Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53380619C>ACA413241738SMC1Ac.3618+1G>T (n.3618+1G>T)
c.2850+1G>T (n.2850+1G>T)
c.3552+1G>T (n.3552+1G>T)
Xg.53380619C>GCA413241740SMC1Ac.3618+1G>C (n.3618+1G>C)
c.2850+1G>C (n.2850+1G>C)
c.3552+1G>C (n.3552+1G>C)
Xg.53380619C>TCA413241742SMC1Ac.3618+1G>A (n.3618+1G>A)
c.2850+1G>A (n.2850+1G>A)
c.3552+1G>A (n.3552+1G>A)
Xg.53380620C>ACA413241744SMC1Ac.3618G>T (p.Glu1206Asp)
c.2850G>T (p.Glu950Asp)
c.3552G>T (p.Glu1184Asp)
c.838G>T
Xg.53380620C>GCA413241746SMC1Ac.3618G>C (p.Glu1206Asp)
c.2850G>C (p.Glu950Asp)
c.3552G>C (p.Glu1184Asp)
c.838G>C
Xg.53380620C>TCA516553324SMC1Ac.3618G>A (p.Glu1206=)
c.2850G>A (p.Glu950=)
c.3552G>A (p.Glu1184=)
c.838G>A
Xg.53380621T>ACA413241748SMC1Ac.3617A>T (p.Glu1206Val)
c.2849A>T (p.Glu950Val)
c.3551A>T (p.Glu1184Val)
c.837A>T
Xg.53380621T>CCA413241749SMC1Ac.3617A>G (p.Glu1206Gly)
c.2849A>G (p.Glu950Gly)
c.3551A>G (p.Glu1184Gly)
c.837A>G
Xg.53380621T>GCA413241750SMC1Ac.3617A>C (p.Glu1206Ala)
c.2849A>C (p.Glu950Ala)
c.3551A>C (p.Glu1184Ala)
c.837A>C
Xg.53380622C>ACA413241752SMC1Ac.3616G>T (p.Glu1206Ter)
c.2848G>T (p.Glu950Ter)
c.3550G>T (p.Glu1184Ter)
c.836G>T
Xg.53380622C>GCA413241753SMC1Ac.3616G>C (p.Glu1206Gln)
c.2848G>C (p.Glu950Gln)
c.3550G>C (p.Glu1184Gln)
c.836G>C
Xg.53380622C>TCA413241755SMC1Ac.3616G>A (p.Glu1206Lys)
c.2848G>A (p.Glu950Lys)
c.3550G>A (p.Glu1184Lys)
c.836G>A
 gnomAD v4
Xg.53380623A=CA2429816942SMC1Ac.3615T= (p.Pro1205=)
c.2847T= (p.Pro949=)
c.3549T= (p.Pro1183=)
c.835T=
Xg.53380623A>CCA516553337SMC1Ac.3615T>G (p.Pro1205=)
c.2847T>G (p.Pro949=)
c.3549T>G (p.Pro1183=)
c.835T>G
Xg.53380623A>GCA516553339SMC1Ac.3615T>C (p.Pro1205=)
c.2847T>C (p.Pro949=)
c.3549T>C (p.Pro1183=)
c.835T>C
 gnomAD v4
Xg.53380623A>TCA516553341SMC1Ac.3615T>A (p.Pro1205=)
c.2847T>A (p.Pro949=)
c.3549T>A (p.Pro1183=)
c.835T>A
 ClinVar dbSNP
Xg.53380624G>ACA413241756SMC1Ac.3614C>T (p.Pro1205Leu)
c.2846C>T (p.Pro949Leu)
c.3548C>T (p.Pro1183Leu)
c.834C>T
Xg.53380624G>CCA413241757SMC1Ac.3614C>G (p.Pro1205Arg)
c.2846C>G (p.Pro949Arg)
c.3548C>G (p.Pro1183Arg)
c.834C>G
Xg.53380624G>TCA413241760SMC1Ac.3614C>A (p.Pro1205His)
c.2846C>A (p.Pro949His)
c.3548C>A (p.Pro1183His)
c.834C>A
 gnomAD v4
Xg.53380625G>ACA413241763SMC1Ac.3613C>T (p.Pro1205Ser)
c.2845C>T (p.Pro949Ser)
c.3547C>T (p.Pro1183Ser)
c.833C>T
Xg.53380625G>CCA413241765SMC1Ac.3613C>G (p.Pro1205Ala)
c.2845C>G (p.Pro949Ala)
c.3547C>G (p.Pro1183Ala)
c.833C>G
Xg.53380625G>TCA413241761SMC1Ac.3613C>A (p.Pro1205Thr)
c.2845C>A (p.Pro949Thr)
c.3547C>A (p.Pro1183Thr)
c.833C>A
Xg.53380626A=CA2429816943SMC1Ac.3612T= (p.Tyr1204=)
c.2844T= (p.Tyr948=)
c.3546T= (p.Tyr1182=)
c.832T=
Xg.53380626A>CCA413241767SMC1Ac.3612T>G (p.Tyr1204Ter)
c.2844T>G (p.Tyr948Ter)
c.3546T>G (p.Tyr1182Ter)
c.832T>G
Xg.53380626A>GCA516553350SMC1Ac.3612T>C (p.Tyr1204=)
c.2844T>C (p.Tyr948=)
c.3546T>C (p.Tyr1182=)
c.832T>C
 dbSNP gnomAD v4
Xg.53380626A>TCA413241769SMC1Ac.3612T>A (p.Tyr1204Ter)
c.2844T>A (p.Tyr948Ter)
c.3546T>A (p.Tyr1182Ter)
c.832T>A
Xg.53380627T>ACA10420257SMC1Ac.3611A>T (p.Tyr1204Phe)
c.2843A>T (p.Tyr948Phe)
c.3545A>T (p.Tyr1182Phe)
c.831A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380627T>CCA413241773SMC1Ac.3611A>G (p.Tyr1204Cys)
c.2843A>G (p.Tyr948Cys)
c.3545A>G (p.Tyr1182Cys)
c.831A>G
Xg.53380627T>GCA413241784SMC1Ac.3611A>C (p.Tyr1204Ser)
c.2843A>C (p.Tyr948Ser)
c.3545A>C (p.Tyr1182Ser)
c.831A>C
Xg.53380627T=CA2429816944SMC1Ac.3611A= (p.Tyr1204=)
c.2843A= (p.Tyr948=)
c.3545A= (p.Tyr1182=)
c.831A=
Xg.53380628A>CCA413241797SMC1Ac.3610T>G (p.Tyr1204Asp)
c.2842T>G (p.Tyr948Asp)
c.3544T>G (p.Tyr1182Asp)
c.830T>G
Xg.53380628A>GCA413241793SMC1Ac.3610T>C (p.Tyr1204His)
c.2842T>C (p.Tyr948His)
c.3544T>C (p.Tyr1182His)
c.830T>C
Xg.53380628A>TCA413241791SMC1Ac.3610T>A (p.Tyr1204Asn)
c.2842T>A (p.Tyr948Asn)
c.3544T>A (p.Tyr1182Asn)
c.830T>A
Xg.53380629G>ACA516553356SMC1Ac.3609C>T (p.Val1203=)
c.2841C>T (p.Val947=)
c.3543C>T (p.Val1181=)
c.829C>T
Xg.53380629G>CCA516553357SMC1Ac.3609C>G (p.Val1203=)
c.2841C>G (p.Val947=)
c.3543C>G (p.Val1181=)
c.829C>G
 COSMIC
Xg.53380629G>TCA516553358SMC1Ac.3609C>A (p.Val1203=)
c.2841C>A (p.Val947=)
c.3543C>A (p.Val1181=)
c.829C>A
 gnomAD v4
