | dbSNP |
X | g.53382305A>G | CA413243387 | SMC1A | c.3364T>C (p.Phe1122Leu) c.2596T>C (p.Phe866Leu) c.3298T>C (p.Phe1100Leu) n.220T>C c.654T>C | |
X | g.53382305A>T | CA413243388 | SMC1A | c.3364T>A (p.Phe1122Ile) c.2596T>A (p.Phe866Ile) c.3298T>A (p.Phe1100Ile) n.220T>A c.654T>A | |
X | g.53382306G>A | CA516688017 | SMC1A | c.3363C>T (p.Arg1121=) c.2595C>T (p.Arg865=) c.3297C>T (p.Arg1099=) n.219C>T c.653C>T | |
X | g.53382306G>C | CA516688018 | SMC1A | c.3363C>G (p.Arg1121=) c.2595C>G (p.Arg865=) c.3297C>G (p.Arg1099=) n.219C>G c.653C>G | |
X | g.53382306G>T | CA516688019 | SMC1A | c.3363C>A (p.Arg1121=) c.2595C>A (p.Arg865=) c.3297C>A (p.Arg1099=) n.219C>A c.653C>A | |
X | g.53382307C>A | CA413243391 | SMC1A | c.3362G>T (p.Arg1121Leu) c.2594G>T (p.Arg865Leu) c.3296G>T (p.Arg1099Leu) n.218G>T c.652G>T | |
X | g.53382307C= | CA2429817414 | SMC1A | c.3362G= (p.Arg1121=) c.2594G= (p.Arg865=) c.3296G= (p.Arg1099=) n.218G= c.652G= | |
X | g.53382307C>G | CA413243390 | SMC1A | c.3362G>C (p.Arg1121Pro) c.2594G>C (p.Arg865Pro) c.3296G>C (p.Arg1099Pro) n.218G>C c.652G>C | |
X | g.53382307C>T | CA413243389 | SMC1A | c.3362G>A (p.Arg1121His) c.2594G>A (p.Arg865His) c.3296G>A (p.Arg1099His) n.218G>A c.652G>A | ClinVar dbSNP |
X | g.53382308G>A | CA413243392 | SMC1A | c.3361C>T (p.Arg1121Cys) c.2593C>T (p.Arg865Cys) c.3295C>T (p.Arg1099Cys) n.217C>T c.651C>T | |
X | g.53382308G>C | CA413243393 | SMC1A | c.3361C>G (p.Arg1121Gly) c.2593C>G (p.Arg865Gly) c.3295C>G (p.Arg1099Gly) n.217C>G c.651C>G | |
X | g.53382308G>T | CA413243394 | SMC1A | c.3361C>A (p.Arg1121Ser) c.2593C>A (p.Arg865Ser) c.3295C>A (p.Arg1099Ser) n.217C>A c.651C>A | |
X | g.53382309T>A | CA413243395 | SMC1A | c.3360A>T (p.Lys1120Asn) c.2592A>T (p.Lys864Asn) c.3294A>T (p.Lys1098Asn) n.216A>T c.650A>T | |
X | g.53382309T>C | CA516688020 | SMC1A | c.3360A>G (p.Lys1120=) c.2592A>G (p.Lys864=) c.3294A>G (p.Lys1098=) n.216A>G c.650A>G | |
X | g.53382309T>G | CA413243396 | SMC1A | c.3360A>C (p.Lys1120Asn) c.2592A>C (p.Lys864Asn) c.3294A>C (p.Lys1098Asn) n.216A>C c.650A>C | |
X | g.53382310T>A | CA413243397 | SMC1A | c.3359A>T (p.Lys1120Ile) c.2591A>T (p.Lys864Ile) c.3293A>T (p.Lys1098Ile) n.215A>T c.649A>T | |
X | g.53382310T>C | CA413243398 | SMC1A | c.3359A>G (p.Lys1120Arg) c.2591A>G (p.Lys864Arg) c.3293A>G (p.Lys1098Arg) n.215A>G c.649A>G | |
X | g.53382310T>G | CA413243399 | SMC1A | c.3359A>C (p.Lys1120Thr) c.2591A>C (p.Lys864Thr) c.3293A>C (p.Lys1098Thr) n.215A>C c.649A>C | |
X | g.53382311T>A | CA413243400 | SMC1A | c.3358A>T (p.Lys1120Ter) c.2590A>T (p.Lys864Ter) c.3292A>T (p.Lys1098Ter) n.214A>T c.648A>T | |
X | g.53382311T>C | CA413243401 | SMC1A | c.3358A>G (p.Lys1120Glu) c.2590A>G (p.Lys864Glu) c.3292A>G (p.Lys1098Glu) n.214A>G c.648A>G | |
