Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47337581_47337690delCA2791331873MYBPC3c.2413+2_2414del
c.2413+2_2414-68del
c.2395+2_2396del
c.2332+2_2333del
11g.47337626C>ACA2518385363MYBPC3c.2414-47G>T (n.2414-47G>T)
c.2413+64G>T (n.2413+64G>T)
c.2396-47G>T (n.2396-47G>T)
c.2333-47G>T (n.2333-47G>T)
11g.47337628C>ACA2613401848MYBPC3c.2414-49G>T (n.2414-49G>T)
c.2413+62G>T (n.2413+62G>T)
c.2396-49G>T (n.2396-49G>T)
c.2333-49G>T (n.2333-49G>T)
 gnomAD v4
11g.47337629A=CA1969331530MYBPC3c.2414-50T= (n.2414-50T=)
c.2413+61T= (n.2413+61T=)
c.2396-50T= (n.2396-50T=)
c.2333-50T= (n.2333-50T=)
11g.47337629A>GCA1969331531MYBPC3c.2414-50T>C (n.2414-50T>C)
c.2413+61T>C (n.2413+61T>C)
c.2396-50T>C (n.2396-50T>C)
c.2333-50T>C (n.2333-50T>C)
 dbSNP gnomAD v4
11g.47337630C>TCA2613401851MYBPC3c.2414-51G>A (n.2414-51G>A)
c.2413+60G>A (n.2413+60G>A)
c.2396-51G>A (n.2396-51G>A)
c.2333-51G>A (n.2333-51G>A)
 gnomAD v4
11g.47337631C=CA1969331532MYBPC3c.2414-52G= (n.2414-52G=)
c.2413+59G= (n.2413+59G=)
c.2396-52G= (n.2396-52G=)
c.2333-52G= (n.2333-52G=)
11g.47337631C>GCA2613401855MYBPC3c.2414-52G>C (n.2414-52G>C)
c.2413+59G>C (n.2413+59G>C)
c.2396-52G>C (n.2396-52G>C)
c.2333-52G>C (n.2333-52G>C)
 gnomAD v4
11g.47337631C>TCA221688752MYBPC3c.2414-52G>A (n.2414-52G>A)
c.2413+59G>A (n.2413+59G>A)
c.2396-52G>A (n.2396-52G>A)
c.2333-52G>A (n.2333-52G>A)
 dbSNP gnomAD v4
11g.47337633C=CA1969331533MYBPC3c.2414-54G= (n.2414-54G=)
c.2413+57G= (n.2413+57G=)
c.2396-54G= (n.2396-54G=)
c.2333-54G= (n.2333-54G=)
11g.47337633C>TCA221688764MYBPC3c.2414-54G>A (n.2414-54G>A)
c.2413+57G>A (n.2413+57G>A)
c.2396-54G>A (n.2396-54G>A)
c.2333-54G>A (n.2333-54G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.47337635T>ACA2613401859MYBPC3c.2414-56A>T (n.2414-56A>T)
c.2413+55A>T (n.2413+55A>T)
c.2396-56A>T (n.2396-56A>T)
c.2333-56A>T (n.2333-56A>T)
 gnomAD v4
11g.47337637C=CA1969331534MYBPC3c.2413+53G= (n.2413+53G=)
c.2395+53G= (n.2395+53G=)
c.2332+53G= (n.2332+53G=)
11g.47337637C>TCA676995139MYBPC3c.2413+53G>A (n.2413+53G>A)
c.2395+53G>A (n.2395+53G>A)
c.2332+53G>A (n.2332+53G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.47337639C=CA1969331535MYBPC3c.2413+51G= (n.2413+51G=)
c.2395+51G= (n.2395+51G=)
c.2332+51G= (n.2332+51G=)
11g.47337639C>TCA599374215MYBPC3c.2413+51G>A (n.2413+51G>A)
c.2395+51G>A (n.2395+51G>A)
c.2332+51G>A (n.2332+51G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337641C>ACA221688769MYBPC3c.2413+49G>T (n.2413+49G>T)
c.2395+49G>T (n.2395+49G>T)
c.2332+49G>T (n.2332+49G>T)
 dbSNP gnomAD v4
11g.47337641C=CA1969331536MYBPC3c.2413+49G= (n.2413+49G=)
c.2395+49G= (n.2395+49G=)
c.2332+49G= (n.2332+49G=)
11g.47337641C>TCA078709MYBPC3c.2413+49G>A (n.2413+49G>A)
c.2395+49G>A (n.2395+49G>A)
c.2332+49G>A (n.2332+49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337642G>ACA599374217MYBPC3c.2413+48C>T (n.2413+48C>T)
c.2395+48C>T (n.2395+48C>T)
c.2332+48C>T (n.2332+48C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337642G=CA1969331537MYBPC3c.2413+48C= (n.2413+48C=)
c.2395+48C= (n.2395+48C=)
c.2332+48C= (n.2332+48C=)
11g.47337643G>ACA078707MYBPC3c.2413+47C>T (n.2413+47C>T)
c.2395+47C>T (n.2395+47C>T)
c.2332+47C>T (n.2332+47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337643G=CA1969331538MYBPC3c.2413+47C= (n.2413+47C=)
c.2395+47C= (n.2395+47C=)
c.2332+47C= (n.2332+47C=)
11g.47337643G>TCA2574816018MYBPC3c.2413+47C>A (n.2413+47C>A)
c.2395+47C>A (n.2395+47C>A)
c.2332+47C>A (n.2332+47C>A)
 gnomAD v4
11g.47337644_47337645delinsATCA1969331539MYBPC3c.2413+45_2413+46delinsAT (n.2413+45_2413+46delinsAT)
c.2395+45_2395+46delinsAT (n.2395+45_2395+46delinsAT)
