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.47332706_47332816del | CA2791331636 | MYBPC3 | c.3490+2_3491del c.3472+2_3473del c.3409+2_3410del | |
11 | g.47332804G>A | CA079392 | MYBPC3 | c.3490+10C>T (n.3490+10C>T) c.3472+10C>T (n.3472+10C>T) c.3409+10C>T (n.3409+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332804G>C | CA2574815736 | MYBPC3 | c.3490+10C>G (n.3490+10C>G) c.3472+10C>G (n.3472+10C>G) c.3409+10C>G (n.3409+10C>G) | |
11 | g.47332804G= | CA1969334530 | MYBPC3 | c.3490+10C= (n.3490+10C=) c.3472+10C= (n.3472+10C=) c.3409+10C= (n.3409+10C=) | |
11 | g.47332805G>A | CA599374170 | MYBPC3 | c.3490+9C>T (n.3490+9C>T) c.3472+9C>T (n.3472+9C>T) c.3409+9C>T (n.3409+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332805G= | CA1969334532 | MYBPC3 | c.3490+9C= (n.3490+9C=) c.3472+9C= (n.3472+9C=) c.3409+9C= (n.3409+9C=) | |
11 | g.47332805G>T | CA2613392575 | MYBPC3 | c.3490+9C>A (n.3490+9C>A) c.3472+9C>A (n.3472+9C>A) c.3409+9C>A (n.3409+9C>A) | gnomAD v4 |
11 | g.47332806T>C | CA2580084213 | MYBPC3 | c.3490+8A>G (n.3490+8A>G) c.3472+8A>G (n.3472+8A>G) c.3409+8A>G (n.3409+8A>G) | ClinVar |
11 | g.47332806T>G | CA677014050 | MYBPC3 | c.3490+8A>C (n.3490+8A>C) c.3472+8A>C (n.3472+8A>C) c.3409+8A>C (n.3409+8A>C) | dbSNP |
11 | g.47332806T= | CA1969334533 | MYBPC3 | c.3490+8A= (n.3490+8A=) c.3472+8A= (n.3472+8A=) c.3409+8A= (n.3409+8A=) | |
11 | g.47332806_47332811delinsTACAGC | CA1969334535 | MYBPC3 | c.3490+3_3490+8delinsGCTGTA (n.3490+3_3490+8delinsGCTGTA) c.3472+3_3472+8delinsGCTGTA (n.3472+3_3472+8delinsGCTGTA) c.3409+3_3409+8delinsGCTGTA (n.3409+3_3409+8delinsGCTGTA) | |
11 | g.47332807A= | CA1969334536 | MYBPC3 | c.3490+7T= (n.3490+7T=) c.3472+7T= (n.3472+7T=) c.3409+7T= (n.3409+7T=) | |
11 | g.47332807A>T | CA1969334537 | MYBPC3 | c.3490+7T>A (n.3490+7T>A) c.3472+7T>A (n.3472+7T>A) c.3409+7T>A (n.3409+7T>A) | dbSNP |
11 | g.47332809_47332813del | CA079398 | MYBPC3 | c.3490+3_3490+7del (n.3490+3_3490+7del) c.3472+3_3472+7del (n.3472+3_3472+7del) c.3409+3_3409+7del (n.3409+3_3409+7del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332808C= | CA1969334541 | MYBPC3 | c.3490+6G= (n.3490+6G=) c.3472+6G= (n.3472+6G=) c.3409+6G= (n.3409+6G=) | |
11 | g.47332808C>T | CA014248 | MYBPC3 | c.3490+6G>A (n.3490+6G>A) c.3472+6G>A (n.3472+6G>A) c.3409+6G>A (n.3409+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332809A>G | CA2613392576 | MYBPC3 | c.3490+5T>C (n.3490+5T>C) c.3472+5T>C (n.3472+5T>C) c.3409+5T>C (n.3409+5T>C) | gnomAD v4 |
11 | g.47332810G>A | CA2613392577 | MYBPC3 | c.3490+4C>T (n.3490+4C>T) c.3472+4C>T (n.3472+4C>T) c.3409+4C>T (n.3409+4C>T) | gnomAD v4 |
11 | g.47332810G>T | CA2613392578 | MYBPC3 | c.3490+4C>A (n.3490+4C>A) c.3472+4C>A (n.3472+4C>A) c.3409+4C>A (n.3409+4C>A) | gnomAD v4 |
11 | g.47332811C>A | CA2613392579 | MYBPC3 | c.3490+3G>T (n.3490+3G>T) c.3472+3G>T (n.3472+3G>T) c.3409+3G>T (n.3409+3G>T) | gnomAD v4 |
11 | g.47332811C= | CA1969334543 | MYBPC3 | c.3490+3G= (n.3490+3G=) c.3472+3G= (n.3472+3G=) c.3409+3G= (n.3409+3G=) | |
11 | g.47332811C>T | CA054080 | MYBPC3 | c.3490+3G>A (n.3490+3G>A) c.3472+3G>A (n.3472+3G>A) c.3409+3G>A (n.3409+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332812A= | CA1969334549 | MYBPC3 | c.3490+2T= (n.3490+2T=) c.3472+2T= (n.3472+2T=) c.3409+2T= (n.3409+2T=) | |
11 | g.47332812A>C | CA380312993 | MYBPC3 | c.3490+2T>G (n.3490+2T>G) c.3472+2T>G (n.3472+2T>G) c.3409+2T>G (n.3409+2T>G) | |
11 | g.47332812A>G | CA221682165 | MYBPC3 | c.3490+2T>C (n.3490+2T>C) c.3472+2T>C (n.3472+2T>C) c.3409+2T>C (n.3409+2T>C) | dbSNP |
11 | g.47332812A>T | CA221682169 | MYBPC3 | c.3490+2T>A (n.3490+2T>A) c.3472+2T>A (n.3472+2T>A) c.3409+2T>A (n.3409+2T>A) | dbSNP |
11 | g.47332813C>A | CA014240 | MYBPC3 | c.3490+1G>T (n.3490+1G>T) c.3472+1G>T (n.3472+1G>T) c.3409+1G>T (n.3409+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332813C= | CA1969334552 | MYBPC3 | c.3490+1G= (n.3490+1G=) c.3472+1G= (n.3472+1G=) c.3409+1G= (n.3409+1G=) | |
11 | g.47332813C>G | CA380312998 | MYBPC3 | c.3490+1G>C (n.3490+1G>C) c.3472+1G>C (n.3472+1G>C) c.3409+1G>C (n.3409+1G>C) | dbSNP gnomAD v4 |
11 | g.47332813C>T | CA014233 | MYBPC3 | c.3490+1G>A (n.3490+1G>A) c.3472+1G>A (n.3472+1G>A) c.3409+1G>A (n.3409+1G>A) | ClinVar dbSNP |
11 | g.47332813_47332816del | CA2499220959 | MYBPC3 | c.3488_3490+1del c.3470_3472+1del c.3407_3409+1del | dbSNP |
11 | g.47332814C>A | CA380313001 | MYBPC3 | c.3490G>T (p.Gly1164Cys) c.3472G>T (p.Gly1158Cys) c.3409G>T (p.Gly1137Cys) | |
11 | g.47332814C= | CA1969334554 | MYBPC3 | c.3490G= (p.Gly1164=) c.3472G= (p.Gly1158=) c.3409G= (p.Gly1137=) | |
11 | g.47332814C>G | CA380313003 | MYBPC3 | c.3490G>C (p.Gly1164Arg) c.3472G>C (p.Gly1158Arg) c.3409G>C (p.Gly1137Arg) | ClinVar dbSNP |
11 | g.47332814C>T | CA054061 | MYBPC3 | c.3490G>A (p.Gly1164Ser) c.3472G>A (p.Gly1158Ser) c.3409G>A (p.Gly1137Ser) | |
11 | g.47332815T>A | CA474429006 | MYBPC3 | c.3489A>T (p.Pro1163=) c.3471A>T (p.Pro1157=) c.3408A>T (p.Pro1136=) | |
11 | g.47332815T>C | CA474429007 | MYBPC3 | c.3489A>G (p.Pro1163=) c.3471A>G (p.Pro1157=) c.3408A>G (p.Pro1136=) | |
11 | g.47332815T>G | CA474429008 | MYBPC3 | c.3489A>C (p.Pro1163=) c.3471A>C (p.Pro1157=) c.3408A>C (p.Pro1136=) | |
11 | g.47332816G>A | CA380313008 | MYBPC3 | c.3488C>T (p.Pro1163Leu) c.3470C>T (p.Pro1157Leu) c.3407C>T (p.Pro1136Leu) | dbSNP |
11 | g.47332816G>C | CA380313011 | MYBPC3 | c.3488C>G (p.Pro1163Arg) c.3470C>G (p.Pro1157Arg) c.3407C>G (p.Pro1136Arg) | |
11 | g.47332816G= | CA1969334558 | MYBPC3 | c.3488C= (p.Pro1163=) c.3470C= (p.Pro1157=) c.3407C= (p.Pro1136=) | |
11 | g.47332816G>T | CA380313012 | MYBPC3 | c.3488C>A (p.Pro1163Gln) c.3470C>A (p.Pro1157Gln) c.3407C>A (p.Pro1136Gln) | |
11 | g.47332817del | CA2613392580 | MYBPC3 | c.3488del (p.Pro1163GlnfsTer26) c.3470del (p.Pro1157GlnfsTer26) c.3407del (p.Pro1136GlnfsTer26) | gnomAD v4 |
11 | g.47332817G>A | CA380313015 | MYBPC3 | c.3487C>T (p.Pro1163Ser) c.3469C>T (p.Pro1157Ser) c.3406C>T (p.Pro1136Ser) | |
11 | g.47332817G>C | CA380313018 | MYBPC3 | c.3487C>G (p.Pro1163Ala) c.3469C>G (p.Pro1157Ala) c.3406C>G (p.Pro1136Ala) | |
11 | g.47332817G>T | CA380313016 | MYBPC3 | c.3487C>A (p.Pro1163Thr) c.3469C>A (p.Pro1157Thr) c.3406C>A (p.Pro1136Thr) | |
