Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332011A=CA1969333126MYBPC3c.3814+61T= (n.3814+61T=)
c.3796+61T= (n.3796+61T=)
c.3733+61T= (n.3733+61T=)
11g.47332011A>CCA1969333125MYBPC3c.3814+61T>G (n.3814+61T>G)
c.3796+61T>G (n.3796+61T>G)
c.3733+61T>G (n.3733+61T>G)
dbSNP
11g.47332011A>GCA1969333124MYBPC3c.3814+61T>C (n.3814+61T>C)
c.3796+61T>C (n.3796+61T>C)
c.3733+61T>C (n.3733+61T>C)
dbSNP gnomAD v4
11g.47332011A>TCA937665097MYBPC3c.3814+61T>A (n.3814+61T>A)
c.3796+61T>A (n.3796+61T>A)
c.3733+61T>A (n.3733+61T>A)
dbSNP gnomAD v3 gnomAD v4
11g.47332012G>CCA1969333128MYBPC3c.3814+60C>G (n.3814+60C>G)
c.3796+60C>G (n.3796+60C>G)
c.3733+60C>G (n.3733+60C>G)
dbSNP gnomAD v4
11g.47332012G=CA1969333129MYBPC3c.3814+60C= (n.3814+60C=)
c.3796+60C= (n.3796+60C=)
c.3733+60C= (n.3733+60C=)
11g.47332014G>ACA2613355608MYBPC3c.3814+58C>T (n.3814+58C>T)
c.3796+58C>T (n.3796+58C>T)
c.3733+58C>T (n.3733+58C>T)
gnomAD v4
11g.47332014G=CA1969333130MYBPC3c.3814+58C= (n.3814+58C=)
c.3796+58C= (n.3796+58C=)
c.3733+58C= (n.3733+58C=)
11g.47332014G>TCA1969333131MYBPC3c.3814+58C>A (n.3814+58C>A)
c.3796+58C>A (n.3796+58C>A)
c.3733+58C>A (n.3733+58C>A)
dbSNP gnomAD v4
11g.47332015delCA2613355609MYBPC3c.3814+57del (n.3814+57del)
c.3796+57del (n.3796+57del)
c.3733+57del (n.3733+57del)
gnomAD v4
11g.47332016C=CA1969333133MYBPC3c.3814+56G= (n.3814+56G=)
c.3796+56G= (n.3796+56G=)
c.3733+56G= (n.3733+56G=)
11g.47332016C>GCA221679721MYBPC3c.3814+56G>C (n.3814+56G>C)
c.3796+56G>C (n.3796+56G>C)
c.3733+56G>C (n.3733+56G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332016C>TCA221679724MYBPC3c.3814+56G>A (n.3814+56G>A)
c.3796+56G>A (n.3796+56G>A)
c.3733+56G>A (n.3733+56G>A)
dbSNP
11g.47332017C>GCA2613355610MYBPC3c.3814+55G>C (n.3814+55G>C)
c.3796+55G>C (n.3796+55G>C)
c.3733+55G>C (n.3733+55G>C)
gnomAD v4
11g.47332017C>TCA2574815590MYBPC3c.3814+55G>A (n.3814+55G>A)
c.3796+55G>A (n.3796+55G>A)
c.3733+55G>A (n.3733+55G>A)
gnomAD v4
11g.47332018C>TCA2613355611MYBPC3c.3814+54G>A (n.3814+54G>A)
c.3796+54G>A (n.3796+54G>A)
c.3733+54G>A (n.3733+54G>A)
gnomAD v4
11g.47332018_47332019insAACAACCACCCAAACACACCCAACACA2791331517MYBPC3c.3814+53_3814+54insTGTTGGGTGTGTTTGGGTGGTTGTT (n.3814+53_3814+54insTGTTGGGTGTGTTTGGGTGGTTGTT)
c.3796+53_3796+54insTGTTGGGTGTGTTTGGGTGGTTGTT (n.3796+53_3796+54insTGTTGGGTGTGTTTGGGTGGTTGTT)
c.3733+53_3733+54insTGTTGGGTGTGTTTGGGTGGTTGTT (n.3733+53_3733+54insTGTTGGGTGTGTTTGGGTGGTTGTT)
11g.47332019C>TCA2613355613MYBPC3c.3814+53G>A (n.3814+53G>A)
c.3796+53G>A (n.3796+53G>A)
c.3733+53G>A (n.3733+53G>A)
gnomAD v4
11g.47332021C>ACA677012915MYBPC3c.3814+51G>T (n.3814+51G>T)
c.3796+51G>T (n.3796+51G>T)
c.3733+51G>T (n.3733+51G>T)
dbSNP gnomAD v4
11g.47332021C=CA1969333135MYBPC3c.3814+51G= (n.3814+51G=)
c.3796+51G= (n.3796+51G=)
c.3733+51G= (n.3733+51G=)
11g.47332021C>GCA2613355615MYBPC3c.3814+51G>C (n.3814+51G>C)
c.3796+51G>C (n.3796+51G>C)
c.3733+51G>C (n.3733+51G>C)
gnomAD v4
11g.47332023G>ACA1969333137MYBPC3c.3814+49C>T (n.3814+49C>T)
c.3796+49C>T (n.3796+49C>T)
c.3733+49C>T (n.3733+49C>T)
dbSNP gnomAD v4
11g.47332023G=CA1969333136MYBPC3c.3814+49C= (n.3814+49C=)
c.3796+49C= (n.3796+49C=)
c.3733+49C= (n.3733+49C=)
11g.47332024C=CA1969333138MYBPC3c.3814+48G= (n.3814+48G=)
c.3796+48G= (n.3796+48G=)
c.3733+48G= (n.3733+48G=)
11g.47332024C>GCA221679744MYBPC3c.3814+48G>C (n.3814+48G>C)
c.3796+48G>C (n.3796+48G>C)
c.3733+48G>C (n.3733+48G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332024C>TCA221679750MYBPC3c.3814+48G>A (n.3814+48G>A)
c.3796+48G>A (n.3796+48G>A)
c.3733+48G>A (n.3733+48G>A)
dbSNP gnomAD v4
11g.47332025C=CA1969333140MYBPC3c.3814+47G= (n.3814+47G=)
c.3796+47G= (n.3796+47G=)
c.3733+47G= (n.3733+47G=)
11g.47332025C>TCA677012919MYBPC3c.3814+47G>A (n.3814+47G>A)
c.3796+47G>A (n.3796+47G>A)
c.3733+47G>A (n.3733+47G>A)
dbSNP gnomAD v3 gnomAD v4
11g.47332026G>ACA079573MYBPC3c.3814+46C>T (n.3814+46C>T)
c.3796+46C>T (n.3796+46C>T)
c.3733+46C>T (n.3733+46C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332026G=CA1969333141MYBPC3c.3814+46C= (n.3814+46C=)
c.3796+46C= (n.3796+46C=)
c.3733+46C= (n.3733+46C=)
11g.47332026G>TCA079572MYBPC3c.3814+46C>A (n.3814+46C>A)
c.3796+46C>A (n.3796+46C>A)
c.3733+46C>A (n.3733+46C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332027C=CA1969333143MYBPC3c.3814+45G= (n.3814+45G=)
c.3796+45G= (n.3796+45G=)
c.3733+45G= (n.3733+45G=)
11g.47332027C>GCA2613355626MYBPC3c.3814+45G>C (n.3814+45G>C)
c.3796+45G>C (n.3796+45G>C)
c.3733+45G>C (n.3733+45G>C)
gnomAD v4
11g.47332027C>TCA677012924MYBPC3c.3814+45G>A (n.3814+45G>A)
c.3796+45G>A (n.3796+45G>A)
