Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332259_47335041delCA2580084187MYBPC3c.2905+1_3628-1del
c.2887+1_3610-1del
c.2824+1_3547-1del
 ClinVar
11g.47332677_47333963delCA2573051316MYBPC3c.2956_3519del
c.2938_3501del
c.2875_3438del
 ClinVar
11g.47332675_47335092delCA2573051317MYBPC3c.2855_3518del
c.2837_3500del
c.2774_3437del
 ClinVar
11g.47333552_47333565delinsCGCACCAACAACCTCA1969335622MYBPC3c.3182_3190+5delinsAGGTTGTTGGTGCG
c.3164_3172+5delinsAGGTTGTTGGTGCG
c.3101_3109+5delinsAGGTTGTTGGTGCG
11g.47333553G>ACA013630MYBPC3c.3190+4C>T (n.3190+4C>T)
c.3172+4C>T (n.3172+4C>T)
c.3109+4C>T (n.3109+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47333553G=CA1969335632MYBPC3c.3190+4C= (n.3190+4C=)
c.3172+4C= (n.3172+4C=)
c.3109+4C= (n.3109+4C=)
11g.47333553G>TCA1969335631MYBPC3c.3190+4C>A (n.3190+4C>A)
c.3172+4C>A (n.3172+4C>A)
c.3109+4C>A (n.3109+4C>A)
 dbSNP
11g.47333553_47333554delinsATCA2499220962MYBPC3c.3190+3_3190+4delinsAT (n.3190+3_3190+4delinsAT)
c.3172+3_3172+4delinsAT (n.3172+3_3172+4delinsAT)
c.3109+3_3109+4delinsAT (n.3109+3_3109+4delinsAT)
 ClinVar dbSNP
11g.47333553_47333554delinsGCCA1969335629MYBPC3c.3190+3_3190+4delinsGC (n.3190+3_3190+4delinsGC)
c.3172+3_3172+4delinsGC (n.3172+3_3172+4delinsGC)
c.3109+3_3109+4delinsGC (n.3109+3_3109+4delinsGC)
11g.47333556_47333568delCA296495MYBPC3c.3182_3190+4del
c.3164_3172+4del
c.3101_3109+4del
 ClinVar dbSNP
11g.47333554delCA013625MYBPC3c.3190+3del (n.3190+3del)
c.3172+3del (n.3172+3del)
c.3109+3del (n.3109+3del)
 ClinVar dbSNP
11g.47333554C=CA1969335642MYBPC3c.3190+3G= (n.3190+3G=)
c.3172+3G= (n.3172+3G=)
c.3109+3G= (n.3109+3G=)
11g.47333554C>TCA079194MYBPC3c.3190+3G>A (n.3190+3G>A)
c.3172+3G>A (n.3172+3G>A)
c.3109+3G>A (n.3109+3G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333555A=CA1969335649MYBPC3c.3190+2T= (n.3190+2T=)
c.3172+2T= (n.3172+2T=)
c.3109+2T= (n.3109+2T=)
11g.47333555A>CCA013616MYBPC3c.3190+2T>G (n.3190+2T>G)
c.3172+2T>G (n.3172+2T>G)
c.3109+2T>G (n.3109+2T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333555A>GCA221682702MYBPC3c.3190+2T>C (n.3190+2T>C)
c.3172+2T>C (n.3172+2T>C)
c.3109+2T>C (n.3109+2T>C)
 dbSNP
11g.47333555A>TCA221682706MYBPC3c.3190+2T>A (n.3190+2T>A)
c.3172+2T>A (n.3172+2T>A)
c.3109+2T>A (n.3109+2T>A)
 dbSNP
11g.47333556C>ACA380314598MYBPC3c.3190+1G>T (n.3190+1G>T)
c.3172+1G>T (n.3172+1G>T)
c.3109+1G>T (n.3109+1G>T)
 gnomAD v4
11g.47333556C=CA1969335658MYBPC3c.3190+1G= (n.3190+1G=)
c.3172+1G= (n.3172+1G=)
c.3109+1G= (n.3109+1G=)
11g.47333556C>GCA221682709MYBPC3c.3190+1G>C (n.3190+1G>C)
c.3172+1G>C (n.3172+1G>C)
c.3109+1G>C (n.3109+1G>C)
 dbSNP
11g.47333556C>TCA013610MYBPC3c.3190+1G>A (n.3190+1G>A)
c.3172+1G>A (n.3172+1G>A)
c.3109+1G>A (n.3109+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333557delCA2573146369MYBPC3c.3190+1del
c.3172+1del
c.3109+1del
 ClinVar dbSNP
11g.47333556_47333559delinsCCAACA1969335655MYBPC3c.3188_3190+1delinsTTGG
