Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332259_47335041del | CA2580084187 | MYBPC3 | c.2905+1_3628-1del c.2887+1_3610-1del c.2824+1_3547-1del | ClinVar |
11 | g.47332677_47333963del | CA2573051316 | MYBPC3 | c.2956_3519del c.2938_3501del c.2875_3438del | ClinVar |
11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | ClinVar |
11 | g.47333584T>A | CA352035 | MYBPC3 | c.3163A>T (p.Lys1055Ter) c.3145A>T (p.Lys1049Ter) c.3082A>T (p.Lys1028Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47333584T>C | CA380314733 | MYBPC3 | c.3163A>G (p.Lys1055Glu) c.3145A>G (p.Lys1049Glu) c.3082A>G (p.Lys1028Glu) | |
11 | g.47333584T>G | CA380314735 | MYBPC3 | c.3163A>C (p.Lys1055Gln) c.3145A>C (p.Lys1049Gln) c.3082A>C (p.Lys1028Gln) | |
11 | g.47333584T= | CA1969335768 | MYBPC3 | c.3163A= (p.Lys1055=) c.3145A= (p.Lys1049=) c.3082A= (p.Lys1028=) | |
11 | g.47333585G>A | CA474212305 | MYBPC3 | c.3162C>T (p.Asp1054=) c.3144C>T (p.Asp1048=) c.3081C>T (p.Asp1027=) | |
11 | g.47333585G>C | CA380314738 | MYBPC3 | c.3162C>G (p.Asp1054Glu) c.3144C>G (p.Asp1048Glu) c.3081C>G (p.Asp1027Glu) | |
11 | g.47333585G>T | CA380314741 | MYBPC3 | c.3162C>A (p.Asp1054Glu) c.3144C>A (p.Asp1048Glu) c.3081C>A (p.Asp1027Glu) | gnomAD v4 |
11 | g.47333586T>A | CA380314744 | MYBPC3 | c.3161A>T (p.Asp1054Val) c.3143A>T (p.Asp1048Val) c.3080A>T (p.Asp1027Val) | |
11 | g.47333586T>C | CA380314747 | MYBPC3 | c.3161A>G (p.Asp1054Gly) c.3143A>G (p.Asp1048Gly) c.3080A>G (p.Asp1027Gly) | |
11 | g.47333586T>G | CA380314750 | MYBPC3 | c.3161A>C (p.Asp1054Ala) c.3143A>C (p.Asp1048Ala) c.3080A>C (p.Asp1027Ala) | |
11 | g.47333587C>A | CA380314753 | MYBPC3 | c.3160G>T (p.Asp1054Tyr) c.3142G>T (p.Asp1048Tyr) c.3079G>T (p.Asp1027Tyr) | |
11 | g.47333587C= | CA1969335769 | MYBPC3 | c.3160G= (p.Asp1054=) c.3142G= (p.Asp1048=) c.3079G= (p.Asp1027=) | |
11 | g.47333587C>G | CA380314754 | MYBPC3 | c.3160G>C (p.Asp1054His) c.3142G>C (p.Asp1048His) c.3079G>C (p.Asp1027His) | |
11 | g.47333587C>T | CA380314758 | MYBPC3 | c.3160G>A (p.Asp1054Asn) c.3142G>A (p.Asp1048Asn) c.3079G>A (p.Asp1027Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333588C>A | CA380314761 | MYBPC3 | c.3159G>T (p.Glu1053Asp) c.3141G>T (p.Glu1047Asp) c.3078G>T (p.Glu1026Asp) | |
11 | g.47333588C= | CA1969335772 | MYBPC3 | c.3159G= (p.Glu1053=) c.3141G= (p.Glu1047=) c.3078G= (p.Glu1026=) | |
11 | g.47333588C>G | CA380314764 | MYBPC3 | c.3159G>C (p.Glu1053Asp) c.3141G>C (p.Glu1047Asp) c.3078G>C (p.Glu1026Asp) | |
11 | g.47333588C>T | CA474212314 | MYBPC3 | c.3159G>A (p.Glu1053=) c.3141G>A (p.Glu1047=) c.3078G>A (p.Glu1026=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333589T>A | CA380314766 | MYBPC3 | c.3158A>T (p.Glu1053Val) c.3140A>T (p.Glu1047Val) c.3077A>T (p.Glu1026Val) | |
11 | g.47333589T>C | CA380314769 | MYBPC3 | c.3158A>G (p.Glu1053Gly) c.3140A>G (p.Glu1047Gly) c.3077A>G (p.Glu1026Gly) | |
11 | g.47333589T>G | CA380314771 | MYBPC3 | c.3158A>C (p.Glu1053Ala) c.3140A>C (p.Glu1047Ala) c.3077A>C (p.Glu1026Ala) | |
11 | g.47333590C>A | CA052979 | MYBPC3 | c.3157G>T (p.Glu1053Ter) c.3139G>T (p.Glu1047Ter) c.3076G>T (p.Glu1026Ter) | ClinVar dbSNP |
