Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53382471G>ACA2693803826SMC1Ac.3285+35C>T (n.3285+35C>T)
c.2517+35C>T (n.2517+35C>T)
c.3219+35C>T (n.3219+35C>T)
n.141+35C>T
c.575+35C>T
 gnomAD v4
Xg.53382471G>TCA2693803825SMC1Ac.3285+35C>A (n.3285+35C>A)
c.2517+35C>A (n.2517+35C>A)
c.3219+35C>A (n.3219+35C>A)
n.141+35C>A
c.575+35C>A
 gnomAD v4
Xg.53382475G>TCA2820953862SMC1Ac.3285+31C>A (n.3285+31C>A)
c.2517+31C>A (n.2517+31C>A)
c.3219+31C>A (n.3219+31C>A)
n.141+31C>A
c.575+31C>A
Xg.53382476C>ACA2693803827SMC1Ac.3285+30G>T (n.3285+30G>T)
c.2517+30G>T (n.2517+30G>T)
c.3219+30G>T (n.3219+30G>T)
n.141+30G>T
c.575+30G>T
 gnomAD v4
Xg.53382478G>ACA2429817454SMC1Ac.3285+28C>T (n.3285+28C>T)
c.2517+28C>T (n.2517+28C>T)
c.3219+28C>T (n.3219+28C>T)
n.141+28C>T
c.575+28C>T
 dbSNP gnomAD v4
Xg.53382478G=CA2429817453SMC1Ac.3285+28C= (n.3285+28C=)
c.2517+28C= (n.2517+28C=)
c.3219+28C= (n.3219+28C=)
n.141+28C=
c.575+28C=
Xg.53382479C>ACA2693803828SMC1Ac.3285+27G>T (n.3285+27G>T)
c.2517+27G>T (n.2517+27G>T)
c.3219+27G>T (n.3219+27G>T)
n.141+27G>T
c.575+27G>T
 gnomAD v4
Xg.53382479C=CA2429817455SMC1Ac.3285+27G= (n.3285+27G=)
c.2517+27G= (n.2517+27G=)
c.3219+27G= (n.3219+27G=)
n.141+27G=
c.575+27G=
Xg.53382479C>TCA10420311SMC1Ac.3285+27G>A (n.3285+27G>A)
c.2517+27G>A (n.2517+27G>A)
c.3219+27G>A (n.3219+27G>A)
n.141+27G>A
c.575+27G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53382480T=CA2429817456SMC1Ac.3285+26A= (n.3285+26A=)
c.2517+26A= (n.2517+26A=)
c.3219+26A= (n.3219+26A=)
n.141+26A=
c.575+26A=
Xg.53382480_53382481insACAACCA920412758SMC1Ac.3285+25_3285+26insGTTGT (n.3285+25_3285+26insGTTGT)
c.2517+25_2517+26insGTTGT (n.2517+25_2517+26insGTTGT)
c.3219+25_3219+26insGTTGT (n.3219+25_3219+26insGTTGT)
n.141+25_141+26insGTTGT
c.575+25_575+26insGTTGT
 dbSNP
Xg.53382481G=CA2429817457SMC1Ac.3285+25C= (n.3285+25C=)
c.2517+25C= (n.2517+25C=)
c.3219+25C= (n.3219+25C=)
n.141+25C=
c.575+25C=
Xg.53382481G>TCA2429817458SMC1Ac.3285+25C>A (n.3285+25C>A)
c.2517+25C>A (n.2517+25C>A)
c.3219+25C>A (n.3219+25C>A)
n.141+25C>A
c.575+25C>A
 dbSNP
Xg.53382483T>CCA329906127SMC1Ac.3285+23A>G (n.3285+23A>G)
c.2517+23A>G (n.2517+23A>G)
c.3219+23A>G (n.3219+23A>G)
n.141+23A>G
c.575+23A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382483T=CA2429817459SMC1Ac.3285+23A= (n.3285+23A=)
c.2517+23A= (n.2517+23A=)
c.3219+23A= (n.3219+23A=)
n.141+23A=
c.575+23A=
Xg.53382484T>GCA10420312SMC1Ac.3285+22A>C (n.3285+22A>C)
c.2517+22A>C (n.2517+22A>C)
c.3219+22A>C (n.3219+22A>C)
n.141+22A>C
c.575+22A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53382484T=CA2429817460SMC1Ac.3285+22A= (n.3285+22A=)
c.2517+22A= (n.2517+22A=)
c.3219+22A= (n.3219+22A=)
n.141+22A=
c.575+22A=
Xg.53382485G>ACA641906883SMC1Ac.3285+21C>T (n.3285+21C>T)
c.2517+21C>T (n.2517+21C>T)
c.3219+21C>T (n.3219+21C>T)
n.141+21C>T
c.575+21C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53382485G=CA2429817461SMC1Ac.3285+21C= (n.3285+21C=)
c.2517+21C= (n.2517+21C=)
c.3219+21C= (n.3219+21C=)
n.141+21C=
c.575+21C=
Xg.53382486G>CCA2741751562SMC1Ac.3285+20C>G (n.3285+20C>G)
c.2517+20C>G (n.2517+20C>G)
c.3219+20C>G (n.3219+20C>G)
n.141+20C>G
c.575+20C>G
Xg.53382486G=CA2429817462SMC1Ac.3285+20C= (n.3285+20C=)
c.2517+20C= (n.2517+20C=)
c.3219+20C= (n.3219+20C=)
n.141+20C=
c.575+20C=
Xg.53382486G>TCA641906884SMC1Ac.3285+20C>A (n.3285+20C>A)
c.2517+20C>A (n.2517+20C>A)
c.3219+20C>A (n.3219+20C>A)
n.141+20C>A
c.575+20C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53382487G>CCA641906885SMC1Ac.3285+19C>G (n.3285+19C>G)
c.2517+19C>G (n.2517+19C>G)
c.3219+19C>G (n.3219+19C>G)
n.141+19C>G
c.575+19C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53382487G=CA2429817463SMC1Ac.3285+19C= (n.3285+19C=)
c.2517+19C= (n.2517+19C=)
c.3219+19C= (n.3219+19C=)
n.141+19C=
c.575+19C=
Xg.53382488T>CCA641906886SMC1Ac.3285+18A>G (n.3285+18A>G)
c.2517+18A>G (n.2517+18A>G)
c.3219+18A>G (n.3219+18A>G)
n.141+18A>G
c.575+18A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53382488T>GCA2693803829SMC1Ac.3285+18A>C (n.3285+18A>C)
c.2517+18A>C (n.2517+18A>C)
c.3219+18A>C (n.3219+18A>C)
n.141+18A>C
c.575+18A>C
 gnomAD v4
Xg.53382488T=CA2429817464SMC1Ac.3285+18A= (n.3285+18A=)
c.2517+18A= (n.2517+18A=)
