Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53380553C>ACA2693803075SMC1Ac.3618+67G>T (n.3618+67G>T)
c.2850+67G>T (n.2850+67G>T)
c.3552+67G>T (n.3552+67G>T)
 gnomAD v4
Xg.53380555T>CCA2693803076SMC1Ac.3618+65A>G (n.3618+65A>G)
c.2850+65A>G (n.2850+65A>G)
c.3552+65A>G (n.3552+65A>G)
 gnomAD v4
Xg.53380556T>ACA2820953517SMC1Ac.3618+64A>T (n.3618+64A>T)
c.2850+64A>T (n.2850+64A>T)
c.3552+64A>T (n.3552+64A>T)
Xg.53380559T>CCA2579615422SMC1Ac.3618+61A>G (n.3618+61A>G)
c.2850+61A>G (n.2850+61A>G)
c.3552+61A>G (n.3552+61A>G)
Xg.53380559T>GCA876269755SMC1Ac.3618+61A>C (n.3618+61A>C)
c.2850+61A>C (n.2850+61A>C)
c.3552+61A>C (n.3552+61A>C)
 dbSNP gnomAD v4
Xg.53380559T=CA2429816921SMC1Ac.3618+61A= (n.3618+61A=)
c.2850+61A= (n.2850+61A=)
c.3552+61A= (n.3552+61A=)
Xg.53380561T>CCA2693803077SMC1Ac.3618+59A>G (n.3618+59A>G)
c.2850+59A>G (n.2850+59A>G)
c.3552+59A>G (n.3552+59A>G)
 gnomAD v4
Xg.53380561T>GCA2579615424SMC1Ac.3618+59A>C (n.3618+59A>C)
c.2850+59A>C (n.2850+59A>C)
c.3552+59A>C (n.3552+59A>C)
Xg.53380562C>ACA2693803078SMC1Ac.3618+58G>T (n.3618+58G>T)
c.2850+58G>T (n.2850+58G>T)
c.3552+58G>T (n.3552+58G>T)
 gnomAD v4
Xg.53380562C>TCA2579615425SMC1Ac.3618+58G>A (n.3618+58G>A)
c.2850+58G>A (n.2850+58G>A)
c.3552+58G>A (n.3552+58G>A)
Xg.53380563C=CA2429816922SMC1Ac.3618+57G= (n.3618+57G=)
c.2850+57G= (n.2850+57G=)
c.3552+57G= (n.3552+57G=)
Xg.53380563C>TCA1133167342SMC1Ac.3618+57G>A (n.3618+57G>A)
c.2850+57G>A (n.2850+57G>A)
c.3552+57G>A (n.3552+57G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.53380564T>CCA876269757SMC1Ac.3618+56A>G (n.3618+56A>G)
c.2850+56A>G (n.2850+56A>G)
c.3552+56A>G (n.3552+56A>G)
 dbSNP gnomAD v4
Xg.53380564T=CA2429816923SMC1Ac.3618+56A= (n.3618+56A=)
c.2850+56A= (n.2850+56A=)
c.3552+56A= (n.3552+56A=)
Xg.53380565G>TCA2579615426SMC1Ac.3618+55C>A (n.3618+55C>A)
c.2850+55C>A (n.2850+55C>A)
c.3552+55C>A (n.3552+55C>A)
 gnomAD v4
Xg.53380566C>ACA2693803079SMC1Ac.3618+54G>T (n.3618+54G>T)
c.2850+54G>T (n.2850+54G>T)
c.3552+54G>T (n.3552+54G>T)
 gnomAD v4
Xg.53380566C>TCA2693803080SMC1Ac.3618+54G>A (n.3618+54G>A)
c.2850+54G>A (n.2850+54G>A)
c.3552+54G>A (n.3552+54G>A)
 gnomAD v4
Xg.53380567C>ACA2693803081SMC1Ac.3618+53G>T (n.3618+53G>T)
c.2850+53G>T (n.2850+53G>T)
c.3552+53G>T (n.3552+53G>T)
 gnomAD v4
Xg.53380567C>TCA2579615427SMC1Ac.3618+53G>A (n.3618+53G>A)
c.2850+53G>A (n.2850+53G>A)
c.3552+53G>A (n.3552+53G>A)
Xg.53380568C>ACA2693803082SMC1Ac.3618+52G>T (n.3618+52G>T)
c.2850+52G>T (n.2850+52G>T)