11 | g.47332818T>A | CA014224 | MYBPC3 | c.3486A>T (p.Arg1162Ser) c.3468A>T (p.Arg1156Ser) c.3405A>T (p.Arg1135Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332818T>C | CA474429012 | MYBPC3 | c.3486A>G (p.Arg1162=) c.3468A>G (p.Arg1156=) c.3405A>G (p.Arg1135=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332818T>G | CA380313022 | MYBPC3 | c.3486A>C (p.Arg1162Ser) c.3468A>C (p.Arg1156Ser) c.3405A>C (p.Arg1135Ser) | |
11 | g.47332818T= | CA1969334563 | MYBPC3 | c.3486A= (p.Arg1162=) c.3468A= (p.Arg1156=) c.3405A= (p.Arg1135=) | |
11 | g.47332819C>A | CA380313025 | MYBPC3 | c.3485G>T (p.Arg1162Ile) c.3467G>T (p.Arg1156Ile) c.3404G>T (p.Arg1135Ile) | |
11 | g.47332819C= | CA1969334566 | MYBPC3 | c.3485G= (p.Arg1162=) c.3467G= (p.Arg1156=) c.3404G= (p.Arg1135=) | |
11 | g.47332819C>G | CA380313027 | MYBPC3 | c.3485G>C (p.Arg1162Thr) c.3467G>C (p.Arg1156Thr) c.3404G>C (p.Arg1135Thr) | |
11 | g.47332819C>T | CA221682184 | MYBPC3 | c.3485G>A (p.Arg1162Lys) c.3467G>A (p.Arg1156Lys) c.3404G>A (p.Arg1135Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332820T>A | CA380313031 | MYBPC3 | c.3484A>T (p.Arg1162Ter) c.3466A>T (p.Arg1156Ter) c.3403A>T (p.Arg1135Ter) | |
11 | g.47332820T>C | CA380313033 | MYBPC3 | c.3484A>G (p.Arg1162Gly) c.3466A>G (p.Arg1156Gly) c.3403A>G (p.Arg1135Gly) | |
11 | g.47332820T>G | CA474429014 | MYBPC3 | c.3484A>C (p.Arg1162=) c.3466A>C (p.Arg1156=) c.3403A>C (p.Arg1135=) | |
11 | g.47332821G>A | CA474429016 | MYBPC3 | c.3483C>T (p.Pro1161=) c.3465C>T (p.Pro1155=) c.3402C>T (p.Pro1134=) | |
11 | g.47332821G>C | CA474429017 | MYBPC3 | c.3483C>G (p.Pro1161=) c.3465C>G (p.Pro1155=) c.3402C>G (p.Pro1134=) | dbSNP |
11 | g.47332821G= | CA1969334571 | MYBPC3 | c.3483C= (p.Pro1161=) c.3465C= (p.Pro1155=) c.3402C= (p.Pro1134=) | |
11 | g.47332821G>T | CA474429018 | MYBPC3 | c.3483C>A (p.Pro1161=) c.3465C>A (p.Pro1155=) c.3402C>A (p.Pro1134=) | gnomAD v4 COSMIC COSMIC |
11 | g.47332822G>A | CA380313036 | MYBPC3 | c.3482C>T (p.Pro1161Leu) c.3464C>T (p.Pro1155Leu) c.3401C>T (p.Pro1134Leu) | |
11 | g.47332822G>C | CA380313037 | MYBPC3 | c.3482C>G (p.Pro1161Arg) c.3464C>G (p.Pro1155Arg) c.3401C>G (p.Pro1134Arg) | |
11 | g.47332822G>T | CA380313039 | MYBPC3 | c.3482C>A (p.Pro1161His) c.3464C>A (p.Pro1155His) c.3401C>A (p.Pro1134His) | gnomAD v4 COSMIC COSMIC |
11 | g.47332822_47332832delinsGGGATAAAGAC | CA1969334574 | MYBPC3 | c.3472_3482delinsGTCTTTATCCC (p.Val1158=) c.3454_3464delinsGTCTTTATCCC (p.Val1152=) c.3391_3401delinsGTCTTTATCCC (p.Val1131=) | |
11 | g.47332823G>A | CA380313046 | MYBPC3 | c.3481C>T (p.Pro1161Ser) c.3463C>T (p.Pro1155Ser) c.3400C>T (p.Pro1134Ser) | gnomAD v4 |
11 | g.47332823G>C | CA380313044 | MYBPC3 | c.3481C>G (p.Pro1161Ala) c.3463C>G (p.Pro1155Ala) c.3400C>G (p.Pro1134Ala) | |
11 | g.47332823G>T | CA380313048 | MYBPC3 | c.3481C>A (p.Pro1161Thr) c.3463C>A (p.Pro1155Thr) c.3400C>A (p.Pro1134Thr) | gnomAD v4 |
11 | g.47332825_47332834del | CA014187 | MYBPC3 | c.3472_3481del (p.Val1158ProfsTer28) c.3454_3463del (p.Val1152ProfsTer28) c.3391_3400del (p.Val1131ProfsTer28) | ClinVar dbSNP |
11 | g.47332824G>A | CA079391 | MYBPC3 | c.3480C>T (p.Ile1160=) c.3462C>T (p.Ile1154=) c.3399C>T (p.Ile1133=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332824G>C | CA380313053 | MYBPC3 | c.3480C>G (p.Ile1160Met) c.3462C>G (p.Ile1154Met) c.3399C>G (p.Ile1133Met) | gnomAD v4 |
11 | g.47332824G= | CA1969334579 | MYBPC3 | c.3480C= (p.Ile1160=) c.3462C= (p.Ile1154=) c.3399C= (p.Ile1133=) | |
11 | g.47332824G>T | CA474429020 | MYBPC3 | c.3480C>A (p.Ile1160=) c.3462C>A (p.Ile1154=) c.3399C>A (p.Ile1133=) | gnomAD v4 |
11 | g.47332825A>C | CA380313061 | MYBPC3 | c.3479T>G (p.Ile1160Ser) c.3461T>G (p.Ile1154Ser) c.3398T>G (p.Ile1133Ser) | |
11 | g.47332825A>G | CA380313063 | MYBPC3 | c.3479T>C (p.Ile1160Thr) c.3461T>C (p.Ile1154Thr) c.3398T>C (p.Ile1133Thr) | |
11 | g.47332825A>T | CA380313064 | MYBPC3 | c.3479T>A (p.Ile1160Asn) c.3461T>A (p.Ile1154Asn) c.3398T>A (p.Ile1133Asn) | gnomAD v4 |
11 | g.47332826_47332829dup | CA261323 | MYBPC3 | c.3476_3479dup (p.Pro1161TyrfsTer9) c.3458_3461dup (p.Pro1155TyrfsTer9) c.3395_3398dup (p.Pro1134TyrfsTer9) | ClinVar dbSNP gnomAD v4 |
11 | g.47332826T>A | CA380313068 | MYBPC3 | c.3478A>T (p.Ile1160Phe) c.3460A>T (p.Ile1154Phe) c.3397A>T (p.Ile1133Phe) | gnomAD v4 |
11 | g.47332826T>C | CA380313070 | MYBPC3 | c.3478A>G (p.Ile1160Val) c.3460A>G (p.Ile1154Val) c.3397A>G (p.Ile1133Val) | gnomAD v4 |
11 | g.47332826T>G | CA380313072 | MYBPC3 | c.3478A>C (p.Ile1160Leu) c.3460A>C (p.Ile1154Leu) c.3397A>C (p.Ile1133Leu) | |
11 | g.47332826_47332828delinsTAA | CA1969334585 | MYBPC3 | c.3476_3478delinsTTA (p.Phe1159=) c.3458_3460delinsTTA (p.Phe1153=) c.3395_3397delinsTTA (p.Phe1132=) | |
11 | g.47332827A= | CA1969334593 | MYBPC3 | c.3477T= (p.Phe1159=) c.3459T= (p.Phe1153=) c.3396T= (p.Phe1132=) | |
11 | g.47332827A>C | CA380313080 | MYBPC3 | c.3477T>G (p.Phe1159Leu) c.3459T>G (p.Phe1153Leu) c.3396T>G (p.Phe1132Leu) | |
11 | g.47332827A>G | CA10576882 | MYBPC3 | c.3477T>C (p.Phe1159=) c.3459T>C (p.Phe1153=) c.3396T>C (p.Phe1132=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332827A>T | CA380313077 | MYBPC3 | c.3477T>A (p.Phe1159Leu) c.3459T>A (p.Phe1153Leu) c.3396T>A (p.Phe1132Leu) | |
11 | g.47332828_47332829insTAAA | CA2739291461 | MYBPC3 | c.3477_3478insTATT (p.Ile1160TyrfsTer10) c.3459_3460insTATT (p.Ile1154TyrfsTer10) c.3396_3397insTATT (p.Ile1133TyrfsTer10) | |
11 | g.47332828_47332829del | CA014212 | MYBPC3 | c.3476_3477del (p.Phe1159TyrfsTer9) c.3458_3459del (p.Phe1153TyrfsTer9) c.3395_3396del (p.Phe1132TyrfsTer9) | ClinVar dbSNP |
11 | g.47332828A>C | CA380313084 | MYBPC3 | c.3476T>G (p.Phe1159Cys) c.3458T>G (p.Phe1153Cys) c.3395T>G (p.Phe1132Cys) | COSMIC COSMIC |
11 | g.47332828A>G | CA380313086 | MYBPC3 | c.3476T>C (p.Phe1159Ser) c.3458T>C (p.Phe1153Ser) c.3395T>C (p.Phe1132Ser) | |
11 | g.47332828A>T | CA380313088 | MYBPC3 | c.3476T>A (p.Phe1159Tyr) c.3458T>A (p.Phe1153Tyr) c.3395T>A (p.Phe1132Tyr) | |
11 | g.47332829_47332830insATAA | CA915948129 | MYBPC3 | c.3476_3477insATTT (p.Phe1159LeufsTer11) c.3458_3459insATTT (p.Phe1153LeufsTer11) c.3395_3396insATTT (p.Phe1132LeufsTer11) | ClinVar dbSNP |
11 | g.47332829A>C | CA380313091 | MYBPC3 | c.3475T>G (p.Phe1159Val) c.3457T>G (p.Phe1153Val) c.3394T>G (p.Phe1132Val) | |
11 | g.47332829A>G | CA380313093 | MYBPC3 | c.3475T>C (p.Phe1159Leu) c.3457T>C (p.Phe1153Leu) c.3394T>C (p.Phe1132Leu) | |
11 | g.47332829A>T | CA380313095 | MYBPC3 | c.3475T>A (p.Phe1159Ile) c.3457T>A (p.Phe1153Ile) c.3394T>A (p.Phe1132Ile) | |
11 | g.47332830G>A | CA474429023 | MYBPC3 | c.3474C>T (p.Val1158=) c.3456C>T (p.Val1152=) c.3393C>T (p.Val1131=) | |