X | g.53382311T>G | CA413243402 | SMC1A | c.3358A>C (p.Lys1120Gln) c.2590A>C (p.Lys864Gln) c.3292A>C (p.Lys1098Gln) n.214A>C c.648A>C | |
X | g.53382312C>A | CA516688021 | SMC1A | c.3357G>T (p.Gly1119=) c.2589G>T (p.Gly863=) c.3291G>T (p.Gly1097=) n.213G>T c.647G>T | |
X | g.53382312C>G | CA516688022 | SMC1A | c.3357G>C (p.Gly1119=) c.2589G>C (p.Gly863=) c.3291G>C (p.Gly1097=) n.213G>C c.647G>C | |
X | g.53382312C>T | CA516688023 | SMC1A | c.3357G>A (p.Gly1119=) c.2589G>A (p.Gly863=) c.3291G>A (p.Gly1097=) n.213G>A c.647G>A | |
X | g.53382313C>A | CA413243404 | SMC1A | c.3356G>T (p.Gly1119Val) c.2588G>T (p.Gly863Val) c.3290G>T (p.Gly1097Val) n.212G>T c.646G>T | |
X | g.53382313C>G | CA413243405 | SMC1A | c.3356G>C (p.Gly1119Ala) c.2588G>C (p.Gly863Ala) c.3290G>C (p.Gly1097Ala) n.212G>C c.646G>C | |
X | g.53382313C>T | CA413243403 | SMC1A | c.3356G>A (p.Gly1119Glu) c.2588G>A (p.Gly863Glu) c.3290G>A (p.Gly1097Glu) n.212G>A c.646G>A | |
X | g.53382314C>A | CA413243406 | SMC1A | c.3355G>T (p.Gly1119Trp) c.2587G>T (p.Gly863Trp) c.3289G>T (p.Gly1097Trp) n.211G>T c.645G>T | |
X | g.53382314C>G | CA413243407 | SMC1A | c.3355G>C (p.Gly1119Arg) c.2587G>C (p.Gly863Arg) c.3289G>C (p.Gly1097Arg) n.211G>C c.645G>C | |
X | g.53382314C>T | CA413243408 | SMC1A | c.3355G>A (p.Gly1119Arg) c.2587G>A (p.Gly863Arg) c.3289G>A (p.Gly1097Arg) n.211G>A c.645G>A | |
X | g.53382315A>C | CA516688025 | SMC1A | c.3354T>G (p.Pro1118=) c.2586T>G (p.Pro862=) c.3288T>G (p.Pro1096=) n.210T>G c.644T>G | |
X | g.53382315A>G | CA516688026 | SMC1A | c.3354T>C (p.Pro1118=) c.2586T>C (p.Pro862=) c.3288T>C (p.Pro1096=) n.210T>C c.644T>C | |
X | g.53382315A>T | CA516688024 | SMC1A | c.3354T>A (p.Pro1118=) c.2586T>A (p.Pro862=) c.3288T>A (p.Pro1096=) n.210T>A c.644T>A | |
X | g.53382316G>A | CA413243409 | SMC1A | c.3353C>T (p.Pro1118Leu) c.2585C>T (p.Pro862Leu) c.3287C>T (p.Pro1096Leu) n.209C>T c.643C>T | |
X | g.53382316G>C | CA413243410 | SMC1A | c.3353C>G (p.Pro1118Arg) c.2585C>G (p.Pro862Arg) c.3287C>G (p.Pro1096Arg) n.209C>G c.643C>G | |
X | g.53382316G>T | CA413243411 | SMC1A | c.3353C>A (p.Pro1118His) c.2585C>A (p.Pro862His) c.3287C>A (p.Pro1096His) n.209C>A c.643C>A | |
X | g.53382317G>A | CA413243412 | SMC1A | c.3352C>T (p.Pro1118Ser) c.2584C>T (p.Pro862Ser) c.3286C>T (p.Pro1096Ser) n.208C>T c.642C>T | |
X | g.53382317G>C | CA413243413 | SMC1A | c.3352C>G (p.Pro1118Ala) c.2584C>G (p.Pro862Ala) c.3286C>G (p.Pro1096Ala) n.208C>G c.642C>G | |
X | g.53382317G>T | CA413243414 | SMC1A | c.3352C>A (p.Pro1118Thr) c.2584C>A (p.Pro862Thr) c.3286C>A (p.Pro1096Thr) n.208C>A c.642C>A | |
X | g.53382318A>C | CA516688027 | SMC1A | c.3351T>G (p.Ala1117=) c.2583T>G (p.Ala861=) c.3285T>G (p.Ala1095=) n.207T>G c.641T>G | |