c.3219+18A= (n.3219+18A=)
n.141+18A=
c.575+18A=
Xg.53382490A>GCA2693803830SMC1Ac.3285+16T>C (n.3285+16T>C)
c.2517+16T>C (n.2517+16T>C)
c.3219+16T>C (n.3219+16T>C)
n.141+16T>C
c.575+16T>C
 gnomAD v4
Xg.53382492G=CA2429817465SMC1Ac.3285+14C= (n.3285+14C=)
c.2517+14C= (n.2517+14C=)
c.3219+14C= (n.3219+14C=)
n.141+14C=
c.575+14C=
Xg.53382492G>TCA641906887SMC1Ac.3285+14C>A (n.3285+14C>A)
c.2517+14C>A (n.2517+14C>A)
c.3219+14C>A (n.3219+14C>A)
n.141+14C>A
c.575+14C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53382493G>ACA2820953865SMC1Ac.3285+13C>T (n.3285+13C>T)
c.2517+13C>T (n.2517+13C>T)
c.3219+13C>T (n.3219+13C>T)
n.141+13C>T
c.575+13C>T
Xg.53382493G>CCA641906888SMC1Ac.3285+13C>G (n.3285+13C>G)
c.2517+13C>G (n.2517+13C>G)
c.3219+13C>G (n.3219+13C>G)
n.141+13C>G
c.575+13C>G
 dbSNP gnomAD v2
Xg.53382493G=CA2429817466SMC1Ac.3285+13C= (n.3285+13C=)
c.2517+13C= (n.2517+13C=)
c.3219+13C= (n.3219+13C=)
n.141+13C=
c.575+13C=
Xg.53382494G>ACA2505995880SMC1Ac.3285+12C>T (n.3285+12C>T)
c.2517+12C>T (n.2517+12C>T)
c.3219+12C>T (n.3219+12C>T)
n.141+12C>T
c.575+12C>T
Xg.53382495C>ACA2540298588SMC1Ac.3285+11G>T (n.3285+11G>T)
c.2517+11G>T (n.2517+11G>T)
c.3219+11G>T (n.3219+11G>T)
n.141+11G>T
c.575+11G>T
Xg.53382498C>TCA2693803831SMC1Ac.3285+8G>A (n.3285+8G>A)
c.2517+8G>A (n.2517+8G>A)
c.3219+8G>A (n.3219+8G>A)
n.141+8G>A
c.575+8G>A
 gnomAD v4
Xg.53382499delCA2693803832SMC1Ac.3285+7del (n.3285+7del)
c.2517+7del (n.2517+7del)
c.3219+7del (n.3219+7del)
n.141+7del
c.575+7del
 gnomAD v4
Xg.53382500G>ACA2429817468SMC1Ac.3285+6C>T (n.3285+6C>T)
c.2517+6C>T (n.2517+6C>T)
c.3219+6C>T (n.3219+6C>T)
n.141+6C>T
c.575+6C>T
 dbSNP
Xg.53382500G=CA2429817467SMC1Ac.3285+6C= (n.3285+6C=)
c.2517+6C= (n.2517+6C=)
c.3219+6C= (n.3219+6C=)
n.141+6C=
c.575+6C=
Xg.53382502C=CA2429817469SMC1Ac.3285+4G= (n.3285+4G=)
c.2517+4G= (n.2517+4G=)
c.3219+4G= (n.3219+4G=)
n.141+4G=
c.575+4G=
Xg.53382502C>TCA641906889SMC1Ac.3285+4G>A (n.3285+4G>A)
c.2517+4G>A (n.2517+4G>A)
c.3219+4G>A (n.3219+4G>A)
n.141+4G>A
c.575+4G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382504A>CCA413243703SMC1Ac.3285+2T>G (n.3285+2T>G)
c.2517+2T>G (n.2517+2T>G)
c.3219+2T>G (n.3219+2T>G)
n.141+2T>G
c.575+2T>G
Xg.53382504A>GCA413243705SMC1Ac.3285+2T>C (n.3285+2T>C)
c.2517+2T>C (n.2517+2T>C)
c.3219+2T>C (n.3219+2T>C)
n.141+2T>C
c.575+2T>C
Xg.53382504A>TCA413243707SMC1Ac.3285+2T>A (n.3285+2T>A)
c.2517+2T>A (n.2517+2T>A)
c.3219+2T>A (n.3219+2T>A)
n.141+2T>A
c.575+2T>A
Xg.53382505C>ACA413243710SMC1Ac.3285+1G>T (n.3285+1G>T)
c.2517+1G>T (n.2517+1G>T)
c.3219+1G>T (n.3219+1G>T)
n.141+1G>T
c.575+1G>T
Xg.53382505C>GCA413243712SMC1Ac.3285+1G>C (n.3285+1G>C)
c.2517+1G>C (n.2517+1G>C)
c.3219+1G>C (n.3219+1G>C)
n.141+1G>C
c.575+1G>C
Xg.53382505C>TCA413243713SMC1Ac.3285+1G>A (n.3285+1G>A)
c.2517+1G>A (n.2517+1G>A)
c.3219+1G>A (n.3219+1G>A)
n.141+1G>A
c.575+1G>A
Xg.53382506C>ACA413243716SMC1Ac.3285G>T (p.Gln1095His)
c.2517G>T (p.Gln839His)
c.3219G>T (p.Gln1073His)
n.141G>T
c.575G>T
Xg.53382506C>GCA413243718SMC1Ac.3285G>C (p.Gln1095His)
c.2517G>C (p.Gln839His)
c.3219G>C (p.Gln1073His)
n.141G>C
c.575G>C
Xg.53382506C>TCA516688511SMC1Ac.3285G>A (p.Gln1095=)
c.2517G>A (p.Gln839=)
c.3219G>A (p.Gln1073=)
n.141G>A
c.575G>A
Xg.53382507T>ACA413243719SMC1Ac.3284A>T (p.Gln1095Leu)
c.2516A>T (p.Gln839Leu)
c.3218A>T (p.Gln1073Leu)
n.140A>T
c.574A>T
Xg.53382507T>CCA413243728SMC1Ac.3284A>G (p.Gln1095Arg)
c.2516A>G (p.Gln839Arg)
c.3218A>G (p.Gln1073Arg)
n.140A>G
c.574A>G
Xg.53382507T>GCA413243730SMC1Ac.3284A>C (p.Gln1095Pro)
c.2516A>C (p.Gln839Pro)
c.3218A>C (p.Gln1073Pro)
n.140A>C
c.574A>C
Xg.53382508G>ACA413243733SMC1Ac.3283C>T (p.Gln1095Ter)
c.2515C>T (p.Gln839Ter)
c.3217C>T (p.Gln1073Ter)
n.139C>T
c.573C>T
 ClinVar
Xg.53382508G>CCA413243734SMC1Ac.3283C>G (p.Gln1095Glu)
c.2515C>G (p.Gln839Glu)
c.3217C>G (p.Gln1073Glu)
n.139C>G
c.573C>G
Xg.53382508G>TCA413243736SMC1Ac.3283C>A (p.Gln1095Lys)
c.2515C>A (p.Gln839Lys)
c.3217C>A (p.Gln1073Lys)
n.139C>A
c.573C>A
Xg.53382509G>ACA516688512SMC1Ac.3282C>T (p.Ala1094=)
c.2514C>T (p.Ala838=)
c.3216C>T (p.Ala1072=)
n.138C>T
c.572C>T
Xg.53382509G>CCA516688513SMC1Ac.3282C>G (p.Ala1094=)
c.2514C>G (p.Ala838=)
c.3216C>G (p.Ala1072=)
n.138C>G
c.572C>G
Xg.53382509G>TCA516688514SMC1Ac.3282C>A (p.Ala1094=)