11 | g.47332830G>C | CA474429024 | MYBPC3 | c.3474C>G (p.Val1158=) c.3456C>G (p.Val1152=) c.3393C>G (p.Val1131=) | |
11 | g.47332830G>T | CA474429025 | MYBPC3 | c.3474C>A (p.Val1158=) c.3456C>A (p.Val1152=) c.3393C>A (p.Val1131=) | gnomAD v4 |
11 | g.47332831A>C | CA380313097 | MYBPC3 | c.3473T>G (p.Val1158Gly) c.3455T>G (p.Val1152Gly) c.3392T>G (p.Val1131Gly) | |
11 | g.47332831A>G | CA380313099 | MYBPC3 | c.3473T>C (p.Val1158Ala) c.3455T>C (p.Val1152Ala) c.3392T>C (p.Val1131Ala) | gnomAD v4 |
11 | g.47332831A>T | CA380313100 | MYBPC3 | c.3473T>A (p.Val1158Asp) c.3455T>A (p.Val1152Asp) c.3392T>A (p.Val1131Asp) | |
11 | g.47332831_47332832insG | CA2695213912 | MYBPC3 | c.3472_3473insC (p.Val1158AlafsTer11) c.3454_3455insC (p.Val1152AlafsTer11) c.3391_3392insC (p.Val1131AlafsTer11) | |
11 | g.47332832C>A | CA380313103 | MYBPC3 | c.3472G>T (p.Val1158Phe) c.3454G>T (p.Val1152Phe) c.3391G>T (p.Val1131Phe) | |
11 | g.47332832C= | CA1969334597 | MYBPC3 | c.3472G= (p.Val1158=) c.3454G= (p.Val1152=) c.3391G= (p.Val1131=) | |
11 | g.47332832C>G | CA380313104 | MYBPC3 | c.3472G>C (p.Val1158Leu) c.3454G>C (p.Val1152Leu) c.3391G>C (p.Val1131Leu) | |
11 | g.47332832C>T | CA014206 | MYBPC3 | c.3472G>A (p.Val1158Ile) c.3454G>A (p.Val1152Ile) c.3391G>A (p.Val1131Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332833G>A | CA221682200 | MYBPC3 | c.3471C>T (p.Pro1157=) c.3453C>T (p.Pro1151=) c.3390C>T (p.Pro1130=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332833G>C | CA474429027 | MYBPC3 | c.3471C>G (p.Pro1157=) c.3453C>G (p.Pro1151=) c.3390C>G (p.Pro1130=) | |
11 | g.47332833G= | CA1969334599 | MYBPC3 | c.3471C= (p.Pro1157=) c.3453C= (p.Pro1151=) c.3390C= (p.Pro1130=) | |
11 | g.47332833G>T | CA474429029 | MYBPC3 | c.3471C>A (p.Pro1157=) c.3453C>A (p.Pro1151=) c.3390C>A (p.Pro1130=) | gnomAD v4 |
11 | g.47332835dup | CA2580084214 | MYBPC3 | c.3471dup (p.Val1158ArgfsTer11) c.3453dup (p.Val1152ArgfsTer11) c.3390dup (p.Val1131ArgfsTer11) | ClinVar gnomAD v4 |
11 | g.47332835del | CA1139768904 | MYBPC3 | c.3471del (p.Val1158SerfsTer?) c.3453del (p.Val1152SerfsTer?) c.3390del (p.Val1131SerfsTer?) | ClinVar |
11 | g.47332834G>A | CA079387 | MYBPC3 | c.3470C>T (p.Pro1157Leu) c.3452C>T (p.Pro1151Leu) c.3389C>T (p.Pro1130Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332834G>C | CA380313112 | MYBPC3 | c.3470C>G (p.Pro1157Arg) c.3452C>G (p.Pro1151Arg) c.3389C>G (p.Pro1130Arg) | |
11 | g.47332834G= | CA1969334601 | MYBPC3 | c.3470C= (p.Pro1157=) c.3452C= (p.Pro1151=) c.3389C= (p.Pro1130=) | |
11 | g.47332834G>T | CA380313109 | MYBPC3 | c.3470C>A (p.Pro1157His) c.3452C>A (p.Pro1151His) c.3389C>A (p.Pro1130His) | |
11 | g.47332835G>A | CA380313117 | MYBPC3 | c.3469C>T (p.Pro1157Ser) c.3451C>T (p.Pro1151Ser) c.3388C>T (p.Pro1130Ser) | gnomAD v4 |
11 | g.47332835G>C | CA014178 | MYBPC3 | c.3469C>G (p.Pro1157Ala) c.3451C>G (p.Pro1151Ala) c.3388C>G (p.Pro1130Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47332835G= | CA1969334603 | MYBPC3 | c.3469C= (p.Pro1157=) c.3451C= (p.Pro1151=) c.3388C= (p.Pro1130=) | |
11 | g.47332835G>T | CA380313119 | MYBPC3 | c.3469C>A (p.Pro1157Thr) c.3451C>A (p.Pro1151Thr) c.3388C>A (p.Pro1130Thr) | gnomAD v4 |
11 | g.47332836C>A | CA380313124 | MYBPC3 | c.3468G>T (p.Glu1156Asp) c.3450G>T (p.Glu1150Asp) c.3387G>T (p.Glu1129Asp) | |
11 | g.47332836C= | CA1969334606 | MYBPC3 | c.3468G= (p.Glu1156=) c.3450G= (p.Glu1150=) c.3387G= (p.Glu1129=) | |
11 | g.47332836C>G | CA380313126 | MYBPC3 | c.3468G>C (p.Glu1156Asp) c.3450G>C (p.Glu1150Asp) c.3387G>C (p.Glu1129Asp) | |
11 | g.47332836C>T | CA474429032 | MYBPC3 | c.3468G>A (p.Glu1156=) c.3450G>A (p.Glu1150=) c.3387G>A (p.Glu1129=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332837T>A | CA380313131 | MYBPC3 | c.3467A>T (p.Glu1156Val) c.3449A>T (p.Glu1150Val) c.3386A>T (p.Glu1129Val) | |
11 | g.47332837T>C | CA380313133 | MYBPC3 | c.3467A>G (p.Glu1156Gly) c.3449A>G (p.Glu1150Gly) c.3386A>G (p.Glu1129Gly) | ClinVar |
11 | g.47332837T>G | CA380313135 | MYBPC3 | c.3467A>C (p.Glu1156Ala) c.3449A>C (p.Glu1150Ala) c.3386A>C (p.Glu1129Ala) | |
11 | g.47332837dup | CA296496 | MYBPC3 | c.3467dup (p.Pro1157AlafsTer12) c.3449dup (p.Pro1151AlafsTer12) c.3386dup (p.Pro1130AlafsTer12) | ClinVar dbSNP gnomAD v4 |
11 | g.47332837_47332849delinsTCCTTGGTGGTGG | CA1969334608 | MYBPC3 | c.3455_3467delinsCCACCACCAAGGA (p.Ala1152=) c.3437_3449delinsCCACCACCAAGGA (p.Ala1146=) c.3374_3386delinsCCACCACCAAGGA (p.Ala1125=) | |
11 | g.47332838C>A | CA380313138 | MYBPC3 | c.3466G>T (p.Glu1156Ter) c.3448G>T (p.Glu1150Ter) c.3385G>T (p.Glu1129Ter) | ClinVar |
11 | g.47332838C= | CA1969334609 | MYBPC3 | c.3466G= (p.Glu1156=) c.3448G= (p.Glu1150=) c.3385G= (p.Glu1129=) | |
11 | g.47332838C>G | CA380313140 | MYBPC3 | c.3466G>C (p.Glu1156Gln) c.3448G>C (p.Glu1150Gln) c.3385G>C (p.Glu1129Gln) | |
11 | g.47332838C>T | CA380313142 | MYBPC3 | c.3466G>A (p.Glu1156Lys) c.3448G>A (p.Glu1150Lys) c.3385G>A (p.Glu1129Lys) | ClinVar dbSNP gnomAD v4 |
11 | g.47332839del | CA2580084215 | MYBPC3 | c.3466del (p.Glu1156SerfsTer?) c.3448del (p.Glu1150SerfsTer?) c.3385del (p.Glu1129SerfsTer?) | ClinVar |
11 | g.47332840_47332851del | CA677014121 | MYBPC3 | c.3455_3466del (p.Ala1152_Lys1155del) c.3437_3448del (p.Ala1146_Lys1149del) c.3374_3385del (p.Ala1125_Lys1128del) | dbSNP gnomAD v4 |
11 | g.47332839C>A | CA380313144 | MYBPC3 | c.3465G>T (p.Lys1155Asn) c.3447G>T (p.Lys1149Asn) c.3384G>T (p.Lys1128Asn) | |
11 | g.47332839C>G | CA380313146 | MYBPC3 | c.3465G>C (p.Lys1155Asn) c.3447G>C (p.Lys1149Asn) c.3384G>C (p.Lys1128Asn) | |
11 | g.47332839C>T | CA474429036 | MYBPC3 | c.3465G>A (p.Lys1155=) c.3447G>A (p.Lys1149=) c.3384G>A (p.Lys1128=) | |
11 | g.47332840T>A | CA380313153 | MYBPC3 | c.3464A>T (p.Lys1155Met) c.3446A>T (p.Lys1149Met) c.3383A>T (p.Lys1128Met) | |
11 | g.47332840T>C | CA380313151 | MYBPC3 | c.3464A>G (p.Lys1155Arg) c.3446A>G (p.Lys1149Arg) c.3383A>G (p.Lys1128Arg) | |
11 | g.47332840T>G | CA380313149 | MYBPC3 | c.3464A>C (p.Lys1155Thr) c.3446A>C (p.Lys1149Thr) c.3383A>C (p.Lys1128Thr) | |
11 | g.47332840_47332843delinsTTGG | CA1969334612 | MYBPC3 | c.3461_3464delinsCCAA (p.Thr1154=) c.3443_3446delinsCCAA (p.Thr1148=) c.3380_3383delinsCCAA (p.Thr1127=) | |
11 | g.47332841T>A | CA380313156 | MYBPC3 | c.3463A>T (p.Lys1155Ter) c.3445A>T (p.Lys1149Ter) c.3382A>T (p.Lys1128Ter) | |
