Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53382196G>ACA516687962SMC1Ac.3437+36C>T (n.3437+36C>T)
c.2669+36C>T (n.2669+36C>T)
c.3371+36C>T (n.3371+36C>T)
n.329C>T
c.727+36C>T
Xg.53382196G>TCA2579615574SMC1Ac.3437+36C>A (n.3437+36C>A)
c.2669+36C>A (n.2669+36C>A)
c.3371+36C>A (n.3371+36C>A)
n.329C>A
c.727+36C>A
Xg.53382198C>ACA10420296SMC1Ac.3437+34G>T (n.3437+34G>T)
c.2669+34G>T (n.2669+34G>T)
c.3371+34G>T (n.3371+34G>T)
n.327G>T
c.727+34G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382198C=CA2429817396SMC1Ac.3437+34G= (n.3437+34G=)
c.2669+34G= (n.2669+34G=)
c.3371+34G= (n.3371+34G=)
n.327G=
c.727+34G=
Xg.53382198C>TCA1133167748SMC1Ac.3437+34G>A (n.3437+34G>A)
c.2669+34G>A (n.2669+34G>A)
c.3371+34G>A (n.3371+34G>A)
n.327G>A
c.727+34G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53382203C>ACA2820953832SMC1Ac.3437+29G>T (n.3437+29G>T)
c.2669+29G>T (n.2669+29G>T)
c.3371+29G>T (n.3371+29G>T)
n.322G>T
c.727+29G>T
Xg.53382203C=CA2429817397SMC1Ac.3437+29G= (n.3437+29G=)
c.2669+29G= (n.2669+29G=)
c.3371+29G= (n.3371+29G=)
n.322G=
c.727+29G=
Xg.53382203C>GCA10420297SMC1Ac.3437+29G>C (n.3437+29G>C)
c.2669+29G>C (n.2669+29G>C)
c.3371+29G>C (n.3371+29G>C)
n.322G>C
c.727+29G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382203C>TCA2429817398SMC1Ac.3437+29G>A (n.3437+29G>A)
c.2669+29G>A (n.2669+29G>A)
c.3371+29G>A (n.3371+29G>A)
n.322G>A
c.727+29G>A
 dbSNP gnomAD v4
Xg.53382204G>ACA641906874SMC1Ac.3437+28C>T (n.3437+28C>T)
c.2669+28C>T (n.2669+28C>T)
c.3371+28C>T (n.3371+28C>T)
n.321C>T
c.727+28C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382204G=CA2429817399SMC1Ac.3437+28C= (n.3437+28C=)
c.2669+28C= (n.2669+28C=)
c.3371+28C= (n.3371+28C=)
n.321C=
c.727+28C=
Xg.53382208delCA2579615575SMC1Ac.3437+25del (n.3437+25del)
c.2669+25del (n.2669+25del)
c.3371+25del (n.3371+25del)
n.318del
c.727+25del
Xg.53382214delCA2579615576SMC1Ac.3437+20del (n.3437+20del)
c.2669+20del (n.2669+20del)
c.3371+20del (n.3371+20del)
n.313del
c.727+20del
Xg.53382213C=CA2429817400SMC1Ac.3437+19G= (n.3437+19G=)
c.2669+19G= (n.2669+19G=)
c.3371+19G= (n.3371+19G=)
n.312G=
c.727+19G=
Xg.53382213C>TCA1133167759SMC1Ac.3437+19G>A (n.3437+19G>A)
c.2669+19G>A (n.2669+19G>A)
c.3371+19G>A (n.3371+19G>A)
n.312G>A
c.727+19G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53382216_53382217delinsAGCA2429817401SMC1Ac.3437+15_3437+16delinsCT (n.3437+15_3437+16delinsCT)
c.2669+15_2669+16delinsCT (n.2669+15_2669+16delinsCT)
c.3371+15_3371+16delinsCT (n.3371+15_3371+16delinsCT)
n.308_309delinsCT
c.727+15_727+16delinsCT
Xg.53382217G>ACA876270569SMC1Ac.3437+15C>T (n.3437+15C>T)
c.2669+15C>T (n.2669+15C>T)
c.3371+15C>T (n.3371+15C>T)
n.308C>T
c.727+15C>T
 dbSNP
Xg.53382217G=CA2429817402SMC1Ac.3437+15C= (n.3437+15C=)
c.2669+15C= (n.2669+15C=)
c.3371+15C= (n.3371+15C=)
n.308C=
c.727+15C=
Xg.53382220delCA329906121SMC1Ac.3437+15del (n.3437+15del)
c.2669+15del (n.2669+15del)
c.3371+15del (n.3371+15del)
n.308del
c.727+15del
 dbSNP
Xg.53382218G>ACA10420298SMC1Ac.3437+14C>T (n.3437+14C>T)
c.2669+14C>T (n.2669+14C>T)
c.3371+14C>T (n.3371+14C>T)
n.307C>T
c.727+14C>T
 dbSNP ExAC gnomAD v2
Xg.53382218G=CA2429817403SMC1Ac.3437+14C= (n.3437+14C=)
c.2669+14C= (n.2669+14C=)
c.3371+14C= (n.3371+14C=)
n.307C=
c.727+14C=
Xg.53382220G>TCA2573158990SMC1Ac.3437+12C>A (n.3437+12C>A)
c.2669+12C>A (n.2669+12C>A)
c.3371+12C>A (n.3371+12C>A)
n.305C>A
c.727+12C>A
 ClinVar dbSNP gnomAD v4
Xg.53382222T>ACA10420299SMC1Ac.3437+10A>T (n.3437+10A>T)
c.2669+10A>T (n.2669+10A>T)
c.3371+10A>T (n.3371+10A>T)
n.303A>T
