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.47333173_47333188del | CA2613393125 | MYBPC3 | c.3330+10_3330+25del (n.3330+10_3330+25del) c.3312+10_3312+25del (n.3312+10_3312+25del) c.3249+10_3249+25del (n.3249+10_3249+25del) | gnomAD v4 |
11 | g.47333180G>C | CA079293 | MYBPC3 | c.3330+14C>G (n.3330+14C>G) c.3312+14C>G (n.3312+14C>G) c.3249+14C>G (n.3249+14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333180G= | CA1969335047 | MYBPC3 | c.3330+14C= (n.3330+14C=) c.3312+14C= (n.3312+14C=) c.3249+14C= (n.3249+14C=) | |
11 | g.47333180G>T | CA2613393141 | MYBPC3 | c.3330+14C>A (n.3330+14C>A) c.3312+14C>A (n.3312+14C>A) c.3249+14C>A (n.3249+14C>A) | gnomAD v4 |
11 | g.47333182C>A | CA2613393142 | MYBPC3 | c.3330+12G>T (n.3330+12G>T) c.3312+12G>T (n.3312+12G>T) c.3249+12G>T (n.3249+12G>T) | gnomAD v4 |
11 | g.47333182C= | CA1969335049 | MYBPC3 | c.3330+12G= (n.3330+12G=) c.3312+12G= (n.3312+12G=) c.3249+12G= (n.3249+12G=) | |
11 | g.47333182C>T | CA599374335 | MYBPC3 | c.3330+12G>A (n.3330+12G>A) c.3312+12G>A (n.3312+12G>A) c.3249+12G>A (n.3249+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333183C>A | CA2613393144 | MYBPC3 | c.3330+11G>T (n.3330+11G>T) c.3312+11G>T (n.3312+11G>T) c.3249+11G>T (n.3249+11G>T) | gnomAD v4 |
11 | g.47333183C= | CA1969335054 | MYBPC3 | c.3330+11G= (n.3330+11G=) c.3312+11G= (n.3312+11G=) c.3249+11G= (n.3249+11G=) | |
11 | g.47333183C>T | CA599374336 | MYBPC3 | c.3330+11G>A (n.3330+11G>A) c.3312+11G>A (n.3312+11G>A) c.3249+11G>A (n.3249+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333184C>A | CA2613393146 | MYBPC3 | c.3330+10G>T (n.3330+10G>T) c.3312+10G>T (n.3312+10G>T) c.3249+10G>T (n.3249+10G>T) | gnomAD v4 |
11 | g.47333184C>T | CA2613393148 | MYBPC3 | c.3330+10G>A (n.3330+10G>A) c.3312+10G>A (n.3312+10G>A) c.3249+10G>A (n.3249+10G>A) | gnomAD v4 |
11 | g.47333185T>C | CA599374337 | MYBPC3 | c.3330+9A>G (n.3330+9A>G) c.3312+9A>G (n.3312+9A>G) c.3249+9A>G (n.3249+9A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333185T= | CA1969335056 | MYBPC3 | c.3330+9A= (n.3330+9A=) c.3312+9A= (n.3312+9A=) c.3249+9A= (n.3249+9A=) | |
11 | g.47333186G>A | CA2507265124 | MYBPC3 | c.3330+8C>T (n.3330+8C>T) c.3312+8C>T (n.3312+8C>T) c.3249+8C>T (n.3249+8C>T) | gnomAD v4 |
11 | g.47333186G>T | CA2613393149 | MYBPC3 | c.3330+8C>A (n.3330+8C>A) c.3312+8C>A (n.3312+8C>A) c.3249+8C>A (n.3249+8C>A) | gnomAD v4 |
11 | g.47333187G>A | CA2613393150 | MYBPC3 | c.3330+7C>T (n.3330+7C>T) c.3312+7C>T (n.3312+7C>T) c.3249+7C>T (n.3249+7C>T) | gnomAD v4 |
11 | g.47333187G>T | CA2613393151 | MYBPC3 | c.3330+7C>A (n.3330+7C>A) c.3312+7C>A (n.3312+7C>A) c.3249+7C>A (n.3249+7C>A) | gnomAD v4 |
11 | g.47333188G>A | CA2613393152 | MYBPC3 | c.3330+6C>T (n.3330+6C>T) c.3312+6C>T (n.3312+6C>T) c.3249+6C>T (n.3249+6C>T) | gnomAD v4 |
11 | g.47333188G>T | CA2613393153 | MYBPC3 | c.3330+6C>A (n.3330+6C>A) c.3312+6C>A (n.3312+6C>A) c.3249+6C>A (n.3249+6C>A) | gnomAD v4 |
11 | g.47333189C>A | CA013974 | MYBPC3 | c.3330+5G>T (n.3330+5G>T) c.3312+5G>T (n.3312+5G>T) c.3249+5G>T (n.3249+5G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47333189C= | CA1969335072 | MYBPC3 | c.3330+5G= (n.3330+5G=) c.3312+5G= (n.3312+5G=) c.3249+5G= (n.3249+5G=) | |
11 | g.47333189C>G | CA013966 | MYBPC3 | c.3330+5G>C (n.3330+5G>C) c.3312+5G>C (n.3312+5G>C) c.3249+5G>C (n.3249+5G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333189C>T | CA013957 | MYBPC3 | c.3330+5G>A (n.3330+5G>A) c.3312+5G>A (n.3312+5G>A) c.3249+5G>A (n.3249+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333191C>A | CA916081636 | MYBPC3 | c.3330+3G>T (n.3330+3G>T) c.3312+3G>T (n.3312+3G>T) c.3249+3G>T (n.3249+3G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47333191C= | CA1969335076 | MYBPC3 | c.3330+3G= (n.3330+3G=) c.3312+3G= (n.3312+3G=) c.3249+3G= (n.3249+3G=) | |
11 | g.47333191C>T | CA2613393159 | MYBPC3 | c.3330+3G>A (n.3330+3G>A) c.3312+3G>A (n.3312+3G>A) c.3249+3G>A (n.3249+3G>A) | ClinVar gnomAD v4 |
11 | g.47333192A= | CA1969335082 | MYBPC3 | c.3330+2T= (n.3330+2T=) c.3312+2T= (n.3312+2T=) c.3249+2T= (n.3249+2T=) | |
11 | g.47333192A>C | CA013951 | MYBPC3 | c.3330+2T>G (n.3330+2T>G) c.3312+2T>G (n.3312+2T>G) c.3249+2T>G (n.3249+2T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333192A>G | CA013942 | MYBPC3 | c.3330+2T>C (n.3330+2T>C) c.3312+2T>C (n.3312+2T>C) c.3249+2T>C (n.3249+2T>C) | ClinVar dbSNP |
11 | g.47333192A>T | CA380313996 | MYBPC3 | c.3330+2T>A (n.3330+2T>A) c.3312+2T>A (n.3312+2T>A) c.3249+2T>A (n.3249+2T>A) | ClinVar dbSNP |
11 | g.47333193C>A | CA380314001 | MYBPC3 | c.3330+1G>T (n.3330+1G>T) c.3312+1G>T (n.3312+1G>T) c.3249+1G>T (n.3249+1G>T) | ClinVar dbSNP |
11 | g.47333193C= | CA1969335087 | MYBPC3 | c.3330+1G= (n.3330+1G=) c.3312+1G= (n.3312+1G=) c.3249+1G= (n.3249+1G=) | |
11 | g.47333193C>G | CA380314004 | MYBPC3 | c.3330+1G>C (n.3330+1G>C) c.3312+1G>C (n.3312+1G>C) c.3249+1G>C (n.3249+1G>C) | dbSNP |
11 | g.47333193C>T | CA380314003 | MYBPC3 | c.3330+1G>A (n.3330+1G>A) c.3312+1G>A (n.3312+1G>A) c.3249+1G>A (n.3249+1G>A) | gnomAD v4 |
11 | g.47333194C>A | CA380314006 | MYBPC3 | c.3330G>T (p.Met1110Ile) c.3312G>T (p.Met1104Ile) c.3249G>T (p.Met1083Ile) | gnomAD v4 |
11 | g.47333194C>G | CA380314010 | MYBPC3 | c.3330G>C (p.Met1110Ile) c.3312G>C (p.Met1104Ile) c.3249G>C (p.Met1083Ile) | |
11 | g.47333194C>T | CA380314008 | MYBPC3 | c.3330G>A (p.Met1110Ile) c.3312G>A (p.Met1104Ile) c.3249G>A (p.Met1083Ile) | |
11 | g.47333195A= | CA1969335090 | MYBPC3 | c.3329T= (p.Met1110=) c.3311T= (p.Met1104=) c.3248T= (p.Met1083=) | |
11 | g.47333195A>C | CA380314012 | MYBPC3 | c.3329T>G (p.Met1110Arg) c.3311T>G (p.Met1104Arg) c.3248T>G (p.Met1083Arg) | |
11 | g.47333195A>G | CA380314015 | MYBPC3 | c.3329T>C (p.Met1110Thr) c.3311T>C (p.Met1104Thr) c.3248T>C (p.Met1083Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333195A>T | CA380314014 | MYBPC3 | c.3329T>A (p.Met1110Lys) c.3311T>A (p.Met1104Lys) c.3248T>A (p.Met1083Lys) | |
11 | g.47333196del | CA2573051238 | MYBPC3 | c.3328del (p.Met1110TrpfsTer?) c.3310del (p.Met1104TrpfsTer?) c.3247del (p.Met1083TrpfsTer?) | ClinVar dbSNP |
11 | g.47333196T>A | CA380314016 | MYBPC3 | c.3328A>T (p.Met1110Leu) c.3310A>T (p.Met1104Leu) c.3247A>T (p.Met1083Leu) | |
