Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53382305A=CA2429817413SMC1Ac.3364T= (p.Phe1122=)
c.2596T= (p.Phe866=)
c.3298T= (p.Phe1100=)
n.220T=
c.654T=
Xg.53382305A>CCA413243386SMC1Ac.3364T>G (p.Phe1122Val)
c.2596T>G (p.Phe866Val)
c.3298T>G (p.Phe1100Val)
n.220T>G
c.654T>G
 dbSNP
Xg.53382305A>GCA413243387SMC1Ac.3364T>C (p.Phe1122Leu)
c.2596T>C (p.Phe866Leu)
c.3298T>C (p.Phe1100Leu)
n.220T>C
c.654T>C
Xg.53382305A>TCA413243388SMC1Ac.3364T>A (p.Phe1122Ile)
c.2596T>A (p.Phe866Ile)
c.3298T>A (p.Phe1100Ile)
n.220T>A
c.654T>A
Xg.53382306G>ACA516688017SMC1Ac.3363C>T (p.Arg1121=)
c.2595C>T (p.Arg865=)
c.3297C>T (p.Arg1099=)
n.219C>T
c.653C>T
Xg.53382306G>CCA516688018SMC1Ac.3363C>G (p.Arg1121=)
c.2595C>G (p.Arg865=)
c.3297C>G (p.Arg1099=)
n.219C>G
c.653C>G
Xg.53382306G>TCA516688019SMC1Ac.3363C>A (p.Arg1121=)
c.2595C>A (p.Arg865=)
c.3297C>A (p.Arg1099=)
n.219C>A
c.653C>A
Xg.53382307C>ACA413243391SMC1Ac.3362G>T (p.Arg1121Leu)
c.2594G>T (p.Arg865Leu)
c.3296G>T (p.Arg1099Leu)
n.218G>T
c.652G>T
Xg.53382307C=CA2429817414SMC1Ac.3362G= (p.Arg1121=)
c.2594G= (p.Arg865=)
c.3296G= (p.Arg1099=)
n.218G=
c.652G=
Xg.53382307C>GCA413243390SMC1Ac.3362G>C (p.Arg1121Pro)
c.2594G>C (p.Arg865Pro)
c.3296G>C (p.Arg1099Pro)
n.218G>C
c.652G>C
Xg.53382307C>TCA413243389SMC1Ac.3362G>A (p.Arg1121His)
c.2594G>A (p.Arg865His)
c.3296G>A (p.Arg1099His)
n.218G>A
c.652G>A
 ClinVar dbSNP
Xg.53382308G>ACA413243392SMC1Ac.3361C>T (p.Arg1121Cys)
c.2593C>T (p.Arg865Cys)
c.3295C>T (p.Arg1099Cys)
n.217C>T
c.651C>T
Xg.53382308G>CCA413243393SMC1Ac.3361C>G (p.Arg1121Gly)
c.2593C>G (p.Arg865Gly)
c.3295C>G (p.Arg1099Gly)
n.217C>G
c.651C>G
Xg.53382308G>TCA413243394SMC1Ac.3361C>A (p.Arg1121Ser)
c.2593C>A (p.Arg865Ser)
c.3295C>A (p.Arg1099Ser)
n.217C>A
c.651C>A
Xg.53382309T>ACA413243395SMC1Ac.3360A>T (p.Lys1120Asn)
c.2592A>T (p.Lys864Asn)
c.3294A>T (p.Lys1098Asn)
n.216A>T
c.650A>T
Xg.53382309T>CCA516688020SMC1Ac.3360A>G (p.Lys1120=)
c.2592A>G (p.Lys864=)
c.3294A>G (p.Lys1098=)
n.216A>G
c.650A>G
Xg.53382309T>GCA413243396SMC1Ac.3360A>C (p.Lys1120Asn)
c.2592A>C (p.Lys864Asn)
c.3294A>C (p.Lys1098Asn)
n.216A>C
c.650A>C
Xg.53382310T>ACA413243397SMC1Ac.3359A>T (p.Lys1120Ile)
c.2591A>T (p.Lys864Ile)
c.3293A>T (p.Lys1098Ile)
n.215A>T
c.649A>T
Xg.53382310T>CCA413243398SMC1Ac.3359A>G (p.Lys1120Arg)
c.2591A>G (p.Lys864Arg)
c.3293A>G (p.Lys1098Arg)
n.215A>G
c.649A>G
Xg.53382310T>GCA413243399SMC1Ac.3359A>C (p.Lys1120Thr)
c.2591A>C (p.Lys864Thr)
c.3293A>C (p.Lys1098Thr)
n.215A>C
c.649A>C
Xg.53382311T>ACA413243400SMC1Ac.3358A>T (p.Lys1120Ter)
c.2590A>T (p.Lys864Ter)
c.3292A>T (p.Lys1098Ter)
n.214A>T
c.648A>T
Xg.53382311T>CCA413243401SMC1Ac.3358A>G (p.Lys1120Glu)
c.2590A>G (p.Lys864Glu)
c.3292A>G (p.Lys1098Glu)
n.214A>G
c.648A>G
Xg.53382311T>GCA413243402SMC1Ac.3358A>C (p.Lys1120Gln)
c.2590A>C (p.Lys864Gln)
c.3292A>C (p.Lys1098Gln)
n.214A>C
c.648A>C
Xg.53382312C>ACA516688021SMC1Ac.3357G>T (p.Gly1119=)
c.2589G>T (p.Gly863=)
c.3291G>T (p.Gly1097=)
n.213G>T
c.647G>T
Xg.53382312C>GCA516688022SMC1Ac.3357G>C (p.Gly1119=)
c.2589G>C (p.Gly863=)
c.3291G>C (p.Gly1097=)
n.213G>C
c.647G>C
Xg.53382312C>TCA516688023SMC1Ac.3357G>A (p.Gly1119=)
c.2589G>A (p.Gly863=)
c.3291G>A (p.Gly1097=)
n.213G>A
c.647G>A
Xg.53382313C>ACA413243404SMC1Ac.3356G>T (p.Gly1119Val)
c.2588G>T (p.Gly863Val)
c.3290G>T (p.Gly1097Val)
n.212G>T
c.646G>T
Xg.53382313C>GCA413243405SMC1Ac.3356G>C (p.Gly1119Ala)
c.2588G>C (p.Gly863Ala)
c.3290G>C (p.Gly1097Ala)
n.212G>C
c.646G>C
Xg.53382313C>TCA413243403SMC1Ac.3356G>A (p.Gly1119Glu)
c.2588G>A (p.Gly863Glu)
c.3290G>A (p.Gly1097Glu)
n.212G>A
c.646G>A
Xg.53382314C>ACA413243406SMC1Ac.3355G>T (p.Gly1119Trp)
c.2587G>T (p.Gly863Trp)
c.3289G>T (p.Gly1097Trp)
n.211G>T
c.645G>T
Xg.53382314C>GCA413243407SMC1Ac.3355G>C (p.Gly1119Arg)
c.2587G>C (p.Gly863Arg)
c.3289G>C (p.Gly1097Arg)
n.211G>C
c.645G>C
Xg.53382314C>TCA413243408SMC1Ac.3355G>A (p.Gly1119Arg)
c.2587G>A (p.Gly863Arg)
c.3289G>A (p.Gly1097Arg)
n.211G>A
c.645G>A
Xg.53382315A>CCA516688025SMC1Ac.3354T>G (p.Pro1118=)
c.2586T>G (p.Pro862=)
c.3288T>G (p.Pro1096=)
n.210T>G
c.644T>G
Xg.53382315A>GCA516688026SMC1Ac.3354T>C (p.Pro1118=)
c.2586T>C (p.Pro862=)
c.3288T>C (p.Pro1096=)
n.210T>C
c.644T>C
Xg.53382315A>TCA516688024SMC1Ac.3354T>A (p.Pro1118=)
c.2586T>A (p.Pro862=)
c.3288T>A (p.Pro1096=)
n.210T>A
c.644T>A
Xg.53382316G>ACA413243409SMC1Ac.3353C>T (p.Pro1118Leu)
c.2585C>T (p.Pro862Leu)
c.3287C>T (p.Pro1096Leu)
n.209C>T
c.643C>T
Xg.53382316G>CCA413243410SMC1Ac.3353C>G (p.Pro1118Arg)
c.2585C>G (p.Pro862Arg)
c.3287C>G (p.Pro1096Arg)
n.209C>G
c.643C>G
Xg.53382316G>TCA413243411SMC1Ac.3353C>A (p.Pro1118His)
c.2585C>A (p.Pro862His)
c.3287C>A (p.Pro1096His)
n.209C>A
