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 | |
11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | |
11 | g.47333277C>A | CA380314330 | MYBPC3 | c.3247G>T (p.Ala1083Ser) c.3229G>T (p.Ala1077Ser) c.3166G>T (p.Ala1056Ser) | gnomAD v4 |
11 | g.47333277C= | CA1969335334 | MYBPC3 | c.3247G= (p.Ala1083=) c.3229G= (p.Ala1077=) c.3166G= (p.Ala1056=) | |
11 | g.47333277C>G | CA380314332 | MYBPC3 | c.3247G>C (p.Ala1083Pro) c.3229G>C (p.Ala1077Pro) c.3166G>C (p.Ala1056Pro) | |
11 | g.47333277C>T | CA380314328 | MYBPC3 | c.3247G>A (p.Ala1083Thr) c.3229G>A (p.Ala1077Thr) c.3166G>A (p.Ala1056Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47333278dup | CA2838202718 | MYBPC3 | c.3247dup (p.Ala1083GlyfsTer?) c.3229dup (p.Ala1077GlyfsTer?) c.3166dup (p.Ala1056GlyfsTer?) | |
11 | g.47333278C>A | CA474212200 | MYBPC3 | c.3246G>T (p.Val1082=) c.3228G>T (p.Val1076=) c.3165G>T (p.Val1055=) | |
11 | g.47333278C>G | CA474212201 | MYBPC3 | c.3246G>C (p.Val1082=) c.3228G>C (p.Val1076=) c.3165G>C (p.Val1055=) | |
11 | g.47333278C>T | CA474212202 | MYBPC3 | c.3246G>A (p.Val1082=) c.3228G>A (p.Val1076=) c.3165G>A (p.Val1055=) | |
11 | g.47333279A>C | CA380314334 | MYBPC3 | c.3245T>G (p.Val1082Gly) c.3227T>G (p.Val1076Gly) c.3164T>G (p.Val1055Gly) | |
11 | g.47333279A>G | CA380314336 | MYBPC3 | c.3245T>C (p.Val1082Ala) c.3227T>C (p.Val1076Ala) c.3164T>C (p.Val1055Ala) | |
11 | g.47333279A>T | CA380314337 | MYBPC3 | c.3245T>A (p.Val1082Glu) c.3227T>A (p.Val1076Glu) c.3164T>A (p.Val1055Glu) | |
11 | g.47333280C>A | CA380314339 | MYBPC3 | c.3244G>T (p.Val1082Leu) c.3226G>T (p.Val1076Leu) c.3163G>T (p.Val1055Leu) | gnomAD v4 |
11 | g.47333280C= | CA1969335335 | MYBPC3 | c.3244G= (p.Val1082=) c.3226G= (p.Val1076=) c.3163G= (p.Val1055=) | |
11 | g.47333280C>G | CA380314341 | MYBPC3 | c.3244G>C (p.Val1082Leu) c.3226G>C (p.Val1076Leu) c.3163G>C (p.Val1055Leu) | |
11 | g.47333280C>T | CA221682524 | MYBPC3 | c.3244G>A (p.Val1082Met) c.3226G>A (p.Val1076Met) c.3163G>A (p.Val1055Met) | ClinVar dbSNP |
11 | g.47333281A= | CA1969335337 | MYBPC3 | c.3243T= (p.Asn1081=) c.3225T= (p.Asn1075=) c.3162T= (p.Asn1054=) | |
11 | g.47333281A>C | CA380314346 | MYBPC3 | c.3243T>G (p.Asn1081Lys) c.3225T>G (p.Asn1075Lys) c.3162T>G (p.Asn1054Lys) | |
11 | g.47333281A>G | CA474212203 | MYBPC3 | c.3243T>C (p.Asn1081=) c.3225T>C (p.Asn1075=) c.3162T>C (p.Asn1054=) | ClinVar dbSNP gnomAD v4 |
11 | g.47333281A>T | CA380314344 | MYBPC3 | c.3243T>A (p.Asn1081Lys) c.3225T>A (p.Asn1075Lys) c.3162T>A (p.Asn1054Lys) | dbSNP |
11 | g.47333282T>A | CA380314348 | MYBPC3 | c.3242A>T (p.Asn1081Ile) c.3224A>T (p.Asn1075Ile) c.3161A>T (p.Asn1054Ile) | gnomAD v4 |
11 | g.47333282T>C | CA380314350 | MYBPC3 | c.3242A>G (p.Asn1081Ser) c.3224A>G (p.Asn1075Ser) c.3161A>G (p.Asn1054Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333282T>G | CA079247 | MYBPC3 | c.3242A>C (p.Asn1081Thr) c.3224A>C (p.Asn1075Thr) c.3161A>C (p.Asn1054Thr) | dbSNP ExAC gnomAD v2 |
11 | g.47333282T= | CA1969335338 | MYBPC3 | c.3242A= (p.Asn1081=) c.3224A= (p.Asn1075=) c.3161A= (p.Asn1054=) | |
11 | g.47333283dup | CA2580084227 | MYBPC3 | c.3242dup (p.Asn1081LysfsTer?) c.3224dup (p.Asn1075LysfsTer?) c.3161dup (p.Asn1054LysfsTer?) | ClinVar |
11 | g.47333283T>A | CA380314352 | MYBPC3 | c.3241A>T (p.Asn1081Tyr) c.3223A>T (p.Asn1075Tyr) c.3160A>T (p.Asn1054Tyr) | |
11 | g.47333283T>C | CA380314354 | MYBPC3 | c.3241A>G (p.Asn1081Asp) c.3223A>G (p.Asn1075Asp) c.3160A>G (p.Asn1054Asp) | |
11 | g.47333283T>G | CA380314356 | MYBPC3 | c.3241A>C (p.Asn1081His) c.3223A>C (p.Asn1075His) c.3160A>C (p.Asn1054His) | ClinVar |
11 | g.47333284A= | CA1969335340 | MYBPC3 | c.3240T= (p.Leu1080=) c.3222T= (p.Leu1074=) c.3159T= (p.Leu1053=) | |
11 | g.47333284A>C | CA474212206 | MYBPC3 | c.3240T>G (p.Leu1080=) c.3222T>G (p.Leu1074=) c.3159T>G (p.Leu1053=) | |
11 | g.47333284A>G | CA474212205 | MYBPC3 | c.3240T>C (p.Leu1080=) c.3222T>C (p.Leu1074=) c.3159T>C (p.Leu1053=) | dbSNP gnomAD v4 |
11 | g.47333284A>T | CA474212204 | MYBPC3 | c.3240T>A (p.Leu1080=) c.3222T>A (p.Leu1074=) c.3159T>A (p.Leu1053=) | gnomAD v4 |
11 | g.47333285dup | CA2580084228 | MYBPC3 | c.3240dup (p.Asn1081Ter) c.3222dup (p.Asn1075Ter) c.3159dup (p.Asn1054Ter) | ClinVar |
11 | g.47333285A>C | CA380314358 | MYBPC3 | c.3239T>G (p.Leu1080Arg) c.3221T>G (p.Leu1074Arg) c.3158T>G (p.Leu1053Arg) | |
11 | g.47333285A>G | CA380314362 | MYBPC3 | c.3239T>C (p.Leu1080Pro) c.3221T>C (p.Leu1074Pro) c.3158T>C (p.Leu1053Pro) | |
11 | g.47333285A>T | CA380314360 | MYBPC3 | c.3239T>A (p.Leu1080His) c.3221T>A (p.Leu1074His) c.3158T>A (p.Leu1053His) | |
11 | g.47333286_47333287insTAG | CA1969335341 | MYBPC3 | c.3239_3240insACT (p.Leu1080_Asn1081insLeu) c.3221_3222insACT (p.Leu1074_Asn1075insLeu) c.3158_3159insACT (p.Leu1053_Asn1054insLeu) | dbSNP |
11 | g.47333286G>A | CA380314364 | MYBPC3 | c.3238C>T (p.Leu1080Phe) c.3220C>T (p.Leu1074Phe) c.3157C>T (p.Leu1053Phe) | |
11 | g.47333286G>C | CA380314366 | MYBPC3 | c.3238C>G (p.Leu1080Val) c.3220C>G (p.Leu1074Val) c.3157C>G (p.Leu1053Val) | |
11 | g.47333286G>T | CA380314368 | MYBPC3 | c.3238C>A (p.Leu1080Ile) c.3220C>A (p.Leu1074Ile) c.3157C>A (p.Leu1053Ile) | |
11 | g.47333287A>C | CA474212207 | MYBPC3 | c.3237T>G (p.Gly1079=) c.3219T>G (p.Gly1073=) c.3156T>G (p.Gly1052=) | |
11 | g.47333287A>G | CA474212208 | MYBPC3 | c.3237T>C (p.Gly1079=) c.3219T>C (p.Gly1073=) c.3156T>C (p.Gly1052=) | gnomAD v4 |
11 | g.47333287A>T | CA474212209 | MYBPC3 | c.3237T>A (p.Gly1079=) c.3219T>A (p.Gly1073=) c.3156T>A (p.Gly1052=) | |
11 | g.47333288C>A | CA380314374 | MYBPC3 | c.3236G>T (p.Gly1079Val) c.3218G>T (p.Gly1073Val) c.3155G>T (p.Gly1052Val) | |
11 | g.47333288C>G | CA380314376 | MYBPC3 | c.3236G>C (p.Gly1079Ala) c.3218G>C (p.Gly1073Ala) c.3155G>C (p.Gly1052Ala) | |
11 | g.47333288C>T | CA380314377 | MYBPC3 | c.3236G>A (p.Gly1079Asp) c.3218G>A (p.Gly1073Asp) c.3155G>A (p.Gly1052Asp) | ClinVar |
11 | g.47333291del | CA2695213931 | MYBPC3 | c.3236del (p.Gly1079ValfsTer?) c.3218del (p.Gly1073ValfsTer?) c.3155del (p.Gly1052ValfsTer?) | |
11 | g.47333289C>A | CA380314379 | MYBPC3 | c.3235G>T (p.Gly1079Cys) c.3217G>T (p.Gly1073Cys) c.3154G>T (p.Gly1052Cys) | gnomAD v4 |
11 | g.47333289C= | CA1969335342 | MYBPC3 | c.3235G= (p.Gly1079=) c.3217G= (p.Gly1073=) c.3154G= (p.Gly1052=) | |