11 | g.47333196T>C | CA380314018 | MYBPC3 | c.3328A>G (p.Met1110Val) c.3310A>G (p.Met1104Val) c.3247A>G (p.Met1083Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333196T>G | CA380314017 | MYBPC3 | c.3328A>C (p.Met1110Leu) c.3310A>C (p.Met1104Leu) c.3247A>C (p.Met1083Leu) | |
11 | g.47333196T= | CA1969335095 | MYBPC3 | c.3328A= (p.Met1110=) c.3310A= (p.Met1104=) c.3247A= (p.Met1083=) | |
11 | g.47333196_47333197delinsTG | CA1969335094 | MYBPC3 | c.3327_3328delinsCA (p.Thr1109=) c.3309_3310delinsCA (p.Thr1103=) c.3246_3247delinsCA (p.Thr1082=) | |
11 | g.47333198_47333217del | CA2573146363 | MYBPC3 | c.3309_3328del (p.Gln1103HisfsTer?) c.3291_3310del (p.Gln1097HisfsTer?) c.3228_3247del (p.Gln1076HisfsTer?) | ClinVar dbSNP |
11 | g.47333197G>A | CA474212128 | MYBPC3 | c.3327C>T (p.Thr1109=) c.3309C>T (p.Thr1103=) c.3246C>T (p.Thr1082=) | dbSNP gnomAD v4 |
11 | g.47333197G>C | CA474212126 | MYBPC3 | c.3327C>G (p.Thr1109=) c.3309C>G (p.Thr1103=) c.3246C>G (p.Thr1082=) | |
11 | g.47333197G= | CA1969335104 | MYBPC3 | c.3327C= (p.Thr1109=) c.3309C= (p.Thr1103=) c.3246C= (p.Thr1082=) | |
11 | g.47333197G>T | CA079291 | MYBPC3 | c.3327C>A (p.Thr1109=) c.3309C>A (p.Thr1103=) c.3246C>A (p.Thr1082=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333198del | CA013926 | MYBPC3 | c.3327del (p.Met1110TrpfsTer?) c.3309del (p.Met1104TrpfsTer?) c.3246del (p.Met1083TrpfsTer?) | ClinVar dbSNP |
11 | g.47333198G>A | CA013920 | MYBPC3 | c.3326C>T (p.Thr1109Ile) c.3308C>T (p.Thr1103Ile) c.3245C>T (p.Thr1082Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333198G>C | CA380314019 | MYBPC3 | c.3326C>G (p.Thr1109Ser) c.3308C>G (p.Thr1103Ser) c.3245C>G (p.Thr1082Ser) | dbSNP |
11 | g.47333198G= | CA1969335115 | MYBPC3 | c.3326C= (p.Thr1109=) c.3308C= (p.Thr1103=) c.3245C= (p.Thr1082=) | |
11 | g.47333198G>T | CA380314020 | MYBPC3 | c.3326C>A (p.Thr1109Asn) c.3308C>A (p.Thr1103Asn) c.3245C>A (p.Thr1082Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.47333198_47333200delinsGTC | CA1969335109 | MYBPC3 | c.3324_3326delinsGAC (p.Lys1108=) c.3306_3308delinsGAC (p.Lys1102=) c.3243_3245delinsGAC (p.Lys1081=) | |
11 | g.47333198_47333201delinsGTCT | CA1969335110 | MYBPC3 | c.3323_3326delinsAGAC (p.Lys1108=) c.3305_3308delinsAGAC (p.Lys1102=) c.3242_3245delinsAGAC (p.Lys1081=) | |
11 | g.47333199T>A | CA380314021 | MYBPC3 | c.3325A>T (p.Thr1109Ser) c.3307A>T (p.Thr1103Ser) c.3244A>T (p.Thr1082Ser) | |
11 | g.47333199T>C | CA380314022 | MYBPC3 | c.3325A>G (p.Thr1109Ala) c.3307A>G (p.Thr1103Ala) c.3244A>G (p.Thr1082Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47333199T>G | CA380314023 | MYBPC3 | c.3325A>C (p.Thr1109Pro) c.3307A>C (p.Thr1103Pro) c.3244A>C (p.Thr1082Pro) | |
11 | g.47333199T= | CA1969335128 | MYBPC3 | c.3325A= (p.Thr1109=) c.3307A= (p.Thr1103=) c.3244A= (p.Thr1082=) | |
11 | g.47333200_47333201del | CA16609416 | MYBPC3 | c.3324_3325del (p.Lys1108AsnfsTer?) c.3306_3307del (p.Lys1102AsnfsTer?) c.3243_3244del (p.Lys1081AsnfsTer?) | ClinVar dbSNP |
11 | g.47333203_47333205del | CA079287 | MYBPC3 | c.3323_3325del (p.Lys1108del) c.3305_3307del (p.Lys1102del) c.3242_3244del (p.Lys1081del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333200C>A | CA380314024 | MYBPC3 | c.3324G>T (p.Lys1108Asn) c.3306G>T (p.Lys1102Asn) c.3243G>T (p.Lys1081Asn) | gnomAD v4 |
11 | g.47333200C= | CA1969335134 | MYBPC3 | c.3324G= (p.Lys1108=) c.3306G= (p.Lys1102=) c.3243G= (p.Lys1081=) | |
11 | g.47333200C>G | CA079289 | MYBPC3 | c.3324G>C (p.Lys1108Asn) c.3306G>C (p.Lys1102Asn) c.3243G>C (p.Lys1081Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333200C>T | CA474212137 | MYBPC3 | c.3324G>A (p.Lys1108=) c.3306G>A (p.Lys1102=) c.3243G>A (p.Lys1081=) | |
11 | g.47333201T>A | CA053439 | MYBPC3 | c.3323A>T (p.Lys1108Met) c.3305A>T (p.Lys1102Met) c.3242A>T (p.Lys1081Met) | gnomAD v4 |
11 | g.47333201T>C | CA380314025 | MYBPC3 | c.3323A>G (p.Lys1108Arg) c.3305A>G (p.Lys1102Arg) c.3242A>G (p.Lys1081Arg) | |
11 | g.47333201T>G | CA013910 | MYBPC3 | c.3323A>C (p.Lys1108Thr) c.3305A>C (p.Lys1102Thr) c.3242A>C (p.Lys1081Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333201T= | CA1969335137 | MYBPC3 | c.3323A= (p.Lys1108=) c.3305A= (p.Lys1102=) c.3242A= (p.Lys1081=) | |
11 | g.47333202T>A | CA380314026 | MYBPC3 | c.3322A>T (p.Lys1108Ter) c.3304A>T (p.Lys1102Ter) c.3241A>T (p.Lys1081Ter) | |
11 | g.47333202T>C | CA380314027 | MYBPC3 | c.3322A>G (p.Lys1108Glu) c.3304A>G (p.Lys1102Glu) c.3241A>G (p.Lys1081Glu) | |
11 | g.47333202T>G | CA380314028 | MYBPC3 | c.3322A>C (p.Lys1108Gln) c.3304A>C (p.Lys1102Gln) c.3241A>C (p.Lys1081Gln) | |
11 | g.47333202T= | CA1969335141 | MYBPC3 | c.3322A= (p.Lys1108=) c.3304A= (p.Lys1102=) c.3241A= (p.Lys1081=) | |
11 | g.47333203C>A | CA380314029 | MYBPC3 | c.3321G>T (p.Lys1107Asn) c.3303G>T (p.Lys1101Asn) c.3240G>T (p.Lys1080Asn) | gnomAD v4 COSMIC COSMIC |
11 | g.47333203C>G | CA053474 | MYBPC3 | c.3321G>C (p.Lys1107Asn) c.3303G>C (p.Lys1101Asn) c.3240G>C (p.Lys1080Asn) | |
11 | g.47333203C>T | CA474212139 | MYBPC3 | c.3321G>A (p.Lys1107=) c.3303G>A (p.Lys1101=) c.3240G>A (p.Lys1080=) | gnomAD v4 |
11 | g.47333203dup | CA296434 | MYBPC3 | c.3321dup (p.Lys1108GlufsTer?) c.3303dup (p.Lys1102GlufsTer?) c.3240dup (p.Lys1081GlufsTer?) | ClinVar dbSNP |
11 | g.47333204T>A | CA380314030 | MYBPC3 | c.3320A>T (p.Lys1107Met) c.3302A>T (p.Lys1101Met) c.3239A>T (p.Lys1080Met) | |
11 | g.47333204T>C | CA380314031 | MYBPC3 | c.3320A>G (p.Lys1107Arg) c.3302A>G (p.Lys1101Arg) c.3239A>G (p.Lys1080Arg) | gnomAD v4 |
11 | g.47333204T>G | CA053467 | MYBPC3 | c.3320A>C (p.Lys1107Thr) c.3302A>C (p.Lys1101Thr) c.3239A>C (p.Lys1080Thr) | |
11 | g.47333205T>A | CA380314033 | MYBPC3 | c.3319A>T (p.Lys1107Ter) c.3301A>T (p.Lys1101Ter) c.3238A>T (p.Lys1080Ter) | |
11 | g.47333205T>C | CA380314034 | MYBPC3 | c.3319A>G (p.Lys1107Glu) c.3301A>G (p.Lys1101Glu) c.3238A>G (p.Lys1080Glu) | dbSNP |
11 | g.47333205T>G | CA380314032 | MYBPC3 | c.3319A>C (p.Lys1107Gln) c.3301A>C (p.Lys1101Gln) c.3238A>C (p.Lys1080Gln) | |
11 | g.47333205T= | CA1969335147 | MYBPC3 | c.3319A= (p.Lys1107=) c.3301A= (p.Lys1101=) c.3238A= (p.Lys1080=) | |
11 | g.47333206G>A | CA474212143 | MYBPC3 | c.3318C>T (p.Asp1106=) c.3300C>T (p.Asp1100=) c.3237C>T (p.Asp1079=) | |
11 | g.47333206G>C | CA053543 | MYBPC3 | c.3318C>G (p.Asp1106Glu) c.3300C>G (p.Asp1100Glu) c.3237C>G (p.Asp1079Glu) | gnomAD v4 |