c.3733+45G>A (n.3733+45G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332029delCA2613355625MYBPC3c.3814+45del (n.3814+45del)
c.3796+45del (n.3796+45del)
c.3733+45del (n.3733+45del)
gnomAD v4
11g.47332028C=CA1969333145MYBPC3c.3814+44G= (n.3814+44G=)
c.3796+44G= (n.3796+44G=)
c.3733+44G= (n.3733+44G=)
11g.47332028C>TCA677012925MYBPC3c.3814+44G>A (n.3814+44G>A)
c.3796+44G>A (n.3796+44G>A)
c.3733+44G>A (n.3733+44G>A)
dbSNP gnomAD v3 gnomAD v4
11g.47332029C>ACA055133MYBPC3c.3814+43G>T (n.3814+43G>T)
c.3796+43G>T (n.3796+43G>T)
c.3733+43G>T (n.3733+43G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332029C=CA1969333147MYBPC3c.3814+43G= (n.3814+43G=)
c.3796+43G= (n.3796+43G=)
c.3733+43G= (n.3733+43G=)
11g.47332029C>TCA055119MYBPC3c.3814+43G>A (n.3814+43G>A)
c.3796+43G>A (n.3796+43G>A)
c.3733+43G>A (n.3733+43G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332030G>ACA079566MYBPC3c.3814+42C>T (n.3814+42C>T)
c.3796+42C>T (n.3796+42C>T)
c.3733+42C>T (n.3733+42C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332030G>CCA599057719MYBPC3c.3814+42C>G (n.3814+42C>G)
c.3796+42C>G (n.3796+42C>G)
c.3733+42C>G (n.3733+42C>G)
dbSNP gnomAD v2 gnomAD v4
11g.47332030G=CA1969333148MYBPC3c.3814+42C= (n.3814+42C=)
c.3796+42C= (n.3796+42C=)
c.3733+42C= (n.3733+42C=)
11g.47332033C>ACA2613355633MYBPC3c.3814+39G>T (n.3814+39G>T)
c.3796+39G>T (n.3796+39G>T)
c.3733+39G>T (n.3733+39G>T)
gnomAD v4
11g.47332033C>TCA2613355634MYBPC3c.3814+39G>A (n.3814+39G>A)
c.3796+39G>A (n.3796+39G>A)
c.3733+39G>A (n.3733+39G>A)
gnomAD v4
11g.47332034_47332035delCA2791331527MYBPC3c.3814+37_3814+38del (n.3814+37_3814+38del)
c.3796+37_3796+38del (n.3796+37_3796+38del)
c.3733+37_3733+38del (n.3733+37_3733+38del)
11g.47332035T>ACA2613355635MYBPC3c.3814+37A>T (n.3814+37A>T)
c.3796+37A>T (n.3796+37A>T)
c.3733+37A>T (n.3733+37A>T)
gnomAD v4
11g.47332035T>CCA2791331531MYBPC3c.3814+37A>G (n.3814+37A>G)
c.3796+37A>G (n.3796+37A>G)
c.3733+37A>G (n.3733+37A>G)
11g.47332035T>GCA2574815595MYBPC3c.3814+37A>C (n.3814+37A>C)
c.3796+37A>C (n.3796+37A>C)
c.3733+37A>C (n.3733+37A>C)
11g.47332035_47332036delinsTCCA1969333150MYBPC3c.3814+36_3814+37delinsGA (n.3814+36_3814+37delinsGA)
c.3796+36_3796+37delinsGA (n.3796+36_3796+37delinsGA)
c.3733+36_3733+37delinsGA (n.3733+36_3733+37delinsGA)
11g.47332036C=CA1969333151MYBPC3c.3814+36G= (n.3814+36G=)
c.3796+36G= (n.3796+36G=)
c.3733+36G= (n.3733+36G=)
11g.47332036C>TCA1969333152MYBPC3c.3814+36G>A (n.3814+36G>A)
c.3796+36G>A (n.3796+36G>A)
c.3733+36G>A (n.3733+36G>A)
dbSNP
11g.47332038dupCA5975356MYBPC3c.3814+36dup (n.3814+36dup)
c.3796+36dup (n.3796+36dup)
c.3733+36dup (n.3733+36dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332038delCA599057720MYBPC3c.3814+36del (n.3814+36del)
c.3796+36del (n.3796+36del)
c.3733+36del (n.3733+36del)
dbSNP gnomAD v2 gnomAD v4
11g.47332037C=CA1969333154MYBPC3c.3814+35G= (n.3814+35G=)
c.3796+35G= (n.3796+35G=)
c.3733+35G= (n.3733+35G=)
11g.47332037C>TCA1969333155MYBPC3c.3814+35G>A (n.3814+35G>A)
c.3796+35G>A (n.3796+35G>A)
c.3733+35G>A (n.3733+35G>A)
dbSNP gnomAD v4
11g.47332038C>ACA2613355638MYBPC3c.3814+34G>T (n.3814+34G>T)
c.3796+34G>T (n.3796+34G>T)
c.3733+34G>T (n.3733+34G>T)
gnomAD v4
11g.47332039A>CCA2791331533MYBPC3c.3814+33T>G (n.3814+33T>G)
c.3796+33T>G (n.3796+33T>G)
c.3733+33T>G (n.3733+33T>G)
11g.47332039A>GCA2613355640MYBPC3c.3814+33T>C (n.3814+33T>C)
c.3796+33T>C (n.3796+33T>C)
c.3733+33T>C (n.3733+33T>C)
gnomAD v4
11g.47332040T>CCA2613355641MYBPC3c.3814+32A>G (n.3814+32A>G)
c.3796+32A>G (n.3796+32A>G)
c.3733+32A>G (n.3733+32A>G)
gnomAD v4
11g.47332041C>ACA2613355643MYBPC3c.3814+31G>T (n.3814+31G>T)
c.3796+31G>T (n.3796+31G>T)
c.3733+31G>T (n.3733+31G>T)
gnomAD v4
11g.47332041C=CA1969333156MYBPC3c.3814+31G= (n.3814+31G=)
c.3796+31G= (n.3796+31G=)
c.3733+31G= (n.3733+31G=)
11g.47332041C>TCA677012931MYBPC3c.3814+31G>A (n.3814+31G>A)
c.3796+31G>A (n.3796+31G>A)
c.3733+31G>A (n.3733+31G>A)
dbSNP gnomAD v4
11g.47332042T>ACA079565MYBPC3c.3814+30A>T (n.3814+30A>T)
c.3796+30A>T (n.3796+30A>T)
c.3733+30A>T (n.3733+30A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332042T>CCA2791331534MYBPC3c.3814+30A>G (n.3814+30A>G)
c.3796+30A>G (n.3796+30A>G)
c.3733+30A>G (n.3733+30A>G)
11g.47332042T=CA1969333158MYBPC3c.3814+30A= (n.3814+30A=)
c.3796+30A= (n.3796+30A=)
c.3733+30A= (n.3733+30A=)
11g.47332043C>ACA221679782MYBPC3c.3814+29G>T (n.3814+29G>T)
c.3796+29G>T (n.3796+29G>T)
c.3733+29G>T (n.3733+29G>T)
dbSNP
11g.47332043C=CA1969333161MYBPC3c.3814+29G= (n.3814+29G=)
c.3796+29G= (n.3796+29G=)
c.3733+29G= (n.3733+29G=)
11g.47332043C>GCA221679781MYBPC3c.3814+29G>C (n.3814+29G>C)