c.3170_3172+1delinsTTGG
c.3107_3109+1delinsTTGG
11g.47333557C>ACA380314601MYBPC3c.3190G>T (p.Asp1064Tyr)
c.3172G>T (p.Asp1058Tyr)
c.3109G>T (p.Asp1037Tyr)
11g.47333557C=CA1969335666MYBPC3c.3190G= (p.Asp1064=)
c.3172G= (p.Asp1058=)
c.3109G= (p.Asp1037=)
11g.47333557C>GCA380314603MYBPC3c.3190G>C (p.Asp1064His)
c.3172G>C (p.Asp1058His)
c.3109G>C (p.Asp1037His)
11g.47333557C>TCA013646MYBPC3c.3190G>A (p.Asp1064Asn)
c.3172G>A (p.Asp1058Asn)
c.3109G>A (p.Asp1037Asn)
 ClinVar dbSNP
11g.47333561_47333563delCA915940864MYBPC3c.3188_3190del (p.Val1063del)
c.3170_3172del (p.Val1057del)
c.3107_3109del (p.Val1036del)
 ClinVar dbSNP
11g.47333558A>CCA052873MYBPC3c.3189T>G (p.Val1063=)
c.3171T>G (p.Val1057=)
c.3108T>G (p.Val1036=)
11g.47333558A>GCA474212258MYBPC3c.3189T>C (p.Val1063=)
c.3171T>C (p.Val1057=)
c.3108T>C (p.Val1036=)
11g.47333558A>TCA474212259MYBPC3c.3189T>A (p.Val1063=)
c.3171T>A (p.Val1057=)
c.3108T>A (p.Val1036=)
11g.47333559A=CA1969335676MYBPC3c.3188T= (p.Val1063=)
c.3170T= (p.Val1057=)
c.3107T= (p.Val1036=)
11g.47333559A>CCA380314607MYBPC3c.3188T>G (p.Val1063Gly)
c.3170T>G (p.Val1057Gly)
c.3107T>G (p.Val1036Gly)
11g.47333559A>GCA221682718MYBPC3c.3188T>C (p.Val1063Ala)
c.3170T>C (p.Val1057Ala)
c.3107T>C (p.Val1036Ala)
 ClinVar dbSNP gnomAD v4
11g.47333559A>TCA380314609MYBPC3c.3188T>A (p.Val1063Asp)
c.3170T>A (p.Val1057Asp)
c.3107T>A (p.Val1036Asp)
11g.47333560C>ACA380314610MYBPC3c.3187G>T (p.Val1063Phe)
c.3169G>T (p.Val1057Phe)
c.3106G>T (p.Val1036Phe)
11g.47333560C>GCA380314612MYBPC3c.3187G>C (p.Val1063Leu)
c.3169G>C (p.Val1057Leu)
c.3106G>C (p.Val1036Leu)
11g.47333560C>TCA380314613MYBPC3c.3187G>A (p.Val1063Ile)
c.3169G>A (p.Val1057Ile)
c.3106G>A (p.Val1036Ile)
 gnomAD v4
11g.47333561A>CCA474212261MYBPC3c.3186T>G (p.Val1062=)
c.3168T>G (p.Val1056=)
c.3105T>G (p.Val1035=)
11g.47333561A>GCA474212262MYBPC3c.3186T>C (p.Val1062=)
c.3168T>C (p.Val1056=)
c.3105T>C (p.Val1035=)
11g.47333561A>TCA474212263MYBPC3c.3186T>A (p.Val1062=)
c.3168T>A (p.Val1056=)
c.3105T>A (p.Val1035=)
11g.47333562A=CA1969335681MYBPC3c.3185T= (p.Val1062=)
c.3167T= (p.Val1056=)
c.3104T= (p.Val1035=)
11g.47333562A>CCA380314617MYBPC3c.3185T>G (p.Val1062Gly)
c.3167T>G (p.Val1056Gly)
c.3104T>G (p.Val1035Gly)
11g.47333562A>GCA380314622MYBPC3c.3185T>C (p.Val1062Ala)
c.3167T>C (p.Val1056Ala)
c.3104T>C (p.Val1035Ala)
11g.47333562A>TCA380314620MYBPC3c.3185T>A (p.Val1062Asp)
c.3167T>A (p.Val1056Asp)
c.3104T>A (p.Val1035Asp)
 dbSNP
11g.47333562_47333563delinsACCA1969335683MYBPC3c.3184_3185delinsGT (p.Val1062=)
c.3166_3167delinsGT (p.Val1056=)
c.3103_3104delinsGT (p.Val1035=)
11g.47333563C>ACA380314625MYBPC3c.3184G>T (p.Val1062Phe)
c.3166G>T (p.Val1056Phe)
c.3103G>T (p.Val1035Phe)
11g.47333563C>GCA380314627MYBPC3c.3184G>C (p.Val1062Leu)
c.3166G>C (p.Val1056Leu)
c.3103G>C (p.Val1035Leu)
11g.47333563C>TCA053019MYBPC3c.3184G>A (p.Val1062Ile)
c.3166G>A (p.Val1056Ile)
c.3103G>A (p.Val1035Ile)

Number of alleles fetched