c.3552+52G>T (n.3552+52G>T)
 gnomAD v4
Xg.53380569T>CCA10420249SMC1Ac.3618+51A>G (n.3618+51A>G)
c.2850+51A>G (n.2850+51A>G)
c.3552+51A>G (n.3552+51A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380569T=CA2429816924SMC1Ac.3618+51A= (n.3618+51A=)
c.2850+51A= (n.2850+51A=)
c.3552+51A= (n.3552+51A=)
Xg.53380570G>TCA2579615429SMC1Ac.3618+50C>A (n.3618+50C>A)
c.2850+50C>A (n.2850+50C>A)
c.3552+50C>A (n.3552+50C>A)
 gnomAD v4
Xg.53380572delCA2579615428SMC1Ac.3618+50del (n.3618+50del)
c.2850+50del (n.2850+50del)
c.3552+50del (n.3552+50del)
Xg.53380571G>TCA2579615430SMC1Ac.3618+49C>A (n.3618+49C>A)
c.2850+49C>A (n.2850+49C>A)
c.3552+49C>A (n.3552+49C>A)
 gnomAD v4
Xg.53380572G>TCA2579615431SMC1Ac.3618+48C>A (n.3618+48C>A)
c.2850+48C>A (n.2850+48C>A)
c.3552+48C>A (n.3552+48C>A)
 gnomAD v4
Xg.53380573A>GCA2579615432SMC1Ac.3618+47T>C (n.3618+47T>C)
c.2850+47T>C (n.2850+47T>C)
c.3552+47T>C (n.3552+47T>C)
Xg.53380574A>GCA2693803083SMC1Ac.3618+46T>C (n.3618+46T>C)
c.2850+46T>C (n.2850+46T>C)
c.3552+46T>C (n.3552+46T>C)
 gnomAD v4
Xg.53380575A>GCA2579615433SMC1Ac.3618+45T>C (n.3618+45T>C)
c.2850+45T>C (n.2850+45T>C)
c.3552+45T>C (n.3552+45T>C)
Xg.53380578A>GCA2693803084SMC1Ac.3618+42T>C (n.3618+42T>C)
c.2850+42T>C (n.2850+42T>C)
c.3552+42T>C (n.3552+42T>C)
 gnomAD v4
Xg.53380579G>ACA2693803085SMC1Ac.3618+41C>T (n.3618+41C>T)
c.2850+41C>T (n.2850+41C>T)
c.3552+41C>T (n.3552+41C>T)
 gnomAD v4
Xg.53380579G>TCA2579615434SMC1Ac.3618+41C>A (n.3618+41C>A)
c.2850+41C>A (n.2850+41C>A)
c.3552+41C>A (n.3552+41C>A)
 gnomAD v4
Xg.53380580G>TCA2693803086SMC1Ac.3618+40C>A (n.3618+40C>A)
c.2850+40C>A (n.2850+40C>A)
c.3552+40C>A (n.3552+40C>A)
 gnomAD v4
Xg.53380581C>ACA2693803087SMC1Ac.3618+39G>T (n.3618+39G>T)
c.2850+39G>T (n.2850+39G>T)
c.3552+39G>T (n.3552+39G>T)
 gnomAD v4
Xg.53380581C>TCA2505047445SMC1Ac.3618+39G>A (n.3618+39G>A)
c.2850+39G>A (n.2850+39G>A)
c.3552+39G>A (n.3552+39G>A)
Xg.53380583G>ACA10420250SMC1Ac.3618+37C>T (n.3618+37C>T)
c.2850+37C>T (n.2850+37C>T)
c.3552+37C>T (n.3552+37C>T)
 dbSNP ExAC gnomAD v4
Xg.53380583G=CA2429816925SMC1Ac.3618+37C= (n.3618+37C=)
c.2850+37C= (n.2850+37C=)
c.3552+37C= (n.3552+37C=)
Xg.53380583G>TCA2693803088SMC1Ac.3618+37C>A (n.3618+37C>A)
c.2850+37C>A (n.2850+37C>A)
c.3552+37C>A (n.3552+37C>A)
 gnomAD v4
Xg.53380584G>TCA2579615435SMC1Ac.3618+36C>A (n.3618+36C>A)
c.2850+36C>A (n.2850+36C>A)
c.3552+36C>A (n.3552+36C>A)
Xg.53380585G>ACA641885830SMC1Ac.3618+35C>T (n.3618+35C>T)
c.2850+35C>T (n.2850+35C>T)