c.643C>A
Xg.53382317G>ACA413243412SMC1Ac.3352C>T (p.Pro1118Ser)
c.2584C>T (p.Pro862Ser)
c.3286C>T (p.Pro1096Ser)
n.208C>T
c.642C>T
Xg.53382317G>CCA413243413SMC1Ac.3352C>G (p.Pro1118Ala)
c.2584C>G (p.Pro862Ala)
c.3286C>G (p.Pro1096Ala)
n.208C>G
c.642C>G
Xg.53382317G>TCA413243414SMC1Ac.3352C>A (p.Pro1118Thr)
c.2584C>A (p.Pro862Thr)
c.3286C>A (p.Pro1096Thr)
n.208C>A
c.642C>A
Xg.53382318A>CCA516688027SMC1Ac.3351T>G (p.Ala1117=)
c.2583T>G (p.Ala861=)
c.3285T>G (p.Ala1095=)
n.207T>G
c.641T>G
Xg.53382318A>GCA516688028SMC1Ac.3351T>C (p.Ala1117=)
c.2583T>C (p.Ala861=)
c.3285T>C (p.Ala1095=)
n.207T>C
c.641T>C
Xg.53382318A>TCA516688029SMC1Ac.3351T>A (p.Ala1117=)
c.2583T>A (p.Ala861=)
c.3285T>A (p.Ala1095=)
n.207T>A
c.641T>A
Xg.53382319G>ACA413243415SMC1Ac.3350C>T (p.Ala1117Val)
c.2582C>T (p.Ala861Val)
c.3284C>T (p.Ala1095Val)
n.206C>T
c.640C>T
Xg.53382319G>CCA413243416SMC1Ac.3350C>G (p.Ala1117Gly)
c.2582C>G (p.Ala861Gly)
c.3284C>G (p.Ala1095Gly)
n.206C>G
c.640C>G
Xg.53382319G>TCA413243417SMC1Ac.3350C>A (p.Ala1117Asp)
c.2582C>A (p.Ala861Asp)
c.3284C>A (p.Ala1095Asp)
n.206C>A
c.640C>A
Xg.53382320C>ACA413243420SMC1Ac.3349G>T (p.Ala1117Ser)
c.2581G>T (p.Ala861Ser)
c.3283G>T (p.Ala1095Ser)
n.205G>T
c.639G>T
Xg.53382320C>GCA413243421SMC1Ac.3349G>C (p.Ala1117Pro)
c.2581G>C (p.Ala861Pro)
c.3283G>C (p.Ala1095Pro)
n.205G>C
c.639G>C
Xg.53382320C>TCA413243419SMC1Ac.3349G>A (p.Ala1117Thr)
c.2581G>A (p.Ala861Thr)
c.3283G>A (p.Ala1095Thr)
n.205G>A
c.639G>A
Xg.53382321C>ACA516688030SMC1Ac.3348G>T (p.Val1116=)
c.2580G>T (p.Val860=)
c.3282G>T (p.Val1094=)
n.204G>T
c.638G>T
Xg.53382321C>GCA516688031SMC1Ac.3348G>C (p.Val1116=)
c.2580G>C (p.Val860=)
c.3282G>C (p.Val1094=)
n.204G>C
c.638G>C
Xg.53382321C>TCA516688032SMC1Ac.3348G>A (p.Val1116=)
c.2580G>A (p.Val860=)
c.3282G>A (p.Val1094=)
n.204G>A
c.638G>A
Xg.53382322A>CCA413243422SMC1Ac.3347T>G (p.Val1116Gly)
c.2579T>G (p.Val860Gly)
c.3281T>G (p.Val1094Gly)
n.203T>G
c.637T>G
Xg.53382322A>GCA413243423SMC1Ac.3347T>C (p.Val1116Ala)
c.2579T>C (p.Val860Ala)
c.3281T>C (p.Val1094Ala)
n.203T>C
c.637T>C
Xg.53382322A>TCA413243424SMC1Ac.3347T>A (p.Val1116Glu)
c.2579T>A (p.Val860Glu)
c.3281T>A (p.Val1094Glu)
n.203T>A
c.637T>A
Xg.53382323C>ACA413243425SMC1Ac.3346G>T (p.Val1116Leu)
c.2578G>T (p.Val860Leu)
c.3280G>T (p.Val1094Leu)
n.202G>T
c.636G>T
Xg.53382323C>GCA413243426SMC1Ac.3346G>C (p.Val1116Leu)
c.2578G>C (p.Val860Leu)
c.3280G>C (p.Val1094Leu)
n.202G>C
c.636G>C
Xg.53382323C>TCA413243427SMC1Ac.3346G>A (p.Val1116Met)
c.2578G>A (p.Val860Met)
c.3280G>A (p.Val1094Met)
n.202G>A
c.636G>A
Xg.53382324A>CCA413243428SMC1Ac.3345T>G (p.Cys1115Trp)
c.2577T>G (p.Cys859Trp)
c.3279T>G (p.Cys1093Trp)
n.201T>G
c.635T>G
Xg.53382324A>GCA516688033SMC1Ac.3345T>C (p.Cys1115=)
c.2577T>C (p.Cys859=)
c.3279T>C (p.Cys1093=)
n.201T>C
c.635T>C
Xg.53382324A>TCA413243429SMC1Ac.3345T>A (p.Cys1115Ter)
c.2577T>A (p.Cys859Ter)
c.3279T>A (p.Cys1093Ter)
n.201T>A
c.635T>A
Xg.53382325C>ACA413243430SMC1Ac.3344G>T (p.Cys1115Phe)
c.2576G>T (p.Cys859Phe)
c.3278G>T (p.Cys1093Phe)
n.200G>T
c.634G>T
 ClinVar dbSNP
Xg.53382325C>GCA413243431SMC1Ac.3344G>C (p.Cys1115Ser)
c.2576G>C (p.Cys859Ser)
c.3278G>C (p.Cys1093Ser)
n.200G>C
c.634G>C
Xg.53382325C>TCA413243432SMC1Ac.3344G>A (p.Cys1115Tyr)
c.2576G>A (p.Cys859Tyr)
c.3278G>A (p.Cys1093Tyr)
n.200G>A
c.634G>A
 ClinVar dbSNP
Xg.53382326A>CCA413243433SMC1Ac.3343T>G (p.Cys1115Gly)
c.2575T>G (p.Cys859Gly)
c.3277T>G (p.Cys1093Gly)
n.199T>G
c.633T>G
Xg.53382326A>GCA413243434SMC1Ac.3343T>C (p.Cys1115Arg)
c.2575T>C (p.Cys859Arg)
c.3277T>C (p.Cys1093Arg)
n.199T>C
c.633T>C
Xg.53382326A>TCA413243435SMC1Ac.3343T>A (p.Cys1115Ser)
c.2575T>A (p.Cys859Ser)
c.3277T>A (p.Cys1093Ser)
n.199T>A
c.633T>A
Xg.53382327G>ACA516688034SMC1Ac.3342C>T (p.Asn1114=)
c.2574C>T (p.Asn858=)
c.3276C>T (p.Asn1092=)
n.198C>T
c.632C>T
 dbSNP gnomAD v4
Xg.53382327G>CCA413243436SMC1Ac.3342C>G (p.Asn1114Lys)
c.2574C>G (p.Asn858Lys)
c.3276C>G (p.Asn1092Lys)
n.198C>G
c.632C>G
Xg.53382327G=CA2429817415SMC1Ac.3342C= (p.Asn1114=)
c.2574C= (p.Asn858=)
c.3276C= (p.Asn1092=)
n.198C=
c.632C=
Xg.53382327G>TCA16043327SMC1Ac.3342C>A (p.Asn1114Lys)
c.2574C>A (p.Asn858Lys)
c.3276C>A (p.Asn1092Lys)
n.198C>A
c.632C>A
 ClinVar dbSNP
Xg.53382328T>ACA413243437SMC1Ac.3341A>T (p.Asn1114Ile)
c.2573A>T (p.Asn858Ile)
c.3275A>T (p.Asn1092Ile)
n.197A>T
c.631A>T
Xg.53382328T>CCA413243439SMC1Ac.3341A>G (p.Asn1114Ser)
c.2573A>G (p.Asn858Ser)
c.3275A>G (p.Asn1092Ser)
n.197A>G
c.631A>G
 COSMIC
Xg.53382328T>GCA413243438SMC1Ac.3341A>C (p.Asn1114Thr)
c.2573A>C (p.Asn858Thr)
c.3275A>C (p.Asn1092Thr)
n.197A>C
c.631A>C
Xg.53382329T>ACA413243440SMC1Ac.3340A>T (p.Asn1114Tyr)
c.2572A>T (p.Asn858Tyr)