c.3796+29G>C (n.3796+29G>C)
c.3733+29G>C (n.3733+29G>C)
dbSNP gnomAD v3 gnomAD v4
11g.47332043C>TCA599057721MYBPC3c.3814+29G>A (n.3814+29G>A)
c.3796+29G>A (n.3796+29G>A)
c.3733+29G>A (n.3733+29G>A)
dbSNP gnomAD v2 gnomAD v4
11g.47332045C=CA1969333162MYBPC3c.3814+27G= (n.3814+27G=)
c.3796+27G= (n.3796+27G=)
c.3733+27G= (n.3733+27G=)
11g.47332045C>TCA079563MYBPC3c.3814+27G>A (n.3814+27G>A)
c.3796+27G>A (n.3796+27G>A)
c.3733+27G>A (n.3733+27G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332046A=CA1969333164MYBPC3c.3814+26T= (n.3814+26T=)
c.3796+26T= (n.3796+26T=)
c.3733+26T= (n.3733+26T=)
11g.47332046A>CCA677012936MYBPC3c.3814+26T>G (n.3814+26T>G)
c.3796+26T>G (n.3796+26T>G)
c.3733+26T>G (n.3733+26T>G)
dbSNP gnomAD v3 gnomAD v4
11g.47332046A>GCA2723751820MYBPC3c.3814+26T>C (n.3814+26T>C)
c.3796+26T>C (n.3796+26T>C)
c.3733+26T>C (n.3733+26T>C)
dbSNP
11g.47332049C>ACA2574815598MYBPC3c.3814+23G>T (n.3814+23G>T)
c.3796+23G>T (n.3796+23G>T)
c.3733+23G>T (n.3733+23G>T)
11g.47332049C=CA1969333165MYBPC3c.3814+23G= (n.3814+23G=)
c.3796+23G= (n.3796+23G=)
c.3733+23G= (n.3733+23G=)
11g.47332049C>TCA079561MYBPC3c.3814+23G>A (n.3814+23G>A)
c.3796+23G>A (n.3796+23G>A)
c.3733+23G>A (n.3733+23G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332052T=CA1969333166MYBPC3c.3814+20A= (n.3814+20A=)
c.3796+20A= (n.3796+20A=)
c.3733+20A= (n.3733+20A=)
11g.47332053G>CCA2574815602MYBPC3c.3814+19C>G (n.3814+19C>G)
c.3796+19C>G (n.3796+19C>G)
c.3733+19C>G (n.3733+19C>G)
gnomAD v4
11g.47332054dupCA221679795MYBPC3c.3814+19dup (n.3814+19dup)
c.3796+19dup (n.3796+19dup)
c.3733+19dup (n.3733+19dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332054G>ACA2613355653MYBPC3c.3814+18C>T (n.3814+18C>T)
c.3796+18C>T (n.3796+18C>T)
c.3733+18C>T (n.3733+18C>T)
gnomAD v4
11g.47332055C=CA1969333167MYBPC3c.3814+17G= (n.3814+17G=)
c.3796+17G= (n.3796+17G=)
c.3733+17G= (n.3733+17G=)
11g.47332055C>TCA1969333168MYBPC3c.3814+17G>A (n.3814+17G>A)
c.3796+17G>A (n.3796+17G>A)
c.3733+17G>A (n.3733+17G>A)
dbSNP
11g.47332055_47332056delinsTTCA2739270409MYBPC3c.3814+16_3814+17delinsAA (n.3814+16_3814+17delinsAA)
c.3796+16_3796+17delinsAA (n.3796+16_3796+17delinsAA)
c.3733+16_3733+17delinsAA (n.3733+16_3733+17delinsAA)
ClinVar
11g.47332056C=CA1969333170MYBPC3c.3814+16G= (n.3814+16G=)
c.3796+16G= (n.3796+16G=)
c.3733+16G= (n.3733+16G=)
11g.47332056C>GCA2518401337MYBPC3c.3814+16G>C (n.3814+16G>C)
c.3796+16G>C (n.3796+16G>C)
c.3733+16G>C (n.3733+16G>C)
11g.47332056C>TCA1969333171MYBPC3c.3814+16G>A (n.3814+16G>A)
c.3796+16G>A (n.3796+16G>A)
c.3733+16G>A (n.3733+16G>A)
dbSNP
11g.47332058C=CA1969333172MYBPC3c.3814+14G= (n.3814+14G=)
c.3796+14G= (n.3796+14G=)
c.3733+14G= (n.3733+14G=)
11g.47332058C>TCA014963MYBPC3c.3814+14G>A (n.3814+14G>A)
c.3796+14G>A (n.3796+14G>A)
c.3733+14G>A (n.3733+14G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332059delCA2613355669MYBPC3c.3814+13del (n.3814+13del)
c.3796+13del (n.3796+13del)
c.3733+13del (n.3733+13del)
gnomAD v4
11g.47332059G>ACA079559MYBPC3c.3814+13C>T (n.3814+13C>T)
c.3796+13C>T (n.3796+13C>T)
c.3733+13C>T (n.3733+13C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332059G=CA1969333175MYBPC3c.3814+13C= (n.3814+13C=)
c.3796+13C= (n.3796+13C=)
c.3733+13C= (n.3733+13C=)
11g.47332059G>TCA658797618MYBPC3c.3814+13C>A (n.3814+13C>A)
c.3796+13C>A (n.3796+13C>A)
c.3733+13C>A (n.3733+13C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332060A>CCA2613355670MYBPC3c.3814+12T>G (n.3814+12T>G)
c.3796+12T>G (n.3796+12T>G)
c.3733+12T>G (n.3733+12T>G)
gnomAD v4
11g.47332061G>ACA937665135MYBPC3c.3814+11C>T (n.3814+11C>T)
c.3796+11C>T (n.3796+11C>T)
c.3733+11C>T (n.3733+11C>T)
dbSNP gnomAD v3 gnomAD v4
11g.47332061G=CA1969333176MYBPC3c.3814+11C= (n.3814+11C=)
c.3796+11C= (n.3796+11C=)
c.3733+11C= (n.3733+11C=)
11g.47332062G>ACA055051MYBPC3c.3814+10C>T (n.3814+10C>T)
c.3796+10C>T (n.3796+10C>T)
c.3733+10C>T (n.3733+10C>T)
11g.47332063G=CA1969333177MYBPC3c.3814+9C= (n.3814+9C=)
c.3796+9C= (n.3796+9C=)
c.3733+9C= (n.3733+9C=)
11g.47332063G>TCA1969333178MYBPC3c.3814+9C>A (n.3814+9C>A)
c.3796+9C>A (n.3796+9C>A)
c.3733+9C>A (n.3733+9C>A)
dbSNP gnomAD v4
11g.47332064C>ACA2613355675MYBPC3c.3814+8G>T (n.3814+8G>T)
c.3796+8G>T (n.3796+8G>T)
c.3733+8G>T (n.3733+8G>T)
gnomAD v4
11g.47332064C=CA1969333180MYBPC3c.3814+8G= (n.3814+8G=)
c.3796+8G= (n.3796+8G=)
c.3733+8G= (n.3733+8G=)
11g.47332064C>TCA599057722MYBPC3c.3814+8G>A (n.3814+8G>A)
c.3796+8G>A (n.3796+8G>A)
c.3733+8G>A (n.3733+8G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332065T>ACA2613355677MYBPC3c.3814+7A>T (n.3814+7A>T)