c.2332+45_2332+46delinsAT (n.2332+45_2332+46delinsAT)
11g.47337645delCA078706MYBPC3c.2413+45del (n.2413+45del)
c.2395+45del (n.2395+45del)
c.2332+45del (n.2332+45del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337646C>ACA599374221MYBPC3c.2413+44G>T (n.2413+44G>T)
c.2395+44G>T (n.2395+44G>T)
c.2332+44G>T (n.2332+44G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337646C=CA1969331540MYBPC3c.2413+44G= (n.2413+44G=)
c.2395+44G= (n.2395+44G=)
c.2332+44G= (n.2332+44G=)
11g.47337646C>GCA078704MYBPC3c.2413+44G>C (n.2413+44G>C)
c.2395+44G>C (n.2395+44G>C)
c.2332+44G>C (n.2332+44G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337650T>CCA1969331542MYBPC3c.2413+40A>G (n.2413+40A>G)
c.2395+40A>G (n.2395+40A>G)
c.2332+40A>G (n.2332+40A>G)
 dbSNP gnomAD v4
11g.47337650T=CA1969331541MYBPC3c.2413+40A= (n.2413+40A=)
c.2395+40A= (n.2395+40A=)
c.2332+40A= (n.2332+40A=)
11g.47337651T>CCA1969331543MYBPC3c.2413+39A>G (n.2413+39A>G)
c.2395+39A>G (n.2395+39A>G)
c.2332+39A>G (n.2332+39A>G)
 dbSNP
11g.47337651T>GCA937668740MYBPC3c.2413+39A>C (n.2413+39A>C)
c.2395+39A>C (n.2395+39A>C)
c.2332+39A>C (n.2332+39A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.47337651T=CA1969331544MYBPC3c.2413+39A= (n.2413+39A=)
c.2395+39A= (n.2395+39A=)
c.2332+39A= (n.2332+39A=)
11g.47337653G>ACA2613401883MYBPC3c.2413+37C>T (n.2413+37C>T)
c.2395+37C>T (n.2395+37C>T)
c.2332+37C>T (n.2332+37C>T)
 gnomAD v4
11g.47337654C>ACA599374222MYBPC3c.2413+36G>T (n.2413+36G>T)
c.2395+36G>T (n.2395+36G>T)
c.2332+36G>T (n.2332+36G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47337654C=CA1969331545MYBPC3c.2413+36G= (n.2413+36G=)
c.2395+36G= (n.2395+36G=)
c.2332+36G= (n.2332+36G=)
11g.47337654C>GCA078702MYBPC3c.2413+36G>C (n.2413+36G>C)
c.2395+36G>C (n.2395+36G>C)
c.2332+36G>C (n.2332+36G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337654C>TCA078700MYBPC3c.2413+36G>A (n.2413+36G>A)
c.2395+36G>A (n.2395+36G>A)
c.2332+36G>A (n.2332+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337655G>ACA221688820MYBPC3c.2413+35C>T (n.2413+35C>T)
c.2395+35C>T (n.2395+35C>T)
c.2332+35C>T (n.2332+35C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47337655G=CA1969331546MYBPC3c.2413+35C= (n.2413+35C=)
c.2395+35C= (n.2395+35C=)
c.2332+35C= (n.2332+35C=)
11g.47337656C=CA1969331547MYBPC3c.2413+34G= (n.2413+34G=)
c.2395+34G= (n.2395+34G=)
c.2332+34G= (n.2332+34G=)
11g.47337656C>TCA078698MYBPC3c.2413+34G>A (n.2413+34G>A)
c.2395+34G>A (n.2395+34G>A)
c.2332+34G>A (n.2332+34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337657C>GCA049676MYBPC3c.2413+33G>C (n.2413+33G>C)
c.2395+33G>C (n.2395+33G>C)
c.2332+33G>C (n.2332+33G>C)
11g.47337657C>TCA049669MYBPC3c.2413+33G>A (n.2413+33G>A)
c.2395+33G>A (n.2395+33G>A)
c.2332+33G>A (n.2332+33G>A)
 gnomAD v4
11g.47337658C>GCA2613401895MYBPC3c.2413+32G>C (n.2413+32G>C)
c.2395+32G>C (n.2395+32G>C)
c.2332+32G>C (n.2332+32G>C)
 gnomAD v4
11g.47337662C>TCA2613401897MYBPC3c.2413+28G>A (n.2413+28G>A)
c.2395+28G>A (n.2395+28G>A)
c.2332+28G>A (n.2332+28G>A)
 gnomAD v4
11g.47337663A=CA1969331549MYBPC3c.2413+27T= (n.2413+27T=)
c.2395+27T= (n.2395+27T=)
c.2332+27T= (n.2332+27T=)
11g.47337663A>CCA1969331548MYBPC3c.2413+27T>G (n.2413+27T>G)
c.2395+27T>G (n.2395+27T>G)
c.2332+27T>G (n.2332+27T>G)
 dbSNP gnomAD v4
11g.47337663A>GCA078696MYBPC3c.2413+27T>C (n.2413+27T>C)
c.2395+27T>C (n.2395+27T>C)
c.2332+27T>C (n.2332+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337664C=CA1969331550MYBPC3c.2413+26G= (n.2413+26G=)
c.2395+26G= (n.2395+26G=)
c.2332+26G= (n.2332+26G=)
11g.47337664C>GCA599374227MYBPC3c.2413+26G>C (n.2413+26G>C)
c.2395+26G>C (n.2395+26G>C)