c.3552+35C>T (n.3552+35C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.53380585G=CA2429816926SMC1Ac.3618+35C= (n.3618+35C=)
c.2850+35C= (n.2850+35C=)
c.3552+35C= (n.3552+35C=)
Xg.53380585G>TCA2579615436SMC1Ac.3618+35C>A (n.3618+35C>A)
c.2850+35C>A (n.2850+35C>A)
c.3552+35C>A (n.3552+35C>A)
 gnomAD v4
Xg.53380586A>CCA2693803089SMC1Ac.3618+34T>G (n.3618+34T>G)
c.2850+34T>G (n.2850+34T>G)
c.3552+34T>G (n.3552+34T>G)
 gnomAD v4
Xg.53380587G>ACA641885832SMC1Ac.3618+33C>T (n.3618+33C>T)
c.2850+33C>T (n.2850+33C>T)
c.3552+33C>T (n.3552+33C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.53380587G=CA2429816927SMC1Ac.3618+33C= (n.3618+33C=)
c.2850+33C= (n.2850+33C=)
c.3552+33C= (n.3552+33C=)
Xg.53380588T>CCA2429816929SMC1Ac.3618+32A>G (n.3618+32A>G)
c.2850+32A>G (n.2850+32A>G)
c.3552+32A>G (n.3552+32A>G)
 dbSNP
Xg.53380588T=CA2429816928SMC1Ac.3618+32A= (n.3618+32A=)
c.2850+32A= (n.2850+32A=)
c.3552+32A= (n.3552+32A=)
Xg.53380588_53380589insGCA2579615437SMC1Ac.3618+31_3618+32insC (n.3618+31_3618+32insC)
c.2850+31_2850+32insC (n.2850+31_2850+32insC)
c.3552+31_3552+32insC (n.3552+31_3552+32insC)
Xg.53380589A>GCA2579615438SMC1Ac.3618+31T>C (n.3618+31T>C)
c.2850+31T>C (n.2850+31T>C)
c.3552+31T>C (n.3552+31T>C)
Xg.53380590G>TCA2693803090SMC1Ac.3618+30C>A (n.3618+30C>A)
c.2850+30C>A (n.2850+30C>A)
c.3552+30C>A (n.3552+30C>A)
 gnomAD v4
Xg.53380591G>ACA2693803091SMC1Ac.3618+29C>T (n.3618+29C>T)
c.2850+29C>T (n.2850+29C>T)
c.3552+29C>T (n.3552+29C>T)
 gnomAD v4
Xg.53380591G>TCA2693803092SMC1Ac.3618+29C>A (n.3618+29C>A)
c.2850+29C>A (n.2850+29C>A)
c.3552+29C>A (n.3552+29C>A)
 gnomAD v4
Xg.53380592A>CCA2579615439SMC1Ac.3618+28T>G (n.3618+28T>G)
c.2850+28T>G (n.2850+28T>G)
c.3552+28T>G (n.3552+28T>G)
Xg.53380592A>GCA2579615440SMC1Ac.3618+28T>C (n.3618+28T>C)
c.2850+28T>C (n.2850+28T>C)
c.3552+28T>C (n.3552+28T>C)
Xg.53380593C>ACA641885835SMC1Ac.3618+27G>T (n.3618+27G>T)
c.2850+27G>T (n.2850+27G>T)
c.3552+27G>T (n.3552+27G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380593C=CA2429816930SMC1Ac.3618+27G= (n.3618+27G=)
c.2850+27G= (n.2850+27G=)
c.3552+27G= (n.3552+27G=)
Xg.53380593C>TCA2693803093SMC1Ac.3618+27G>A (n.3618+27G>A)
c.2850+27G>A (n.2850+27G>A)
c.3552+27G>A (n.3552+27G>A)
 gnomAD v4
Xg.53380594T>ACA2693803094SMC1Ac.3618+26A>T (n.3618+26A>T)
c.2850+26A>T (n.2850+26A>T)
c.3552+26A>T (n.3552+26A>T)
 gnomAD v4
Xg.53380595G>CCA2429816932SMC1Ac.3618+25C>G (n.3618+25C>G)
c.2850+25C>G (n.2850+25C>G)
c.3552+25C>G (n.3552+25C>G)
 dbSNP