c.3796+7A>T (n.3796+7A>T)
c.3733+7A>T (n.3733+7A>T)
gnomAD v4
11g.47332065T>CCA2613355678MYBPC3c.3814+7A>G (n.3814+7A>G)
c.3796+7A>G (n.3796+7A>G)
c.3733+7A>G (n.3733+7A>G)
gnomAD v4
11g.47332066_47332090delinsCCTCACCTCGCACCTCCAGGCGGCACA1969333181MYBPC3c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
c.3778_3796+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
c.3715_3733+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
11g.47332067C>TCA2613355680MYBPC3c.3814+5G>A (n.3814+5G>A)
c.3796+5G>A (n.3796+5G>A)
c.3733+5G>A (n.3733+5G>A)
gnomAD v4
11g.47332072_47332095delCA599057723MYBPC3c.3796_3814+5del
c.3778_3796+5del
c.3715_3733+5del
dbSNP gnomAD v2 gnomAD v4
11g.47332069C>TCA2739270410MYBPC3c.3814+3G>A (n.3814+3G>A)
c.3796+3G>A (n.3796+3G>A)
c.3733+3G>A (n.3733+3G>A)
ClinVar
11g.47332070A=CA1969333183MYBPC3c.3814+2T= (n.3814+2T=)
c.3796+2T= (n.3796+2T=)
c.3733+2T= (n.3733+2T=)
11g.47332070A>CCA380309516MYBPC3c.3814+2T>G (n.3814+2T>G)
c.3796+2T>G (n.3796+2T>G)
c.3733+2T>G (n.3733+2T>G)
11g.47332070A>GCA352023MYBPC3c.3814+2T>C (n.3814+2T>C)
c.3796+2T>C (n.3796+2T>C)
c.3733+2T>C (n.3733+2T>C)
ClinVar dbSNP
11g.47332070A>TCA380309520MYBPC3c.3814+2T>A (n.3814+2T>A)
c.3796+2T>A (n.3796+2T>A)
c.3733+2T>A (n.3733+2T>A)
11g.47332071C>ACA380309525MYBPC3c.3814+1G>T (n.3814+1G>T)
c.3796+1G>T (n.3796+1G>T)
c.3733+1G>T (n.3733+1G>T)
gnomAD v4
11g.47332071C=CA1969333186MYBPC3c.3814+1G= (n.3814+1G=)
c.3796+1G= (n.3796+1G=)
c.3733+1G= (n.3733+1G=)
11g.47332071C>GCA380309526MYBPC3c.3814+1G>C (n.3814+1G>C)
c.3796+1G>C (n.3796+1G>C)
c.3733+1G>C (n.3733+1G>C)
ClinVar dbSNP
11g.47332071C>TCA16606935MYBPC3c.3814+1G>A (n.3814+1G>A)
c.3796+1G>A (n.3796+1G>A)
c.3733+1G>A (n.3733+1G>A)
ClinVar dbSNP
11g.47332072C>ACA380309530MYBPC3c.3814G>T (p.Val1272Leu)
c.3796G>T (p.Val1266Leu)
c.3733G>T (p.Val1245Leu)
11g.47332072C=CA1969333188MYBPC3c.3814G= (p.Val1272=)
c.3796G= (p.Val1266=)
c.3733G= (p.Val1245=)
11g.47332072C>GCA380309540MYBPC3c.3814G>C (p.Val1272Leu)
c.3796G>C (p.Val1266Leu)
c.3733G>C (p.Val1245Leu)
ClinVar dbSNP
11g.47332072C>TCA014972MYBPC3c.3814G>A (p.Val1272Met)
c.3796G>A (p.Val1266Met)
c.3733G>A (p.Val1245Met)
ClinVar dbSNP
11g.47332073T>ACA474211875MYBPC3c.3813A>T (p.Arg1271=)
c.3795A>T (p.Arg1265=)
c.3732A>T (p.Arg1244=)
11g.47332073T>CCA079557MYBPC3c.3813A>G (p.Arg1271=)
c.3795A>G (p.Arg1265=)
c.3732A>G (p.Arg1244=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332073T>GCA474211877MYBPC3c.3813A>C (p.Arg1271=)
c.3795A>C (p.Arg1265=)
c.3732A>C (p.Arg1244=)
11g.47332073T=CA1969333189MYBPC3c.3813A= (p.Arg1271=)
c.3795A= (p.Arg1265=)
c.3732A= (p.Arg1244=)
11g.47332074C>ACA380310354MYBPC3c.3812G>T (p.Arg1271Leu)
c.3794G>T (p.Arg1265Leu)
c.3731G>T (p.Arg1244Leu)
11g.47332074C=CA1969333191MYBPC3c.3812G= (p.Arg1271=)
c.3794G= (p.Arg1265=)
c.3731G= (p.Arg1244=)
11g.47332074C>GCA380310358MYBPC3c.3812G>C (p.Arg1271Pro)
c.3794G>C (p.Arg1265Pro)
c.3731G>C (p.Arg1244Pro)
ClinVar dbSNP gnomAD v4
11g.47332074C>TCA079555MYBPC3c.3812G>A (p.Arg1271Gln)
c.3794G>A (p.Arg1265Gln)
c.3731G>A (p.Arg1244Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332076_47332099delCA2739291456MYBPC3c.3789_3812del (p.Cys1264_Arg1271del)
c.3771_3794del (p.Cys1258_Arg1265del)
c.3708_3731del (p.Cys1237_Arg1244del)
11g.47332075G>ACA014956MYBPC3c.3811C>T (p.Arg1271Ter)
c.3793C>T (p.Arg1265Ter)
c.3730C>T (p.Arg1244Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47332075G>CCA380310369MYBPC3c.3811C>G (p.Arg1271Gly)
c.3793C>G (p.Arg1265Gly)
c.3730C>G (p.Arg1244Gly)
11g.47332075G=CA1969333194MYBPC3c.3811C= (p.Arg1271=)
c.3793C= (p.Arg1265=)
c.3730C= (p.Arg1244=)
11g.47332075G>TCA474428809MYBPC3c.3811C>A (p.Arg1271=)
c.3793C>A (p.Arg1265=)
c.3730C>A (p.Arg1244=)
11g.47332076C>ACA474428811MYBPC3c.3810G>T (p.Val1270=)
c.3792G>T (p.Val1264=)
c.3729G>T (p.Val1243=)
ClinVar
11g.47332076C=CA1969333197MYBPC3c.3810G= (p.Val1270=)
c.3792G= (p.Val1264=)
c.3729G= (p.Val1243=)
11g.47332076C>GCA474428812MYBPC3c.3810G>C (p.Val1270=)
c.3792G>C (p.Val1264=)
c.3729G>C (p.Val1243=)
11g.47332076C>TCA474428810MYBPC3c.3810G>A (p.Val1270=)
c.3792G>A (p.Val1264=)
c.3729G>A (p.Val1243=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332077A=CA1969333199MYBPC3c.3809T= (p.Val1270=)
c.3791T= (p.Val1264=)
c.3728T= (p.Val1243=)
11g.47332077A>CCA16619329MYBPC3c.3809T>G (p.Val1270Gly)
c.3791T>G (p.Val1264Gly)
c.3728T>G (p.Val1243Gly)
ClinVar dbSNP
11g.47332077A>GCA380310376MYBPC3c.3809T>C (p.Val1270Ala)
c.3791T>C (p.Val1264Ala)
c.3728T>C (p.Val1243Ala)
ClinVar
11g.47332077A>TCA380310378MYBPC3c.3809T>A (p.Val1270Glu)
c.3791T>A (p.Val1264Glu)