c.727+10A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382222T=CA2429817404SMC1Ac.3437+10A= (n.3437+10A=)
c.2669+10A= (n.2669+10A=)
c.3371+10A= (n.3371+10A=)
n.303A=
c.727+10A=
Xg.53382229T>CCA2579615577SMC1Ac.3437+3A>G (n.3437+3A>G)
c.2669+3A>G (n.2669+3A>G)
c.3371+3A>G (n.3371+3A>G)
n.296A>G
c.727+3A>G
 gnomAD v4
Xg.53382230A>CCA413243219SMC1Ac.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
Xg.53382230A>GCA413243218SMC1Ac.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
Xg.53382230A>TCA413243217SMC1Ac.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
Xg.53382231C>ACA413243220SMC1Ac.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
Xg.53382231C>GCA413243221SMC1Ac.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
Xg.53382231C>TCA413243222SMC1Ac.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
Xg.53382232C>ACA413243223SMC1Ac.3437G>T (p.Ser1146Ile)
c.2669G>T (p.Ser890Ile)
c.3371G>T (p.Ser1124Ile)
n.293G>T
c.727G>T
Xg.53382232C>GCA413243224SMC1Ac.3437G>C (p.Ser1146Thr)
c.2669G>C (p.Ser890Thr)
c.3371G>C (p.Ser1124Thr)
n.293G>C
c.727G>C
Xg.53382232C>TCA413243225SMC1Ac.3437G>A (p.Ser1146Asn)
c.2669G>A (p.Ser890Asn)
c.3371G>A (p.Ser1124Asn)
n.293G>A
c.727G>A
Xg.53382233T>ACA413243226SMC1Ac.3436A>T (p.Ser1146Cys)
c.2668A>T (p.Ser890Cys)
c.3370A>T (p.Ser1124Cys)
n.292A>T
c.726A>T
Xg.53382233T>CCA413243227SMC1Ac.3436A>G (p.Ser1146Gly)
c.2668A>G (p.Ser890Gly)
c.3370A>G (p.Ser1124Gly)
n.292A>G
c.726A>G
Xg.53382233T>GCA413243228SMC1Ac.3436A>C (p.Ser1146Arg)
c.2668A>C (p.Ser890Arg)
c.3370A>C (p.Ser1124Arg)
n.292A>C
c.726A>C
 ClinVar
Xg.53382234G>ACA516687963SMC1Ac.3435C>T (p.His1145=)
c.2667C>T (p.His889=)
c.3369C>T (p.His1123=)
n.291C>T
c.725C>T
 gnomAD v4
Xg.53382234G>CCA413243229SMC1Ac.3435C>G (p.His1145Gln)
c.2667C>G (p.His889Gln)
c.3369C>G (p.His1123Gln)
n.291C>G
c.725C>G
Xg.53382234G>TCA413243230SMC1Ac.3435C>A (p.His1145Gln)
c.2667C>A (p.His889Gln)
c.3369C>A (p.His1123Gln)
n.291C>A
c.725C>A
Xg.53382235T>ACA413243233SMC1Ac.3434A>T (p.His1145Leu)
c.2666A>T (p.His889Leu)
c.3368A>T (p.His1123Leu)
n.290A>T
c.724A>T
Xg.53382235T>CCA413243232SMC1Ac.3434A>G (p.His1145Arg)
c.2666A>G (p.His889Arg)
c.3368A>G (p.His1123Arg)
n.290A>G
c.724A>G
Xg.53382235T>GCA413243231SMC1Ac.3434A>C (p.His1145Pro)
c.2666A>C (p.His889Pro)
c.3368A>C (p.His1123Pro)
n.290A>C
c.724A>C
Xg.53382236G>ACA413243234SMC1Ac.3433C>T (p.His1145Tyr)
c.2665C>T (p.His889Tyr)
c.3367C>T (p.His1123Tyr)
n.289C>T
c.723C>T
Xg.53382236G>CCA413243235SMC1Ac.3433C>G (p.His1145Asp)
c.2665C>G (p.His889Asp)
c.3367C>G (p.His1123Asp)
n.289C>G
c.723C>G
Xg.53382236G>TCA413243236SMC1Ac.3433C>A (p.His1145Asn)
c.2665C>A (p.His889Asn)
c.3367C>A (p.His1123Asn)
n.289C>A
c.723C>A
Xg.53382237G>ACA516687964SMC1Ac.3432C>T (p.Ile1144=)
c.2664C>T (p.Ile888=)
c.3366C>T (p.Ile1122=)
n.288C>T
c.722C>T
Xg.53382237G>CCA413243237SMC1Ac.3432C>G (p.Ile1144Met)
c.2664C>G (p.Ile888Met)
c.3366C>G (p.Ile1122Met)
n.288C>G
c.722C>G
Xg.53382237G>TCA516687965SMC1Ac.3432C>A (p.Ile1144=)
c.2664C>A (p.Ile888=)
c.3366C>A (p.Ile1122=)
n.288C>A
c.722C>A
Xg.53382238A>CCA413243238SMC1Ac.3431T>G (p.Ile1144Ser)
c.2663T>G (p.Ile888Ser)
c.3365T>G (p.Ile1122Ser)
n.287T>G
c.721T>G
Xg.53382238A>GCA413243239SMC1Ac.3431T>C (p.Ile1144Thr)
c.2663T>C (p.Ile888Thr)
c.3365T>C (p.Ile1122Thr)
n.287T>C
c.721T>C
Xg.53382238A>TCA413243240SMC1Ac.3431T>A (p.Ile1144Asn)
c.2663T>A (p.Ile888Asn)
c.3365T>A (p.Ile1122Asn)
n.287T>A
c.721T>A
Xg.53382239T>ACA413243241SMC1Ac.3430A>T (p.Ile1144Phe)
c.2662A>T (p.Ile888Phe)
c.3364A>T (p.Ile1122Phe)
n.286A>T
c.720A>T
Xg.53382239T>CCA413243242SMC1Ac.3430A>G (p.Ile1144Val)
c.2662A>G (p.Ile888Val)
c.3364A>G (p.Ile1122Val)