c.3274A>T (p.Asn1092Tyr)
n.196A>T
c.630A>T
Xg.53382329T>CCA413243442SMC1Ac.3340A>G (p.Asn1114Asp)
c.2572A>G (p.Asn858Asp)
c.3274A>G (p.Asn1092Asp)
n.196A>G
c.630A>G
Xg.53382329T>GCA413243441SMC1Ac.3340A>C (p.Asn1114His)
c.2572A>C (p.Asn858His)
c.3274A>C (p.Asn1092His)
n.196A>C
c.630A>C
Xg.53382330G>ACA516688035SMC1Ac.3339C>T (p.Tyr1113=)
c.2571C>T (p.Tyr857=)
c.3273C>T (p.Tyr1091=)
n.195C>T
c.629C>T
 gnomAD v4
Xg.53382330G>CCA413243443SMC1Ac.3339C>G (p.Tyr1113Ter)
c.2571C>G (p.Tyr857Ter)
c.3273C>G (p.Tyr1091Ter)
n.195C>G
c.629C>G
Xg.53382330G>TCA413243444SMC1Ac.3339C>A (p.Tyr1113Ter)
c.2571C>A (p.Tyr857Ter)
c.3273C>A (p.Tyr1091Ter)
n.195C>A
c.629C>A
 COSMIC
Xg.53382331T>ACA413243445SMC1Ac.3338A>T (p.Tyr1113Phe)
c.2570A>T (p.Tyr857Phe)
c.3272A>T (p.Tyr1091Phe)
n.194A>T
c.628A>T
Xg.53382331T>CCA413243446SMC1Ac.3338A>G (p.Tyr1113Cys)
c.2570A>G (p.Tyr857Cys)
c.3272A>G (p.Tyr1091Cys)
n.194A>G
c.628A>G
Xg.53382331T>GCA413243447SMC1Ac.3338A>C (p.Tyr1113Ser)
c.2570A>C (p.Tyr857Ser)
c.3272A>C (p.Tyr1091Ser)
n.194A>C
c.628A>C
Xg.53382332A>CCA413243449SMC1Ac.3337T>G (p.Tyr1113Asp)
c.2569T>G (p.Tyr857Asp)
c.3271T>G (p.Tyr1091Asp)
n.193T>G
c.627T>G
Xg.53382332A>GCA413243450SMC1Ac.3337T>C (p.Tyr1113His)
c.2569T>C (p.Tyr857His)
c.3271T>C (p.Tyr1091His)
n.193T>C
c.627T>C
Xg.53382332A>TCA413243452SMC1Ac.3337T>A (p.Tyr1113Asn)
c.2569T>A (p.Tyr857Asn)
c.3271T>A (p.Tyr1091Asn)
n.193T>A
c.627T>A
Xg.53382333G>ACA516688036SMC1Ac.3336C>T (p.Asn1112=)
c.2568C>T (p.Asn856=)
c.3270C>T (p.Asn1090=)
n.192C>T
c.626C>T
 gnomAD v4
Xg.53382333G>CCA413243454SMC1Ac.3336C>G (p.Asn1112Lys)
c.2568C>G (p.Asn856Lys)
c.3270C>G (p.Asn1090Lys)
n.192C>G
c.626C>G
Xg.53382333G>TCA413243455SMC1Ac.3336C>A (p.Asn1112Lys)
c.2568C>A (p.Asn856Lys)
c.3270C>A (p.Asn1090Lys)
n.192C>A
c.626C>A
Xg.53382334T>ACA413243458SMC1Ac.3335A>T (p.Asn1112Ile)
c.2567A>T (p.Asn856Ile)
c.3269A>T (p.Asn1090Ile)
n.191A>T
c.625A>T
Xg.53382334T>CCA329906122SMC1Ac.3335A>G (p.Asn1112Ser)
c.2567A>G (p.Asn856Ser)
c.3269A>G (p.Asn1090Ser)
n.191A>G
c.625A>G
 dbSNP
Xg.53382334T>GCA413243465SMC1Ac.3335A>C (p.Asn1112Thr)
c.2567A>C (p.Asn856Thr)
c.3269A>C (p.Asn1090Thr)
n.191A>C
c.625A>C
Xg.53382334T=CA2429817416SMC1Ac.3335A= (p.Asn1112=)
c.2567A= (p.Asn856=)
c.3269A= (p.Asn1090=)
n.191A=
c.625A=
Xg.53382335T>ACA413243470SMC1Ac.3334A>T (p.Asn1112Tyr)
c.2566A>T (p.Asn856Tyr)
c.3268A>T (p.Asn1090Tyr)
n.190A>T
c.624A>T
Xg.53382335T>CCA413243466SMC1Ac.3334A>G (p.Asn1112Asp)
c.2566A>G (p.Asn856Asp)
c.3268A>G (p.Asn1090Asp)
n.190A>G
c.624A>G
 COSMIC
Xg.53382335T>GCA413243468SMC1Ac.3334A>C (p.Asn1112His)
c.2566A>C (p.Asn856His)
c.3268A>C (p.Asn1090His)
n.190A>C
c.624A>C
Xg.53382336G>ACA516688038SMC1Ac.3333C>T (p.Ile1111=)
c.2565C>T (p.Ile855=)
c.3267C>T (p.Ile1089=)
n.189C>T
c.623C>T
Xg.53382336G>CCA413243472SMC1Ac.3333C>G (p.Ile1111Met)
c.2565C>G (p.Ile855Met)
c.3267C>G (p.Ile1089Met)
n.189C>G
c.623C>G
Xg.53382336G>TCA516688037SMC1Ac.3333C>A (p.Ile1111=)
c.2565C>A (p.Ile855=)
c.3267C>A (p.Ile1089=)
n.189C>A
c.623C>A
Xg.53382337A>CCA413243475SMC1Ac.3332T>G (p.Ile1111Ser)
c.2564T>G (p.Ile855Ser)
c.3266T>G (p.Ile1089Ser)
n.188T>G
c.622T>G
Xg.53382337A>GCA413243477SMC1Ac.3332T>C (p.Ile1111Thr)
c.2564T>C (p.Ile855Thr)
c.3266T>C (p.Ile1089Thr)
n.188T>C
c.622T>C
Xg.53382337A>TCA413243478SMC1Ac.3332T>A (p.Ile1111Asn)
c.2564T>A (p.Ile855Asn)
c.3266T>A (p.Ile1089Asn)
n.188T>A
c.622T>A
Xg.53382338T>ACA413243481SMC1Ac.3331A>T (p.Ile1111Phe)
c.2563A>T (p.Ile855Phe)
c.3265A>T (p.Ile1089Phe)
n.187A>T
c.621A>T
Xg.53382338T>CCA413243483SMC1Ac.3331A>G (p.Ile1111Val)
c.2563A>G (p.Ile855Val)
c.3265A>G (p.Ile1089Val)
n.187A>G
c.621A>G
 dbSNP
Xg.53382338T>GCA413243484SMC1Ac.3331A>C (p.Ile1111Leu)
c.2563A>C (p.Ile855Leu)
c.3265A>C (p.Ile1089Leu)
n.187A>C
c.621A>C
Xg.53382338T=CA2429817417SMC1Ac.3331A= (p.Ile1111=)
c.2563A= (p.Ile855=)
c.3265A= (p.Ile1089=)
n.187A=
c.621A=
Xg.53382339G>ACA516688041SMC1Ac.3330C>T (p.Gly1110=)
c.2562C>T (p.Gly854=)
c.3264C>T (p.Gly1088=)
n.186C>T
c.620C>T
Xg.53382339G>CCA516688039SMC1Ac.3330C>G (p.Gly1110=)
c.2562C>G (p.Gly854=)
c.3264C>G (p.Gly1088=)
n.186C>G
c.620C>G
Xg.53382339G>TCA516688040SMC1Ac.3330C>A (p.Gly1110=)
c.2562C>A (p.Gly854=)
c.3264C>A (p.Gly1088=)
n.186C>A
c.620C>A
Xg.53382340C>ACA413243487SMC1Ac.3329G>T (p.Gly1110Val)
c.2561G>T (p.Gly854Val)
c.3263G>T (p.Gly1088Val)
n.185G>T
c.619G>T
Xg.53382340C>GCA413243489SMC1Ac.3329G>C (p.Gly1110Ala)
c.2561G>C (p.Gly854Ala)
c.3263G>C (p.Gly1088Ala)
n.185G>C
c.619G>C
Xg.53382340C>TCA413243492SMC1Ac.3329G>A (p.Gly1110Asp)
c.2561G>A (p.Gly854Asp)
c.3263G>A (p.Gly1088Asp)
n.185G>A
c.619G>A
Xg.53382343_53382346delCA658794212SMC1Ac.3326_3329del (p.Asp1109AlafsTer?)