11 | g.47333206G>T | CA380314035 | MYBPC3 | c.3318C>A (p.Asp1106Glu) c.3300C>A (p.Asp1100Glu) c.3237C>A (p.Asp1079Glu) | gnomAD v4 |
11 | g.47333207T>A | CA380314036 | MYBPC3 | c.3317A>T (p.Asp1106Val) c.3299A>T (p.Asp1100Val) c.3236A>T (p.Asp1079Val) | |
11 | g.47333207T>C | CA380314037 | MYBPC3 | c.3317A>G (p.Asp1106Gly) c.3299A>G (p.Asp1100Gly) c.3236A>G (p.Asp1079Gly) | |
11 | g.47333207T>G | CA380314038 | MYBPC3 | c.3317A>C (p.Asp1106Ala) c.3299A>C (p.Asp1100Ala) c.3236A>C (p.Asp1079Ala) | |
11 | g.47333208del | CA2613393216 | MYBPC3 | c.3316del (p.Asp1106ThrfsTer?) c.3298del (p.Asp1100ThrfsTer?) c.3235del (p.Asp1079ThrfsTer?) | gnomAD v4 |
11 | g.47333208C>A | CA380314040 | MYBPC3 | c.3316G>T (p.Asp1106Tyr) c.3298G>T (p.Asp1100Tyr) c.3235G>T (p.Asp1079Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333208C= | CA1969335155 | MYBPC3 | c.3316G= (p.Asp1106=) c.3298G= (p.Asp1100=) c.3235G= (p.Asp1079=) | |
11 | g.47333208C>G | CA380314039 | MYBPC3 | c.3316G>C (p.Asp1106His) c.3298G>C (p.Asp1100His) c.3235G>C (p.Asp1079His) | |
11 | g.47333208C>T | CA079283 | MYBPC3 | c.3316G>A (p.Asp1106Asn) c.3298G>A (p.Asp1100Asn) c.3235G>A (p.Asp1079Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47333208_47333209delinsCG | CA1969335157 | MYBPC3 | c.3315_3316delinsCG (p.Ala1105=) c.3297_3298delinsCG (p.Ala1099=) c.3234_3235delinsCG (p.Ala1078=) | |
11 | g.47333209G>A | CA013897 | MYBPC3 | c.3315C>T (p.Ala1105=) c.3297C>T (p.Ala1099=) c.3234C>T (p.Ala1078=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333209G>C | CA474212145 | MYBPC3 | c.3315C>G (p.Ala1105=) c.3297C>G (p.Ala1099=) c.3234C>G (p.Ala1078=) | gnomAD v4 |
11 | g.47333209G= | CA1969335175 | MYBPC3 | c.3315C= (p.Ala1105=) c.3297C= (p.Ala1099=) c.3234C= (p.Ala1078=) | |
11 | g.47333209G>T | CA013887 | MYBPC3 | c.3315C>A (p.Ala1105=) c.3297C>A (p.Ala1099=) c.3234C>A (p.Ala1078=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333210del | CA913189586 | MYBPC3 | c.3315del (p.Asp1106ThrfsTer?) c.3297del (p.Asp1100ThrfsTer?) c.3234del (p.Asp1079ThrfsTer?) | dbSNP |
11 | g.47333210G>A | CA380314041 | MYBPC3 | c.3314C>T (p.Ala1105Val) c.3296C>T (p.Ala1099Val) c.3233C>T (p.Ala1078Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333210G>C | CA013879 | MYBPC3 | c.3314C>G (p.Ala1105Gly) c.3296C>G (p.Ala1099Gly) c.3233C>G (p.Ala1078Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333210G= | CA1969335184 | MYBPC3 | c.3314C= (p.Ala1105=) c.3296C= (p.Ala1099=) c.3233C= (p.Ala1078=) | |
11 | g.47333210G>T | CA380314043 | MYBPC3 | c.3314C>A (p.Ala1105Asp) c.3296C>A (p.Ala1099Asp) c.3233C>A (p.Ala1078Asp) | gnomAD v4 |
11 | g.47333211C>A | CA380314045 | MYBPC3 | c.3313G>T (p.Ala1105Ser) c.3295G>T (p.Ala1099Ser) c.3232G>T (p.Ala1078Ser) | gnomAD v4 |
11 | g.47333211C>G | CA380314047 | MYBPC3 | c.3313G>C (p.Ala1105Pro) c.3295G>C (p.Ala1099Pro) c.3232G>C (p.Ala1078Pro) | ClinVar dbSNP |
11 | g.47333211C>T | CA053426 | MYBPC3 | c.3313G>A (p.Ala1105Thr) c.3295G>A (p.Ala1099Thr) c.3232G>A (p.Ala1078Thr) | gnomAD v4 |
11 | g.47333211_47333212insCC | CA915940858 | MYBPC3 | c.3313_3314insGG (p.Ala1105GlyfsTer?) c.3295_3296insGG (p.Ala1099GlyfsTer?) c.3232_3233insGG (p.Ala1078GlyfsTer?) | ClinVar dbSNP |
11 | g.47333212T>A | CA380314050 | MYBPC3 | c.3312A>T (p.Lys1104Asn) c.3294A>T (p.Lys1098Asn) c.3231A>T (p.Lys1077Asn) | |
11 | g.47333212T>C | CA474212146 | MYBPC3 | c.3312A>G (p.Lys1104=) c.3294A>G (p.Lys1098=) c.3231A>G (p.Lys1077=) | gnomAD v4 |
11 | g.47333212T>G | CA380314052 | MYBPC3 | c.3312A>C (p.Lys1104Asn) c.3294A>C (p.Lys1098Asn) c.3231A>C (p.Lys1077Asn) | |
11 | g.47333213T>A | CA380314054 | MYBPC3 | c.3311A>T (p.Lys1104Ile) c.3293A>T (p.Lys1098Ile) c.3230A>T (p.Lys1077Ile) | |
11 | g.47333213T>C | CA380314056 | MYBPC3 | c.3311A>G (p.Lys1104Arg) c.3293A>G (p.Lys1098Arg) c.3230A>G (p.Lys1077Arg) | dbSNP gnomAD v4 |
11 | g.47333213T>G | CA380314057 | MYBPC3 | c.3311A>C (p.Lys1104Thr) c.3293A>C (p.Lys1098Thr) c.3230A>C (p.Lys1077Thr) | |
11 | g.47333213T= | CA1969335189 | MYBPC3 | c.3311A= (p.Lys1104=) c.3293A= (p.Lys1098=) c.3230A= (p.Lys1077=) | |
11 | g.47333214T>A | CA380314058 | MYBPC3 | c.3310A>T (p.Lys1104Ter) c.3292A>T (p.Lys1098Ter) c.3229A>T (p.Lys1077Ter) | |
11 | g.47333214T>C | CA380314060 | MYBPC3 | c.3310A>G (p.Lys1104Glu) c.3292A>G (p.Lys1098Glu) c.3229A>G (p.Lys1077Glu) | |
11 | g.47333214T>G | CA380314062 | MYBPC3 | c.3310A>C (p.Lys1104Gln) c.3292A>C (p.Lys1098Gln) c.3229A>C (p.Lys1077Gln) | |
11 | g.47333215C>A | CA380314064 | MYBPC3 | c.3309G>T (p.Gln1103His) c.3291G>T (p.Gln1097His) c.3228G>T (p.Gln1076His) | gnomAD v4 |
11 | g.47333215C= | CA1969335194 | MYBPC3 | c.3309G= (p.Gln1103=) c.3291G= (p.Gln1097=) c.3228G= (p.Gln1076=) | |
11 | g.47333215C>G | CA221682453 | MYBPC3 | c.3309G>C (p.Gln1103His) c.3291G>C (p.Gln1097His) c.3228G>C (p.Gln1076His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333215C>T | CA079280 | MYBPC3 | c.3309G>A (p.Gln1103=) c.3291G>A (p.Gln1097=) c.3228G>A (p.Gln1076=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333216T>A | CA380314069 | MYBPC3 | c.3308A>T (p.Gln1103Leu) c.3290A>T (p.Gln1097Leu) c.3227A>T (p.Gln1076Leu) | |
11 | g.47333216T>C | CA380314068 | MYBPC3 | c.3308A>G (p.Gln1103Arg) c.3290A>G (p.Gln1097Arg) c.3227A>G (p.Gln1076Arg) | |
11 | g.47333216T>G | CA013870 | MYBPC3 | c.3308A>C (p.Gln1103Pro) c.3290A>C (p.Gln1097Pro) c.3227A>C (p.Gln1076Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.47333216T= | CA1969335199 | MYBPC3 | c.3308A= (p.Gln1103=) c.3290A= (p.Gln1097=) c.3227A= (p.Gln1076=) | |
11 | g.47333218_47333224del | CA2573146364 | MYBPC3 | c.3302_3308del (p.Thr1101ArgfsTer?) c.3284_3290del (p.Thr1095ArgfsTer?) c.3221_3227del (p.Thr1074ArgfsTer?) | ClinVar dbSNP |
11 | g.47333217G>A | CA380314072 | MYBPC3 | c.3307C>T (p.Gln1103Ter) c.3289C>T (p.Gln1097Ter) c.3226C>T (p.Gln1076Ter) | gnomAD v4 |
11 | g.47333217G>C | CA380314075 | MYBPC3 | c.3307C>G (p.Gln1103Glu) c.3289C>G (p.Gln1097Glu) c.3226C>G (p.Gln1076Glu) | |
11 | g.47333217G>T | CA380314074 | MYBPC3 | c.3307C>A (p.Gln1103Lys) c.3289C>A (p.Gln1097Lys) c.3226C>A (p.Gln1076Lys) | gnomAD v4 |
11 | g.47333218C>A | CA474212147 | MYBPC3 | c.3306G>T (p.Val1102=) c.3288G>T (p.Val1096=) c.3225G>T (p.Val1075=) | gnomAD v4 |