n.286A>G
c.720A>G
Xg.53382239T>GCA413243243SMC1Ac.3430A>C (p.Ile1144Leu)
c.2662A>C (p.Ile888Leu)
c.3364A>C (p.Ile1122Leu)
n.286A>C
c.720A>C
Xg.53382240G>ACA516687966SMC1Ac.3429C>T (p.Ala1143=)
c.2661C>T (p.Ala887=)
c.3363C>T (p.Ala1121=)
n.285C>T
c.719C>T
Xg.53382240G>CCA516687967SMC1Ac.3429C>G (p.Ala1143=)
c.2661C>G (p.Ala887=)
c.3363C>G (p.Ala1121=)
n.285C>G
c.719C>G
Xg.53382240G>TCA516687968SMC1Ac.3429C>A (p.Ala1143=)
c.2661C>A (p.Ala887=)
c.3363C>A (p.Ala1121=)
n.285C>A
c.719C>A
 COSMIC
Xg.53382241G>ACA413243244SMC1Ac.3428C>T (p.Ala1143Val)
c.2660C>T (p.Ala887Val)
c.3362C>T (p.Ala1121Val)
n.284C>T
c.718C>T
Xg.53382241G>CCA413243245SMC1Ac.3428C>G (p.Ala1143Gly)
c.2660C>G (p.Ala887Gly)
c.3362C>G (p.Ala1121Gly)
n.284C>G
c.718C>G
Xg.53382241G>TCA413243246SMC1Ac.3428C>A (p.Ala1143Asp)
c.2660C>A (p.Ala887Asp)
c.3362C>A (p.Ala1121Asp)
n.284C>A
c.718C>A
Xg.53382242C>ACA413243248SMC1Ac.3427G>T (p.Ala1143Ser)
c.2659G>T (p.Ala887Ser)
c.3361G>T (p.Ala1121Ser)
n.283G>T
c.717G>T
Xg.53382242C>GCA413243249SMC1Ac.3427G>C (p.Ala1143Pro)
c.2659G>C (p.Ala887Pro)
c.3361G>C (p.Ala1121Pro)
n.283G>C
c.717G>C
Xg.53382242C>TCA413243247SMC1Ac.3427G>A (p.Ala1143Thr)
c.2659G>A (p.Ala887Thr)
c.3361G>A (p.Ala1121Thr)
n.283G>A
c.717G>A
Xg.53382243A>CCA413243251SMC1Ac.3426T>G (p.Phe1142Leu)
c.2658T>G (p.Phe886Leu)
c.3360T>G (p.Phe1120Leu)
n.282T>G
c.716T>G
Xg.53382243A>GCA516687969SMC1Ac.3426T>C (p.Phe1142=)
c.2658T>C (p.Phe886=)
c.3360T>C (p.Phe1120=)
n.282T>C
c.716T>C
Xg.53382243A>TCA413243250SMC1Ac.3426T>A (p.Phe1142Leu)
c.2658T>A (p.Phe886Leu)
c.3360T>A (p.Phe1120Leu)
n.282T>A
c.716T>A
Xg.53382244A>CCA413243252SMC1Ac.3425T>G (p.Phe1142Cys)
c.2657T>G (p.Phe886Cys)
c.3359T>G (p.Phe1120Cys)
n.281T>G
c.715T>G
Xg.53382244A>GCA413243253SMC1Ac.3425T>C (p.Phe1142Ser)
c.2657T>C (p.Phe886Ser)
c.3359T>C (p.Phe1120Ser)
n.281T>C
c.715T>C
Xg.53382244A>TCA413243254SMC1Ac.3425T>A (p.Phe1142Tyr)
c.2657T>A (p.Phe886Tyr)
c.3359T>A (p.Phe1120Tyr)
n.281T>A
c.715T>A
Xg.53382245A>CCA413243255SMC1Ac.3424T>G (p.Phe1142Val)
c.2656T>G (p.Phe886Val)
c.3358T>G (p.Phe1120Val)
n.280T>G
c.714T>G
Xg.53382245A>GCA413243256SMC1Ac.3424T>C (p.Phe1142Leu)
c.2656T>C (p.Phe886Leu)
c.3358T>C (p.Phe1120Leu)
n.280T>C
c.714T>C
Xg.53382245A>TCA413243257SMC1Ac.3424T>A (p.Phe1142Ile)
c.2656T>A (p.Phe886Ile)
c.3358T>A (p.Phe1120Ile)
n.280T>A
c.714T>A
Xg.53382246G>ACA516687970SMC1Ac.3423C>T (p.Leu1141=)
c.2655C>T (p.Leu885=)
c.3357C>T (p.Leu1119=)
n.279C>T
c.713C>T
Xg.53382246G>CCA516687971SMC1Ac.3423C>G (p.Leu1141=)
c.2655C>G (p.Leu885=)
c.3357C>G (p.Leu1119=)
n.279C>G
c.713C>G
Xg.53382246G>TCA516687972SMC1Ac.3423C>A (p.Leu1141=)
c.2655C>A (p.Leu885=)
c.3357C>A (p.Leu1119=)
n.279C>A
c.713C>A
Xg.53382247A>CCA413243258SMC1Ac.3422T>G (p.Leu1141Arg)
c.2654T>G (p.Leu885Arg)
c.3356T>G (p.Leu1119Arg)
n.278T>G
c.712T>G
Xg.53382247A>GCA413243259SMC1Ac.3422T>C (p.Leu1141Pro)
c.2654T>C (p.Leu885Pro)
c.3356T>C (p.Leu1119Pro)
n.278T>C
c.712T>C
 ClinVar
Xg.53382247A>TCA413243260SMC1Ac.3422T>A (p.Leu1141His)
c.2654T>A (p.Leu885His)
c.3356T>A (p.Leu1119His)
n.278T>A
c.712T>A
Xg.53382248G>ACA413243261SMC1Ac.3421C>T (p.Leu1141Phe)
c.2653C>T (p.Leu885Phe)
c.3355C>T (p.Leu1119Phe)
n.277C>T
c.711C>T
Xg.53382248G>CCA413243262SMC1Ac.3421C>G (p.Leu1141Val)
c.2653C>G (p.Leu885Val)
c.3355C>G (p.Leu1119Val)
n.277C>G
c.711C>G
Xg.53382248G>TCA413243263SMC1Ac.3421C>A (p.Leu1141Ile)
c.2653C>A (p.Leu885Ile)
c.3355C>A (p.Leu1119Ile)
n.277C>A
c.711C>A
Xg.53382249C>ACA516687973SMC1Ac.3420G>T (p.Leu1140=)
c.2652G>T (p.Leu884=)
c.3354G>T (p.Leu1118=)
n.276G>T
c.710G>T
Xg.53382249C>GCA516687974SMC1Ac.3420G>C (p.Leu1140=)