c.2558_2561del (p.Asp853AlafsTer?)
c.3260_3263del (p.Asp1087AlafsTer?)
n.182_185del
c.616_619del
Xg.53382341C>ACA413243497SMC1Ac.3328G>T (p.Gly1110Cys)
c.2560G>T (p.Gly854Cys)
c.3262G>T (p.Gly1088Cys)
n.184G>T
c.618G>T
Xg.53382341C>GCA413243495SMC1Ac.3328G>C (p.Gly1110Arg)
c.2560G>C (p.Gly854Arg)
c.3262G>C (p.Gly1088Arg)
n.184G>C
c.618G>C
Xg.53382341C>TCA413243493SMC1Ac.3328G>A (p.Gly1110Ser)
c.2560G>A (p.Gly854Ser)
c.3262G>A (p.Gly1088Ser)
n.184G>A
c.618G>A
Xg.53382342A>CCA413243499SMC1Ac.3327T>G (p.Asp1109Glu)
c.2559T>G (p.Asp853Glu)
c.3261T>G (p.Asp1087Glu)
n.183T>G
c.617T>G
Xg.53382342A>GCA516688042SMC1Ac.3327T>C (p.Asp1109=)
c.2559T>C (p.Asp853=)
c.3261T>C (p.Asp1087=)
n.183T>C
c.617T>C
Xg.53382342A>TCA413243501SMC1Ac.3327T>A (p.Asp1109Glu)
c.2559T>A (p.Asp853Glu)
c.3261T>A (p.Asp1087Glu)
n.183T>A
c.617T>A
Xg.53382343T>ACA413243503SMC1Ac.3326A>T (p.Asp1109Val)
c.2558A>T (p.Asp853Val)
c.3260A>T (p.Asp1087Val)
n.182A>T
c.616A>T
Xg.53382343T>CCA413243505SMC1Ac.3326A>G (p.Asp1109Gly)
c.2558A>G (p.Asp853Gly)
c.3260A>G (p.Asp1087Gly)
n.182A>G
c.616A>G
Xg.53382343T>GCA413243507SMC1Ac.3326A>C (p.Asp1109Ala)
c.2558A>C (p.Asp853Ala)
c.3260A>C (p.Asp1087Ala)
n.182A>C
c.616A>C
Xg.53382344C>ACA413243509SMC1Ac.3325G>T (p.Asp1109Tyr)
c.2557G>T (p.Asp853Tyr)
c.3259G>T (p.Asp1087Tyr)
n.181G>T
c.615G>T
Xg.53382344C>GCA413243511SMC1Ac.3325G>C (p.Asp1109His)
c.2557G>C (p.Asp853His)
c.3259G>C (p.Asp1087His)
n.181G>C
c.615G>C
Xg.53382344C>TCA413243513SMC1Ac.3325G>A (p.Asp1109Asn)
c.2557G>A (p.Asp853Asn)
c.3259G>A (p.Asp1087Asn)
n.181G>A
c.615G>A
Xg.53382345C>ACA413243515SMC1Ac.3324G>T (p.Leu1108Phe)
c.2556G>T (p.Leu852Phe)
c.3258G>T (p.Leu1086Phe)
n.180G>T
c.614G>T
Xg.53382345C>GCA413243517SMC1Ac.3324G>C (p.Leu1108Phe)
c.2556G>C (p.Leu852Phe)
c.3258G>C (p.Leu1086Phe)
n.180G>C
c.614G>C
Xg.53382345C>TCA516688043SMC1Ac.3324G>A (p.Leu1108=)
c.2556G>A (p.Leu852=)
c.3258G>A (p.Leu1086=)
n.180G>A
c.614G>A
Xg.53382346A>CCA413243519SMC1Ac.3323T>G (p.Leu1108Trp)
c.2555T>G (p.Leu852Trp)
c.3257T>G (p.Leu1086Trp)
n.179T>G
c.613T>G
Xg.53382346A>GCA413243521SMC1Ac.3323T>C (p.Leu1108Ser)
c.2555T>C (p.Leu852Ser)
c.3257T>C (p.Leu1086Ser)
n.179T>C
c.613T>C
Xg.53382346A>TCA413243523SMC1Ac.3323T>A (p.Leu1108Ter)
c.2555T>A (p.Leu852Ter)
c.3257T>A (p.Leu1086Ter)
n.179T>A
c.613T>A
Xg.53382347A>CCA413243525SMC1Ac.3322T>G (p.Leu1108Val)
c.2554T>G (p.Leu852Val)
c.3256T>G (p.Leu1086Val)
n.178T>G
c.612T>G
Xg.53382347A>GCA516688044SMC1Ac.3322T>C (p.Leu1108=)
c.2554T>C (p.Leu852=)
c.3256T>C (p.Leu1086=)
n.178T>C
c.612T>C
 gnomAD v4
Xg.53382347A>TCA413243527SMC1Ac.3322T>A (p.Leu1108Met)
c.2554T>A (p.Leu852Met)
c.3256T>A (p.Leu1086Met)
n.178T>A
c.612T>A
Xg.53382348G>ACA516688045SMC1Ac.3321C>T (p.Tyr1107=)
c.2553C>T (p.Tyr851=)
c.3255C>T (p.Tyr1085=)
n.177C>T
c.611C>T
Xg.53382348G>CCA413243530SMC1Ac.3321C>G (p.Tyr1107Ter)
c.2553C>G (p.Tyr851Ter)
c.3255C>G (p.Tyr1085Ter)
n.177C>G
c.611C>G
Xg.53382348G>TCA413243531SMC1Ac.3321C>A (p.Tyr1107Ter)
c.2553C>A (p.Tyr851Ter)
c.3255C>A (p.Tyr1085Ter)
n.177C>A
c.611C>A
Xg.53382349T>ACA413243532SMC1Ac.3320A>T (p.Tyr1107Phe)
c.2552A>T (p.Tyr851Phe)
c.3254A>T (p.Tyr1085Phe)
n.176A>T
c.610A>T
 dbSNP
Xg.53382349T>CCA413243533SMC1Ac.3320A>G (p.Tyr1107Cys)
c.2552A>G (p.Tyr851Cys)
c.3254A>G (p.Tyr1085Cys)
n.176A>G
c.610A>G