11 | g.47333218C= | CA1969335205 | MYBPC3 | c.3306G= (p.Val1102=) c.3288G= (p.Val1096=) c.3225G= (p.Val1075=) | |
11 | g.47333218C>G | CA474212148 | MYBPC3 | c.3306G>C (p.Val1102=) c.3288G>C (p.Val1096=) c.3225G>C (p.Val1075=) | gnomAD v4 |
11 | g.47333218C>T | CA053393 | MYBPC3 | c.3306G>A (p.Val1102=) c.3288G>A (p.Val1096=) c.3225G>A (p.Val1075=) | dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.47333219A= | CA1969335211 | MYBPC3 | c.3305T= (p.Val1102=) c.3287T= (p.Val1096=) c.3224T= (p.Val1075=) | |
11 | g.47333219A>C | CA380314076 | MYBPC3 | c.3305T>G (p.Val1102Gly) c.3287T>G (p.Val1096Gly) c.3224T>G (p.Val1075Gly) | |
11 | g.47333219A>G | CA380314078 | MYBPC3 | c.3305T>C (p.Val1102Ala) c.3287T>C (p.Val1096Ala) c.3224T>C (p.Val1075Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47333219A>T | CA013860 | MYBPC3 | c.3305T>A (p.Val1102Glu) c.3287T>A (p.Val1096Glu) c.3224T>A (p.Val1075Glu) | ClinVar dbSNP |
11 | g.47333220C>A | CA380314080 | MYBPC3 | c.3304G>T (p.Val1102Leu) c.3286G>T (p.Val1096Leu) c.3223G>T (p.Val1075Leu) | |
11 | g.47333220C= | CA1969335216 | MYBPC3 | c.3304G= (p.Val1102=) c.3286G= (p.Val1096=) c.3223G= (p.Val1075=) | |
11 | g.47333220C>G | CA380314082 | MYBPC3 | c.3304G>C (p.Val1102Leu) c.3286G>C (p.Val1096Leu) c.3223G>C (p.Val1075Leu) | gnomAD v4 |
11 | g.47333220C>T | CA380314084 | MYBPC3 | c.3304G>A (p.Val1102Met) c.3286G>A (p.Val1096Met) c.3223G>A (p.Val1075Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333220_47333221del | CA2697548539 | MYBPC3 | c.3303_3304del (p.Val1102AlafsTer?) c.3285_3286del (p.Val1096AlafsTer?) c.3222_3223del (p.Val1075AlafsTer?) | ClinVar |
11 | g.47333220_47333222delinsCTG | CA1969335217 | MYBPC3 | c.3302_3304delinsCAG (p.Thr1101=) c.3284_3286delinsCAG (p.Thr1095=) c.3221_3223delinsCAG (p.Thr1074=) | |
11 | g.47333221T>A | CA474212149 | MYBPC3 | c.3303A>T (p.Thr1101=) c.3285A>T (p.Thr1095=) c.3222A>T (p.Thr1074=) | dbSNP |
11 | g.47333221T>C | CA079278 | MYBPC3 | c.3303A>G (p.Thr1101=) c.3285A>G (p.Thr1095=) c.3222A>G (p.Thr1074=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333221T>G | CA474212150 | MYBPC3 | c.3303A>C (p.Thr1101=) c.3285A>C (p.Thr1095=) c.3222A>C (p.Thr1074=) | gnomAD v4 |
11 | g.47333221T= | CA1969335226 | MYBPC3 | c.3303A= (p.Thr1101=) c.3285A= (p.Thr1095=) c.3222A= (p.Thr1074=) | |
11 | g.47333221_47333222delinsTG | CA1969335223 | MYBPC3 | c.3302_3303delinsCA (p.Thr1101=) c.3284_3285delinsCA (p.Thr1095=) c.3221_3222delinsCA (p.Thr1074=) | |
11 | g.47333224_47333225del | CA013844 | MYBPC3 | c.3302_3303del (p.Thr1101SerfsTer?) c.3284_3285del (p.Thr1095SerfsTer?) c.3221_3222del (p.Thr1074SerfsTer?) | ClinVar dbSNP |
11 | g.47333222del | CA013852 | MYBPC3 | c.3302del (p.Thr1101LysfsTer?) c.3284del (p.Thr1095LysfsTer?) c.3221del (p.Thr1074LysfsTer?) | ClinVar dbSNP |
11 | g.47333222G>A | CA380314088 | MYBPC3 | c.3302C>T (p.Thr1101Ile) c.3284C>T (p.Thr1095Ile) c.3221C>T (p.Thr1074Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.47333222G>C | CA380314089 | MYBPC3 | c.3302C>G (p.Thr1101Arg) c.3284C>G (p.Thr1095Arg) c.3221C>G (p.Thr1074Arg) | dbSNP |
11 | g.47333222G= | CA1969335232 | MYBPC3 | c.3302C= (p.Thr1101=) c.3284C= (p.Thr1095=) c.3221C= (p.Thr1074=) | |
11 | g.47333222G>T | CA380314091 | MYBPC3 | c.3302C>A (p.Thr1101Lys) c.3284C>A (p.Thr1095Lys) c.3221C>A (p.Thr1074Lys) | gnomAD v4 |
11 | g.47333223T>A | CA380314098 | MYBPC3 | c.3301A>T (p.Thr1101Ser) c.3283A>T (p.Thr1095Ser) c.3220A>T (p.Thr1074Ser) | |
11 | g.47333223T>C | CA380314094 | MYBPC3 | c.3301A>G (p.Thr1101Ala) c.3283A>G (p.Thr1095Ala) c.3220A>G (p.Thr1074Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47333223T>G | CA380314096 | MYBPC3 | c.3301A>C (p.Thr1101Pro) c.3283A>C (p.Thr1095Pro) c.3220A>C (p.Thr1074Pro) | |
11 | g.47333223T= | CA1969335236 | MYBPC3 | c.3301A= (p.Thr1101=) c.3283A= (p.Thr1095=) c.3220A= (p.Thr1074=) | |
11 | g.47333224del | CA2695213923 | MYBPC3 | c.3300del (p.Tyr1100Ter) c.3282del (p.Tyr1094Ter) c.3219del (p.Tyr1073Ter) | |
11 | g.47333224G>A | CA474212152 | MYBPC3 | c.3300C>T (p.Tyr1100=) c.3282C>T (p.Tyr1094=) c.3219C>T (p.Tyr1073=) | dbSNP gnomAD v4 |
11 | g.47333224G>C | CA380314100 | MYBPC3 | c.3300C>G (p.Tyr1100Ter) c.3282C>G (p.Tyr1094Ter) c.3219C>G (p.Tyr1073Ter) | |
11 | g.47333224G= | CA1969335243 | MYBPC3 | c.3300C= (p.Tyr1100=) c.3282C= (p.Tyr1094=) c.3219C= (p.Tyr1073=) | |
11 | g.47333224G>T | CA279299 | MYBPC3 | c.3300C>A (p.Tyr1100Ter) c.3282C>A (p.Tyr1094Ter) c.3219C>A (p.Tyr1073Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47333225T>A | CA079275 | MYBPC3 | c.3299A>T (p.Tyr1100Phe) c.3281A>T (p.Tyr1094Phe) c.3218A>T (p.Tyr1073Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333225T>C | CA380314103 | MYBPC3 | c.3299A>G (p.Tyr1100Cys) c.3281A>G (p.Tyr1094Cys) c.3218A>G (p.Tyr1073Cys) | gnomAD v4 |
11 | g.47333225T>G | CA380314105 | MYBPC3 | c.3299A>C (p.Tyr1100Ser) c.3281A>C (p.Tyr1094Ser) c.3218A>C (p.Tyr1073Ser) | |
11 | g.47333225T= | CA1969335250 | MYBPC3 | c.3299A= (p.Tyr1100=) c.3281A= (p.Tyr1094=) c.3218A= (p.Tyr1073=) | |
11 | g.47333225_47333226insC | CA2695213924 | MYBPC3 | c.3298_3299insG (p.Tyr1100Ter) c.3280_3281insG (p.Tyr1094Ter) c.3217_3218insG (p.Tyr1073Ter) | |
11 | g.47333226A= | CA1969335254 | MYBPC3 | c.3298T= (p.Tyr1100=) c.3280T= (p.Tyr1094=) c.3217T= (p.Tyr1073=) | |
11 | g.47333226A>C | CA380314107 | MYBPC3 | c.3298T>G (p.Tyr1100Asp) c.3280T>G (p.Tyr1094Asp) c.3217T>G (p.Tyr1073Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333226A>G | CA380314109 | MYBPC3 | c.3298T>C (p.Tyr1100His) c.3280T>C (p.Tyr1094His) c.3217T>C (p.Tyr1073His) | gnomAD v4 |
11 | g.47333226A>T | CA079274 | MYBPC3 | c.3298T>A (p.Tyr1100Asn) c.3280T>A (p.Tyr1094Asn) c.3217T>A (p.Tyr1073Asn) | dbSNP ExAC |
11 | g.47333227C>A | CA474212157 | MYBPC3 | c.3297G>T (p.Gly1099=) c.3279G>T (p.Gly1093=) c.3216G>T (p.Gly1072=) | ClinVar dbSNP gnomAD v4 |
11 | g.47333227C= | CA1969335260 | MYBPC3 | c.3297G= (p.Gly1099=) c.3279G= (p.Gly1093=) c.3216G= (p.Gly1072=) | |
11 | g.47333227C>G | CA474212158 | MYBPC3 | c.3297G>C (p.Gly1099=) c.3279G>C (p.Gly1093=) c.3216G>C (p.Gly1072=) | dbSNP |