c.2652G>C (p.Leu884=)
c.3354G>C (p.Leu1118=)
n.276G>C
c.710G>C
Xg.53382249C>TCA516687975SMC1Ac.3420G>A (p.Leu1140=)
c.2652G>A (p.Leu884=)
c.3354G>A (p.Leu1118=)
n.276G>A
c.710G>A
Xg.53382250A>CCA413243266SMC1Ac.3419T>G (p.Leu1140Arg)
c.2651T>G (p.Leu884Arg)
c.3353T>G (p.Leu1118Arg)
n.275T>G
c.709T>G
Xg.53382250A>GCA413243264SMC1Ac.3419T>C (p.Leu1140Pro)
c.2651T>C (p.Leu884Pro)
c.3353T>C (p.Leu1118Pro)
n.275T>C
c.709T>C
Xg.53382250A>TCA413243265SMC1Ac.3419T>A (p.Leu1140Gln)
c.2651T>A (p.Leu884Gln)
c.3353T>A (p.Leu1118Gln)
n.275T>A
c.709T>A
Xg.53382251G>ACA516687976SMC1Ac.3418C>T (p.Leu1140=)
c.2650C>T (p.Leu884=)
c.3352C>T (p.Leu1118=)
n.274C>T
c.708C>T
Xg.53382251G>CCA413243267SMC1Ac.3418C>G (p.Leu1140Val)
c.2650C>G (p.Leu884Val)
c.3352C>G (p.Leu1118Val)
n.274C>G
c.708C>G
Xg.53382251G>TCA413243268SMC1Ac.3418C>A (p.Leu1140Met)
c.2650C>A (p.Leu884Met)
c.3352C>A (p.Leu1118Met)
n.274C>A
c.708C>A
Xg.53382252G>ACA516687977SMC1Ac.3417C>T (p.Ala1139=)
c.2649C>T (p.Ala883=)
c.3351C>T (p.Ala1117=)
n.273C>T
c.707C>T
 gnomAD v4
Xg.53382252G>CCA10420300SMC1Ac.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
Xg.53382252G=CA2429817405SMC1Ac.3417C= (p.Ala1139=)
c.2649C= (p.Ala883=)
c.3351C= (p.Ala1117=)
n.273C=
c.707C=
Xg.53382252G>TCA516687978SMC1Ac.3417C>A (p.Ala1139=)
c.2649C>A (p.Ala883=)
c.3351C>A (p.Ala1117=)
n.273C>A
c.707C>A
Xg.53382253G>ACA413243269SMC1Ac.3416C>T (p.Ala1139Val)
c.2648C>T (p.Ala883Val)
c.3350C>T (p.Ala1117Val)
n.272C>T
c.706C>T
Xg.53382253G>CCA413243270SMC1Ac.3416C>G (p.Ala1139Gly)
c.2648C>G (p.Ala883Gly)
c.3350C>G (p.Ala1117Gly)
n.272C>G
c.706C>G
Xg.53382253G>TCA413243271SMC1Ac.3416C>A (p.Ala1139Asp)
c.2648C>A (p.Ala883Asp)
c.3350C>A (p.Ala1117Asp)
n.272C>A
c.706C>A
Xg.53382254C>ACA413243272SMC1Ac.3415G>T (p.Ala1139Ser)
c.2647G>T (p.Ala883Ser)
c.3349G>T (p.Ala1117Ser)
n.271G>T
c.705G>T
Xg.53382254C>GCA413243273SMC1Ac.3415G>C (p.Ala1139Pro)
c.2647G>C (p.Ala883Pro)
c.3349G>C (p.Ala1117Pro)
n.271G>C
c.705G>C
Xg.53382254C>TCA413243274SMC1Ac.3415G>A (p.Ala1139Thr)
c.2647G>A (p.Ala883Thr)
c.3349G>A (p.Ala1117Thr)
n.271G>A
c.705G>A
Xg.53382255C>ACA516687979SMC1Ac.3414G>T (p.Leu1138=)
c.2646G>T (p.Leu882=)
c.3348G>T (p.Leu1116=)
n.270G>T
c.704G>T
Xg.53382255C>GCA516687980SMC1Ac.3414G>C (p.Leu1138=)
c.2646G>C (p.Leu882=)
c.3348G>C (p.Leu1116=)
n.270G>C
c.704G>C
Xg.53382255C>TCA516687981SMC1Ac.3414G>A (p.Leu1138=)
c.2646G>A (p.Leu882=)
c.3348G>A (p.Leu1116=)
n.270G>A
c.704G>A
Xg.53382256A>CCA413243275SMC1Ac.3413T>G (p.Leu1138Arg)
c.2645T>G (p.Leu882Arg)
c.3347T>G (p.Leu1116Arg)
n.269T>G
c.703T>G
Xg.53382256A>GCA413243276SMC1Ac.3413T>C (p.Leu1138Pro)
c.2645T>C (p.Leu882Pro)
c.3347T>C (p.Leu1116Pro)
n.269T>C
c.703T>C
Xg.53382256A>TCA413243277SMC1Ac.3413T>A (p.Leu1138Gln)
c.2645T>A (p.Leu882Gln)
c.3347T>A (p.Leu1116Gln)
n.269T>A
c.703T>A
Xg.53382257G>ACA516687982SMC1Ac.3412C>T (p.Leu1138=)
c.2644C>T (p.Leu882=)
c.3346C>T (p.Leu1116=)
n.268C>T
c.702C>T
Xg.53382257G>CCA413243279SMC1Ac.3412C>G (p.Leu1138Val)
c.2644C>G (p.Leu882Val)
c.3346C>G (p.Leu1116Val)
n.268C>G
c.702C>G
Xg.53382257G>TCA413243278SMC1Ac.3412C>A (p.Leu1138Met)
c.2644C>A (p.Leu882Met)
c.3346C>A (p.Leu1116Met)
n.268C>A
c.702C>A
Xg.53382258A>CCA516687983SMC1Ac.3411T>G (p.Ala1137=)
c.2643T>G (p.Ala881=)
c.3345T>G (p.Ala1115=)
n.267T>G
c.701T>G
Xg.53382258A>GCA516687984SMC1Ac.3411T>C (p.Ala1137=)
c.2643T>C (p.Ala881=)
c.3345T>C (p.Ala1115=)
n.267T>C
c.701T>C
 gnomAD v4
Xg.53382258A>TCA516687985SMC1Ac.3411T>A (p.Ala1137=)
c.2643T>A (p.Ala881=)
c.3345T>A (p.Ala1115=)
n.267T>A
c.701T>A
Xg.53382259G>ACA413243280SMC1Ac.3410C>T (p.Ala1137Val)