c.2514C>A (p.Ala838=)
c.3216C>A (p.Ala1072=)
n.138C>A
c.572C>A
Xg.53382510G>ACA413243741SMC1Ac.3281C>T (p.Ala1094Val)
c.2513C>T (p.Ala838Val)
c.3215C>T (p.Ala1072Val)
n.137C>T
c.571C>T
Xg.53382510G>CCA413243737SMC1Ac.3281C>G (p.Ala1094Gly)
c.2513C>G (p.Ala838Gly)
c.3215C>G (p.Ala1072Gly)
n.137C>G
c.571C>G
Xg.53382510G>TCA413243739SMC1Ac.3281C>A (p.Ala1094Asp)
c.2513C>A (p.Ala838Asp)
c.3215C>A (p.Ala1072Asp)
n.137C>A
c.571C>A
Xg.53382511C>ACA413243742SMC1Ac.3280G>T (p.Ala1094Ser)
c.2512G>T (p.Ala838Ser)
c.3214G>T (p.Ala1072Ser)
n.136G>T
c.570G>T
Xg.53382511C>GCA413243743SMC1Ac.3280G>C (p.Ala1094Pro)
c.2512G>C (p.Ala838Pro)
c.3214G>C (p.Ala1072Pro)
n.136G>C
c.570G>C
Xg.53382511C>TCA413243745SMC1Ac.3280G>A (p.Ala1094Thr)
c.2512G>A (p.Ala838Thr)
c.3214G>A (p.Ala1072Thr)
n.136G>A
c.570G>A
 ClinVar
Xg.53382512A>CCA413243751SMC1Ac.3279T>G (p.Ser1093Arg)
c.2511T>G (p.Ser837Arg)
c.3213T>G (p.Ser1071Arg)
n.135T>G
c.569T>G
Xg.53382512A>GCA516688515SMC1Ac.3279T>C (p.Ser1093=)
c.2511T>C (p.Ser837=)
c.3213T>C (p.Ser1071=)
n.135T>C
c.569T>C
Xg.53382512A>TCA413243752SMC1Ac.3279T>A (p.Ser1093Arg)
c.2511T>A (p.Ser837Arg)
c.3213T>A (p.Ser1071Arg)
n.135T>A
c.569T>A
Xg.53382513C>ACA413243755SMC1Ac.3278G>T (p.Ser1093Ile)
c.2510G>T (p.Ser837Ile)
c.3212G>T (p.Ser1071Ile)
n.134G>T
c.568G>T
Xg.53382513C>GCA413243759SMC1Ac.3278G>C (p.Ser1093Thr)
c.2510G>C (p.Ser837Thr)
c.3212G>C (p.Ser1071Thr)
n.134G>C
c.568G>C
Xg.53382513C>TCA413243757SMC1Ac.3278G>A (p.Ser1093Asn)
c.2510G>A (p.Ser837Asn)
c.3212G>A (p.Ser1071Asn)
n.134G>A
c.568G>A
Xg.53382514T>ACA413243761SMC1Ac.3277A>T (p.Ser1093Cys)
c.2509A>T (p.Ser837Cys)
c.3211A>T (p.Ser1071Cys)
n.133A>T
c.567A>T
Xg.53382514T>CCA413243762SMC1Ac.3277A>G (p.Ser1093Gly)
c.2509A>G (p.Ser837Gly)
c.3211A>G (p.Ser1071Gly)
n.133A>G
c.567A>G
Xg.53382514T>GCA413243763SMC1Ac.3277A>C (p.Ser1093Arg)
c.2509A>C (p.Ser837Arg)
c.3211A>C (p.Ser1071Arg)
n.133A>C
c.567A>C
Xg.53382515G>ACA516688516SMC1Ac.3276C>T (p.Ser1092=)
c.2508C>T (p.Ser836=)
c.3210C>T (p.Ser1070=)
n.132C>T
c.566C>T
 gnomAD v4
Xg.53382515G>CCA413243769SMC1Ac.3276C>G (p.Ser1092Arg)
c.2508C>G (p.Ser836Arg)
c.3210C>G (p.Ser1070Arg)
n.132C>G
c.566C>G
Xg.53382515G>TCA413243771SMC1Ac.3276C>A (p.Ser1092Arg)
c.2508C>A (p.Ser836Arg)
c.3210C>A (p.Ser1070Arg)
n.132C>A
c.566C>A
Xg.53382516C>ACA413243775SMC1Ac.3275G>T (p.Ser1092Ile)
c.2507G>T (p.Ser836Ile)
c.3209G>T (p.Ser1070Ile)
n.131G>T
c.565G>T
 gnomAD v4
Xg.53382516C>GCA413243777SMC1Ac.3275G>C (p.Ser1092Thr)
c.2507G>C (p.Ser836Thr)
c.3209G>C (p.Ser1070Thr)
n.131G>C
c.565G>C
Xg.53382516C>TCA413243788SMC1Ac.3275G>A (p.Ser1092Asn)
c.2507G>A (p.Ser836Asn)
c.3209G>A (p.Ser1070Asn)
n.131G>A
c.565G>A
Xg.53382517T>ACA413243794SMC1Ac.3274A>T (p.Ser1092Cys)
c.2506A>T (p.Ser836Cys)
c.3208A>T (p.Ser1070Cys)
n.130A>T
c.564A>T
Xg.53382517T>CCA413243797SMC1Ac.3274A>G (p.Ser1092Gly)
c.2506A>G (p.Ser836Gly)
c.3208A>G (p.Ser1070Gly)
n.130A>G
c.564A>G
Xg.53382517T>GCA413243809SMC1Ac.3274A>C (p.Ser1092Arg)
c.2506A>C (p.Ser836Arg)
c.3208A>C (p.Ser1070Arg)
n.130A>C
c.564A>C
Xg.53382517T=CA2429817470SMC1Ac.3274A= (p.Ser1092=)
c.2506A= (p.Ser836=)
c.3208A= (p.Ser1070=)
n.130A=
c.564A=
Xg.53382517_53382518insCCA920412762SMC1Ac.3273_3274insG (p.Ser1092GlufsTer10)
c.2505_2506insG (p.Ser836GlufsTer10)
c.3207_3208insG (p.Ser1070GlufsTer10)
n.129_130insG
c.563_564insG
 dbSNP
Xg.53382518A=CA2429817471SMC1Ac.3273T= (p.Asn1091=)
c.2505T= (p.Asn835=)
c.3207T= (p.Asn1069=)
n.129T=
c.563T=
Xg.53382518A>CCA413243813SMC1Ac.3273T>G (p.Asn1091Lys)
c.2505T>G (p.Asn835Lys)
c.3207T>G (p.Asn1069Lys)
n.129T>G
c.563T>G
Xg.53382518A>GCA516688517SMC1Ac.3273T>C (p.Asn1091=)
c.2505T>C (p.Asn835=)
c.3207T>C (p.Asn1069=)
n.129T>C
c.563T>C
Xg.53382518A>TCA413243811SMC1Ac.3273T>A (p.Asn1091Lys)
c.2505T>A (p.Asn835Lys)
c.3207T>A (p.Asn1069Lys)
n.129T>A
c.563T>A
 dbSNP
Xg.53382519T>ACA413243815SMC1Ac.3272A>T (p.Asn1091Ile)
c.2504A>T (p.Asn835Ile)
c.3206A>T (p.Asn1069Ile)
n.128A>T
c.562A>T
Xg.53382519T>CCA413243827SMC1Ac.3272A>G (p.Asn1091Ser)
c.2504A>G (p.Asn835Ser)
c.3206A>G (p.Asn1069Ser)
n.128A>G
c.562A>G
Xg.53382519T>GCA413243817SMC1Ac.3272A>C (p.Asn1091Thr)
c.2504A>C (p.Asn835Thr)
c.3206A>C (p.Asn1069Thr)
n.128A>C
c.562A>C