Xg.53382349T>GCA413243534SMC1Ac.3320A>C (p.Tyr1107Ser)
c.2552A>C (p.Tyr851Ser)
c.3254A>C (p.Tyr1085Ser)
n.176A>C
c.610A>C
Xg.53382349T=CA2429817418SMC1Ac.3320A= (p.Tyr1107=)
c.2552A= (p.Tyr851=)
c.3254A= (p.Tyr1085=)
n.176A=
c.610A=
Xg.53382350A>CCA413243537SMC1Ac.3319T>G (p.Tyr1107Asp)
c.2551T>G (p.Tyr851Asp)
c.3253T>G (p.Tyr1085Asp)
n.175T>G
c.609T>G
Xg.53382350A>GCA413243539SMC1Ac.3319T>C (p.Tyr1107His)
c.2551T>C (p.Tyr851His)
c.3253T>C (p.Tyr1085His)
n.175T>C
c.609T>C
Xg.53382350A>TCA413243541SMC1Ac.3319T>A (p.Tyr1107Asn)
c.2551T>A (p.Tyr851Asn)
c.3253T>A (p.Tyr1085Asn)
n.175T>A
c.609T>A
Xg.53382351G>ACA516688487SMC1Ac.3318C>T (p.Pro1106=)
c.2550C>T (p.Pro850=)
c.3252C>T (p.Pro1084=)
n.174C>T
c.608C>T
Xg.53382351G>CCA516688488SMC1Ac.3318C>G (p.Pro1106=)
c.2550C>G (p.Pro850=)
c.3252C>G (p.Pro1084=)
n.174C>G
c.608C>G
Xg.53382351G>TCA516688489SMC1Ac.3318C>A (p.Pro1106=)
c.2550C>A (p.Pro850=)
c.3252C>A (p.Pro1084=)
n.174C>A
c.608C>A
Xg.53382352G>ACA413243544SMC1Ac.3317C>T (p.Pro1106Leu)
c.2549C>T (p.Pro850Leu)
c.3251C>T (p.Pro1084Leu)
n.173C>T
c.607C>T
Xg.53382352G>CCA413243546SMC1Ac.3317C>G (p.Pro1106Arg)
c.2549C>G (p.Pro850Arg)
c.3251C>G (p.Pro1084Arg)
n.173C>G
c.607C>G
Xg.53382352G>TCA413243548SMC1Ac.3317C>A (p.Pro1106His)
c.2549C>A (p.Pro850His)
c.3251C>A (p.Pro1084His)
n.173C>A
c.607C>A
Xg.53382353G>ACA413243553SMC1Ac.3316C>T (p.Pro1106Ser)
c.2548C>T (p.Pro850Ser)
c.3250C>T (p.Pro1084Ser)
n.172C>T
c.606C>T
 COSMIC
Xg.53382353G>CCA413243555SMC1Ac.3316C>G (p.Pro1106Ala)
c.2548C>G (p.Pro850Ala)
c.3250C>G (p.Pro1084Ala)
n.172C>G
c.606C>G
Xg.53382353G>TCA413243551SMC1Ac.3316C>A (p.Pro1106Thr)
c.2548C>A (p.Pro850Thr)
c.3250C>A (p.Pro1084Thr)
n.172C>A
c.606C>A
Xg.53382354C>ACA413243558SMC1Ac.3315G>T (p.Glu1105Asp)
c.2547G>T (p.Glu849Asp)
c.3249G>T (p.Glu1083Asp)
n.171G>T
c.605G>T
Xg.53382354C>GCA413243556SMC1Ac.3315G>C (p.Glu1105Asp)
c.2547G>C (p.Glu849Asp)
c.3249G>C (p.Glu1083Asp)
n.171G>C
c.605G>C
Xg.53382354C>TCA516688490SMC1Ac.3315G>A (p.Glu1105=)
c.2547G>A (p.Glu849=)
c.3249G>A (p.Glu1083=)
n.171G>A
c.605G>A
 gnomAD v4
Xg.53382355T>ACA413243559SMC1Ac.3314A>T (p.Glu1105Val)
c.2546A>T (p.Glu849Val)
c.3248A>T (p.Glu1083Val)
n.170A>T
c.604A>T
Xg.53382355T>CCA413243561SMC1Ac.3314A>G (p.Glu1105Gly)
c.2546A>G (p.Glu849Gly)
c.3248A>G (p.Glu1083Gly)
n.170A>G
c.604A>G
Xg.53382355T>GCA413243563SMC1Ac.3314A>C (p.Glu1105Ala)
c.2546A>C (p.Glu849Ala)
c.3248A>C (p.Glu1083Ala)
n.170A>C
c.604A>C
Xg.53382356C>ACA413243565SMC1Ac.3313G>T (p.Glu1105Ter)
c.2545G>T (p.Glu849Ter)
c.3247G>T (p.Glu1083Ter)
n.169G>T
c.603G>T
Xg.53382356C>GCA413243567SMC1Ac.3313G>C (p.Glu1105Gln)
c.2545G>C (p.Glu849Gln)
c.3247G>C (p.Glu1083Gln)
n.169G>C
c.603G>C
Xg.53382356C>TCA413243569SMC1Ac.3313G>A (p.Glu1105Lys)
c.2545G>A (p.Glu849Lys)
c.3247G>A (p.Glu1083Lys)
n.169G>A
c.603G>A
Xg.53382357T>ACA413243571SMC1Ac.3312A>T (p.Glu1104Asp)
c.2544A>T (p.Glu848Asp)
c.3246A>T (p.Glu1082Asp)
n.168A>T
c.602A>T
Xg.53382357T>CCA516688491SMC1Ac.3312A>G (p.Glu1104=)
c.2544A>G (p.Glu848=)
c.3246A>G (p.Glu1082=)
n.168A>G
c.602A>G
Xg.53382357T>GCA413243573SMC1Ac.3312A>C (p.Glu1104Asp)
c.2544A>C (p.Glu848Asp)
c.3246A>C (p.Glu1082Asp)
n.168A>C
c.602A>C
Xg.53382358_53382365delCA2695234306SMC1Ac.3305_3312del (p.Asn1102ArgfsTer?)
c.2537_2544del (p.Asn846ArgfsTer?)
c.3239_3246del (p.Asn1080ArgfsTer?)