Xg.53380630A>CCA413241799SMC1Ac.3608T>G (p.Val1203Gly)
c.2840T>G (p.Val947Gly)
c.3542T>G (p.Val1181Gly)
c.828T>G
Xg.53380630A>GCA413241800SMC1Ac.3608T>C (p.Val1203Ala)
c.2840T>C (p.Val947Ala)
c.3542T>C (p.Val1181Ala)
c.828T>C
Xg.53380630A>TCA413241801SMC1Ac.3608T>A (p.Val1203Asp)
c.2840T>A (p.Val947Asp)
c.3542T>A (p.Val1181Asp)
c.828T>A
 gnomAD v4
Xg.53380631C>ACA413241803SMC1Ac.3607G>T (p.Val1203Phe)
c.2839G>T (p.Val947Phe)
c.3541G>T (p.Val1181Phe)
c.827G>T
Xg.53380631C>GCA413241805SMC1Ac.3607G>C (p.Val1203Leu)
c.2839G>C (p.Val947Leu)
c.3541G>C (p.Val1181Leu)
c.827G>C
Xg.53380631C>TCA413241808SMC1Ac.3607G>A (p.Val1203Ile)
c.2839G>A (p.Val947Ile)
c.3541G>A (p.Val1181Ile)
c.827G>A
 dbSNP
Xg.53380632T>ACA516553369SMC1Ac.3606A>T (p.Gly1202=)
c.2838A>T (p.Gly946=)
c.3540A>T (p.Gly1180=)
c.826A>T
Xg.53380632T>CCA516553371SMC1Ac.3606A>G (p.Gly1202=)
c.2838A>G (p.Gly946=)
c.3540A>G (p.Gly1180=)
c.826A>G
Xg.53380632T>GCA516553373SMC1Ac.3606A>C (p.Gly1202=)
c.2838A>C (p.Gly946=)
c.3540A>C (p.Gly1180=)
c.826A>C
Xg.53380633C>ACA413241811SMC1Ac.3605G>T (p.Gly1202Val)
c.2837G>T (p.Gly946Val)
c.3539G>T (p.Gly1180Val)
c.825G>T
Xg.53380633C>GCA413241819SMC1Ac.3605G>C (p.Gly1202Ala)
c.2837G>C (p.Gly946Ala)
c.3539G>C (p.Gly1180Ala)
c.825G>C
Xg.53380633C>TCA413241816SMC1Ac.3605G>A (p.Gly1202Glu)
c.2837G>A (p.Gly946Glu)
c.3539G>A (p.Gly1180Glu)
c.825G>A
Xg.53380634C>ACA413241820SMC1Ac.3604G>T (p.Gly1202Ter)
c.2836G>T (p.Gly946Ter)
c.3538G>T (p.Gly1180Ter)
c.824G>T
Xg.53380634C>GCA413241821SMC1Ac.3604G>C (p.Gly1202Arg)
c.2836G>C (p.Gly946Arg)
c.3538G>C (p.Gly1180Arg)
c.824G>C
Xg.53380634C>TCA413241824SMC1Ac.3604G>A (p.Gly1202Arg)
c.2836G>A (p.Gly946Arg)
c.3538G>A (p.Gly1180Arg)
c.824G>A
Xg.53380635A>CCA413241825SMC1Ac.3603T>G (p.Ile1201Met)
c.2835T>G (p.Ile945Met)
c.3537T>G (p.Ile1179Met)
c.823T>G
Xg.53380635A>GCA516553383SMC1Ac.3603T>C (p.Ile1201=)
c.2835T>C (p.Ile945=)
c.3537T>C (p.Ile1179=)
c.823T>C
 gnomAD v4
Xg.53380635A>TCA516553385SMC1Ac.3603T>A (p.Ile1201=)
c.2835T>A (p.Ile945=)
c.3537T>A (p.Ile1179=)
c.823T>A
Xg.53380636A>CCA413241829SMC1Ac.3602T>G (p.Ile1201Ser)
c.2834T>G (p.Ile945Ser)
c.3536T>G (p.Ile1179Ser)
c.822T>G
Xg.53380636A>GCA413241833SMC1Ac.3602T>C (p.Ile1201Thr)
c.2834T>C (p.Ile945Thr)
c.3536T>C (p.Ile1179Thr)
c.822T>C
 gnomAD v4
Xg.53380636A>TCA413241835SMC1Ac.3602T>A (p.Ile1201Asn)
c.2834T>A (p.Ile945Asn)
c.3536T>A (p.Ile1179Asn)
c.822T>A
Xg.53380637T>ACA413241837SMC1Ac.3601A>T (p.Ile1201Phe)
c.2833A>T (p.Ile945Phe)
c.3535A>T (p.Ile1179Phe)
c.821A>T
Xg.53380637T>CCA413241840SMC1Ac.3601A>G (p.Ile1201Val)
c.2833A>G (p.Ile945Val)
c.3535A>G (p.Ile1179Val)
c.821A>G
 gnomAD v4
Xg.53380637T>GCA413241843SMC1Ac.3601A>C (p.Ile1201Leu)
c.2833A>C (p.Ile945Leu)
c.3535A>C (p.Ile1179Leu)
c.821A>C
 gnomAD v4
Xg.53380638G>ACA516553394SMC1Ac.3600C>T (p.Leu1200=)
c.2832C>T (p.Leu944=)
c.3534C>T (p.Leu1178=)
c.820C>T
 gnomAD v4
Xg.53380638G>CCA516553396SMC1Ac.3600C>G (p.Leu1200=)
c.2832C>G (p.Leu944=)
c.3534C>G (p.Leu1178=)
c.820C>G
Xg.53380638G>TCA516553393SMC1Ac.3600C>A (p.Leu1200=)
c.2832C>A (p.Leu944=)
c.3534C>A (p.Leu1178=)
c.820C>A
 gnomAD v4
Xg.53380639_53380640delCA2579615464SMC1Ac.3599_3600del (p.Leu1200HisfsTer6)
c.2831_2832del (p.Leu944HisfsTer6)
c.3533_3534del (p.Leu1178HisfsTer6)
c.819_820del
Xg.53380639A>CCA413241844SMC1Ac.3599T>G (p.Leu1200Arg)
c.2831T>G (p.Leu944Arg)
c.3533T>G (p.Leu1178Arg)
c.819T>G
Xg.53380639A>GCA413241848SMC1Ac.3599T>C (p.Leu1200Pro)
c.2831T>C (p.Leu944Pro)
c.3533T>C (p.Leu1178Pro)
c.819T>C
 gnomAD v4
Xg.53380639A>TCA413241846SMC1Ac.3599T>A (p.Leu1200His)
c.2831T>A (p.Leu944His)
c.3533T>A (p.Leu1178His)
c.819T>A
Xg.53380640G>ACA413241850SMC1Ac.3598C>T (p.Leu1200Phe)
c.2830C>T (p.Leu944Phe)
c.3532C>T (p.Leu1178Phe)
c.818C>T
Xg.53380640G>CCA413241855SMC1Ac.3598C>G (p.Leu1200Val)
c.2830C>G (p.Leu944Val)
c.3532C>G (p.Leu1178Val)
c.818C>G
Xg.53380640G>TCA413241853SMC1Ac.3598C>A (p.Leu1200Ile)
c.2830C>A (p.Leu944Ile)
c.3532C>A (p.Leu1178Ile)
c.818C>A
 gnomAD v4 COSMIC
Xg.53380641G>ACA516553406SMC1Ac.3597C>T (p.Ser1199=)
c.2829C>T (p.Ser943=)
c.3531C>T (p.Ser1177=)
c.817C>T
 dbSNP
Xg.53380641G>CCA413241857SMC1Ac.3597C>G (p.Ser1199Arg)
c.2829C>G (p.Ser943Arg)
c.3531C>G (p.Ser1177Arg)
c.817C>G