11 | g.47333590C= | CA1969335776 | MYBPC3 | c.3157G= (p.Glu1053=) c.3139G= (p.Glu1047=) c.3076G= (p.Glu1026=) | |
11 | g.47333590C>G | CA380314775 | MYBPC3 | c.3157G>C (p.Glu1053Gln) c.3139G>C (p.Glu1047Gln) c.3076G>C (p.Glu1026Gln) | |
11 | g.47333590C>T | CA052972 | MYBPC3 | c.3157G>A (p.Glu1053Lys) c.3139G>A (p.Glu1047Lys) c.3076G>A (p.Glu1026Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333591C>A | CA380314782 | MYBPC3 | c.3156G>T (p.Met1052Ile) c.3138G>T (p.Met1046Ile) c.3075G>T (p.Met1025Ile) | |
11 | g.47333591C>G | CA380314785 | MYBPC3 | c.3156G>C (p.Met1052Ile) c.3138G>C (p.Met1046Ile) c.3075G>C (p.Met1025Ile) | |
11 | g.47333591C>T | CA380314788 | MYBPC3 | c.3156G>A (p.Met1052Ile) c.3138G>A (p.Met1046Ile) c.3075G>A (p.Met1025Ile) | |
11 | g.47333592A= | CA1969335777 | MYBPC3 | c.3155T= (p.Met1052=) c.3137T= (p.Met1046=) c.3074T= (p.Met1025=) | |
11 | g.47333592A>C | CA380314792 | MYBPC3 | c.3155T>G (p.Met1052Arg) c.3137T>G (p.Met1046Arg) c.3074T>G (p.Met1025Arg) | dbSNP |
11 | g.47333592A>G | CA380314795 | MYBPC3 | c.3155T>C (p.Met1052Thr) c.3137T>C (p.Met1046Thr) c.3074T>C (p.Met1025Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47333592A>T | CA380314798 | MYBPC3 | c.3155T>A (p.Met1052Lys) c.3137T>A (p.Met1046Lys) c.3074T>A (p.Met1025Lys) | |
11 | g.47333593T>A | CA380314805 | MYBPC3 | c.3154A>T (p.Met1052Leu) c.3136A>T (p.Met1046Leu) c.3073A>T (p.Met1025Leu) | |
11 | g.47333593T>C | CA013559 | MYBPC3 | c.3154A>G (p.Met1052Val) c.3136A>G (p.Met1046Val) c.3073A>G (p.Met1025Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333593T>G | CA380314801 | MYBPC3 | c.3154A>C (p.Met1052Leu) c.3136A>C (p.Met1046Leu) c.3073A>C (p.Met1025Leu) | |
11 | g.47333593T= | CA1969335779 | MYBPC3 | c.3154A= (p.Met1052=) c.3136A= (p.Met1046=) c.3073A= (p.Met1025=) | |
11 | g.47333594G>A | CA474212327 | MYBPC3 | c.3153C>T (p.Asn1051=) c.3135C>T (p.Asn1045=) c.3072C>T (p.Asn1024=) | |
11 | g.47333594G>C | CA380314807 | MYBPC3 | c.3153C>G (p.Asn1051Lys) c.3135C>G (p.Asn1045Lys) c.3072C>G (p.Asn1024Lys) | |
11 | g.47333594G>T | CA380314810 | MYBPC3 | c.3153C>A (p.Asn1051Lys) c.3135C>A (p.Asn1045Lys) c.3072C>A (p.Asn1024Lys) | gnomAD v4 |
11 | g.47333595T>A | CA380314813 | MYBPC3 | c.3152A>T (p.Asn1051Ile) c.3134A>T (p.Asn1045Ile) c.3071A>T (p.Asn1024Ile) | |
11 | g.47333595T>C | CA079166 | MYBPC3 | c.3152A>G (p.Asn1051Ser) c.3134A>G (p.Asn1045Ser) c.3071A>G (p.Asn1024Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333595T>G | CA380314817 | MYBPC3 | c.3152A>C (p.Asn1051Thr) c.3134A>C (p.Asn1045Thr) c.3071A>C (p.Asn1024Thr) | |
11 | g.47333595T= | CA1969335780 | MYBPC3 | c.3152A= (p.Asn1051=) c.3134A= (p.Asn1045=) c.3071A= (p.Asn1024=) | |
11 | g.47333596T>A | CA380314820 | MYBPC3 | c.3151A>T (p.Asn1051Tyr) c.3133A>T (p.Asn1045Tyr) c.3070A>T (p.Asn1024Tyr) | |
11 | g.47333596T>C | CA052757 | MYBPC3 | c.3151A>G (p.Asn1051Asp) c.3133A>G (p.Asn1045Asp) c.3070A>G (p.Asn1024Asp) | |
11 | g.47333596T>G | CA380314823 | MYBPC3 | c.3151A>C (p.Asn1051His) c.3133A>C (p.Asn1045His) c.3070A>C (p.Asn1024His) |