n.161_168del
c.595_602del
Xg.53382358T>ACA413243575SMC1Ac.3311A>T (p.Glu1104Val)
c.2543A>T (p.Glu848Val)
c.3245A>T (p.Glu1082Val)
n.167A>T
c.601A>T
Xg.53382358T>CCA413243576SMC1Ac.3311A>G (p.Glu1104Gly)
c.2543A>G (p.Glu848Gly)
c.3245A>G (p.Glu1082Gly)
n.167A>G
c.601A>G
Xg.53382358T>GCA413243578SMC1Ac.3311A>C (p.Glu1104Ala)
c.2543A>C (p.Glu848Ala)
c.3245A>C (p.Glu1082Ala)
n.167A>C
c.601A>C
Xg.53382359C>ACA413243584SMC1Ac.3310G>T (p.Glu1104Ter)
c.2542G>T (p.Glu848Ter)
c.3244G>T (p.Glu1082Ter)
n.166G>T
c.600G>T
Xg.53382359C>GCA413243580SMC1Ac.3310G>C (p.Glu1104Gln)
c.2542G>C (p.Glu848Gln)
c.3244G>C (p.Glu1082Gln)
n.166G>C
c.600G>C
Xg.53382359C>TCA413243582SMC1Ac.3310G>A (p.Glu1104Lys)
c.2542G>A (p.Glu848Lys)
c.3244G>A (p.Glu1082Lys)
n.166G>A
c.600G>A
Xg.53382360A>CCA516688492SMC1Ac.3309T>G (p.Pro1103=)
c.2541T>G (p.Pro847=)
c.3243T>G (p.Pro1081=)
n.165T>G
c.599T>G
Xg.53382360A>GCA516688493SMC1Ac.3309T>C (p.Pro1103=)
c.2541T>C (p.Pro847=)
c.3243T>C (p.Pro1081=)
n.165T>C
c.599T>C
 gnomAD v4
Xg.53382360A>TCA516688494SMC1Ac.3309T>A (p.Pro1103=)
c.2541T>A (p.Pro847=)
c.3243T>A (p.Pro1081=)
n.165T>A
c.599T>A
Xg.53382361G>ACA413243586SMC1Ac.3308C>T (p.Pro1103Leu)
c.2540C>T (p.Pro847Leu)
c.3242C>T (p.Pro1081Leu)
n.164C>T
c.598C>T
Xg.53382361G>CCA413243588SMC1Ac.3308C>G (p.Pro1103Arg)
c.2540C>G (p.Pro847Arg)
c.3242C>G (p.Pro1081Arg)
n.164C>G
c.598C>G
Xg.53382361G>TCA413243590SMC1Ac.3308C>A (p.Pro1103His)
c.2540C>A (p.Pro847His)
c.3242C>A (p.Pro1081His)
n.164C>A
c.598C>A
Xg.53382362G>ACA413243593SMC1Ac.3307C>T (p.Pro1103Ser)
c.2539C>T (p.Pro847Ser)
c.3241C>T (p.Pro1081Ser)
n.163C>T
c.597C>T
Xg.53382362G>CCA413243595SMC1Ac.3307C>G (p.Pro1103Ala)
c.2539C>G (p.Pro847Ala)
c.3241C>G (p.Pro1081Ala)
n.163C>G
c.597C>G
 gnomAD v4
Xg.53382362G>TCA413243597SMC1Ac.3307C>A (p.Pro1103Thr)
c.2539C>A (p.Pro847Thr)
c.3241C>A (p.Pro1081Thr)
n.163C>A
c.597C>A
Xg.53382363G>ACA516688495SMC1Ac.3306C>T (p.Asn1102=)
c.2538C>T (p.Asn846=)
c.3240C>T (p.Asn1080=)
n.162C>T
c.596C>T
 ClinVar dbSNP gnomAD v4
Xg.53382363G>CCA208176SMC1Ac.3306C>G (p.Asn1102Lys)
c.2538C>G (p.Asn846Lys)
c.3240C>G (p.Asn1080Lys)
n.162C>G
c.596C>G
 ClinVar dbSNP
Xg.53382363G=CA2429817419SMC1Ac.3306C= (p.Asn1102=)
c.2538C= (p.Asn846=)
c.3240C= (p.Asn1080=)
n.162C=
c.596C=
Xg.53382363G>TCA413243600SMC1Ac.3306C>A (p.Asn1102Lys)
c.2538C>A (p.Asn846Lys)
c.3240C>A (p.Asn1080Lys)
n.162C>A
c.596C>A
Xg.53382364T>ACA413243602SMC1Ac.3305A>T (p.Asn1102Ile)
c.2537A>T (p.Asn846Ile)
c.3239A>T (p.Asn1080Ile)
n.161A>T
c.595A>T
Xg.53382364T>CCA413243604SMC1Ac.3305A>G (p.Asn1102Ser)
c.2537A>G (p.Asn846Ser)
c.3239A>G (p.Asn1080Ser)
n.161A>G
c.595A>G
 ClinVar dbSNP
Xg.53382364T>GCA413243606SMC1Ac.3305A>C (p.Asn1102Thr)
c.2537A>C (p.Asn846Thr)
c.3239A>C (p.Asn1080Thr)
n.161A>C
c.595A>C
Xg.53382365T>ACA413243610SMC1Ac.3304A>T (p.Asn1102Tyr)
c.2536A>T (p.Asn846Tyr)
c.3238A>T (p.Asn1080Tyr)
n.160A>T
c.594A>T
Xg.53382365T>CCA10420303SMC1Ac.3304A>G (p.Asn1102Asp)
c.2536A>G (p.Asn846Asp)
c.3238A>G (p.Asn1080Asp)
n.160A>G
c.594A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53382365T>GCA413243608SMC1Ac.3304A>C (p.Asn1102His)
c.2536A>C (p.Asn846His)
c.3238A>C (p.Asn1080His)
n.160A>C
c.594A>C
Xg.53382365T=CA2429817420SMC1Ac.3304A= (p.Asn1102=)
c.2536A= (p.Asn846=)
c.3238A= (p.Asn1080=)
n.160A=
c.594A=
Xg.53382366C>ACA413243613SMC1Ac.3303G>T (p.Glu1101Asp)
c.2535G>T (p.Glu845Asp)
c.3237G>T (p.Glu1079Asp)
n.159G>T
c.593G>T
Xg.53382366C>GCA413243614SMC1Ac.3303G>C (p.Glu1101Asp)
c.2535G>C (p.Glu845Asp)
c.3237G>C (p.Glu1079Asp)
n.159G>C
c.593G>C
 gnomAD v4
Xg.53382366C>TCA516688496SMC1Ac.3303G>A (p.Glu1101=)
c.2535G>A (p.Glu845=)
c.3237G>A (p.Glu1079=)
n.159G>A
c.593G>A
 gnomAD v4
Xg.53382367T>ACA413243616SMC1Ac.3302A>T (p.Glu1101Val)
c.2534A>T (p.Glu845Val)
c.3236A>T (p.Glu1079Val)
n.158A>T
c.592A>T
Xg.53382367T>CCA413243618SMC1Ac.3302A>G (p.Glu1101Gly)
c.2534A>G (p.Glu845Gly)
c.3236A>G (p.Glu1079Gly)
n.158A>G
c.592A>G
Xg.53382367T>GCA413243620SMC1Ac.3302A>C (p.Glu1101Ala)
c.2534A>C (p.Glu845Ala)
c.3236A>C (p.Glu1079Ala)
n.158A>C
c.592A>C
Xg.53382368C>ACA413243629SMC1Ac.3301G>T (p.Glu1101Ter)
c.2533G>T (p.Glu845Ter)
c.3235G>T (p.Glu1079Ter)
n.157G>T
c.591G>T
Xg.53382368C>GCA413243627SMC1Ac.3301G>C (p.Glu1101Gln)
c.2533G>C (p.Glu845Gln)
c.3235G>C (p.Glu1079Gln)
n.157G>C
c.591G>C
Xg.53382368C>TCA413243622SMC1Ac.3301G>A (p.Glu1101Lys)