Xg.53380641G=CA2429816945SMC1Ac.3597C= (p.Ser1199=)
c.2829C= (p.Ser943=)
c.3531C= (p.Ser1177=)
c.817C=
Xg.53380641G>TCA413241858SMC1Ac.3597C>A (p.Ser1199Arg)
c.2829C>A (p.Ser943Arg)
c.3531C>A (p.Ser1177Arg)
c.817C>A
 gnomAD v4
Xg.53380642C>ACA413241863SMC1Ac.3596G>T (p.Ser1199Ile)
c.2828G>T (p.Ser943Ile)
c.3530G>T (p.Ser1177Ile)
c.816G>T
Xg.53380642C>GCA413241865SMC1Ac.3596G>C (p.Ser1199Thr)
c.2828G>C (p.Ser943Thr)
c.3530G>C (p.Ser1177Thr)
c.816G>C
Xg.53380642C>TCA413241866SMC1Ac.3596G>A (p.Ser1199Asn)
c.2828G>A (p.Ser943Asn)
c.3530G>A (p.Ser1177Asn)
c.816G>A
Xg.53380643T>ACA413241867SMC1Ac.3595A>T (p.Ser1199Cys)
c.2827A>T (p.Ser943Cys)
c.3529A>T (p.Ser1177Cys)
c.815A>T
Xg.53380643T>CCA413241868SMC1Ac.3595A>G (p.Ser1199Gly)
c.2827A>G (p.Ser943Gly)
c.3529A>G (p.Ser1177Gly)
c.815A>G
Xg.53380643T>GCA413241869SMC1Ac.3595A>C (p.Ser1199Arg)
c.2827A>C (p.Ser943Arg)
c.3529A>C (p.Ser1177Arg)
c.815A>C
Xg.53380644C>ACA413241871SMC1Ac.3594G>T (p.Glu1198Asp)
c.2826G>T (p.Glu942Asp)
c.3528G>T (p.Glu1176Asp)
c.814G>T
Xg.53380644C>GCA413241872SMC1Ac.3594G>C (p.Glu1198Asp)
c.2826G>C (p.Glu942Asp)
c.3528G>C (p.Glu1176Asp)
c.814G>C
Xg.53380644C>TCA516553413SMC1Ac.3594G>A (p.Glu1198=)
c.2826G>A (p.Glu942=)
c.3528G>A (p.Glu1176=)
c.814G>A
 gnomAD v4
Xg.53380645T>ACA413241880SMC1Ac.3593A>T (p.Glu1198Val)
c.2825A>T (p.Glu942Val)
c.3527A>T (p.Glu1176Val)
c.813A>T
Xg.53380645T>CCA413241882SMC1Ac.3593A>G (p.Glu1198Gly)
c.2825A>G (p.Glu942Gly)
c.3527A>G (p.Glu1176Gly)
c.813A>G
 gnomAD v4
Xg.53380645T>GCA413241891SMC1Ac.3593A>C (p.Glu1198Ala)
c.2825A>C (p.Glu942Ala)
c.3527A>C (p.Glu1176Ala)
c.813A>C
Xg.53380646C>ACA413241894SMC1Ac.3592G>T (p.Glu1198Ter)
c.2824G>T (p.Glu942Ter)
c.3526G>T (p.Glu1176Ter)
c.812G>T
Xg.53380646C=CA2429816946SMC1Ac.3592G= (p.Glu1198=)
c.2824G= (p.Glu942=)
c.3526G= (p.Glu1176=)
c.812G=
Xg.53380646C>GCA413241898SMC1Ac.3592G>C (p.Glu1198Gln)
c.2824G>C (p.Glu942Gln)
c.3526G>C (p.Glu1176Gln)
c.812G>C
 ClinVar dbSNP
Xg.53380646C>TCA10420258SMC1Ac.3592G>A (p.Glu1198Lys)
c.2824G>A (p.Glu942Lys)
c.3526G>A (p.Glu1176Lys)
c.812G>A
 ClinVar dbSNP ExAC gnomAD v4 COSMIC
Xg.53380647G>ACA148481SMC1Ac.3591C>T (p.Ala1197=)
c.2823C>T (p.Ala941=)
c.3525C>T (p.Ala1175=)
c.811C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380647G>CCA516553423SMC1Ac.3591C>G (p.Ala1197=)
c.2823C>G (p.Ala941=)
c.3525C>G (p.Ala1175=)
c.811C>G
 ClinVar dbSNP gnomAD v4
Xg.53380647G=CA2429816947SMC1Ac.3591C= (p.Ala1197=)
c.2823C= (p.Ala941=)
c.3525C= (p.Ala1175=)
c.811C=
Xg.53380647G>TCA516553428SMC1Ac.3591C>A (p.Ala1197=)
c.2823C>A (p.Ala941=)
c.3525C>A (p.Ala1175=)
c.811C>A
Xg.53380648G>ACA413241910SMC1Ac.3590C>T (p.Ala1197Val)
c.2822C>T (p.Ala941Val)
c.3524C>T (p.Ala1175Val)
c.810C>T
 COSMIC
Xg.53380648G>CCA413241913SMC1Ac.3590C>G (p.Ala1197Gly)
c.2822C>G (p.Ala941Gly)
c.3524C>G (p.Ala1175Gly)
c.810C>G
Xg.53380648G>TCA413241921SMC1Ac.3590C>A (p.Ala1197Asp)
c.2822C>A (p.Ala941Asp)
c.3524C>A (p.Ala1175Asp)
c.810C>A
 gnomAD v4
Xg.53380649C>ACA413241924SMC1Ac.3589G>T (p.Ala1197Ser)
c.2821G>T (p.Ala941Ser)
c.3523G>T (p.Ala1175Ser)
c.809G>T
Xg.53380649C>GCA413241928SMC1Ac.3589G>C (p.Ala1197Pro)
c.2821G>C (p.Ala941Pro)
c.3523G>C (p.Ala1175Pro)
c.809G>C
Xg.53380649C>TCA413241930SMC1Ac.3589G>A (p.Ala1197Thr)
c.2821G>A (p.Ala941Thr)
c.3523G>A (p.Ala1175Thr)
c.809G>A
Xg.53380649delinsTAGAGTTCA2580101183SMC1Ac.3589delinsAACTCTA (p.Ala1197delinsAsnSerThr)
c.2821delinsAACTCTA (p.Ala941delinsAsnSerThr)
c.3523delinsAACTCTA (p.Ala1175delinsAsnSerThr)
c.809delinsAACTCTA
 ClinVar dbSNP
Xg.53380650C>ACA413241953SMC1Ac.3588G>T (p.Lys1196Asn)
c.2820G>T (p.Lys940Asn)
c.3522G>T (p.Lys1174Asn)
c.808G>T
Xg.53380650C>GCA413241956SMC1Ac.3588G>C (p.Lys1196Asn)
c.2820G>C (p.Lys940Asn)
c.3522G>C (p.Lys1174Asn)
c.808G>C
Xg.53380650C>TCA516553434SMC1Ac.3588G>A (p.Lys1196=)
c.2820G>A (p.Lys940=)
c.3522G>A (p.Lys1174=)
c.808G>A
 gnomAD v4
Xg.53380651T>ACA413241963SMC1Ac.3587A>T (p.Lys1196Met)
c.2819A>T (p.Lys940Met)
c.3521A>T (p.Lys1174Met)
c.807A>T
Xg.53380651T>CCA413241961SMC1Ac.3587A>G (p.Lys1196Arg)
c.2819A>G (p.Lys940Arg)
c.3521A>G (p.Lys1174Arg)
c.807A>G
Xg.53380651T>GCA413241959SMC1Ac.3587A>C (p.Lys1196Thr)
c.2819A>C (p.Lys940Thr)
c.3521A>C (p.Lys1174Thr)
c.807A>C