c.2332+26G>C (n.2332+26G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337666_47337668delCA2613401904MYBPC3c.2413+24_2413+26del (n.2413+24_2413+26del)
c.2395+24_2395+26del (n.2395+24_2395+26del)
c.2332+24_2332+26del (n.2332+24_2332+26del)
 gnomAD v4
11g.47337665C>GCA2613401906MYBPC3c.2413+25G>C (n.2413+25G>C)
c.2395+25G>C (n.2395+25G>C)
c.2332+25G>C (n.2332+25G>C)
 dbSNP gnomAD v4
11g.47337665C>TCA2613401907MYBPC3c.2413+25G>A (n.2413+25G>A)
c.2395+25G>A (n.2395+25G>A)
c.2332+25G>A (n.2332+25G>A)
 gnomAD v4
11g.47337672C=CA1969331551MYBPC3c.2413+18G= (n.2413+18G=)
c.2395+18G= (n.2395+18G=)
c.2332+18G= (n.2332+18G=)
11g.47337672C>GCA658797626MYBPC3c.2413+18G>C (n.2413+18G>C)
c.2395+18G>C (n.2395+18G>C)
c.2332+18G>C (n.2332+18G>C)
 ClinVar dbSNP
11g.47337672C>TCA078694MYBPC3c.2413+18G>A (n.2413+18G>A)
c.2395+18G>A (n.2395+18G>A)
c.2332+18G>A (n.2332+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.47337673G>ACA078692MYBPC3c.2413+17C>T (n.2413+17C>T)
c.2395+17C>T (n.2395+17C>T)
c.2332+17C>T (n.2332+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337673G>CCA2574816024MYBPC3c.2413+17C>G (n.2413+17C>G)
c.2395+17C>G (n.2395+17C>G)
c.2332+17C>G (n.2332+17C>G)
11g.47337673G=CA1969331552MYBPC3c.2413+17C= (n.2413+17C=)
c.2395+17C= (n.2395+17C=)
c.2332+17C= (n.2332+17C=)
11g.47337673G>TCA078690MYBPC3c.2413+17C>A (n.2413+17C>A)
c.2395+17C>A (n.2395+17C>A)
c.2332+17C>A (n.2332+17C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337674G>ACA2613401928MYBPC3c.2413+16C>T (n.2413+16C>T)
c.2395+16C>T (n.2395+16C>T)
c.2332+16C>T (n.2332+16C>T)
 gnomAD v4
11g.47337674G>CCA599374230MYBPC3c.2413+16C>G (n.2413+16C>G)
c.2395+16C>G (n.2395+16C>G)
c.2332+16C>G (n.2332+16C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.47337674G=CA1969331553MYBPC3c.2413+16C= (n.2413+16C=)
c.2395+16C= (n.2395+16C=)
c.2332+16C= (n.2332+16C=)
11g.47337676G>ACA049629MYBPC3c.2413+14C>T (n.2413+14C>T)
c.2395+14C>T (n.2395+14C>T)
c.2332+14C>T (n.2332+14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337676G=CA1969331554MYBPC3c.2413+14C= (n.2413+14C=)
c.2395+14C= (n.2395+14C=)
c.2332+14C= (n.2332+14C=)
11g.47337676G>TCA049616MYBPC3c.2413+14C>A (n.2413+14C>A)
c.2395+14C>A (n.2395+14C>A)
c.2332+14C>A (n.2332+14C>A)
 gnomAD v4
11g.47337678C>GCA2613401935MYBPC3c.2413+12G>C (n.2413+12G>C)
c.2395+12G>C (n.2395+12G>C)
c.2332+12G>C (n.2332+12G>C)
 gnomAD v4
11g.47337679C>ACA2613401937MYBPC3c.2413+11G>T (n.2413+11G>T)
c.2395+11G>T (n.2395+11G>T)
c.2332+11G>T (n.2332+11G>T)
 gnomAD v4
11g.47337681T>CCA2613401939MYBPC3c.2413+9A>G (n.2413+9A>G)
c.2395+9A>G (n.2395+9A>G)
c.2332+9A>G (n.2332+9A>G)
 gnomAD v4
11g.47337681T>GCA2613401938MYBPC3c.2413+9A>C (n.2413+9A>C)
c.2395+9A>C (n.2395+9A>C)
c.2332+9A>C (n.2332+9A>C)
 gnomAD v4
11g.47337682G=CA1969331555MYBPC3c.2413+8C= (n.2413+8C=)
c.2395+8C= (n.2395+8C=)
c.2332+8C= (n.2332+8C=)
11g.47337682G>TCA1969331556MYBPC3c.2413+8C>A (n.2413+8C>A)
c.2395+8C>A (n.2395+8C>A)
c.2332+8C>A (n.2332+8C>A)
 dbSNP
11g.47337683C>ACA2613401941MYBPC3c.2413+7G>T (n.2413+7G>T)
c.2395+7G>T (n.2395+7G>T)
c.2332+7G>T (n.2332+7G>T)
 gnomAD v4
11g.47337683C=CA1969331557MYBPC3c.2413+7G= (n.2413+7G=)
c.2395+7G= (n.2395+7G=)
c.2332+7G= (n.2332+7G=)
11g.47337683C>TCA078713MYBPC3c.2413+7G>A (n.2413+7G>A)
c.2395+7G>A (n.2395+7G>A)
c.2332+7G>A (n.2332+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337684A=CA1969331558MYBPC3c.2413+6T= (n.2413+6T=)
c.2395+6T= (n.2395+6T=)
c.2332+6T= (n.2332+6T=)
11g.47337684A>GCA078711MYBPC3c.2413+6T>C (n.2413+6T>C)
c.2395+6T>C (n.2395+6T>C)