c.2533G>A (p.Glu845Lys)
c.3235G>A (p.Glu1079Lys)
n.157G>A
c.591G>A
Xg.53382369A>CCA516688497SMC1Ac.3300T>G (p.Pro1100=)
c.2532T>G (p.Pro844=)
c.3234T>G (p.Pro1078=)
n.156T>G
c.590T>G
Xg.53382369A>GCA516688498SMC1Ac.3300T>C (p.Pro1100=)
c.2532T>C (p.Pro844=)
c.3234T>C (p.Pro1078=)
n.156T>C
c.590T>C
 gnomAD v4
Xg.53382369A>TCA516688499SMC1Ac.3300T>A (p.Pro1100=)
c.2532T>A (p.Pro844=)
c.3234T>A (p.Pro1078=)
n.156T>A
c.590T>A
Xg.53382370G>ACA413243631SMC1Ac.3299C>T (p.Pro1100Leu)
c.2531C>T (p.Pro844Leu)
c.3233C>T (p.Pro1078Leu)
n.155C>T
c.589C>T
Xg.53382370G>CCA413243633SMC1Ac.3299C>G (p.Pro1100Arg)
c.2531C>G (p.Pro844Arg)
c.3233C>G (p.Pro1078Arg)
n.155C>G
c.589C>G
Xg.53382370G>TCA413243634SMC1Ac.3299C>A (p.Pro1100His)
c.2531C>A (p.Pro844His)
c.3233C>A (p.Pro1078His)
n.155C>A
c.589C>A
 COSMIC
Xg.53382371G>ACA413243637SMC1Ac.3298C>T (p.Pro1100Ser)
c.2530C>T (p.Pro844Ser)
c.3232C>T (p.Pro1078Ser)
n.154C>T
c.588C>T
Xg.53382371G>CCA413243639SMC1Ac.3298C>G (p.Pro1100Ala)
c.2530C>G (p.Pro844Ala)
c.3232C>G (p.Pro1078Ala)
n.154C>G
c.588C>G
 COSMIC
Xg.53382371G>TCA413243641SMC1Ac.3298C>A (p.Pro1100Thr)
c.2530C>A (p.Pro844Thr)
c.3232C>A (p.Pro1078Thr)
n.154C>A
c.588C>A
Xg.53382372G>ACA516688500SMC1Ac.3297C>T (p.Gly1099=)
c.2529C>T (p.Gly843=)
c.3231C>T (p.Gly1077=)
n.153C>T
c.587C>T
 gnomAD v4
Xg.53382372G>CCA516688501SMC1Ac.3297C>G (p.Gly1099=)
c.2529C>G (p.Gly843=)
c.3231C>G (p.Gly1077=)
n.153C>G
c.587C>G
Xg.53382372G>TCA516688502SMC1Ac.3297C>A (p.Gly1099=)
c.2529C>A (p.Gly843=)
c.3231C>A (p.Gly1077=)
n.153C>A
c.587C>A
Xg.53382373C>ACA413243644SMC1Ac.3296G>T (p.Gly1099Val)
c.2528G>T (p.Gly843Val)
c.3230G>T (p.Gly1077Val)
n.152G>T
c.586G>T
Xg.53382373C>GCA413243648SMC1Ac.3296G>C (p.Gly1099Ala)
c.2528G>C (p.Gly843Ala)
c.3230G>C (p.Gly1077Ala)
n.152G>C
c.586G>C
Xg.53382373C>TCA413243645SMC1Ac.3296G>A (p.Gly1099Asp)
c.2528G>A (p.Gly843Asp)
c.3230G>A (p.Gly1077Asp)
n.152G>A
c.586G>A
Xg.53382374C>ACA413243649SMC1Ac.3295G>T (p.Gly1099Cys)
c.2527G>T (p.Gly843Cys)
c.3229G>T (p.Gly1077Cys)
n.151G>T
c.585G>T
Xg.53382374C>GCA413243651SMC1Ac.3295G>C (p.Gly1099Arg)
c.2527G>C (p.Gly843Arg)
c.3229G>C (p.Gly1077Arg)
n.151G>C
c.585G>C
Xg.53382374C>TCA413243653SMC1Ac.3295G>A (p.Gly1099Ser)
c.2527G>A (p.Gly843Ser)
c.3229G>A (p.Gly1077Ser)
n.151G>A
c.585G>A
Xg.53382375C>ACA516688503SMC1Ac.3294G>T (p.Leu1098=)
c.2526G>T (p.Leu842=)
c.3228G>T (p.Leu1076=)
n.150G>T
c.584G>T
Xg.53382375C>GCA516688504SMC1Ac.3294G>C (p.Leu1098=)
c.2526G>C (p.Leu842=)
c.3228G>C (p.Leu1076=)
n.150G>C
c.584G>C
Xg.53382375C>TCA516688505SMC1Ac.3294G>A (p.Leu1098=)
c.2526G>A (p.Leu842=)
c.3228G>A (p.Leu1076=)
n.150G>A
c.584G>A
Xg.53382376A>CCA413243655SMC1Ac.3293T>G (p.Leu1098Arg)
c.2525T>G (p.Leu842Arg)
c.3227T>G (p.Leu1076Arg)
n.149T>G
c.583T>G
Xg.53382376A>GCA413243657SMC1Ac.3293T>C (p.Leu1098Pro)
c.2525T>C (p.Leu842Pro)
c.3227T>C (p.Leu1076Pro)
n.149T>C
c.583T>C
Xg.53382376A>TCA413243659SMC1Ac.3293T>A (p.Leu1098Gln)
c.2525T>A (p.Leu842Gln)
c.3227T>A (p.Leu1076Gln)
n.149T>A
c.583T>A
Xg.53382377G>ACA516688506SMC1Ac.3292C>T (p.Leu1098=)
c.2524C>T (p.Leu842=)
c.3226C>T (p.Leu1076=)
n.148C>T
c.582C>T
 gnomAD v4
Xg.53382377G>CCA413243660SMC1Ac.3292C>G (p.Leu1098Val)
c.2524C>G (p.Leu842Val)
c.3226C>G (p.Leu1076Val)
n.148C>G
c.582C>G
Xg.53382377G>TCA413243661SMC1Ac.3292C>A (p.Leu1098Met)
c.2524C>A (p.Leu842Met)
c.3226C>A (p.Leu1076Met)
n.148C>A
c.582C>A
Xg.53382378G>ACA516688507SMC1Ac.3291C>T (p.Phe1097=)
c.2523C>T (p.Phe841=)
c.3225C>T (p.Phe1075=)
n.147C>T
c.581C>T
 gnomAD v4
Xg.53382378G>CCA413243663SMC1Ac.3291C>G (p.Phe1097Leu)
c.2523C>G (p.Phe841Leu)
c.3225C>G (p.Phe1075Leu)
n.147C>G
c.581C>G
Xg.53382378G>TCA413243665SMC1Ac.3291C>A (p.Phe1097Leu)
c.2523C>A (p.Phe841Leu)
c.3225C>A (p.Phe1075Leu)
n.147C>A
c.581C>A
Xg.53382379A=CA2429817421SMC1Ac.3290T= (p.Phe1097=)
c.2522T= (p.Phe841=)
c.3224T= (p.Phe1075=)
n.146T=
c.580T=
Xg.53382379A>CCA413243667SMC1Ac.3290T>G (p.Phe1097Cys)
c.2522T>G (p.Phe841Cys)
c.3224T>G (p.Phe1075Cys)
n.146T>G
c.580T>G
Xg.53382379A>GCA413243669SMC1Ac.3290T>C (p.Phe1097Ser)
c.2522T>C (p.Phe841Ser)
c.3224T>C (p.Phe1075Ser)
n.146T>C
c.580T>C
Xg.53382379A>TCA413243671SMC1Ac.3290T>A (p.Phe1097Tyr)
c.2522T>A (p.Phe841Tyr)
c.3224T>A (p.Phe1075Tyr)
n.146T>A
c.580T>A
 ClinVar dbSNP
Xg.53382380delCA2579615578SMC1Ac.3290del (p.Phe1097SerfsTer?)
c.2522del (p.Phe841SerfsTer?)
c.3224del (p.Phe1075SerfsTer?)