Xg.53380652T>ACA413241964SMC1Ac.3586A>T (p.Lys1196Ter)
c.2818A>T (p.Lys940Ter)
c.3520A>T (p.Lys1174Ter)
c.806A>T
Xg.53380652T>CCA413241965SMC1Ac.3586A>G (p.Lys1196Glu)
c.2818A>G (p.Lys940Glu)
c.3520A>G (p.Lys1174Glu)
c.806A>G
Xg.53380652T>GCA413241966SMC1Ac.3586A>C (p.Lys1196Gln)
c.2818A>C (p.Lys940Gln)
c.3520A>C (p.Lys1174Gln)
c.806A>C
Xg.53380653G>ACA516553445SMC1Ac.3585C>T (p.Thr1195=)
c.2817C>T (p.Thr939=)
c.3519C>T (p.Thr1173=)
c.805C>T
Xg.53380653G>CCA10420259SMC1Ac.3585C>G (p.Thr1195=)
c.2817C>G (p.Thr939=)
c.3519C>G (p.Thr1173=)
c.805C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380653G=CA2429816948SMC1Ac.3585C= (p.Thr1195=)
c.2817C= (p.Thr939=)
c.3519C= (p.Thr1173=)
c.805C=
Xg.53380653G>TCA516553447SMC1Ac.3585C>A (p.Thr1195=)
c.2817C>A (p.Thr939=)
c.3519C>A (p.Thr1173=)
c.805C>A
Xg.53380654G>ACA10420260SMC1Ac.3584C>T (p.Thr1195Ile)
c.2816C>T (p.Thr939Ile)
c.3518C>T (p.Thr1173Ile)
c.804C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380654G>CCA413241972SMC1Ac.3584C>G (p.Thr1195Ser)
c.2816C>G (p.Thr939Ser)
c.3518C>G (p.Thr1173Ser)
c.804C>G
Xg.53380654G=CA2429816949SMC1Ac.3584C= (p.Thr1195=)
c.2816C= (p.Thr939=)
c.3518C= (p.Thr1173=)
c.804C=
Xg.53380654G>TCA413241974SMC1Ac.3584C>A (p.Thr1195Asn)
c.2816C>A (p.Thr939Asn)
c.3518C>A (p.Thr1173Asn)
c.804C>A
 gnomAD v4
Xg.53380655T>ACA413241976SMC1Ac.3583A>T (p.Thr1195Ser)
c.2815A>T (p.Thr939Ser)
c.3517A>T (p.Thr1173Ser)
c.803A>T
Xg.53380655T>CCA413241978SMC1Ac.3583A>G (p.Thr1195Ala)
c.2815A>G (p.Thr939Ala)
c.3517A>G (p.Thr1173Ala)
c.803A>G
Xg.53380655T>GCA413241981SMC1Ac.3583A>C (p.Thr1195Pro)
c.2815A>C (p.Thr939Pro)
c.3517A>C (p.Thr1173Pro)
c.803A>C
Xg.53380656G>ACA516553456SMC1Ac.3582C>T (p.Tyr1194=)
c.2814C>T (p.Tyr938=)
c.3516C>T (p.Tyr1172=)
c.802C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53380656G>CCA413241989SMC1Ac.3582C>G (p.Tyr1194Ter)
c.2814C>G (p.Tyr938Ter)
c.3516C>G (p.Tyr1172Ter)
c.802C>G
Xg.53380656G=CA2429816950SMC1Ac.3582C= (p.Tyr1194=)
c.2814C= (p.Tyr938=)
c.3516C= (p.Tyr1172=)
c.802C=
Xg.53380656G>TCA413241990SMC1Ac.3582C>A (p.Tyr1194Ter)
c.2814C>A (p.Tyr938Ter)
c.3516C>A (p.Tyr1172Ter)
c.802C>A
Xg.53380657T>ACA413241998SMC1Ac.3581A>T (p.Tyr1194Phe)
c.2813A>T (p.Tyr938Phe)
c.3515A>T (p.Tyr1172Phe)
c.801A>T
Xg.53380657T>CCA413241995SMC1Ac.3581A>G (p.Tyr1194Cys)
c.2813A>G (p.Tyr938Cys)
c.3515A>G (p.Tyr1172Cys)
c.801A>G
Xg.53380657T>GCA413241993SMC1Ac.3581A>C (p.Tyr1194Ser)
c.2813A>C (p.Tyr938Ser)
c.3515A>C (p.Tyr1172Ser)
c.801A>C
Xg.53380658delCA2579615479SMC1Ac.3580del (p.Tyr1194ThrfsTer18)
c.2812del (p.Tyr938ThrfsTer18)
c.3514del (p.Tyr1172ThrfsTer18)
c.800del
Xg.53380658A>CCA413241999SMC1Ac.3580T>G (p.Tyr1194Asp)
c.2812T>G (p.Tyr938Asp)
c.3514T>G (p.Tyr1172Asp)
c.800T>G
Xg.53380658A>GCA413242000SMC1Ac.3580T>C (p.Tyr1194His)
c.2812T>C (p.Tyr938His)
c.3514T>C (p.Tyr1172His)
c.800T>C
Xg.53380658A>TCA413242001SMC1Ac.3580T>A (p.Tyr1194Asn)
c.2812T>A (p.Tyr938Asn)
c.3514T>A (p.Tyr1172Asn)
c.800T>A
Xg.53380659G>ACA516553466SMC1Ac.3579C>T (p.Phe1193=)
c.2811C>T (p.Phe937=)
c.3513C>T (p.Phe1171=)
c.799C>T
Xg.53380659G>CCA413242002SMC1Ac.3579C>G (p.Phe1193Leu)
c.2811C>G (p.Phe937Leu)
c.3513C>G (p.Phe1171Leu)
c.799C>G
Xg.53380659G>TCA413242003SMC1Ac.3579C>A (p.Phe1193Leu)
c.2811C>A (p.Phe937Leu)
c.3513C>A (p.Phe1171Leu)
c.799C>A
 gnomAD v4
Xg.53380660A=CA2429816951SMC1Ac.3578T= (p.Phe1193=)
c.2810T= (p.Phe937=)
c.3512T= (p.Phe1171=)
c.798T=
Xg.53380660A>CCA358103SMC1Ac.3578T>G (p.Phe1193Cys)
c.2810T>G (p.Phe937Cys)
c.3512T>G (p.Phe1171Cys)
c.798T>G
 ClinVar dbSNP
Xg.53380660A>GCA413242006SMC1Ac.3578T>C (p.Phe1193Ser)
c.2810T>C (p.Phe937Ser)
c.3512T>C (p.Phe1171Ser)
c.798T>C
Xg.53380660A>TCA413242009SMC1Ac.3578T>A (p.Phe1193Tyr)
c.2810T>A (p.Phe937Tyr)
c.3512T>A (p.Phe1171Tyr)
c.798T>A
Xg.53380661A>CCA413242013SMC1Ac.3577T>G (p.Phe1193Val)
c.2809T>G (p.Phe937Val)
c.3511T>G (p.Phe1171Val)
c.797T>G
Xg.53380661A>GCA413242014SMC1Ac.3577T>C (p.Phe1193Leu)
c.2809T>C (p.Phe937Leu)
c.3511T>C (p.Phe1171Leu)
c.797T>C
Xg.53380661A>TCA413242017SMC1Ac.3577T>A (p.Phe1193Ile)
c.2809T>A (p.Phe937Ile)
c.3511T>A (p.Phe1171Ile)
c.797T>A
Xg.53380662C>ACA413242023SMC1Ac.3576G>T (p.Glu1192Asp)
c.2808G>T (p.Glu936Asp)
c.3510G>T (p.Glu1170Asp)