c.2642C>T (p.Ala881Val)
c.3344C>T (p.Ala1115Val)
n.266C>T
c.700C>T
Xg.53382259G>CCA10420301SMC1Ac.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
Xg.53382259G=CA2429817406SMC1Ac.3410C= (p.Ala1137=)
c.2642C= (p.Ala881=)
c.3344C= (p.Ala1115=)
n.266C=
c.700C=
Xg.53382259G>TCA413243281SMC1Ac.3410C>A (p.Ala1137Asp)
c.2642C>A (p.Ala881Asp)
c.3344C>A (p.Ala1115Asp)
n.266C>A
c.700C>A
 COSMIC
Xg.53382260C>ACA413243282SMC1Ac.3409G>T (p.Ala1137Ser)
c.2641G>T (p.Ala881Ser)
c.3343G>T (p.Ala1115Ser)
n.265G>T
c.699G>T
Xg.53382260C>GCA413243283SMC1Ac.3409G>C (p.Ala1137Pro)
c.2641G>C (p.Ala881Pro)
c.3343G>C (p.Ala1115Pro)
n.265G>C
c.699G>C
Xg.53382260C>TCA413243284SMC1Ac.3409G>A (p.Ala1137Thr)
c.2641G>A (p.Ala881Thr)
c.3343G>A (p.Ala1115Thr)
n.265G>A
c.699G>A
Xg.53382261T>ACA516687986SMC1Ac.3408A>T (p.Ala1136=)
c.2640A>T (p.Ala880=)
c.3342A>T (p.Ala1114=)
n.264A>T
c.698A>T
Xg.53382261T>CCA516687987SMC1Ac.3408A>G (p.Ala1136=)
c.2640A>G (p.Ala880=)
c.3342A>G (p.Ala1114=)
n.264A>G
c.698A>G
Xg.53382261T>GCA516687988SMC1Ac.3408A>C (p.Ala1136=)
c.2640A>C (p.Ala880=)
c.3342A>C (p.Ala1114=)
n.264A>C
c.698A>C
Xg.53382262G>ACA413243287SMC1Ac.3407C>T (p.Ala1136Val)
c.2639C>T (p.Ala880Val)
c.3341C>T (p.Ala1114Val)
n.263C>T
c.697C>T
Xg.53382262G>CCA413243286SMC1Ac.3407C>G (p.Ala1136Gly)
c.2639C>G (p.Ala880Gly)
c.3341C>G (p.Ala1114Gly)
n.263C>G
c.697C>G
Xg.53382262G>TCA413243285SMC1Ac.3407C>A (p.Ala1136Glu)
c.2639C>A (p.Ala880Glu)
c.3341C>A (p.Ala1114Glu)
n.263C>A
c.697C>A
Xg.53382263C>ACA413243288SMC1Ac.3406G>T (p.Ala1136Ser)
c.2638G>T (p.Ala880Ser)
c.3340G>T (p.Ala1114Ser)
n.262G>T
c.696G>T
Xg.53382263C>GCA413243289SMC1Ac.3406G>C (p.Ala1136Pro)
c.2638G>C (p.Ala880Pro)
c.3340G>C (p.Ala1114Pro)
n.262G>C
c.696G>C
Xg.53382263C>TCA413243290SMC1Ac.3406G>A (p.Ala1136Thr)
c.2638G>A (p.Ala880Thr)
c.3340G>A (p.Ala1114Thr)
n.262G>A
c.696G>A
Xg.53382264C>ACA516687989SMC1Ac.3405G>T (p.Val1135=)
c.2637G>T (p.Val879=)
c.3339G>T (p.Val1113=)
n.261G>T
c.695G>T
Xg.53382264C>GCA516687991SMC1Ac.3405G>C (p.Val1135=)
c.2637G>C (p.Val879=)
c.3339G>C (p.Val1113=)
n.261G>C
c.695G>C
Xg.53382264C>TCA516687990SMC1Ac.3405G>A (p.Val1135=)
c.2637G>A (p.Val879=)
c.3339G>A (p.Val1113=)
n.261G>A
c.695G>A
Xg.53382265A>CCA413243291SMC1Ac.3404T>G (p.Val1135Gly)
c.2636T>G (p.Val879Gly)
c.3338T>G (p.Val1113Gly)
n.260T>G
c.694T>G
Xg.53382265A>GCA413243292SMC1Ac.3404T>C (p.Val1135Ala)
c.2636T>C (p.Val879Ala)
c.3338T>C (p.Val1113Ala)
n.260T>C
c.694T>C
Xg.53382265A>TCA413243293SMC1Ac.3404T>A (p.Val1135Glu)
c.2636T>A (p.Val879Glu)
c.3338T>A (p.Val1113Glu)
n.260T>A
c.694T>A
Xg.53382266C>ACA413243294SMC1Ac.3403G>T (p.Val1135Leu)
c.2635G>T (p.Val879Leu)
c.3337G>T (p.Val1113Leu)
n.259G>T
c.693G>T
Xg.53382266C>GCA413243296SMC1Ac.3403G>C (p.Val1135Leu)
c.2635G>C (p.Val879Leu)
c.3337G>C (p.Val1113Leu)
n.259G>C
c.693G>C
Xg.53382266C>TCA413243295SMC1Ac.3403G>A (p.Val1135Met)
c.2635G>A (p.Val879Met)
c.3337G>A (p.Val1113Met)
n.259G>A
c.693G>A
Xg.53382267T>ACA516687992SMC1Ac.3402A>T (p.Thr1134=)
c.2634A>T (p.Thr878=)
c.3336A>T (p.Thr1112=)
n.258A>T
c.692A>T
Xg.53382267T>CCA516687993SMC1Ac.3402A>G (p.Thr1134=)
c.2634A>G (p.Thr878=)
c.3336A>G (p.Thr1112=)
n.258A>G
c.692A>G
Xg.53382267T>GCA516687994SMC1Ac.3402A>C (p.Thr1134=)
c.2634A>C (p.Thr878=)
c.3336A>C (p.Thr1112=)
n.258A>C
c.692A>C
Xg.53382268G>ACA413243297SMC1Ac.3401C>T (p.Thr1134Ile)
c.2633C>T (p.Thr878Ile)
c.3335C>T (p.Thr1112Ile)
n.257C>T
c.691C>T
Xg.53382268G>CCA413243298SMC1Ac.3401C>G (p.Thr1134Arg)
c.2633C>G (p.Thr878Arg)
c.3335C>G (p.Thr1112Arg)
n.257C>G
c.691C>G
Xg.53382268G>TCA413243299SMC1Ac.3401C>A (p.Thr1134Lys)