11 | g.47333289C>G | CA380314380 | MYBPC3 | c.3235G>C (p.Gly1079Arg) c.3217G>C (p.Gly1073Arg) c.3154G>C (p.Gly1052Arg) | |
11 | g.47333289C>T | CA380314383 | MYBPC3 | c.3235G>A (p.Gly1079Ser) c.3217G>A (p.Gly1073Ser) c.3154G>A (p.Gly1052Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333290C>A | CA221682525 | MYBPC3 | c.3234G>T (p.Trp1078Cys) c.3216G>T (p.Trp1072Cys) c.3153G>T (p.Trp1051Cys) | dbSNP gnomAD v4 |
11 | g.47333290C= | CA1969335343 | MYBPC3 | c.3234G= (p.Trp1078=) c.3216G= (p.Trp1072=) c.3153G= (p.Trp1051=) | |
11 | g.47333290C>G | CA380314386 | MYBPC3 | c.3234G>C (p.Trp1078Cys) c.3216G>C (p.Trp1072Cys) c.3153G>C (p.Trp1051Cys) | |
11 | g.47333290C>T | CA380314388 | MYBPC3 | c.3234G>A (p.Trp1078Ter) c.3216G>A (p.Trp1072Ter) c.3153G>A (p.Trp1051Ter) | ClinVar dbSNP |
11 | g.47333291C>A | CA380314394 | MYBPC3 | c.3233G>T (p.Trp1078Leu) c.3215G>T (p.Trp1072Leu) c.3152G>T (p.Trp1051Leu) | gnomAD v4 |
11 | g.47333291C= | CA1969335345 | MYBPC3 | c.3233G= (p.Trp1078=) c.3215G= (p.Trp1072=) c.3152G= (p.Trp1051=) | |
11 | g.47333291C>G | CA380314392 | MYBPC3 | c.3233G>C (p.Trp1078Ser) c.3215G>C (p.Trp1072Ser) c.3152G>C (p.Trp1051Ser) | |
11 | g.47333291C>T | CA013715 | MYBPC3 | c.3233G>A (p.Trp1078Ter) c.3215G>A (p.Trp1072Ter) c.3152G>A (p.Trp1051Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333294_47333300del | CA2580084229 | MYBPC3 | c.3227_3233del (p.Asp1076GlyfsTer?) c.3209_3215del (p.Asp1070GlyfsTer?) c.3146_3152del (p.Asp1049GlyfsTer?) | ClinVar |
11 | g.47333292A= | CA1969335346 | MYBPC3 | c.3232T= (p.Trp1078=) c.3214T= (p.Trp1072=) c.3151T= (p.Trp1051=) | |
11 | g.47333292A>C | CA380314395 | MYBPC3 | c.3232T>G (p.Trp1078Gly) c.3214T>G (p.Trp1072Gly) c.3151T>G (p.Trp1051Gly) | |
11 | g.47333292A>G | CA079242 | MYBPC3 | c.3232T>C (p.Trp1078Arg) c.3214T>C (p.Trp1072Arg) c.3151T>C (p.Trp1051Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333292A>T | CA380314397 | MYBPC3 | c.3232T>A (p.Trp1078Arg) c.3214T>A (p.Trp1072Arg) c.3151T>A (p.Trp1051Arg) | gnomAD v4 |
11 | g.47333293G>A | CA474212210 | MYBPC3 | c.3231C>T (p.Ala1077=) c.3213C>T (p.Ala1071=) c.3150C>T (p.Ala1050=) | |
11 | g.47333293G>C | CA474212211 | MYBPC3 | c.3231C>G (p.Ala1077=) c.3213C>G (p.Ala1071=) c.3150C>G (p.Ala1050=) | ClinVar dbSNP gnomAD v4 |
11 | g.47333293G= | CA1969335348 | MYBPC3 | c.3231C= (p.Ala1077=) c.3213C= (p.Ala1071=) c.3150C= (p.Ala1050=) | |
11 | g.47333293G>T | CA474212212 | MYBPC3 | c.3231C>A (p.Ala1077=) c.3213C>A (p.Ala1071=) c.3150C>A (p.Ala1050=) | gnomAD v4 |
11 | g.47333294dup | CA2573146365 | MYBPC3 | c.3231dup (p.Trp1078LeufsTer4) c.3213dup (p.Trp1072LeufsTer4) c.3150dup (p.Trp1051LeufsTer4) | ClinVar dbSNP |
11 | g.47333294G>A | CA380314400 | MYBPC3 | c.3230C>T (p.Ala1077Val) c.3212C>T (p.Ala1071Val) c.3149C>T (p.Ala1050Val) | COSMIC COSMIC |
11 | g.47333294G>C | CA380314404 | MYBPC3 | c.3230C>G (p.Ala1077Gly) c.3212C>G (p.Ala1071Gly) c.3149C>G (p.Ala1050Gly) | |
11 | g.47333294G>T | CA380314402 | MYBPC3 | c.3230C>A (p.Ala1077Asp) c.3212C>A (p.Ala1071Asp) c.3149C>A (p.Ala1050Asp) | gnomAD v4 |
11 | g.47333295C>A | CA079238 | MYBPC3 | c.3229G>T (p.Ala1077Ser) c.3211G>T (p.Ala1071Ser) c.3148G>T (p.Ala1050Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333295C= | CA1969335351 | MYBPC3 | c.3229G= (p.Ala1077=) c.3211G= (p.Ala1071=) c.3148G= (p.Ala1050=) | |
11 | g.47333295C>G | CA380314408 | MYBPC3 | c.3229G>C (p.Ala1077Pro) c.3211G>C (p.Ala1071Pro) c.3148G>C (p.Ala1050Pro) | |
11 | g.47333295C>T | CA013706 | MYBPC3 | c.3229G>A (p.Ala1077Thr) c.3211G>A (p.Ala1071Thr) c.3148G>A (p.Ala1050Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47333295_47333296insA | CA658797620 | MYBPC3 | c.3228_3229insT (p.Ala1077CysfsTer5) c.3210_3211insT (p.Ala1071CysfsTer5) c.3147_3148insT (p.Ala1050CysfsTer5) | ClinVar dbSNP |
11 | g.47333296G>A | CA079235 | MYBPC3 | c.3228C>T (p.Asp1076=) c.3210C>T (p.Asp1070=) c.3147C>T (p.Asp1049=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333296G>C | CA380314411 | MYBPC3 | c.3228C>G (p.Asp1076Glu) c.3210C>G (p.Asp1070Glu) c.3147C>G (p.Asp1049Glu) | |
11 | g.47333296G= | CA1969335357 | MYBPC3 | c.3228C= (p.Asp1076=) c.3210C= (p.Asp1070=) c.3147C= (p.Asp1049=) | |
11 | g.47333296G>T | CA380314412 | MYBPC3 | c.3228C>A (p.Asp1076Glu) c.3210C>A (p.Asp1070Glu) c.3147C>A (p.Asp1049Glu) | dbSNP |
11 | g.47333296_47333297insA | CA2695213932 | MYBPC3 | c.3227_3228insT (p.Ala1077ArgfsTer5) c.3209_3210insT (p.Ala1071ArgfsTer5) c.3146_3147insT (p.Ala1050ArgfsTer5) | |
11 | g.47333297T>A | CA380314414 | MYBPC3 | c.3227A>T (p.Asp1076Val) c.3209A>T (p.Asp1070Val) c.3146A>T (p.Asp1049Val) | |
11 | g.47333297T>C | CA013694 | MYBPC3 | c.3227A>G (p.Asp1076Gly) c.3209A>G (p.Asp1070Gly) c.3146A>G (p.Asp1049Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333297T>G | CA380314417 | MYBPC3 | c.3227A>C (p.Asp1076Ala) c.3209A>C (p.Asp1070Ala) c.3146A>C (p.Asp1049Ala) | |
11 | g.47333297T= | CA1969335359 | MYBPC3 | c.3227A= (p.Asp1076=) c.3209A= (p.Asp1070=) c.3146A= (p.Asp1049=) | |
11 | g.47333297_47333298insA | CA013684 | MYBPC3 | c.3226_3227insT (p.Asp1076ValfsTer6) c.3208_3209insT (p.Asp1070ValfsTer6) c.3145_3146insT (p.Asp1049ValfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333298C>A | CA053133 | MYBPC3 | c.3226G>T (p.Asp1076Tyr) c.3208G>T (p.Asp1070Tyr) c.3145G>T (p.Asp1049Tyr) | gnomAD v4 |
11 | g.47333298C>G | CA380314421 | MYBPC3 | c.3226G>C (p.Asp1076His) c.3208G>C (p.Asp1070His) c.3145G>C (p.Asp1049His) | |
11 | g.47333298C>T | CA053126 | MYBPC3 | c.3226G>A (p.Asp1076Asn) c.3208G>A (p.Asp1070Asn) c.3145G>A (p.Asp1049Asn) | gnomAD v4 |
11 | g.47333299A= | CA1969335361 | MYBPC3 | c.3225T= (p.Thr1075=) c.3207T= (p.Thr1069=) c.3144T= (p.Thr1048=) | |
11 | g.47333299A>C | CA079233 | MYBPC3 | c.3225T>G (p.Thr1075=) c.3207T>G (p.Thr1069=) c.3144T>G (p.Thr1048=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333299A>G | CA474212213 | MYBPC3 | c.3225T>C (p.Thr1075=) c.3207T>C (p.Thr1069=) c.3144T>C (p.Thr1048=) | ClinVar dbSNP gnomAD v4 |
11 | g.47333299A>T | CA474212214 | MYBPC3 | c.3225T>A (p.Thr1075=) c.3207T>A (p.Thr1069=) c.3144T>A (p.Thr1048=) | |
11 | g.47333300G>A | CA380314424 | MYBPC3 | c.3224C>T (p.Thr1075Ile) c.3206C>T (p.Thr1069Ile) c.3143C>T (p.Thr1048Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333300G>C | CA221682555 | MYBPC3 | c.3224C>G (p.Thr1075Ser) c.3206C>G (p.Thr1069Ser) c.3143C>G (p.Thr1048Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333300G= | CA1969335363 | MYBPC3 | c.3224C= (p.Thr1075=) c.3206C= (p.Thr1069=) c.3143C= (p.Thr1048=) | |