Xg.53382520T>ACA413243830SMC1Ac.3271A>T (p.Asn1091Tyr)
c.2503A>T (p.Asn835Tyr)
c.3205A>T (p.Asn1069Tyr)
n.127A>T
c.561A>T
Xg.53382520T>CCA413243832SMC1Ac.3271A>G (p.Asn1091Asp)
c.2503A>G (p.Asn835Asp)
c.3205A>G (p.Asn1069Asp)
n.127A>G
c.561A>G
Xg.53382520T>GCA413243834SMC1Ac.3271A>C (p.Asn1091His)
c.2503A>C (p.Asn835His)
c.3205A>C (p.Asn1069His)
n.127A>C
c.561A>C
Xg.53382521G>ACA516688518SMC1Ac.3270C>T (p.Arg1090=)
c.2502C>T (p.Arg834=)
c.3204C>T (p.Arg1068=)
n.126C>T
c.560C>T
 COSMIC
Xg.53382521G>CCA516688520SMC1Ac.3270C>G (p.Arg1090=)
c.2502C>G (p.Arg834=)
c.3204C>G (p.Arg1068=)
n.126C>G
c.560C>G
Xg.53382521G>TCA516688519SMC1Ac.3270C>A (p.Arg1090=)
c.2502C>A (p.Arg834=)
c.3204C>A (p.Arg1068=)
n.126C>A
c.560C>A
Xg.53382522C>ACA413243838SMC1Ac.3269G>T (p.Arg1090Leu)
c.2501G>T (p.Arg834Leu)
c.3203G>T (p.Arg1068Leu)
n.125G>T
c.559G>T
 gnomAD v4
Xg.53382522C=CA2429817472SMC1Ac.3269G= (p.Arg1090=)
c.2501G= (p.Arg834=)
c.3203G= (p.Arg1068=)
n.125G=
c.559G=
Xg.53382522C>GCA413243840SMC1Ac.3269G>C (p.Arg1090Pro)
c.2501G>C (p.Arg834Pro)
c.3203G>C (p.Arg1068Pro)
n.125G>C
c.559G>C
Xg.53382522C>TCA329906128SMC1Ac.3269G>A (p.Arg1090His)
c.2501G>A (p.Arg834His)
c.3203G>A (p.Arg1068His)
n.125G>A
c.559G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53382523G>ACA413243853SMC1Ac.3268C>T (p.Arg1090Cys)
c.2500C>T (p.Arg834Cys)
c.3202C>T (p.Arg1068Cys)
n.124C>T
c.558C>T
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.53382523G>CCA413243855SMC1Ac.3268C>G (p.Arg1090Gly)
c.2500C>G (p.Arg834Gly)
c.3202C>G (p.Arg1068Gly)
n.124C>G
c.558C>G
Xg.53382523G>TCA413243858SMC1Ac.3268C>A (p.Arg1090Ser)
c.2500C>A (p.Arg834Ser)
c.3202C>A (p.Arg1068Ser)
n.124C>A
c.558C>A
Xg.53382524G>ACA516688521SMC1Ac.3267C>T (p.Ser1089=)
c.2499C>T (p.Ser833=)
c.3201C>T (p.Ser1067=)
n.123C>T
c.557C>T
Xg.53382524G>CCA10420313SMC1Ac.3267C>G (p.Ser1089=)
c.2499C>G (p.Ser833=)
c.3201C>G (p.Ser1067=)
n.123C>G
c.557C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382524G=CA2429817473SMC1Ac.3267C= (p.Ser1089=)
c.2499C= (p.Ser833=)
c.3201C= (p.Ser1067=)
n.123C=
c.557C=
Xg.53382524G>TCA516688522SMC1Ac.3267C>A (p.Ser1089=)
c.2499C>A (p.Ser833=)
c.3201C>A (p.Ser1067=)
n.123C>A
c.557C>A
Xg.53382525G>ACA413243859SMC1Ac.3266C>T (p.Ser1089Phe)
c.2498C>T (p.Ser833Phe)
c.3200C>T (p.Ser1067Phe)
n.122C>T
c.556C>T
Xg.53382525G>CCA413243861SMC1Ac.3266C>G (p.Ser1089Cys)
c.2498C>G (p.Ser833Cys)
c.3200C>G (p.Ser1067Cys)
n.122C>G
c.556C>G
Xg.53382525G>TCA413243862SMC1Ac.3266C>A (p.Ser1089Tyr)
c.2498C>A (p.Ser833Tyr)
c.3200C>A (p.Ser1067Tyr)
n.122C>A
c.556C>A
Xg.53382526A>CCA413243864SMC1Ac.3265T>G (p.Ser1089Ala)
c.2497T>G (p.Ser833Ala)
c.3199T>G (p.Ser1067Ala)
n.121T>G
c.555T>G
Xg.53382526A>GCA413243874SMC1Ac.3265T>C (p.Ser1089Pro)
c.2497T>C (p.Ser833Pro)
c.3199T>C (p.Ser1067Pro)
n.121T>C
c.555T>C
Xg.53382526A>TCA413243871SMC1Ac.3265T>A (p.Ser1089Thr)
c.2497T>A (p.Ser833Thr)
c.3199T>A (p.Ser1067Thr)
n.121T>A
c.555T>A
Xg.53382527C>ACA516688523SMC1Ac.3264G>T (p.Leu1088=)
c.2496G>T (p.Leu832=)
c.3198G>T (p.Leu1066=)
n.120G>T
c.554G>T
 COSMIC
Xg.53382527C>GCA516688524SMC1Ac.3264G>C (p.Leu1088=)
c.2496G>C (p.Leu832=)
c.3198G>C (p.Leu1066=)
n.120G>C
c.554G>C
Xg.53382527C>TCA516688525SMC1Ac.3264G>A (p.Leu1088=)
c.2496G>A (p.Leu832=)
c.3198G>A (p.Leu1066=)
n.120G>A
c.554G>A
Xg.53382528A>CCA413243876SMC1Ac.3263T>G (p.Leu1088Arg)
c.2495T>G (p.Leu832Arg)
c.3197T>G (p.Leu1066Arg)
n.119T>G
c.553T>G
Xg.53382528A>GCA413243878SMC1Ac.3263T>C (p.Leu1088Pro)
c.2495T>C (p.Leu832Pro)
c.3197T>C (p.Leu1066Pro)
n.119T>C
c.553T>C
 COSMIC
Xg.53382528A>TCA413243879SMC1Ac.3263T>A (p.Leu1088Gln)
c.2495T>A (p.Leu832Gln)
c.3197T>A (p.Leu1066Gln)
n.119T>A
c.553T>A
Xg.53382529G>ACA516688526SMC1Ac.3262C>T (p.Leu1088=)
c.2494C>T (p.Leu832=)
c.3196C>T (p.Leu1066=)
n.118C>T
c.552C>T
Xg.53382529G>CCA413243881SMC1Ac.3262C>G (p.Leu1088Val)
c.2494C>G (p.Leu832Val)
c.3196C>G (p.Leu1066Val)
n.118C>G
c.552C>G
Xg.53382529G>TCA413243887SMC1Ac.3262C>A (p.Leu1088Met)
c.2494C>A (p.Leu832Met)
c.3196C>A (p.Leu1066Met)
n.118C>A
c.552C>A
Xg.53382530G>ACA516688529SMC1Ac.3261C>T (p.Ala1087=)
c.2493C>T (p.Ala831=)
c.3195C>T (p.Ala1065=)
n.117C>T
c.551C>T
Xg.53382530G>CCA516688527SMC1Ac.3261C>G (p.Ala1087=)
c.2493C>G (p.Ala831=)