c.2633C>A (p.Thr878Lys)
c.3335C>A (p.Thr1112Lys)
n.257C>A
c.691C>A
Xg.53382269T>ACA413243300SMC1Ac.3400A>T (p.Thr1134Ser)
c.2632A>T (p.Thr878Ser)
c.3334A>T (p.Thr1112Ser)
n.256A>T
c.690A>T
Xg.53382269T>CCA413243301SMC1Ac.3400A>G (p.Thr1134Ala)
c.2632A>G (p.Thr878Ala)
c.3334A>G (p.Thr1112Ala)
n.256A>G
c.690A>G
 dbSNP
Xg.53382269T>GCA413243302SMC1Ac.3400A>C (p.Thr1134Pro)
c.2632A>C (p.Thr878Pro)
c.3334A>C (p.Thr1112Pro)
n.256A>C
c.690A>C
Xg.53382269T=CA2429817407SMC1Ac.3400A= (p.Thr1134=)
c.2632A= (p.Thr878=)
c.3334A= (p.Thr1112=)
n.256A=
c.690A=
Xg.53382270C>ACA413243303SMC1Ac.3399G>T (p.Lys1133Asn)
c.2631G>T (p.Lys877Asn)
c.3333G>T (p.Lys1111Asn)
n.255G>T
c.689G>T
Xg.53382270C>GCA413243304SMC1Ac.3399G>C (p.Lys1133Asn)
c.2631G>C (p.Lys877Asn)
c.3333G>C (p.Lys1111Asn)
n.255G>C
c.689G>C
Xg.53382270C>TCA516687995SMC1Ac.3399G>A (p.Lys1133=)
c.2631G>A (p.Lys877=)
c.3333G>A (p.Lys1111=)
n.255G>A
c.689G>A
Xg.53382271T>ACA413243305SMC1Ac.3398A>T (p.Lys1133Met)
c.2630A>T (p.Lys877Met)
c.3332A>T (p.Lys1111Met)
n.254A>T
c.688A>T
Xg.53382271T>CCA413243306SMC1Ac.3398A>G (p.Lys1133Arg)
c.2630A>G (p.Lys877Arg)
c.3332A>G (p.Lys1111Arg)
n.254A>G
c.688A>G
 gnomAD v4
Xg.53382271T>GCA413243307SMC1Ac.3398A>C (p.Lys1133Thr)
c.2630A>C (p.Lys877Thr)
c.3332A>C (p.Lys1111Thr)
n.254A>C
c.688A>C
Xg.53382272T>ACA413243310SMC1Ac.3397A>T (p.Lys1133Ter)
c.2629A>T (p.Lys877Ter)
c.3331A>T (p.Lys1111Ter)
n.253A>T
c.687A>T
Xg.53382272T>CCA413243309SMC1Ac.3397A>G (p.Lys1133Glu)
c.2629A>G (p.Lys877Glu)
c.3331A>G (p.Lys1111Glu)
n.253A>G
c.687A>G
Xg.53382272T>GCA413243308SMC1Ac.3397A>C (p.Lys1133Gln)
c.2629A>C (p.Lys877Gln)
c.3331A>C (p.Lys1111Gln)
n.253A>C
c.687A>C
Xg.53382273C>ACA413243311SMC1Ac.3396G>T (p.Glu1132Asp)
c.2628G>T (p.Glu876Asp)
c.3330G>T (p.Glu1110Asp)
n.252G>T
c.686G>T
Xg.53382273C>GCA413243312SMC1Ac.3396G>C (p.Glu1132Asp)
c.2628G>C (p.Glu876Asp)
c.3330G>C (p.Glu1110Asp)
n.252G>C
c.686G>C
Xg.53382273C>TCA516687996SMC1Ac.3396G>A (p.Glu1132=)
c.2628G>A (p.Glu876=)
c.3330G>A (p.Glu1110=)
n.252G>A
c.686G>A
 gnomAD v4
Xg.53382274T>ACA413243313SMC1Ac.3395A>T (p.Glu1132Val)
c.2627A>T (p.Glu876Val)
c.3329A>T (p.Glu1110Val)
n.251A>T
c.685A>T
Xg.53382274T>CCA413243314SMC1Ac.3395A>G (p.Glu1132Gly)
c.2627A>G (p.Glu876Gly)
c.3329A>G (p.Glu1110Gly)
n.251A>G
c.685A>G
Xg.53382274T>GCA413243315SMC1Ac.3395A>C (p.Glu1132Ala)
c.2627A>C (p.Glu876Ala)
c.3329A>C (p.Glu1110Ala)
n.251A>C
c.685A>C
Xg.53382275C>ACA413243316SMC1Ac.3394G>T (p.Glu1132Ter)
c.2626G>T (p.Glu876Ter)
c.3328G>T (p.Glu1110Ter)
n.250G>T
c.684G>T
Xg.53382275C>GCA413243317SMC1Ac.3394G>C (p.Glu1132Gln)
c.2626G>C (p.Glu876Gln)
c.3328G>C (p.Glu1110Gln)
n.250G>C
c.684G>C
Xg.53382275C>TCA413243318SMC1Ac.3394G>A (p.Glu1132Lys)
c.2626G>A (p.Glu876Lys)
c.3328G>A (p.Glu1110Lys)
n.250G>A
c.684G>A
Xg.53382276C>ACA516687997SMC1Ac.3393G>T (p.Gly1131=)
c.2625G>T (p.Gly875=)
c.3327G>T (p.Gly1109=)
n.249G>T
c.683G>T
Xg.53382276C>GCA516687998SMC1Ac.3393G>C (p.Gly1131=)
c.2625G>C (p.Gly875=)
c.3327G>C (p.Gly1109=)
n.249G>C
c.683G>C
Xg.53382276C>TCA516687999SMC1Ac.3393G>A (p.Gly1131=)
c.2625G>A (p.Gly875=)
c.3327G>A (p.Gly1109=)
n.249G>A
c.683G>A
 COSMIC
Xg.53382277C>ACA413243319SMC1Ac.3392G>T (p.Gly1131Val)
c.2624G>T (p.Gly875Val)
c.3326G>T (p.Gly1109Val)
n.248G>T
c.682G>T
Xg.53382277C>GCA413243320SMC1Ac.3392G>C (p.Gly1131Ala)
c.2624G>C (p.Gly875Ala)
c.3326G>C (p.Gly1109Ala)
n.248G>C
c.682G>C
Xg.53382277C>TCA413243321SMC1Ac.3392G>A (p.Gly1131Glu)
c.2624G>A (p.Gly875Glu)
c.3326G>A (p.Gly1109Glu)
n.248G>A
c.682G>A
Xg.53382278C>ACA413243322SMC1Ac.3391G>T (p.Gly1131Trp)
c.2623G>T (p.Gly875Trp)
c.3325G>T (p.Gly1109Trp)