11 | g.47333300G>T | CA380314426 | MYBPC3 | c.3224C>A (p.Thr1075Asn) c.3206C>A (p.Thr1069Asn) c.3143C>A (p.Thr1048Asn) | |
11 | g.47333301T>A | CA380314428 | MYBPC3 | c.3223A>T (p.Thr1075Ser) c.3205A>T (p.Thr1069Ser) c.3142A>T (p.Thr1048Ser) | |
11 | g.47333301T>C | CA079231 | MYBPC3 | c.3223A>G (p.Thr1075Ala) c.3205A>G (p.Thr1069Ala) c.3142A>G (p.Thr1048Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333301T>G | CA380314430 | MYBPC3 | c.3223A>C (p.Thr1075Pro) c.3205A>C (p.Thr1069Pro) c.3142A>C (p.Thr1048Pro) | |
11 | g.47333301T= | CA1969335366 | MYBPC3 | c.3223A= (p.Thr1075=) c.3205A= (p.Thr1069=) c.3142A= (p.Thr1048=) | |
11 | g.47333302C>A | CA474212215 | MYBPC3 | c.3222G>T (p.Val1074=) c.3204G>T (p.Val1068=) c.3141G>T (p.Val1047=) | gnomAD v4 |
11 | g.47333302C>G | CA474212216 | MYBPC3 | c.3222G>C (p.Val1074=) c.3204G>C (p.Val1068=) c.3141G>C (p.Val1047=) | |
11 | g.47333302C>T | CA474212217 | MYBPC3 | c.3222G>A (p.Val1074=) c.3204G>A (p.Val1068=) c.3141G>A (p.Val1047=) | |
11 | g.47333303A= | CA1969335369 | MYBPC3 | c.3221T= (p.Val1074=) c.3203T= (p.Val1068=) c.3140T= (p.Val1047=) | |
11 | g.47333303A>C | CA380314433 | MYBPC3 | c.3221T>G (p.Val1074Gly) c.3203T>G (p.Val1068Gly) c.3140T>G (p.Val1047Gly) | |
11 | g.47333303A>G | CA079228 | MYBPC3 | c.3221T>C (p.Val1074Ala) c.3203T>C (p.Val1068Ala) c.3140T>C (p.Val1047Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333303A>T | CA380314436 | MYBPC3 | c.3221T>A (p.Val1074Glu) c.3203T>A (p.Val1068Glu) c.3140T>A (p.Val1047Glu) | |
11 | g.47333304C>A | CA380314438 | MYBPC3 | c.3220G>T (p.Val1074Leu) c.3202G>T (p.Val1068Leu) c.3139G>T (p.Val1047Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333304C= | CA1969335370 | MYBPC3 | c.3220G= (p.Val1074=) c.3202G= (p.Val1068=) c.3139G= (p.Val1047=) | |
11 | g.47333304C>G | CA380314440 | MYBPC3 | c.3220G>C (p.Val1074Leu) c.3202G>C (p.Val1068Leu) c.3139G>C (p.Val1047Leu) | |
11 | g.47333304C>T | CA380314442 | MYBPC3 | c.3220G>A (p.Val1074Met) c.3202G>A (p.Val1068Met) c.3139G>A (p.Val1047Met) | gnomAD v4 |
11 | g.47333305C>A | CA474212220 | MYBPC3 | c.3219G>T (p.Arg1073=) c.3201G>T (p.Arg1067=) c.3138G>T (p.Arg1046=) | gnomAD v4 |
11 | g.47333305C= | CA1969335371 | MYBPC3 | c.3219G= (p.Arg1073=) c.3201G= (p.Arg1067=) c.3138G= (p.Arg1046=) | |
11 | g.47333305C>G | CA474212218 | MYBPC3 | c.3219G>C (p.Arg1073=) c.3201G>C (p.Arg1067=) c.3138G>C (p.Arg1046=) | gnomAD v4 |
11 | g.47333305C>T | CA474212219 | MYBPC3 | c.3219G>A (p.Arg1073=) c.3201G>A (p.Arg1067=) c.3138G>A (p.Arg1046=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333306C>A | CA380314445 | MYBPC3 | c.3218G>T (p.Arg1073Leu) c.3200G>T (p.Arg1067Leu) c.3137G>T (p.Arg1046Leu) | gnomAD v4 |
11 | g.47333306C= | CA1969335373 | MYBPC3 | c.3218G= (p.Arg1073=) c.3200G= (p.Arg1067=) c.3137G= (p.Arg1046=) | |
11 | g.47333306C>G | CA380314446 | MYBPC3 | c.3218G>C (p.Arg1073Pro) c.3200G>C (p.Arg1067Pro) c.3137G>C (p.Arg1046Pro) | gnomAD v4 |
11 | g.47333306C>T | CA079227 | MYBPC3 | c.3218G>A (p.Arg1073Gln) c.3200G>A (p.Arg1067Gln) c.3137G>A (p.Arg1046Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333306_47333307delinsCG | CA1969335374 | MYBPC3 | c.3217_3218delinsCG (p.Arg1073=) c.3199_3200delinsCG (p.Arg1067=) c.3136_3137delinsCG (p.Arg1046=) | |
11 | g.47333307G>A | CA079225 | MYBPC3 | c.3217C>T (p.Arg1073Trp) c.3199C>T (p.Arg1067Trp) c.3136C>T (p.Arg1046Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333307G>C | CA380314451 | MYBPC3 | c.3217C>G (p.Arg1073Gly) c.3199C>G (p.Arg1067Gly) c.3136C>G (p.Arg1046Gly) | |
11 | g.47333307G= | CA1969335377 | MYBPC3 | c.3217C= (p.Arg1073=) c.3199C= (p.Arg1067=) c.3136C= (p.Arg1046=) | |
11 | g.47333307G>T | CA474212221 | MYBPC3 | c.3217C>A (p.Arg1073=) c.3199C>A (p.Arg1067=) c.3136C>A (p.Arg1046=) | gnomAD v4 |
11 | g.47333308dup | CA296433 | MYBPC3 | c.3217dup (p.Arg1073ProfsTer4) c.3199dup (p.Arg1067ProfsTer4) c.3136dup (p.Arg1046ProfsTer4) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333308del | CA013676 | MYBPC3 | c.3217del (p.Arg1073GlyfsTer2) c.3199del (p.Arg1067GlyfsTer2) c.3136del (p.Arg1046GlyfsTer2) | ClinVar dbSNP gnomAD v4 |
11 | g.47333308G>A | CA474212222 | MYBPC3 | c.3216C>T (p.Leu1072=) c.3198C>T (p.Leu1066=) c.3135C>T (p.Leu1045=) | |
11 | g.47333308G>C | CA474212223 | MYBPC3 | c.3216C>G (p.Leu1072=) c.3198C>G (p.Leu1066=) c.3135C>G (p.Leu1045=) | |
11 | g.47333308G= | CA1969335379 | MYBPC3 | c.3216C= (p.Leu1072=) c.3198C= (p.Leu1066=) c.3135C= (p.Leu1045=) | |
11 | g.47333308G>T | CA079223 | MYBPC3 | c.3216C>A (p.Leu1072=) c.3198C>A (p.Leu1066=) c.3135C>A (p.Leu1045=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333308_47333309insC | CA2573146366 | MYBPC3 | c.3215_3216insG (p.Arg1073ProfsTer4) c.3197_3198insG (p.Arg1067ProfsTer4) c.3134_3135insG (p.Arg1046ProfsTer4) | ClinVar dbSNP |
11 | g.47333309A>C | CA380314459 | MYBPC3 | c.3215T>G (p.Leu1072Arg) c.3197T>G (p.Leu1066Arg) c.3134T>G (p.Leu1045Arg) | ClinVar |
11 | g.47333309A>G | CA380314455 | MYBPC3 | c.3215T>C (p.Leu1072Pro) c.3197T>C (p.Leu1066Pro) c.3134T>C (p.Leu1045Pro) | COSMIC COSMIC |
11 | g.47333309A>T | CA380314457 | MYBPC3 | c.3215T>A (p.Leu1072His) c.3197T>A (p.Leu1066His) c.3134T>A (p.Leu1045His) | gnomAD v4 |
11 | g.47333310G>A | CA053055 | MYBPC3 | c.3214C>T (p.Leu1072Phe) c.3196C>T (p.Leu1066Phe) c.3133C>T (p.Leu1045Phe) | |
11 | g.47333310G>C | CA380314462 | MYBPC3 | c.3214C>G (p.Leu1072Val) c.3196C>G (p.Leu1066Val) c.3133C>G (p.Leu1045Val) | |
11 | g.47333310G= | CA1969335381 | MYBPC3 | c.3214C= (p.Leu1072=) c.3196C= (p.Leu1066=) c.3133C= (p.Leu1045=) | |
11 | g.47333310G>T | CA380314464 | MYBPC3 | c.3214C>A (p.Leu1072Ile) c.3196C>A (p.Leu1066Ile) c.3133C>A (p.Leu1045Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333311A>C | CA380314466 | MYBPC3 | c.3213T>G (p.Asp1071Glu) c.3195T>G (p.Asp1065Glu) c.3132T>G (p.Asp1044Glu) | |
11 | g.47333311A>G | CA474212224 | MYBPC3 | c.3213T>C (p.Asp1071=) c.3195T>C (p.Asp1065=) c.3132T>C (p.Asp1044=) | |
11 | g.47333311A>T | CA380314471 | MYBPC3 | c.3213T>A (p.Asp1071Glu) c.3195T>A (p.Asp1065Glu) c.3132T>A (p.Asp1044Glu) | gnomAD v4 |
