Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53380670T>ACA413242102SMC1Ac.3568A>T (p.Lys1190Ter)
c.2800A>T (p.Lys934Ter)
c.3502A>T (p.Lys1168Ter)
c.788A>T
Xg.53380670T>CCA16608948SMC1Ac.3568A>G (p.Lys1190Glu)
c.2800A>G (p.Lys934Glu)
c.3502A>G (p.Lys1168Glu)
c.788A>G
 ClinVar dbSNP
Xg.53380670T>GCA413242104SMC1Ac.3568A>C (p.Lys1190Gln)
c.2800A>C (p.Lys934Gln)
c.3502A>C (p.Lys1168Gln)
c.788A>C
 ClinVar dbSNP gnomAD v4
Xg.53380670T=CA2429816953SMC1Ac.3568A= (p.Lys1190=)
c.2800A= (p.Lys934=)
c.3502A= (p.Lys1168=)
c.788A=
Xg.53380671G>ACA10420262SMC1Ac.3567C>T (p.Leu1189=)
c.2799C>T (p.Leu933=)
c.3501C>T (p.Leu1167=)
c.787C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380671G>CCA516553515SMC1Ac.3567C>G (p.Leu1189=)
c.2799C>G (p.Leu933=)
c.3501C>G (p.Leu1167=)
c.787C>G
Xg.53380671G=CA2429816954SMC1Ac.3567C= (p.Leu1189=)
c.2799C= (p.Leu933=)
c.3501C= (p.Leu1167=)
c.787C=
Xg.53380671G>TCA516553513SMC1Ac.3567C>A (p.Leu1189=)
c.2799C>A (p.Leu933=)
c.3501C>A (p.Leu1167=)
c.787C>A
Xg.53380677_53380678delCA2579615486SMC1Ac.3566_3567del (p.Leu1189GlnfsTer17)
c.2798_2799del (p.Leu933GlnfsTer17)
c.3500_3501del (p.Leu1167GlnfsTer17)
c.786_787del
Xg.53380672A>CCA413242118SMC1Ac.3566T>G (p.Leu1189Arg)
c.2798T>G (p.Leu933Arg)
c.3500T>G (p.Leu1167Arg)
c.786T>G
Xg.53380672A>GCA413242120SMC1Ac.3566T>C (p.Leu1189Pro)
c.2798T>C (p.Leu933Pro)
c.3500T>C (p.Leu1167Pro)
c.786T>C
Xg.53380672A>TCA413242123SMC1Ac.3566T>A (p.Leu1189His)
c.2798T>A (p.Leu933His)
c.3500T>A (p.Leu1167His)
c.786T>A
Xg.53380673G>ACA413242124SMC1Ac.3565C>T (p.Leu1189Phe)
c.2797C>T (p.Leu933Phe)
c.3499C>T (p.Leu1167Phe)
c.785C>T
Xg.53380673G>CCA413242126SMC1Ac.3565C>G (p.Leu1189Val)
c.2797C>G (p.Leu933Val)
c.3499C>G (p.Leu1167Val)
c.785C>G
Xg.53380673G>TCA413242127SMC1Ac.3565C>A (p.Leu1189Ile)
c.2797C>A (p.Leu933Ile)
c.3499C>A (p.Leu1167Ile)
c.785C>A
Xg.53380674A>CCA516553527SMC1Ac.3564T>G (p.Ser1188=)
c.2796T>G (p.Ser932=)
c.3498T>G (p.Ser1166=)
c.784T>G
Xg.53380674A>GCA516553526SMC1Ac.3564T>C (p.Ser1188=)
c.2796T>C (p.Ser932=)
c.3498T>C (p.Ser1166=)
c.784T>C
 gnomAD v3 gnomAD v4
Xg.53380674A>TCA516553524SMC1Ac.3564T>A (p.Ser1188=)
c.2796T>A (p.Ser932=)
c.3498T>A (p.Ser1166=)
c.784T>A
Xg.53380675G>ACA413242129SMC1Ac.3563C>T (p.Ser1188Phe)
c.2795C>T (p.Ser932Phe)
c.3497C>T (p.Ser1166Phe)
c.783C>T
Xg.53380675G>CCA413242132SMC1Ac.3563C>G (p.Ser1188Cys)
c.2795C>G (p.Ser932Cys)
c.3497C>G (p.Ser1166Cys)
c.783C>G
Xg.53380675G>TCA413242144SMC1Ac.3563C>A (p.Ser1188Tyr)
c.2795C>A (p.Ser932Tyr)
c.3497C>A (p.Ser1166Tyr)
c.783C>A
Xg.53380676A>CCA413242150SMC1Ac.3562T>G (p.Ser1188Ala)
c.2794T>G (p.Ser932Ala)
c.3496T>G (p.Ser1166Ala)
c.782T>G
Xg.53380676A>GCA413242151SMC1Ac.3562T>C (p.Ser1188Pro)
c.2794T>C (p.Ser932Pro)
c.3496T>C (p.Ser1166Pro)
c.782T>C
Xg.53380676A>TCA413242149SMC1Ac.3562T>A (p.Ser1188Thr)
c.2794T>A (p.Ser932Thr)
c.3496T>A (p.Ser1166Thr)
c.782T>A
Xg.53380677G>ACA516553537SMC1Ac.3561C>T (p.Ile1187=)
c.2793C>T (p.Ile931=)
c.3495C>T (p.Ile1165=)
c.781C>T