Xg.53380595G=CA2429816931SMC1Ac.3618+25C= (n.3618+25C=)
c.2850+25C= (n.2850+25C=)
c.3552+25C= (n.3552+25C=)
Xg.53380596G>ACA2693803095SMC1Ac.3618+24C>T (n.3618+24C>T)
c.2850+24C>T (n.2850+24C>T)
c.3552+24C>T (n.3552+24C>T)
 gnomAD v4
Xg.53380596G>TCA2693803096SMC1Ac.3618+24C>A (n.3618+24C>A)
c.2850+24C>A (n.2850+24C>A)
c.3552+24C>A (n.3552+24C>A)
 gnomAD v4
Xg.53380597C=CA2429816933SMC1Ac.3618+23G= (n.3618+23G=)
c.2850+23G= (n.2850+23G=)
c.3552+23G= (n.3552+23G=)
Xg.53380597C>TCA641885838SMC1Ac.3618+23G>A (n.3618+23G>A)
c.2850+23G>A (n.2850+23G>A)
c.3552+23G>A (n.3552+23G>A)
 dbSNP gnomAD v2
Xg.53380598T>CCA2693803097SMC1Ac.3618+22A>G (n.3618+22A>G)
c.2850+22A>G (n.2850+22A>G)
c.3552+22A>G (n.3552+22A>G)
 gnomAD v4
Xg.53380600C>ACA2579615441SMC1Ac.3618+20G>T (n.3618+20G>T)
c.2850+20G>T (n.2850+20G>T)
c.3552+20G>T (n.3552+20G>T)
Xg.53380601T>CCA2429816934SMC1Ac.3618+19A>G (n.3618+19A>G)
c.2850+19A>G (n.2850+19A>G)
c.3552+19A>G (n.3552+19A>G)
 dbSNP gnomAD v4
Xg.53380601T>GCA2579615442SMC1Ac.3618+19A>C (n.3618+19A>C)
c.2850+19A>C (n.2850+19A>C)
c.3552+19A>C (n.3552+19A>C)
Xg.53380601T=CA2429816935SMC1Ac.3618+19A= (n.3618+19A=)
c.2850+19A= (n.2850+19A=)
c.3552+19A= (n.3552+19A=)
Xg.53380602G>TCA2579615443SMC1Ac.3618+18C>A (n.3618+18C>A)
c.2850+18C>A (n.2850+18C>A)
c.3552+18C>A (n.3552+18C>A)
 gnomAD v4
Xg.53380603A>GCA2693803098SMC1Ac.3618+17T>C (n.3618+17T>C)
c.2850+17T>C (n.2850+17T>C)
c.3552+17T>C (n.3552+17T>C)
 gnomAD v4
Xg.53380604G>ACA2693803099SMC1Ac.3618+16C>T (n.3618+16C>T)
c.2850+16C>T (n.2850+16C>T)
c.3552+16C>T (n.3552+16C>T)
 gnomAD v4
Xg.53380604G>TCA2693803100SMC1Ac.3618+16C>A (n.3618+16C>A)
c.2850+16C>A (n.2850+16C>A)
c.3552+16C>A (n.3552+16C>A)
 gnomAD v4
Xg.53380605C>TCA2558549696SMC1Ac.3618+15G>A (n.3618+15G>A)
c.2850+15G>A (n.2850+15G>A)
c.3552+15G>A (n.3552+15G>A)
 gnomAD v4
Xg.53380606C>ACA2536660737SMC1Ac.3618+14G>T (n.3618+14G>T)
c.2850+14G>T (n.2850+14G>T)
c.3552+14G>T (n.3552+14G>T)
Xg.53380606C>GCA2693803101SMC1Ac.3618+14G>C (n.3618+14G>C)
c.2850+14G>C (n.2850+14G>C)
c.3552+14G>C (n.3552+14G>C)
 gnomAD v4
Xg.53380607A=CA2429816936SMC1Ac.3618+13T= (n.3618+13T=)
c.2850+13T= (n.2850+13T=)
c.3552+13T= (n.3552+13T=)
Xg.53380607A>GCA10420251SMC1Ac.3618+13T>C (n.3618+13T>C)
c.2850+13T>C (n.2850+13T>C)
c.3552+13T>C (n.3552+13T>C)
 dbSNP ExAC
Xg.53380608G>TCA2579615444SMC1Ac.3618+12C>A (n.3618+12C>A)
c.2850+12C>A (n.2850+12C>A)
c.3552+12C>A (n.3552+12C>A)
 gnomAD v4
Xg.53380609G>ACA2693803102SMC1Ac.3618+11C>T (n.3618+11C>T)