c.796G>T
Xg.53380662C>GCA413242025SMC1Ac.3576G>C (p.Glu1192Asp)
c.2808G>C (p.Glu936Asp)
c.3510G>C (p.Glu1170Asp)
c.796G>C
Xg.53380662C>TCA516553481SMC1Ac.3576G>A (p.Glu1192=)
c.2808G>A (p.Glu936=)
c.3510G>A (p.Glu1170=)
c.796G>A
Xg.53380667_53380669delCA2695234305SMC1Ac.3574_3576del (p.Glu1192del)
c.2806_2808del (p.Glu936del)
c.3508_3510del (p.Glu1170del)
c.794_796del
Xg.53380663T>ACA413242051SMC1Ac.3575A>T (p.Glu1192Val)
c.2807A>T (p.Glu936Val)
c.3509A>T (p.Glu1170Val)
c.795A>T
Xg.53380663T>CCA413242047SMC1Ac.3575A>G (p.Glu1192Gly)
c.2807A>G (p.Glu936Gly)
c.3509A>G (p.Glu1170Gly)
c.795A>G
Xg.53380663T>GCA413242032SMC1Ac.3575A>C (p.Glu1192Ala)
c.2807A>C (p.Glu936Ala)
c.3509A>C (p.Glu1170Ala)
c.795A>C
Xg.53380664C>ACA413242054SMC1Ac.3574G>T (p.Glu1192Ter)
c.2806G>T (p.Glu936Ter)
c.3508G>T (p.Glu1170Ter)
c.794G>T
Xg.53380664C>GCA413242053SMC1Ac.3574G>C (p.Glu1192Gln)
c.2806G>C (p.Glu936Gln)
c.3508G>C (p.Glu1170Gln)
c.794G>C
Xg.53380664C>TCA413242058SMC1Ac.3574G>A (p.Glu1192Lys)
c.2806G>A (p.Glu936Lys)
c.3508G>A (p.Glu1170Lys)
c.794G>A
Xg.53380664_53380665insGGTGGTCA2548188918SMC1Ac.3573_3574insACCACC (p.Glu1191_Glu1192insThrThr)
c.2805_2806insACCACC (p.Glu935_Glu936insThrThr)
c.3507_3508insACCACC (p.Glu1169_Glu1170insThrThr)
c.793_794insACCACC
Xg.53380665C>ACA413242060SMC1Ac.3573G>T (p.Glu1191Asp)
c.2805G>T (p.Glu935Asp)
c.3507G>T (p.Glu1169Asp)
c.793G>T
Xg.53380665C>GCA413242061SMC1Ac.3573G>C (p.Glu1191Asp)
c.2805G>C (p.Glu935Asp)
c.3507G>C (p.Glu1169Asp)
c.793G>C
Xg.53380665C>TCA516553491SMC1Ac.3573G>A (p.Glu1191=)
c.2805G>A (p.Glu935=)
c.3507G>A (p.Glu1169=)
c.793G>A
Xg.53380665_53380666insGCCGTACA2528807567SMC1Ac.3572_3573insTACGGC (p.Glu1191delinsAspThrAla)
c.2804_2805insTACGGC (p.Glu935delinsAspThrAla)
c.3506_3507insTACGGC (p.Glu1169delinsAspThrAla)
c.792_793insTACGGC
Xg.53380666T>ACA413242065SMC1Ac.3572A>T (p.Glu1191Val)
c.2804A>T (p.Glu935Val)
c.3506A>T (p.Glu1169Val)
c.792A>T
Xg.53380666T>CCA413242067SMC1Ac.3572A>G (p.Glu1191Gly)
c.2804A>G (p.Glu935Gly)
c.3506A>G (p.Glu1169Gly)
c.792A>G
Xg.53380666T>GCA413242069SMC1Ac.3572A>C (p.Glu1191Ala)
c.2804A>C (p.Glu935Ala)
c.3506A>C (p.Glu1169Ala)
c.792A>C
Xg.53380667C>ACA413242070SMC1Ac.3571G>T (p.Glu1191Ter)
c.2803G>T (p.Glu935Ter)
c.3505G>T (p.Glu1169Ter)
c.791G>T
Xg.53380667C>GCA413242071SMC1Ac.3571G>C (p.Glu1191Gln)
c.2803G>C (p.Glu935Gln)
c.3505G>C (p.Glu1169Gln)
c.791G>C
Xg.53380667C>TCA413242072SMC1Ac.3571G>A (p.Glu1191Lys)
c.2803G>A (p.Glu935Lys)
c.3505G>A (p.Glu1169Lys)
c.791G>A
Xg.53380668C>ACA413242089SMC1Ac.3570G>T (p.Lys1190Asn)
c.2802G>T (p.Lys934Asn)
c.3504G>T (p.Lys1168Asn)
c.790G>T
Xg.53380668C=CA2429816952SMC1Ac.3570G= (p.Lys1190=)
c.2802G= (p.Lys934=)
c.3504G= (p.Lys1168=)
c.790G=
Xg.53380668C>GCA413242095SMC1Ac.3570G>C (p.Lys1190Asn)
c.2802G>C (p.Lys934Asn)
c.3504G>C (p.Lys1168Asn)
c.790G>C
Xg.53380668C>TCA10420261SMC1Ac.3570G>A (p.Lys1190=)
c.2802G>A (p.Lys934=)
c.3504G>A (p.Lys1168=)
c.790G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380669T>ACA413242096SMC1Ac.3569A>T (p.Lys1190Met)
c.2801A>T (p.Lys934Met)
c.3503A>T (p.Lys1168Met)
c.789A>T
Xg.53380669T>CCA413242097SMC1Ac.3569A>G (p.Lys1190Arg)
c.2801A>G (p.Lys934Arg)
c.3503A>G (p.Lys1168Arg)
c.789A>G
Xg.53380669T>GCA413242099SMC1Ac.3569A>C (p.Lys1190Thr)
c.2801A>C (p.Lys934Thr)
c.3503A>C (p.Lys1168Thr)
c.789A>C
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
Xg.53380684A>CCA413242186SMC1Ac.3554T>G (p.Ile1185Ser)
c.2786T>G (p.Ile929Ser)
c.3488T>G (p.Ile1163Ser)
c.774T>G
Xg.53380684A>GCA413242188SMC1Ac.3554T>C (p.Ile1185Thr)
c.2786T>C (p.Ile929Thr)
c.3488T>C (p.Ile1163Thr)
c.774T>C
Xg.53380684A>TCA413242189SMC1Ac.3554T>A (p.Ile1185Asn)
c.2786T>A (p.Ile929Asn)
c.3488T>A (p.Ile1163Asn)
c.774T>A
Xg.53380685T>ACA413242191SMC1Ac.3553A>T (p.Ile1185Phe)
c.2785A>T (p.Ile929Phe)
c.3487A>T (p.Ile1163Phe)
c.773A>T
Xg.53380685T>CCA329906061SMC1Ac.3553A>G (p.Ile1185Val)
c.2785A>G (p.Ile929Val)
c.3487A>G (p.Ile1163Val)
c.773A>G
 dbSNP gnomAD v4
Xg.53380685T>GCA413242204SMC1Ac.3553A>C (p.Ile1185Leu)
c.2785A>C (p.Ile929Leu)
c.3487A>C (p.Ile1163Leu)
c.773A>C
Xg.53380685T=CA2429816957SMC1Ac.3553A= (p.Ile1185=)
c.2785A= (p.Ile929=)
c.3487A= (p.Ile1163=)
c.773A=