11 | g.47332841T>C | CA079384 | MYBPC3 | c.3463A>G (p.Lys1155Glu) c.3445A>G (p.Lys1149Glu) c.3382A>G (p.Lys1128Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332841T>G | CA380313160 | MYBPC3 | c.3463A>C (p.Lys1155Gln) c.3445A>C (p.Lys1149Gln) c.3382A>C (p.Lys1128Gln) | |
11 | g.47332841T= | CA1969334614 | MYBPC3 | c.3463A= (p.Lys1155=) c.3445A= (p.Lys1149=) c.3382A= (p.Lys1128=) | |
11 | g.47332847_47332849del | CA599374171 | MYBPC3 | c.3461_3463del (p.Thr1154del) c.3443_3445del (p.Thr1148del) c.3380_3382del (p.Thr1127del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332842G>A | CA474429000 | MYBPC3 | c.3462C>T (p.Thr1154=) c.3444C>T (p.Thr1148=) c.3381C>T (p.Thr1127=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332842G>C | CA474429001 | MYBPC3 | c.3462C>G (p.Thr1154=) c.3444C>G (p.Thr1148=) c.3381C>G (p.Thr1127=) | |
11 | g.47332842G>T | CA474429002 | MYBPC3 | c.3462C>A (p.Thr1154=) c.3444C>A (p.Thr1148=) c.3381C>A (p.Thr1127=) | gnomAD v4 |
11 | g.47332843G>A | CA079382 | MYBPC3 | c.3461C>T (p.Thr1154Ile) c.3443C>T (p.Thr1148Ile) c.3380C>T (p.Thr1127Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332843G>C | CA380313164 | MYBPC3 | c.3461C>G (p.Thr1154Ser) c.3443C>G (p.Thr1148Ser) c.3380C>G (p.Thr1127Ser) | ClinVar dbSNP |
11 | g.47332843G= | CA1969334616 | MYBPC3 | c.3461C= (p.Thr1154=) c.3443C= (p.Thr1148=) c.3380C= (p.Thr1127=) | |
11 | g.47332843G>T | CA380313167 | MYBPC3 | c.3461C>A (p.Thr1154Asn) c.3443C>A (p.Thr1148Asn) c.3380C>A (p.Thr1127Asn) | |
11 | g.47332844T>A | CA380313169 | MYBPC3 | c.3460A>T (p.Thr1154Ser) c.3442A>T (p.Thr1148Ser) c.3379A>T (p.Thr1127Ser) | |
11 | g.47332844T>C | CA053965 | MYBPC3 | c.3460A>G (p.Thr1154Ala) c.3442A>G (p.Thr1148Ala) c.3379A>G (p.Thr1127Ala) | |
11 | g.47332844T>G | CA380313172 | MYBPC3 | c.3460A>C (p.Thr1154Pro) c.3442A>C (p.Thr1148Pro) c.3379A>C (p.Thr1127Pro) | |
11 | g.47332844delinsAG | CA2582341869 | MYBPC3 | c.3460delinsCT (p.Thr1154LeufsTer15) c.3442delinsCT (p.Thr1148LeufsTer15) c.3379delinsCT (p.Thr1127LeufsTer15) | ClinVar |
11 | g.47332845G>A | CA474429003 | MYBPC3 | c.3459C>T (p.Thr1153=) c.3441C>T (p.Thr1147=) c.3378C>T (p.Thr1126=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332845G>C | CA474429004 | MYBPC3 | c.3459C>G (p.Thr1153=) c.3441C>G (p.Thr1147=) c.3378C>G (p.Thr1126=) | COSMIC COSMIC |
11 | g.47332845G= | CA1969334618 | MYBPC3 | c.3459C= (p.Thr1153=) c.3441C= (p.Thr1147=) c.3378C= (p.Thr1126=) | |
11 | g.47332845G>T | CA474429005 | MYBPC3 | c.3459C>A (p.Thr1153=) c.3441C>A (p.Thr1147=) c.3378C>A (p.Thr1126=) | gnomAD v4 |
11 | g.47332846G>A | CA053952 | MYBPC3 | c.3458C>T (p.Thr1153Ile) c.3440C>T (p.Thr1147Ile) c.3377C>T (p.Thr1126Ile) | |
11 | g.47332846G>C | CA380313175 | MYBPC3 | c.3458C>G (p.Thr1153Ser) c.3440C>G (p.Thr1147Ser) c.3377C>G (p.Thr1126Ser) | ClinVar dbSNP |
11 | g.47332846G= | CA1969334620 | MYBPC3 | c.3458C= (p.Thr1153=) c.3440C= (p.Thr1147=) c.3377C= (p.Thr1126=) | |
11 | g.47332846G>T | CA380313176 | MYBPC3 | c.3458C>A (p.Thr1153Asn) c.3440C>A (p.Thr1147Asn) c.3377C>A (p.Thr1126Asn) | |
11 | g.47332847T>A | CA079379 | MYBPC3 | c.3457A>T (p.Thr1153Ser) c.3439A>T (p.Thr1147Ser) c.3376A>T (p.Thr1126Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332847T>C | CA380313181 | MYBPC3 | c.3457A>G (p.Thr1153Ala) c.3439A>G (p.Thr1147Ala) c.3376A>G (p.Thr1126Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332847T>G | CA380313179 | MYBPC3 | c.3457A>C (p.Thr1153Pro) c.3439A>C (p.Thr1147Pro) c.3376A>C (p.Thr1126Pro) | |
11 | g.47332847T= | CA1969334623 | MYBPC3 | c.3457A= (p.Thr1153=) c.3439A= (p.Thr1147=) c.3376A= (p.Thr1126=) | |
11 | g.47332848G>A | CA474429011 | MYBPC3 | c.3456C>T (p.Ala1152=) c.3438C>T (p.Ala1146=) c.3375C>T (p.Ala1125=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332848G>C | CA474429010 | MYBPC3 | c.3456C>G (p.Ala1152=) c.3438C>G (p.Ala1146=) c.3375C>G (p.Ala1125=) | |
11 | g.47332848G= | CA1969334626 | MYBPC3 | c.3456C= (p.Ala1152=) c.3438C= (p.Ala1146=) c.3375C= (p.Ala1125=) | |
11 | g.47332848G>T | CA474429009 | MYBPC3 | c.3456C>A (p.Ala1152=) c.3438C>A (p.Ala1146=) c.3375C>A (p.Ala1125=) | |
11 | g.47332849G>A | CA380313190 | MYBPC3 | c.3455C>T (p.Ala1152Val) c.3437C>T (p.Ala1146Val) c.3374C>T (p.Ala1125Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332849G>C | CA380313186 | MYBPC3 | c.3455C>G (p.Ala1152Gly) c.3437C>G (p.Ala1146Gly) c.3374C>G (p.Ala1125Gly) | |
11 | g.47332849G= | CA1969334627 | MYBPC3 | c.3455C= (p.Ala1152=) c.3437C= (p.Ala1146=) c.3374C= (p.Ala1125=) | |
11 | g.47332849G>T | CA380313188 | MYBPC3 | c.3455C>A (p.Ala1152Asp) c.3437C>A (p.Ala1146Asp) c.3374C>A (p.Ala1125Asp) | |
11 | g.47332850C>A | CA053944 | MYBPC3 | c.3454G>T (p.Ala1152Ser) c.3436G>T (p.Ala1146Ser) c.3373G>T (p.Ala1125Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332850C= | CA1969334629 | MYBPC3 | c.3454G= (p.Ala1152=) c.3436G= (p.Ala1146=) c.3373G= (p.Ala1125=) | |
11 | g.47332850C>G | CA380313195 | MYBPC3 | c.3454G>C (p.Ala1152Pro) c.3436G>C (p.Ala1146Pro) c.3373G>C (p.Ala1125Pro) | |
11 | g.47332850C>T | CA380313197 | MYBPC3 | c.3454G>A (p.Ala1152Thr) c.3436G>A (p.Ala1146Thr) c.3373G>A (p.Ala1125Thr) | gnomAD v4 |
11 | g.47332851C>A | CA474429013 | MYBPC3 | c.3453G>T (p.Ala1151=) c.3435G>T (p.Ala1145=) c.3372G>T (p.Ala1124=) | dbSNP gnomAD v4 |
11 | g.47332851C= | CA1969334632 | MYBPC3 | c.3453G= (p.Ala1151=) c.3435G= (p.Ala1145=) c.3372G= (p.Ala1124=) | |
11 | g.47332851C>G | CA474429015 | MYBPC3 | c.3453G>C (p.Ala1151=) c.3435G>C (p.Ala1145=) c.3372G>C (p.Ala1124=) | |
11 | g.47332851C>T | CA221682220 | MYBPC3 | c.3453G>A (p.Ala1151=) c.3435G>A (p.Ala1145=) c.3372G>A (p.Ala1124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332852G>A | CA079375 | MYBPC3 | c.3452C>T (p.Ala1151Val) c.3434C>T (p.Ala1145Val) c.3371C>T (p.Ala1124Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332852G>C | CA380313202 | MYBPC3 | c.3452C>G (p.Ala1151Gly) c.3434C>G (p.Ala1145Gly) c.3371C>G (p.Ala1124Gly) | |
11 | g.47332852G= | CA1969334633 | MYBPC3 | c.3452C= (p.Ala1151=) c.3434C= (p.Ala1145=) c.3371C= (p.Ala1124=) | |
11 | g.47332852G>T | CA380313204 | MYBPC3 | c.3452C>A (p.Ala1151Glu) c.3434C>A (p.Ala1145Glu) c.3371C>A (p.Ala1124Glu) | gnomAD v4 |
11 | g.47332853C>A | CA053935 | MYBPC3 | c.3451G>T (p.Ala1151Ser) c.3433G>T (p.Ala1145Ser) c.3370G>T (p.Ala1124Ser) | |
11 | g.47332853C>G | CA380313208 | MYBPC3 | c.3451G>C (p.Ala1151Pro) c.3433G>C (p.Ala1145Pro) c.3370G>C (p.Ala1124Pro) | |