c.2332+6T>C (n.2332+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337684_47337687delinsACTCCA1969331559MYBPC3c.2413+3_2413+6delinsGAGT (n.2413+3_2413+6delinsGAGT)
c.2395+3_2395+6delinsGAGT (n.2395+3_2395+6delinsGAGT)
c.2332+3_2332+6delinsGAGT (n.2332+3_2332+6delinsGAGT)
11g.47337685C>ACA2697548564MYBPC3c.2413+5G>T (n.2413+5G>T)
c.2395+5G>T (n.2395+5G>T)
c.2332+5G>T (n.2332+5G>T)
 ClinVar
11g.47337685C=CA1969331560MYBPC3c.2413+5G= (n.2413+5G=)
c.2395+5G= (n.2395+5G=)
c.2332+5G= (n.2332+5G=)
11g.47337685C>TCA676995181MYBPC3c.2413+5G>A (n.2413+5G>A)
c.2395+5G>A (n.2395+5G>A)
c.2332+5G>A (n.2332+5G>A)
 ClinVar dbSNP
11g.47337685_47337687delCA16613583MYBPC3c.2413+3_2413+5del (n.2413+3_2413+5del)
c.2395+3_2395+5del (n.2395+3_2395+5del)
c.2332+3_2332+5del (n.2332+3_2332+5del)
 ClinVar dbSNP
11g.47337687delCA2695212761MYBPC3c.2413+3del (n.2413+3del)
c.2395+3del (n.2395+3del)
c.2332+3del (n.2332+3del)
11g.47337687C>ACA2613401964MYBPC3c.2413+3G>T (n.2413+3G>T)
c.2395+3G>T (n.2395+3G>T)
c.2332+3G>T (n.2332+3G>T)
 gnomAD v4
11g.47337687C=CA1969331561MYBPC3c.2413+3G= (n.2413+3G=)
c.2395+3G= (n.2395+3G=)
c.2332+3G= (n.2332+3G=)
11g.47337687dupCA2695212762MYBPC3c.2413+3dup (n.2413+3dup)
c.2395+3dup (n.2395+3dup)
c.2332+3dup (n.2332+3dup)
11g.47337688A>CCA380318565MYBPC3c.2413+2T>G (n.2413+2T>G)
c.2395+2T>G (n.2395+2T>G)
c.2332+2T>G (n.2332+2T>G)
11g.47337688A>GCA380318567MYBPC3c.2413+2T>C (n.2413+2T>C)
c.2395+2T>C (n.2395+2T>C)
c.2332+2T>C (n.2332+2T>C)
11g.47337688A>TCA380318568MYBPC3c.2413+2T>A (n.2413+2T>A)
c.2395+2T>A (n.2395+2T>A)
c.2332+2T>A (n.2332+2T>A)
 ClinVar
11g.47337688dupCA198895MYBPC3c.2413+2dup (n.2413+2dup)
c.2395+2dup (n.2395+2dup)
c.2332+2dup (n.2332+2dup)
 dbSNP
11g.47337689C>ACA380318571MYBPC3c.2413+1G>T (n.2413+1G>T)
c.2395+1G>T (n.2395+1G>T)
c.2332+1G>T (n.2332+1G>T)
11g.47337689C=CA1969331562MYBPC3c.2413+1G= (n.2413+1G=)
c.2395+1G= (n.2395+1G=)
c.2332+1G= (n.2332+1G=)
11g.47337689C>GCA380318573MYBPC3c.2413+1G>C (n.2413+1G>C)
c.2395+1G>C (n.2395+1G>C)
c.2332+1G>C (n.2332+1G>C)
11g.47337689C>TCA380318574MYBPC3c.2413+1G>A (n.2413+1G>A)
c.2395+1G>A (n.2395+1G>A)
c.2332+1G>A (n.2332+1G>A)
 ClinVar dbSNP
11g.47337691delCA2574816029MYBPC3c.2413+1del
c.2395+1del
c.2332+1del
11g.47337690C>ACA380318579MYBPC3c.2413G>T (p.Gly805Cys)
c.2413G>T (p.Gly805Ter)
c.2395G>T (p.Gly799Cys)
c.2332G>T (p.Gly778Cys)
 gnomAD v4
11g.47337690C=CA1969331563MYBPC3c.2413G= (p.Gly805=)
c.2395G= (p.Gly799=)
c.2332G= (p.Gly778=)
11g.47337690C>GCA380318580MYBPC3c.2413G>C (p.Gly805Arg)
c.2395G>C (p.Gly799Arg)
c.2332G>C (p.Gly778Arg)
11g.47337690C>TCA380318577MYBPC3c.2413G>A (p.Gly805Ser)
c.2413G>A (p.Gly805Arg)
c.2395G>A (p.Gly799Ser)
c.2332G>A (p.Gly778Ser)
 ClinVar dbSNP gnomAD v2
11g.47337691C>ACA474429373MYBPC3c.2412G>T (p.Leu804=)
c.2394G>T (p.Leu798=)
c.2331G>T (p.Leu777=)
11g.47337691C>GCA474429374MYBPC3c.2412G>C (p.Leu804=)
c.2394G>C (p.Leu798=)
c.2331G>C (p.Leu777=)
 gnomAD v4
11g.47337691C>TCA474429375MYBPC3c.2412G>A (p.Leu804=)
c.2394G>A (p.Leu798=)
c.2331G>A (p.Leu777=)
 gnomAD v4
11g.47337692A>CCA380318583MYBPC3c.2411T>G (p.Leu804Arg)
c.2393T>G (p.Leu798Arg)
c.2330T>G (p.Leu777Arg)
11g.47337692A>GCA380318584MYBPC3c.2411T>C (p.Leu804Pro)
c.2393T>C (p.Leu798Pro)
c.2330T>C (p.Leu777Pro)
 ClinVar gnomAD v4
11g.47337692A>TCA380318586MYBPC3c.2411T>A (p.Leu804Gln)
c.2393T>A (p.Leu798Gln)
c.2330T>A (p.Leu777Gln)
 gnomAD v4
11g.47337693G>ACA474429376MYBPC3c.2410C>T (p.Leu804=)
c.2392C>T (p.Leu798=)
c.2329C>T (p.Leu777=)
11g.47337693G>CCA380318588MYBPC3c.2410C>G (p.Leu804Val)
c.2392C>G (p.Leu798Val)
c.2329C>G (p.Leu777Val)
11g.47337693G=CA1969331564MYBPC3c.2410C= (p.Leu804=)
c.2392C= (p.Leu798=)
c.2329C= (p.Leu777=)