n.146del
c.580del
Xg.53382380A>CCA413243675SMC1Ac.3289T>G (p.Phe1097Val)
c.2521T>G (p.Phe841Val)
c.3223T>G (p.Phe1075Val)
n.145T>G
c.579T>G
Xg.53382380A>GCA413243676SMC1Ac.3289T>C (p.Phe1097Leu)
c.2521T>C (p.Phe841Leu)
c.3223T>C (p.Phe1075Leu)
n.145T>C
c.579T>C
Xg.53382380A>TCA413243673SMC1Ac.3289T>A (p.Phe1097Ile)
c.2521T>A (p.Phe841Ile)
c.3223T>A (p.Phe1075Ile)
n.145T>A
c.579T>A
Xg.53382381T>ACA516688510SMC1Ac.3288A>T (p.Ala1096=)
c.2520A>T (p.Ala840=)
c.3222A>T (p.Ala1074=)
n.144A>T
c.578A>T
Xg.53382381T>CCA516688509SMC1Ac.3288A>G (p.Ala1096=)
c.2520A>G (p.Ala840=)
c.3222A>G (p.Ala1074=)
n.144A>G
c.578A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53382381T>GCA516688508SMC1Ac.3288A>C (p.Ala1096=)
c.2520A>C (p.Ala840=)
c.3222A>C (p.Ala1074=)
n.144A>C
c.578A>C
Xg.53382381T=CA2429817422SMC1Ac.3288A= (p.Ala1096=)
c.2520A= (p.Ala840=)
c.3222A= (p.Ala1074=)
n.144A=
c.578A=
Xg.53382382G>ACA413243681SMC1Ac.3287C>T (p.Ala1096Val)
c.2519C>T (p.Ala840Val)
c.3221C>T (p.Ala1074Val)
n.143C>T
c.577C>T
Xg.53382382G>CCA413243679SMC1Ac.3287C>G (p.Ala1096Gly)
c.2519C>G (p.Ala840Gly)
c.3221C>G (p.Ala1074Gly)
n.143C>G
c.577C>G
Xg.53382382G>TCA413243682SMC1Ac.3287C>A (p.Ala1096Glu)
c.2519C>A (p.Ala840Glu)
c.3221C>A (p.Ala1074Glu)
n.143C>A
c.577C>A
Xg.53382383C>ACA413243683SMC1Ac.3286G>T (p.Ala1096Ser)
c.2518G>T (p.Ala840Ser)
c.3220G>T (p.Ala1074Ser)
n.142G>T
c.576G>T
Xg.53382383C>GCA413243684SMC1Ac.3286G>C (p.Ala1096Pro)
c.2518G>C (p.Ala840Pro)
c.3220G>C (p.Ala1074Pro)
n.142G>C
c.576G>C
Xg.53382383C>TCA413243685SMC1Ac.3286G>A (p.Ala1096Thr)
c.2518G>A (p.Ala840Thr)
c.3220G>A (p.Ala1074Thr)
n.142G>A
c.576G>A
Xg.53382384C>ACA413243686SMC1Ac.3286-1G>T (n.3286-1G>T)
c.2518-1G>T (n.2518-1G>T)
c.3220-1G>T (n.3220-1G>T)
n.142-1G>T
c.576-1G>T
Xg.53382384C>GCA413243687SMC1Ac.3286-1G>C (n.3286-1G>C)
c.2518-1G>C (n.2518-1G>C)
c.3220-1G>C (n.3220-1G>C)
n.142-1G>C
c.576-1G>C
Xg.53382384C>TCA413243688SMC1Ac.3286-1G>A (n.3286-1G>A)
c.2518-1G>A (n.2518-1G>A)
c.3220-1G>A (n.3220-1G>A)
n.142-1G>A
c.576-1G>A
Xg.53382385T>ACA413243689SMC1Ac.3286-2A>T (n.3286-2A>T)
c.2518-2A>T (n.2518-2A>T)
c.3220-2A>T (n.3220-2A>T)
n.142-2A>T
c.576-2A>T
Xg.53382385T>CCA413243690SMC1Ac.3286-2A>G (n.3286-2A>G)
c.2518-2A>G (n.2518-2A>G)
c.3220-2A>G (n.3220-2A>G)
n.142-2A>G
c.576-2A>G
Xg.53382385T>GCA413243691SMC1Ac.3286-2A>C (n.3286-2A>C)
c.2518-2A>C (n.2518-2A>C)
c.3220-2A>C (n.3220-2A>C)
n.142-2A>C
c.576-2A>C
Xg.53382386_53382387delinsAGCA2429817423SMC1Ac.3286-4_3286-3delinsCT (n.3286-4_3286-3delinsCT)
c.2518-4_2518-3delinsCT (n.2518-4_2518-3delinsCT)
c.3220-4_3220-3delinsCT (n.3220-4_3220-3delinsCT)
n.142-4_142-3delinsCT
c.576-4_576-3delinsCT
Xg.53382387G>ACA641906875SMC1Ac.3286-4C>T (n.3286-4C>T)
c.2518-4C>T (n.2518-4C>T)
c.3220-4C>T (n.3220-4C>T)
n.142-4C>T
c.576-4C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382387G=CA2429817424SMC1Ac.3286-4C= (n.3286-4C=)
c.2518-4C= (n.2518-4C=)
c.3220-4C= (n.3220-4C=)
n.142-4C=
c.576-4C=
Xg.53382390delCA10420304SMC1Ac.3286-4del (n.3286-4del)
c.2518-4del (n.2518-4del)
c.3220-4del (n.3220-4del)
n.142-4del
c.576-4del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53382388G>CCA2740092156SMC1Ac.3286-5C>G (n.3286-5C>G)
c.2518-5C>G (n.2518-5C>G)
c.3220-5C>G (n.3220-5C>G)
n.142-5C>G
c.576-5C>G
 ClinVar
Xg.53382389G>ACA2693803806SMC1Ac.3286-6C>T (n.3286-6C>T)
c.2518-6C>T (n.2518-6C>T)
c.3220-6C>T (n.3220-6C>T)
n.142-6C>T
c.576-6C>T
 gnomAD v4
Xg.53382389G>CCA2429817426SMC1Ac.3286-6C>G (n.3286-6C>G)
c.2518-6C>G (n.2518-6C>G)
c.3220-6C>G (n.3220-6C>G)
n.142-6C>G
c.576-6C>G
 dbSNP
Xg.53382389G=CA2429817425SMC1Ac.3286-6C= (n.3286-6C=)
c.2518-6C= (n.2518-6C=)
c.3220-6C= (n.3220-6C=)
n.142-6C=
c.576-6C=
Xg.53382390G>ACA10420305SMC1Ac.3286-7C>T (n.3286-7C>T)
c.2518-7C>T (n.2518-7C>T)
c.3220-7C>T (n.3220-7C>T)
n.142-7C>T
c.576-7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53382390G=CA2429817427SMC1Ac.3286-7C= (n.3286-7C=)
c.2518-7C= (n.2518-7C=)
c.3220-7C= (n.3220-7C=)
n.142-7C=
c.576-7C=
Xg.53382394G>TCA2693803807SMC1Ac.3286-11C>A (n.3286-11C>A)
c.2518-11C>A (n.2518-11C>A)
c.3220-11C>A (n.3220-11C>A)
n.142-11C>A
c.576-11C>A
 gnomAD v4
Xg.53382396A>CCA2693803808SMC1Ac.3286-13T>G (n.3286-13T>G)
c.2518-13T>G (n.2518-13T>G)
c.3220-13T>G (n.3220-13T>G)
n.142-13T>G
c.576-13T>G
 gnomAD v4
Xg.53382399T>CCA876270850SMC1Ac.3286-16A>G (n.3286-16A>G)
c.2518-16A>G (n.2518-16A>G)
c.3220-16A>G (n.3220-16A>G)
n.142-16A>G
c.576-16A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53382399T=CA2429817428SMC1Ac.3286-16A= (n.3286-16A=)
c.2518-16A= (n.2518-16A=)
c.3220-16A= (n.3220-16A=)
n.142-16A=
c.576-16A=
Xg.53382400G>ACA641906876SMC1Ac.3286-17C>T (n.3286-17C>T)
c.2518-17C>T (n.2518-17C>T)
c.3220-17C>T (n.3220-17C>T)
n.142-17C>T
c.576-17C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53382400G=CA2429817429SMC1Ac.3286-17C= (n.3286-17C=)
c.2518-17C= (n.2518-17C=)
c.3220-17C= (n.3220-17C=)
n.142-17C=
c.576-17C=
Xg.53382401G>TCA2579615579SMC1Ac.3286-18C>A (n.3286-18C>A)
c.2518-18C>A (n.2518-18C>A)
c.3220-18C>A (n.3220-18C>A)
n.142-18C>A
c.576-18C>A
 gnomAD v4
Xg.53382402G>ACA10420306SMC1Ac.3286-19C>T (n.3286-19C>T)
c.2518-19C>T (n.2518-19C>T)
c.3220-19C>T (n.3220-19C>T)
n.142-19C>T
c.576-19C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53382402G=CA2429817430SMC1Ac.3286-19C= (n.3286-19C=)
c.2518-19C= (n.2518-19C=)
c.3220-19C= (n.3220-19C=)
n.142-19C=
c.576-19C=
Xg.53382402G>TCA2693803809SMC1Ac.3286-19C>A (n.3286-19C>A)
c.2518-19C>A (n.2518-19C>A)
c.3220-19C>A (n.3220-19C>A)
n.142-19C>A
c.576-19C>A
 gnomAD v4
Xg.53382404C>ACA641906877SMC1Ac.3286-21G>T (n.3286-21G>T)
c.2518-21G>T (n.2518-21G>T)
c.3220-21G>T (n.3220-21G>T)
n.142-21G>T
c.576-21G>T
 dbSNP gnomAD v2
Xg.53382404C=CA2429817431SMC1Ac.3286-21G= (n.3286-21G=)
c.2518-21G= (n.2518-21G=)
c.3220-21G= (n.3220-21G=)
n.142-21G=
c.576-21G=

Number of alleles fetched