c.3728T>A (p.Val1243Glu)
11g.47332078C>ACA16619330MYBPC3c.3808G>T (p.Val1270Leu)
c.3790G>T (p.Val1264Leu)
c.3727G>T (p.Val1243Leu)
ClinVar dbSNP gnomAD v4
11g.47332078C=CA1969333203MYBPC3c.3808G= (p.Val1270=)
c.3790G= (p.Val1264=)
c.3727G= (p.Val1243=)
11g.47332078C>GCA380310385MYBPC3c.3808G>C (p.Val1270Leu)
c.3790G>C (p.Val1264Leu)
c.3727G>C (p.Val1243Leu)
11g.47332078C>TCA380310387MYBPC3c.3808G>A (p.Val1270Met)
c.3790G>A (p.Val1264Met)
c.3727G>A (p.Val1243Met)
ClinVar dbSNP gnomAD v4
11g.47332079C>ACA380310391MYBPC3c.3807G>T (p.Glu1269Asp)
c.3789G>T (p.Glu1263Asp)
c.3726G>T (p.Glu1242Asp)
11g.47332079C>GCA380310394MYBPC3c.3807G>C (p.Glu1269Asp)
c.3789G>C (p.Glu1263Asp)
c.3726G>C (p.Glu1242Asp)
gnomAD v4
11g.47332079C>TCA474428813MYBPC3c.3807G>A (p.Glu1269=)
c.3789G>A (p.Glu1263=)
c.3726G>A (p.Glu1242=)
gnomAD v4
11g.47332080T>ACA380310398MYBPC3c.3806A>T (p.Glu1269Val)
c.3788A>T (p.Glu1263Val)
c.3725A>T (p.Glu1242Val)
11g.47332080T>CCA380310403MYBPC3c.3806A>G (p.Glu1269Gly)
c.3788A>G (p.Glu1263Gly)
c.3725A>G (p.Glu1242Gly)
11g.47332080T>GCA380310401MYBPC3c.3806A>C (p.Glu1269Ala)
c.3788A>C (p.Glu1263Ala)
c.3725A>C (p.Glu1242Ala)
11g.47332081C>ACA380310407MYBPC3c.3805G>T (p.Glu1269Ter)
c.3787G>T (p.Glu1263Ter)
c.3724G>T (p.Glu1242Ter)
ClinVar
11g.47332081C>GCA380310409MYBPC3c.3805G>C (p.Glu1269Gln)
c.3787G>C (p.Glu1263Gln)
c.3724G>C (p.Glu1242Gln)
11g.47332081C>TCA380310412MYBPC3c.3805G>A (p.Glu1269Lys)
c.3787G>A (p.Glu1263Lys)
c.3724G>A (p.Glu1242Lys)
gnomAD v4
11g.47332082C>ACA474428814MYBPC3c.3804G>T (p.Leu1268=)
c.3786G>T (p.Leu1262=)
c.3723G>T (p.Leu1241=)
11g.47332082C>GCA474428815MYBPC3c.3804G>C (p.Leu1268=)
c.3786G>C (p.Leu1262=)
c.3723G>C (p.Leu1241=)
11g.47332082C>TCA474428816MYBPC3c.3804G>A (p.Leu1268=)
c.3786G>A (p.Leu1262=)
c.3723G>A (p.Leu1241=)
11g.47332083A=CA1969333205MYBPC3c.3803T= (p.Leu1268=)
c.3785T= (p.Leu1262=)
c.3722T= (p.Leu1241=)
11g.47332083A>CCA380310416MYBPC3c.3803T>G (p.Leu1268Arg)
c.3785T>G (p.Leu1262Arg)
c.3722T>G (p.Leu1241Arg)
11g.47332083A>GCA014947MYBPC3c.3803T>C (p.Leu1268Pro)
c.3785T>C (p.Leu1262Pro)
c.3722T>C (p.Leu1241Pro)
ClinVar dbSNP
11g.47332083A>TCA380310419MYBPC3c.3803T>A (p.Leu1268Gln)
c.3785T>A (p.Leu1262Gln)
c.3722T>A (p.Leu1241Gln)
11g.47332083_47332086delinsAGGCCA1969333204MYBPC3c.3800_3803delinsGCCT (p.Arg1267=)
c.3782_3785delinsGCCT (p.Arg1261=)
c.3719_3722delinsGCCT (p.Arg1240=)
11g.47332084G>ACA474428817MYBPC3c.3802C>T (p.Leu1268=)
c.3784C>T (p.Leu1262=)
c.3721C>T (p.Leu1241=)
11g.47332084G>CCA380310421MYBPC3c.3802C>G (p.Leu1268Val)
c.3784C>G (p.Leu1262Val)
c.3721C>G (p.Leu1241Val)
ClinVar dbSNP
11g.47332084G=CA1969333209MYBPC3c.3802C= (p.Leu1268=)
c.3784C= (p.Leu1262=)
c.3721C= (p.Leu1241=)
11g.47332084G>TCA380310424MYBPC3c.3802C>A (p.Leu1268Met)
c.3784C>A (p.Leu1262Met)
c.3721C>A (p.Leu1241Met)
11g.47332087_47332089delCA014933MYBPC3c.3800_3802del (p.Arg1267del)
c.3782_3784del (p.Arg1261del)
c.3719_3721del (p.Arg1240del)
ClinVar dbSNP gnomAD v4
11g.47332085G>ACA079552MYBPC3c.3801C>T (p.Arg1267=)
c.3783C>T (p.Arg1261=)
c.3720C>T (p.Arg1240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332085G>CCA474428818MYBPC3c.3801C>G (p.Arg1267=)
c.3783C>G (p.Arg1261=)
c.3720C>G (p.Arg1240=)
11g.47332085G=CA1969333211MYBPC3c.3801C= (p.Arg1267=)
c.3783C= (p.Arg1261=)
c.3720C= (p.Arg1240=)
11g.47332085G>TCA474428819MYBPC3c.3801C>A (p.Arg1267=)
c.3783C>A (p.Arg1261=)
c.3720C>A (p.Arg1240=)
dbSNP gnomAD v2 gnomAD v4
11g.47332086C>ACA380310432MYBPC3c.3800G>T (p.Arg1267Leu)
c.3782G>T (p.Arg1261Leu)
c.3719G>T (p.Arg1240Leu)
11g.47332086C=CA1969333213MYBPC3c.3800G= (p.Arg1267=)
c.3782G= (p.Arg1261=)
c.3719G= (p.Arg1240=)
11g.47332086C>GCA380310434MYBPC3c.3800G>C (p.Arg1267Pro)
c.3782G>C (p.Arg1261Pro)
c.3719G>C (p.Arg1240Pro)
gnomAD v4
11g.47332086C>TCA014937MYBPC3c.3800G>A (p.Arg1267His)
c.3782G>A (p.Arg1261His)
c.3719G>A (p.Arg1240His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332086_47332087delinsCGCA1969333214MYBPC3c.3799_3800delinsCG (p.Arg1267=)
c.3781_3782delinsCG (p.Arg1261=)
c.3718_3719delinsCG (p.Arg1240=)
11g.47332087G>ACA079549MYBPC3c.3799C>T (p.Arg1267Cys)
c.3781C>T (p.Arg1261Cys)
c.3718C>T (p.Arg1240Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332087G>CCA380310441MYBPC3c.3799C>G (p.Arg1267Gly)
c.3781C>G (p.Arg1261Gly)
c.3718C>G (p.Arg1240Gly)
ClinVar
11g.47332087G=CA1969333217MYBPC3c.3799C= (p.Arg1267=)
c.3781C= (p.Arg1261=)
c.3718C= (p.Arg1240=)
11g.47332087G>TCA380310438MYBPC3c.3799C>A (p.Arg1267Ser)
c.3781C>A (p.Arg1261Ser)
c.3718C>A (p.Arg1240Ser)
11g.47332088delCA915948127MYBPC3c.3799del (p.Arg1267AlafsTer?)