11 | g.47332853C>T | CA380313210 | MYBPC3 | c.3451G>A (p.Ala1151Thr) c.3433G>A (p.Ala1145Thr) c.3370G>A (p.Ala1124Thr) | |
11 | g.47332855_47332856del | CA2573051140 | MYBPC3 | c.3450_3451del (p.Arg1150SerfsTer18) c.3432_3433del (p.Arg1144SerfsTer18) c.3369_3370del (p.Arg1123SerfsTer18) | |
11 | g.47332854T>A | CA380313213 | MYBPC3 | c.3450A>T (p.Arg1150Ser) c.3432A>T (p.Arg1144Ser) c.3369A>T (p.Arg1123Ser) | |
11 | g.47332854T>C | CA474429019 | MYBPC3 | c.3450A>G (p.Arg1150=) c.3432A>G (p.Arg1144=) c.3369A>G (p.Arg1123=) | |
11 | g.47332854T>G | CA380313215 | MYBPC3 | c.3450A>C (p.Arg1150Ser) c.3432A>C (p.Arg1144Ser) c.3369A>C (p.Arg1123Ser) | |
11 | g.47332855C>A | CA380313222 | MYBPC3 | c.3449G>T (p.Arg1150Ile) c.3431G>T (p.Arg1144Ile) c.3368G>T (p.Arg1123Ile) | |
11 | g.47332855C= | CA1969334636 | MYBPC3 | c.3449G= (p.Arg1150=) c.3431G= (p.Arg1144=) c.3368G= (p.Arg1123=) | |
11 | g.47332855C>G | CA380313219 | MYBPC3 | c.3449G>C (p.Arg1150Thr) c.3431G>C (p.Arg1144Thr) c.3368G>C (p.Arg1123Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332855C>T | CA079372 | MYBPC3 | c.3449G>A (p.Arg1150Lys) c.3431G>A (p.Arg1144Lys) c.3368G>A (p.Arg1123Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332856T>A | CA380313225 | MYBPC3 | c.3448A>T (p.Arg1150Ter) c.3430A>T (p.Arg1144Ter) c.3367A>T (p.Arg1123Ter) | |
11 | g.47332856T>C | CA380313226 | MYBPC3 | c.3448A>G (p.Arg1150Gly) c.3430A>G (p.Arg1144Gly) c.3367A>G (p.Arg1123Gly) | |
11 | g.47332856T>G | CA474429021 | MYBPC3 | c.3448A>C (p.Arg1150=) c.3430A>C (p.Arg1144=) c.3367A>C (p.Arg1123=) | |
11 | g.47332856dup | CA2613392582 | MYBPC3 | c.3448dup (p.Arg1150LysfsTer19) c.3430dup (p.Arg1144LysfsTer19) c.3367dup (p.Arg1123LysfsTer19) | gnomAD v4 |
11 | g.47332857G>A | CA221682228 | MYBPC3 | c.3447C>T (p.Asp1149=) c.3429C>T (p.Asp1143=) c.3366C>T (p.Asp1122=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332857G>C | CA380313228 | MYBPC3 | c.3447C>G (p.Asp1149Glu) c.3429C>G (p.Asp1143Glu) c.3366C>G (p.Asp1122Glu) | |
11 | g.47332857G= | CA1969334638 | MYBPC3 | c.3447C= (p.Asp1149=) c.3429C= (p.Asp1143=) c.3366C= (p.Asp1122=) | |
11 | g.47332857G>T | CA380313231 | MYBPC3 | c.3447C>A (p.Asp1149Glu) c.3429C>A (p.Asp1143Glu) c.3366C>A (p.Asp1122Glu) | |
11 | g.47332858T>A | CA380313233 | MYBPC3 | c.3446A>T (p.Asp1149Val) c.3428A>T (p.Asp1143Val) c.3365A>T (p.Asp1122Val) | ClinVar dbSNP |
11 | g.47332858T>C | CA380313236 | MYBPC3 | c.3446A>G (p.Asp1149Gly) c.3428A>G (p.Asp1143Gly) c.3365A>G (p.Asp1122Gly) | |
11 | g.47332858T>G | CA380313237 | MYBPC3 | c.3446A>C (p.Asp1149Ala) c.3428A>C (p.Asp1143Ala) c.3365A>C (p.Asp1122Ala) | |
11 | g.47332858T= | CA1969334639 | MYBPC3 | c.3446A= (p.Asp1149=) c.3428A= (p.Asp1143=) c.3365A= (p.Asp1122=) | |
11 | g.47332859C>A | CA380313241 | MYBPC3 | c.3445G>T (p.Asp1149Tyr) c.3427G>T (p.Asp1143Tyr) c.3364G>T (p.Asp1122Tyr) | gnomAD v4 |
11 | g.47332859C= | CA1969334641 | MYBPC3 | c.3445G= (p.Asp1149=) c.3427G= (p.Asp1143=) c.3364G= (p.Asp1122=) | |
11 | g.47332859C>G | CA380313243 | MYBPC3 | c.3445G>C (p.Asp1149His) c.3427G>C (p.Asp1143His) c.3364G>C (p.Asp1122His) | |
11 | g.47332859C>T | CA380313246 | MYBPC3 | c.3445G>A (p.Asp1149Asn) c.3427G>A (p.Asp1143Asn) c.3364G>A (p.Asp1122Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.47332860A= | CA1969334644 | MYBPC3 | c.3444T= (p.Ser1148=) c.3426T= (p.Ser1142=) c.3363T= (p.Ser1121=) | |
11 | g.47332860A>C | CA380313249 | MYBPC3 | c.3444T>G (p.Ser1148Arg) c.3426T>G (p.Ser1142Arg) c.3363T>G (p.Ser1121Arg) | dbSNP |
11 | g.47332860A>G | CA474429022 | MYBPC3 | c.3444T>C (p.Ser1148=) c.3426T>C (p.Ser1142=) c.3363T>C (p.Ser1121=) | |
11 | g.47332860A>T | CA380313251 | MYBPC3 | c.3444T>A (p.Ser1148Arg) c.3426T>A (p.Ser1142Arg) c.3363T>A (p.Ser1121Arg) | |
11 | g.47332861C>A | CA380313256 | MYBPC3 | c.3443G>T (p.Ser1148Ile) c.3425G>T (p.Ser1142Ile) c.3362G>T (p.Ser1121Ile) | |
11 | g.47332861C>G | CA380313259 | MYBPC3 | c.3443G>C (p.Ser1148Thr) c.3425G>C (p.Ser1142Thr) c.3362G>C (p.Ser1121Thr) | |
11 | g.47332861C>T | CA380313255 | MYBPC3 | c.3443G>A (p.Ser1148Asn) c.3425G>A (p.Ser1142Asn) c.3362G>A (p.Ser1121Asn) | |
11 | g.47332862T>A | CA380313262 | MYBPC3 | c.3442A>T (p.Ser1148Cys) c.3424A>T (p.Ser1142Cys) c.3361A>T (p.Ser1121Cys) | |
11 | g.47332862T>C | CA079369 | MYBPC3 | c.3442A>G (p.Ser1148Gly) c.3424A>G (p.Ser1142Gly) c.3361A>G (p.Ser1121Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332862T>G | CA079367 | MYBPC3 | c.3442A>C (p.Ser1148Arg) c.3424A>C (p.Ser1142Arg) c.3361A>C (p.Ser1121Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332862T= | CA1969334646 | MYBPC3 | c.3442A= (p.Ser1148=) c.3424A= (p.Ser1142=) c.3361A= (p.Ser1121=) | |
11 | g.47332863A= | CA1969334648 | MYBPC3 | c.3441T= (p.Phe1147=) c.3423T= (p.Phe1141=) c.3360T= (p.Phe1120=) | |
11 | g.47332863A>C | CA380313267 | MYBPC3 | c.3441T>G (p.Phe1147Leu) c.3423T>G (p.Phe1141Leu) c.3360T>G (p.Phe1120Leu) | |
11 | g.47332863A>G | CA474429026 | MYBPC3 | c.3441T>C (p.Phe1147=) c.3423T>C (p.Phe1141=) c.3360T>C (p.Phe1120=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332863A>T | CA380313269 | MYBPC3 | c.3441T>A (p.Phe1147Leu) c.3423T>A (p.Phe1141Leu) c.3360T>A (p.Phe1120Leu) | |
11 | g.47332863_47332865del | CA2534049854 | MYBPC3 | c.3439_3441del (p.Phe1147del) c.3421_3423del (p.Phe1141del) c.3358_3360del (p.Phe1120del) | |
11 | g.47332864_47332865del | CA2697548543 | MYBPC3 | c.3440_3441del (p.Phe1147Ter) c.3422_3423del (p.Phe1141Ter) c.3359_3360del (p.Phe1120Ter) | ClinVar |
11 | g.47332864A= | CA1969334650 | MYBPC3 | c.3440T= (p.Phe1147=) c.3422T= (p.Phe1141=) c.3359T= (p.Phe1120=) | |
11 | g.47332864A>C | CA380313276 | MYBPC3 | c.3440T>G (p.Phe1147Cys) c.3422T>G (p.Phe1141Cys) c.3359T>G (p.Phe1120Cys) | |
11 | g.47332864A>G | CA380313273 | MYBPC3 | c.3440T>C (p.Phe1147Ser) c.3422T>C (p.Phe1141Ser) c.3359T>C (p.Phe1120Ser) | dbSNP |
11 | g.47332864A>T | CA380313271 | MYBPC3 | c.3440T>A (p.Phe1147Tyr) c.3422T>A (p.Phe1141Tyr) c.3359T>A (p.Phe1120Tyr) | |
11 | g.47332865A>C | CA380313280 | MYBPC3 | c.3439T>G (p.Phe1147Val) c.3421T>G (p.Phe1141Val) c.3358T>G (p.Phe1120Val) | |
11 | g.47332865A>G | CA380313283 | MYBPC3 | c.3439T>C (p.Phe1147Leu) c.3421T>C (p.Phe1141Leu) c.3358T>C (p.Phe1120Leu) | |
11 | g.47332865A>T | CA380313286 | MYBPC3 | c.3439T>A (p.Phe1147Ile) c.3421T>A (p.Phe1141Ile) c.3358T>A (p.Phe1120Ile) | |
11 | g.47332866G>A | CA474429028 | MYBPC3 | c.3438C>T (p.Gly1146=) c.3420C>T (p.Gly1140=) c.3357C>T (p.Gly1119=) | ClinVar dbSNP gnomAD v2 |