11 | g.47333312T>A | CA380314473 | MYBPC3 | c.3212A>T (p.Asp1071Val) c.3194A>T (p.Asp1065Val) c.3131A>T (p.Asp1044Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333312T>C | CA380314477 | MYBPC3 | c.3212A>G (p.Asp1071Gly) c.3194A>G (p.Asp1065Gly) c.3131A>G (p.Asp1044Gly) | |
11 | g.47333312T>G | CA380314475 | MYBPC3 | c.3212A>C (p.Asp1071Ala) c.3194A>C (p.Asp1065Ala) c.3131A>C (p.Asp1044Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47333312T= | CA1969335383 | MYBPC3 | c.3212A= (p.Asp1071=) c.3194A= (p.Asp1065=) c.3131A= (p.Asp1044=) | |
11 | g.47333313C>A | CA380314478 | MYBPC3 | c.3211G>T (p.Asp1071Tyr) c.3193G>T (p.Asp1065Tyr) c.3130G>T (p.Asp1044Tyr) | gnomAD v4 |
11 | g.47333313C>G | CA380314480 | MYBPC3 | c.3211G>C (p.Asp1071His) c.3193G>C (p.Asp1065His) c.3130G>C (p.Asp1044His) | |
11 | g.47333313C>T | CA380314483 | MYBPC3 | c.3211G>A (p.Asp1071Asn) c.3193G>A (p.Asp1065Asn) c.3130G>A (p.Asp1044Asn) | |
11 | g.47333314del | CA2580084230 | MYBPC3 | c.3211del (p.Asp1071IlefsTer4) c.3193del (p.Asp1065IlefsTer4) c.3130del (p.Asp1044IlefsTer4) | ClinVar |
11 | g.47333314C>A | CA380314484 | MYBPC3 | c.3210G>T (p.Gln1070His) c.3192G>T (p.Gln1064His) c.3129G>T (p.Gln1043His) | gnomAD v4 |
11 | g.47333314C= | CA1969335385 | MYBPC3 | c.3210G= (p.Gln1070=) c.3192G= (p.Gln1064=) c.3129G= (p.Gln1043=) | |
11 | g.47333314C>G | CA380314486 | MYBPC3 | c.3210G>C (p.Gln1070His) c.3192G>C (p.Gln1064His) c.3129G>C (p.Gln1043His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333314C>T | CA474212225 | MYBPC3 | c.3210G>A (p.Gln1070=) c.3192G>A (p.Gln1064=) c.3129G>A (p.Gln1043=) | gnomAD v4 |
11 | g.47333315T>A | CA380314488 | MYBPC3 | c.3209A>T (p.Gln1070Leu) c.3191A>T (p.Gln1064Leu) c.3128A>T (p.Gln1043Leu) | |
11 | g.47333315T>C | CA380314489 | MYBPC3 | c.3209A>G (p.Gln1070Arg) c.3191A>G (p.Gln1064Arg) c.3128A>G (p.Gln1043Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47333315T>G | CA380314491 | MYBPC3 | c.3209A>C (p.Gln1070Pro) c.3191A>C (p.Gln1064Pro) c.3128A>C (p.Gln1043Pro) | gnomAD v4 |
11 | g.47333315T= | CA1969335387 | MYBPC3 | c.3209A= (p.Gln1070=) c.3191A= (p.Gln1064=) c.3128A= (p.Gln1043=) | |
11 | g.47333316G>A | CA380314493 | MYBPC3 | c.3208C>T (p.Gln1070Ter) c.3190C>T (p.Gln1064Ter) c.3127C>T (p.Gln1043Ter) | ClinVar gnomAD v4 |
11 | g.47333316G>C | CA380314495 | MYBPC3 | c.3208C>G (p.Gln1070Glu) c.3190C>G (p.Gln1064Glu) c.3127C>G (p.Gln1043Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333316G= | CA1969335388 | MYBPC3 | c.3208C= (p.Gln1070=) c.3190C= (p.Gln1064=) c.3127C= (p.Gln1043=) | |
11 | g.47333316G>T | CA380314497 | MYBPC3 | c.3208C>A (p.Gln1070Lys) c.3190C>A (p.Gln1064Lys) c.3127C>A (p.Gln1043Lys) | gnomAD v4 |
11 | g.47333319dup | CA2613393528 | MYBPC3 | c.3208dup (p.Gln1070ProfsTer7) c.3190dup (p.Gln1064ProfsTer7) c.3127dup (p.Gln1043ProfsTer7) | gnomAD v4 |
11 | g.47333319del | CA2613393530 | MYBPC3 | c.3208del (p.Gln1070ArgfsTer5) c.3190del (p.Gln1064ArgfsTer5) c.3127del (p.Gln1043ArgfsTer5) | gnomAD v4 |
11 | g.47333317G>A | CA474212226 | MYBPC3 | c.3207C>T (p.Pro1069=) c.3189C>T (p.Pro1063=) c.3126C>T (p.Pro1042=) | ClinVar gnomAD v4 |
11 | g.47333317G>C | CA474212227 | MYBPC3 | c.3207C>G (p.Pro1069=) c.3189C>G (p.Pro1063=) c.3126C>G (p.Pro1042=) | |
11 | g.47333317G>T | CA474212228 | MYBPC3 | c.3207C>A (p.Pro1069=) c.3189C>A (p.Pro1063=) c.3126C>A (p.Pro1042=) | gnomAD v4 |
11 | g.47333318G>A | CA380314500 | MYBPC3 | c.3206C>T (p.Pro1069Leu) c.3188C>T (p.Pro1063Leu) c.3125C>T (p.Pro1042Leu) | dbSNP gnomAD v4 |
11 | g.47333318G>C | CA380314502 | MYBPC3 | c.3206C>G (p.Pro1069Arg) c.3188C>G (p.Pro1063Arg) c.3125C>G (p.Pro1042Arg) | gnomAD v4 |
11 | g.47333318G= | CA1969335390 | MYBPC3 | c.3206C= (p.Pro1069=) c.3188C= (p.Pro1063=) c.3125C= (p.Pro1042=) | |
11 | g.47333318G>T | CA380314499 | MYBPC3 | c.3206C>A (p.Pro1069His) c.3188C>A (p.Pro1063His) c.3125C>A (p.Pro1042His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333321_47333323del | CA2573332624 | MYBPC3 | c.3204_3206del (p.Pro1069del) c.3186_3188del (p.Pro1063del) c.3123_3125del (p.Pro1042del) | |
11 | g.47333319G>A | CA221682579 | MYBPC3 | c.3205C>T (p.Pro1069Ser) c.3187C>T (p.Pro1063Ser) c.3124C>T (p.Pro1042Ser) | ClinVar dbSNP COSMIC |
11 | g.47333319G>C | CA380314505 | MYBPC3 | c.3205C>G (p.Pro1069Ala) c.3187C>G (p.Pro1063Ala) c.3124C>G (p.Pro1042Ala) | dbSNP gnomAD v2 |
11 | g.47333319G= | CA1969335391 | MYBPC3 | c.3205C= (p.Pro1069=) c.3187C= (p.Pro1063=) c.3124C= (p.Pro1042=) | |
11 | g.47333319G>T | CA380314508 | MYBPC3 | c.3205C>A (p.Pro1069Thr) c.3187C>A (p.Pro1063Thr) c.3124C>A (p.Pro1042Thr) | gnomAD v4 |
11 | g.47333320A= | CA1969335393 | MYBPC3 | c.3204T= (p.Pro1068=) c.3186T= (p.Pro1062=) c.3123T= (p.Pro1041=) | |
11 | g.47333320A>C | CA474212229 | MYBPC3 | c.3204T>G (p.Pro1068=) c.3186T>G (p.Pro1062=) c.3123T>G (p.Pro1041=) | |
11 | g.47333320A>G | CA474212231 | MYBPC3 | c.3204T>C (p.Pro1068=) c.3186T>C (p.Pro1062=) c.3123T>C (p.Pro1041=) | dbSNP gnomAD v4 |
11 | g.47333320A>T | CA474212230 | MYBPC3 | c.3204T>A (p.Pro1068=) c.3186T>A (p.Pro1062=) c.3123T>A (p.Pro1041=) | |
11 | g.47333321G>A | CA380314512 | MYBPC3 | c.3203C>T (p.Pro1068Leu) c.3185C>T (p.Pro1062Leu) c.3122C>T (p.Pro1041Leu) | ClinVar gnomAD v4 |
11 | g.47333321G>C | CA380314513 | MYBPC3 | c.3203C>G (p.Pro1068Arg) c.3185C>G (p.Pro1062Arg) c.3122C>G (p.Pro1041Arg) | |
11 | g.47333321G>T | CA380314517 | MYBPC3 | c.3203C>A (p.Pro1068His) c.3185C>A (p.Pro1062His) c.3122C>A (p.Pro1041His) | gnomAD v4 |
11 | g.47333322G>A | CA380314520 | MYBPC3 | c.3202C>T (p.Pro1068Ser) c.3184C>T (p.Pro1062Ser) c.3121C>T (p.Pro1041Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47333322G>C | CA380314522 | MYBPC3 | c.3202C>G (p.Pro1068Ala) c.3184C>G (p.Pro1062Ala) c.3121C>G (p.Pro1041Ala) | |
11 | g.47333322G= | CA1969335394 | MYBPC3 | c.3202C= (p.Pro1068=) c.3184C= (p.Pro1062=) c.3121C= (p.Pro1041=) | |
11 | g.47333322G>T | CA380314524 | MYBPC3 | c.3202C>A (p.Pro1068Thr) c.3184C>A (p.Pro1062Thr) c.3121C>A (p.Pro1041Thr) | gnomAD v4 |
11 | g.47333323A>C | CA380314526 | MYBPC3 | c.3201T>G (p.Ser1067Arg) c.3183T>G (p.Ser1061Arg) c.3120T>G (p.Ser1040Arg) | |
11 | g.47333323A>G | CA474212232 | MYBPC3 | c.3201T>C (p.Ser1067=) c.3183T>C (p.Ser1061=) c.3120T>C (p.Ser1040=) | |
11 | g.47333323A>T | CA380314528 | MYBPC3 | c.3201T>A (p.Ser1067Arg) c.3183T>A (p.Ser1061Arg) c.3120T>A (p.Ser1040Arg) | |