11 | g.47333227C>T | CA079272 | MYBPC3 | c.3297G>A (p.Gly1099=) c.3279G>A (p.Gly1093=) c.3216G>A (p.Gly1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333231dup | CA013831 | MYBPC3 | c.3297dup (p.Tyr1100ValfsTer?) c.3279dup (p.Tyr1094ValfsTer?) c.3216dup (p.Tyr1073ValfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333231del | CA2613393325 | MYBPC3 | c.3297del (p.Tyr1100ThrfsTer?) c.3279del (p.Tyr1094ThrfsTer?) c.3216del (p.Tyr1073ThrfsTer?) | gnomAD v4 |
11 | g.47333230_47333231del | CA915940862 | MYBPC3 | c.3296_3297del (p.Gly1099ValfsTer?) c.3278_3279del (p.Gly1093ValfsTer?) c.3215_3216del (p.Gly1072ValfsTer?) | |
11 | g.47333228C>A | CA380314116 | MYBPC3 | c.3296G>T (p.Gly1099Val) c.3278G>T (p.Gly1093Val) c.3215G>T (p.Gly1072Val) | gnomAD v4 |
11 | g.47333228C= | CA1969335263 | MYBPC3 | c.3296G= (p.Gly1099=) c.3278G= (p.Gly1093=) c.3215G= (p.Gly1072=) | |
11 | g.47333228C>G | CA380314115 | MYBPC3 | c.3296G>C (p.Gly1099Ala) c.3278G>C (p.Gly1093Ala) c.3215G>C (p.Gly1072Ala) | gnomAD v4 |
11 | g.47333228C>T | CA380314113 | MYBPC3 | c.3296G>A (p.Gly1099Glu) c.3278G>A (p.Gly1093Glu) c.3215G>A (p.Gly1072Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333229C>A | CA380314118 | MYBPC3 | c.3295G>T (p.Gly1099Trp) c.3277G>T (p.Gly1093Trp) c.3214G>T (p.Gly1072Trp) | ClinVar dbSNP |
11 | g.47333229C= | CA1969335265 | MYBPC3 | c.3295G= (p.Gly1099=) c.3277G= (p.Gly1093=) c.3214G= (p.Gly1072=) | |
11 | g.47333229C>G | CA16619333 | MYBPC3 | c.3295G>C (p.Gly1099Arg) c.3277G>C (p.Gly1093Arg) c.3214G>C (p.Gly1072Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333229C>T | CA380314121 | MYBPC3 | c.3295G>A (p.Gly1099Arg) c.3277G>A (p.Gly1093Arg) c.3214G>A (p.Gly1072Arg) | gnomAD v4 |
11 | g.47333230C>A | CA079269 | MYBPC3 | c.3294G>T (p.Trp1098Cys) c.3276G>T (p.Trp1092Cys) c.3213G>T (p.Trp1071Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333230C= | CA1969335267 | MYBPC3 | c.3294G= (p.Trp1098=) c.3276G= (p.Trp1092=) c.3213G= (p.Trp1071=) | |
11 | g.47333230C>G | CA380314124 | MYBPC3 | c.3294G>C (p.Trp1098Cys) c.3276G>C (p.Trp1092Cys) c.3213G>C (p.Trp1071Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.47333230C>T | CA053346 | MYBPC3 | c.3294G>A (p.Trp1098Ter) c.3276G>A (p.Trp1092Ter) c.3213G>A (p.Trp1071Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47333231C>A | CA013821 | MYBPC3 | c.3293G>T (p.Trp1098Leu) c.3275G>T (p.Trp1092Leu) c.3212G>T (p.Trp1071Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47333231C= | CA1969335270 | MYBPC3 | c.3293G= (p.Trp1098=) c.3275G= (p.Trp1092=) c.3212G= (p.Trp1071=) | |
11 | g.47333231C>G | CA380314128 | MYBPC3 | c.3293G>C (p.Trp1098Ser) c.3275G>C (p.Trp1092Ser) c.3212G>C (p.Trp1071Ser) | |
11 | g.47333231C>T | CA013817 | MYBPC3 | c.3293G>A (p.Trp1098Ter) c.3275G>A (p.Trp1092Ter) c.3212G>A (p.Trp1071Ter) | ClinVar dbSNP |
11 | g.47333232A>C | CA380314131 | MYBPC3 | c.3292T>G (p.Trp1098Gly) c.3274T>G (p.Trp1092Gly) c.3211T>G (p.Trp1071Gly) | gnomAD v4 |
11 | g.47333232A>G | CA380314133 | MYBPC3 | c.3292T>C (p.Trp1098Arg) c.3274T>C (p.Trp1092Arg) c.3211T>C (p.Trp1071Arg) | dbSNP gnomAD v4 |
11 | g.47333232A>T | CA380314134 | MYBPC3 | c.3292T>A (p.Trp1098Arg) c.3274T>A (p.Trp1092Arg) c.3211T>A (p.Trp1071Arg) | |
11 | g.47333233G>A | CA474212164 | MYBPC3 | c.3291C>T (p.Leu1097=) c.3273C>T (p.Leu1091=) c.3210C>T (p.Leu1070=) | gnomAD v4 |
11 | g.47333233G>C | CA474212165 | MYBPC3 | c.3291C>G (p.Leu1097=) c.3273C>G (p.Leu1091=) c.3210C>G (p.Leu1070=) | |
11 | g.47333233G>T | CA474212163 | MYBPC3 | c.3291C>A (p.Leu1097=) c.3273C>A (p.Leu1091=) c.3210C>A (p.Leu1070=) | |
11 | g.47333234A>C | CA380314140 | MYBPC3 | c.3290T>G (p.Leu1097Arg) c.3272T>G (p.Leu1091Arg) c.3209T>G (p.Leu1070Arg) | |
11 | g.47333234A>G | CA380314138 | MYBPC3 | c.3290T>C (p.Leu1097Pro) c.3272T>C (p.Leu1091Pro) c.3209T>C (p.Leu1070Pro) | ClinVar |
11 | g.47333234A>T | CA380314137 | MYBPC3 | c.3290T>A (p.Leu1097His) c.3272T>A (p.Leu1091His) c.3209T>A (p.Leu1070His) | |
11 | g.47333235G>A | CA380314142 | MYBPC3 | c.3289C>T (p.Leu1097Phe) c.3271C>T (p.Leu1091Phe) c.3208C>T (p.Leu1070Phe) | gnomAD v4 |
11 | g.47333235G>C | CA380314144 | MYBPC3 | c.3289C>G (p.Leu1097Val) c.3271C>G (p.Leu1091Val) c.3208C>G (p.Leu1070Val) | |
11 | g.47333235G= | CA1969335272 | MYBPC3 | c.3289C= (p.Leu1097=) c.3271C= (p.Leu1091=) c.3208C= (p.Leu1070=) | |
11 | g.47333235G>T | CA380314145 | MYBPC3 | c.3289C>A (p.Leu1097Ile) c.3271C>A (p.Leu1091Ile) c.3208C>A (p.Leu1070Ile) | dbSNP gnomAD v4 |
11 | g.47333235_47333236delinsGC | CA1969335273 | MYBPC3 | c.3288_3289delinsGC (p.Glu1096=) c.3270_3271delinsGC (p.Glu1090=) c.3207_3208delinsGC (p.Glu1069=) | |
11 | g.47333236del | CA013802 | MYBPC3 | c.3288del (p.Glu1096AspfsTer?) c.3270del (p.Glu1090AspfsTer?) c.3207del (p.Glu1069AspfsTer?) | ClinVar dbSNP |
11 | g.47333236C>A | CA380314147 | MYBPC3 | c.3288G>T (p.Glu1096Asp) c.3270G>T (p.Glu1090Asp) c.3207G>T (p.Glu1069Asp) | |
11 | g.47333236C= | CA1630848693 | MYBPC3 | c.3288G= (p.Glu1096=) c.3270G= (p.Glu1090=) c.3207G= (p.Glu1069=) | |
11 | g.47333236C>G | CA380314148 | MYBPC3 | c.3288G>C (p.Glu1096Asp) c.3270G>C (p.Glu1090Asp) c.3207G>C (p.Glu1069Asp) | |
11 | g.47333236C>T | CA013807 | MYBPC3 | c.3288G>A (p.Glu1096=) c.3270G>A (p.Glu1090=) c.3207G>A (p.Glu1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333237T>A | CA380314151 | MYBPC3 | c.3287A>T (p.Glu1096Val) c.3269A>T (p.Glu1090Val) c.3206A>T (p.Glu1069Val) | ClinVar gnomAD v4 |
11 | g.47333237T>C | CA380314153 | MYBPC3 | c.3287A>G (p.Glu1096Gly) c.3269A>G (p.Glu1090Gly) c.3206A>G (p.Glu1069Gly) | gnomAD v4 |
11 | g.47333237T>G | CA380314155 | MYBPC3 | c.3287A>C (p.Glu1096Ala) c.3269A>C (p.Glu1090Ala) c.3206A>C (p.Glu1069Ala) | gnomAD v4 |
11 | g.47333238C>A | CA013793 | MYBPC3 | c.3286G>T (p.Glu1096Ter) c.3268G>T (p.Glu1090Ter) c.3205G>T (p.Glu1069Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333238C= | CA1969335278 | MYBPC3 | c.3286G= (p.Glu1096=) c.3268G= (p.Glu1090=) c.3205G= (p.Glu1069=) | |
11 | g.47333238C>G | CA380314158 | MYBPC3 | c.3286G>C (p.Glu1096Gln) c.3268G>C (p.Glu1090Gln) c.3205G>C (p.Glu1069Gln) | |
11 | g.47333238C>T | CA079267 | MYBPC3 | c.3286G>A (p.Glu1096Lys) c.3268G>A (p.Glu1090Lys) c.3205G>A (p.Glu1069Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333239C>A | CA474212169 | MYBPC3 | c.3285G>T (p.Thr1095=) c.3267G>T (p.Thr1089=) c.3204G>T (p.Thr1068=) | gnomAD v4 |
11 | g.47333239C= | CA1969335283 | MYBPC3 | c.3285G= (p.Thr1095=) c.3267G= (p.Thr1089=) c.3204G= (p.Thr1068=) | |