11 | g.47332866G>C | CA474429030 | MYBPC3 | c.3438C>G (p.Gly1146=) c.3420C>G (p.Gly1140=) c.3357C>G (p.Gly1119=) | |
11 | g.47332866G= | CA1969334651 | MYBPC3 | c.3438C= (p.Gly1146=) c.3420C= (p.Gly1140=) c.3357C= (p.Gly1119=) | |
11 | g.47332866G>T | CA474429031 | MYBPC3 | c.3438C>A (p.Gly1146=) c.3420C>A (p.Gly1140=) c.3357C>A (p.Gly1119=) | |
11 | g.47332866_47332867insGG | CA2518752811 | MYBPC3 | c.3438_3439insCC (p.Phe1147ProfsTer?) c.3420_3421insCC (p.Phe1141ProfsTer?) c.3357_3358insCC (p.Phe1120ProfsTer?) | |
11 | g.47332867C>A | CA380313287 | MYBPC3 | c.3437G>T (p.Gly1146Val) c.3419G>T (p.Gly1140Val) c.3356G>T (p.Gly1119Val) | |
11 | g.47332867C= | CA1969334653 | MYBPC3 | c.3437G= (p.Gly1146=) c.3419G= (p.Gly1140=) c.3356G= (p.Gly1119=) | |
11 | g.47332867C>G | CA380313289 | MYBPC3 | c.3437G>C (p.Gly1146Ala) c.3419G>C (p.Gly1140Ala) c.3356G>C (p.Gly1119Ala) | |
11 | g.47332867C>T | CA221682236 | MYBPC3 | c.3437G>A (p.Gly1146Asp) c.3419G>A (p.Gly1140Asp) c.3356G>A (p.Gly1119Asp) | dbSNP |
11 | g.47332870_47332873dup | CA2695213913 | MYBPC3 | c.3434_3437dup (p.Phe1147TrpfsTer3) c.3416_3419dup (p.Phe1141TrpfsTer3) c.3353_3356dup (p.Phe1120TrpfsTer3) | |
11 | g.47332868C>A | CA380313300 | MYBPC3 | c.3436G>T (p.Gly1146Cys) c.3418G>T (p.Gly1140Cys) c.3355G>T (p.Gly1119Cys) | |
11 | g.47332868C>G | CA380313295 | MYBPC3 | c.3436G>C (p.Gly1146Arg) c.3418G>C (p.Gly1140Arg) c.3355G>C (p.Gly1119Arg) | |
11 | g.47332868C>T | CA380313297 | MYBPC3 | c.3436G>A (p.Gly1146Ser) c.3418G>A (p.Gly1140Ser) c.3355G>A (p.Gly1119Ser) | |
11 | g.47332869A= | CA1969334655 | MYBPC3 | c.3435T= (p.Val1145=) c.3417T= (p.Val1139=) c.3354T= (p.Val1118=) | |
11 | g.47332869A>C | CA474429033 | MYBPC3 | c.3435T>G (p.Val1145=) c.3417T>G (p.Val1139=) c.3354T>G (p.Val1118=) | dbSNP |
11 | g.47332869A>G | CA474429034 | MYBPC3 | c.3435T>C (p.Val1145=) c.3417T>C (p.Val1139=) c.3354T>C (p.Val1118=) | |
11 | g.47332869A>T | CA474429035 | MYBPC3 | c.3435T>A (p.Val1145=) c.3417T>A (p.Val1139=) c.3354T>A (p.Val1118=) | |
11 | g.47332869_47332870del | CA2502373318 | MYBPC3 | c.3434_3435del (p.Val1145GlyfsTer3) c.3416_3417del (p.Val1139GlyfsTer3) c.3353_3354del (p.Val1118GlyfsTer3) | |
11 | g.47332870dup | CA2739291462 | MYBPC3 | c.3435dup (p.Gly1146TrpfsTer3) c.3417dup (p.Gly1140TrpfsTer3) c.3354dup (p.Gly1119TrpfsTer3) | |
11 | g.47332870A>C | CA380313303 | MYBPC3 | c.3434T>G (p.Val1145Gly) c.3416T>G (p.Val1139Gly) c.3353T>G (p.Val1118Gly) | |
11 | g.47332870A>G | CA380313306 | MYBPC3 | c.3434T>C (p.Val1145Ala) c.3416T>C (p.Val1139Ala) c.3353T>C (p.Val1118Ala) | |
11 | g.47332870A>T | CA380313309 | MYBPC3 | c.3434T>A (p.Val1145Asp) c.3416T>A (p.Val1139Asp) c.3353T>A (p.Val1118Asp) | |
11 | g.47332871C>A | CA380313312 | MYBPC3 | c.3433G>T (p.Val1145Phe) c.3415G>T (p.Val1139Phe) c.3352G>T (p.Val1118Phe) | |
11 | g.47332871C= | CA1969334656 | MYBPC3 | c.3433G= (p.Val1145=) c.3415G= (p.Val1139=) c.3352G= (p.Val1118=) | |
11 | g.47332871C>G | CA380313315 | MYBPC3 | c.3433G>C (p.Val1145Leu) c.3415G>C (p.Val1139Leu) c.3352G>C (p.Val1118Leu) | |
11 | g.47332871C>T | CA079362 | MYBPC3 | c.3433G>A (p.Val1145Ile) c.3415G>A (p.Val1139Ile) c.3352G>A (p.Val1118Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332872C>A | CA380313322 | MYBPC3 | c.3432G>T (p.Met1144Ile) c.3414G>T (p.Met1138Ile) c.3351G>T (p.Met1117Ile) | |
11 | g.47332872C>G | CA380313325 | MYBPC3 | c.3432G>C (p.Met1144Ile) c.3414G>C (p.Met1138Ile) c.3351G>C (p.Met1117Ile) | |
11 | g.47332872C>T | CA380313328 | MYBPC3 | c.3432G>A (p.Met1144Ile) c.3414G>A (p.Met1138Ile) c.3351G>A (p.Met1117Ile) | |
11 | g.47332873A= | CA1969334658 | MYBPC3 | c.3431T= (p.Met1144=) c.3413T= (p.Met1138=) c.3350T= (p.Met1117=) | |
11 | g.47332873A>C | CA380313333 | MYBPC3 | c.3431T>G (p.Met1144Arg) c.3413T>G (p.Met1138Arg) c.3350T>G (p.Met1117Arg) | |
11 | g.47332873A>G | CA014156 | MYBPC3 | c.3431T>C (p.Met1144Thr) c.3413T>C (p.Met1138Thr) c.3350T>C (p.Met1117Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47332873A>T | CA380313338 | MYBPC3 | c.3431T>A (p.Met1144Lys) c.3413T>A (p.Met1138Lys) c.3350T>A (p.Met1117Lys) | |
11 | g.47332873_47332874insCTG | CA2554870595 | MYBPC3 | c.3430_3431insCAG (p.Met1144delinsThrVal) c.3412_3413insCAG (p.Met1138delinsThrVal) c.3349_3350insCAG (p.Met1117delinsThrVal) | |
11 | g.47332874T>A | CA380313343 | MYBPC3 | c.3430A>T (p.Met1144Leu) c.3412A>T (p.Met1138Leu) c.3349A>T (p.Met1117Leu) | |
11 | g.47332874T>C | CA380313347 | MYBPC3 | c.3430A>G (p.Met1144Val) c.3412A>G (p.Met1138Val) c.3349A>G (p.Met1117Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332874T>G | CA380313346 | MYBPC3 | c.3430A>C (p.Met1144Leu) c.3412A>C (p.Met1138Leu) c.3349A>C (p.Met1117Leu) | |
11 | g.47332874T= | CA1969334660 | MYBPC3 | c.3430A= (p.Met1144=) c.3412A= (p.Met1138=) c.3349A= (p.Met1117=) | |
11 | g.47332875A= | CA1969334663 | MYBPC3 | c.3429T= (p.Asn1143=) c.3411T= (p.Asn1137=) c.3348T= (p.Asn1116=) | |
11 | g.47332875A>C | CA380313348 | MYBPC3 | c.3429T>G (p.Asn1143Lys) c.3411T>G (p.Asn1137Lys) c.3348T>G (p.Asn1116Lys) | |
11 | g.47332875A>G | CA474429037 | MYBPC3 | c.3429T>C (p.Asn1143=) c.3411T>C (p.Asn1137=) c.3348T>C (p.Asn1116=) | dbSNP |
11 | g.47332875A>T | CA380313349 | MYBPC3 | c.3429T>A (p.Asn1143Lys) c.3411T>A (p.Asn1137Lys) c.3348T>A (p.Asn1116Lys) | |
11 | g.47332876T>A | CA380313351 | MYBPC3 | c.3428A>T (p.Asn1143Ile) c.3410A>T (p.Asn1137Ile) c.3347A>T (p.Asn1116Ile) | |
11 | g.47332876T>C | CA380313353 | MYBPC3 | c.3428A>G (p.Asn1143Ser) c.3410A>G (p.Asn1137Ser) c.3347A>G (p.Asn1116Ser) | |
11 | g.47332876T>G | CA380313355 | MYBPC3 | c.3428A>C (p.Asn1143Thr) c.3410A>C (p.Asn1137Thr) c.3347A>C (p.Asn1116Thr) | |
11 | g.47332877T>A | CA380313359 | MYBPC3 | c.3427A>T (p.Asn1143Tyr) c.3409A>T (p.Asn1137Tyr) c.3346A>T (p.Asn1116Tyr) | |
11 | g.47332877T>C | CA380313361 | MYBPC3 | c.3427A>G (p.Asn1143Asp) c.3409A>G (p.Asn1137Asp) c.3346A>G (p.Asn1116Asp) | |
11 | g.47332877T>G | CA380313365 | MYBPC3 | c.3427A>C (p.Asn1143His) c.3409A>C (p.Asn1137His) c.3346A>C (p.Asn1116His) | |
11 | g.47332878_47332879del | CA2580060421 | MYBPC3 | c.3426_3427del (p.Asn1143TyrfsTer5) c.3408_3409del (p.Asn1137TyrfsTer5) c.3345_3346del (p.Asn1116TyrfsTer5) | |
11 | g.47332878C>A | CA380313368 | MYBPC3 | c.3426G>T (p.Gln1142His) c.3408G>T (p.Gln1136His) c.3345G>T (p.Gln1115His) | dbSNP |
11 | g.47332878C= | CA1969334665 | MYBPC3 | c.3426G= (p.Gln1142=) c.3408G= (p.Gln1136=) c.3345G= (p.Gln1115=) | |