n.247G>T
c.681G>T
Xg.53382278C>GCA413243323SMC1Ac.3391G>C (p.Gly1131Arg)
c.2623G>C (p.Gly875Arg)
c.3325G>C (p.Gly1109Arg)
n.247G>C
c.681G>C
Xg.53382278C>TCA413243324SMC1Ac.3391G>A (p.Gly1131Arg)
c.2623G>A (p.Gly875Arg)
c.3325G>A (p.Gly1109Arg)
n.247G>A
c.681G>A
 COSMIC
Xg.53382279G>ACA10420302SMC1Ac.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
Xg.53382279G>CCA516688000SMC1Ac.3390C>G (p.Gly1130=)
c.2622C>G (p.Gly874=)
c.3324C>G (p.Gly1108=)
n.246C>G
c.680C>G
Xg.53382279G=CA2429817408SMC1Ac.3390C= (p.Gly1130=)
c.2622C= (p.Gly874=)
c.3324C= (p.Gly1108=)
n.246C=
c.680C=
Xg.53382279G>TCA516688001SMC1Ac.3390C>A (p.Gly1130=)
c.2622C>A (p.Gly874=)
c.3324C>A (p.Gly1108=)
n.246C>A
c.680C>A
Xg.53382280C>ACA413243325SMC1Ac.3389G>T (p.Gly1130Val)
c.2621G>T (p.Gly874Val)
c.3323G>T (p.Gly1108Val)
n.245G>T
c.679G>T
Xg.53382280C>GCA413243327SMC1Ac.3389G>C (p.Gly1130Ala)
c.2621G>C (p.Gly874Ala)
c.3323G>C (p.Gly1108Ala)
n.245G>C
c.679G>C
Xg.53382280C>TCA413243326SMC1Ac.3389G>A (p.Gly1130Asp)
c.2621G>A (p.Gly874Asp)
c.3323G>A (p.Gly1108Asp)
n.245G>A
c.679G>A
Xg.53382281C>ACA413243328SMC1Ac.3388G>T (p.Gly1130Cys)
c.2620G>T (p.Gly874Cys)
c.3322G>T (p.Gly1108Cys)
n.244G>T
c.678G>T
Xg.53382281C>GCA413243329SMC1Ac.3388G>C (p.Gly1130Arg)
c.2620G>C (p.Gly874Arg)
c.3322G>C (p.Gly1108Arg)
n.244G>C
c.678G>C
Xg.53382281C>TCA413243330SMC1Ac.3388G>A (p.Gly1130Ser)
c.2620G>A (p.Gly874Ser)
c.3322G>A (p.Gly1108Ser)
n.244G>A
c.678G>A
Xg.53382282T>ACA516688002SMC1Ac.3387A>T (p.Ser1129=)
c.2619A>T (p.Ser873=)
c.3321A>T (p.Ser1107=)
n.243A>T
c.677A>T
Xg.53382282T>CCA516688003SMC1Ac.3387A>G (p.Ser1129=)
c.2619A>G (p.Ser873=)
c.3321A>G (p.Ser1107=)
n.243A>G
c.677A>G
Xg.53382282T>GCA516688004SMC1Ac.3387A>C (p.Ser1129=)
c.2619A>C (p.Ser873=)
c.3321A>C (p.Ser1107=)
n.243A>C
c.677A>C
Xg.53382283G>ACA413243331SMC1Ac.3386C>T (p.Ser1129Leu)
c.2618C>T (p.Ser873Leu)
c.3320C>T (p.Ser1107Leu)
n.242C>T
c.676C>T
 COSMIC
Xg.53382283G>CCA413243332SMC1Ac.3386C>G (p.Ser1129Ter)
c.2618C>G (p.Ser873Ter)
c.3320C>G (p.Ser1107Ter)
n.242C>G
c.676C>G
Xg.53382283G>TCA413243333SMC1Ac.3386C>A (p.Ser1129Ter)
c.2618C>A (p.Ser873Ter)
c.3320C>A (p.Ser1107Ter)
n.242C>A
c.676C>A
Xg.53382284A>CCA413243334SMC1Ac.3385T>G (p.Ser1129Ala)
c.2617T>G (p.Ser873Ala)
c.3319T>G (p.Ser1107Ala)
n.241T>G
c.675T>G
Xg.53382284A>GCA413243335SMC1Ac.3385T>C (p.Ser1129Pro)
c.2617T>C (p.Ser873Pro)
c.3319T>C (p.Ser1107Pro)
n.241T>C
c.675T>C
Xg.53382284A>TCA413243336SMC1Ac.3385T>A (p.Ser1129Thr)
c.2617T>A (p.Ser873Thr)
c.3319T>A (p.Ser1107Thr)
n.241T>A
c.675T>A
Xg.53382285C>ACA413243337SMC1Ac.3384G>T (p.Leu1128Phe)
c.2616G>T (p.Leu872Phe)
c.3318G>T (p.Leu1106Phe)
n.240G>T
c.674G>T
Xg.53382285C>GCA413243338SMC1Ac.3384G>C (p.Leu1128Phe)
c.2616G>C (p.Leu872Phe)
c.3318G>C (p.Leu1106Phe)
n.240G>C
c.674G>C
Xg.53382285C>TCA516688005SMC1Ac.3384G>A (p.Leu1128=)
c.2616G>A (p.Leu872=)
c.3318G>A (p.Leu1106=)
n.240G>A
c.674G>A
Xg.53382286A>CCA413243342SMC1Ac.3383T>G (p.Leu1128Trp)
c.2615T>G (p.Leu872Trp)
c.3317T>G (p.Leu1106Trp)
n.239T>G
c.673T>G
Xg.53382286A>GCA413243340SMC1Ac.3383T>C (p.Leu1128Ser)
c.2615T>C (p.Leu872Ser)
c.3317T>C (p.Leu1106Ser)
n.239T>C
c.673T>C
Xg.53382286A>TCA413243339SMC1Ac.3383T>A (p.Leu1128Ter)
c.2615T>A (p.Leu872Ter)
c.3317T>A (p.Leu1106Ter)
n.239T>A
c.673T>A
Xg.53382287A>CCA413243344SMC1Ac.3382T>G (p.Leu1128Val)
c.2614T>G (p.Leu872Val)
c.3316T>G (p.Leu1106Val)
n.238T>G
c.672T>G
Xg.53382287A>GCA516688006SMC1Ac.3382T>C (p.Leu1128=)
c.2614T>C (p.Leu872=)
c.3316T>C (p.Leu1106=)
n.238T>C
c.672T>C
Xg.53382287A>TCA413243343SMC1Ac.3382T>A (p.Leu1128Met)
c.2614T>A (p.Leu872Met)