c.3195C>G (p.Ala1065=)
n.117C>G
c.551C>G
Xg.53382530G>TCA516688528SMC1Ac.3261C>A (p.Ala1087=)
c.2493C>A (p.Ala831=)
c.3195C>A (p.Ala1065=)
n.117C>A
c.551C>A
Xg.53382531G>ACA413243890SMC1Ac.3260C>T (p.Ala1087Val)
c.2492C>T (p.Ala831Val)
c.3194C>T (p.Ala1065Val)
n.116C>T
c.550C>T
Xg.53382531G>CCA413243893SMC1Ac.3260C>G (p.Ala1087Gly)
c.2492C>G (p.Ala831Gly)
c.3194C>G (p.Ala1065Gly)
n.116C>G
c.550C>G
Xg.53382531G>TCA413243896SMC1Ac.3260C>A (p.Ala1087Asp)
c.2492C>A (p.Ala831Asp)
c.3194C>A (p.Ala1065Asp)
n.116C>A
c.550C>A
Xg.53382532C>ACA329906129SMC1Ac.3259G>T (p.Ala1087Ser)
c.2491G>T (p.Ala831Ser)
c.3193G>T (p.Ala1065Ser)
n.115G>T
c.549G>T
 dbSNP
Xg.53382532C=CA2429817474SMC1Ac.3259G= (p.Ala1087=)
c.2491G= (p.Ala831=)
c.3193G= (p.Ala1065=)
n.115G=
c.549G=
Xg.53382532C>GCA413243899SMC1Ac.3259G>C (p.Ala1087Pro)
c.2491G>C (p.Ala831Pro)
c.3193G>C (p.Ala1065Pro)
n.115G>C
c.549G>C
Xg.53382532C>TCA413243900SMC1Ac.3259G>A (p.Ala1087Thr)
c.2491G>A (p.Ala831Thr)
c.3193G>A (p.Ala1065Thr)
n.115G>A
c.549G>A
Xg.53382533C>ACA413243904SMC1Ac.3258G>T (p.Lys1086Asn)
c.2490G>T (p.Lys830Asn)
c.3192G>T (p.Lys1064Asn)
n.114G>T
c.548G>T
Xg.53382533C>GCA413243902SMC1Ac.3258G>C (p.Lys1086Asn)
c.2490G>C (p.Lys830Asn)
c.3192G>C (p.Lys1064Asn)
n.114G>C
c.548G>C
Xg.53382533C>TCA516688530SMC1Ac.3258G>A (p.Lys1086=)
c.2490G>A (p.Lys830=)
c.3192G>A (p.Lys1064=)
n.114G>A
c.548G>A
Xg.53382534T>ACA413243906SMC1Ac.3257A>T (p.Lys1086Met)
c.2489A>T (p.Lys830Met)
c.3191A>T (p.Lys1064Met)
n.113A>T
c.547A>T
 COSMIC
Xg.53382534T>CCA413243908SMC1Ac.3257A>G (p.Lys1086Arg)
c.2489A>G (p.Lys830Arg)
c.3191A>G (p.Lys1064Arg)
n.113A>G
c.547A>G
Xg.53382534T>GCA413243910SMC1Ac.3257A>C (p.Lys1086Thr)
c.2489A>C (p.Lys830Thr)
c.3191A>C (p.Lys1064Thr)
n.113A>C
c.547A>C
Xg.53382535T>ACA413243911SMC1Ac.3256A>T (p.Lys1086Ter)
c.2488A>T (p.Lys830Ter)
c.3190A>T (p.Lys1064Ter)
n.112A>T
c.546A>T
Xg.53382535T>CCA413243912SMC1Ac.3256A>G (p.Lys1086Glu)
c.2488A>G (p.Lys830Glu)
c.3190A>G (p.Lys1064Glu)
n.112A>G
c.546A>G
Xg.53382535T>GCA413243913SMC1Ac.3256A>C (p.Lys1086Gln)
c.2488A>C (p.Lys830Gln)
c.3190A>C (p.Lys1064Gln)
n.112A>C
c.546A>C
Xg.53382536A>CCA413243915SMC1Ac.3255T>G (p.Tyr1085Ter)
c.2487T>G (p.Tyr829Ter)
c.3189T>G (p.Tyr1063Ter)
n.111T>G
c.545T>G
Xg.53382536A>GCA516688531SMC1Ac.3255T>C (p.Tyr1085=)
c.2487T>C (p.Tyr829=)
c.3189T>C (p.Tyr1063=)
n.111T>C
c.545T>C
Xg.53382536A>TCA413243924SMC1Ac.3255T>A (p.Tyr1085Ter)
c.2487T>A (p.Tyr829Ter)
c.3189T>A (p.Tyr1063Ter)
n.111T>A
c.545T>A
 ClinVar
Xg.53382537T>ACA413243927SMC1Ac.3254A>T (p.Tyr1085Phe)
c.2486A>T (p.Tyr829Phe)
c.3188A>T (p.Tyr1063Phe)
n.110A>T
c.544A>T
Xg.53382537T>CCA272574SMC1Ac.3254A>G (p.Tyr1085Cys)
c.2486A>G (p.Tyr829Cys)
c.3188A>G (p.Tyr1063Cys)
n.110A>G
c.544A>G
 ClinVar dbSNP
Xg.53382537T>GCA413243952SMC1Ac.3254A>C (p.Tyr1085Ser)
c.2486A>C (p.Tyr829Ser)
c.3188A>C (p.Tyr1063Ser)
n.110A>C
c.544A>C
Xg.53382537T=CA2429817475SMC1Ac.3254A= (p.Tyr1085=)
c.2486A= (p.Tyr829=)
c.3188A= (p.Tyr1063=)
n.110A=
c.544A=
Xg.53382538A>CCA413243957SMC1Ac.3253T>G (p.Tyr1085Asp)
c.2485T>G (p.Tyr829Asp)
c.3187T>G (p.Tyr1063Asp)
n.109T>G
c.543T>G
Xg.53382538A>GCA413243958SMC1Ac.3253T>C (p.Tyr1085His)
c.2485T>C (p.Tyr829His)
c.3187T>C (p.Tyr1063His)
n.109T>C
c.543T>C
Xg.53382538A>TCA413243960SMC1Ac.3253T>A (p.Tyr1085Asn)
c.2485T>A (p.Tyr829Asn)
c.3187T>A (p.Tyr1063Asn)
n.109T>A
c.543T>A
Xg.53382539G>ACA272569SMC1Ac.3252C>T (p.Ile1084=)
c.2484C>T (p.Ile828=)
c.3186C>T (p.Ile1062=)
n.108C>T
c.542C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382539G>CCA413243961SMC1Ac.3252C>G (p.Ile1084Met)
c.2484C>G (p.Ile828Met)
c.3186C>G (p.Ile1062Met)
n.108C>G
c.542C>G
 ClinVar dbSNP
Xg.53382539G=CA2429817476SMC1Ac.3252C= (p.Ile1084=)
c.2484C= (p.Ile828=)
c.3186C= (p.Ile1062=)
n.108C=
c.542C=
Xg.53382539G>TCA516688532SMC1Ac.3252C>A (p.Ile1084=)
c.2484C>A (p.Ile828=)
c.3186C>A (p.Ile1062=)
n.108C>A
c.542C>A
Xg.53382540A=CA2429817477SMC1Ac.3251T= (p.Ile1084=)
c.2483T= (p.Ile828=)
c.3185T= (p.Ile1062=)
n.107T=
c.541T=
Xg.53382540A>CCA413243962SMC1Ac.3251T>G (p.Ile1084Ser)
c.2483T>G (p.Ile828Ser)
c.3185T>G (p.Ile1062Ser)
n.107T>G
c.541T>G
Xg.53382540A>GCA413243963SMC1Ac.3251T>C (p.Ile1084Thr)
c.2483T>C (p.Ile828Thr)
c.3185T>C (p.Ile1062Thr)
n.107T>C