X | g.53382318A>G | CA516688028 | SMC1A | c.3351T>C (p.Ala1117=) c.2583T>C (p.Ala861=) c.3285T>C (p.Ala1095=) n.207T>C c.641T>C | |
X | g.53382318A>T | CA516688029 | SMC1A | c.3351T>A (p.Ala1117=) c.2583T>A (p.Ala861=) c.3285T>A (p.Ala1095=) n.207T>A c.641T>A | |
X | g.53382319G>A | CA413243415 | SMC1A | c.3350C>T (p.Ala1117Val) c.2582C>T (p.Ala861Val) c.3284C>T (p.Ala1095Val) n.206C>T c.640C>T | |
X | g.53382319G>C | CA413243416 | SMC1A | c.3350C>G (p.Ala1117Gly) c.2582C>G (p.Ala861Gly) c.3284C>G (p.Ala1095Gly) n.206C>G c.640C>G | |
X | g.53382319G>T | CA413243417 | SMC1A | c.3350C>A (p.Ala1117Asp) c.2582C>A (p.Ala861Asp) c.3284C>A (p.Ala1095Asp) n.206C>A c.640C>A | |
X | g.53382320C>A | CA413243420 | SMC1A | c.3349G>T (p.Ala1117Ser) c.2581G>T (p.Ala861Ser) c.3283G>T (p.Ala1095Ser) n.205G>T c.639G>T | |
X | g.53382320C>G | CA413243421 | SMC1A | c.3349G>C (p.Ala1117Pro) c.2581G>C (p.Ala861Pro) c.3283G>C (p.Ala1095Pro) n.205G>C c.639G>C | |
X | g.53382320C>T | CA413243419 | SMC1A | c.3349G>A (p.Ala1117Thr) c.2581G>A (p.Ala861Thr) c.3283G>A (p.Ala1095Thr) n.205G>A c.639G>A | |
X | g.53382321C>A | CA516688030 | SMC1A | c.3348G>T (p.Val1116=) c.2580G>T (p.Val860=) c.3282G>T (p.Val1094=) n.204G>T c.638G>T | |
X | g.53382321C>G | CA516688031 | SMC1A | c.3348G>C (p.Val1116=) c.2580G>C (p.Val860=) c.3282G>C (p.Val1094=) n.204G>C c.638G>C | |
X | g.53382321C>T | CA516688032 | SMC1A | c.3348G>A (p.Val1116=) c.2580G>A (p.Val860=) c.3282G>A (p.Val1094=) n.204G>A c.638G>A | |
X | g.53382322A>C | CA413243422 | SMC1A | c.3347T>G (p.Val1116Gly) c.2579T>G (p.Val860Gly) c.3281T>G (p.Val1094Gly) n.203T>G c.637T>G | |
X | g.53382322A>G | CA413243423 | SMC1A | c.3347T>C (p.Val1116Ala) c.2579T>C (p.Val860Ala) c.3281T>C (p.Val1094Ala) n.203T>C c.637T>C | |
X | g.53382322A>T | CA413243424 | SMC1A | c.3347T>A (p.Val1116Glu) c.2579T>A (p.Val860Glu) c.3281T>A (p.Val1094Glu) n.203T>A c.637T>A | |
X | g.53382323C>A | CA413243425 | SMC1A | c.3346G>T (p.Val1116Leu) c.2578G>T (p.Val860Leu) c.3280G>T (p.Val1094Leu) n.202G>T c.636G>T | |
X | g.53382323C>G | CA413243426 | SMC1A | c.3346G>C (p.Val1116Leu) c.2578G>C (p.Val860Leu) c.3280G>C (p.Val1094Leu) n.202G>C c.636G>C | |
X | g.53382323C>T | CA413243427 | SMC1A | c.3346G>A (p.Val1116Met) c.2578G>A (p.Val860Met) c.3280G>A (p.Val1094Met) n.202G>A c.636G>A | |
X | g.53382324A>C | CA413243428 | SMC1A | c.3345T>G (p.Cys1115Trp) c.2577T>G (p.Cys859Trp) c.3279T>G (p.Cys1093Trp) n.201T>G c.635T>G | |
X | g.53382324A>G | CA516688033 | SMC1A | c.3345T>C (p.Cys1115=) c.2577T>C (p.Cys859=) c.3279T>C (p.Cys1093=) n.201T>C c.635T>C | |
X | g.53382324A>T | CA413243429 | SMC1A | c.3345T>A (p.Cys1115Ter) c.2577T>A (p.Cys859Ter) c.3279T>A (p.Cys1093Ter) n.201T>A c.635T>A | |