11 | g.47333239C>G | CA013787 | MYBPC3 | c.3285G>C (p.Thr1095=) c.3267G>C (p.Thr1089=) c.3204G>C (p.Thr1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333239C>T | CA013778 | MYBPC3 | c.3285G>A (p.Thr1095=) c.3267G>A (p.Thr1089=) c.3204G>A (p.Thr1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333240G>A | CA079262 | MYBPC3 | c.3284C>T (p.Thr1095Met) c.3266C>T (p.Thr1089Met) c.3203C>T (p.Thr1068Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333240G>C | CA380314164 | MYBPC3 | c.3284C>G (p.Thr1095Arg) c.3266C>G (p.Thr1089Arg) c.3203C>G (p.Thr1068Arg) | |
11 | g.47333240G= | CA1969335285 | MYBPC3 | c.3284C= (p.Thr1095=) c.3266C= (p.Thr1089=) c.3203C= (p.Thr1068=) | |
11 | g.47333240G>T | CA380314163 | MYBPC3 | c.3284C>A (p.Thr1095Lys) c.3266C>A (p.Thr1089Lys) c.3203C>A (p.Thr1068Lys) | gnomAD v4 |
11 | g.47333241T>A | CA380314167 | MYBPC3 | c.3283A>T (p.Thr1095Ser) c.3265A>T (p.Thr1089Ser) c.3202A>T (p.Thr1068Ser) | |
11 | g.47333241T>C | CA380314170 | MYBPC3 | c.3283A>G (p.Thr1095Ala) c.3265A>G (p.Thr1089Ala) c.3202A>G (p.Thr1068Ala) | |
11 | g.47333241T>G | CA380314169 | MYBPC3 | c.3283A>C (p.Thr1095Pro) c.3265A>C (p.Thr1089Pro) c.3202A>C (p.Thr1068Pro) | |
11 | g.47333242G>A | CA474212170 | MYBPC3 | c.3282C>T (p.Asn1094=) c.3264C>T (p.Asn1088=) c.3201C>T (p.Asn1067=) | dbSNP gnomAD v4 |
11 | g.47333242G>C | CA380314172 | MYBPC3 | c.3282C>G (p.Asn1094Lys) c.3264C>G (p.Asn1088Lys) c.3201C>G (p.Asn1067Lys) | |
11 | g.47333242G= | CA1969335287 | MYBPC3 | c.3282C= (p.Asn1094=) c.3264C= (p.Asn1088=) c.3201C= (p.Asn1067=) | |
11 | g.47333242G>T | CA380314175 | MYBPC3 | c.3282C>A (p.Asn1094Lys) c.3264C>A (p.Asn1088Lys) c.3201C>A (p.Asn1067Lys) | |
11 | g.47333243T>A | CA013770 | MYBPC3 | c.3281A>T (p.Asn1094Ile) c.3263A>T (p.Asn1088Ile) c.3200A>T (p.Asn1067Ile) | ClinVar dbSNP |
11 | g.47333243T>C | CA380314178 | MYBPC3 | c.3281A>G (p.Asn1094Ser) c.3263A>G (p.Asn1088Ser) c.3200A>G (p.Asn1067Ser) | |
11 | g.47333243T>G | CA380314180 | MYBPC3 | c.3281A>C (p.Asn1094Thr) c.3263A>C (p.Asn1088Thr) c.3200A>C (p.Asn1067Thr) | |
11 | g.47333243T= | CA1969335289 | MYBPC3 | c.3281A= (p.Asn1094=) c.3263A= (p.Asn1088=) c.3200A= (p.Asn1067=) | |
11 | g.47333244T>A | CA380314182 | MYBPC3 | c.3280A>T (p.Asn1094Tyr) c.3262A>T (p.Asn1088Tyr) c.3199A>T (p.Asn1067Tyr) | |
11 | g.47333244T>C | CA380314184 | MYBPC3 | c.3280A>G (p.Asn1094Asp) c.3262A>G (p.Asn1088Asp) c.3199A>G (p.Asn1067Asp) | |
11 | g.47333244T>G | CA380314186 | MYBPC3 | c.3280A>C (p.Asn1094His) c.3262A>C (p.Asn1088His) c.3199A>C (p.Asn1067His) | gnomAD v4 |
11 | g.47333244_47333251delinsGTGTACCCCCAGAGT | CA2580084224 | MYBPC3 | c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091GlufsTer?) c.3255_3262delinsACTCTGGGGGTACAC (p.Asp1085GlufsTer?) c.3192_3199delinsACTCTGGGGGTACAC (p.Asp1064GlufsTer?) | ClinVar |
11 | g.47333244_47333256del | CA2791330963 | MYBPC3 | c.3268_3280del (p.Gln1090ThrfsTer?) c.3250_3262del (p.Gln1084ThrfsTer?) c.3187_3199del (p.Gln1063ThrfsTer?) | |
11 | g.47333245G>A | CA013761 | MYBPC3 | c.3279C>T (p.Gly1093=) c.3261C>T (p.Gly1087=) c.3198C>T (p.Gly1066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333245G>C | CA474212174 | MYBPC3 | c.3279C>G (p.Gly1093=) c.3261C>G (p.Gly1087=) c.3198C>G (p.Gly1066=) | |
11 | g.47333245G= | CA1969335292 | MYBPC3 | c.3279C= (p.Gly1093=) c.3261C= (p.Gly1087=) c.3198C= (p.Gly1066=) | |
11 | g.47333245G>T | CA474212175 | MYBPC3 | c.3279C>A (p.Gly1093=) c.3261C>A (p.Gly1087=) c.3198C>A (p.Gly1066=) | gnomAD v4 |
11 | g.47333246C>A | CA380314190 | MYBPC3 | c.3278G>T (p.Gly1093Val) c.3260G>T (p.Gly1087Val) c.3197G>T (p.Gly1066Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333246C= | CA1969335295 | MYBPC3 | c.3278G= (p.Gly1093=) c.3260G= (p.Gly1087=) c.3197G= (p.Gly1066=) | |
11 | g.47333246C>G | CA380314192 | MYBPC3 | c.3278G>C (p.Gly1093Ala) c.3260G>C (p.Gly1087Ala) c.3197G>C (p.Gly1066Ala) | gnomAD v4 |
11 | g.47333246C>T | CA380314194 | MYBPC3 | c.3278G>A (p.Gly1093Asp) c.3260G>A (p.Gly1087Asp) c.3197G>A (p.Gly1066Asp) | gnomAD v4 |
11 | g.47333247C>A | CA013754 | MYBPC3 | c.3277G>T (p.Gly1093Cys) c.3259G>T (p.Gly1087Cys) c.3196G>T (p.Gly1066Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333247C= | CA1969335297 | MYBPC3 | c.3277G= (p.Gly1093=) c.3259G= (p.Gly1087=) c.3196G= (p.Gly1066=) | |
11 | g.47333247C>G | CA380314197 | MYBPC3 | c.3277G>C (p.Gly1093Arg) c.3259G>C (p.Gly1087Arg) c.3196G>C (p.Gly1066Arg) | |
11 | g.47333247C>T | CA380314196 | MYBPC3 | c.3277G>A (p.Gly1093Ser) c.3259G>A (p.Gly1087Ser) c.3196G>A (p.Gly1066Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333248G>A | CA013744 | MYBPC3 | c.3276C>T (p.Val1092=) c.3258C>T (p.Val1086=) c.3195C>T (p.Val1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333248G>C | CA474212178 | MYBPC3 | c.3276C>G (p.Val1092=) c.3258C>G (p.Val1086=) c.3195C>G (p.Val1065=) | |
11 | g.47333248G= | CA1969335300 | MYBPC3 | c.3276C= (p.Val1092=) c.3258C= (p.Val1086=) c.3195C= (p.Val1065=) | |
11 | g.47333248G>T | CA221682501 | MYBPC3 | c.3276C>A (p.Val1092=) c.3258C>A (p.Val1086=) c.3195C>A (p.Val1065=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333249A= | CA1969335302 | MYBPC3 | c.3275T= (p.Val1092=) c.3257T= (p.Val1086=) c.3194T= (p.Val1065=) | |
11 | g.47333249A>C | CA380314199 | MYBPC3 | c.3275T>G (p.Val1092Gly) c.3257T>G (p.Val1086Gly) c.3194T>G (p.Val1065Gly) | |
11 | g.47333249A>G | CA380314201 | MYBPC3 | c.3275T>C (p.Val1092Ala) c.3257T>C (p.Val1086Ala) c.3194T>C (p.Val1065Ala) | gnomAD v4 |
11 | g.47333249A>T | CA380314202 | MYBPC3 | c.3275T>A (p.Val1092Asp) c.3257T>A (p.Val1086Asp) c.3194T>A (p.Val1065Asp) | dbSNP |
11 | g.47333250C>A | CA053259 | MYBPC3 | c.3274G>T (p.Val1092Phe) c.3256G>T (p.Val1086Phe) c.3193G>T (p.Val1065Phe) | |
11 | g.47333250C= | CA1969335304 | MYBPC3 | c.3274G= (p.Val1092=) c.3256G= (p.Val1086=) c.3193G= (p.Val1065=) | |
11 | g.47333250C>G | CA380314205 | MYBPC3 | c.3274G>C (p.Val1092Leu) c.3256G>C (p.Val1086Leu) c.3193G>C (p.Val1065Leu) | |
11 | g.47333250C>T | CA079256 | MYBPC3 | c.3274G>A (p.Val1092Ile) c.3256G>A (p.Val1086Ile) c.3193G>A (p.Val1065Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333251A>C | CA380314207 | MYBPC3 | c.3273T>G (p.Asp1091Glu) c.3255T>G (p.Asp1085Glu) c.3192T>G (p.Asp1064Glu) | |
11 | g.47333251A>G | CA474212181 | MYBPC3 | c.3273T>C (p.Asp1091=) c.3255T>C (p.Asp1085=) c.3192T>C (p.Asp1064=) | |