c.2850+11C>T (n.2850+11C>T)
c.3552+11C>T (n.3552+11C>T)
 gnomAD v4
Xg.53380609G>TCA2579615445SMC1Ac.3618+11C>A (n.3618+11C>A)
c.2850+11C>A (n.2850+11C>A)
c.3552+11C>A (n.3552+11C>A)
 gnomAD v4
Xg.53380610C>ACA2693803103SMC1Ac.3618+10G>T (n.3618+10G>T)
c.2850+10G>T (n.2850+10G>T)
c.3552+10G>T (n.3552+10G>T)
 gnomAD v4
Xg.53380610C=CA2429816937SMC1Ac.3618+10G= (n.3618+10G=)
c.2850+10G= (n.2850+10G=)
c.3552+10G= (n.3552+10G=)
Xg.53380610C>TCA10420252SMC1Ac.3618+10G>A (n.3618+10G>A)
c.2850+10G>A (n.2850+10G>A)
c.3552+10G>A (n.3552+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380611C>TCA2579615447SMC1Ac.3618+9G>A (n.3618+9G>A)
c.2850+9G>A (n.2850+9G>A)
c.3552+9G>A (n.3552+9G>A)
 gnomAD v4
Xg.53380612C=CA2429816938SMC1Ac.3618+8G= (n.3618+8G=)
c.2850+8G= (n.2850+8G=)
c.3552+8G= (n.3552+8G=)
Xg.53380612C>GCA641885840SMC1Ac.3618+8G>C (n.3618+8G>C)
c.2850+8G>C (n.2850+8G>C)
c.3552+8G>C (n.3552+8G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380612C>TCA10420253SMC1Ac.3618+8G>A (n.3618+8G>A)
c.2850+8G>A (n.2850+8G>A)
c.3552+8G>A (n.3552+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380613G>ACA10420254SMC1Ac.3618+7C>T (n.3618+7C>T)
c.2850+7C>T (n.2850+7C>T)
c.3552+7C>T (n.3552+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380613G>CCA2693803104SMC1Ac.3618+7C>G (n.3618+7C>G)
c.2850+7C>G (n.2850+7C>G)
c.3552+7C>G (n.3552+7C>G)
 gnomAD v4
Xg.53380613G=CA2429816939SMC1Ac.3618+7C= (n.3618+7C=)
c.2850+7C= (n.2850+7C=)
c.3552+7C= (n.3552+7C=)
Xg.53380613G>TCA2693803105SMC1Ac.3618+7C>A (n.3618+7C>A)
c.2850+7C>A (n.2850+7C>A)
c.3552+7C>A (n.3552+7C>A)
 gnomAD v4
Xg.53380614C>ACA10420255SMC1Ac.3618+6G>T (n.3618+6G>T)
c.2850+6G>T (n.2850+6G>T)
c.3552+6G>T (n.3552+6G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380614C=CA2429816940SMC1Ac.3618+6G= (n.3618+6G=)
c.2850+6G= (n.2850+6G=)
c.3552+6G= (n.3552+6G=)
Xg.53380616C=CA2429816941SMC1Ac.3618+4G= (n.3618+4G=)
c.2850+4G= (n.2850+4G=)
c.3552+4G= (n.3552+4G=)
Xg.53380616C>TCA10420256SMC1Ac.3618+4G>A (n.3618+4G>A)
c.2850+4G>A (n.2850+4G>A)
c.3552+4G>A (n.3552+4G>A)
 dbSNP ExAC
Xg.53380618A>CCA413241737SMC1Ac.3618+2T>G (n.3618+2T>G)
c.2850+2T>G (n.2850+2T>G)
c.3552+2T>G (n.3552+2T>G)
Xg.53380618A>GCA413241736SMC1Ac.3618+2T>C (n.3618+2T>C)
c.2850+2T>C (n.2850+2T>C)
c.3552+2T>C (n.3552+2T>C)
Xg.53380618A>TCA413241735SMC1Ac.3618+2T>A (n.3618+2T>A)
c.2850+2T>A (n.2850+2T>A)
c.3552+2T>A (n.3552+2T>A)
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

Number of alleles fetched