11 | g.47332878C>G | CA380313371 | MYBPC3 | c.3426G>C (p.Gln1142His) c.3408G>C (p.Gln1136His) c.3345G>C (p.Gln1115His) | |
11 | g.47332878C>T | CA079361 | MYBPC3 | c.3426G>A (p.Gln1142=) c.3408G>A (p.Gln1136=) c.3345G>A (p.Gln1115=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332879T>A | CA380313387 | MYBPC3 | c.3425A>T (p.Gln1142Leu) c.3407A>T (p.Gln1136Leu) c.3344A>T (p.Gln1115Leu) | |
11 | g.47332879T>C | CA380313382 | MYBPC3 | c.3425A>G (p.Gln1142Arg) c.3407A>G (p.Gln1136Arg) c.3344A>G (p.Gln1115Arg) | ClinVar dbSNP |
11 | g.47332879T>G | CA380313380 | MYBPC3 | c.3425A>C (p.Gln1142Pro) c.3407A>C (p.Gln1136Pro) c.3344A>C (p.Gln1115Pro) | ClinVar |
11 | g.47332879T= | CA1969334666 | MYBPC3 | c.3425A= (p.Gln1142=) c.3407A= (p.Gln1136=) c.3344A= (p.Gln1115=) | |
11 | g.47332880G>A | CA380313392 | MYBPC3 | c.3424C>T (p.Gln1142Ter) c.3406C>T (p.Gln1136Ter) c.3343C>T (p.Gln1115Ter) | ClinVar dbSNP |
11 | g.47332880G>C | CA380313395 | MYBPC3 | c.3424C>G (p.Gln1142Glu) c.3406C>G (p.Gln1136Glu) c.3343C>G (p.Gln1115Glu) | |
11 | g.47332880G>T | CA380313398 | MYBPC3 | c.3424C>A (p.Gln1142Lys) c.3406C>A (p.Gln1136Lys) c.3343C>A (p.Gln1115Lys) | |
11 | g.47332881G>A | CA474429038 | MYBPC3 | c.3423C>T (p.Ser1141=) c.3405C>T (p.Ser1135=) c.3342C>T (p.Ser1114=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332881G>C | CA380313401 | MYBPC3 | c.3423C>G (p.Ser1141Arg) c.3405C>G (p.Ser1135Arg) c.3342C>G (p.Ser1114Arg) | gnomAD v4 |
11 | g.47332881G= | CA1969334667 | MYBPC3 | c.3423C= (p.Ser1141=) c.3405C= (p.Ser1135=) c.3342C= (p.Ser1114=) | |
11 | g.47332881G>T | CA380313402 | MYBPC3 | c.3423C>A (p.Ser1141Arg) c.3405C>A (p.Ser1135Arg) c.3342C>A (p.Ser1114Arg) | |
11 | g.47332882C>A | CA380313407 | MYBPC3 | c.3422G>T (p.Ser1141Ile) c.3404G>T (p.Ser1135Ile) c.3341G>T (p.Ser1114Ile) | gnomAD v4 |
11 | g.47332882C>G | CA380313409 | MYBPC3 | c.3422G>C (p.Ser1141Thr) c.3404G>C (p.Ser1135Thr) c.3341G>C (p.Ser1114Thr) | |
11 | g.47332882C>T | CA380313412 | MYBPC3 | c.3422G>A (p.Ser1141Asn) c.3404G>A (p.Ser1135Asn) c.3341G>A (p.Ser1114Asn) | |
11 | g.47332883T>A | CA380313416 | MYBPC3 | c.3421A>T (p.Ser1141Cys) c.3403A>T (p.Ser1135Cys) c.3340A>T (p.Ser1114Cys) | |
11 | g.47332883T>C | CA380313418 | MYBPC3 | c.3421A>G (p.Ser1141Gly) c.3403A>G (p.Ser1135Gly) c.3340A>G (p.Ser1114Gly) | gnomAD v4 |
11 | g.47332883T>G | CA380313421 | MYBPC3 | c.3421A>C (p.Ser1141Arg) c.3403A>C (p.Ser1135Arg) c.3340A>C (p.Ser1114Arg) | |
11 | g.47332884G>A | CA474429039 | MYBPC3 | c.3420C>T (p.Phe1140=) c.3402C>T (p.Phe1134=) c.3339C>T (p.Phe1113=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332884G>C | CA380313425 | MYBPC3 | c.3420C>G (p.Phe1140Leu) c.3402C>G (p.Phe1134Leu) c.3339C>G (p.Phe1113Leu) | |
11 | g.47332884G= | CA1969334669 | MYBPC3 | c.3420C= (p.Phe1140=) c.3402C= (p.Phe1134=) c.3339C= (p.Phe1113=) | |
11 | g.47332884G>T | CA380313427 | MYBPC3 | c.3420C>A (p.Phe1140Leu) c.3402C>A (p.Phe1134Leu) c.3339C>A (p.Phe1113Leu) | |
11 | g.47332885A>C | CA380313433 | MYBPC3 | c.3419T>G (p.Phe1140Cys) c.3401T>G (p.Phe1134Cys) c.3338T>G (p.Phe1113Cys) | |
11 | g.47332885A>G | CA380313435 | MYBPC3 | c.3419T>C (p.Phe1140Ser) c.3401T>C (p.Phe1134Ser) c.3338T>C (p.Phe1113Ser) | gnomAD v4 |
11 | g.47332885A>T | CA380313430 | MYBPC3 | c.3419T>A (p.Phe1140Tyr) c.3401T>A (p.Phe1134Tyr) c.3338T>A (p.Phe1113Tyr) | |
11 | g.47332886A>C | CA380313442 | MYBPC3 | c.3418T>G (p.Phe1140Val) c.3400T>G (p.Phe1134Val) c.3337T>G (p.Phe1113Val) | ClinVar |
11 | g.47332886A>G | CA380313440 | MYBPC3 | c.3418T>C (p.Phe1140Leu) c.3400T>C (p.Phe1134Leu) c.3337T>C (p.Phe1113Leu) | |
11 | g.47332886A>T | CA380313444 | MYBPC3 | c.3418T>A (p.Phe1140Ile) c.3400T>A (p.Phe1134Ile) c.3337T>A (p.Phe1113Ile) | |
11 | g.47332887G>A | CA474429040 | MYBPC3 | c.3417C>T (p.Val1139=) c.3399C>T (p.Val1133=) c.3336C>T (p.Val1112=) | |
11 | g.47332887G>C | CA474429041 | MYBPC3 | c.3417C>G (p.Val1139=) c.3399C>G (p.Val1133=) c.3336C>G (p.Val1112=) | |
11 | g.47332887G= | CA1969334670 | MYBPC3 | c.3417C= (p.Val1139=) c.3399C= (p.Val1133=) c.3336C= (p.Val1112=) | |
11 | g.47332887G>T | CA474429042 | MYBPC3 | c.3417C>A (p.Val1139=) c.3399C>A (p.Val1133=) c.3336C>A (p.Val1112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332888A>C | CA380313449 | MYBPC3 | c.3416T>G (p.Val1139Gly) c.3398T>G (p.Val1133Gly) c.3335T>G (p.Val1112Gly) | |
11 | g.47332888A>G | CA380313452 | MYBPC3 | c.3416T>C (p.Val1139Ala) c.3398T>C (p.Val1133Ala) c.3335T>C (p.Val1112Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47332888A>T | CA380313454 | MYBPC3 | c.3416T>A (p.Val1139Asp) c.3398T>A (p.Val1133Asp) c.3335T>A (p.Val1112Asp) | |
11 | g.47332889C>A | CA380313457 | MYBPC3 | c.3415G>T (p.Val1139Phe) c.3397G>T (p.Val1133Phe) c.3334G>T (p.Val1112Phe) | ClinVar dbSNP |
11 | g.47332889C= | CA1969334672 | MYBPC3 | c.3415G= (p.Val1139=) c.3397G= (p.Val1133=) c.3334G= (p.Val1112=) | |
11 | g.47332889C>G | CA380313460 | MYBPC3 | c.3415G>C (p.Val1139Leu) c.3397G>C (p.Val1133Leu) c.3334G>C (p.Val1112Leu) | |
11 | g.47332889C>T | CA014146 | MYBPC3 | c.3415G>A (p.Val1139Ile) c.3397G>A (p.Val1133Ile) c.3334G>A (p.Val1112Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332890G>A | CA014139 | MYBPC3 | c.3414C>T (p.Arg1138=) c.3396C>T (p.Arg1132=) c.3333C>T (p.Arg1111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332890G>C | CA474429043 | MYBPC3 | c.3414C>G (p.Arg1138=) c.3396C>G (p.Arg1132=) c.3333C>G (p.Arg1111=) | dbSNP gnomAD v4 |
11 | g.47332890G= | CA1969334677 | MYBPC3 | c.3414C= (p.Arg1138=) c.3396C= (p.Arg1132=) c.3333C= (p.Arg1111=) | |
11 | g.47332890G>T | CA474429044 | MYBPC3 | c.3414C>A (p.Arg1138=) c.3396C>A (p.Arg1132=) c.3333C>A (p.Arg1111=) | |
11 | g.47332890dup | CA279290 | MYBPC3 | c.3414dup (p.Val1139ArgfsTer10) c.3396dup (p.Val1133ArgfsTer10) c.3333dup (p.Val1112ArgfsTer10) | ClinVar dbSNP |
11 | g.47332891C>A | CA380313472 | MYBPC3 | c.3413G>T (p.Arg1138Leu) c.3395G>T (p.Arg1132Leu) c.3332G>T (p.Arg1111Leu) | |
11 | g.47332891C= | CA1969334681 | MYBPC3 | c.3413G= (p.Arg1138=) c.3395G= (p.Arg1132=) c.3332G= (p.Arg1111=) | |
11 | g.47332891C>G | CA014130 | MYBPC3 | c.3413G>C (p.Arg1138Pro) c.3395G>C (p.Arg1132Pro) c.3332G>C (p.Arg1111Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.47332891C>T | CA014117 | MYBPC3 | c.3413G>A (p.Arg1138His) c.3395G>A (p.Arg1132His) c.3332G>A (p.Arg1111His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332891_47332892delinsCG | CA1969334683 | MYBPC3 | c.3412_3413delinsCG (p.Arg1138=) c.3394_3395delinsCG (p.Arg1132=) c.3331_3332delinsCG (p.Arg1111=) | |