11 | g.47333324C>A | CA380314530 | MYBPC3 | c.3200G>T (p.Ser1067Ile) c.3182G>T (p.Ser1061Ile) c.3119G>T (p.Ser1040Ile) | gnomAD v4 |
11 | g.47333324C= | CA1969335396 | MYBPC3 | c.3200G= (p.Ser1067=) c.3182G= (p.Ser1061=) c.3119G= (p.Ser1040=) | |
11 | g.47333324C>G | CA380314531 | MYBPC3 | c.3200G>C (p.Ser1067Thr) c.3182G>C (p.Ser1061Thr) c.3119G>C (p.Ser1040Thr) | gnomAD v4 |
11 | g.47333324C>T | CA380314533 | MYBPC3 | c.3200G>A (p.Ser1067Asn) c.3182G>A (p.Ser1061Asn) c.3119G>A (p.Ser1040Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333325T>A | CA380314538 | MYBPC3 | c.3199A>T (p.Ser1067Cys) c.3181A>T (p.Ser1061Cys) c.3118A>T (p.Ser1040Cys) | gnomAD v4 |
11 | g.47333325T>C | CA380314535 | MYBPC3 | c.3199A>G (p.Ser1067Gly) c.3181A>G (p.Ser1061Gly) c.3118A>G (p.Ser1040Gly) | gnomAD v4 |
11 | g.47333325T>G | CA380314536 | MYBPC3 | c.3199A>C (p.Ser1067Arg) c.3181A>C (p.Ser1061Arg) c.3118A>C (p.Ser1040Arg) | |
11 | g.47333326T>A | CA474212234 | MYBPC3 | c.3198A>T (p.Pro1066=) c.3180A>T (p.Pro1060=) c.3117A>T (p.Pro1039=) | gnomAD v4 |
11 | g.47333326T>C | CA079221 | MYBPC3 | c.3198A>G (p.Pro1066=) c.3180A>G (p.Pro1060=) c.3117A>G (p.Pro1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333326T>G | CA474212235 | MYBPC3 | c.3198A>C (p.Pro1066=) c.3180A>C (p.Pro1060=) c.3117A>C (p.Pro1039=) | |
11 | g.47333326T= | CA1969335397 | MYBPC3 | c.3198A= (p.Pro1066=) c.3180A= (p.Pro1060=) c.3117A= (p.Pro1039=) | |
11 | g.47333327G>A | CA380314540 | MYBPC3 | c.3197C>T (p.Pro1066Leu) c.3179C>T (p.Pro1060Leu) c.3116C>T (p.Pro1039Leu) | gnomAD v4 |
11 | g.47333327G>C | CA380314541 | MYBPC3 | c.3197C>G (p.Pro1066Arg) c.3179C>G (p.Pro1060Arg) c.3116C>G (p.Pro1039Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333327G= | CA1969335399 | MYBPC3 | c.3197C= (p.Pro1066=) c.3179C= (p.Pro1060=) c.3116C= (p.Pro1039=) | |
11 | g.47333327G>T | CA380314543 | MYBPC3 | c.3197C>A (p.Pro1066Gln) c.3179C>A (p.Pro1060Gln) c.3116C>A (p.Pro1039Gln) | gnomAD v4 |
11 | g.47333328G>A | CA380314546 | MYBPC3 | c.3196C>T (p.Pro1066Ser) c.3178C>T (p.Pro1060Ser) c.3115C>T (p.Pro1039Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47333328G>C | CA380314548 | MYBPC3 | c.3196C>G (p.Pro1066Ala) c.3178C>G (p.Pro1060Ala) c.3115C>G (p.Pro1039Ala) | |
11 | g.47333328G= | CA1969335401 | MYBPC3 | c.3196C= (p.Pro1066=) c.3178C= (p.Pro1060=) c.3115C= (p.Pro1039=) | |
11 | g.47333328G>T | CA380314549 | MYBPC3 | c.3196C>A (p.Pro1066Thr) c.3178C>A (p.Pro1060Thr) c.3115C>A (p.Pro1039Thr) | gnomAD v4 |
11 | g.47333329C>A | CA221682587 | MYBPC3 | c.3195G>T (p.Lys1065Asn) c.3177G>T (p.Lys1059Asn) c.3114G>T (p.Lys1038Asn) | dbSNP gnomAD v4 |
11 | g.47333329C= | CA1969335403 | MYBPC3 | c.3195G= (p.Lys1065=) c.3177G= (p.Lys1059=) c.3114G= (p.Lys1038=) | |
11 | g.47333329C>G | CA380314552 | MYBPC3 | c.3195G>C (p.Lys1065Asn) c.3177G>C (p.Lys1059Asn) c.3114G>C (p.Lys1038Asn) | gnomAD v4 |
11 | g.47333329C>T | CA474212236 | MYBPC3 | c.3195G>A (p.Lys1065=) c.3177G>A (p.Lys1059=) c.3114G>A (p.Lys1038=) | ClinVar dbSNP gnomAD v4 |
11 | g.47333330T>A | CA380314554 | MYBPC3 | c.3194A>T (p.Lys1065Met) c.3176A>T (p.Lys1059Met) c.3113A>T (p.Lys1038Met) | |
11 | g.47333330T>C | CA380314555 | MYBPC3 | c.3194A>G (p.Lys1065Arg) c.3176A>G (p.Lys1059Arg) c.3113A>G (p.Lys1038Arg) | |
11 | g.47333330T>G | CA380314556 | MYBPC3 | c.3194A>C (p.Lys1065Thr) c.3176A>C (p.Lys1059Thr) c.3113A>C (p.Lys1038Thr) | |
11 | g.47333330_47333344delinsTTGTCTGCGGGAGAC | CA1969335405 | MYBPC3 | c.3191-11_3194delinsGTCTCCCGCAGACAA c.3173-11_3176delinsGTCTCCCGCAGACAA c.3110-11_3113delinsGTCTCCCGCAGACAA | |
11 | g.47333331T>A | CA380314559 | MYBPC3 | c.3193A>T (p.Lys1065Ter) c.3175A>T (p.Lys1059Ter) c.3112A>T (p.Lys1038Ter) | dbSNP gnomAD v4 |
11 | g.47333331T>C | CA380314558 | MYBPC3 | c.3193A>G (p.Lys1065Glu) c.3175A>G (p.Lys1059Glu) c.3112A>G (p.Lys1038Glu) | ClinVar gnomAD v4 |
11 | g.47333331T>G | CA380314557 | MYBPC3 | c.3193A>C (p.Lys1065Gln) c.3175A>C (p.Lys1059Gln) c.3112A>C (p.Lys1038Gln) | |
11 | g.47333331T= | CA1969335408 | MYBPC3 | c.3193A= (p.Lys1065=) c.3175A= (p.Lys1059=) c.3112A= (p.Lys1038=) | |
11 | g.47333331_47333344del | CA913190259 | MYBPC3 | c.3191-11_3193del c.3173-11_3175del c.3110-11_3112del | ClinVar dbSNP |
11 | g.47333332del | CA2839063023 | MYBPC3 | c.3192del (p.Asp1064GlufsTer11) c.3174del (p.Asp1058GlufsTer11) c.3111del (p.Asp1037GlufsTer11) | |
11 | g.47333332G>A | CA474212238 | MYBPC3 | c.3192C>T (p.Asp1064=) c.3174C>T (p.Asp1058=) c.3111C>T (p.Asp1037=) | gnomAD v4 |
11 | g.47333332G>C | CA380314560 | MYBPC3 | c.3192C>G (p.Asp1064Glu) c.3174C>G (p.Asp1058Glu) c.3111C>G (p.Asp1037Glu) | ClinVar dbSNP |
11 | g.47333332G= | CA1969335411 | MYBPC3 | c.3192C= (p.Asp1064=) c.3174C= (p.Asp1058=) c.3111C= (p.Asp1037=) | |
11 | g.47333332G>T | CA380314561 | MYBPC3 | c.3192C>A (p.Asp1064Glu) c.3174C>A (p.Asp1058Glu) c.3111C>A (p.Asp1037Glu) | gnomAD v4 |
11 | g.47333332dup | CA013666 | MYBPC3 | c.3192dup (p.Lys1065GlnfsTer12) c.3174dup (p.Lys1059GlnfsTer12) c.3111dup (p.Lys1038GlnfsTer12) | ClinVar dbSNP gnomAD v4 |
11 | g.47333333T>A | CA380314562 | MYBPC3 | c.3191A>T (p.Asp1064Val) c.3173A>T (p.Asp1058Val) c.3110A>T (p.Asp1037Val) | gnomAD v4 |
11 | g.47333333T>C | CA380314563 | MYBPC3 | c.3191A>G (p.Asp1064Gly) c.3173A>G (p.Asp1058Gly) c.3110A>G (p.Asp1037Gly) | |
11 | g.47333333T>G | CA380314564 | MYBPC3 | c.3191A>C (p.Asp1064Ala) c.3173A>C (p.Asp1058Ala) c.3110A>C (p.Asp1037Ala) | |
11 | g.47333333T= | CA1969335413 | MYBPC3 | c.3191A= (p.Asp1064=) c.3173A= (p.Asp1058=) c.3110A= (p.Asp1037=) | |
11 | g.47333334C>A | CA380314565 | MYBPC3 | c.3191-1G>T (n.3191-1G>T) c.3173-1G>T (n.3173-1G>T) c.3110-1G>T (n.3110-1G>T) | gnomAD v4 |
11 | g.47333334C= | CA1969335415 | MYBPC3 | c.3191-1G= (n.3191-1G=) c.3173-1G= (n.3173-1G=) c.3110-1G= (n.3110-1G=) | |
11 | g.47333334C>G | CA380314566 | MYBPC3 | c.3191-1G>C (n.3191-1G>C) c.3173-1G>C (n.3173-1G>C) c.3110-1G>C (n.3110-1G>C) | ClinVar dbSNP |
11 | g.47333334C>T | CA380314567 | MYBPC3 | c.3191-1G>A (n.3191-1G>A) c.3173-1G>A (n.3173-1G>A) c.3110-1G>A (n.3110-1G>A) | ClinVar dbSNP |
11 | g.47333334_47333335insAACAACC | CA599374338 | MYBPC3 | c.3191-1_3191insGTTGTTG (n.3191-1_3191insGTTGTTG) c.3173-1_3173insGTTGTTG (n.3173-1_3173insGTTGTTG) c.3110-1_3110insGTTGTTG (n.3110-1_3110insGTTGTTG) | dbSNP gnomAD v2 |