11g.47337693G>TCA221688879MYBPC3c.2410C>A (p.Leu804Met)
c.2392C>A (p.Leu798Met)
c.2329C>A (p.Leu777Met)
 dbSNP gnomAD v4
11g.47337694G>ACA474429377MYBPC3c.2409C>T (p.Ile803=)
c.2391C>T (p.Ile797=)
c.2328C>T (p.Ile776=)
 gnomAD v4
11g.47337694G>CCA380318590MYBPC3c.2409C>G (p.Ile803Met)
c.2391C>G (p.Ile797Met)
c.2328C>G (p.Ile776Met)
 ClinVar dbSNP gnomAD v4
11g.47337694G=CA1969331565MYBPC3c.2409C= (p.Ile803=)
c.2391C= (p.Ile797=)
c.2328C= (p.Ile776=)
11g.47337694G>TCA078685MYBPC3c.2409C>A (p.Ile803=)
c.2391C>A (p.Ile797=)
c.2328C>A (p.Ile776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337695A=CA1969331566MYBPC3c.2408T= (p.Ile803=)
c.2390T= (p.Ile797=)
c.2327T= (p.Ile776=)
11g.47337695A>CCA380318591MYBPC3c.2408T>G (p.Ile803Ser)
c.2390T>G (p.Ile797Ser)
c.2327T>G (p.Ile776Ser)
11g.47337695A>GCA380318593MYBPC3c.2408T>C (p.Ile803Thr)
c.2390T>C (p.Ile797Thr)
c.2327T>C (p.Ile776Thr)
11g.47337695A>TCA380318594MYBPC3c.2408T>A (p.Ile803Asn)
c.2390T>A (p.Ile797Asn)
c.2327T>A (p.Ile776Asn)
 ClinVar dbSNP
11g.47337696T>ACA380318596MYBPC3c.2407A>T (p.Ile803Phe)
c.2389A>T (p.Ile797Phe)
c.2326A>T (p.Ile776Phe)
11g.47337696T>CCA380318598MYBPC3c.2407A>G (p.Ile803Val)
c.2389A>G (p.Ile797Val)
c.2326A>G (p.Ile776Val)
 gnomAD v4
11g.47337696T>GCA380318600MYBPC3c.2407A>C (p.Ile803Leu)
c.2389A>C (p.Ile797Leu)
c.2326A>C (p.Ile776Leu)
11g.47337697G>ACA474429378MYBPC3c.2406C>T (p.Pro802=)
c.2388C>T (p.Pro796=)
c.2325C>T (p.Pro775=)
 ClinVar
11g.47337697G>CCA474429379MYBPC3c.2406C>G (p.Pro802=)
c.2388C>G (p.Pro796=)
c.2325C>G (p.Pro775=)
11g.47337697G>TCA049578MYBPC3c.2406C>A (p.Pro802=)
c.2388C>A (p.Pro796=)
c.2325C>A (p.Pro775=)
 gnomAD v4
11g.47337699delCA2574816033MYBPC3c.2406del (p.Ile803SerfsTer19)
c.2406del (p.Ile803SerfsTer?)
c.2388del (p.Ile797SerfsTer19)
c.2325del (p.Ile776SerfsTer19)
11g.47337698G>ACA380318602MYBPC3c.2405C>T (p.Pro802Leu)
c.2387C>T (p.Pro796Leu)
c.2324C>T (p.Pro775Leu)
11g.47337698G>CCA380318606MYBPC3c.2405C>G (p.Pro802Arg)
c.2387C>G (p.Pro796Arg)
c.2324C>G (p.Pro775Arg)
11g.47337698G>TCA380318604MYBPC3c.2405C>A (p.Pro802His)
c.2387C>A (p.Pro796His)
c.2324C>A (p.Pro775His)
11g.47337698_47337699insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCCCA049813MYBPC3c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer36)
c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer?)
c.2386_2387insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro796ArgfsTer36)
c.2323_2324insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro775ArgfsTer36)
11g.47337699G>ACA380318608MYBPC3c.2404C>T (p.Pro802Ser)
c.2386C>T (p.Pro796Ser)
c.2323C>T (p.Pro775Ser)
 gnomAD v4
11g.47337699G>CCA380318611MYBPC3c.2404C>G (p.Pro802Ala)
c.2386C>G (p.Pro796Ala)
c.2323C>G (p.Pro775Ala)
11g.47337699G=CA1969331567MYBPC3c.2404C= (p.Pro802=)
c.2386C= (p.Pro796=)
c.2323C= (p.Pro775=)
11g.47337699G>TCA380318610MYBPC3c.2404C>A (p.Pro802Thr)
c.2386C>A (p.Pro796Thr)
c.2323C>A (p.Pro775Thr)
 ClinVar dbSNP gnomAD v2
11g.47337700C>ACA380318613MYBPC3c.2403G>T (p.Gln801His)
c.2385G>T (p.Gln795His)
c.2322G>T (p.Gln774His)
 gnomAD v4
11g.47337700C=CA1969331568MYBPC3c.2403G= (p.Gln801=)
c.2385G= (p.Gln795=)
c.2322G= (p.Gln774=)
11g.47337700C>GCA380318614MYBPC3c.2403G>C (p.Gln801His)
c.2385G>C (p.Gln795His)
c.2322G>C (p.Gln774His)
 dbSNP
11g.47337700C>TCA474429380MYBPC3c.2403G>A (p.Gln801=)
c.2385G>A (p.Gln795=)
c.2322G>A (p.Gln774=)
 gnomAD v4
11g.47337701T>ACA380318616MYBPC3c.2402A>T (p.Gln801Leu)
c.2384A>T (p.Gln795Leu)
c.2321A>T (p.Gln774Leu)
11g.47337701T>CCA380318619MYBPC3c.2402A>G (p.Gln801Arg)
c.2384A>G (p.Gln795Arg)
c.2321A>G (p.Gln774Arg)
 dbSNP gnomAD v2
11g.47337701T>GCA380318617MYBPC3c.2402A>C (p.Gln801Pro)