Xg.53380686G>ACA516553572SMC1Ac.3552C>T (p.Ala1184=)
c.2784C>T (p.Ala928=)
c.3486C>T (p.Ala1162=)
c.772C>T
Xg.53380686G>CCA516553573SMC1Ac.3552C>G (p.Ala1184=)
c.2784C>G (p.Ala928=)
c.3486C>G (p.Ala1162=)
c.772C>G
Xg.53380686G>TCA516553575SMC1Ac.3552C>A (p.Ala1184=)
c.2784C>A (p.Ala928=)
c.3486C>A (p.Ala1162=)
c.772C>A
Xg.53380686_53380689dupCA277857SMC1Ac.3549_3552dup (p.Ile1185GlyfsTer23)
c.2781_2784dup (p.Ile929GlyfsTer23)
c.3483_3486dup (p.Ile1163GlyfsTer23)
c.769_772dup
 ClinVar dbSNP
Xg.53380687G>ACA413242208SMC1Ac.3551C>T (p.Ala1184Val)
c.2783C>T (p.Ala928Val)
c.3485C>T (p.Ala1162Val)
c.771C>T
Xg.53380687G>CCA413242210SMC1Ac.3551C>G (p.Ala1184Gly)
c.2783C>G (p.Ala928Gly)
c.3485C>G (p.Ala1162Gly)
c.771C>G
Xg.53380687G>TCA413242214SMC1Ac.3551C>A (p.Ala1184Asp)
c.2783C>A (p.Ala928Asp)
c.3485C>A (p.Ala1162Asp)
c.771C>A
Xg.53380688C>ACA413242217SMC1Ac.3550G>T (p.Ala1184Ser)
c.2782G>T (p.Ala928Ser)
c.3484G>T (p.Ala1162Ser)
c.770G>T
Xg.53380688C>GCA413242218SMC1Ac.3550G>C (p.Ala1184Pro)
c.2782G>C (p.Ala928Pro)
c.3484G>C (p.Ala1162Pro)
c.770G>C
Xg.53380688C>TCA413242219SMC1Ac.3550G>A (p.Ala1184Thr)
c.2782G>A (p.Ala928Thr)
c.3484G>A (p.Ala1162Thr)
c.770G>A
 gnomAD v4
Xg.53380689C>ACA413242221SMC1Ac.3549G>T (p.Gln1183His)
c.2781G>T (p.Gln927His)
c.3483G>T (p.Gln1161His)
c.769G>T
Xg.53380689C>GCA413242220SMC1Ac.3549G>C (p.Gln1183His)
c.2781G>C (p.Gln927His)
c.3483G>C (p.Gln1161His)
c.769G>C
Xg.53380689C>TCA516553590SMC1Ac.3549G>A (p.Gln1183=)
c.2781G>A (p.Gln927=)
c.3483G>A (p.Gln1161=)
c.769G>A
 ClinVar dbSNP
Xg.53380690T>ACA413242224SMC1Ac.3548A>T (p.Gln1183Leu)
c.2780A>T (p.Gln927Leu)
c.3482A>T (p.Gln1161Leu)
c.768A>T
Xg.53380690T>CCA413242229SMC1Ac.3548A>G (p.Gln1183Arg)
c.2780A>G (p.Gln927Arg)
c.3482A>G (p.Gln1161Arg)
c.768A>G
Xg.53380690T>GCA413242226SMC1Ac.3548A>C (p.Gln1183Pro)
c.2780A>C (p.Gln927Pro)
c.3482A>C (p.Gln1161Pro)
c.768A>C
Xg.53380691G>ACA413242230SMC1Ac.3547C>T (p.Gln1183Ter)
c.2779C>T (p.Gln927Ter)
c.3481C>T (p.Gln1161Ter)
c.767C>T
Xg.53380691G>CCA413242232SMC1Ac.3547C>G (p.Gln1183Glu)
c.2779C>G (p.Gln927Glu)
c.3481C>G (p.Gln1161Glu)
c.767C>G
Xg.53380691G>TCA413242234SMC1Ac.3547C>A (p.Gln1183Lys)
c.2779C>A (p.Gln927Lys)
c.3481C>A (p.Gln1161Lys)
c.767C>A
Xg.53380692delCA2579615489SMC1Ac.3547del (p.Gln1183ArgfsTer29)
c.2779del (p.Gln927ArgfsTer29)
c.3481del (p.Gln1161ArgfsTer29)
c.767del
Xg.53380692G>ACA516553601SMC1Ac.3546C>T (p.Phe1182=)
c.2778C>T (p.Phe926=)
c.3480C>T (p.Phe1160=)
c.766C>T
Xg.53380692G>CCA413242237SMC1Ac.3546C>G (p.Phe1182Leu)
c.2778C>G (p.Phe926Leu)
c.3480C>G (p.Phe1160Leu)
c.766C>G
Xg.53380692G>TCA413242239SMC1Ac.3546C>A (p.Phe1182Leu)
c.2778C>A (p.Phe926Leu)
c.3480C>A (p.Phe1160Leu)
c.766C>A
Xg.53380693A>CCA413242243SMC1Ac.3545T>G (p.Phe1182Cys)
c.2777T>G (p.Phe926Cys)
c.3479T>G (p.Phe1160Cys)
c.765T>G
Xg.53380693A>GCA413242245SMC1Ac.3545T>C (p.Phe1182Ser)
c.2777T>C (p.Phe926Ser)
c.3479T>C (p.Phe1160Ser)
c.765T>C
Xg.53380693A>TCA413242248SMC1Ac.3545T>A (p.Phe1182Tyr)
c.2777T>A (p.Phe926Tyr)
c.3479T>A (p.Phe1160Tyr)
c.765T>A
Xg.53380694A>CCA413242251SMC1Ac.3544T>G (p.Phe1182Val)
c.2776T>G (p.Phe926Val)
c.3478T>G (p.Phe1160Val)
c.764T>G
Xg.53380694A>GCA413242253SMC1Ac.3544T>C (p.Phe1182Leu)
c.2776T>C (p.Phe926Leu)
c.3478T>C (p.Phe1160Leu)
c.764T>C
Xg.53380694A>TCA413242256SMC1Ac.3544T>A (p.Phe1182Ile)
c.2776T>A (p.Phe926Ile)
c.3478T>A (p.Phe1160Ile)
c.764T>A
Xg.53380695G>ACA516553609SMC1Ac.3543C>T (p.Asn1181=)
c.2775C>T (p.Asn925=)
c.3477C>T (p.Asn1159=)
c.763C>T
Xg.53380695G>CCA413242259SMC1Ac.3543C>G (p.Asn1181Lys)
c.2775C>G (p.Asn925Lys)
c.3477C>G (p.Asn1159Lys)
c.763C>G
Xg.53380695G>TCA413242261SMC1Ac.3543C>A (p.Asn1181Lys)
c.2775C>A (p.Asn925Lys)
c.3477C>A (p.Asn1159Lys)
c.763C>A
Xg.53380696T>ACA413242270SMC1Ac.3542A>T (p.Asn1181Ile)
c.2774A>T (p.Asn925Ile)
c.3476A>T (p.Asn1159Ile)
c.762A>T
Xg.53380696T>CCA413242264SMC1Ac.3542A>G (p.Asn1181Ser)
c.2774A>G (p.Asn925Ser)
c.3476A>G (p.Asn1159Ser)
c.762A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53380696T>GCA413242267SMC1Ac.3542A>C (p.Asn1181Thr)
c.2774A>C (p.Asn925Thr)
c.3476A>C (p.Asn1159Thr)
c.762A>C
 gnomAD v4
Xg.53380696T=CA2429816958SMC1Ac.3542A= (p.Asn1181=)
c.2774A= (p.Asn925=)
c.3476A= (p.Asn1159=)
c.762A=