11 | g.47333251A>T | CA380314209 | MYBPC3 | c.3273T>A (p.Asp1091Glu) c.3255T>A (p.Asp1085Glu) c.3192T>A (p.Asp1064Glu) | |
11 | g.47333252T>A | CA380314215 | MYBPC3 | c.3272A>T (p.Asp1091Val) c.3254A>T (p.Asp1085Val) c.3191A>T (p.Asp1064Val) | ClinVar dbSNP |
11 | g.47333252T>C | CA380314213 | MYBPC3 | c.3272A>G (p.Asp1091Gly) c.3254A>G (p.Asp1085Gly) c.3191A>G (p.Asp1064Gly) | gnomAD v4 |
11 | g.47333252T>G | CA380314212 | MYBPC3 | c.3272A>C (p.Asp1091Ala) c.3254A>C (p.Asp1085Ala) c.3191A>C (p.Asp1064Ala) | |
11 | g.47333252T= | CA1969335306 | MYBPC3 | c.3272A= (p.Asp1091=) c.3254A= (p.Asp1085=) c.3191A= (p.Asp1064=) | |
11 | g.47333253C>A | CA380314218 | MYBPC3 | c.3271G>T (p.Asp1091Tyr) c.3253G>T (p.Asp1085Tyr) c.3190G>T (p.Asp1064Tyr) | gnomAD v4 |
11 | g.47333253C>G | CA380314219 | MYBPC3 | c.3271G>C (p.Asp1091His) c.3253G>C (p.Asp1085His) c.3190G>C (p.Asp1064His) | gnomAD v4 |
11 | g.47333253C>T | CA053241 | MYBPC3 | c.3271G>A (p.Asp1091Asn) c.3253G>A (p.Asp1085Asn) c.3190G>A (p.Asp1064Asn) | |
11 | g.47333254del | CA2695213925 | MYBPC3 | c.3271del (p.Asp1091MetfsTer?) c.3253del (p.Asp1085MetfsTer?) c.3190del (p.Asp1064MetfsTer?) | |
11 | g.47333254C>A | CA380314222 | MYBPC3 | c.3270G>T (p.Gln1090His) c.3252G>T (p.Gln1084His) c.3189G>T (p.Gln1063His) | gnomAD v4 |
11 | g.47333254C= | CA1969335309 | MYBPC3 | c.3270G= (p.Gln1090=) c.3252G= (p.Gln1084=) c.3189G= (p.Gln1063=) | |
11 | g.47333254C>G | CA380314224 | MYBPC3 | c.3270G>C (p.Gln1090His) c.3252G>C (p.Gln1084His) c.3189G>C (p.Gln1063His) | |
11 | g.47333254C>T | CA474212182 | MYBPC3 | c.3270G>A (p.Gln1090=) c.3252G>A (p.Gln1084=) c.3189G>A (p.Gln1063=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333255T>A | CA380314225 | MYBPC3 | c.3269A>T (p.Gln1090Leu) c.3251A>T (p.Gln1084Leu) c.3188A>T (p.Gln1063Leu) | gnomAD v4 |
11 | g.47333255T>C | CA380314227 | MYBPC3 | c.3269A>G (p.Gln1090Arg) c.3251A>G (p.Gln1084Arg) c.3188A>G (p.Gln1063Arg) | ClinVar gnomAD v4 |
11 | g.47333255T>G | CA380314229 | MYBPC3 | c.3269A>C (p.Gln1090Pro) c.3251A>C (p.Gln1084Pro) c.3188A>C (p.Gln1063Pro) | gnomAD v4 |
11 | g.47333255_47333256delinsTG | CA1969335310 | MYBPC3 | c.3268_3269delinsCA (p.Gln1090=) c.3250_3251delinsCA (p.Gln1084=) c.3187_3188delinsCA (p.Gln1063=) | |
11 | g.47333258_47333262del | CA2580084226 | MYBPC3 | c.3265_3269del (p.Pro1089GlyfsTer?) c.3247_3251del (p.Pro1083GlyfsTer?) c.3184_3188del (p.Pro1062GlyfsTer?) | ClinVar |
11 | g.47333256G>A | CA380314231 | MYBPC3 | c.3268C>T (p.Gln1090Ter) c.3250C>T (p.Gln1084Ter) c.3187C>T (p.Gln1063Ter) | gnomAD v4 |
11 | g.47333256G>C | CA380314233 | MYBPC3 | c.3268C>G (p.Gln1090Glu) c.3250C>G (p.Gln1084Glu) c.3187C>G (p.Gln1063Glu) | |
11 | g.47333256G>T | CA380314234 | MYBPC3 | c.3268C>A (p.Gln1090Lys) c.3250C>A (p.Gln1084Lys) c.3187C>A (p.Gln1063Lys) | gnomAD v4 |
11 | g.47333259del | CA1139659389 | MYBPC3 | c.3268del (p.Gln1090ArgfsTer?) c.3250del (p.Gln1084ArgfsTer?) c.3187del (p.Gln1063ArgfsTer?) | ClinVar dbSNP |
11 | g.47333257G>A | CA474212187 | MYBPC3 | c.3267C>T (p.Pro1089=) c.3249C>T (p.Pro1083=) c.3186C>T (p.Pro1062=) | dbSNP gnomAD v2 |
11 | g.47333257G>C | CA474212185 | MYBPC3 | c.3267C>G (p.Pro1089=) c.3249C>G (p.Pro1083=) c.3186C>G (p.Pro1062=) | |
11 | g.47333257G= | CA1969335314 | MYBPC3 | c.3267C= (p.Pro1089=) c.3249C= (p.Pro1083=) c.3186C= (p.Pro1062=) | |
11 | g.47333257G>T | CA079254 | MYBPC3 | c.3267C>A (p.Pro1089=) c.3249C>A (p.Pro1083=) c.3186C>A (p.Pro1062=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333258G>A | CA380314240 | MYBPC3 | c.3266C>T (p.Pro1089Leu) c.3248C>T (p.Pro1083Leu) c.3185C>T (p.Pro1062Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333258G>C | CA380314237 | MYBPC3 | c.3266C>G (p.Pro1089Arg) c.3248C>G (p.Pro1083Arg) c.3185C>G (p.Pro1062Arg) | |
11 | g.47333258G= | CA1969335316 | MYBPC3 | c.3266C= (p.Pro1089=) c.3248C= (p.Pro1083=) c.3185C= (p.Pro1062=) | |
11 | g.47333258G>T | CA380314238 | MYBPC3 | c.3266C>A (p.Pro1089His) c.3248C>A (p.Pro1083His) c.3185C>A (p.Pro1062His) | gnomAD v4 |
11 | g.47333259G>A | CA380314243 | MYBPC3 | c.3265C>T (p.Pro1089Ser) c.3247C>T (p.Pro1083Ser) c.3184C>T (p.Pro1062Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333259G>C | CA380314244 | MYBPC3 | c.3265C>G (p.Pro1089Ala) c.3247C>G (p.Pro1083Ala) c.3184C>G (p.Pro1062Ala) | gnomAD v4 |
11 | g.47333259G= | CA1969335318 | MYBPC3 | c.3265C= (p.Pro1089=) c.3247C= (p.Pro1083=) c.3184C= (p.Pro1062=) | |
11 | g.47333259G>T | CA380314246 | MYBPC3 | c.3265C>A (p.Pro1089Thr) c.3247C>A (p.Pro1083Thr) c.3184C>A (p.Pro1062Thr) | |
11 | g.47333260T>A | CA079251 | MYBPC3 | c.3264A>T (p.Pro1088=) c.3246A>T (p.Pro1082=) c.3183A>T (p.Pro1061=) | dbSNP ExAC |
11 | g.47333260T>C | CA221682508 | MYBPC3 | c.3264A>G (p.Pro1088=) c.3246A>G (p.Pro1082=) c.3183A>G (p.Pro1061=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333260T>G | CA474212190 | MYBPC3 | c.3264A>C (p.Pro1088=) c.3246A>C (p.Pro1082=) c.3183A>C (p.Pro1061=) | |
11 | g.47333260T= | CA1969335320 | MYBPC3 | c.3264A= (p.Pro1088=) c.3246A= (p.Pro1082=) c.3183A= (p.Pro1061=) | |
11 | g.47333261G>A | CA380314249 | MYBPC3 | c.3263C>T (p.Pro1088Leu) c.3245C>T (p.Pro1082Leu) c.3182C>T (p.Pro1061Leu) | |
11 | g.47333261G>C | CA380314251 | MYBPC3 | c.3263C>G (p.Pro1088Arg) c.3245C>G (p.Pro1082Arg) c.3182C>G (p.Pro1061Arg) | |
11 | g.47333261G>T | CA380314253 | MYBPC3 | c.3263C>A (p.Pro1088Gln) c.3245C>A (p.Pro1082Gln) c.3182C>A (p.Pro1061Gln) | gnomAD v4 |
11 | g.47333262G>A | CA380314255 | MYBPC3 | c.3262C>T (p.Pro1088Ser) c.3244C>T (p.Pro1082Ser) c.3181C>T (p.Pro1061Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333262G>C | CA380314258 | MYBPC3 | c.3262C>G (p.Pro1088Ala) c.3244C>G (p.Pro1082Ala) c.3181C>G (p.Pro1061Ala) | dbSNP |
11 | g.47333262G= | CA1969335323 | MYBPC3 | c.3262C= (p.Pro1088=) c.3244C= (p.Pro1082=) c.3181C= (p.Pro1061=) | |
11 | g.47333262G>T | CA380314260 | MYBPC3 | c.3262C>A (p.Pro1088Thr) c.3244C>A (p.Pro1082Thr) c.3181C>A (p.Pro1061Thr) | gnomAD v4 |
11 | g.47333263C>A | CA380314262 | MYBPC3 | c.3261G>T (p.Lys1087Asn) c.3243G>T (p.Lys1081Asn) c.3180G>T (p.Lys1060Asn) | gnomAD v4 |
11 | g.47333263C>G | CA380314264 | MYBPC3 | c.3261G>C (p.Lys1087Asn) c.3243G>C (p.Lys1081Asn) c.3180G>C (p.Lys1060Asn) | |