c.541T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.53382540A>TCA413243965SMC1Ac.3251T>A (p.Ile1084Asn)
c.2483T>A (p.Ile828Asn)
c.3185T>A (p.Ile1062Asn)
n.107T>A
c.541T>A
Xg.53382541T>ACA413243968SMC1Ac.3250A>T (p.Ile1084Phe)
c.2482A>T (p.Ile828Phe)
c.3184A>T (p.Ile1062Phe)
n.106A>T
c.540A>T
Xg.53382541T>CCA413243972SMC1Ac.3250A>G (p.Ile1084Val)
c.2482A>G (p.Ile828Val)
c.3184A>G (p.Ile1062Val)
n.106A>G
c.540A>G
 gnomAD v4
Xg.53382541T>GCA413243975SMC1Ac.3250A>C (p.Ile1084Leu)
c.2482A>C (p.Ile828Leu)
c.3184A>C (p.Ile1062Leu)
n.106A>C
c.540A>C
 gnomAD v4
Xg.53382541T=CA2429817478SMC1Ac.3250A= (p.Ile1084=)
c.2482A= (p.Ile828=)
c.3184A= (p.Ile1062=)
n.106A=
c.540A=
Xg.53382542C>ACA413243982SMC1Ac.3249G>T (p.Glu1083Asp)
c.2481G>T (p.Glu827Asp)
c.3183G>T (p.Glu1061Asp)
n.105G>T
c.539G>T
Xg.53382542C>GCA413243987SMC1Ac.3249G>C (p.Glu1083Asp)
c.2481G>C (p.Glu827Asp)
c.3183G>C (p.Glu1061Asp)
n.105G>C
c.539G>C
Xg.53382542C>TCA516688533SMC1Ac.3249G>A (p.Glu1083=)
c.2481G>A (p.Glu827=)
c.3183G>A (p.Glu1061=)
n.105G>A
c.539G>A
 ClinVar
Xg.53382542dupCA916082488SMC1Ac.3249dup (p.Ile1084AspfsTer3)
c.2481dup (p.Ile828AspfsTer3)
c.3183dup (p.Ile1062AspfsTer3)
n.105dup
c.539dup
 ClinVar dbSNP
Xg.53382543T>ACA413243989SMC1Ac.3248A>T (p.Glu1083Val)
c.2480A>T (p.Glu827Val)
c.3182A>T (p.Glu1061Val)
n.104A>T
c.538A>T
Xg.53382543T>CCA413243991SMC1Ac.3248A>G (p.Glu1083Gly)
c.2480A>G (p.Glu827Gly)
c.3182A>G (p.Glu1061Gly)
n.104A>G
c.538A>G
 COSMIC
Xg.53382543T>GCA413243993SMC1Ac.3248A>C (p.Glu1083Ala)
c.2480A>C (p.Glu827Ala)
c.3182A>C (p.Glu1061Ala)
n.104A>C
c.538A>C
Xg.53382544C>ACA413243996SMC1Ac.3247G>T (p.Glu1083Ter)
c.2479G>T (p.Glu827Ter)
c.3181G>T (p.Glu1061Ter)
n.103G>T
c.537G>T
Xg.53382544C=CA2429817479SMC1Ac.3247G= (p.Glu1083=)
c.2479G= (p.Glu827=)
c.3181G= (p.Glu1061=)
n.103G=
c.537G=
Xg.53382544C>GCA413244005SMC1Ac.3247G>C (p.Glu1083Gln)
c.2479G>C (p.Glu827Gln)
c.3181G>C (p.Glu1061Gln)
n.103G>C
c.537G>C
Xg.53382544C>TCA413244008SMC1Ac.3247G>A (p.Glu1083Lys)
c.2479G>A (p.Glu827Lys)
c.3181G>A (p.Glu1061Lys)
n.103G>A
c.537G>A
 dbSNP COSMIC
Xg.53382545A=CA2429817480SMC1Ac.3246T= (p.Asp1082=)
c.2478T= (p.Asp826=)
c.3180T= (p.Asp1060=)
n.102T=
c.536T=
Xg.53382545A>CCA413244010SMC1Ac.3246T>G (p.Asp1082Glu)
c.2478T>G (p.Asp826Glu)
c.3180T>G (p.Asp1060Glu)
n.102T>G
c.536T>G
 gnomAD v4
Xg.53382545A>GCA516688534SMC1Ac.3246T>C (p.Asp1082=)
c.2478T>C (p.Asp826=)
c.3180T>C (p.Asp1060=)
n.102T>C
c.536T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382545A>TCA413244009SMC1Ac.3246T>A (p.Asp1082Glu)
c.2478T>A (p.Asp826Glu)
c.3180T>A (p.Asp1060Glu)
n.102T>A
c.536T>A
Xg.53382546T>ACA413244011SMC1Ac.3245A>T (p.Asp1082Val)
c.2477A>T (p.Asp826Val)
c.3179A>T (p.Asp1060Val)
n.101A>T
c.535A>T
Xg.53382546T>CCA413244016SMC1Ac.3245A>G (p.Asp1082Gly)
c.2477A>G (p.Asp826Gly)
c.3179A>G (p.Asp1060Gly)
n.101A>G
c.535A>G
Xg.53382546T>GCA413244019SMC1Ac.3245A>C (p.Asp1082Ala)
c.2477A>C (p.Asp826Ala)
c.3179A>C (p.Asp1060Ala)
n.101A>C
c.535A>C
Xg.53382547C>ACA413244024SMC1Ac.3244G>T (p.Asp1082Tyr)
c.2476G>T (p.Asp826Tyr)
c.3178G>T (p.Asp1060Tyr)
n.100G>T
c.534G>T
Xg.53382547C>GCA413244027SMC1Ac.3244G>C (p.Asp1082His)
c.2476G>C (p.Asp826His)
c.3178G>C (p.Asp1060His)
n.100G>C
c.534G>C
Xg.53382547C>TCA413244028SMC1Ac.3244G>A (p.Asp1082Asn)
c.2476G>A (p.Asp826Asn)
c.3178G>A (p.Asp1060Asn)
n.100G>A
c.534G>A
Xg.53382548A>CCA413244030SMC1Ac.3243T>G (p.Ile1081Met)
c.2475T>G (p.Ile825Met)
c.3177T>G (p.Ile1059Met)
n.99T>G
c.533T>G
Xg.53382548A>GCA516688535SMC1Ac.3243T>C (p.Ile1081=)
c.2475T>C (p.Ile825=)
c.3177T>C (p.Ile1059=)
n.99T>C
c.533T>C
Xg.53382548A>TCA516688536SMC1Ac.3243T>A (p.Ile1081=)
c.2475T>A (p.Ile825=)
c.3177T>A (p.Ile1059=)
n.99T>A
c.533T>A
Xg.53382549A>CCA413244033SMC1Ac.3242T>G (p.Ile1081Ser)
c.2474T>G (p.Ile825Ser)
c.3176T>G (p.Ile1059Ser)
n.98T>G
c.532T>G
Xg.53382549A>GCA413244031SMC1Ac.3242T>C (p.Ile1081Thr)
c.2474T>C (p.Ile825Thr)
c.3176T>C (p.Ile1059Thr)
n.98T>C
c.532T>C
Xg.53382549A>TCA413244032SMC1Ac.3242T>A (p.Ile1081Asn)
c.2474T>A (p.Ile825Asn)
c.3176T>A (p.Ile1059Asn)
n.98T>A
c.532T>A
Xg.53382550T>ACA413244034SMC1Ac.3241A>T (p.Ile1081Phe)
c.2473A>T (p.Ile825Phe)
c.3175A>T (p.Ile1059Phe)
n.97A>T
c.531A>T
Xg.53382550T>CCA413244036SMC1Ac.3241A>G (p.Ile1081Val)
