Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332259_47335041del | CA2580084187 | MYBPC3 | c.2905+1_3628-1del c.2887+1_3610-1del c.2824+1_3547-1del | ClinVar |
11 | g.47332677_47333963del | CA2573051316 | MYBPC3 | c.2956_3519del c.2938_3501del c.2875_3438del | ClinVar |
11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | ClinVar |
11 | g.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) | 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 |