Xg.53380697T>ACA413242273SMC1Ac.3541A>T (p.Asn1181Tyr)
c.2773A>T (p.Asn925Tyr)
c.3475A>T (p.Asn1159Tyr)
c.761A>T
Xg.53380697T>CCA413242275SMC1Ac.3541A>G (p.Asn1181Asp)
c.2773A>G (p.Asn925Asp)
c.3475A>G (p.Asn1159Asp)
c.761A>G
Xg.53380697T>GCA413242283SMC1Ac.3541A>C (p.Asn1181His)
c.2773A>C (p.Asn925His)
c.3475A>C (p.Asn1159His)
c.761A>C
Xg.53380698G>ACA516553619SMC1Ac.3540C>T (p.Cys1180=)
c.2772C>T (p.Cys924=)
c.3474C>T (p.Cys1158=)
c.760C>T
Xg.53380698G>CCA413242286SMC1Ac.3540C>G (p.Cys1180Trp)
c.2772C>G (p.Cys924Trp)
c.3474C>G (p.Cys1158Trp)
c.760C>G
Xg.53380698G>TCA413242289SMC1Ac.3540C>A (p.Cys1180Ter)
c.2772C>A (p.Cys924Ter)
c.3474C>A (p.Cys1158Ter)
c.760C>A
Xg.53380699C>ACA413242298SMC1Ac.3539G>T (p.Cys1180Phe)
c.2771G>T (p.Cys924Phe)
c.3473G>T (p.Cys1158Phe)
c.759G>T
Xg.53380699C=CA2429816959SMC1Ac.3539G= (p.Cys1180=)
c.2771G= (p.Cys924=)
c.3473G= (p.Cys1158=)
c.759G=
Xg.53380699C>GCA413242300SMC1Ac.3539G>C (p.Cys1180Ser)
c.2771G>C (p.Cys924Ser)
c.3473G>C (p.Cys1158Ser)
c.759G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380699C>TCA413242302SMC1Ac.3539G>A (p.Cys1180Tyr)
c.2771G>A (p.Cys924Tyr)
c.3473G>A (p.Cys1158Tyr)
c.759G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53380700A>CCA413242305SMC1Ac.3538T>G (p.Cys1180Gly)
c.2770T>G (p.Cys924Gly)
c.3472T>G (p.Cys1158Gly)
c.758T>G
Xg.53380700A>GCA413242306SMC1Ac.3538T>C (p.Cys1180Arg)
c.2770T>C (p.Cys924Arg)
c.3472T>C (p.Cys1158Arg)
c.758T>C
Xg.53380700A>TCA413242313SMC1Ac.3538T>A (p.Cys1180Ser)
c.2770T>A (p.Cys924Ser)
c.3472T>A (p.Cys1158Ser)
c.758T>A
Xg.53380701A>CCA516553629SMC1Ac.3537T>G (p.Thr1179=)
c.2769T>G (p.Thr923=)
c.3471T>G (p.Thr1157=)
c.757T>G
Xg.53380701A>GCA516553631SMC1Ac.3537T>C (p.Thr1179=)
c.2769T>C (p.Thr923=)
c.3471T>C (p.Thr1157=)
c.757T>C
Xg.53380701A>TCA516553633SMC1Ac.3537T>A (p.Thr1179=)
c.2769T>A (p.Thr923=)
c.3471T>A (p.Thr1157=)
c.757T>A
Xg.53380702G>ACA413242323SMC1Ac.3536C>T (p.Thr1179Ile)
c.2768C>T (p.Thr923Ile)
c.3470C>T (p.Thr1157Ile)
c.756C>T
 gnomAD v4
Xg.53380702G>CCA413242322SMC1Ac.3536C>G (p.Thr1179Ser)
c.2768C>G (p.Thr923Ser)
c.3470C>G (p.Thr1157Ser)
c.756C>G
Xg.53380702G>TCA413242319SMC1Ac.3536C>A (p.Thr1179Asn)
c.2768C>A (p.Thr923Asn)
c.3470C>A (p.Thr1157Asn)
c.756C>A
Xg.53380703T>ACA413242325SMC1Ac.3535A>T (p.Thr1179Ser)
c.2767A>T (p.Thr923Ser)
c.3469A>T (p.Thr1157Ser)
c.755A>T
Xg.53380703T>CCA413242327SMC1Ac.3535A>G (p.Thr1179Ala)
c.2767A>G (p.Thr923Ala)
c.3469A>G (p.Thr1157Ala)
c.755A>G
Xg.53380703T>GCA413242330SMC1Ac.3535A>C (p.Thr1179Pro)
c.2767A>C (p.Thr923Pro)
c.3469A>C (p.Thr1157Pro)
c.755A>C
Xg.53380704C>ACA516553641SMC1Ac.3534G>T (p.Ser1178=)
c.2766G>T (p.Ser922=)
c.3468G>T (p.Ser1156=)
c.754G>T
 dbSNP
Xg.53380704C=CA2429816960SMC1Ac.3534G= (p.Ser1178=)
c.2766G= (p.Ser922=)
c.3468G= (p.Ser1156=)
c.754G=
Xg.53380704C>GCA10420265SMC1Ac.3534G>C (p.Ser1178=)
c.2766G>C (p.Ser922=)
c.3468G>C (p.Ser1156=)
c.754G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380704C>TCA10420264SMC1Ac.3534G>A (p.Ser1178=)
c.2766G>A (p.Ser922=)
c.3468G>A (p.Ser1156=)
c.754G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380705G>ACA413242339SMC1Ac.3533C>T (p.Ser1178Leu)
c.2765C>T (p.Ser922Leu)
c.3467C>T (p.Ser1156Leu)
c.753C>T
 ClinVar
Xg.53380705G>CCA413242342SMC1Ac.3533C>G (p.Ser1178Trp)
c.2765C>G (p.Ser922Trp)
c.3467C>G (p.Ser1156Trp)
c.753C>G
Xg.53380705G>TCA413242345SMC1Ac.3533C>A (p.Ser1178Ter)
c.2765C>A (p.Ser922Ter)
c.3467C>A (p.Ser1156Ter)
c.753C>A
Xg.53380706A>CCA413242348SMC1Ac.3532T>G (p.Ser1178Ala)
c.2764T>G (p.Ser922Ala)
c.3466T>G (p.Ser1156Ala)
c.752T>G
Xg.53380706A>GCA413242354SMC1Ac.3532T>C (p.Ser1178Pro)
c.2764T>C (p.Ser922Pro)
c.3466T>C (p.Ser1156Pro)
c.752T>C
Xg.53380706A>TCA413242356SMC1Ac.3532T>A (p.Ser1178Thr)
c.2764T>A (p.Ser922Thr)
c.3466T>A (p.Ser1156Thr)
c.752T>A
Xg.53380707C>ACA413242362SMC1Ac.3531G>T (p.Gln1177His)
c.2763G>T (p.Gln921His)
c.3465G>T (p.Gln1155His)
c.751G>T
Xg.53380707C>GCA413242364SMC1Ac.3531G>C (p.Gln1177His)
c.2763G>C (p.Gln921His)
c.3465G>C (p.Gln1155His)
c.751G>C
Xg.53380707C>TCA516553654SMC1Ac.3531G>A (p.Gln1177=)
c.2763G>A (p.Gln921=)
c.3465G>A (p.Gln1155=)
c.751G>A
 gnomAD v4
Xg.53380708T>ACA413242371SMC1Ac.3530A>T (p.Gln1177Leu)
c.2762A>T (p.Gln921Leu)