c.2473A>G (p.Ile825Val)
c.3175A>G (p.Ile1059Val)
n.97A>G
c.531A>G
Xg.53382550T>GCA413244042SMC1Ac.3241A>C (p.Ile1081Leu)
c.2473A>C (p.Ile825Leu)
c.3175A>C (p.Ile1059Leu)
n.97A>C
c.531A>C
Xg.53382551G>ACA516688537SMC1Ac.3240C>T (p.Asn1080=)
c.2472C>T (p.Asn824=)
c.3174C>T (p.Asn1058=)
n.96C>T
c.530C>T
Xg.53382551G>CCA413244044SMC1Ac.3240C>G (p.Asn1080Lys)
c.2472C>G (p.Asn824Lys)
c.3174C>G (p.Asn1058Lys)
n.96C>G
c.530C>G
Xg.53382551G>TCA413244045SMC1Ac.3240C>A (p.Asn1080Lys)
c.2472C>A (p.Asn824Lys)
c.3174C>A (p.Asn1058Lys)
n.96C>A
c.530C>A
Xg.53382552T>ACA413244057SMC1Ac.3239A>T (p.Asn1080Ile)
c.2471A>T (p.Asn824Ile)
c.3173A>T (p.Asn1058Ile)
n.95A>T
c.529A>T
Xg.53382552T>CCA413244049SMC1Ac.3239A>G (p.Asn1080Ser)
c.2471A>G (p.Asn824Ser)
c.3173A>G (p.Asn1058Ser)
n.95A>G
c.529A>G
Xg.53382552T>GCA413244055SMC1Ac.3239A>C (p.Asn1080Thr)
c.2471A>C (p.Asn824Thr)
c.3173A>C (p.Asn1058Thr)
n.95A>C
c.529A>C
Xg.53382553T>ACA413244066SMC1Ac.3238A>T (p.Asn1080Tyr)
c.2470A>T (p.Asn824Tyr)
c.3172A>T (p.Asn1058Tyr)
n.94A>T
c.528A>T
Xg.53382553T>CCA413244068SMC1Ac.3238A>G (p.Asn1080Asp)
c.2470A>G (p.Asn824Asp)
c.3172A>G (p.Asn1058Asp)
n.94A>G
c.528A>G
Xg.53382553T>GCA413244072SMC1Ac.3238A>C (p.Asn1080His)
c.2470A>C (p.Asn824His)
c.3172A>C (p.Asn1058His)
n.94A>C
c.528A>C
Xg.53382554G>ACA516688538SMC1Ac.3237C>T (p.Thr1079=)
c.2469C>T (p.Thr823=)
c.3171C>T (p.Thr1057=)
n.93C>T
c.527C>T
Xg.53382554G>CCA516688539SMC1Ac.3237C>G (p.Thr1079=)
c.2469C>G (p.Thr823=)
c.3171C>G (p.Thr1057=)
n.93C>G
c.527C>G
Xg.53382554G>TCA516688540SMC1Ac.3237C>A (p.Thr1079=)
c.2469C>A (p.Thr823=)
c.3171C>A (p.Thr1057=)
n.93C>A
c.527C>A
Xg.53382555G>ACA413244081SMC1Ac.3236C>T (p.Thr1079Ile)
c.2468C>T (p.Thr823Ile)
c.3170C>T (p.Thr1057Ile)
n.92C>T
c.526C>T
Xg.53382555G>CCA413244083SMC1Ac.3236C>G (p.Thr1079Ser)
c.2468C>G (p.Thr823Ser)
c.3170C>G (p.Thr1057Ser)
n.92C>G
c.526C>G
Xg.53382555G>TCA413244086SMC1Ac.3236C>A (p.Thr1079Asn)
c.2468C>A (p.Thr823Asn)
c.3170C>A (p.Thr1057Asn)
n.92C>A
c.526C>A
Xg.53382556T>ACA413244087SMC1Ac.3235A>T (p.Thr1079Ser)
c.2467A>T (p.Thr823Ser)
c.3169A>T (p.Thr1057Ser)
n.91A>T
c.525A>T
Xg.53382556T>CCA413244088SMC1Ac.3235A>G (p.Thr1079Ala)
c.2467A>G (p.Thr823Ala)
c.3169A>G (p.Thr1057Ala)
n.91A>G
c.525A>G
 ClinVar dbSNP
Xg.53382556T>GCA413244089SMC1Ac.3235A>C (p.Thr1079Pro)
c.2467A>C (p.Thr823Pro)
c.3169A>C (p.Thr1057Pro)
n.91A>C
c.525A>C
Xg.53382556T=CA2429817481SMC1Ac.3235A= (p.Thr1079=)
c.2467A= (p.Thr823=)
c.3169A= (p.Thr1057=)
n.91A=
c.525A=
Xg.53382557A=CA2429817482SMC1Ac.3234T= (p.Ala1078=)
c.2466T= (p.Ala822=)
c.3168T= (p.Ala1056=)
n.90T=
c.524T=
Xg.53382557A>CCA516688541SMC1Ac.3234T>G (p.Ala1078=)
c.2466T>G (p.Ala822=)
c.3168T>G (p.Ala1056=)
n.90T>G
c.524T>G
Xg.53382557A>GCA516688542SMC1Ac.3234T>C (p.Ala1078=)
c.2466T>C (p.Ala822=)
c.3168T>C (p.Ala1056=)
n.90T>C
c.524T>C
 gnomAD v4
Xg.53382557A>TCA10420314SMC1Ac.3234T>A (p.Ala1078=)
c.2466T>A (p.Ala822=)
c.3168T>A (p.Ala1056=)
n.90T>A
c.524T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53382558G>ACA413244092SMC1Ac.3233C>T (p.Ala1078Val)
c.2465C>T (p.Ala822Val)
c.3167C>T (p.Ala1056Val)
n.89C>T
c.523C>T
Xg.53382558G>CCA413244094SMC1Ac.3233C>G (p.Ala1078Gly)
c.2465C>G (p.Ala822Gly)
c.3167C>G (p.Ala1056Gly)
n.89C>G
c.523C>G
Xg.53382558G>TCA413244096SMC1Ac.3233C>A (p.Ala1078Asp)
c.2465C>A (p.Ala822Asp)
c.3167C>A (p.Ala1056Asp)
n.89C>A
c.523C>A
Xg.53382559C>ACA413244105SMC1Ac.3232G>T (p.Ala1078Ser)
c.2464G>T (p.Ala822Ser)
c.3166G>T (p.Ala1056Ser)
n.88G>T
c.522G>T
Xg.53382559C>GCA413244117SMC1Ac.3232G>C (p.Ala1078Pro)
c.2464G>C (p.Ala822Pro)
c.3166G>C (p.Ala1056Pro)
n.88G>C
c.522G>C
Xg.53382559C>TCA413244115SMC1Ac.3232G>A (p.Ala1078Thr)
c.2464G>A (p.Ala822Thr)
c.3166G>A (p.Ala1056Thr)
n.88G>A
c.522G>A
Xg.53382560C>ACA516688543SMC1Ac.3231G>T (p.Val1077=)
c.2463G>T (p.Val821=)
c.3165G>T (p.Val1055=)
n.87G>T
c.521G>T
Xg.53382560C>GCA516688544SMC1Ac.3231G>C (p.Val1077=)
c.2463G>C (p.Val821=)
c.3165G>C (p.Val1055=)
n.87G>C
c.521G>C
Xg.53382560C>TCA516688545SMC1Ac.3231G>A (p.Val1077=)
c.2463G>A (p.Val821=)
c.3165G>A (p.Val1055=)
n.87G>A
c.521G>A
Xg.53382561A>CCA413244120SMC1Ac.3230T>G (p.Val1077Gly)
c.2462T>G (p.Val821Gly)
c.3164T>G (p.Val1055Gly)
n.86T>G
c.520T>G