c.3781del (p.Arg1261AlafsTer?)
c.3718del (p.Arg1240AlafsTer?)
ClinVar dbSNP
11g.47332088G>ACA055003MYBPC3c.3798C>T (p.Cys1266=)
c.3780C>T (p.Cys1260=)
c.3717C>T (p.Cys1239=)
ClinVar
11g.47332088G>CCA380310448MYBPC3c.3798C>G (p.Cys1266Trp)
c.3780C>G (p.Cys1260Trp)
c.3717C>G (p.Cys1239Trp)
ClinVar dbSNP gnomAD v4
11g.47332088G=CA1969333219MYBPC3c.3798C= (p.Cys1266=)
c.3780C= (p.Cys1260=)
c.3717C= (p.Cys1239=)
11g.47332088G>TCA380310449MYBPC3c.3798C>A (p.Cys1266Ter)
c.3780C>A (p.Cys1260Ter)
c.3717C>A (p.Cys1239Ter)
11g.47332089delCA2739291457MYBPC3c.3797del (p.Cys1266SerfsTer?)
c.3779del (p.Cys1260SerfsTer?)
c.3716del (p.Cys1239SerfsTer?)
11g.47332089C>ACA380310450MYBPC3c.3797G>T (p.Cys1266Phe)
c.3779G>T (p.Cys1260Phe)
c.3716G>T (p.Cys1239Phe)
ClinVar
11g.47332089C=CA1969333220MYBPC3c.3797G= (p.Cys1266=)
c.3779G= (p.Cys1260=)
c.3716G= (p.Cys1239=)
11g.47332089C>GCA380310453MYBPC3c.3797G>C (p.Cys1266Ser)
c.3779G>C (p.Cys1260Ser)
c.3716G>C (p.Cys1239Ser)
11g.47332089C>TCA014925MYBPC3c.3797G>A (p.Cys1266Tyr)
c.3779G>A (p.Cys1260Tyr)
c.3716G>A (p.Cys1239Tyr)
ClinVar dbSNP
11g.47332090A=CA1969333224MYBPC3c.3796T= (p.Cys1266=)
c.3778T= (p.Cys1260=)
c.3715T= (p.Cys1239=)
11g.47332090A>CCA380310460MYBPC3c.3796T>G (p.Cys1266Gly)
c.3778T>G (p.Cys1260Gly)
c.3715T>G (p.Cys1239Gly)
11g.47332090A>GCA014917MYBPC3c.3796T>C (p.Cys1266Arg)
c.3778T>C (p.Cys1260Arg)
c.3715T>C (p.Cys1239Arg)
ClinVar dbSNP
11g.47332090A>TCA380310464MYBPC3c.3796T>A (p.Cys1266Ser)
c.3778T>A (p.Cys1260Ser)
c.3715T>A (p.Cys1239Ser)
11g.47332090_47332092delinsACTCA1969333223MYBPC3c.3794_3796delinsAGT (p.Glu1265=)
c.3776_3778delinsAGT (p.Glu1259=)
c.3713_3715delinsAGT (p.Glu1238=)
11g.47332090_47332092delinsGCACA1139659379MYBPC3c.3794_3796delinsTGC (p.Glu1265_Cys1266delinsValArg)
c.3776_3778delinsTGC (p.Glu1259_Cys1260delinsValArg)
c.3713_3715delinsTGC (p.Glu1238_Cys1239delinsValArg)
ClinVar dbSNP
11g.47332091C>ACA380310468MYBPC3c.3795G>T (p.Glu1265Asp)
c.3777G>T (p.Glu1259Asp)
c.3714G>T (p.Glu1238Asp)
11g.47332091C>GCA380310469MYBPC3c.3795G>C (p.Glu1265Asp)
c.3777G>C (p.Glu1259Asp)
c.3714G>C (p.Glu1238Asp)
11g.47332091C>TCA474428820MYBPC3c.3795G>A (p.Glu1265=)
c.3777G>A (p.Glu1259=)
c.3714G>A (p.Glu1238=)
gnomAD v4
11g.47332092T>ACA014911MYBPC3c.3794A>T (p.Glu1265Val)
c.3776A>T (p.Glu1259Val)
c.3713A>T (p.Glu1238Val)
ClinVar dbSNP
11g.47332092T>CCA380310475MYBPC3c.3794A>G (p.Glu1265Gly)
c.3776A>G (p.Glu1259Gly)
c.3713A>G (p.Glu1238Gly)
11g.47332092T>GCA380310478MYBPC3c.3794A>C (p.Glu1265Ala)
c.3776A>C (p.Glu1259Ala)
c.3713A>C (p.Glu1238Ala)
11g.47332092T=CA1969333226MYBPC3c.3794A= (p.Glu1265=)
c.3776A= (p.Glu1259=)
c.3713A= (p.Glu1238=)
11g.47332093C>ACA380310484MYBPC3c.3793G>T (p.Glu1265Ter)
c.3775G>T (p.Glu1259Ter)
c.3712G>T (p.Glu1238Ter)
11g.47332093C=CA1969333228MYBPC3c.3793G= (p.Glu1265=)
c.3775G= (p.Glu1259=)
c.3712G= (p.Glu1238=)
11g.47332093C>GCA380310483MYBPC3c.3793G>C (p.Glu1265Gln)
c.3775G>C (p.Glu1259Gln)
c.3712G>C (p.Glu1238Gln)
11g.47332093C>TCA079547MYBPC3c.3793G>A (p.Glu1265Lys)
c.3775G>A (p.Glu1259Lys)
c.3712G>A (p.Glu1238Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332096_47332097delCA645369136MYBPC3c.3792_3793del (p.Cys1264Ter)
c.3774_3775del (p.Cys1258Ter)
c.3711_3712del (p.Cys1237Ter)
11g.47332093_47332104delinsCACACCGTGCCTCA1969333230MYBPC3c.3782_3793delinsAGGCACGGTGTG (p.Glu1261=)
c.3764_3775delinsAGGCACGGTGTG (p.Glu1255=)
c.3701_3712delinsAGGCACGGTGTG (p.Glu1234=)
11g.47332094A>CCA380310487MYBPC3c.3792T>G (p.Cys1264Trp)
c.3774T>G (p.Cys1258Trp)
c.3711T>G (p.Cys1237Trp)
11g.47332094A>GCA474428821MYBPC3c.3792T>C (p.Cys1264=)
c.3774T>C (p.Cys1258=)
c.3711T>C (p.Cys1237=)
11g.47332094A>TCA380310489MYBPC3c.3792T>A (p.Cys1264Ter)
c.3774T>A (p.Cys1258Ter)
c.3711T>A (p.Cys1237Ter)
11g.47332094_47332104delinsCAGGCA645294065MYBPC3c.3782_3792delinsCCTG (p.Glu1261AlafsTer?)