Xg.53380677G>CCA413242152SMC1Ac.3561C>G (p.Ile1187Met)
c.2793C>G (p.Ile931Met)
c.3495C>G (p.Ile1165Met)
c.781C>G
Xg.53380677G>TCA516553538SMC1Ac.3561C>A (p.Ile1187=)
c.2793C>A (p.Ile931=)
c.3495C>A (p.Ile1165=)
c.781C>A
Xg.53380677_53380688delCA2555886609SMC1Ac.3550_3561del (p.Ala1184_Ile1187del)
c.2782_2793del (p.Ala928_Ile931del)
c.3484_3495del (p.Ala1162_Ile1165del)
c.770_781del
Xg.53380678A>CCA413242153SMC1Ac.3560T>G (p.Ile1187Ser)
c.2792T>G (p.Ile931Ser)
c.3494T>G (p.Ile1165Ser)
c.780T>G
Xg.53380678A>GCA413242154SMC1Ac.3560T>C (p.Ile1187Thr)
c.2792T>C (p.Ile931Thr)
c.3494T>C (p.Ile1165Thr)
c.780T>C
Xg.53380678A>TCA413242155SMC1Ac.3560T>A (p.Ile1187Asn)
c.2792T>A (p.Ile931Asn)
c.3494T>A (p.Ile1165Asn)
c.780T>A
Xg.53380679T>ACA413242156SMC1Ac.3559A>T (p.Ile1187Phe)
c.2791A>T (p.Ile931Phe)
c.3493A>T (p.Ile1165Phe)
c.779A>T
Xg.53380679T>CCA413242157SMC1Ac.3559A>G (p.Ile1187Val)
c.2791A>G (p.Ile931Val)
c.3493A>G (p.Ile1165Val)
c.779A>G
 ClinVar dbSNP
Xg.53380679T>GCA413242159SMC1Ac.3559A>C (p.Ile1187Leu)
c.2791A>C (p.Ile931Leu)
c.3493A>C (p.Ile1165Leu)
c.779A>C
Xg.53380679_53380680delCA2579615487SMC1Ac.3558_3559del (p.Ile1187LeufsTer19)
c.2790_2791del (p.Ile931LeufsTer19)
c.3492_3493del (p.Ile1165LeufsTer19)
c.778_779del
Xg.53380680delCA2579615488SMC1Ac.3558del (p.Ile1187SerfsTer25)
c.2790del (p.Ile931SerfsTer25)
c.3492del (p.Ile1165SerfsTer25)
c.778del
Xg.53380680G>ACA10420263SMC1Ac.3558C>T (p.Val1186=)
c.2790C>T (p.Val930=)
c.3492C>T (p.Val1164=)
c.778C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380680G>CCA516553548SMC1Ac.3558C>G (p.Val1186=)
c.2790C>G (p.Val930=)
c.3492C>G (p.Val1164=)
c.778C>G
Xg.53380680G=CA2429816955SMC1Ac.3558C= (p.Val1186=)
c.2790C= (p.Val930=)
c.3492C= (p.Val1164=)
c.778C=
Xg.53380680G>TCA516553550SMC1Ac.3558C>A (p.Val1186=)
c.2790C>A (p.Val930=)
c.3492C>A (p.Val1164=)
c.778C>A
Xg.53380681A=CA2429816956SMC1Ac.3557T= (p.Val1186=)
c.2789T= (p.Val930=)
c.3491T= (p.Val1164=)
c.777T=
Xg.53380681A>CCA413242162SMC1Ac.3557T>G (p.Val1186Gly)
c.2789T>G (p.Val930Gly)
c.3491T>G (p.Val1164Gly)
c.777T>G
Xg.53380681A>GCA272578SMC1Ac.3557T>C (p.Val1186Ala)
c.2789T>C (p.Val930Ala)
c.3491T>C (p.Val1164Ala)
c.777T>C
 ClinVar dbSNP
Xg.53380681A>TCA413242163SMC1Ac.3557T>A (p.Val1186Asp)
c.2789T>A (p.Val930Asp)
c.3491T>A (p.Val1164Asp)
c.777T>A
Xg.53380682C>ACA413242166SMC1Ac.3556G>T (p.Val1186Phe)
c.2788G>T (p.Val930Phe)
c.3490G>T (p.Val1164Phe)
c.776G>T
Xg.53380682C>GCA413242172SMC1Ac.3556G>C (p.Val1186Leu)
c.2788G>C (p.Val930Leu)
c.3490G>C (p.Val1164Leu)
c.776G>C
 COSMIC
Xg.53380682C>TCA413242175SMC1Ac.3556G>A (p.Val1186Ile)
c.2788G>A (p.Val930Ile)
c.3490G>A (p.Val1164Ile)
c.776G>A
 COSMIC
Xg.53380683G>ACA516553559SMC1Ac.3555C>T (p.Ile1185=)
c.2787C>T (p.Ile929=)
c.3489C>T (p.Ile1163=)
c.775C>T
 ClinVar dbSNP
Xg.53380683G>CCA413242184SMC1Ac.3555C>G (p.Ile1185Met)
c.2787C>G (p.Ile929Met)
c.3489C>G (p.Ile1163Met)
c.775C>G
Xg.53380683G>TCA516553561SMC1Ac.3555C>A (p.Ile1185=)
c.2787C>A (p.Ile929=)
c.3489C>A (p.Ile1163=)
c.775C>A

Number of alleles fetched