c.2384A>C (p.Gln795Pro)
c.2321A>C (p.Gln774Pro)
11g.47337701T=CA1969331569MYBPC3c.2402A= (p.Gln801=)
c.2384A= (p.Gln795=)
c.2321A= (p.Gln774=)
11g.47337702G>ACA380318621MYBPC3c.2401C>T (p.Gln801Ter)
c.2383C>T (p.Gln795Ter)
c.2320C>T (p.Gln774Ter)
11g.47337702G>CCA380318625MYBPC3c.2401C>G (p.Gln801Glu)
c.2383C>G (p.Gln795Glu)
c.2320C>G (p.Gln774Glu)
 gnomAD v4
11g.47337702G>TCA380318623MYBPC3c.2401C>A (p.Gln801Lys)
c.2383C>A (p.Gln795Lys)
c.2320C>A (p.Gln774Lys)
11g.47337703C>ACA474429381MYBPC3c.2400G>T (p.Gly800=)
c.2382G>T (p.Gly794=)
c.2319G>T (p.Gly773=)
11g.47337703C>GCA474429382MYBPC3c.2400G>C (p.Gly800=)
c.2382G>C (p.Gly794=)
c.2319G>C (p.Gly773=)
 gnomAD v4
11g.47337703C>TCA474429383MYBPC3c.2400G>A (p.Gly800=)
c.2382G>A (p.Gly794=)
c.2319G>A (p.Gly773=)
11g.47337704C>ACA380318627MYBPC3c.2399G>T (p.Gly800Val)
c.2381G>T (p.Gly794Val)
c.2318G>T (p.Gly773Val)
 ClinVar dbSNP gnomAD v4
11g.47337704C=CA1969331570MYBPC3c.2399G= (p.Gly800=)
c.2381G= (p.Gly794=)
c.2318G= (p.Gly773=)
11g.47337704C>GCA380318629MYBPC3c.2399G>C (p.Gly800Ala)
c.2381G>C (p.Gly794Ala)
c.2318G>C (p.Gly773Ala)
11g.47337704C>TCA380318631MYBPC3c.2399G>A (p.Gly800Glu)
c.2381G>A (p.Gly794Glu)
c.2318G>A (p.Gly773Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47337705C>ACA380318633MYBPC3c.2398G>T (p.Gly800Trp)
c.2380G>T (p.Gly794Trp)
c.2317G>T (p.Gly773Trp)
 gnomAD v4
11g.47337705C=CA1969331571MYBPC3c.2398G= (p.Gly800=)
c.2380G= (p.Gly794=)
c.2317G= (p.Gly773=)
11g.47337705C>GCA380318635MYBPC3c.2398G>C (p.Gly800Arg)
c.2380G>C (p.Gly794Arg)
c.2317G>C (p.Gly773Arg)
11g.47337705C>TCA012214MYBPC3c.2398G>A (p.Gly800Arg)
c.2380G>A (p.Gly794Arg)
c.2317G>A (p.Gly773Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337706G>ACA078681MYBPC3c.2397C>T (p.Gly799=)
c.2379C>T (p.Gly793=)
c.2316C>T (p.Gly772=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337706G>CCA474215832MYBPC3c.2397C>G (p.Gly799=)
c.2379C>G (p.Gly793=)
c.2316C>G (p.Gly772=)
11g.47337706G=CA1969331572MYBPC3c.2397C= (p.Gly799=)
c.2379C= (p.Gly793=)
c.2316C= (p.Gly772=)
11g.47337706G>TCA474215837MYBPC3c.2397C>A (p.Gly799=)
c.2379C>A (p.Gly793=)
c.2316C>A (p.Gly772=)
11g.47337707C>ACA380318642MYBPC3c.2396G>T (p.Gly799Val)
c.2378G>T (p.Gly793Val)
c.2315G>T (p.Gly772Val)
 gnomAD v4
11g.47337707C=CA1969331573MYBPC3c.2396G= (p.Gly799=)
c.2378G= (p.Gly793=)
c.2315G= (p.Gly772=)
11g.47337707C>GCA380318644MYBPC3c.2396G>C (p.Gly799Ala)
c.2378G>C (p.Gly793Ala)
c.2315G>C (p.Gly772Ala)
11g.47337707C>TCA380318646MYBPC3c.2396G>A (p.Gly799Asp)
c.2378G>A (p.Gly793Asp)
c.2315G>A (p.Gly772Asp)
 ClinVar dbSNP
11g.47337708C>ACA380318648MYBPC3c.2395G>T (p.Gly799Cys)
c.2377G>T (p.Gly793Cys)
c.2314G>T (p.Gly772Cys)
11g.47337708C=CA1969331574MYBPC3c.2395G= (p.Gly799=)
c.2377G= (p.Gly793=)
c.2314G= (p.Gly772=)
11g.47337708C>GCA380318650MYBPC3c.2395G>C (p.Gly799Arg)
c.2377G>C (p.Gly793Arg)
c.2314G>C (p.Gly772Arg)
11g.47337708C>TCA049565MYBPC3c.2395G>A (p.Gly799Ser)
c.2377G>A (p.Gly793Ser)
c.2314G>A (p.Gly772Ser)
11g.47337709A=CA1969331575MYBPC3c.2394T= (p.Asp798=)
c.2376T= (p.Asp792=)
c.2313T= (p.Asp771=)
11g.47337709A>CCA380318654MYBPC3c.2394T>G (p.Asp798Glu)
c.2376T>G (p.Asp792Glu)
c.2313T>G (p.Asp771Glu)
11g.47337709A>GCA221688892MYBPC3c.2394T>C (p.Asp798=)
c.2376T>C (p.Asp792=)
c.2313T>C (p.Asp771=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337709A>TCA380318652MYBPC3c.2394T>A (p.Asp798Glu)
c.2376T>A (p.Asp792Glu)
c.2313T>A (p.Asp771Glu)
 gnomAD v4
11g.47337709dupCA012205MYBPC3c.2394dup (p.Gly799TrpfsTer?)
c.2394dup (p.Gly799TrpfsTer9)
c.2376dup (p.Gly793TrpfsTer?)
c.2313dup (p.Gly772TrpfsTer?)