11 | g.47333263C>T | CA474212191 | MYBPC3 | c.3261G>A (p.Lys1087=) c.3243G>A (p.Lys1081=) c.3180G>A (p.Lys1060=) | |
11 | g.47333264T>A | CA380314269 | MYBPC3 | c.3260A>T (p.Lys1087Met) c.3242A>T (p.Lys1081Met) c.3179A>T (p.Lys1060Met) | |
11 | g.47333264T>C | CA380314271 | MYBPC3 | c.3260A>G (p.Lys1087Arg) c.3242A>G (p.Lys1081Arg) c.3179A>G (p.Lys1060Arg) | |
11 | g.47333264T>G | CA380314266 | MYBPC3 | c.3260A>C (p.Lys1087Thr) c.3242A>C (p.Lys1081Thr) c.3179A>C (p.Lys1060Thr) | |
11 | g.47333265T>A | CA380314277 | MYBPC3 | c.3259A>T (p.Lys1087Ter) c.3241A>T (p.Lys1081Ter) c.3178A>T (p.Lys1060Ter) | |
11 | g.47333265T>C | CA380314273 | MYBPC3 | c.3259A>G (p.Lys1087Glu) c.3241A>G (p.Lys1081Glu) c.3178A>G (p.Lys1060Glu) | |
11 | g.47333265T>G | CA380314275 | MYBPC3 | c.3259A>C (p.Lys1087Gln) c.3241A>C (p.Lys1081Gln) c.3178A>C (p.Lys1060Gln) | gnomAD v4 |
11 | g.47333269_47333273del | CA2695213927 | MYBPC3 | c.3255_3259del (p.Trp1086AlafsTer?) c.3237_3241del (p.Trp1080AlafsTer?) c.3174_3178del (p.Trp1059AlafsTer?) | |
11 | g.47333266C>A | CA380314279 | MYBPC3 | c.3258G>T (p.Trp1086Cys) c.3240G>T (p.Trp1080Cys) c.3177G>T (p.Trp1059Cys) | gnomAD v4 |
11 | g.47333266C= | CA1969335324 | MYBPC3 | c.3258G= (p.Trp1086=) c.3240G= (p.Trp1080=) c.3177G= (p.Trp1059=) | |
11 | g.47333266C>G | CA380314281 | MYBPC3 | c.3258G>C (p.Trp1086Cys) c.3240G>C (p.Trp1080Cys) c.3177G>C (p.Trp1059Cys) | |
11 | g.47333266C>T | CA380314283 | MYBPC3 | c.3258G>A (p.Trp1086Ter) c.3240G>A (p.Trp1080Ter) c.3177G>A (p.Trp1059Ter) | ClinVar dbSNP |
11 | g.47333267dup | CA2695213928 | MYBPC3 | c.3258dup (p.Lys1087GlufsTer?) c.3240dup (p.Lys1081GlufsTer?) c.3177dup (p.Lys1060GlufsTer?) | |
11 | g.47333266_47333267dup | CA2499220961 | MYBPC3 | c.3257_3258dup (p.Lys1087GlyfsTer?) c.3239_3240dup (p.Lys1081GlyfsTer?) c.3176_3177dup (p.Lys1060GlyfsTer?) | ClinVar dbSNP |
11 | g.47333267C>A | CA380314285 | MYBPC3 | c.3257G>T (p.Trp1086Leu) c.3239G>T (p.Trp1080Leu) c.3176G>T (p.Trp1059Leu) | gnomAD v4 |
11 | g.47333267C= | CA1969335326 | MYBPC3 | c.3257G= (p.Trp1086=) c.3239G= (p.Trp1080=) c.3176G= (p.Trp1059=) | |
11 | g.47333267C>G | CA380314287 | MYBPC3 | c.3257G>C (p.Trp1086Ser) c.3239G>C (p.Trp1080Ser) c.3176G>C (p.Trp1059Ser) | ClinVar |
11 | g.47333267C>T | CA079249 | MYBPC3 | c.3257G>A (p.Trp1086Ter) c.3239G>A (p.Trp1080Ter) c.3176G>A (p.Trp1059Ter) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.47333268A= | CA1969335329 | MYBPC3 | c.3256T= (p.Trp1086=) c.3238T= (p.Trp1080=) c.3175T= (p.Trp1059=) | |
11 | g.47333268A>C | CA380314290 | MYBPC3 | c.3256T>G (p.Trp1086Gly) c.3238T>G (p.Trp1080Gly) c.3175T>G (p.Trp1059Gly) | |
11 | g.47333268A>G | CA380314293 | MYBPC3 | c.3256T>C (p.Trp1086Arg) c.3238T>C (p.Trp1080Arg) c.3175T>C (p.Trp1059Arg) | ClinVar dbSNP |
11 | g.47333268A>T | CA380314294 | MYBPC3 | c.3256T>A (p.Trp1086Arg) c.3238T>A (p.Trp1080Arg) c.3175T>A (p.Trp1059Arg) | |
11 | g.47333269C>A | CA380314297 | MYBPC3 | c.3255G>T (p.Glu1085Asp) c.3237G>T (p.Glu1079Asp) c.3174G>T (p.Glu1058Asp) | |
11 | g.47333269C>G | CA380314299 | MYBPC3 | c.3255G>C (p.Glu1085Asp) c.3237G>C (p.Glu1079Asp) c.3174G>C (p.Glu1058Asp) | |
11 | g.47333269C>T | CA474212192 | MYBPC3 | c.3255G>A (p.Glu1085=) c.3237G>A (p.Glu1079=) c.3174G>A (p.Glu1058=) | gnomAD v4 |
11 | g.47333270del | CA2695213929 | MYBPC3 | c.3254del (p.Glu1085GlyfsTer?) c.3236del (p.Glu1079GlyfsTer?) c.3173del (p.Glu1058GlyfsTer?) | |
11 | g.47333270T>A | CA380314301 | MYBPC3 | c.3254A>T (p.Glu1085Val) c.3236A>T (p.Glu1079Val) c.3173A>T (p.Glu1058Val) | |
11 | g.47333270T>C | CA380314305 | MYBPC3 | c.3254A>G (p.Glu1085Gly) c.3236A>G (p.Glu1079Gly) c.3173A>G (p.Glu1058Gly) | gnomAD v4 |
11 | g.47333270T>G | CA380314304 | MYBPC3 | c.3254A>C (p.Glu1085Ala) c.3236A>C (p.Glu1079Ala) c.3173A>C (p.Glu1058Ala) | |
11 | g.47333271C>A | CA013727 | MYBPC3 | c.3253G>T (p.Glu1085Ter) c.3235G>T (p.Glu1079Ter) c.3172G>T (p.Glu1058Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333271C= | CA1969335331 | MYBPC3 | c.3253G= (p.Glu1085=) c.3235G= (p.Glu1079=) c.3172G= (p.Glu1058=) | |
11 | g.47333271C>G | CA221682521 | MYBPC3 | c.3253G>C (p.Glu1085Gln) c.3235G>C (p.Glu1079Gln) c.3172G>C (p.Glu1058Gln) | dbSNP |
11 | g.47333271C>T | CA380314310 | MYBPC3 | c.3253G>A (p.Glu1085Lys) c.3235G>A (p.Glu1079Lys) c.3172G>A (p.Glu1058Lys) | gnomAD v4 |
11 | g.47333272C>A | CA474212193 | MYBPC3 | c.3252G>T (p.Leu1084=) c.3234G>T (p.Leu1078=) c.3171G>T (p.Leu1057=) | gnomAD v4 |
11 | g.47333272C>G | CA474212194 | MYBPC3 | c.3252G>C (p.Leu1084=) c.3234G>C (p.Leu1078=) c.3171G>C (p.Leu1057=) | |
11 | g.47333272C>T | CA474212195 | MYBPC3 | c.3252G>A (p.Leu1084=) c.3234G>A (p.Leu1078=) c.3171G>A (p.Leu1057=) | dbSNP gnomAD v4 |
11 | g.47333273A>C | CA380314313 | MYBPC3 | c.3251T>G (p.Leu1084Arg) c.3233T>G (p.Leu1078Arg) c.3170T>G (p.Leu1057Arg) | |
11 | g.47333273A>G | CA380314314 | MYBPC3 | c.3251T>C (p.Leu1084Pro) c.3233T>C (p.Leu1078Pro) c.3170T>C (p.Leu1057Pro) | ClinVar |
11 | g.47333273A>T | CA380314317 | MYBPC3 | c.3251T>A (p.Leu1084Gln) c.3233T>A (p.Leu1078Gln) c.3170T>A (p.Leu1057Gln) | |
11 | g.47333274G>A | CA474212196 | MYBPC3 | c.3250C>T (p.Leu1084=) c.3232C>T (p.Leu1078=) c.3169C>T (p.Leu1057=) | COSMIC COSMIC |
11 | g.47333274G>C | CA380314319 | MYBPC3 | c.3250C>G (p.Leu1084Val) c.3232C>G (p.Leu1078Val) c.3169C>G (p.Leu1057Val) | |
11 | g.47333274G>T | CA380314321 | MYBPC3 | c.3250C>A (p.Leu1084Met) c.3232C>A (p.Leu1078Met) c.3169C>A (p.Leu1057Met) | |
11 | g.47333275A>C | CA474212197 | MYBPC3 | c.3249T>G (p.Ala1083=) c.3231T>G (p.Ala1077=) c.3168T>G (p.Ala1056=) | |
11 | g.47333275A>G | CA474212198 | MYBPC3 | c.3249T>C (p.Ala1083=) c.3231T>C (p.Ala1077=) c.3168T>C (p.Ala1056=) | |
11 | g.47333275A>T | CA474212199 | MYBPC3 | c.3249T>A (p.Ala1083=) c.3231T>A (p.Ala1077=) c.3168T>A (p.Ala1056=) | |
11 | g.47333276G>A | CA380314322 | MYBPC3 | c.3248C>T (p.Ala1083Val) c.3230C>T (p.Ala1077Val) c.3167C>T (p.Ala1056Val) | |
11 | g.47333276G>C | CA380314324 | MYBPC3 | c.3248C>G (p.Ala1083Gly) c.3230C>G (p.Ala1077Gly) c.3167C>G (p.Ala1056Gly) | |
11 | g.47333276G>T | CA380314326 | MYBPC3 | c.3248C>A (p.Ala1083Asp) c.3230C>A (p.Ala1077Asp) c.3167C>A (p.Ala1056Asp) | gnomAD v4 |
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.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 |