c.3464A>T (p.Gln1155Leu)
c.750A>T
Xg.53380708T>CCA413242366SMC1Ac.3530A>G (p.Gln1177Arg)
c.2762A>G (p.Gln921Arg)
c.3464A>G (p.Gln1155Arg)
c.750A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53380708T>GCA413242369SMC1Ac.3530A>C (p.Gln1177Pro)
c.2762A>C (p.Gln921Pro)
c.3464A>C (p.Gln1155Pro)
c.750A>C
Xg.53380708T=CA2429816961SMC1Ac.3530A= (p.Gln1177=)
c.2762A= (p.Gln921=)
c.3464A= (p.Gln1155=)
c.750A=
Xg.53380709G>ACA413242373SMC1Ac.3529C>T (p.Gln1177Ter)
c.2761C>T (p.Gln921Ter)
c.3463C>T (p.Gln1155Ter)
c.749C>T
Xg.53380709G>CCA413242375SMC1Ac.3529C>G (p.Gln1177Glu)
c.2761C>G (p.Gln921Glu)
c.3463C>G (p.Gln1155Glu)
c.749C>G
Xg.53380709G>TCA413242378SMC1Ac.3529C>A (p.Gln1177Lys)
c.2761C>A (p.Gln921Lys)
c.3463C>A (p.Gln1155Lys)
c.749C>A
Xg.53380710C>ACA413242380SMC1Ac.3528G>T (p.Glu1176Asp)
c.2760G>T (p.Glu920Asp)
c.3462G>T (p.Glu1154Asp)
c.748G>T
Xg.53380710C>GCA413242383SMC1Ac.3528G>C (p.Glu1176Asp)
c.2760G>C (p.Glu920Asp)
c.3462G>C (p.Glu1154Asp)
c.748G>C
Xg.53380710C>TCA516553661SMC1Ac.3528G>A (p.Glu1176=)
c.2760G>A (p.Glu920=)
c.3462G>A (p.Glu1154=)
c.748G>A
 ClinVar gnomAD v4
Xg.53380711T>ACA413242390SMC1Ac.3527A>T (p.Glu1176Val)
c.2759A>T (p.Glu920Val)
c.3461A>T (p.Glu1154Val)
c.747A>T
Xg.53380711T>CCA413242391SMC1Ac.3527A>G (p.Glu1176Gly)
c.2759A>G (p.Glu920Gly)
c.3461A>G (p.Glu1154Gly)
c.747A>G
Xg.53380711T>GCA413242396SMC1Ac.3527A>C (p.Glu1176Ala)
c.2759A>C (p.Glu920Ala)
c.3461A>C (p.Glu1154Ala)
c.747A>C
Xg.53380712C>ACA413242399SMC1Ac.3526G>T (p.Glu1176Ter)
c.2758G>T (p.Glu920Ter)
c.3460G>T (p.Glu1154Ter)
c.746G>T
Xg.53380712C>GCA413242400SMC1Ac.3526G>C (p.Glu1176Gln)
c.2758G>C (p.Glu920Gln)
c.3460G>C (p.Glu1154Gln)
c.746G>C
Xg.53380712C>TCA413242403SMC1Ac.3526G>A (p.Glu1176Lys)
c.2758G>A (p.Glu920Lys)
c.3460G>A (p.Glu1154Lys)
c.746G>A
Xg.53380713C>ACA413242406SMC1Ac.3525G>T (p.Lys1175Asn)
c.2757G>T (p.Lys919Asn)
c.3459G>T (p.Lys1153Asn)
c.745G>T
Xg.53380713C>GCA413242408SMC1Ac.3525G>C (p.Lys1175Asn)
c.2757G>C (p.Lys919Asn)
c.3459G>C (p.Lys1153Asn)
c.745G>C
Xg.53380713C>TCA516553669SMC1Ac.3525G>A (p.Lys1175=)
c.2757G>A (p.Lys919=)
c.3459G>A (p.Lys1153=)
c.745G>A
Xg.53380714T>ACA413242417SMC1Ac.3524A>T (p.Lys1175Met)
c.2756A>T (p.Lys919Met)
c.3458A>T (p.Lys1153Met)
c.744A>T
Xg.53380714T>CCA413242412SMC1Ac.3524A>G (p.Lys1175Arg)
c.2756A>G (p.Lys919Arg)
c.3458A>G (p.Lys1153Arg)
c.744A>G
Xg.53380714T>GCA413242411SMC1Ac.3524A>C (p.Lys1175Thr)
c.2756A>C (p.Lys919Thr)
c.3458A>C (p.Lys1153Thr)
c.744A>C
Xg.53380715T>ACA413242426SMC1Ac.3523A>T (p.Lys1175Ter)
c.2755A>T (p.Lys919Ter)
c.3457A>T (p.Lys1153Ter)
c.743A>T
Xg.53380715T>CCA413242431SMC1Ac.3523A>G (p.Lys1175Glu)
c.2755A>G (p.Lys919Glu)
c.3457A>G (p.Lys1153Glu)
c.743A>G
Xg.53380715T>GCA413242428SMC1Ac.3523A>C (p.Lys1175Gln)
c.2755A>C (p.Lys919Gln)
c.3457A>C (p.Lys1153Gln)
c.743A>C
Xg.53380716G>ACA516553680SMC1Ac.3522C>T (p.Ile1174=)
c.2754C>T (p.Ile918=)
c.3456C>T (p.Ile1152=)
c.742C>T
Xg.53380716G>CCA413242433SMC1Ac.3522C>G (p.Ile1174Met)
c.2754C>G (p.Ile918Met)
c.3456C>G (p.Ile1152Met)
c.742C>G
Xg.53380716G>TCA516553683SMC1Ac.3522C>A (p.Ile1174=)
c.2754C>A (p.Ile918=)
c.3456C>A (p.Ile1152=)
c.742C>A
Xg.53380717A>CCA413242436SMC1Ac.3521T>G (p.Ile1174Ser)
c.2753T>G (p.Ile918Ser)
c.3455T>G (p.Ile1152Ser)
c.741T>G
Xg.53380717A>GCA413242438SMC1Ac.3521T>C (p.Ile1174Thr)
c.2753T>C (p.Ile918Thr)
c.3455T>C (p.Ile1152Thr)
c.741T>C
Xg.53380717A>TCA413242440SMC1Ac.3521T>A (p.Ile1174Asn)
c.2753T>A (p.Ile918Asn)
c.3455T>A (p.Ile1152Asn)
c.741T>A
Xg.53380718T>ACA413242443SMC1Ac.3520A>T (p.Ile1174Phe)
c.2752A>T (p.Ile918Phe)
c.3454A>T (p.Ile1152Phe)
c.740A>T
Xg.53380718T>CCA413242444SMC1Ac.3520A>G (p.Ile1174Val)
c.2752A>G (p.Ile918Val)
c.3454A>G (p.Ile1152Val)
c.740A>G
Xg.53380718T>GCA413242446SMC1Ac.3520A>C (p.Ile1174Leu)
c.2752A>C (p.Ile918Leu)
c.3454A>C (p.Ile1152Leu)
c.740A>C
Xg.53380719G>ACA516553692SMC1Ac.3519C>T (p.Tyr1173=)
c.2751C>T (p.Tyr917=)
c.3453C>T (p.Tyr1151=)
c.739C>T
 gnomAD v4
Xg.53380719G>CCA413242448SMC1Ac.3519C>G (p.Tyr1173Ter)
c.2751C>G (p.Tyr917Ter)
c.3453C>G (p.Tyr1151Ter)
c.739C>G
Xg.53380719G>TCA413242450SMC1Ac.3519C>A (p.Tyr1173Ter)
c.2751C>A (p.Tyr917Ter)
c.3453C>A (p.Tyr1151Ter)
c.739C>A

Number of alleles fetched