 ClinVar dbSNP
11g.47337710T>ACA380318656MYBPC3c.2393A>T (p.Asp798Val)
c.2375A>T (p.Asp792Val)
c.2312A>T (p.Asp771Val)
11g.47337710T>CCA380318658MYBPC3c.2393A>G (p.Asp798Gly)
c.2375A>G (p.Asp792Gly)
c.2312A>G (p.Asp771Gly)
11g.47337710T>GCA380318660MYBPC3c.2393A>C (p.Asp798Ala)
c.2375A>C (p.Asp792Ala)
c.2312A>C (p.Asp771Ala)
11g.47337711C>ACA380318662MYBPC3c.2392G>T (p.Asp798Tyr)
c.2374G>T (p.Asp792Tyr)
c.2311G>T (p.Asp771Tyr)
 gnomAD v4
11g.47337711C=CA1969331576MYBPC3c.2392G= (p.Asp798=)
c.2374G= (p.Asp792=)
c.2311G= (p.Asp771=)
11g.47337711C>GCA380318664MYBPC3c.2392G>C (p.Asp798His)
c.2374G>C (p.Asp792His)
c.2311G>C (p.Asp771His)
11g.47337711C>TCA078678MYBPC3c.2392G>A (p.Asp798Asn)
c.2374G>A (p.Asp792Asn)
c.2311G>A (p.Asp771Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337712G>ACA078676MYBPC3c.2391C>T (p.Tyr797=)
c.2373C>T (p.Tyr791=)
c.2310C>T (p.Tyr770=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337712G>CCA380318667MYBPC3c.2391C>G (p.Tyr797Ter)
c.2373C>G (p.Tyr791Ter)
c.2310C>G (p.Tyr770Ter)
 ClinVar dbSNP
11g.47337712G=CA1969331577MYBPC3c.2391C= (p.Tyr797=)
c.2373C= (p.Tyr791=)
c.2310C= (p.Tyr770=)
11g.47337712G>TCA012195MYBPC3c.2391C>A (p.Tyr797Ter)
c.2373C>A (p.Tyr791Ter)
c.2310C>A (p.Tyr770Ter)
 ClinVar dbSNP gnomAD v4
11g.47337713T>ACA380318672MYBPC3c.2390A>T (p.Tyr797Phe)
c.2372A>T (p.Tyr791Phe)
c.2309A>T (p.Tyr770Phe)
11g.47337713T>CCA380318671MYBPC3c.2390A>G (p.Tyr797Cys)
c.2372A>G (p.Tyr791Cys)
c.2309A>G (p.Tyr770Cys)
 ClinVar gnomAD v4
11g.47337713T>GCA380318670MYBPC3c.2390A>C (p.Tyr797Ser)
c.2372A>C (p.Tyr791Ser)
c.2309A>C (p.Tyr770Ser)
11g.47337714A>CCA380318674MYBPC3c.2389T>G (p.Tyr797Asp)
c.2371T>G (p.Tyr791Asp)
c.2308T>G (p.Tyr770Asp)
11g.47337714A>GCA380318676MYBPC3c.2389T>C (p.Tyr797His)
c.2371T>C (p.Tyr791His)
c.2308T>C (p.Tyr770His)
11g.47337714A>TCA380318678MYBPC3c.2389T>A (p.Tyr797Asn)
c.2371T>A (p.Tyr791Asn)
c.2308T>A (p.Tyr770Asn)
11g.47337715G>ACA049499MYBPC3c.2388C>T (p.Ala796=)
c.2370C>T (p.Ala790=)
c.2307C>T (p.Ala769=)
 gnomAD v4
11g.47337715G>CCA474215938MYBPC3c.2388C>G (p.Ala796=)
c.2370C>G (p.Ala790=)
c.2307C>G (p.Ala769=)
11g.47337715G>TCA474215955MYBPC3c.2388C>A (p.Ala796=)
c.2370C>A (p.Ala790=)
c.2307C>A (p.Ala769=)
11g.47337716G>ACA380318680MYBPC3c.2387C>T (p.Ala796Val)
c.2369C>T (p.Ala790Val)
c.2306C>T (p.Ala769Val)
 gnomAD v4
11g.47337716G>CCA380318682MYBPC3c.2387C>G (p.Ala796Gly)
c.2369C>G (p.Ala790Gly)
c.2306C>G (p.Ala769Gly)
11g.47337716G>TCA380318684MYBPC3c.2387C>A (p.Ala796Asp)
c.2369C>A (p.Ala790Asp)
c.2306C>A (p.Ala769Asp)
 gnomAD v4
11g.47337717C>ACA380318686MYBPC3c.2386G>T (p.Ala796Ser)
c.2368G>T (p.Ala790Ser)
c.2305G>T (p.Ala769Ser)
 gnomAD v4
11g.47337717C>GCA380318688MYBPC3c.2386G>C (p.Ala796Pro)
c.2368G>C (p.Ala790Pro)
c.2305G>C (p.Ala769Pro)
11g.47337717C>TCA380318689MYBPC3c.2386G>A (p.Ala796Thr)
c.2368G>A (p.Ala790Thr)
c.2305G>A (p.Ala769Thr)
11g.47337718A>CCA474215966MYBPC3c.2385T>G (p.Pro795=)
c.2367T>G (p.Pro789=)
c.2304T>G (p.Pro768=)
11g.47337718A>GCA474215963MYBPC3c.2385T>C (p.Pro795=)
c.2367T>C (p.Pro789=)
c.2304T>C (p.Pro768=)
 gnomAD v4
11g.47337718A>TCA474215961MYBPC3c.2385T>A (p.Pro795=)
c.2367T>A (p.Pro789=)
c.2304T>A (p.Pro768=)
11g.47337719G>ACA380318692MYBPC3c.2384C>T (p.Pro795Leu)
c.2366C>T (p.Pro789Leu)
c.2303C>T (p.Pro768Leu)
11g.47337719G>CCA380318694MYBPC3c.2384C>G (p.Pro795Arg)
c.2366C>G (p.Pro789Arg)
c.2303C>G (p.Pro768Arg)
11g.47337719G>TCA380318695MYBPC3c.2384C>A (p.Pro795His)
c.2366C>A (p.Pro789His)
c.2303C>A (p.Pro768His)
 gnomAD v4
11g.47337720G>ACA380318698MYBPC3c.2383C>T (p.Pro795Ser)
c.2365C>T (p.Pro789Ser)
c.2302C>T (p.Pro768Ser)
 gnomAD v4
11g.47337720G>CCA380318696MYBPC3c.2383C>G (p.Pro795Ala)
c.2365C>G (p.Pro789Ala)
c.2302C>G (p.Pro768Ala)
11g.47337720G=CA1969331579MYBPC3c.2383C= (p.Pro795=)
c.2365C= (p.Pro789=)
c.2302C= (p.Pro768=)
11g.47337720G>TCA380318697MYBPC3c.2383C>A (p.Pro795Thr)
c.2365C>A (p.Pro789Thr)
c.2302C>A (p.Pro768Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.47337720_47337721delinsGCCA1969331578MYBPC3c.2382_2383delinsGC (p.Pro794=)
c.2364_2365delinsGC (p.Pro788=)
c.2301_2302delinsGC (p.Pro767=)
11g.47337720_47337727delCA2695212763MYBPC3c.2376_2383del (p.Trp792CysfsTer?)
c.2376_2383del (p.Trp792CysfsTer13)
c.2358_2365del (p.Trp786CysfsTer?)
c.2295_2302del (p.Trp765CysfsTer?)
