Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53382169C>ACA2693803800SMC1Ac.3437+63G>T (n.3437+63G>T)
c.2669+63G>T (n.2669+63G>T)
c.3371+63G>T (n.3371+63G>T)
n.356G>T
c.727+63G>T
 gnomAD v4
Xg.53382169_53382170insACA2579615569SMC1Ac.3437+62_3437+63insT (n.3437+62_3437+63insT)
c.2669+62_2669+63insT (n.2669+62_2669+63insT)
c.3371+62_3371+63insT (n.3371+62_3371+63insT)
n.355_356insT
c.727+62_727+63insT
 gnomAD v4
Xg.53382174_53382188delCA2693803801SMC1Ac.3437+44_3437+58del (n.3437+44_3437+58del)
c.2669+44_2669+58del (n.2669+44_2669+58del)
c.3371+44_3371+58del (n.3371+44_3371+58del)
n.337_351del
c.727+44_727+58del
 gnomAD v4
Xg.53382176C>ACA2552801614SMC1Ac.3437+56G>T (n.3437+56G>T)
c.2669+56G>T (n.2669+56G>T)
c.3371+56G>T (n.3371+56G>T)
n.349G>T
c.727+56G>T
Xg.53382176C>GCA2579615570SMC1Ac.3437+56G>C (n.3437+56G>C)
c.2669+56G>C (n.2669+56G>C)
c.3371+56G>C (n.3371+56G>C)
n.349G>C
c.727+56G>C
Xg.53382177C=CA2429817384SMC1Ac.3437+55G= (n.3437+55G=)
c.2669+55G= (n.2669+55G=)
c.3371+55G= (n.3371+55G=)
n.348G=
c.727+55G=
Xg.53382177C>TCA1133167737SMC1Ac.3437+55G>A (n.3437+55G>A)
c.2669+55G>A (n.2669+55G>A)
c.3371+55G>A (n.3371+55G>A)
n.348G>A
c.727+55G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53382178T>CCA876270565SMC1Ac.3437+54A>G (n.3437+54A>G)
c.2669+54A>G (n.2669+54A>G)
c.3371+54A>G (n.3371+54A>G)
n.347A>G
c.727+54A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53382178T=CA2429817385SMC1Ac.3437+54A= (n.3437+54A=)
c.2669+54A= (n.2669+54A=)
c.3371+54A= (n.3371+54A=)
n.347A=
c.727+54A=
Xg.53382181G>TCA2693803802SMC1Ac.3437+51C>A (n.3437+51C>A)
c.2669+51C>A (n.2669+51C>A)
c.3371+51C>A (n.3371+51C>A)
n.344C>A
c.727+51C>A
 gnomAD v4
Xg.53382182G>ACA2429817386SMC1Ac.3437+50C>T (n.3437+50C>T)
c.2669+50C>T (n.2669+50C>T)
c.3371+50C>T (n.3371+50C>T)
n.343C>T
c.727+50C>T
 dbSNP gnomAD v4
Xg.53382182G=CA2429817387SMC1Ac.3437+50C= (n.3437+50C=)
c.2669+50C= (n.2669+50C=)
c.3371+50C= (n.3371+50C=)
n.343C=
c.727+50C=
Xg.53382183delCA2579615571SMC1Ac.3437+49del (n.3437+49del)
c.2669+49del (n.2669+49del)
c.3371+49del (n.3371+49del)
n.342del
c.727+49del
Xg.53382184G>ACA2429817389SMC1Ac.3437+48C>T (n.3437+48C>T)
c.2669+48C>T (n.2669+48C>T)
c.3371+48C>T (n.3371+48C>T)
n.341C>T
c.727+48C>T
 dbSNP
Xg.53382184G=CA2429817388SMC1Ac.3437+48C= (n.3437+48C=)
c.2669+48C= (n.2669+48C=)
c.3371+48C= (n.3371+48C=)
n.341C=
c.727+48C=
Xg.53382185G>TCA2693803803SMC1Ac.3437+47C>A (n.3437+47C>A)
c.2669+47C>A (n.2669+47C>A)
c.3371+47C>A (n.3371+47C>A)
n.340C>A
c.727+47C>A
 gnomAD v4
Xg.53382186C>GCA2693803804SMC1Ac.3437+46G>C (n.3437+46G>C)
c.2669+46G>C (n.2669+46G>C)
c.3371+46G>C (n.3371+46G>C)
n.339G>C
c.727+46G>C
 gnomAD v4
Xg.53382187C=CA2429817390SMC1Ac.3437+45G= (n.3437+45G=)
c.2669+45G= (n.2669+45G=)
c.3371+45G= (n.3371+45G=)
n.338G=
c.727+45G=
Xg.53382187C>TCA329906120SMC1Ac.3437+45G>A (n.3437+45G>A)
c.2669+45G>A (n.2669+45G>A)
c.3371+45G>A (n.3371+45G>A)
n.338G>A
c.727+45G>A
 dbSNP gnomAD v2
Xg.53382189C>TCA2579615572SMC1Ac.3437+43G>A (n.3437+43G>A)
c.2669+43G>A (n.2669+43G>A)
c.3371+43G>A (n.3371+43G>A)
n.336G>A
c.727+43G>A
Xg.53382191G>ACA2429817392SMC1Ac.3437+41C>T (n.3437+41C>T)
c.2669+41C>T (n.2669+41C>T)
c.3371+41C>T (n.3371+41C>T)
n.334C>T
c.727+41C>T
 dbSNP gnomAD v4
Xg.53382191G=CA2429817391SMC1Ac.3437+41C= (n.3437+41C=)
c.2669+41C= (n.2669+41C=)
c.3371+41C= (n.3371+41C=)
n.334C=
c.727+41C=
Xg.53382191G>TCA2693803805SMC1Ac.3437+41C>A (n.3437+41C>A)
c.2669+41C>A (n.2669+41C>A)
c.3371+41C>A (n.3371+41C>A)
n.334C>A
c.727+41C>A
 gnomAD v4
Xg.53382194C=CA2429817393SMC1Ac.3437+38G= (n.3437+38G=)
c.2669+38G= (n.2669+38G=)
c.3371+38G= (n.3371+38G=)
n.331G=
c.727+38G=
Xg.53382194C>TCA10420295SMC1Ac.3437+38G>A (n.3437+38G>A)
c.2669+38G>A (n.2669+38G>A)
c.3371+38G>A (n.3371+38G>A)
n.331G>A
c.727+38G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382195A=CA2429817394SMC1Ac.3437+37T= (n.3437+37T=)
c.2669+37T= (n.2669+37T=)
c.3371+37T= (n.3371+37T=)
n.330T=
c.727+37T=
Xg.53382195A>GCA2429817395SMC1Ac.3437+37T>C (n.3437+37T>C)
c.2669+37T>C (n.2669+37T>C)
c.3371+37T>C (n.3371+37T>C)
n.330T>C
c.727+37T>C
 dbSNP
Xg.53382195A>TCA2579615573SMC1Ac.3437+37T>A (n.3437+37T>A)
c.2669+37T>A (n.2669+37T>A)
c.3371+37T>A (n.3371+37T>A)
n.330T>A
c.727+37T>A
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

Number of alleles fetched