11 | g.47332892G>A | CA014112 | MYBPC3 | c.3412C>T (p.Arg1138Cys) c.3394C>T (p.Arg1132Cys) c.3331C>T (p.Arg1111Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332892G>C | CA380313485 | MYBPC3 | c.3412C>G (p.Arg1138Gly) c.3394C>G (p.Arg1132Gly) c.3331C>G (p.Arg1111Gly) | gnomAD v4 |
11 | g.47332892G= | CA1969334686 | MYBPC3 | c.3412C= (p.Arg1138=) c.3394C= (p.Arg1132=) c.3331C= (p.Arg1111=) | |
11 | g.47332892G>T | CA380313488 | MYBPC3 | c.3412C>A (p.Arg1138Ser) c.3394C>A (p.Arg1132Ser) c.3331C>A (p.Arg1111Ser) | |
11 | g.47332893del | CA1139659387 | MYBPC3 | c.3412del (p.Arg1138AlafsTer?) c.3394del (p.Arg1132AlafsTer?) c.3331del (p.Arg1111AlafsTer?) | ClinVar dbSNP gnomAD v4 |
11 | g.47332893G>A | CA053857 | MYBPC3 | c.3411C>T (p.Phe1137=) c.3393C>T (p.Phe1131=) c.3330C>T (p.Phe1110=) | |
11 | g.47332893G>C | CA380313493 | MYBPC3 | c.3411C>G (p.Phe1137Leu) c.3393C>G (p.Phe1131Leu) c.3330C>G (p.Phe1110Leu) | |
11 | g.47332893G>T | CA380313490 | MYBPC3 | c.3411C>A (p.Phe1137Leu) c.3393C>A (p.Phe1131Leu) c.3330C>A (p.Phe1110Leu) | gnomAD v4 |
11 | g.47332894A>C | CA380313497 | MYBPC3 | c.3410T>G (p.Phe1137Cys) c.3392T>G (p.Phe1131Cys) c.3329T>G (p.Phe1110Cys) | |
11 | g.47332894A>G | CA380313500 | MYBPC3 | c.3410T>C (p.Phe1137Ser) c.3392T>C (p.Phe1131Ser) c.3329T>C (p.Phe1110Ser) | ClinVar |
11 | g.47332894A>T | CA380313503 | MYBPC3 | c.3410T>A (p.Phe1137Tyr) c.3392T>A (p.Phe1131Tyr) c.3329T>A (p.Phe1110Tyr) | |
11 | g.47332894_47332897delinsAAGT | CA1969334688 | MYBPC3 | c.3407_3410delinsACTT (p.Tyr1136=) c.3389_3392delinsACTT (p.Tyr1130=) c.3326_3329delinsACTT (p.Tyr1109=) | |
11 | g.47332895A>C | CA380313507 | MYBPC3 | c.3409T>G (p.Phe1137Val) c.3391T>G (p.Phe1131Val) c.3328T>G (p.Phe1110Val) | gnomAD v4 |
11 | g.47332895A>G | CA380313509 | MYBPC3 | c.3409T>C (p.Phe1137Leu) c.3391T>C (p.Phe1131Leu) c.3328T>C (p.Phe1110Leu) | |
11 | g.47332895A>T | CA380313511 | MYBPC3 | c.3409T>A (p.Phe1137Ile) c.3391T>A (p.Phe1131Ile) c.3328T>A (p.Phe1110Ile) | |
11 | g.47332900_47332902del | CA014090 | MYBPC3 | c.3407_3409del (p.Tyr1136del) c.3389_3391del (p.Tyr1130del) c.3326_3328del (p.Tyr1109del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332896G>A | CA079354 | MYBPC3 | c.3408C>T (p.Tyr1136=) c.3390C>T (p.Tyr1130=) c.3327C>T (p.Tyr1109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332896G>C | CA380313523 | MYBPC3 | c.3408C>G (p.Tyr1136Ter) c.3390C>G (p.Tyr1130Ter) c.3327C>G (p.Tyr1109Ter) | ClinVar dbSNP |
11 | g.47332896G= | CA1969334691 | MYBPC3 | c.3408C= (p.Tyr1136=) c.3390C= (p.Tyr1130=) c.3327C= (p.Tyr1109=) | |
11 | g.47332896G>T | CA014095 | MYBPC3 | c.3408C>A (p.Tyr1136Ter) c.3390C>A (p.Tyr1130Ter) c.3327C>A (p.Tyr1109Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332897T>A | CA380313529 | MYBPC3 | c.3407A>T (p.Tyr1136Phe) c.3389A>T (p.Tyr1130Phe) c.3326A>T (p.Tyr1109Phe) | |
11 | g.47332897T>C | CA380313532 | MYBPC3 | c.3407A>G (p.Tyr1136Cys) c.3389A>G (p.Tyr1130Cys) c.3326A>G (p.Tyr1109Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332897T>G | CA380313535 | MYBPC3 | c.3407A>C (p.Tyr1136Ser) c.3389A>C (p.Tyr1130Ser) c.3326A>C (p.Tyr1109Ser) | |
11 | g.47332897T= | CA1969334695 | MYBPC3 | c.3407A= (p.Tyr1136=) c.3389A= (p.Tyr1130=) c.3326A= (p.Tyr1109=) | |
11 | g.47332898A>C | CA380313539 | MYBPC3 | c.3406T>G (p.Tyr1136Asp) c.3388T>G (p.Tyr1130Asp) c.3325T>G (p.Tyr1109Asp) | |
11 | g.47332898A>G | CA380313544 | MYBPC3 | c.3406T>C (p.Tyr1136His) c.3388T>C (p.Tyr1130His) c.3325T>C (p.Tyr1109His) | gnomAD v4 |
11 | g.47332898A>T | CA380313541 | MYBPC3 | c.3406T>A (p.Tyr1136Asn) c.3388T>A (p.Tyr1130Asn) c.3325T>A (p.Tyr1109Asn) | |
11 | g.47332899G>A | CA053815 | MYBPC3 | c.3405C>T (p.Tyr1135=) c.3387C>T (p.Tyr1129=) c.3324C>T (p.Tyr1108=) | ClinVar gnomAD v4 |
11 | g.47332899G>C | CA380313547 | MYBPC3 | c.3405C>G (p.Tyr1135Ter) c.3387C>G (p.Tyr1129Ter) c.3324C>G (p.Tyr1108Ter) | |
11 | g.47332899G>T | CA380313549 | MYBPC3 | c.3405C>A (p.Tyr1135Ter) c.3387C>A (p.Tyr1129Ter) c.3324C>A (p.Tyr1108Ter) | gnomAD v4 |
11 | g.47332900T>A | CA380313554 | MYBPC3 | c.3404A>T (p.Tyr1135Phe) c.3386A>T (p.Tyr1129Phe) c.3323A>T (p.Tyr1108Phe) | |
11 | g.47332900T>C | CA380313557 | MYBPC3 | c.3404A>G (p.Tyr1135Cys) c.3386A>G (p.Tyr1129Cys) c.3323A>G (p.Tyr1108Cys) | |
11 | g.47332900T>G | CA380313559 | MYBPC3 | c.3404A>C (p.Tyr1135Ser) c.3386A>C (p.Tyr1129Ser) c.3323A>C (p.Tyr1108Ser) | |
11 | g.47332901A>C | CA380313564 | MYBPC3 | c.3403T>G (p.Tyr1135Asp) c.3385T>G (p.Tyr1129Asp) c.3322T>G (p.Tyr1108Asp) | |
11 | g.47332901A>G | CA380313567 | MYBPC3 | c.3403T>C (p.Tyr1135His) c.3385T>C (p.Tyr1129His) c.3322T>C (p.Tyr1108His) | |
11 | g.47332901A>T | CA380313569 | MYBPC3 | c.3403T>A (p.Tyr1135Asn) c.3385T>A (p.Tyr1129Asn) c.3322T>A (p.Tyr1108Asn) | |
11 | g.47332902del | CA2580084218 | MYBPC3 | c.3402del (p.Tyr1135ThrfsTer?) c.3384del (p.Tyr1129ThrfsTer?) c.3321del (p.Tyr1108ThrfsTer?) | ClinVar |
11 | g.47332902G>A | CA474429045 | MYBPC3 | c.3402C>T (p.Gly1134=) c.3384C>T (p.Gly1128=) c.3321C>T (p.Gly1107=) | |
11 | g.47332902G>C | CA474429046 | MYBPC3 | c.3402C>G (p.Gly1134=) c.3384C>G (p.Gly1128=) c.3321C>G (p.Gly1107=) | ClinVar dbSNP |
11 | g.47332902G= | CA1969334696 | MYBPC3 | c.3402C= (p.Gly1134=) c.3384C= (p.Gly1128=) c.3321C= (p.Gly1107=) | |
11 | g.47332902G>T | CA474429047 | MYBPC3 | c.3402C>A (p.Gly1134=) c.3384C>A (p.Gly1128=) c.3321C>A (p.Gly1107=) | gnomAD v4 |
11 | g.47332903C>A | CA380313571 | MYBPC3 | c.3401G>T (p.Gly1134Val) c.3383G>T (p.Gly1128Val) c.3320G>T (p.Gly1107Val) | |
11 | g.47332903C= | CA1969334698 | MYBPC3 | c.3401G= (p.Gly1134=) c.3383G= (p.Gly1128=) c.3320G= (p.Gly1107=) | |
11 | g.47332903C>G | CA380313575 | MYBPC3 | c.3401G>C (p.Gly1134Ala) c.3383G>C (p.Gly1128Ala) c.3320G>C (p.Gly1107Ala) | |
11 | g.47332903C>T | CA221682263 | MYBPC3 | c.3401G>A (p.Gly1134Asp) c.3383G>A (p.Gly1128Asp) c.3320G>A (p.Gly1107Asp) | dbSNP gnomAD v4 COSMIC |
11 | g.47332904C>A | CA380313586 | MYBPC3 | c.3400G>T (p.Gly1134Cys) c.3382G>T (p.Gly1128Cys) c.3319G>T (p.Gly1107Cys) | |
11 | g.47332904C>G | CA380313583 | MYBPC3 | c.3400G>C (p.Gly1134Arg) c.3382G>C (p.Gly1128Arg) c.3319G>C (p.Gly1107Arg) | |
11 | g.47332904C>T | CA380313580 | MYBPC3 | c.3400G>A (p.Gly1134Ser) c.3382G>A (p.Gly1128Ser) c.3319G>A (p.Gly1107Ser) | gnomAD v4 |