Xg.53382561A>GCA413244123SMC1Ac.3230T>C (p.Val1077Ala)
c.2462T>C (p.Val821Ala)
c.3164T>C (p.Val1055Ala)
n.86T>C
c.520T>C
Xg.53382561A>TCA413244130SMC1Ac.3230T>A (p.Val1077Glu)
c.2462T>A (p.Val821Glu)
c.3164T>A (p.Val1055Glu)
n.86T>A
c.520T>A
Xg.53382562C>ACA413244133SMC1Ac.3229G>T (p.Val1077Leu)
c.2461G>T (p.Val821Leu)
c.3163G>T (p.Val1055Leu)
n.85G>T
c.519G>T
Xg.53382562C>GCA413244136SMC1Ac.3229G>C (p.Val1077Leu)
c.2461G>C (p.Val821Leu)
c.3163G>C (p.Val1055Leu)
n.85G>C
c.519G>C
Xg.53382562C>TCA413244137SMC1Ac.3229G>A (p.Val1077Met)
c.2461G>A (p.Val821Met)
c.3163G>A (p.Val1055Met)
n.85G>A
c.519G>A
Xg.53382563A=CA2429817483SMC1Ac.3228T= (p.Ser1076=)
c.2460T= (p.Ser820=)
c.3162T= (p.Ser1054=)
n.84T=
c.518T=
Xg.53382563A>CCA516688546SMC1Ac.3228T>G (p.Ser1076=)
c.2460T>G (p.Ser820=)
c.3162T>G (p.Ser1054=)
n.84T>G
c.518T>G
Xg.53382563A>GCA516688548SMC1Ac.3228T>C (p.Ser1076=)
c.2460T>C (p.Ser820=)
c.3162T>C (p.Ser1054=)
n.84T>C
c.518T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.53382563A>TCA516688547SMC1Ac.3228T>A (p.Ser1076=)
c.2460T>A (p.Ser820=)
c.3162T>A (p.Ser1054=)
n.84T>A
c.518T>A
Xg.53382564G>ACA413244141SMC1Ac.3227C>T (p.Ser1076Phe)
c.2459C>T (p.Ser820Phe)
c.3161C>T (p.Ser1054Phe)
n.83C>T
c.517C>T
 ClinVar dbSNP gnomAD v4
Xg.53382564G>CCA413244139SMC1Ac.3227C>G (p.Ser1076Cys)
c.2459C>G (p.Ser820Cys)
c.3161C>G (p.Ser1054Cys)
n.83C>G
c.517C>G
Xg.53382564G>TCA413244140SMC1Ac.3227C>A (p.Ser1076Tyr)
c.2459C>A (p.Ser820Tyr)
c.3161C>A (p.Ser1054Tyr)
n.83C>A
c.517C>A
Xg.53382565A>CCA413244142SMC1Ac.3226T>G (p.Ser1076Ala)
c.2458T>G (p.Ser820Ala)
c.3160T>G (p.Ser1054Ala)
n.82T>G
c.516T>G
Xg.53382565A>GCA413244143SMC1Ac.3226T>C (p.Ser1076Pro)
c.2458T>C (p.Ser820Pro)
c.3160T>C (p.Ser1054Pro)
n.82T>C
c.516T>C
 gnomAD v4
Xg.53382565A>TCA413244145SMC1Ac.3226T>A (p.Ser1076Thr)
c.2458T>A (p.Ser820Thr)
c.3160T>A (p.Ser1054Thr)
n.82T>A
c.516T>A
Xg.53382566T>ACA413244146SMC1Ac.3225A>T (p.Glu1075Asp)
c.2457A>T (p.Glu819Asp)
c.3159A>T (p.Glu1053Asp)
n.81A>T
c.515A>T
Xg.53382566T>CCA516688549SMC1Ac.3225A>G (p.Glu1075=)
c.2457A>G (p.Glu819=)
c.3159A>G (p.Glu1053=)
n.81A>G
c.515A>G
Xg.53382566T>GCA413244147SMC1Ac.3225A>C (p.Glu1075Asp)
c.2457A>C (p.Glu819Asp)
c.3159A>C (p.Glu1053Asp)
n.81A>C
c.515A>C
Xg.53382567T>ACA413244150SMC1Ac.3224A>T (p.Glu1075Val)
c.2456A>T (p.Glu819Val)
c.3158A>T (p.Glu1053Val)
n.80A>T
c.514A>T
Xg.53382567T>CCA413244153SMC1Ac.3224A>G (p.Glu1075Gly)
c.2456A>G (p.Glu819Gly)
c.3158A>G (p.Glu1053Gly)
n.80A>G
c.514A>G
 ClinVar dbSNP
Xg.53382567T>GCA413244151SMC1Ac.3224A>C (p.Glu1075Ala)
c.2456A>C (p.Glu819Ala)
c.3158A>C (p.Glu1053Ala)
n.80A>C
c.514A>C
Xg.53382567T=CA2429817484SMC1Ac.3224A= (p.Glu1075=)
c.2456A= (p.Glu819=)
c.3158A= (p.Glu1053=)
n.80A=
c.514A=
Xg.53382568C>ACA413244155SMC1Ac.3223G>T (p.Glu1075Ter)
c.2455G>T (p.Glu819Ter)
c.3157G>T (p.Glu1053Ter)
n.79G>T
c.513G>T
Xg.53382568C>GCA413244158SMC1Ac.3223G>C (p.Glu1075Gln)
c.2455G>C (p.Glu819Gln)
c.3157G>C (p.Glu1053Gln)
n.79G>C
c.513G>C
Xg.53382568C>TCA413244160SMC1Ac.3223G>A (p.Glu1075Lys)
c.2455G>A (p.Glu819Lys)
c.3157G>A (p.Glu1053Lys)
n.79G>A
c.513G>A
Xg.53382569A>CCA413244162SMC1Ac.3222T>G (p.Phe1074Leu)
c.2454T>G (p.Phe818Leu)
c.3156T>G (p.Phe1052Leu)
n.78T>G
c.512T>G
Xg.53382569A>GCA516688550SMC1Ac.3222T>C (p.Phe1074=)
c.2454T>C (p.Phe818=)
c.3156T>C (p.Phe1052=)
n.78T>C
c.512T>C
Xg.53382569A>TCA413244164SMC1Ac.3222T>A (p.Phe1074Leu)
c.2454T>A (p.Phe818Leu)
c.3156T>A (p.Phe1052Leu)
n.78T>A
c.512T>A
Xg.53382570A>CCA413244166SMC1Ac.3221T>G (p.Phe1074Cys)
c.2453T>G (p.Phe818Cys)
c.3155T>G (p.Phe1052Cys)
n.77T>G
c.511T>G
Xg.53382570A>GCA413244168SMC1Ac.3221T>C (p.Phe1074Ser)
c.2453T>C (p.Phe818Ser)
c.3155T>C (p.Phe1052Ser)
n.77T>C
c.511T>C
Xg.53382570A>TCA413244169SMC1Ac.3221T>A (p.Phe1074Tyr)
c.2453T>A (p.Phe818Tyr)
c.3155T>A (p.Phe1052Tyr)
n.77T>A
c.511T>A
Xg.53382571A>CCA413244176SMC1Ac.3220T>G (p.Phe1074Val)
c.2452T>G (p.Phe818Val)
c.3154T>G (p.Phe1052Val)
n.76T>G
c.510T>G
Xg.53382571A>GCA413244177SMC1Ac.3220T>C (p.Phe1074Leu)
c.2452T>C (p.Phe818Leu)
c.3154T>C (p.Phe1052Leu)
n.76T>C
c.510T>C
Xg.53382571A>TCA413244178SMC1Ac.3220T>A (p.Phe1074Ile)
c.2452T>A (p.Phe818Ile)
c.3154T>A (p.Phe1052Ile)
n.76T>A
c.510T>A

Number of alleles fetched