11g.47337721delCA012182MYBPC3c.2382del (p.Pro795LeufsTer27)
c.2382del (p.Pro795LeufsTer?)
c.2364del (p.Pro789LeufsTer27)
c.2301del (p.Pro768LeufsTer27)
 ClinVar dbSNP
11g.47337721C>ACA474216020MYBPC3c.2382G>T (p.Pro794=)
c.2364G>T (p.Pro788=)
c.2301G>T (p.Pro767=)
 gnomAD v4
11g.47337721C=CA1969331580MYBPC3c.2382G= (p.Pro794=)
c.2364G= (p.Pro788=)
c.2301G= (p.Pro767=)
11g.47337721C>GCA474215992MYBPC3c.2382G>C (p.Pro794=)
c.2364G>C (p.Pro788=)
c.2301G>C (p.Pro767=)
11g.47337721C>TCA474216016MYBPC3c.2382G>A (p.Pro794=)
c.2364G>A (p.Pro788=)
c.2301G>A (p.Pro767=)
 ClinVar dbSNP gnomAD v4
11g.47337722G>ACA012173MYBPC3c.2381C>T (p.Pro794Leu)
c.2363C>T (p.Pro788Leu)
c.2300C>T (p.Pro767Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337722G>CCA380318702MYBPC3c.2381C>G (p.Pro794Arg)
c.2363C>G (p.Pro788Arg)
c.2300C>G (p.Pro767Arg)
11g.47337722G=CA1969331581MYBPC3c.2381C= (p.Pro794=)
c.2363C= (p.Pro788=)
c.2300C= (p.Pro767=)
11g.47337722G>TCA380318703MYBPC3c.2381C>A (p.Pro794Gln)
c.2363C>A (p.Pro788Gln)
c.2300C>A (p.Pro767Gln)
 gnomAD v4
11g.47337723G>ACA380318706MYBPC3c.2380C>T (p.Pro794Ser)
c.2362C>T (p.Pro788Ser)
c.2299C>T (p.Pro767Ser)
 gnomAD v4
11g.47337723G>CCA380318708MYBPC3c.2380C>G (p.Pro794Ala)
c.2362C>G (p.Pro788Ala)
c.2299C>G (p.Pro767Ala)
11g.47337723G=CA1969331582MYBPC3c.2380C= (p.Pro794=)
c.2362C= (p.Pro788=)
c.2299C= (p.Pro767=)
11g.47337723G>TCA380318710MYBPC3c.2380C>A (p.Pro794Thr)
c.2362C>A (p.Pro788Thr)
c.2299C>A (p.Pro767Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47337724C>ACA380318712MYBPC3c.2379G>T (p.Glu793Asp)
c.2361G>T (p.Glu787Asp)
c.2298G>T (p.Glu766Asp)
11g.47337724C=CA1969331583MYBPC3c.2379G= (p.Glu793=)
c.2361G= (p.Glu787=)
c.2298G= (p.Glu766=)
11g.47337724C>GCA380318714MYBPC3c.2379G>C (p.Glu793Asp)
c.2361G>C (p.Glu787Asp)
c.2298G>C (p.Glu766Asp)
11g.47337724C>TCA474216028MYBPC3c.2379G>A (p.Glu793=)
c.2361G>A (p.Glu787=)
c.2298G>A (p.Glu766=)
 dbSNP gnomAD v3 gnomAD v4
11g.47337725T>ACA380318716MYBPC3c.2378A>T (p.Glu793Val)
c.2360A>T (p.Glu787Val)
c.2297A>T (p.Glu766Val)
11g.47337725T>CCA380318718MYBPC3c.2378A>G (p.Glu793Gly)
c.2360A>G (p.Glu787Gly)
c.2297A>G (p.Glu766Gly)
11g.47337725T>GCA380318720MYBPC3c.2378A>C (p.Glu793Ala)
c.2360A>C (p.Glu787Ala)
c.2297A>C (p.Glu766Ala)
 dbSNP
11g.47337725T=CA1969331584MYBPC3c.2378A= (p.Glu793=)
c.2360A= (p.Glu787=)
c.2297A= (p.Glu766=)
11g.47337726C>ACA380318727MYBPC3c.2377G>T (p.Glu793Ter)
c.2359G>T (p.Glu787Ter)
c.2296G>T (p.Glu766Ter)
 gnomAD v4
11g.47337726C=CA1969331585MYBPC3c.2377G= (p.Glu793=)
c.2359G= (p.Glu787=)
c.2296G= (p.Glu766=)
11g.47337726C>GCA078671MYBPC3c.2377G>C (p.Glu793Gln)
c.2359G>C (p.Glu787Gln)
c.2296G>C (p.Glu766Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337726C>TCA380318722MYBPC3c.2377G>A (p.Glu793Lys)
c.2359G>A (p.Glu787Lys)
c.2296G>A (p.Glu766Lys)
 gnomAD v4
11g.47337728dupCA891842473MYBPC3c.2377dup (p.Glu793GlyfsTer?)
c.2377dup (p.Glu793GlyfsTer15)
c.2359dup (p.Glu787GlyfsTer?)
c.2296dup (p.Glu766GlyfsTer?)
 ClinVar dbSNP

Number of alleles fetched