c.3316T>A (p.Leu1106Met)
n.238T>A
c.672T>A
Xg.53382288G>ACA516688007SMC1Ac.3381C>T (p.Asn1127=)
c.2613C>T (p.Asn871=)
c.3315C>T (p.Asn1105=)
n.237C>T
c.671C>T
Xg.53382288G>CCA413243345SMC1Ac.3381C>G (p.Asn1127Lys)
c.2613C>G (p.Asn871Lys)
c.3315C>G (p.Asn1105Lys)
n.237C>G
c.671C>G
Xg.53382288G>TCA413243346SMC1Ac.3381C>A (p.Asn1127Lys)
c.2613C>A (p.Asn871Lys)
c.3315C>A (p.Asn1105Lys)
n.237C>A
c.671C>A
Xg.53382289T>ACA413243347SMC1Ac.3380A>T (p.Asn1127Ile)
c.2612A>T (p.Asn871Ile)
c.3314A>T (p.Asn1105Ile)
n.236A>T
c.670A>T
Xg.53382289T>CCA413243348SMC1Ac.3380A>G (p.Asn1127Ser)
c.2612A>G (p.Asn871Ser)
c.3314A>G (p.Asn1105Ser)
n.236A>G
c.670A>G
Xg.53382289T>GCA413243349SMC1Ac.3380A>C (p.Asn1127Thr)
c.2612A>C (p.Asn871Thr)
c.3314A>C (p.Asn1105Thr)
n.236A>C
c.670A>C
Xg.53382290T>ACA413243352SMC1Ac.3379A>T (p.Asn1127Tyr)
c.2611A>T (p.Asn871Tyr)
c.3313A>T (p.Asn1105Tyr)
n.235A>T
c.669A>T
Xg.53382290T>CCA413243350SMC1Ac.3379A>G (p.Asn1127Asp)
c.2611A>G (p.Asn871Asp)
c.3313A>G (p.Asn1105Asp)
n.235A>G
c.669A>G
Xg.53382290T>GCA413243351SMC1Ac.3379A>C (p.Asn1127His)
c.2611A>C (p.Asn871His)
c.3313A>C (p.Asn1105His)
n.235A>C
c.669A>C
Xg.53382291G>ACA516688008SMC1Ac.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
Xg.53382291G>CCA413243353SMC1Ac.3378C>G (p.Asp1126Glu)
c.2610C>G (p.Asp870Glu)
c.3312C>G (p.Asp1104Glu)
n.234C>G
c.668C>G
Xg.53382291G=CA2429817409SMC1Ac.3378C= (p.Asp1126=)
c.2610C= (p.Asp870=)
c.3312C= (p.Asp1104=)
n.234C=
c.668C=
Xg.53382291G>TCA413243354SMC1Ac.3378C>A (p.Asp1126Glu)
c.2610C>A (p.Asp870Glu)
c.3312C>A (p.Asp1104Glu)
n.234C>A
c.668C>A
Xg.53382292T>ACA413243356SMC1Ac.3377A>T (p.Asp1126Val)
c.2609A>T (p.Asp870Val)
c.3311A>T (p.Asp1104Val)
n.233A>T
c.667A>T
Xg.53382292T>CCA413243357SMC1Ac.3377A>G (p.Asp1126Gly)
c.2609A>G (p.Asp870Gly)
c.3311A>G (p.Asp1104Gly)
n.233A>G
c.667A>G
Xg.53382292T>GCA413243358SMC1Ac.3377A>C (p.Asp1126Ala)
c.2609A>C (p.Asp870Ala)
c.3311A>C (p.Asp1104Ala)
n.233A>C
c.667A>C
Xg.53382293C>ACA413243359SMC1Ac.3376G>T (p.Asp1126Tyr)
c.2608G>T (p.Asp870Tyr)
c.3310G>T (p.Asp1104Tyr)
n.232G>T
c.666G>T
Xg.53382293C>GCA413243361SMC1Ac.3376G>C (p.Asp1126His)
c.2608G>C (p.Asp870His)
c.3310G>C (p.Asp1104His)
n.232G>C
c.666G>C
Xg.53382293C>TCA413243360SMC1Ac.3376G>A (p.Asp1126Asn)
c.2608G>A (p.Asp870Asn)
c.3310G>A (p.Asp1104Asn)
n.232G>A
c.666G>A
Xg.53382294C>ACA413243362SMC1Ac.3375G>T (p.Met1125Ile)
c.2607G>T (p.Met869Ile)
c.3309G>T (p.Met1103Ile)
n.231G>T
c.665G>T
Xg.53382294C>GCA413243363SMC1Ac.3375G>C (p.Met1125Ile)
c.2607G>C (p.Met869Ile)
c.3309G>C (p.Met1103Ile)
n.231G>C
c.665G>C
Xg.53382294C>TCA413243364SMC1Ac.3375G>A (p.Met1125Ile)
c.2607G>A (p.Met869Ile)
c.3309G>A (p.Met1103Ile)
n.231G>A
c.665G>A
Xg.53382295A>CCA413243365SMC1Ac.3374T>G (p.Met1125Arg)
c.2606T>G (p.Met869Arg)
c.3308T>G (p.Met1103Arg)
n.230T>G
c.664T>G
Xg.53382295A>GCA413243366SMC1Ac.3374T>C (p.Met1125Thr)
c.2606T>C (p.Met869Thr)
c.3308T>C (p.Met1103Thr)
n.230T>C
c.664T>C
 ClinVar dbSNP
Xg.53382295A>TCA413243367SMC1Ac.3374T>A (p.Met1125Lys)
c.2606T>A (p.Met869Lys)
c.3308T>A (p.Met1103Lys)
n.230T>A
c.664T>A
Xg.53382296T>ACA413243368SMC1Ac.3373A>T (p.Met1125Leu)
c.2605A>T (p.Met869Leu)
c.3307A>T (p.Met1103Leu)
n.229A>T
c.663A>T
Xg.53382296T>CCA16044282SMC1Ac.3373A>G (p.Met1125Val)
c.2605A>G (p.Met869Val)
c.3307A>G (p.Met1103Val)
n.229A>G
c.663A>G
 ClinVar dbSNP
Xg.53382296T>GCA413243369SMC1Ac.3373A>C (p.Met1125Leu)
c.2605A>C (p.Met869Leu)
c.3307A>C (p.Met1103Leu)
n.229A>C
c.663A>C
Xg.53382296T=CA2429817410SMC1Ac.3373A= (p.Met1125=)
c.2605A= (p.Met869=)
c.3307A= (p.Met1103=)
n.229A=
c.663A=

Number of alleles fetched