11 | g.47333334_47333335insAACAACCTGCAGCACCAGCGTGGCCT | CA2791331000 | MYBPC3 | c.3191-2_3191-1insAGGCCACGCTGGTGCTGCAGGTTGTT (n.3191-2_3191-1insAGGCCACGCTGGTGCTGCAGGTTGTT) c.3173-2_3173-1insAGGCCACGCTGGTGCTGCAGGTTGTT (n.3173-2_3173-1insAGGCCACGCTGGTGCTGCAGGTTGTT) c.3110-2_3110-1insAGGCCACGCTGGTGCTGCAGGTTGTT (n.3110-2_3110-1insAGGCCACGCTGGTGCTGCAGGTTGTT) | |
11 | g.47333335T>A | CA221682593 | MYBPC3 | c.3191-2A>T (n.3191-2A>T) c.3173-2A>T (n.3173-2A>T) c.3110-2A>T (n.3110-2A>T) | dbSNP |
11 | g.47333335T>C | CA380314568 | MYBPC3 | c.3191-2A>G (n.3191-2A>G) c.3173-2A>G (n.3173-2A>G) c.3110-2A>G (n.3110-2A>G) | gnomAD v4 |
11 | g.47333335T>G | CA380314569 | MYBPC3 | c.3191-2A>C (n.3191-2A>C) c.3173-2A>C (n.3173-2A>C) c.3110-2A>C (n.3110-2A>C) | |
11 | g.47333335T= | CA1969335416 | MYBPC3 | c.3191-2A= (n.3191-2A=) c.3173-2A= (n.3173-2A=) c.3110-2A= (n.3110-2A=) | |
11 | g.47333336G>A | CA599374339 | MYBPC3 | c.3191-3C>T (n.3191-3C>T) c.3173-3C>T (n.3173-3C>T) c.3110-3C>T (n.3110-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333336G>C | CA16619334 | MYBPC3 | c.3191-3C>G (n.3191-3C>G) c.3173-3C>G (n.3173-3C>G) c.3110-3C>G (n.3110-3C>G) | ClinVar dbSNP |
11 | g.47333336G= | CA1969335418 | MYBPC3 | c.3191-3C= (n.3191-3C=) c.3173-3C= (n.3173-3C=) c.3110-3C= (n.3110-3C=) | |
11 | g.47333336G>T | CA2613393608 | MYBPC3 | c.3191-3C>A (n.3191-3C>A) c.3173-3C>A (n.3173-3C>A) c.3110-3C>A (n.3110-3C>A) | gnomAD v4 |
11 | g.47333337C>A | CA2613393612 | MYBPC3 | c.3191-4G>T (n.3191-4G>T) c.3173-4G>T (n.3173-4G>T) c.3110-4G>T (n.3110-4G>T) | ClinVar gnomAD v4 |
11 | g.47333337C= | CA1969335421 | MYBPC3 | c.3191-4G= (n.3191-4G=) c.3173-4G= (n.3173-4G=) c.3110-4G= (n.3110-4G=) | |
11 | g.47333337C>G | CA2613393611 | MYBPC3 | c.3191-4G>C (n.3191-4G>C) c.3173-4G>C (n.3173-4G>C) c.3110-4G>C (n.3110-4G>C) | gnomAD v4 |
11 | g.47333337C>T | CA079219 | MYBPC3 | c.3191-4G>A (n.3191-4G>A) c.3173-4G>A (n.3173-4G>A) c.3110-4G>A (n.3110-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333337_47333338insAGCACCAGCGTGGCCTTGTCCTCCATGTTC | CA599374340 | MYBPC3 | c.3191-4_3191-3insAACATGGAGGACAAGGCCACGCTGGTGCTG (n.3191-4_3191-3insAACATGGAGGACAAGGCCACGCTGGTGCTG) c.3173-4_3173-3insAACATGGAGGACAAGGCCACGCTGGTGCTG (n.3173-4_3173-3insAACATGGAGGACAAGGCCACGCTGGTGCTG) c.3110-4_3110-3insAACATGGAGGACAAGGCCACGCTGGTGCTG (n.3110-4_3110-3insAACATGGAGGACAAGGCCACGCTGGTGCTG) | dbSNP gnomAD v2 |
11 | g.47333338G>A | CA599374341 | MYBPC3 | c.3191-5C>T (n.3191-5C>T) c.3173-5C>T (n.3173-5C>T) c.3110-5C>T (n.3110-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333338G= | CA1969335423 | MYBPC3 | c.3191-5C= (n.3191-5C=) c.3173-5C= (n.3173-5C=) c.3110-5C= (n.3110-5C=) | |
11 | g.47333338G>T | CA2613393615 | MYBPC3 | c.3191-5C>A (n.3191-5C>A) c.3173-5C>A (n.3173-5C>A) c.3110-5C>A (n.3110-5C>A) | gnomAD v4 |
11 | g.47333340dup | CA2841271697 | MYBPC3 | c.3191-5dup (n.3191-5dup) c.3173-5dup (n.3173-5dup) c.3110-5dup (n.3110-5dup) | |
11 | g.47333339G>A | CA676990950 | MYBPC3 | c.3191-6C>T (n.3191-6C>T) c.3173-6C>T (n.3173-6C>T) c.3110-6C>T (n.3110-6C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333339G>C | CA2613393618 | MYBPC3 | c.3191-6C>G (n.3191-6C>G) c.3173-6C>G (n.3173-6C>G) c.3110-6C>G (n.3110-6C>G) | gnomAD v4 |
11 | g.47333339G= | CA1969335425 | MYBPC3 | c.3191-6C= (n.3191-6C=) c.3173-6C= (n.3173-6C=) c.3110-6C= (n.3110-6C=) | |
11 | g.47333339G>T | CA2613393619 | MYBPC3 | c.3191-6C>A (n.3191-6C>A) c.3173-6C>A (n.3173-6C>A) c.3110-6C>A (n.3110-6C>A) | gnomAD v4 |
11 | g.47333340G>A | CA10631009 | MYBPC3 | c.3191-7C>T (n.3191-7C>T) c.3173-7C>T (n.3173-7C>T) c.3110-7C>T (n.3110-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333340G>C | CA1139659390 | MYBPC3 | c.3191-7C>G (n.3191-7C>G) c.3173-7C>G (n.3173-7C>G) c.3110-7C>G (n.3110-7C>G) | ClinVar dbSNP |
11 | g.47333340G= | CA1969335427 | MYBPC3 | c.3191-7C= (n.3191-7C=) c.3173-7C= (n.3173-7C=) c.3110-7C= (n.3110-7C=) | |
11 | g.47333340G>T | CA2613393623 | MYBPC3 | c.3191-7C>A (n.3191-7C>A) c.3173-7C>A (n.3173-7C>A) c.3110-7C>A (n.3110-7C>A) | gnomAD v4 |
11 | g.47333342_47333343del | CA2580615687 | MYBPC3 | c.3191-8_3191-7del (n.3191-8_3191-7del) c.3173-8_3173-7del (n.3173-8_3173-7del) c.3110-8_3110-7del (n.3110-8_3110-7del) | ClinVar dbSNP |
11 | g.47333341A>G | CA2613393624 | MYBPC3 | c.3191-8T>C (n.3191-8T>C) c.3173-8T>C (n.3173-8T>C) c.3110-8T>C (n.3110-8T>C) | gnomAD v4 |
11 | g.47333341A>T | CA2613393625 | MYBPC3 | c.3191-8T>A (n.3191-8T>A) c.3173-8T>A (n.3173-8T>A) c.3110-8T>A (n.3110-8T>A) | gnomAD v4 |
11 | g.47333342G>A | CA599374342 | MYBPC3 | c.3191-9C>T (n.3191-9C>T) c.3173-9C>T (n.3173-9C>T) c.3110-9C>T (n.3110-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333342G= | CA1969335430 | MYBPC3 | c.3191-9C= (n.3191-9C=) c.3173-9C= (n.3173-9C=) c.3110-9C= (n.3110-9C=) | |
11 | g.47333342G>T | CA2613393631 | MYBPC3 | c.3191-9C>A (n.3191-9C>A) c.3173-9C>A (n.3173-9C>A) c.3110-9C>A (n.3110-9C>A) | gnomAD v4 |
11 | g.47333343A>G | CA2613393633 | MYBPC3 | c.3191-10T>C (n.3191-10T>C) c.3173-10T>C (n.3173-10T>C) c.3110-10T>C (n.3110-10T>C) | gnomAD v4 |
11 | g.47333343A>T | CA2613393632 | MYBPC3 | c.3191-10T>A (n.3191-10T>A) c.3173-10T>A (n.3173-10T>A) c.3110-10T>A (n.3110-10T>A) | gnomAD v4 |
11 | g.47333344C>A | CA2613393634 | MYBPC3 | c.3191-11G>T (n.3191-11G>T) c.3173-11G>T (n.3173-11G>T) c.3110-11G>T (n.3110-11G>T) | gnomAD v4 |
11 | g.47333344C>T | CA2613393635 | MYBPC3 | c.3191-11G>A (n.3191-11G>A) c.3173-11G>A (n.3173-11G>A) c.3110-11G>A (n.3110-11G>A) | gnomAD v4 |
11 | g.47333345A>G | CA2613393637 | MYBPC3 | c.3191-12T>C (n.3191-12T>C) c.3173-12T>C (n.3173-12T>C) c.3110-12T>C (n.3110-12T>C) | gnomAD v4 |
11 | g.47333346G>A | CA2613393639 | MYBPC3 | c.3191-13C>T (n.3191-13C>T) c.3173-13C>T (n.3173-13C>T) c.3110-13C>T (n.3110-13C>T) | gnomAD v4 |
11 | g.47333346G>T | CA2613393640 | MYBPC3 | c.3191-13C>A (n.3191-13C>A) c.3173-13C>A (n.3173-13C>A) c.3110-13C>A (n.3110-13C>A) | gnomAD v4 |
11 | g.47333347A= | CA1969335431 | MYBPC3 | c.3191-14T= (n.3191-14T=) c.3173-14T= (n.3173-14T=) c.3110-14T= (n.3110-14T=) | |
11 | g.47333347A>C | CA079202 | MYBPC3 | c.3191-14T>G (n.3191-14T>G) c.3173-14T>G (n.3173-14T>G) c.3110-14T>G (n.3110-14T>G) | dbSNP ExAC |
11 | g.47333347A>G | CA2613393641 | MYBPC3 | c.3191-14T>C (n.3191-14T>C) c.3173-14T>C (n.3173-14T>C) c.3110-14T>C (n.3110-14T>C) | gnomAD v4 |