c.3764_3774delinsCCTG (p.Glu1255AlafsTer?)
c.3701_3711delinsCCTG (p.Glu1234AlafsTer?)
ClinVar dbSNP
11g.47332095C>ACA014908MYBPC3c.3791G>T (p.Cys1264Phe)
c.3773G>T (p.Cys1258Phe)
c.3710G>T (p.Cys1237Phe)
ClinVar dbSNP
11g.47332095C=CA1969333235MYBPC3c.3791G= (p.Cys1264=)
c.3773G= (p.Cys1258=)
c.3710G= (p.Cys1237=)
11g.47332095C>GCA380310495MYBPC3c.3791G>C (p.Cys1264Ser)
c.3773G>C (p.Cys1258Ser)
c.3710G>C (p.Cys1237Ser)
11g.47332095C>TCA014899MYBPC3c.3791G>A (p.Cys1264Tyr)
c.3773G>A (p.Cys1258Tyr)
c.3710G>A (p.Cys1237Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332096A>CCA380310500MYBPC3c.3790T>G (p.Cys1264Gly)
c.3772T>G (p.Cys1258Gly)
c.3709T>G (p.Cys1237Gly)
11g.47332096A>GCA380310502MYBPC3c.3790T>C (p.Cys1264Arg)
c.3772T>C (p.Cys1258Arg)
c.3709T>C (p.Cys1237Arg)
ClinVar dbSNP gnomAD v4
11g.47332096A>TCA380310505MYBPC3c.3790T>A (p.Cys1264Ser)
c.3772T>A (p.Cys1258Ser)
c.3709T>A (p.Cys1237Ser)
11g.47332097C>ACA474428822MYBPC3c.3789G>T (p.Arg1263=)
c.3771G>T (p.Arg1257=)
c.3708G>T (p.Arg1236=)
gnomAD v4
11g.47332097C>GCA474428824MYBPC3c.3789G>C (p.Arg1263=)
c.3771G>C (p.Arg1257=)
c.3708G>C (p.Arg1236=)
11g.47332097C>TCA474428823MYBPC3c.3789G>A (p.Arg1263=)
c.3771G>A (p.Arg1257=)
c.3708G>A (p.Arg1236=)
11g.47332098C>ACA380310507MYBPC3c.3788G>T (p.Arg1263Leu)
c.3770G>T (p.Arg1257Leu)
c.3707G>T (p.Arg1236Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332098C=CA1969333243MYBPC3c.3788G= (p.Arg1263=)
c.3770G= (p.Arg1257=)
c.3707G= (p.Arg1236=)
11g.47332098C>GCA380310509MYBPC3c.3788G>C (p.Arg1263Pro)
c.3770G>C (p.Arg1257Pro)
c.3707G>C (p.Arg1236Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47332098C>TCA054961MYBPC3c.3788G>A (p.Arg1263Gln)
c.3770G>A (p.Arg1257Gln)
c.3707G>A (p.Arg1236Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332099delCA2580084168MYBPC3c.3787del (p.Arg1263GlyfsTer?)
c.3769del (p.Arg1257GlyfsTer?)
c.3706del (p.Arg1236GlyfsTer?)
ClinVar
11g.47332099G>ACA014891MYBPC3c.3787C>T (p.Arg1263Trp)
c.3769C>T (p.Arg1257Trp)
c.3706C>T (p.Arg1236Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332099G>CCA380310515MYBPC3c.3787C>G (p.Arg1263Gly)
c.3769C>G (p.Arg1257Gly)
c.3706C>G (p.Arg1236Gly)
11g.47332099G=CA1969333251MYBPC3c.3787C= (p.Arg1263=)
c.3769C= (p.Arg1257=)
c.3706C= (p.Arg1236=)
11g.47332099G>TCA474428825MYBPC3c.3787C>A (p.Arg1263=)
c.3769C>A (p.Arg1257=)
c.3706C>A (p.Arg1236=)
11g.47332100T>ACA474428826MYBPC3c.3786A>T (p.Ala1262=)
c.3768A>T (p.Ala1256=)
c.3705A>T (p.Ala1235=)
11g.47332100T>CCA474428827MYBPC3c.3786A>G (p.Ala1262=)
c.3768A>G (p.Ala1256=)
c.3705A>G (p.Ala1235=)
11g.47332100T>GCA474428828MYBPC3c.3786A>C (p.Ala1262=)
c.3768A>C (p.Ala1256=)
c.3705A>C (p.Ala1235=)
11g.47332101G>ACA380310523MYBPC3c.3785C>T (p.Ala1262Val)
c.3767C>T (p.Ala1256Val)
c.3704C>T (p.Ala1235Val)
ClinVar dbSNP
11g.47332101G>CCA380310519MYBPC3c.3785C>G (p.Ala1262Gly)
c.3767C>G (p.Ala1256Gly)
c.3704C>G (p.Ala1235Gly)
11g.47332101G=CA1969333255MYBPC3c.3785C= (p.Ala1262=)
c.3767C= (p.Ala1256=)
c.3704C= (p.Ala1235=)
11g.47332101G>TCA380310521MYBPC3c.3785C>A (p.Ala1262Glu)
c.3767C>A (p.Ala1256Glu)
c.3704C>A (p.Ala1235Glu)
11g.47332104_47332108delCA2695213890MYBPC3c.3781_3785del (p.Glu1261ThrfsTer3)
c.3763_3767del (p.Glu1255ThrfsTer3)
c.3700_3704del (p.Glu1234ThrfsTer3)
11g.47332102C>ACA380310528MYBPC3c.3784G>T (p.Ala1262Ser)
c.3766G>T (p.Ala1256Ser)
c.3703G>T (p.Ala1235Ser)
11g.47332102C>GCA380310529MYBPC3c.3784G>C (p.Ala1262Pro)
c.3766G>C (p.Ala1256Pro)
c.3703G>C (p.Ala1235Pro)
11g.47332102C>TCA380310530MYBPC3c.3784G>A (p.Ala1262Thr)
c.3766G>A (p.Ala1256Thr)
c.3703G>A (p.Ala1235Thr)
ClinVar gnomAD v4 COSMIC COSMIC
11g.47332103_47332105dupCA2580615672MYBPC3c.3782_3784dup (p.Glu1261_Ala1262insGlu)
c.3764_3766dup (p.Glu1255_Ala1256insGlu)
c.3701_3703dup (p.Glu1234_Ala1235insGlu)
ClinVar
11g.47332103C>ACA380310533MYBPC3c.3783G>T (p.Glu1261Asp)
c.3765G>T (p.Glu1255Asp)
c.3702G>T (p.Glu1234Asp)
11g.47332103C=CA1969333260MYBPC3c.3783G= (p.Glu1261=)
c.3765G= (p.Glu1255=)
c.3702G= (p.Glu1234=)
11g.47332103C>GCA380310536MYBPC3c.3783G>C (p.Glu1261Asp)
c.3765G>C (p.Glu1255Asp)