X | g.53382325C>A | CA413243430 | SMC1A | c.3344G>T (p.Cys1115Phe) c.2576G>T (p.Cys859Phe) c.3278G>T (p.Cys1093Phe) n.200G>T c.634G>T | ClinVar dbSNP |
X | g.53382325C>G | CA413243431 | SMC1A | c.3344G>C (p.Cys1115Ser) c.2576G>C (p.Cys859Ser) c.3278G>C (p.Cys1093Ser) n.200G>C c.634G>C | |
X | g.53382325C>T | CA413243432 | SMC1A | c.3344G>A (p.Cys1115Tyr) c.2576G>A (p.Cys859Tyr) c.3278G>A (p.Cys1093Tyr) n.200G>A c.634G>A | ClinVar dbSNP |
X | g.53382326A>C | CA413243433 | SMC1A | c.3343T>G (p.Cys1115Gly) c.2575T>G (p.Cys859Gly) c.3277T>G (p.Cys1093Gly) n.199T>G c.633T>G | |
X | g.53382326A>G | CA413243434 | SMC1A | c.3343T>C (p.Cys1115Arg) c.2575T>C (p.Cys859Arg) c.3277T>C (p.Cys1093Arg) n.199T>C c.633T>C | |
X | g.53382326A>T | CA413243435 | SMC1A | c.3343T>A (p.Cys1115Ser) c.2575T>A (p.Cys859Ser) c.3277T>A (p.Cys1093Ser) n.199T>A c.633T>A | |
X | g.53382327G>A | CA516688034 | SMC1A | c.3342C>T (p.Asn1114=) c.2574C>T (p.Asn858=) c.3276C>T (p.Asn1092=) n.198C>T c.632C>T | dbSNP gnomAD v4 |
X | g.53382327G>C | CA413243436 | SMC1A | c.3342C>G (p.Asn1114Lys) c.2574C>G (p.Asn858Lys) c.3276C>G (p.Asn1092Lys) n.198C>G c.632C>G | |
X | g.53382327G= | CA2429817415 | SMC1A | c.3342C= (p.Asn1114=) c.2574C= (p.Asn858=) c.3276C= (p.Asn1092=) n.198C= c.632C= | |
X | g.53382327G>T | CA16043327 | SMC1A | c.3342C>A (p.Asn1114Lys) c.2574C>A (p.Asn858Lys) c.3276C>A (p.Asn1092Lys) n.198C>A c.632C>A | ClinVar dbSNP |
X | g.53382328T>A | CA413243437 | SMC1A | c.3341A>T (p.Asn1114Ile) c.2573A>T (p.Asn858Ile) c.3275A>T (p.Asn1092Ile) n.197A>T c.631A>T | |
X | g.53382328T>C | CA413243439 | SMC1A | c.3341A>G (p.Asn1114Ser) c.2573A>G (p.Asn858Ser) c.3275A>G (p.Asn1092Ser) n.197A>G c.631A>G | COSMIC |
X | g.53382328T>G | CA413243438 | SMC1A | c.3341A>C (p.Asn1114Thr) c.2573A>C (p.Asn858Thr) c.3275A>C (p.Asn1092Thr) n.197A>C c.631A>C | |
X | g.53382329T>A | CA413243440 | SMC1A | c.3340A>T (p.Asn1114Tyr) c.2572A>T (p.Asn858Tyr) c.3274A>T (p.Asn1092Tyr) n.196A>T c.630A>T | |
X | g.53382329T>C | CA413243442 | SMC1A | c.3340A>G (p.Asn1114Asp) c.2572A>G (p.Asn858Asp) c.3274A>G (p.Asn1092Asp) n.196A>G c.630A>G | |
X | g.53382329T>G | CA413243441 | SMC1A | c.3340A>C (p.Asn1114His) c.2572A>C (p.Asn858His) c.3274A>C (p.Asn1092His) n.196A>C c.630A>C | |
X | g.53382330G>A | CA516688035 | SMC1A | c.3339C>T (p.Tyr1113=) c.2571C>T (p.Tyr857=) c.3273C>T (p.Tyr1091=) n.195C>T c.629C>T | gnomAD v4 |
X | g.53382330G>C | CA413243443 | SMC1A | c.3339C>G (p.Tyr1113Ter) c.2571C>G (p.Tyr857Ter) c.3273C>G (p.Tyr1091Ter) n.195C>G c.629C>G | |
X | g.53382330G>T | CA413243444 | SMC1A | c.3339C>A (p.Tyr1113Ter) c.2571C>A (p.Tyr857Ter) c.3273C>A (p.Tyr1091Ter) n.195C>A c.629C>A | COSMIC |