11 | g.47333348C>A | CA2613393644 | MYBPC3 | c.3191-15G>T (n.3191-15G>T) c.3173-15G>T (n.3173-15G>T) c.3110-15G>T (n.3110-15G>T) | gnomAD v4 |
11 | g.47333348C= | CA1969335433 | MYBPC3 | c.3191-15G= (n.3191-15G=) c.3173-15G= (n.3173-15G=) c.3110-15G= (n.3110-15G=) | |
11 | g.47333348C>G | CA913187665 | MYBPC3 | c.3191-15G>C (n.3191-15G>C) c.3173-15G>C (n.3173-15G>C) c.3110-15G>C (n.3110-15G>C) | ClinVar dbSNP |
11 | g.47333348C>T | CA599374343 | MYBPC3 | c.3191-15G>A (n.3191-15G>A) c.3173-15G>A (n.3173-15G>A) c.3110-15G>A (n.3110-15G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333350del | CA2841271698 | MYBPC3 | c.3191-15del (n.3191-15del) c.3173-15del (n.3173-15del) c.3110-15del (n.3110-15del) | |
11 | g.47333349C>A | CA079204 | MYBPC3 | c.3191-16G>T (n.3191-16G>T) c.3173-16G>T (n.3173-16G>T) c.3110-16G>T (n.3110-16G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333349C= | CA1969335434 | MYBPC3 | c.3191-16G= (n.3191-16G=) c.3173-16G= (n.3173-16G=) c.3110-16G= (n.3110-16G=) | |
11 | g.47333349C>T | CA2613393645 | MYBPC3 | c.3191-16G>A (n.3191-16G>A) c.3173-16G>A (n.3173-16G>A) c.3110-16G>A (n.3110-16G>A) | gnomAD v4 |
11 | g.47333350C>A | CA2574815756 | MYBPC3 | c.3191-17G>T (n.3191-17G>T) c.3173-17G>T (n.3173-17G>T) c.3110-17G>T (n.3110-17G>T) | gnomAD v4 |
11 | g.47333350C>T | CA2574815757 | MYBPC3 | c.3191-17G>A (n.3191-17G>A) c.3173-17G>A (n.3173-17G>A) c.3110-17G>A (n.3110-17G>A) | gnomAD v4 |
11 | g.47333351A>C | CA2613393650 | MYBPC3 | c.3191-18T>G (n.3191-18T>G) c.3173-18T>G (n.3173-18T>G) c.3110-18T>G (n.3110-18T>G) | gnomAD v4 |
11 | g.47333351A>G | CA2613393649 | MYBPC3 | c.3191-18T>C (n.3191-18T>C) c.3173-18T>C (n.3173-18T>C) c.3110-18T>C (n.3110-18T>C) | gnomAD v4 |
11 | g.47333351A>T | CA2613393647 | MYBPC3 | c.3191-18T>A (n.3191-18T>A) c.3173-18T>A (n.3173-18T>A) c.3110-18T>A (n.3110-18T>A) | gnomAD v4 |
11 | g.47333352G>A | CA599374344 | MYBPC3 | c.3191-19C>T (n.3191-19C>T) c.3173-19C>T (n.3173-19C>T) c.3110-19C>T (n.3110-19C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333352G= | CA1969335436 | MYBPC3 | c.3191-19C= (n.3191-19C=) c.3173-19C= (n.3173-19C=) c.3110-19C= (n.3110-19C=) | |
11 | g.47333352G>T | CA2613393652 | MYBPC3 | c.3191-19C>A (n.3191-19C>A) c.3173-19C>A (n.3173-19C>A) c.3110-19C>A (n.3110-19C>A) | gnomAD v4 |
11 | g.47333353T>A | CA2613393653 | MYBPC3 | c.3191-20A>T (n.3191-20A>T) c.3173-20A>T (n.3173-20A>T) c.3110-20A>T (n.3110-20A>T) | gnomAD v4 |
11 | g.47333353T>C | CA2574815758 | MYBPC3 | c.3191-20A>G (n.3191-20A>G) c.3173-20A>G (n.3173-20A>G) c.3110-20A>G (n.3110-20A>G) | gnomAD v4 |
11 | g.47333354dup | CA2580084231 | MYBPC3 | c.3191-20dup (n.3191-20dup) c.3173-20dup (n.3173-20dup) c.3110-20dup (n.3110-20dup) | ClinVar |
11 | g.47333354T>A | CA2581005429 | MYBPC3 | c.3191-21A>T (n.3191-21A>T) c.3173-21A>T (n.3173-21A>T) c.3110-21A>T (n.3110-21A>T) | |
11 | g.47333354T>C | CA013655 | MYBPC3 | c.3191-21A>G (n.3191-21A>G) c.3173-21A>G (n.3173-21A>G) c.3110-21A>G (n.3110-21A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333354T>G | CA2581005428 | MYBPC3 | c.3191-21A>C (n.3191-21A>C) c.3173-21A>C (n.3173-21A>C) c.3110-21A>C (n.3110-21A>C) | |
11 | g.47333354T= | CA1630848694 | MYBPC3 | c.3191-21A= (n.3191-21A=) c.3173-21A= (n.3173-21A=) c.3110-21A= (n.3110-21A=) | |
11 | g.47333355G>A | CA1969335439 | MYBPC3 | c.3191-22C>T (n.3191-22C>T) c.3173-22C>T (n.3173-22C>T) c.3110-22C>T (n.3110-22C>T) | dbSNP gnomAD v4 |
11 | g.47333355G= | CA1969335437 | MYBPC3 | c.3191-22C= (n.3191-22C=) c.3173-22C= (n.3173-22C=) c.3110-22C= (n.3110-22C=) | |
11 | g.47333355G>T | CA2613393655 | MYBPC3 | c.3191-22C>A (n.3191-22C>A) c.3173-22C>A (n.3173-22C>A) c.3110-22C>A (n.3110-22C>A) | gnomAD v4 |
11 | g.47333357del | CA2838882484 | MYBPC3 | c.3191-22del (n.3191-22del) c.3173-22del (n.3173-22del) c.3110-22del (n.3110-22del) | |
11 | g.47333356G>A | CA079206 | MYBPC3 | c.3191-23C>T (n.3191-23C>T) c.3173-23C>T (n.3173-23C>T) c.3110-23C>T (n.3110-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333356G>C | CA2613393656 | MYBPC3 | c.3191-23C>G (n.3191-23C>G) c.3173-23C>G (n.3173-23C>G) c.3110-23C>G (n.3110-23C>G) | gnomAD v4 |
11 | g.47333356G= | CA1969335440 | MYBPC3 | c.3191-23C= (n.3191-23C=) c.3173-23C= (n.3173-23C=) c.3110-23C= (n.3110-23C=) | |
11 | g.47333356G>T | CA2613393657 | MYBPC3 | c.3191-23C>A (n.3191-23C>A) c.3173-23C>A (n.3173-23C>A) c.3110-23C>A (n.3110-23C>A) | gnomAD v4 |
11 | g.47333357G>A | CA654413179 | MYBPC3 | c.3191-24C>T (n.3191-24C>T) c.3173-24C>T (n.3173-24C>T) c.3110-24C>T (n.3110-24C>T) | gnomAD v4 COSMIC |
11 | g.47333358T>A | CA2791331012 | MYBPC3 | c.3191-25A>T (n.3191-25A>T) c.3173-25A>T (n.3173-25A>T) c.3110-25A>T (n.3110-25A>T) | |
11 | g.47333358T>G | CA1969335443 | MYBPC3 | c.3191-25A>C (n.3191-25A>C) c.3173-25A>C (n.3173-25A>C) c.3110-25A>C (n.3110-25A>C) | dbSNP |
11 | g.47333358T= | CA1969335442 | MYBPC3 | c.3191-25A= (n.3191-25A=) c.3173-25A= (n.3173-25A=) c.3110-25A= (n.3110-25A=) | |
11 | g.47333359C>A | CA2613393661 | MYBPC3 | c.3191-26G>T (n.3191-26G>T) c.3173-26G>T (n.3173-26G>T) c.3110-26G>T (n.3110-26G>T) | gnomAD v4 |
11 | g.47333359C>T | CA2613393662 | MYBPC3 | c.3191-26G>A (n.3191-26G>A) c.3173-26G>A (n.3173-26G>A) c.3110-26G>A (n.3110-26G>A) | gnomAD v4 |
11 | g.47333360del | CA2838882474 | MYBPC3 | c.3191-27del (n.3191-27del) c.3173-27del (n.3173-27del) c.3110-27del (n.3110-27del) | |
11 | g.47333361C>A | CA2613393664 | MYBPC3 | c.3191-28G>T (n.3191-28G>T) c.3173-28G>T (n.3173-28G>T) c.3110-28G>T (n.3110-28G>T) | gnomAD v4 |
11 | g.47333361C= | CA1969335444 | MYBPC3 | c.3191-28G= (n.3191-28G=) c.3173-28G= (n.3173-28G=) c.3110-28G= (n.3110-28G=) | |
11 | g.47333361C>T | CA599374314 | MYBPC3 | c.3191-28G>A (n.3191-28G>A) c.3173-28G>A (n.3173-28G>A) c.3110-28G>A (n.3110-28G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333362del | CA2724174334 | MYBPC3 | c.3191-28del (n.3191-28del) c.3173-28del (n.3173-28del) c.3110-28del (n.3110-28del) | dbSNP |
11 | g.47333362C>A | CA2613393665 | MYBPC3 | c.3191-29G>T (n.3191-29G>T) c.3173-29G>T (n.3173-29G>T) c.3110-29G>T (n.3110-29G>T) | gnomAD v4 |
11 | g.47333362C>T | CA2613393666 | MYBPC3 | c.3191-29G>A (n.3191-29G>A) c.3173-29G>A (n.3173-29G>A) c.3110-29G>A (n.3110-29G>A) | dbSNP gnomAD v4 |
11 | g.47333363A>G | CA2613393668 | MYBPC3 | c.3191-30T>C (n.3191-30T>C) c.3173-30T>C (n.3173-30T>C) c.3110-30T>C (n.3110-30T>C) | gnomAD v4 |