c.3702G>C (p.Glu1234Asp)
11g.47332103C>TCA221681738MYBPC3c.3783G>A (p.Glu1261=)
c.3765G>A (p.Glu1255=)
c.3702G>A (p.Glu1234=)
ClinVar dbSNP
11g.47332104T>ACA380310540MYBPC3c.3782A>T (p.Glu1261Val)
c.3764A>T (p.Glu1255Val)
c.3701A>T (p.Glu1234Val)
11g.47332104T>CCA380310543MYBPC3c.3782A>G (p.Glu1261Gly)
c.3764A>G (p.Glu1255Gly)
c.3701A>G (p.Glu1234Gly)
11g.47332104T>GCA380310555MYBPC3c.3782A>C (p.Glu1261Ala)
c.3764A>C (p.Glu1255Ala)
c.3701A>C (p.Glu1234Ala)
11g.47332105C>ACA380310562MYBPC3c.3781G>T (p.Glu1261Ter)
c.3763G>T (p.Glu1255Ter)
c.3700G>T (p.Glu1234Ter)
ClinVar dbSNP
11g.47332105C=CA1969333265MYBPC3c.3781G= (p.Glu1261=)
c.3763G= (p.Glu1255=)
c.3700G= (p.Glu1234=)
11g.47332105C>GCA380310565MYBPC3c.3781G>C (p.Glu1261Gln)
c.3763G>C (p.Glu1255Gln)
c.3700G>C (p.Glu1234Gln)
ClinVar dbSNP gnomAD v4
11g.47332105C>TCA014880MYBPC3c.3781G>A (p.Glu1261Lys)
c.3763G>A (p.Glu1255Lys)
c.3700G>A (p.Glu1234Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332106G>ACA079541MYBPC3c.3780C>T (p.Gly1260=)
c.3762C>T (p.Gly1254=)
c.3699C>T (p.Gly1233=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332106G>CCA474428829MYBPC3c.3780C>G (p.Gly1260=)
c.3762C>G (p.Gly1254=)
c.3699C>G (p.Gly1233=)
11g.47332106G=CA1969333277MYBPC3c.3780C= (p.Gly1260=)
c.3762C= (p.Gly1254=)
c.3699C= (p.Gly1233=)
11g.47332106G>TCA474428830MYBPC3c.3780C>A (p.Gly1260=)
c.3762C>A (p.Gly1254=)
c.3699C>A (p.Gly1233=)
11g.47332107C>ACA380310574MYBPC3c.3779G>T (p.Gly1260Val)
c.3761G>T (p.Gly1254Val)
c.3698G>T (p.Gly1233Val)
11g.47332107C=CA1969333283MYBPC3c.3779G= (p.Gly1260=)
c.3761G= (p.Gly1254=)
c.3698G= (p.Gly1233=)
11g.47332107C>GCA380310587MYBPC3c.3779G>C (p.Gly1260Ala)
c.3761G>C (p.Gly1254Ala)
c.3698G>C (p.Gly1233Ala)
11g.47332107C>TCA014871MYBPC3c.3779G>A (p.Gly1260Asp)
c.3761G>A (p.Gly1254Asp)
c.3698G>A (p.Gly1233Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332109delCA2580084169MYBPC3c.3779del (p.Gly1260AlafsTer?)
c.3761del (p.Gly1254AlafsTer?)
c.3698del (p.Gly1233AlafsTer?)
ClinVar
11g.47332108C>ACA380310592MYBPC3c.3778G>T (p.Gly1260Cys)
c.3760G>T (p.Gly1254Cys)
c.3697G>T (p.Gly1233Cys)
11g.47332108C=CA1969333290MYBPC3c.3778G= (p.Gly1260=)
c.3760G= (p.Gly1254=)
c.3697G= (p.Gly1233=)
11g.47332108C>GCA380310595MYBPC3c.3778G>C (p.Gly1260Arg)
c.3760G>C (p.Gly1254Arg)
c.3697G>C (p.Gly1233Arg)
ClinVar dbSNP gnomAD v4
11g.47332108C>TCA054928MYBPC3c.3778G>A (p.Gly1260Ser)
c.3760G>A (p.Gly1254Ser)
c.3697G>A (p.Gly1233Ser)
gnomAD v4
11g.47332109C>ACA380310605MYBPC3c.3777G>T (p.Gln1259His)
c.3759G>T (p.Gln1253His)
c.3696G>T (p.Gln1232His)
11g.47332109C=CA1969333302MYBPC3c.3777G= (p.Gln1259=)
c.3759G= (p.Gln1253=)
c.3696G= (p.Gln1232=)
11g.47332109C>GCA079539MYBPC3c.3777G>C (p.Gln1259His)
c.3759G>C (p.Gln1253His)
c.3696G>C (p.Gln1232His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332109C>TCA079537MYBPC3c.3777G>A (p.Gln1259=)
c.3759G>A (p.Gln1253=)
c.3696G>A (p.Gln1232=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332109_47332110delinsCTCA1969333300MYBPC3c.3776_3777delinsAG (p.Gln1259=)
c.3758_3759delinsAG (p.Gln1253=)
c.3695_3696delinsAG (p.Gln1232=)
11g.47332110delCA014863MYBPC3c.3776del (p.Gln1259ArgfsTer?)
c.3758del (p.Gln1253ArgfsTer?)
c.3695del (p.Gln1232ArgfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332110T>ACA380310621MYBPC3c.3776A>T (p.Gln1259Leu)
c.3758A>T (p.Gln1253Leu)
c.3695A>T (p.Gln1232Leu)
11g.47332110T>CCA380310618MYBPC3c.3776A>G (p.Gln1259Arg)
c.3758A>G (p.Gln1253Arg)
c.3695A>G (p.Gln1232Arg)
11g.47332110T>GCA380310614MYBPC3c.3776A>C (p.Gln1259Pro)
c.3758A>C (p.Gln1253Pro)
c.3695A>C (p.Gln1232Pro)
11g.47332111G>ACA014855MYBPC3c.3775C>T (p.Gln1259Ter)
c.3757C>T (p.Gln1253Ter)
c.3694C>T (p.Gln1232Ter)
ClinVar dbSNP gnomAD v4
11g.47332111G>CCA380310639MYBPC3c.3775C>G (p.Gln1259Glu)
c.3757C>G (p.Gln1253Glu)
c.3694C>G (p.Gln1232Glu)
11g.47332111G=CA1969333316MYBPC3c.3775C= (p.Gln1259=)
c.3757C= (p.Gln1253=)
c.3694C= (p.Gln1232=)
11g.47332111G>TCA380310643MYBPC3c.3775C>A (p.Gln1259Lys)
c.3757C>A (p.Gln1253Lys)
c.3694C>A (p.Gln1232Lys)
gnomAD v4

Number of alleles fetched