11 | g.47333364C>A | CA079209 | MYBPC3 | c.3191-31G>T (n.3191-31G>T) c.3173-31G>T (n.3173-31G>T) c.3110-31G>T (n.3110-31G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333364C= | CA1969335446 | MYBPC3 | c.3191-31G= (n.3191-31G=) c.3173-31G= (n.3173-31G=) c.3110-31G= (n.3110-31G=) | |
11 | g.47333364C>T | CA079208 | MYBPC3 | c.3191-31G>A (n.3191-31G>A) c.3173-31G>A (n.3173-31G>A) c.3110-31G>A (n.3110-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333365G>A | CA079211 | MYBPC3 | c.3191-32C>T (n.3191-32C>T) c.3173-32C>T (n.3173-32C>T) c.3110-32C>T (n.3110-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333365G= | CA1969335448 | MYBPC3 | c.3191-32C= (n.3191-32C=) c.3173-32C= (n.3173-32C=) c.3110-32C= (n.3110-32C=) | |
11 | g.47333365G>T | CA2613393674 | MYBPC3 | c.3191-32C>A (n.3191-32C>A) c.3173-32C>A (n.3173-32C>A) c.3110-32C>A (n.3110-32C>A) | gnomAD v4 |
11 | g.47333366C>A | CA2613393675 | MYBPC3 | c.3191-33G>T (n.3191-33G>T) c.3173-33G>T (n.3173-33G>T) c.3110-33G>T (n.3110-33G>T) | gnomAD v4 |
11 | g.47333367C>A | CA2613393676 | MYBPC3 | c.3191-34G>T (n.3191-34G>T) c.3173-34G>T (n.3173-34G>T) c.3110-34G>T (n.3110-34G>T) | gnomAD v4 |
11 | g.47333367C= | CA1969335449 | MYBPC3 | c.3191-34G= (n.3191-34G=) c.3173-34G= (n.3173-34G=) c.3110-34G= (n.3110-34G=) | |
11 | g.47333367C>T | CA599374315 | MYBPC3 | c.3191-34G>A (n.3191-34G>A) c.3173-34G>A (n.3173-34G>A) c.3110-34G>A (n.3110-34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333368T>A | CA2613393678 | MYBPC3 | c.3191-35A>T (n.3191-35A>T) c.3173-35A>T (n.3173-35A>T) c.3110-35A>T (n.3110-35A>T) | gnomAD v4 |
11 | g.47333368T>C | CA2574815759 | MYBPC3 | c.3191-35A>G (n.3191-35A>G) c.3173-35A>G (n.3173-35A>G) c.3110-35A>G (n.3110-35A>G) | gnomAD v4 |
11 | g.47333368_47333369delinsTC | CA1969335450 | MYBPC3 | c.3191-36_3191-35delinsGA (n.3191-36_3191-35delinsGA) c.3173-36_3173-35delinsGA (n.3173-36_3173-35delinsGA) c.3110-36_3110-35delinsGA (n.3110-36_3110-35delinsGA) | |
11 | g.47333369C>A | CA2613393680 | MYBPC3 | c.3191-36G>T (n.3191-36G>T) c.3173-36G>T (n.3173-36G>T) c.3110-36G>T (n.3110-36G>T) | gnomAD v4 |
11 | g.47333369C= | CA1969335451 | MYBPC3 | c.3191-36G= (n.3191-36G=) c.3173-36G= (n.3173-36G=) c.3110-36G= (n.3110-36G=) | |
11 | g.47333369C>T | CA079212 | MYBPC3 | c.3191-36G>A (n.3191-36G>A) c.3173-36G>A (n.3173-36G>A) c.3110-36G>A (n.3110-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333370del | CA676990988 | MYBPC3 | c.3191-36del (n.3191-36del) c.3173-36del (n.3173-36del) c.3110-36del (n.3110-36del) | dbSNP gnomAD v4 |
11 | g.47333370C>A | CA2613393682 | MYBPC3 | c.3191-37G>T (n.3191-37G>T) c.3173-37G>T (n.3173-37G>T) c.3110-37G>T (n.3110-37G>T) | gnomAD v4 |
11 | g.47333370C= | CA1969335453 | MYBPC3 | c.3191-37G= (n.3191-37G=) c.3173-37G= (n.3173-37G=) c.3110-37G= (n.3110-37G=) | |
11 | g.47333370C>T | CA937666075 | MYBPC3 | c.3191-37G>A (n.3191-37G>A) c.3173-37G>A (n.3173-37G>A) c.3110-37G>A (n.3110-37G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333371del | CA2613393684 | MYBPC3 | c.3191-38del (n.3191-38del) c.3173-38del (n.3173-38del) c.3110-38del (n.3110-38del) | gnomAD v4 |
11 | g.47333371T>C | CA2613393686 | MYBPC3 | c.3191-38A>G (n.3191-38A>G) c.3173-38A>G (n.3173-38A>G) c.3110-38A>G (n.3110-38A>G) | gnomAD v4 |
11 | g.47333372G>A | CA2613393687 | MYBPC3 | c.3191-39C>T (n.3191-39C>T) c.3173-39C>T (n.3173-39C>T) c.3110-39C>T (n.3110-39C>T) | gnomAD v4 |
11 | g.47333372G>T | CA2613393688 | MYBPC3 | c.3191-39C>A (n.3191-39C>A) c.3173-39C>A (n.3173-39C>A) c.3110-39C>A (n.3110-39C>A) | gnomAD v4 |
11 | g.47333373A>G | CA2613393689 | MYBPC3 | c.3191-40T>C (n.3191-40T>C) c.3173-40T>C (n.3173-40T>C) c.3110-40T>C (n.3110-40T>C) | gnomAD v4 |
11 | g.47333373A>T | CA2841271699 | MYBPC3 | c.3191-40T>A (n.3191-40T>A) c.3173-40T>A (n.3173-40T>A) c.3110-40T>A (n.3110-40T>A) | |
11 | g.47333374C>A | CA2613393690 | MYBPC3 | c.3191-41G>T (n.3191-41G>T) c.3173-41G>T (n.3173-41G>T) c.3110-41G>T (n.3110-41G>T) | gnomAD v4 |
11 | g.47333374C>G | CA2613393691 | MYBPC3 | c.3191-41G>C (n.3191-41G>C) c.3173-41G>C (n.3173-41G>C) c.3110-41G>C (n.3110-41G>C) | gnomAD v4 |
11 | g.47333374C>T | CA2613393692 | MYBPC3 | c.3191-41G>A (n.3191-41G>A) c.3173-41G>A (n.3173-41G>A) c.3110-41G>A (n.3110-41G>A) | gnomAD v4 |
11 | g.47333374_47333378delinsCAGTG | CA1969335454 | MYBPC3 | c.3191-45_3191-41delinsCACTG (n.3191-45_3191-41delinsCACTG) c.3173-45_3173-41delinsCACTG (n.3173-45_3173-41delinsCACTG) c.3110-45_3110-41delinsCACTG (n.3110-45_3110-41delinsCACTG) | |
11 | g.47333375A= | CA1969335456 | MYBPC3 | c.3191-42T= (n.3191-42T=) c.3173-42T= (n.3173-42T=) c.3110-42T= (n.3110-42T=) | |
11 | g.47333375A>C | CA676990999 | MYBPC3 | c.3191-42T>G (n.3191-42T>G) c.3173-42T>G (n.3173-42T>G) c.3110-42T>G (n.3110-42T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333375A>G | CA5975362 | MYBPC3 | c.3191-42T>C (n.3191-42T>C) c.3173-42T>C (n.3173-42T>C) c.3110-42T>C (n.3110-42T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333375_47333376delinsAG | CA1969335458 | MYBPC3 | c.3191-43_3191-42delinsCT (n.3191-43_3191-42delinsCT) c.3173-43_3173-42delinsCT (n.3173-43_3173-42delinsCT) c.3110-43_3110-42delinsCT (n.3110-43_3110-42delinsCT) | |
11 | g.47333377_47333380del | CA1969335455 | MYBPC3 | c.3191-45_3191-42del (n.3191-45_3191-42del) c.3173-45_3173-42del (n.3173-45_3173-42del) c.3110-45_3110-42del (n.3110-45_3110-42del) | ClinVar dbSNP gnomAD v4 |
11 | g.47333376del | CA5975361 | MYBPC3 | c.3191-43del (n.3191-43del) c.3173-43del (n.3173-43del) c.3110-43del (n.3110-43del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333376G>A | CA654413181 | MYBPC3 | c.3191-43C>T (n.3191-43C>T) c.3173-43C>T (n.3173-43C>T) c.3110-43C>T (n.3110-43C>T) | gnomAD v4 COSMIC |
11 | g.47333377del | CA380314571 | MYBPC3 | c.3191-44del (n.3191-44del) c.3173-44del (n.3173-44del) c.3110-44del (n.3110-44del) | |
11 | g.47333377T>A | CA2613393697 | MYBPC3 | c.3191-44A>T (n.3191-44A>T) c.3173-44A>T (n.3173-44A>T) c.3110-44A>T (n.3110-44A>T) | gnomAD v4 |
11 | g.47333377T>G | CA937666080 | MYBPC3 | c.3191-44A>C (n.3191-44A>C) c.3173-44A>C (n.3173-44A>C) c.3110-44A>C (n.3110-44A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333377T= | CA1969335459 | MYBPC3 | c.3191-44A= (n.3191-44A=) c.3173-44A= (n.3173-44A=) c.3110-44A= (n.3110-44A=) |